ClinVar Report

Variant ID Allele ID Clinical Significance Disease Name Frequency EXAC Frequency 1000 Genomes Project Zygosity URL
263159 249309 Benign not_specified
not_provided		 0.89464 0.79413 HOM Link to ClinVar
677947 656915 Benign not_provided . . HOM Link to ClinVar
263160 249310 Benign not_specified 0.56094 0.47923 HOM Link to ClinVar
677948 656961 Benign not_provided . . HOM Link to ClinVar
263172 249321 Benign not_specified
not_provided		 0.91275 0.86941 HOM Link to ClinVar
263175 249324 Likely_benign not_specified 0.00018 . HET Link to ClinVar
128297 133746 Benign not_specified 0.87675 0.79772 HOM Link to ClinVar
677950 656892 Benign not_provided . . HOM Link to ClinVar
677951 656963 Benign not_provided . . HOM Link to ClinVar
677952 656900 Benign not_provided . . HOM Link to ClinVar
263181 249331 Benign not_specified . 0.79992 HOM Link to ClinVar
128302 133751 Benign not_specified 0.89893 0.83586 HOM Link to ClinVar
679293 656918 Benign not_provided . . HOM Link to ClinVar
128307 133756 Benign not_specified 0.62948 0.54573 HOM Link to ClinVar
263188 249338 Benign not_specified 0.54365 0.49521 HOM Link to ClinVar
263191 249341 Benign not_specified 0.45665 0.33546 HOM Link to ClinVar
263192 249342 Benign not_specified 0.53006 0.52556 HOM Link to ClinVar
677954 656926 Benign not_provided . . HOM Link to ClinVar
128317 133766 Benign not_specified 0.87569 0.78874 HOM Link to ClinVar
677955 656939 Benign not_provided . . HOM Link to ClinVar
128319 133768 Benign not_specified 0.63764 0.58526 HOM Link to ClinVar
256824 249668 Benign not_specified 0.80444 0.77556 HOM Link to ClinVar
256823 249669 Benign not_specified
not_provided		 0.59339 0.5613 HOM Link to ClinVar
672361 657433 Benign not_provided . . HOM Link to ClinVar
673794 657434 Benign not_provided . . HET Link to ClinVar
262791 249841 Benign/Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.15296 0.08087 HET Link to ClinVar
135349 139088 not_provided not_specified 0.54431 0.61482 HET Link to ClinVar
133399 137138 not_provided not_specified 0.00613 0.0014 HET Link to ClinVar
133404 137143 not_provided not_specified 0.58991 0.64078 HET Link to ClinVar
133406 137145 not_provided not_specified . 0.59784 HET Link to ClinVar
133414 137153 not_provided not_specified 0.65961 0.64397 HET Link to ClinVar
135355 139094 not_provided not_specified 0.12953 0.11382 HET Link to ClinVar
674706 657839 Benign not_provided . . HET Link to ClinVar
674729 657891 Benign not_provided . . HET Link to ClinVar
674731 657892 Benign not_provided . . HET Link to ClinVar
683706 657896 Benign not_provided . . HET Link to ClinVar
674732 657843 Benign not_provided . . HET Link to ClinVar
674733 657844 Benign not_provided . . HET Link to ClinVar
674735 657849 Benign not_provided . . HET Link to ClinVar
669552 657852 Benign not_provided . . HET Link to ClinVar
227026 228438 Benign Left_ventricular_noncompaction_8
not_specified		 . 0.94509 HET Link to ClinVar
227027 228440 Benign not_specified 0.13103 0.10603 HET Link to ClinVar
381194 365234 Benign not_specified 0.21551 0.10703 HET Link to ClinVar
678600 657927 Benign not_provided . . HET Link to ClinVar
674714 657890 Benign not_provided . . HET Link to ClinVar
683707 657895 Benign not_provided . . HET Link to ClinVar
260559 249994 Benign not_specified 0.44579 0.31789 HET Link to ClinVar
95683 101580 Benign Nephronophthisis
Renal_dysplasia_and_retinal_aplasia
not_specified
not_provided		 0.46043 0.31969 HET Link to ClinVar
260554 249999 Benign not_specified 0.65657 0.56929 HOM Link to ClinVar
260553 250000 Benign not_specified 0.31427 0.27117 HET Link to ClinVar
167375 177885 Benign Nephronophthisis_4
not_specified
not_provided		 0.83625 0.84325 HOM Link to ClinVar
260547 250004 Benign not_specified 0.81079 0.83267 HET Link to ClinVar
682801 658000 Benign not_provided . . HET Link to ClinVar
682802 658028 Benign not_provided . . HET Link to ClinVar
297904 281043 Benign Distal_spinal_muscular_atrophy 0.16938 0.20228 HET Link to ClinVar
297905 281645 Benign Distal_spinal_muscular_atrophy . . HET Link to ClinVar
297906 281648 Benign Distal_spinal_muscular_atrophy . . HET Link to ClinVar
297910 281658 Likely_benign Distal_spinal_muscular_atrophy . 0.08626 HET Link to ClinVar
297912 283150 Benign Distal_spinal_muscular_atrophy . 0.20427 HET Link to ClinVar
297916 283153 Benign Distal_spinal_muscular_atrophy . 0.20108 HET Link to ClinVar
297928 282866 Benign Distal_spinal_muscular_atrophy . 0.26697 HET Link to ClinVar
667940 658030 Benign not_provided . . HET Link to ClinVar
285568 269805 Benign/Likely_benign Distal_spinal_muscular_atrophy
not_specified		 0.05353 0.05571 HET Link to ClinVar
194979 192141 Benign/Likely_benign Distal_spinal_muscular_atrophy
not_specified		 . . HET Link to ClinVar
194881 192043 Benign Distal_spinal_muscular_atrophy
not_specified		 0.17234 0.26957 HET Link to ClinVar
667938 657887 Benign not_provided . . HET Link to ClinVar
670557 657962 Benign not_provided . . HOM Link to ClinVar
297959 281077 Likely_benign Distal_spinal_muscular_atrophy 0.06293 0.05531 HET Link to ClinVar
198895 196055 Benign Distal_spinal_muscular_atrophy
not_specified		 0.22124 0.28574 HET Link to ClinVar
667937 658029 Benign not_provided . . HET Link to ClinVar
298113 283315 Benign Parkinson_Disease,_Recessive . 0.63738 HOM Link to ClinVar
721172 719112 Likely_benign not_provided . . HET Link to ClinVar
260540 249268 Benign not_specified 0.03267 0.01458 HET Link to ClinVar
129400 134846 Benign/Likely_benign Pheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2
not_specified
not_provided		 0.11276 0.08027 HET Link to ClinVar
291606 275918 Likely_benign Pheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2		 . 0.09365 HET Link to ClinVar
291608 275756 Likely_benign Pheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2		 . 0.09365 HET Link to ClinVar
291609 275764 Uncertain_significance Pheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2		 . . HET Link to ClinVar
291618 275844 Benign Pheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2		 . 0.54653 HET Link to ClinVar
368794 353023 Benign Pheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2		 . 0.52696 HET Link to ClinVar
95145 101045 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.15787 0.19489 HET Link to ClinVar
167454 177935 Benign/Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.15776 0.10363 HET Link to ClinVar
522225 512791 Benign Amyotrophic_lateral_sclerosis_type_10 . . HET Link to ClinVar
291763 276114 Benign Frontotemporal_dementia
MASP2_deficiency
Amyotrophic_Lateral_Sclerosis,_Dominant		 . . HET Link to ClinVar
291772 275885 Benign Frontotemporal_dementia
MASP2_deficiency
Amyotrophic_Lateral_Sclerosis,_Dominant		 . 0.70967 HET Link to ClinVar
291781 275846 Benign Frontotemporal_dementia
MASP2_deficiency
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant		 0.7855 0.6875 HET Link to ClinVar
291785 275927 Likely_benign MASP2_deficiency 0.05285 0.11841 HET Link to ClinVar
291790 275866 Benign MASP2_deficiency 0.06177 0.13139 HET Link to ClinVar
516652 497964 Benign not_specified 0.21844 0.22065 HET Link to ClinVar
380311 364358 Benign not_specified 0.22152 0.22863 HET Link to ClinVar
516653 498006 Benign not_specified 0.71698 0.63958 HET Link to ClinVar
291872 275981 Likely_benign Schnyder_crystalline_corneal_dystrophy . 0.00919 HET Link to ClinVar
291887 276079 Benign Schnyder_crystalline_corneal_dystrophy . . HOM Link to ClinVar
292153 276302 Benign Neural_tube_defects,_folate-sensitive . . HOM Link to ClinVar
292158 276582 Likely_benign Neural_tube_defects,_folate-sensitive . 0.70647 HET Link to ClinVar
292160 276602 Benign Neural_tube_defects,_folate-sensitive . 0.93331 HOM Link to ClinVar
292171 276604 Likely_benign Neural_tube_defects,_folate-sensitive . . HET Link to ClinVar
292181 276668 Likely_benign Neural_tube_defects,_folate-sensitive . 0.55851 HET Link to ClinVar
292191 276111 Likely_benign Neural_tube_defects,_folate-sensitive 0.23678 0.1268 HET Link to ClinVar
292203 276650 Benign Neural_tube_defects,_folate-sensitive . 0.93051 HOM Link to ClinVar
292209 276356 Benign Neural_tube_defects,_folate-sensitive 0.98712 0.93291 HOM Link to ClinVar
292223 276753 Likely_benign Neural_tube_defects,_folate-sensitive . 0.6284 HET Link to ClinVar
167306 177842 Benign Neural_tube_defects,_folate-sensitive
not_specified		 0.96966 0.90296 HOM Link to ClinVar
3521 18560 Conflicting_interpretations_of_pathogenicity,_other Schizophrenia,_susceptibility_to
Gastrointestinal_stroma_tumor
MTHFR_deficiency,_thermolabile_type
Neural_tube_defects,_folate-sensitive
not_specified
not_provided		 0.295 0.2494 HET Link to ClinVar
3520 18559 drug_response Venous_thrombosis
Neoplasm_of_stomach
Gastrointestinal_stroma_tumor
MTHFR_deficiency,_thermolabile_type
Neural_tube_defects,_folate-sensitive
not_specified
carboplatin_response_-_Efficacy
cyclophosphamide_response_-_Toxicity/ADR
methotrexate_response_-_Dosage,_Efficacy,_Toxicity/ADR
not_provided		 0.30367 0.24541 HET Link to ClinVar
683180 657052 Benign not_provided . . HET Link to ClinVar
439571 432974 Benign not_specified . 0.18291 HET Link to ClinVar
439565 432977 Benign Hereditary_pancreatitis . 0.17133 HET Link to ClinVar
439563 432983 Benign Hereditary_pancreatitis . 0.35763 HET Link to ClinVar
585697 576424 Benign Bartter_syndrome,_type_4b
not_provided		 0.56364 0.64297 HOM Link to ClinVar
585696 576425 Benign not_provided 0.68822 0.749 HOM Link to ClinVar
447107 440382 Benign not_specified
not_provided		 . 0.55551 HOM Link to ClinVar
447104 440387 Benign not_specified
not_provided		 0.80223 0.74042 HOM Link to ClinVar
447105 440388 Benign not_specified
not_provided		 0.92984 0.89397 HOM Link to ClinVar
381050 364523 Benign/Likely_benign not_specified
not_provided		 0.8008 0.73862 HOM Link to ClinVar
789426 706794 Benign not_provided . . HET Link to ClinVar
447108 440389 Benign not_specified
not_provided		 0.90963 0.82987 HOM Link to ClinVar
377683 364524 Benign not_specified
not_provided		 0.91135 0.83007 HOM Link to ClinVar
504914 496594 Benign not_specified 0.23137 0.16254 HET Link to ClinVar
447094 440394 Benign not_specified 0.93101 0.83826 HOM Link to ClinVar
447096 440395 Benign not_specified
not_provided		 0.65857 0.70168 HET Link to ClinVar
447097 440396 Benign not_specified
not_provided		 0.62103 0.61362 HET Link to ClinVar
293400 278005 Benign Age-related_cortical_cataract . 0.90575 HOM Link to ClinVar
767658 696246 Likely_benign not_provided . . HET Link to ClinVar
772652 696248 Benign not_provided . . HET Link to ClinVar
128475 133924 Benign Parkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.50653 0.33127 HET Link to ClinVar
559000 549503 Benign not_provided 0.49582 0.34685 HET Link to ClinVar
128473 133922 Benign Parkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.46479 0.33846 HET Link to ClinVar
128470 133919 Benign Parkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.46386 0.34625 HET Link to ClinVar
128466 133915 Benign Parkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.45895 0.33866 HET Link to ClinVar
128465 133914 Benign Parkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.55397 0.44848 HET Link to ClinVar
703790 695018 Benign not_provided . . HET Link to ClinVar
258889 249532 Benign not_specified 0.97189 0.95907 HOM Link to ClinVar
44641 53808 Benign Pheochromocytoma
Hereditary_cancer-predisposing_syndrome
Paraganglioma_and_gastric_stromal_sarcoma
not_specified		 . 0.95707 HOM Link to ClinVar
590790 581729 association Rheumatoid_arthritis 0.56192 0.51518 HET Link to ClinVar
294367 279073 Likely_benign Hyperprolinemia 0.10439 0.04792 HET Link to ClinVar
294382 278123 Benign Hyperprolinemia 0.70717 0.64157 HET Link to ClinVar
262027 249677 Benign not_specified
Parkinson_Disease,_Recessive
not_provided		 0.86228 0.82189 HOM Link to ClinVar
262028 249678 Benign not_specified
Parkinson_Disease,_Recessive
not_provided		 0.86276 0.82069 HOM Link to ClinVar
295004 278643 Benign/Likely_benign Parkinson_disease_6,_autosomal_recessive_early-onset
Parkinson_Disease,_Recessive		 0.09211 0.1228 HET Link to ClinVar
295006 279809 Benign/Likely_benign Congenital_disorder_of_glycosylation
Parkinson_disease_6,_autosomal_recessive_early-onset
not_specified
Parkinson_Disease,_Recessive		 0.29739 0.30052 HOM Link to ClinVar
295011 278644 Benign Congenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive		 0.86389 0.83447 HOM Link to ClinVar
295013 278645 Benign Congenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive		 . 0.83666 HOM Link to ClinVar
295014 278656 Likely_benign Congenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive		 . 0.30012 HOM Link to ClinVar
295021 278548 Uncertain_significance Parkinson_Disease,_Recessive . . HET Link to ClinVar
295024 279966 Likely_benign Congenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive		 . 0.29992 HOM Link to ClinVar
295030 279967 Likely_benign Congenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive		 . 0.30272 HOM Link to ClinVar
295031 278679 Likely_benign Congenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive		 . . HOM Link to ClinVar
295057 279865 Benign Congenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive		 . 0.82488 HOM Link to ClinVar
258081 249711 Benign not_specified 0.24052 0.16014 HET Link to ClinVar
258080 249712 Benign not_specified 0.22041 0.14677 HET Link to ClinVar
197678 194839 Benign not_specified 0.94498 0.92951 HET Link to ClinVar
295558 279050 Benign Hypophosphatasia . 0.33666 HET Link to ClinVar
295561 278910 Benign Hypophosphatasia . 0.86821 HOM Link to ClinVar
295563 278914 Benign Hypophosphatasia . 0.16454 HET Link to ClinVar
295571 278920 Likely_benign Hypophosphatasia . . HET Link to ClinVar
295685 280433 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1		 . 0.31989 HET Link to ClinVar
295695 280437 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
not_provided		 . 0.78035 HOM Link to ClinVar
295700 280442 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1		 0.18487 0.17612 HET Link to ClinVar
295701 278997 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified		 . . HET Link to ClinVar
295707 279137 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1		 0.29821 0.25719 HET Link to ClinVar
439796 433613 Benign not_specified . 0.76338 HOM Link to ClinVar
618168 609379 Benign not_specified 0.18207 0.15635 HET Link to ClinVar
618169 609380 Benign not_specified 0.18471 0.17153 HET Link to ClinVar
295723 280489 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1		 . 0.15775 HET Link to ClinVar
295729 280462 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided		 0.17575 0.16414 HET Link to ClinVar
295733 279065 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1		 0.17476 0.15955 HET Link to ClinVar
295750 280514 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
not_provided		 0.28757 0.34605 HET Link to ClinVar
295753 279250 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided		 0.1728 0.15216 HET Link to ClinVar
295787 280605 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1		 0.81156 0.76198 HOM Link to ClinVar
291236 275473 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
not_provided		 0.74631 0.69149 HET Link to ClinVar
285755 269992 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
not_provided		 0.60665 0.42492 HOM Link to ClinVar
295864 279443 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified		 0.98374 0.94229 HOM Link to ClinVar
295881 280764 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided		 . 0.92991 HOM Link to ClinVar
295882 280765 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided		 0.98118 0.92991 HOM Link to ClinVar
295887 279454 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided		 0.99312 0.97364 HOM Link to ClinVar
439797 433614 Benign not_specified 0.96877 0.92592 HOM Link to ClinVar
295910 280779 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided		 0.57694 0.44449 HOM Link to ClinVar
295912 280780 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided		 . 0.44449 HOM Link to ClinVar
295913 280781 Benign Dyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided		 0.98608 0.94808 HOM Link to ClinVar
138926 142629 Benign Diamond-Blackfan_anemia 0.99463 0.97684 HOM Link to ClinVar
92889 98796 Benign UDPglucose-4-epimerase_deficiency
not_specified		 . . HET Link to ClinVar
296841 281738 Benign Deficiency_of_hydroxymethylglutaryl-CoA_lyase
UDPglucose-4-epimerase_deficiency		 . 0.88339 HOM Link to ClinVar
684182 657772 Benign not_provided . . HOM Link to ClinVar
92602 98510 Benign Deficiency_of_hydroxymethylglutaryl-CoA_lyase
not_specified		 0.9042 0.88738 HOM Link to ClinVar
673763 657752 Benign not_provided . . HET Link to ClinVar
255488 249839 Benign not_specified 0.90528 0.88778 HOM Link to ClinVar
683937 657778 Benign not_provided . . HET Link to ClinVar
683932 657780 Benign not_provided . . HET Link to ClinVar
691 15730 Benign FU1/FU2_POLYMORPHISM
Fucosidosis
not_provided		 0.27912 0.21126 HET Link to ClinVar
683990 657784 Benign not_provided . . HET Link to ClinVar
683986 657770 Benign not_provided . . HET Link to ClinVar
683925 657786 Benign not_provided . . HET Link to ClinVar
296993 280237 Benign Familial_hypercholesterolemia_1 . . HOM Link to ClinVar
297006 281950 Benign Familial_hypercholesterolemia_1 . 0.90336 HOM Link to ClinVar
297011 282036 Benign Familial_hypercholesterolemia_1 . 0.57109 HOM Link to ClinVar
297021 280262 Benign Familial_hypercholesterolemia_1 . 0.56929 HOM Link to ClinVar
680991 657812 Benign not_provided . . HET Link to ClinVar
669827 657800 Benign not_provided . . HET Link to ClinVar
669828 657807 Benign not_provided . . HET Link to ClinVar
95963 101859 Benign Eichsfeld_type_congenital_muscular_dystrophy
not_specified
SEPN1-Related_Disorders
not_provided		 0.81443 0.84185 HET Link to ClinVar
680776 657744 Benign not_provided . . HET Link to ClinVar
669830 657813 Benign not_provided . . HET Link to ClinVar
261271 249869 Benign not_specified
not_provided		 0.78613 0.74701 HET Link to ClinVar
95956 101852 Benign Eichsfeld_type_congenital_muscular_dystrophy
not_specified
SEPN1-Related_Disorders
not_provided		 0.81325 0.79193 HET Link to ClinVar
669832 657821 Benign not_provided . . HET Link to ClinVar
261274 249873 Benign not_specified
not_provided		 0.79443 0.69768 HET Link to ClinVar
669834 657829 Benign not_provided . . HET Link to ClinVar
669835 657815 Benign not_provided . . HET Link to ClinVar
95959 101855 Benign Eichsfeld_type_congenital_muscular_dystrophy
not_specified
SEPN1-Related_Disorders
not_provided		 0.77473 0.69748 HET Link to ClinVar
669836 657819 Benign not_provided . . HET Link to ClinVar
297050 282081 Benign SEPN1-Related_Disorders . 0.76298 HET Link to ClinVar
297053 280308 Benign SEPN1-Related_Disorders . 0.86222 HET Link to ClinVar
297061 280694 Uncertain_significance SEPN1-Related_Disorders . . HET Link to ClinVar
297106 282168 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.09964 HET Link to ClinVar
635265 623097 drug_response buprenorphine_response_-_Efficacy . 0.45907 HET Link to ClinVar
297151 282106 Benign Charcot-Marie-Tooth_disease,_dominant_intermediate_C
not_specified
Charcot-Marie-Tooth,_Intermediate
not_provided		 0.09819 0.08746 HET Link to ClinVar
670891 657853 Benign not_provided . . HET Link to ClinVar
670337 657748 Benign not_provided . . HOM Link to ClinVar
670336 657861 Benign not_provided . . HOM Link to ClinVar
670889 657834 Benign not_provided . . HET Link to ClinVar
670888 657841 Benign not_provided . . HET Link to ClinVar
670335 657749 Benign not_provided . . HOM Link to ClinVar
297163 280382 Benign not_specified
Charcot-Marie-Tooth,_Intermediate		 0.0976 0.08566 HET Link to ClinVar
297175 280750 Benign Charcot-Marie-Tooth,_Intermediate
not_provided		 . 0.0603 HET Link to ClinVar
297196 280761 Benign Erythrokeratodermia_variabilis_et_progressiva_1
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.40395 HET Link to ClinVar
297204 282177 Benign Erythrokeratodermia_variabilis_et_progressiva_1
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.25819 HET Link to ClinVar
297210 282201 Benign Erythrokeratodermia_variabilis_et_progressiva_1
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.21286 HET Link to ClinVar
256790 249885 Benign not_specified 0.56481 0.59245 HOM Link to ClinVar
256789 249886 Benign not_specified 0.31561 0.24641 HET Link to ClinVar
434837 427809 Benign/Likely_benign not_specified
not_provided		 0.00299 0.0012 HET Link to ClinVar
684263 656850 Benign not_provided . . HET Link to ClinVar
684262 656853 Benign not_provided . . HOM Link to ClinVar
297230 280445 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.66733 HET Link to ClinVar
297233 280826 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.61402 HET Link to ClinVar
297234 282406 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.66074 HET Link to ClinVar
297240 282423 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.66114 HET Link to ClinVar
668044 657872 Benign not_provided . . HET Link to ClinVar
670733 657899 Benign not_provided . . HET Link to ClinVar
668040 657789 Benign not_provided . . HET Link to ClinVar
684006 657790 Benign not_provided . . HET Link to ClinVar
684001 657791 Benign not_provided . . HET Link to ClinVar
297250 280858 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.83267 HET Link to ClinVar
140502 150180 not_provided not_provided . 0.21805 HET Link to ClinVar
140525 150203 not_provided not_provided . 0.22264 HET Link to ClinVar
140535 150213 Benign not_specified
not_provided		 0.98587 0.99321 HOM Link to ClinVar
140538 150216 not_provided not_provided . 0.91354 HOM Link to ClinVar
258399 249913 Benign Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified
Stickler_Syndrome,_Recessive		 0.30335 0.39736 HET Link to ClinVar
683426 657914 Benign not_provided . . HET Link to ClinVar
258392 249920 Benign Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified
Stickler_Syndrome,_Recessive		 . 0.17812 HET Link to ClinVar
258387 249924 Benign not_specified . 0.40156 HET Link to ClinVar
258385 249927 Benign not_specified . 0.3744 HET Link to ClinVar
668734 657886 Benign not_provided . . HET Link to ClinVar
45104 54271 Benign DFNA_2_Nonsyndromic_Hearing_Loss
not_specified		 0.67575 0.56749 HOM Link to ClinVar
45105 54272 Benign DFNA_2_Nonsyndromic_Hearing_Loss
not_specified		 0.65118 0.5633 HOM Link to ClinVar
402571 389436 Benign not_specified 0.4048 0.33307 HET Link to ClinVar
402941 389395 Benign not_specified 0.98898 0.96306 HOM Link to ClinVar
402943 389444 Benign not_specified 0.66873 0.73443 HET Link to ClinVar
402944 389407 Benign not_specified . 0.12121 HET Link to ClinVar
402945 389445 Benign not_specified 0.99344 0.97724 HOM Link to ClinVar
402946 389449 Benign not_specified 0.98681 0.94928 HOM Link to ClinVar
402947 389454 Benign not_specified 0.98685 0.94928 HOM Link to ClinVar
297335 280544 Benign Renal_Hypomagnesemia,_Recessive . 0.60683 HOM Link to ClinVar
194558 191721 Likely_benign not_specified . 1 HOM Link to ClinVar
674901 657889 Benign not_provided . . HOM Link to ClinVar
667664 657900 Benign not_provided . . HOM Link to ClinVar
667663 657995 Benign not_provided . . HOM Link to ClinVar
667661 657824 Benign not_provided . . HOM Link to ClinVar
674899 657940 Benign not_provided . . HOM Link to ClinVar
674898 657944 Benign not_provided . . HOM Link to ClinVar
297374 282346 Benign Dystonia
Glucose_transporter_type_1_deficiency_syndrome		 . 0.38339 HET Link to ClinVar
95414 101313 Benign Dystonia
Glucose_transporter_type_1_deficiency_syndrome
History_of_neurodevelopmental_disorder
GLUT1_deficiency_syndrome_1
not_specified		 . 0.11961 HET Link to ClinVar
95411 101310 Benign Dystonia
Glucose_transporter_type_1_deficiency_syndrome
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.19022 0.14137 HET Link to ClinVar
670109 657948 Benign not_provided . . HET Link to ClinVar
668836 657832 Benign not_provided . . HET Link to ClinVar
297395 282361 Benign Dystonia
Glucose_transporter_type_1_deficiency_syndrome		 . 0.14217 HET Link to ClinVar
259760 249934 Benign not_specified 0.3032 0.20967 HET Link to ClinVar
260613 249939 Benign Seizures
not_specified
not_provided		 0.31911 0.19808 HET Link to ClinVar
260619 249945 Benign not_specified 0.32003 0.19888 HET Link to ClinVar
260620 249946 Benign not_specified . 0.21186 HET Link to ClinVar
260623 249949 Benign Seizures
not_specified
not_provided		 0.31835 0.19629 HET Link to ClinVar
260626 249952 Benign Seizures
not_specified
not_provided		 0.33096 0.22105 HET Link to ClinVar
262909 249955 Benign not_specified 0.88129 0.80911 HOM Link to ClinVar
262910 249956 Benign not_specified 0.66838 0.51877 HET Link to ClinVar
415448 391273 Benign Gorlin_syndrome 0.04404 0.0629 HET Link to ClinVar
239554 238304 Benign not_provided 0.00358 0.0006 HET Link to ClinVar
261222 249960 Benign not_specified 0.65886 0.79113 HET Link to ClinVar
95947 101843 Benign Leukoencephalopathy_with_vanishing_white_matter
not_specified
not_provided		 0.25876 0.29653 HET Link to ClinVar
297453 281149 Benign Leukoencephalopathy_with_vanishing_white_matter . 0.48063 HET Link to ClinVar
439920 432989 Benign not_specified 0.92446 0.9353 HET Link to ClinVar
257529 249965 Benign not_specified 0.92551 0.9371 HET Link to ClinVar
297505 280720 Likely_benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.11841 HOM Link to ClinVar
167524 177974 Benign Muscle_eye_brain_disease
not_specified		 0.98384 0.94249 HOM Link to ClinVar
130004 135450 Benign not_specified
not_provided		 0.00901 0.0028 HET Link to ClinVar
6724 21763 Benign FAAH_POLYMORPHISM 0.23331 0.26158 HET Link to ClinVar
297544 281229 Benign Primary_Microcephaly,_Recessive . . HET Link to ClinVar
94095 99995 Benign Primary_autosomal_recessive_microcephaly_7
not_specified
Primary_Microcephaly,_Recessive
not_provided		 0.49787 0.39337 HET Link to ClinVar
94094 99994 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_7
not_specified
Primary_Microcephaly,_Recessive
not_provided		 0.24206 0.17832 HET Link to ClinVar
670142 657961 Benign not_provided . . HOM Link to ClinVar
160057 168006 Benign not_specified
not_provided		 . 0.39437 HET Link to ClinVar
673949 657936 Benign not_provided . . HET Link to ClinVar
670465 657937 Benign not_provided . . HET Link to ClinVar
670581 657855 Benign not_provided . . HET Link to ClinVar
21354 34206 Benign Primary_autosomal_recessive_microcephaly_7
not_specified
Primary_Microcephaly,_Recessive
not_provided		 0.50345 0.60643 HET Link to ClinVar
670580 657963 Benign not_provided . . HET Link to ClinVar
670141 657859 Benign not_provided . . HET Link to ClinVar
193357 190521 Benign not_specified 0.35095 0.27855 HOM Link to ClinVar
559025 549525 Benign not_provided 0.22198 0.40216 HET Link to ClinVar
559026 549526 Benign not_provided 0.0872 0.19149 HET Link to ClinVar
683619 657968 Benign not_provided . . HET Link to ClinVar
680257 657867 Benign not_provided . . HET Link to ClinVar
92429 39074 Benign Carnitine_palmitoyltransferase_II_deficiency
not_specified
not_provided		 0.48413 0.41314 HET Link to ClinVar
460427 448240 Conflicting_interpretations_of_pathogenicity not_provided 0.00235 0.0004 HET Link to ClinVar
368876 353105 Benign Carnitine_palmitoyltransferase_II_deficiency . 0.22824 HET Link to ClinVar
6996 22035 risk_factor Myocardial_infarction_1 0.29529 0.14437 HET Link to ClinVar
735250 743758 Benign not_provided . . HET Link to ClinVar
297612 281322 Benign Desmosterolosis . 0.9998 HOM Link to ClinVar
297621 282895 Likely_benign Desmosterolosis . 0.01018 HET Link to ClinVar
297623 282901 Benign Desmosterolosis . 0.98323 HOM Link to ClinVar
297654 281388 Benign Desmosterolosis 0.66506 0.6276 HOM Link to ClinVar
297656 282617 Benign Desmosterolosis 0.99684 0.98862 HOM Link to ClinVar
297673 280880 Benign Bartter_syndrome . 0.59405 HOM Link to ClinVar
297674 281402 Benign Bartter_syndrome . 0.59505 HOM Link to ClinVar
46553 55718 Benign/Likely_benign Bartter_syndrome
Bartter_syndrome_type_4
not_specified		 0.15861 0.11601 HOM Link to ClinVar
297681 282935 Benign Bartter_syndrome . 0.36242 HOM Link to ClinVar
368877 353106 Benign Bartter_syndrome . 0.42991 HOM Link to ClinVar
440703 434132 Benign Familial_hypercholesterolemia_1 . 0.60144 HOM Link to ClinVar
36666 45327 Benign/Likely_benign Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia		 . 0.09385 HET Link to ClinVar
36669 45330 Benign/Likely_benign Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified		 . 0.09125 HET Link to ClinVar
262904 249984 Benign/Likely_benign Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified		 0.93699 0.90855 HOM Link to ClinVar
440710 434139 Benign Familial_hypercholesterolemia_1 . 0.09345 HET Link to ClinVar
265925 260601 Benign Familial_hypercholesterolemia_1 . 0.54932 HET Link to ClinVar
265928 260605 Uncertain_significance Familial_hypercholesterolemia_1 . . HET Link to ClinVar
265929 260604 Benign Familial_hypercholesterolemia_1 . 0.13858 HET Link to ClinVar
262908 249988 Benign/Likely_benign Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified		 0.43115 0.46625 HOM Link to ClinVar
262899 249989 Conflicting_interpretations_of_pathogenicity Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified		 0.99454 0.98183 HOM Link to ClinVar
265943 260619 Benign Familial_hypercholesterolemia_1 . 0.86921 HET Link to ClinVar
201126 196755 Benign/Likely_benign Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified		 0.8544 0.86921 HET Link to ClinVar
201124 196757 Benign/Likely_benign Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified		 0.85444 0.86901 HET Link to ClinVar
36670 45331 Benign/Likely_benign Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified		 0.94328 0.89896 HOM Link to ClinVar
770847 696804 Benign not_provided . . HET Link to ClinVar
17039 32078 Benign COMPLEMENT_COMPONENT_8,_ALPHA_SUBUNIT,_A/B_POLYMORPHISM
not_specified		 0.36838 0.34365 HET Link to ClinVar
297752 282697 Benign Corneal_Dystrophy,_Dominant/Recessive . 0.25699 HET Link to ClinVar
297754 282703 Likely_benign Corneal_Dystrophy,_Dominant/Recessive . 0.10463 HET Link to ClinVar
297756 281504 Benign Corneal_Dystrophy,_Dominant/Recessive . 0.41294 HET Link to ClinVar
297763 282981 Likely_benign Corneal_Dystrophy,_Dominant/Recessive . 0.05391 HET Link to ClinVar
297769 280967 Likely_benign Corneal_Dystrophy,_Dominant/Recessive 0.09721 0.10403 HET Link to ClinVar
297778 282741 Likely_benign Corneal_Dystrophy,_Dominant/Recessive . 0.10403 HET Link to ClinVar
770850 777132 Benign not_provided . . HET Link to ClinVar
585796 576551 Likely_benign not_provided 0.00032 . HET Link to ClinVar
95531 101430 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.75143 0.83047 HET Link to ClinVar
297858 280998 Benign Congenital_disorder_of_glycosylation . 0.6847 HET Link to ClinVar
676174 657878 Benign not_provided . . HET Link to ClinVar
297871 282807 Benign/Likely_benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1t
not_specified
not_provided		 0.13043 0.12979 HET Link to ClinVar
676177 657978 Benign not_provided . . HET Link to ClinVar
297874 283126 Benign/Likely_benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1t
not_specified
not_provided		 0.2428 0.24141 HET Link to ClinVar
558803 549534 Benign not_provided 0.41411 0.5002 HET Link to ClinVar
676178 657879 Benign not_provided . . HET Link to ClinVar
474681 448350 Benign Parkinson_disease_19a,_juvenile-onset 0.02145 0.01138 HET Link to ClinVar
297982 282919 Benign Leptin_receptor_deficiency
Monogenic_Non-Syndromic_Obesity		 0.55154 0.56789 HET Link to ClinVar
487357 480430 Benign Leptin_receptor_deficiency 0.99991 1 HOM Link to ClinVar
298000 282947 Benign Leptin_receptor_deficiency
not_specified
Monogenic_Non-Syndromic_Obesity		 0.45262 0.52975 HET Link to ClinVar
298008 281762 Benign Leptin_receptor_deficiency
Monogenic_Non-Syndromic_Obesity		 . . HET Link to ClinVar
298009 281763 Uncertain_significance Leptin_receptor_deficiency
Monogenic_Non-Syndromic_Obesity		 . 0.0016 HET Link to ClinVar
298027 281783 Likely_benign Cystathioninuria . 0.03235 HET Link to ClinVar
676188 658055 Benign not_provided . . HOM Link to ClinVar
254691 250014 Benign not_specified 0.25061 0.18291 HOM Link to ClinVar
226050 227862 Benign Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency . . HOM Link to ClinVar
92259 98170 Benign/Likely_benign Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency
not_specified		 0.27404 0.23123 HOM Link to ClinVar
676189 658062 Benign not_provided . . HOM Link to ClinVar
254689 250015 Benign not_specified 0.27366 0.23103 HOM Link to ClinVar
254690 250016 Benign not_specified 0.28608 0.1901 HOM Link to ClinVar
92254 98165 Benign/Likely_benign Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency
not_specified		 0.23335 0.17432 HOM Link to ClinVar
298078 281831 Likely_benign Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency . 0.09824 HOM Link to ClinVar
298081 281218 Benign Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency . 0.69169 HOM Link to ClinVar
402356 389423 Benign not_specified 0.99553 0.97883 HOM Link to ClinVar
402357 389425 Benign not_specified 0.13826 0.1254 HET Link to ClinVar
402358 389472 Benign not_specified 0.74619 0.6853 HET Link to ClinVar
402359 390495 Benign not_specified . . HET Link to ClinVar
671176 658068 Benign not_provided . . HOM Link to ClinVar
683664 658080 Benign not_provided . . HOM Link to ClinVar
298100 281853 Uncertain_significance Hypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . . HET Link to ClinVar
225991 227744 drug_response latanoprost_response_-_Efficacy . 0.78235 HOM Link to ClinVar
722691 732625 Benign not_provided . . HET Link to ClinVar
298125 281871 Benign Glomuvenous_malformations . 0.61601 HOM Link to ClinVar
298167 281285 Benign Severe_congenital_neutropenia . 0.15815 HET Link to ClinVar
298175 283194 Benign Severe_congenital_neutropenia . 0.80831 HOM Link to ClinVar
259698 250019 Benign/Likely_benign Severe_congenital_neutropenia
Severe_congenital_neutropenia_2,_autosomal_dominant
not_specified		 0.01357 0.00539 HET Link to ClinVar
211078 206837 Benign Severe_congenital_neutropenia
not_specified		 0.88834 0.91893 HOM Link to ClinVar
402836 389473 Benign not_specified 0.85197 0.92033 HOM Link to ClinVar
402838 389434 Benign not_specified 0.92158 0.94908 HOM Link to ClinVar
402839 389440 Benign not_specified 0.92158 0.95028 HOM Link to ClinVar
298213 283380 Benign Diamond-Blackfan_anemia 0.677 0.69189 HOM Link to ClinVar
136235 139938 Benign Macular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided		 0.88938 0.76997 HOM Link to ClinVar
678762 658099 Benign not_provided . . HET Link to ClinVar
99396 105285 Benign/Likely_benign Macular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided		 0.21967 0.20068 HET Link to ClinVar
99390 105279 Conflicting_interpretations_of_pathogenicity Macular_degeneration
Stargardt_disease_1
Stargardt_disease
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided		 0.04456 0.02077 HET Link to ClinVar
99389 105278 not_provided not_provided . 0.69149 HET Link to ClinVar
680456 658070 Benign not_provided . . HOM Link to ClinVar
678761 657925 Benign not_provided . . HET Link to ClinVar
680455 657991 Benign not_provided . . HET Link to ClinVar
255923 250031 Benign Macular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive		 . . HET Link to ClinVar
678759 658078 Benign not_provided . . HET Link to ClinVar
678756 657938 Benign not_provided . . HOM Link to ClinVar
680452 658079 Benign not_provided . . HOM Link to ClinVar
99079 104968 not_provided not_provided . 0.3736 HET Link to ClinVar
193579 190742 Benign Macular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive		 . . HOM Link to ClinVar
99037 104927 Benign Macular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided		 0.48144 0.51478 HOM Link to ClinVar
680451 658087 Benign not_provided . . HOM Link to ClinVar
166618 177452 Benign not_specified . 0.98702 HOM Link to ClinVar
258821 250040 Benign not_specified
not_provided		 0.39233 0.27995 HET Link to ClinVar
298277 283459 Likely_benign Dihydropyrimidine_dehydrogenase_deficiency . 0.10683 HET Link to ClinVar
100080 105957 Benign/Likely_benign Dihydropyrimidine_dehydrogenase_deficiency
not_specified
not_provided		 0.04647 0.04393 HET Link to ClinVar
100086 105963 not_provided not_provided . 0.22664 HET Link to ClinVar
100092 105969 Benign/Likely_benign Dihydropyrimidine_dehydrogenase_deficiency
not_specified
not_provided		 0.19296 0.1849 HET Link to ClinVar
100103 105980 Benign/Likely_benign Dihydropyrimidine_dehydrogenase_deficiency
not_specified
not_provided		 0.10458 0.0637 HET Link to ClinVar
100105 105982 not_provided not_provided . 0.10923 HET Link to ClinVar
100123 106000 Benign Dihydropyrimidine_dehydrogenase_deficiency
not_provided		 0.76517 0.73982 HOM Link to ClinVar
676091 658089 Benign not_provided . . HET Link to ClinVar
256750 250042 Benign not_specified 0.19623 0.22724 HET Link to ClinVar
682710 657959 Benign not_provided . . HET Link to ClinVar
676092 658003 Benign not_provided . . HET Link to ClinVar
676094 658006 Benign not_provided . . HET Link to ClinVar
677943 657960 Benign not_provided . . HET Link to ClinVar
679283 658096 Benign not_provided . . HET Link to ClinVar
198432 195593 Benign Glycogen_storage_disease_type_III
not_specified
not_provided		 0.72141 0.76258 HET Link to ClinVar
256751 250046 Benign not_specified
not_provided		 0.73142 0.74341 HET Link to ClinVar
680037 658117 Benign not_provided . . HET Link to ClinVar
256730 250058 Benign Glycogen_storage_disease_type_III
not_specified
not_provided		 0.68976 0.68111 HET Link to ClinVar
256734 250062 Benign/Likely_benign Glycogen_storage_disease_type_III
not_specified
not_provided		 0.13613 0.11062 HET Link to ClinVar
256735 250063 Benign not_specified
not_provided		 0.6912 0.68151 HET Link to ClinVar
682727 658121 Benign not_provided . . HET Link to ClinVar
680038 658125 Benign not_provided . . HET Link to ClinVar
680039 658124 Benign not_provided . . HET Link to ClinVar
291359 283552 Benign Glycogen_storage_disease_type_III . 0.59045 HET Link to ClinVar
291395 275557 Benign Maple_syrup_urine_disease . 0.76677 HOM Link to ClinVar
291396 275589 Uncertain_significance Maple_syrup_urine_disease . . HET Link to ClinVar
291404 275613 Benign Maple_syrup_urine_disease . 0.80072 HOM Link to ClinVar
291407 275571 Benign Maple_syrup_urine_disease . 0.76957 HOM Link to ClinVar
291424 275625 Benign Maple_syrup_urine_disease . 0.76957 HOM Link to ClinVar
128885 134332 Benign Maple_syrup_urine_disease
not_specified		 0.91377 0.89177 HOM Link to ClinVar
681221 656866 Benign not_provided . . HOM Link to ClinVar
681220 656835 Benign not_provided . . HOM Link to ClinVar
681219 656873 Benign not_provided . . HOM Link to ClinVar
776339 695917 Benign not_provided . . HET Link to ClinVar
682965 656814 Benign not_provided . . HET Link to ClinVar
291477 275622 Benign Marshall_syndrome
Fibrochondrogenesis_1
Stickler_Syndrome,_Dominant		 . 0.22444 HET Link to ClinVar
681209 656841 Benign not_provided . . HET Link to ClinVar
681208 656816 Benign not_provided . . HET Link to ClinVar
681207 656844 Benign not_provided . . HET Link to ClinVar
258470 249270 Benign Marshall_syndrome
Fibrochondrogenesis_1
not_specified
Stickler_Syndrome,_Dominant		 0.58015 0.48463 HET Link to ClinVar
258467 249273 Benign not_specified 0.13542 0.17352 HET Link to ClinVar
17137 32176 Benign Marshall_syndrome
Lumbar_disc_herniation,_susceptibility_to
Fibrochondrogenesis_1
not_specified
Stickler_Syndrome,_Dominant		 0.79416 0.78295 HET Link to ClinVar
258466 249274 Benign Marshall_syndrome
Fibrochondrogenesis_1
not_specified
Stickler_Syndrome,_Dominant		 0.72387 0.6226 HET Link to ClinVar
258465 249275 Benign not_specified . 0.17372 HET Link to ClinVar
681203 656837 Benign not_provided . . HET Link to ClinVar
258461 249279 Benign Marshall_syndrome
Fibrochondrogenesis_1
not_specified
Stickler_Syndrome,_Dominant		 0.59155 0.49661 HET Link to ClinVar
516177 497941 Benign not_specified . . HOM Link to ClinVar
681201 656854 Benign not_provided . . HOM Link to ClinVar
681200 656865 Benign not_provided . . HOM Link to ClinVar
681199 656867 Benign not_provided . . HOM Link to ClinVar
681198 656895 Benign not_provided . . HOM Link to ClinVar
674756 656897 Benign not_provided . . HOM Link to ClinVar
258445 249292 Benign not_specified 0.69125 0.62919 HOM Link to ClinVar
674755 656882 Benign not_provided . . HOM Link to ClinVar
674754 656884 Benign not_provided . . HOM Link to ClinVar
258443 249294 Benign not_specified
not_provided		 0.95364 0.92392 HOM Link to ClinVar
674752 656887 Benign not_provided . . HOM Link to ClinVar
681197 656893 Benign not_provided . . HOM Link to ClinVar
674751 656896 Benign not_provided . . HOM Link to ClinVar
674750 656903 Benign not_provided . . HOM Link to ClinVar
674749 656905 Benign not_provided . . HOM Link to ClinVar
218828 215177 Benign not_specified . . HOM Link to ClinVar
258450 249303 Benign not_specified
not_provided		 0.5918 0.57628 HOM Link to ClinVar
674747 656914 Benign not_provided . . HOM Link to ClinVar
681360 656944 Benign not_provided . . HOM Link to ClinVar
681782 656975 Benign not_provided . . HET Link to ClinVar
683318 656976 Benign not_provided . . HOM Link to ClinVar
226649 228257 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive
not_provided		 . . HOM Link to ClinVar
681784 656980 Benign not_provided . . HET Link to ClinVar
291711 276041 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.36821 HET Link to ClinVar
291714 276043 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.20707 HET Link to ClinVar
259744 249359 Benign Achromatopsia
not_specified		 0.44904 0.37859 HET Link to ClinVar
677169 656955 Benign not_provided . . HET Link to ClinVar
683550 656981 Benign not_provided . . HET Link to ClinVar
682043 656919 Benign not_provided . . HOM Link to ClinVar
683889 656983 Benign not_provided . . HET Link to ClinVar
291827 276274 Likely_benign Hyperinsulinism,_Dominant . 0.24701 HET Link to ClinVar
291831 276277 Likely_benign Hyperinsulinism,_Dominant . 0.67552 HOM Link to ClinVar
130315 135762 Benign/Likely_benign not_specified
Hyperinsulinism,_Dominant		 0.59721 0.67672 HOM Link to ClinVar
260443 249366 Benign not_specified . . HOM Link to ClinVar
769239 777012 Benign not_provided . . HOM Link to ClinVar
8910 23949 risk_factor Diabetes_mellitus,_insulin-dependent,_susceptibility_to . 0.74701 HOM Link to ClinVar
157718 167566 Benign History_of_neurodevelopmental_disorder
Spastic_paraplegia_47,_autosomal_recessive
not_specified		 0.31864 0.377 HET Link to ClinVar
380767 364302 Benign not_specified . 0.32947 HET Link to ClinVar
291946 275943 Likely_benign Noonan_syndrome . . HET Link to ClinVar
291967 276416 Likely_benign Noonan_syndrome . 0.15096 HET Link to ClinVar
561821 552484 Benign not_provided . 0.8764 HET Link to ClinVar
256640 249367 Benign Congenital_hypothyroidism
Secondary_hypothyroidism
not_specified		 0.97066 0.98363 HOM Link to ClinVar
291993 276307 Benign Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers 0.36557 0.2474 HET Link to ClinVar
667672 656988 Benign not_provided . . HET Link to ClinVar
292005 276198 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 0.1421 0.11502 HOM Link to ClinVar
292017 276462 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.06669 HET Link to ClinVar
292018 276201 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.06669 HET Link to ClinVar
292020 276202 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.73942 HOM Link to ClinVar
292025 276336 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.73942 HOM Link to ClinVar
292027 276337 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.0653 HET Link to ClinVar
292052 276395 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.44209 HOM Link to ClinVar
292054 276234 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.07308 HET Link to ClinVar
292057 276235 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.10244 HET Link to ClinVar
292066 276023 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.07328 HET Link to ClinVar
292067 276398 Likely_benign Neural_tube_defect
Caudal_dysgenesis_syndrome		 . 0.33766 HET Link to ClinVar
292075 276248 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.4401 HOM Link to ClinVar
292076 276408 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.17552 HOM Link to ClinVar
292084 276527 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.17532 HOM Link to ClinVar
292088 276533 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.42332 HOM Link to ClinVar
292095 276037 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.4375 HOM Link to ClinVar
292097 276256 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.42312 HOM Link to ClinVar
292101 276450 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.42312 HOM Link to ClinVar
292106 276480 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.17572 HOM Link to ClinVar
292107 276262 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.07228 HET Link to ClinVar
292112 276263 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.10224 HET Link to ClinVar
292113 276264 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . . HOM Link to ClinVar
292118 276578 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . . HET Link to ClinVar
292120 276271 Benign/Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.71785 HOM Link to ClinVar
292122 276272 Benign/Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.70088 HOM Link to ClinVar
292124 276056 Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome		 . 0.10363 HET Link to ClinVar
44157 53325 Benign/Likely_benign Neural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
Ventricular_tachycardia,_catecholaminergic_polymorphic,_2
not_specified
Cardiovascular_phenotype		 0.38379 0.42572 HOM Link to ClinVar
672186 656936 Benign not_provided . . HET Link to ClinVar
683295 656990 Benign not_provided . . HET Link to ClinVar
683294 656992 Benign not_provided . . HET Link to ClinVar
683293 656993 Benign not_provided . . HET Link to ClinVar
257653 249368 Benign not_specified 0.34862 0.42871 HET Link to ClinVar
257652 249369 Benign Ventricular_tachycardia,_catecholaminergic_polymorphic,_2
not_specified		 . 0.64277 HET Link to ClinVar
672065 656948 Benign not_provided . . HET Link to ClinVar
671742 657041 Benign not_provided . . HET Link to ClinVar
683292 657044 Benign not_provided . . HET Link to ClinVar
44163 53331 Benign Catecholaminergic_polymorphic_ventricular_tachycardia
Ventricular_tachycardia,_catecholaminergic_polymorphic,_2
not_specified		 0.78717 0.64357 HOM Link to ClinVar
671741 656994 Benign not_provided . . HOM Link to ClinVar
672064 657011 Benign not_provided . . HOM Link to ClinVar
678455 656996 Benign not_provided . . HOM Link to ClinVar
683291 657015 Benign not_provided . . HOM Link to ClinVar
672063 657016 Benign not_provided . . HOM Link to ClinVar
292299 276862 Benign Phosphoglycerate_dehydrogenase_deficiency . 0.69828 HET Link to ClinVar
292300 276166 Benign Phosphoglycerate_dehydrogenase_deficiency . 0.81749 HET Link to ClinVar
292306 276179 Likely_benign Phosphoglycerate_dehydrogenase_deficiency 0.00497 0.01877 HET Link to ClinVar
292321 276452 Benign Phosphoglycerate_dehydrogenase_deficiency
not_provided		 0.69241 0.72224 HET Link to ClinVar
292326 276923 Uncertain_significance mitochondrial_3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency . . HET Link to ClinVar
684188 657050 Benign not_provided . . HET Link to ClinVar
684183 657022 Benign not_provided . . HET Link to ClinVar
261702 249380 Benign Hajdu-Cheney_syndrome
not_specified		 0.02218 0.07109 HET Link to ClinVar
769527 696066 Likely_benign not_provided . . HET Link to ClinVar
769243 696065 Benign not_provided . . HET Link to ClinVar
403294 390579 Benign not_specified . . HET Link to ClinVar
767694 776998 Benign not_provided . . HET Link to ClinVar
292441 276310 Likely_benign Familial_atrial_fibrillation . 0.06749 HET Link to ClinVar
292456 276317 Likely_benign Familial_atrial_fibrillation . 0.1883 HET Link to ClinVar
368828 353057 Likely_benign Familial_atrial_fibrillation . 0.97484 HOM Link to ClinVar
368829 353058 Likely_benign Familial_atrial_fibrillation . 0.1883 HET Link to ClinVar
680801 657024 Benign not_provided . . HET Link to ClinVar
680803 657029 Benign not_provided . . HET Link to ClinVar
680805 657075 Benign not_provided . . HET Link to ClinVar
676428 657069 Benign not_provided . . HET Link to ClinVar
381175 364442 Benign not_specified 0.04055 0.04633 HET Link to ClinVar
680806 657030 Benign not_provided . . HET Link to ClinVar
676429 657083 Benign not_provided . . HET Link to ClinVar
261076 249390 Benign Ectopia_lentis
Ectopia_lentis_et_pupillae
not_specified		 0.90669 0.8145 HOM Link to ClinVar
261077 249391 Benign Ectopia_lentis
Ectopia_lentis_et_pupillae
not_specified		 0.86757 0.8784 HOM Link to ClinVar
517011 498023 Benign not_specified 0.97677 0.92153 HOM Link to ClinVar
292600 276632 Benign Bare_lymphocyte_syndrome_2 . 0.628 HOM Link to ClinVar
292605 276401 Benign Bare_lymphocyte_syndrome_2 . 0.76438 HOM Link to ClinVar
292612 277245 Benign/Likely_benign Bare_lymphocyte_syndrome_2
not_specified		 0.11875 0.0635 HOM Link to ClinVar
403373 389326 Benign not_specified 0.99335 0.97804 HOM Link to ClinVar
402868 389322 Benign not_specified 0.03066 0.01298 HET Link to ClinVar
292625 277165 Benign Nemaline_myopathy
Congenital_fiber-type_disproportion		 . 0.32149 HET Link to ClinVar
292652 277319 Uncertain_significance Nemaline_myopathy
Congenital_fiber-type_disproportion		 . 0.0002 HET Link to ClinVar
292666 277341 Benign Nemaline_myopathy
Congenital_fiber-type_disproportion		 . 0.32009 HET Link to ClinVar
292677 277239 Benign Nemaline_myopathy
Congenital_fiber-type_disproportion		 . . HET Link to ClinVar
292682 276481 Benign Nemaline_myopathy
Congenital_fiber-type_disproportion		 . 0.32288 HET Link to ClinVar
262627 249393 Benign not_specified
not_provided		 0.60767 0.73223 HET Link to ClinVar
259917 249399 Benign/Likely_benign Severe_congenital_neutropenia
not_specified		 0.1136 0.07528 HET Link to ClinVar
14660 29699 association Interleukin_6,_serum_level_of,_quantitative_trait_locus
Soluble_interleukin-6_receptor,_serum_level_of,_quantitative_trait_locus		 0.37562 0.29313 HOM Link to ClinVar
292713 277338 Uncertain_significance Symmetrical_dyschromatosis_of_extremities . . HOM Link to ClinVar
292717 276509 Benign Symmetrical_dyschromatosis_of_extremities . 0.59804 HOM Link to ClinVar
292721 276511 Benign Symmetrical_dyschromatosis_of_extremities . 0.19469 HET Link to ClinVar
292729 277418 Benign Symmetrical_dyschromatosis_of_extremities . 0.59784 HOM Link to ClinVar
292734 276770 Benign Symmetrical_dyschromatosis_of_extremities . 0.39497 HOM Link to ClinVar
292740 277437 Benign Symmetrical_dyschromatosis_of_extremities . 0.39617 HOM Link to ClinVar
257475 249407 Benign Symmetrical_dyschromatosis_of_extremities
not_specified		 0.463 0.38878 HOM Link to ClinVar
195112 192273 Benign Symmetrical_dyschromatosis_of_extremities
not_specified		 0.69561 0.6226 HOM Link to ClinVar
500335 491759 Benign not_specified 0.99876 0.99621 HOM Link to ClinVar
257476 249409 Benign Symmetrical_dyschromatosis_of_extremities
not_specified		 0.99916 0.99701 HOM Link to ClinVar
403001 389335 Benign not_specified . 0.53534 . Link to ClinVar
403002 389312 Benign not_specified 0.76157 0.77915 HET Link to ClinVar
256871 249411 Benign not_specified
not_provided		 0.98423 0.9409 HOM Link to ClinVar
181519 178910 Benign not_specified
not_provided		 0.87719 0.77975 HOM Link to ClinVar
561495 552490 Benign not_provided . 0.85024 HOM Link to ClinVar
227047 228267 Benign not_specified
not_provided		 0.87746 0.77995 HOM Link to ClinVar
561403 552497 Benign not_provided . 0.35623 HOM Link to ClinVar
674310 655043 Benign not_provided . . HOM Link to ClinVar
683622 657048 Benign not_provided . . HET Link to ClinVar
668922 657087 Benign not_provided . . HET Link to ClinVar
683613 657090 Benign not_provided . . HET Link to ClinVar
672751 657094 Benign not_provided . . HET Link to ClinVar
672752 657095 Benign not_provided . . HET Link to ClinVar
672778 657102 Benign not_provided . . HET Link to ClinVar
672779 657096 Benign not_provided . . HET Link to ClinVar
672780 657112 Benign not_provided . . HET Link to ClinVar
672781 657110 Benign not_provided . . HET Link to ClinVar
192190 189381 Benign Hutchinson-Gilford_syndrome
not_specified		 0.16301 0.19768 HET Link to ClinVar
668923 657104 Benign not_provided . . HET Link to ClinVar
672782 657111 Benign not_provided . . HET Link to ClinVar
683614 657115 Benign not_provided . . HET Link to ClinVar
672783 657051 Benign not_provided . . HET Link to ClinVar
48071 57235 Benign/Likely_benign Cardiomyopathy
Hutchinson-Gilford_syndrome
Charcot-Marie-Tooth_disease,_type_2
Familial_partial_lipodystrophy
Lethal_tight_skin_contracture_syndrome
Emery-Dreifuss_muscular_dystrophy
Mandibuloacral_dysplasia
Congenital_muscular_dystrophy,_LMNA-related
not_specified
Cardiovascular_phenotype
Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.00972 0.00799 HET Link to ClinVar
48088 57252 Benign Cardiomyopathy
Hutchinson-Gilford_syndrome
Charcot-Marie-Tooth_disease,_type_2
Familial_partial_lipodystrophy
Lethal_tight_skin_contracture_syndrome
Emery-Dreifuss_muscular_dystrophy
Mandibuloacral_dysplasia
Congenital_muscular_dystrophy,_LMNA-related
not_specified
Cardiovascular_phenotype
Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.10943 0.19309 HET Link to ClinVar
683061 657105 Benign not_provided . . HET Link to ClinVar
36474 45136 Benign/Likely_benign Primary_dilated_cardiomyopathy
not_specified
not_provided		 0.10765 0.19229 HET Link to ClinVar
48037 57201 Benign Cardiomyopathy
Hutchinson-Gilford_syndrome
Charcot-Marie-Tooth_disease,_type_2
Familial_partial_lipodystrophy
Lethal_tight_skin_contracture_syndrome
Emery-Dreifuss_muscular_dystrophy
Mandibuloacral_dysplasia
Limb-girdle_muscular_dystrophy,_type_1B
Charcot-Marie-Tooth_disease_type_2B1
Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive
Congenital_muscular_dystrophy,_LMNA-related
not_specified
Cardiovascular_phenotype
Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 . 0.2492 HET Link to ClinVar
672784 657120 Benign not_provided . . HET Link to ClinVar
66834 77731 Benign not_specified
not_provided		 0.10637 0.18231 HET Link to ClinVar
683615 657114 Benign not_provided . . HET Link to ClinVar
683062 657123 Benign not_provided . . HET Link to ClinVar
66756 77653 not_provided not_provided . 0.1853 HET Link to ClinVar
261576 249423 Benign not_specified
Cone-Rod_Dystrophy,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided		 0.52725 0.43091 HET Link to ClinVar
3362 18401 Benign/Likely_benign Retinitis_pigmentosa_35
not_specified
Cone-Rod_Dystrophy,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided		 0.03541 0.02177 HET Link to ClinVar
667736 657124 Benign not_provided . . HOM Link to ClinVar
380853 364541 Benign not_specified 0.66741 0.63698 HOM Link to ClinVar
667767 657128 Benign not_provided . . HOM Link to ClinVar
667768 657107 Benign not_provided . . HOM Link to ClinVar
667738 657082 Benign not_provided . . HET Link to ClinVar
667741 657129 Benign not_provided . . HOM Link to ClinVar
667743 657131 Benign not_provided . . HET Link to ClinVar
667763 657109 Benign not_provided . . HET Link to ClinVar
667764 657091 Benign not_provided . . HET Link to ClinVar
292891 277584 Benign/Likely_benign Hereditary_insensitivity_to_pain_with_anhidrosis
not_specified
not_provided		 0.0625 0.08926 HET Link to ClinVar
138564 142267 Benign Hereditary_insensitivity_to_pain_with_anhidrosis
not_specified		 0.57236 0.33407 HET Link to ClinVar
138565 142268 Benign not_specified 0.06409 0.1224 HET Link to ClinVar
667765 657121 Benign not_provided . . HOM Link to ClinVar
667766 657130 Benign not_provided . . HOM Link to ClinVar
670556 657097 Benign not_provided . . HOM Link to ClinVar
292917 277518 Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
Spherocytosis,_Recessive		 . . HET Link to ClinVar
292920 276935 Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
Spherocytosis,_Recessive		 . 0.50399 HET Link to ClinVar
258958 249424 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.53849 0.50479 HET Link to ClinVar
258957 249425 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.53735 0.50619 HET Link to ClinVar
292947 276686 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 . . HET Link to ClinVar
258955 249427 Conflicting_interpretations_of_pathogenicity Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 . 0.49101 HET Link to ClinVar
258943 249439 Conflicting_interpretations_of_pathogenicity Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.27368 0.24561 HET Link to ClinVar
258942 249440 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 . 0.59405 HET Link to ClinVar
258930 249450 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.25339 0.22824 HET Link to ClinVar
258929 249451 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.99826 0.99461 HOM Link to ClinVar
258926 249454 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.30927 0.42352 HET Link to ClinVar
258922 249458 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 . 0.24361 HET Link to ClinVar
293028 276726 Uncertain_significance Elliptocytosis
Hereditary_pyropoikilocytosis
Spherocytosis,_Recessive		 . . HET Link to ClinVar
258917 249462 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.39991 0.35423 HET Link to ClinVar
258962 249465 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.98497 0.95687 HOM Link to ClinVar
258961 249466 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.54491 0.45387 HET Link to ClinVar
258959 249468 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.98494 0.95687 HOM Link to ClinVar
258916 249471 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.99197 0.96985 HOM Link to ClinVar
258920 249472 Benign/Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive		 0.99195 0.96985 HOM Link to ClinVar
293066 277611 Likely_benign Elliptocytosis
Hereditary_pyropoikilocytosis
Spherocytosis,_Recessive		 . . HET Link to ClinVar
293090 276775 Likely_benign Pendred_syndrome
Seizures,_Sensorineural_Deafness,_Ataxia,_Intellectual_Disability,_and_Electrolyte_Imbalance_Syndrome
Nonsyndromic_Hearing_Loss,_Mixed		 . 0.48103 HOM Link to ClinVar
293091 277643 Benign Pendred_syndrome
Seizures,_Sensorineural_Deafness,_Ataxia,_Intellectual_Disability,_and_Electrolyte_Imbalance_Syndrome
Nonsyndromic_Hearing_Loss,_Mixed		 . 0.9982 HOM Link to ClinVar
293102 276778 Benign Pendred_syndrome
Seizures,_Sensorineural_Deafness,_Ataxia,_Intellectual_Disability,_and_Electrolyte_Imbalance_Syndrome
Nonsyndromic_Hearing_Loss,_Mixed		 . 0.86282 HOM Link to ClinVar
668000 657100 Benign not_provided . . HOM Link to ClinVar
678200 657103 Benign not_provided . . HET Link to ClinVar
668017 657133 Benign not_provided . . HET Link to ClinVar
670739 657139 Benign not_provided . . HOM Link to ClinVar
166705 177497 Benign Familial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
not_specified		 . . HET Link to ClinVar
668975 657142 Benign not_provided . . HET Link to ClinVar
197163 194324 Benign not_specified 0.98491 0.94249 HOM Link to ClinVar
670740 657155 Benign not_provided . . HOM Link to ClinVar
674717 657126 Benign not_provided . . HOM Link to ClinVar
678076 657135 Benign not_provided . . HOM Link to ClinVar
668018 657106 Benign not_provided . . HOM Link to ClinVar
670755 657134 Benign not_provided . . HOM Link to ClinVar
670756 657116 Benign not_provided . . HOM Link to ClinVar
128477 133926 Benign Familial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
not_specified
not_provided		 . 0.20967 HOM Link to ClinVar
671340 657187 Benign not_provided . . HET Link to ClinVar
293147 277097 Likely_benign Familial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood		 . 0.20887 HOM Link to ClinVar
293160 277810 Likely_benign Familial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood		 . 0.21246 HOM Link to ClinVar
293162 277121 Likely_benign Familial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood		 . 0.21246 HOM Link to ClinVar
293175 276850 Benign Familial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood		 . . HOM Link to ClinVar
293179 277817 Likely_benign Familial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood		 . 0.21286 HOM Link to ClinVar
293189 277710 Likely_benign Familial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood		 . 0.21785 HOM Link to ClinVar
293196 277712 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) 0.56415 0.45228 HOM Link to ClinVar
4895 19934 risk_factor Rheumatoid_arthritis . 0.5615 HOM Link to ClinVar
293238 277167 Likely_benign Variegate_porphyria . 0.35923 HET Link to ClinVar
293244 277833 Likely_benign Variegate_porphyria . 0.02177 HET Link to ClinVar
671138 657138 Benign not_provided . . HOM Link to ClinVar
129697 135143 Likely_benign Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.07844 0.04932 HET Link to ClinVar
678042 657160 Benign not_provided . . HOM Link to ClinVar
293292 277897 Likely_benign Apolipoprotein_A-II_deficiency 0.11352 0.10304 HET Link to ClinVar
197772 194933 Benign not_specified 0.35343 0.33626 HET Link to ClinVar
293304 277907 Benign Roussy-Lévy_syndrome
Charcot-Marie-Tooth_disease,_type_I
Congenital_hypomyelinating_neuropathy_1,_autosomal_recessive
Charcot-Marie-Tooth,_Intermediate		 . 0.13638 HOM Link to ClinVar
683189 657140 Benign not_provided . . HOM Link to ClinVar
667646 657151 Benign not_provided . . HOM Link to ClinVar
683188 657168 Benign not_provided . . HOM Link to ClinVar
14823 29862 drug_response Lupus_nephritis,_susceptibility_to
Pseudomonas_aeruginosa,_susceptibility_to_chronic_infection_by,_in_cystic_fibrosis
Malaria,_severe,_susceptibility_to
not_specified
trastuzumab_response_-_Efficacy		 0.4791 0.44169 HET Link to ClinVar
242685 45587 Benign not_provided 0.58873 0.53295 HOM Link to ClinVar
801568 789872 Benign Achromatopsia_7 . . HET Link to ClinVar
801572 789876 Benign Achromatopsia_7 . . HOM Link to ClinVar
259936 249489 Benign not_specified 0.99235 0.97045 HOM Link to ClinVar
259930 249493 Benign not_specified . 0.94549 HOM Link to ClinVar
259932 249495 Benign not_specified . 0.99241 HOM Link to ClinVar
293388 278133 Benign Spondyloepimetaphyseal_dysplasia . . HOM Link to ClinVar
767724 777031 Benign not_provided . . HET Link to ClinVar
252576 246866 Benign not_specified . . HET Link to ClinVar
293481 277084 Benign Adrenocorticotropic_hormone_deficiency . 0.48942 HET Link to ClinVar
293497 277351 Benign Adrenocorticotropic_hormone_deficiency . . HET Link to ClinVar
293520 278187 Benign Thiamine-responsive_megaloblastic_anemia
Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness		 . 0.9976 HOM Link to ClinVar
683854 657157 Benign not_provided . . HET Link to ClinVar
683850 657162 Benign not_provided . . HET Link to ClinVar
293541 278256 Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance		 . 0.91234 HOM Link to ClinVar
293546 277166 Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance		 . 0.27556 HET Link to ClinVar
293554 278264 Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance		 . 0.47744 HET Link to ClinVar
255211 249500 Benign/Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified		 0.93257 0.9363 HOM Link to ClinVar
255210 249501 Conflicting_interpretations_of_pathogenicity Thrombophilia_due_to_activated_protein_C_resistance
not_specified
not_provided		 0.33506 0.30871 HET Link to ClinVar
255208 249503 Benign/Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified		 0.29582 0.18211 HET Link to ClinVar
255202 249507 Benign/Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified		 0.27366 0.26278 HET Link to ClinVar
255201 249508 Benign/Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified		 0.27377 0.26278 HET Link to ClinVar
255200 249509 Conflicting_interpretations_of_pathogenicity Thrombophilia_due_to_activated_protein_C_resistance
not_specified
not_provided		 0.27684 0.26677 HET Link to ClinVar
255196 249512 Benign/Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified		 0.27365 0.26278 HET Link to ClinVar
255194 249514 Benign/Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified		 0.27368 0.26278 HET Link to ClinVar
255193 249515 Benign/Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified		 0.27361 0.26278 HET Link to ClinVar
226007 227743 drug_response hormonal_contraceptives_for_systemic_use_response_-_Toxicity/ADR
not_provided		 0.9785 0.99401 HOM Link to ClinVar
255197 249526 Benign/Likely_benign Budd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified		 0.31354 0.22644 HET Link to ClinVar
13527 28566 Benign SELECTIN_P_POLYMORPHISM 0.08208 0.03594 HET Link to ClinVar
262629 249533 Benign Geroderma_osteodysplastica
not_specified		 . 0.59265 HET Link to ClinVar
260074 249539 Benign not_specified 0.50485 0.53854 HET Link to ClinVar
260076 249541 Benign Trimethylaminuria
not_specified		 . 0.19888 HET Link to ClinVar
16305 31344 Benign/Likely_benign Trimethylaminuria
not_specified		 0.08052 0.09764 HET Link to ClinVar
767726 696269 Benign not_provided . . HET Link to ClinVar
293709 277613 Benign/Likely_benign Glaucoma
Primary_open_angle_glaucoma
not_specified		 . 0.01218 HET Link to ClinVar
595495 586557 Benign not_specified 0.8747 0.92412 HET Link to ClinVar
683703 657200 Benign not_provided . . HET Link to ClinVar
224486 226216 Benign Steroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant		 . 0.90176 HOM Link to ClinVar
224485 226217 Likely_benign Steroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant		 . 0.28315 HET Link to ClinVar
224483 226219 Benign Steroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant		 . 0.90515 HOM Link to ClinVar
293845 278562 Likely_benign Steroid-resistant_nephrotic_syndrome . 0.58786 HOM Link to ClinVar
260432 249553 Benign/Likely_benign Steroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant
not_specified
not_provided		 . 0.58766 HOM Link to ClinVar
260424 249559 Benign Steroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant
not_specified		 0.96157 0.93091 HOM Link to ClinVar
225144 227036 Likely_benign Steroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant		 0.36538 0.18331 HET Link to ClinVar
257699 249561 Benign not_specified . 0.60883 HOM Link to ClinVar
257701 249563 Conflicting_interpretations_of_pathogenicity Muscular_dystrophy,_limb-girdle,_type_2y
not_specified		 0.64659 0.63538 HOM Link to ClinVar
257703 249565 Benign not_specified . 0.58406 HOM Link to ClinVar
257698 249568 Benign not_specified 0.9485 0.91853 HOM Link to ClinVar
293866 278580 Likely_benign Combined_Pituitary_Hormone_Deficiency,_Dominant 0.0665 0.04133 HET Link to ClinVar
262225 249572 Benign Pituitary_hormone_deficiency,_combined_4
not_specified
Combined_Pituitary_Hormone_Deficiency,_Dominant		 0.48502 0.42632 HET Link to ClinVar
293882 277506 Benign Glutamine_deficiency,_congenital . 0.67572 HET Link to ClinVar
293891 277529 Benign Glutamine_deficiency,_congenital . 0.71346 HET Link to ClinVar
293893 278611 Benign Glutamine_deficiency,_congenital . 1 HOM Link to ClinVar
293902 277558 Benign Glutamine_deficiency,_congenital . 0.85463 HOM Link to ClinVar
293903 277731 Benign Glutamine_deficiency,_congenital . . HOM Link to ClinVar
293925 277624 Benign Glutamine_deficiency,_congenital . 0.67033 HET Link to ClinVar
293934 278734 Benign Glutamine_deficiency,_congenital . 0.67572 HET Link to ClinVar
293949 277633 Benign Glutamine_deficiency,_congenital 0.57481 0.67572 HET Link to ClinVar
293950 277634 Likely_benign Glutamine_deficiency,_congenital . 0.01098 HET Link to ClinVar
293962 278664 Benign Glutamine_deficiency,_congenital . 0.85743 HOM Link to ClinVar
293966 278773 Benign Glutamine_deficiency,_congenital . 0.85663 HOM Link to ClinVar
293971 277777 Likely_benign Glutamine_deficiency,_congenital . 0.09325 HET Link to ClinVar
293983 278713 Benign Epidermolysis_bullosa,_junctional 0.3799 0.27476 HET Link to ClinVar
259785 249573 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.47386 0.49621 HET Link to ClinVar
294155 277933 Likely_benign Macular_degeneration 0.42709 0.34305 HET Link to ClinVar
294183 277951 Benign/Likely_benign Macular_degeneration
Age-related_macular_degeneration_1		 0.5389 0.52995 HET Link to ClinVar
294186 278860 Likely_benign Macular_degeneration 0.59797 0.65435 HET Link to ClinVar
96208 102102 Benign/Likely_benign Macular_degeneration
Age-related_macular_degeneration_1
not_specified		 0.54528 0.58267 HET Link to ClinVar
294201 278898 Likely_benign Macular_degeneration 0.57832 0.66134 HET Link to ClinVar
294231 279089 Likely_benign Macular_degeneration . 0.67552 HET Link to ClinVar
294323 278073 Likely_benign Macular_degeneration . 0.18331 HET Link to ClinVar
518309 508763 Benign Camptodactyly_arthropathy_coxa_vara_pericarditis_syndrome 0.305 0.23163 HOM Link to ClinVar
518311 508765 Benign Camptodactyly_arthropathy_coxa_vara_pericarditis_syndrome 0.30159 0.22125 HOM Link to ClinVar
692303 680086 Uncertain_significance Fetal_akinesia_sequence
Arthrogryposis_multiplex_congenita		 . . HET Link to ClinVar
676807 657203 Benign not_provided . . HET Link to ClinVar
294429 279150 Uncertain_significance Parathyroid_carcinoma
Hyperparathyroidism_2
Isolated_Hyperparathyroidism		 . . HET Link to ClinVar
294488 279197 Benign Macular_degeneration
Mesangiocapillary_glomerulonephritis,_type_II
Basal_laminar_drusen
Atypical_hemolytic_uremic_syndrome		 0.66662 0.71306 HET Link to ClinVar
294490 278205 Benign Macular_degeneration
Mesangiocapillary_glomerulonephritis,_type_II
Basal_laminar_drusen
Atypical_hemolytic_uremic_syndrome		 0.67207 0.73343 HET Link to ClinVar
294498 278184 Benign Macular_degeneration
Mesangiocapillary_glomerulonephritis,_type_II
Basal_laminar_drusen
Atypical_hemolytic_uremic_syndrome		 0.19474 0.20288 HET Link to ClinVar
294509 278188 Benign Macular_degeneration
Mesangiocapillary_glomerulonephritis,_type_II
Basal_laminar_drusen
Atypical_hemolytic_uremic_syndrome		 0.19548 0.20328 HET Link to ClinVar
778240 696347 Benign not_provided . . HET Link to ClinVar
294562 278235 Benign Mesangiocapillary_glomerulonephritis,_type_II . 0.27776 HOM Link to ClinVar
294566 278241 Likely_benign Factor_XIII_subunit_B_deficiency . 0.22844 HET Link to ClinVar
258504 249586 Benign Factor_XIII_subunit_B_deficiency
not_specified		 0.52701 0.52496 HET Link to ClinVar
294586 279299 Uncertain_significance Factor_XIII_subunit_B_deficiency 0.00769 0.00339 HET Link to ClinVar
258505 249588 Benign Factor_XIII_subunit_B_deficiency
not_specified		 0.88052 0.78375 HOM Link to ClinVar
16520 31559 Benign Factor_XIII_subunit_B_deficiency
Venous_thrombosis,_susceptibility_to
not_specified		 0.87197 0.76178 HOM Link to ClinVar
294591 278274 Benign Primary_Microcephaly,_Recessive . 0.78235 HOM Link to ClinVar
678055 657204 Benign not_provided . . HOM Link to ClinVar
157775 167622 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided		 0.87863 0.78275 HOM Link to ClinVar
673924 657210 Benign not_provided . . HOM Link to ClinVar
673923 657173 Benign not_provided . . HOM Link to ClinVar
673922 657196 Benign not_provided . . HOM Link to ClinVar
668875 657198 Benign not_provided . . HET Link to ClinVar
157902 167749 Benign not_specified
not_provided		 0.34806 0.21426 HET Link to ClinVar
667999 657205 Benign not_provided . . HOM Link to ClinVar
678054 657208 Benign not_provided . . HOM Link to ClinVar
21611 34463 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided		 . 0.21426 HET Link to ClinVar
21605 34457 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided		 0.34089 0.21426 HET Link to ClinVar
21604 34456 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided		 . 0.21426 HET Link to ClinVar
21602 34454 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive		 0.88756 0.8159 HOM Link to ClinVar
21599 34451 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive		 0.9956 0.9974 HOM Link to ClinVar
21593 34445 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive		 0.34078 0.21306 HET Link to ClinVar
21586 34438 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive		 0.34389 0.21446 HET Link to ClinVar
673911 657216 Benign not_provided . . HOM Link to ClinVar
21578 34430 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive		 0.87788 0.78255 HOM Link to ClinVar
678194 657220 Benign not_provided . . HET Link to ClinVar
670423 657224 Benign not_provided . . HOM Link to ClinVar
21573 34425 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive		 0.28011 0.21665 HET Link to ClinVar
678053 657214 Benign not_provided . . HOM Link to ClinVar
667998 657225 Benign not_provided . . HOM Link to ClinVar
673910 657215 Benign not_provided . . HET Link to ClinVar
678051 657227 Benign not_provided . . HOM Link to ClinVar
678190 657238 Benign not_provided . . HET Link to ClinVar
673909 657219 Benign not_provided . . HOM Link to ClinVar
678050 657234 Benign not_provided . . HOM Link to ClinVar
157788 167635 Benign not_specified
not_provided		 0.87788 0.78255 HOM Link to ClinVar
95890 101786 Benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided		 0.86978 0.75559 HOM Link to ClinVar
95888 101784 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive		 0.87038 0.75559 HOM Link to ClinVar
96660 102553 Benign Leber_congenital_amaurosis
Pigmented_paravenous_chorioretinal_atrophy
not_specified
Retinitis_Pigmentosa,_Recessive		 0.44571 0.40316 HOM Link to ClinVar
263260 249591 Benign not_specified 0.81841 0.83926 HET Link to ClinVar
166956 177648 Benign not_specified 0.97806 0.91973 HOM Link to ClinVar
427752 417641 Pathogenic Acute_myeloid_leukemia_with_maturation . 0.47724 HET Link to ClinVar
427753 417642 Pathogenic Acute_myeloid_leukemia_with_maturation . 0.51837 HOM Link to ClinVar
427754 417643 Pathogenic Acute_myeloid_leukemia_with_maturation . 0.79573 HOM Link to ClinVar
427755 417644 Pathogenic Acute_myeloid_leukemia_with_maturation . 0.79553 HOM Link to ClinVar
427756 417645 Pathogenic Acute_myeloid_leukemia_with_maturation . 0.82009 HOM Link to ClinVar
767740 696372 Benign not_provided . . HOM Link to ClinVar
678241 657244 Benign not_provided . . HOM Link to ClinVar
199680 196497 Benign Malignant_hyperthermia_susceptibility
Hypokalemic_periodic_paralysis
not_specified
not_provided		 0.77049 0.88039 HOM Link to ClinVar
668057 657255 Benign not_provided . . HOM Link to ClinVar
668880 657228 Benign not_provided . . HOM Link to ClinVar
668056 657233 Benign not_provided . . HOM Link to ClinVar
254826 249614 Benign not_specified 0.01527 0.00439 HET Link to ClinVar
668055 657261 Benign not_provided . . HOM Link to ClinVar
678298 657273 Benign not_provided . . HOM Link to ClinVar
678297 657276 Benign not_provided . . HOM Link to ClinVar
668054 657281 Benign not_provided . . HOM Link to ClinVar
668053 657245 Benign not_provided . . HOM Link to ClinVar
254804 249634 Benign Malignant_hyperthermia_susceptibility
Hypokalemic_periodic_paralysis
not_specified
not_provided		 0.78137 0.75959 HOM Link to ClinVar
678221 657275 Benign not_provided . . HOM Link to ClinVar
678220 657278 Benign not_provided . . HOM Link to ClinVar
678219 657249 Benign not_provided . . HOM Link to ClinVar
678218 657290 Benign not_provided . . HOM Link to ClinVar
678216 657277 Benign not_provided . . HOM Link to ClinVar
254852 249654 Benign Malignant_hyperthermia_susceptibility
Hypokalemic_periodic_paralysis
not_specified
not_provided		 0.38867 0.30511 HOM Link to ClinVar
294795 279712 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.61362 HET Link to ClinVar
294839 278505 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.67193 HOM Link to ClinVar
294846 279643 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.62939 HOM Link to ClinVar
294847 278428 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.80132 HOM Link to ClinVar
294851 278508 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.6274 HOM Link to ClinVar
294854 278432 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.6274 HOM Link to ClinVar
294871 279691 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.90415 HOM Link to ClinVar
294872 278521 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.94669 HOM Link to ClinVar
294886 279700 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.84225 HOM Link to ClinVar
294887 279701 Benign Ectodermal_dysplasia_skin_fragility_syndrome . 0.86422 HOM Link to ClinVar
256845 249665 Benign Familial_hypertrophic_cardiomyopathy_2
not_specified		 0.73349 0.74221 HOM Link to ClinVar
671946 657344 Benign not_provided . . HOM Link to ClinVar
43632 52801 Benign/Likely_benign Cardiomyopathy
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.7194 0.69509 HOM Link to ClinVar
684018 657303 Benign not_provided . . HOM Link to ClinVar
256843 249666 Benign not_specified . 0.28554 HOM Link to ClinVar
671945 657292 Benign not_provided . . HOM Link to ClinVar
684013 657320 Benign not_provided . . HOM Link to ClinVar
8112 23151 risk_factor Asthma-related_traits,_susceptibility_to,_7 . 0.78554 HOM Link to ClinVar
294949 279777 Likely_benign Chitotriosidase_deficiency 0.05698 0.02077 HET Link to ClinVar
677222 655057 Benign not_provided . . HET Link to ClinVar
256380 249672 Benign not_specified . 0.28115 HET Link to ClinVar
403018 389367 Benign not_specified 0.2983 0.22185 HET Link to ClinVar
801606 789914 Benign Epilepsy,_familial_adult_myoclonic,_5 . . HET Link to ClinVar
260658 249674 Benign not_specified 0.30096 0.37141 HET Link to ClinVar
260657 249675 Benign not_specified 0.93167 0.96106 HOM Link to ClinVar
403451 389347 Benign not_specified 0.10549 0.15415 HET Link to ClinVar
403454 389371 Benign not_specified 0.91504 0.91414 HOM Link to ClinVar
16873 31912 protective,_risk_factor Human_immunodeficiency_virus_type_1,_susceptibility_to
Graft-versus-host_disease,_resistance_to		 . 0.5651 HOM Link to ClinVar
402444 389358 Benign not_specified 0.85449 0.85783 HOM Link to ClinVar
810914 799152 Benign not_specified . . HET Link to ClinVar
402562 389350 Benign not_specified 0.88354 0.94289 HET Link to ClinVar
294983 278756 Benign Atypical_hemolytic_uremic_syndrome . 0.34724 HET Link to ClinVar
368859 353088 Benign Epidermolysis_bullosa,_junctional . 0.77476 HET Link to ClinVar
295059 280031 Benign Epidermolysis_bullosa,_junctional . 0.29513 HET Link to ClinVar
255590 249681 Benign Epidermolysis_bullosa,_junctional
not_specified
not_provided		 0.95669 0.98363 HOM Link to ClinVar
255587 249684 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.75645 0.76498 HET Link to ClinVar
255598 249689 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.84717 0.82328 HET Link to ClinVar
255596 249691 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.36248 0.24541 HET Link to ClinVar
255592 249694 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.57094 0.43251 HET Link to ClinVar
255584 249695 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.27791 0.29792 HET Link to ClinVar
295175 280046 Benign Popliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant		 . 0.3099 HOM Link to ClinVar
295178 280163 Benign Popliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant		 . 0.80811 HOM Link to ClinVar
295184 280053 Benign Popliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant		 . 0.29912 HOM Link to ClinVar
295190 280057 Benign Popliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant		 . 0.29712 HOM Link to ClinVar
295193 280172 Benign Popliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant		 . 0.30371 HOM Link to ClinVar
295199 280174 Benign Popliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant		 . 0.08746 HOM Link to ClinVar
259926 249700 Benign not_specified . 0.40515 HOM Link to ClinVar
259925 249701 Benign Popliteal_pterygium_syndrome
Van_der_Woude_syndrome
not_specified
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant		 . 0.40375 HOM Link to ClinVar
259923 249702 Benign Van_der_Woude_syndrome
not_specified		 0.32601 0.27097 HOM Link to ClinVar
295267 278948 Benign Leber_congenital_amaurosis . 0.73902 HET Link to ClinVar
295305 278964 Likely_benign Leber_congenital_amaurosis . 0.48203 HET Link to ClinVar
717611 729961 Benign not_provided . . HET Link to ClinVar
403228 389380 Benign not_specified 0.55836 0.60304 HET Link to ClinVar
177993 172380 Benign not_specified 0.76619 0.6897 HOM Link to ClinVar
667898 657334 Benign not_provided . . HOM Link to ClinVar
48378 57540 Benign not_specified . 0.15934 HOM Link to ClinVar
48377 57539 Benign Usher_syndrome,_type_2A
not_specified		 0.19185 0.14457 HOM Link to ClinVar
678886 657298 Benign not_provided . . HOM Link to ClinVar
667897 657339 Benign not_provided . . HOM Link to ClinVar
667896 657341 Benign not_provided . . HOM Link to ClinVar
672465 657342 Benign not_provided . . HOM Link to ClinVar
678885 657346 Benign not_provided . . HOM Link to ClinVar
678884 657343 Benign not_provided . . HOM Link to ClinVar
48344 57506 Benign Usher_syndrome,_type_2A
not_specified		 0.54689 0.58866 HOM Link to ClinVar
672464 657347 Benign not_provided . . HOM Link to ClinVar
671597 657348 Benign not_provided . . HOM Link to ClinVar
137896 141599 Benign not_specified . 0.07847 HET Link to ClinVar
48562 57724 Benign Usher_syndrome,_type_2A
not_specified		 0.55669 0.59345 HOM Link to ClinVar
167815 172908 Benign Usher_syndrome,_type_2A
not_specified		 0.60693 0.59565 HOM Link to ClinVar
177992 172529 Benign not_specified 0.65801 0.66234 HOM Link to ClinVar
667894 657377 Benign not_provided . . HOM Link to ClinVar
48483 57645 Benign not_specified
not_provided		 0.01581 0.00739 HET Link to ClinVar
295461 279029 Benign Loeys-Dietz_syndrome . 0.9994 HOM Link to ClinVar
295476 280527 Likely_benign Loeys-Dietz_syndrome . . HET Link to ClinVar
213836 209434 Benign/Likely_benign Connective_tissue_disorder
Loeys-Dietz_syndrome
not_specified
Cardiovascular_phenotype
not_provided		 0.00089 . HET Link to ClinVar
295576 280820 Likely_benign Hypermanganesemia_with_dystonia_1 . 0.04093 HET Link to ClinVar
295578 280787 Benign Hypermanganesemia_with_dystonia_1 . 0.86981 HET Link to ClinVar
380570 364655 Benign not_specified
not_provided		 0.03515 0.02895 HET Link to ClinVar
380023 364786 Benign not_specified
not_provided		 0.08087 0.07129 HET Link to ClinVar
680665 657384 Benign not_provided . . HET Link to ClinVar
676140 657376 Benign not_provided . . HET Link to ClinVar
680611 657379 Benign not_provided . . HET Link to ClinVar
680672 657381 Benign not_provided . . HET Link to ClinVar
680614 657385 Benign not_provided . . HET Link to ClinVar
680673 657392 Benign not_provided . . HET Link to ClinVar
380024 364901 Benign not_specified 0.1023 0.06909 HET Link to ClinVar
680616 657393 Benign not_provided . . HET Link to ClinVar
295635 280822 Likely_benign Martsolf_syndrome
Warburg_micro_syndrome		 . 0.0627 HET Link to ClinVar
130080 135526 Benign/Likely_benign Martsolf_syndrome
Warburg_micro_syndrome
not_specified		 0.08763 0.0605 HET Link to ClinVar
130079 135525 Benign/Likely_benign Martsolf_syndrome
Warburg_micro_syndrome
not_specified		 0.08945 0.0603 HET Link to ClinVar
680734 657397 Benign not_provided . . HET Link to ClinVar
673980 657395 Benign not_provided . . HET Link to ClinVar
262131 249737 Benign not_specified 0.54533 0.498 HET Link to ClinVar
6659 21698 risk_factor Legionellosis 0.14872 0.14018 HET Link to ClinVar
402644 389376 Benign not_specified 0.86591 0.70128 HOM Link to ClinVar
402645 389361 Benign not_specified 0.86544 0.70228 HOM Link to ClinVar
402646 389364 Benign not_specified . 0.01597 HET Link to ClinVar
402647 389366 Benign not_specified 0.86543 0.70328 HOM Link to ClinVar
402648 389396 Benign not_specified 0.8663 0.70268 HOM Link to ClinVar
402649 389369 Benign not_specified 0.80199 0.66214 HOM Link to ClinVar
402650 389401 Benign not_specified 0.86657 0.70208 HOM Link to ClinVar
402652 389377 Benign not_specified 0.3252 0.48502 HET Link to ClinVar
402653 389378 Benign not_specified 0.3248 0.48502 HET Link to ClinVar
402656 389404 Benign not_specified 0.49343 0.52975 HOM Link to ClinVar
402657 389385 Benign not_specified 0.50697 0.52895 HOM Link to ClinVar
402659 389383 Benign not_specified 0.49357 0.52915 HOM Link to ClinVar
402660 389387 Benign not_specified 0.51232 0.52915 HOM Link to ClinVar
402661 389391 Benign not_specified 0.42805 0.32508 HOM Link to ClinVar
402662 389393 Benign not_specified 0.43339 0.32947 HOM Link to ClinVar
402663 389386 Benign not_specified 0.7486 0.70967 HOM Link to ClinVar
402664 389408 Benign not_specified 0.55721 0.55631 HOM Link to ClinVar
402665 389410 Benign not_specified 0.50025 0.49181 HOM Link to ClinVar
402666 389388 Benign not_specified 0.54833 0.52836 HOM Link to ClinVar
295935 280960 Conflicting_interpretations_of_pathogenicity Greenberg_dysplasia
not_provided		 0.00018 0.0006 HET Link to ClinVar
258619 249738 Benign Greenberg_dysplasia
not_specified
not_provided		 0.80092 0.71226 HOM Link to ClinVar
258617 249740 Benign Greenberg_dysplasia
not_specified
not_provided		 . 0.67093 HOM Link to ClinVar
258616 249741 Benign Greenberg_dysplasia
not_specified
not_provided		 0.71123 0.65715 HOM Link to ClinVar
810884 799185 Benign not_specified . . HOM Link to ClinVar
256184 249746 Benign/Likely_benign Early-Onset_Familial_Alzheimer_Disease
not_specified
Dilated_Cardiomyopathy,_Dominant		 0.76035 0.73562 HOM Link to ClinVar
256180 249747 Benign/Likely_benign Alzheimer_disease,_type_4
Early-Onset_Familial_Alzheimer_Disease
not_specified
Dilated_Cardiomyopathy,_Dominant		 0.49948 0.44329 HOM Link to ClinVar
256181 249748 Benign/Likely_benign Alzheimer_disease,_type_4
Early-Onset_Familial_Alzheimer_Disease
not_specified
Dilated_Cardiomyopathy,_Dominant		 0.49907 0.44329 HOM Link to ClinVar
296001 281058 Likely_benign Early-Onset_Familial_Alzheimer_Disease
Dilated_Cardiomyopathy,_Dominant		 . 0.45088 HOM Link to ClinVar
683200 657414 Benign not_provided . . HOM Link to ClinVar
671530 657420 Benign not_provided . . HET Link to ClinVar
671531 657424 Benign not_provided . . HET Link to ClinVar
671532 657396 Benign not_provided . . HET Link to ClinVar
128274 133723 Benign Coenzyme_Q10_deficiency,_primary,_4
not_specified
Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
not_provided		 . 0.23862 HET Link to ClinVar
676090 657418 Benign not_provided . . HET Link to ClinVar
518313 508767 Likely_benign Coenzyme_Q10_deficiency,_primary,_4 0.36315 0.26518 HET Link to ClinVar
683201 657421 Benign not_provided . . HET Link to ClinVar
296024 279683 Benign Coenzyme_Q10_deficiency,_primary,_4
Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
not_provided		 0.41548 0.35164 HET Link to ClinVar
128275 133724 Benign Coenzyme_Q10_deficiency,_primary,_4
not_specified
Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
not_provided		 0.40536 0.3139 HET Link to ClinVar
296038 280934 Benign Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type		 . . HET Link to ClinVar
296040 281095 Benign Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type		 . 0.35204 HET Link to ClinVar
296045 281096 Likely_benign Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type		 . 0.09445 HET Link to ClinVar
296050 281105 Benign Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type		 . . HET Link to ClinVar
368867 353096 Benign Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type		 . 0.41913 HET Link to ClinVar
380039 364874 Benign not_specified
not_provided		 0.48905 0.35603 HET Link to ClinVar
684212 657426 Benign not_provided . . HOM Link to ClinVar
379988 364698 Benign not_specified
not_provided		 0.28943 0.15695 HET Link to ClinVar
713265 718723 Benign not_provided . . HET Link to ClinVar
676564 657430 Benign not_provided . . HOM Link to ClinVar
767760 777079 Benign not_provided . . HOM Link to ClinVar
254725 249765 Benign Renal_dysplasia
not_specified		 0.94407 0.97264 HOM Link to ClinVar
18068 33107 Benign Hypertension,_essential,_susceptibility_to
Preeclampsia,_susceptibility_to
Renal_dysplasia
Susceptibility_to_progression_to_renal_failure_in_IgA_nephropathy
not_specified
not_provided		 0.54843 0.70507 HOM Link to ClinVar
296083 280975 Likely_benign Renal_dysplasia 0.12301 0.10164 HET Link to ClinVar
296090 281157 Benign Renal_dysplasia
not_provided		 . 0.71046 HOM Link to ClinVar
296092 280986 Likely_benign Renal_dysplasia . 0.17592 HET Link to ClinVar
296097 279450 Benign Renal_dysplasia . 0.1895 HET Link to ClinVar
296108 279735 Benign Rhizomelic_chondrodysplasia_punctata
not_specified		 0.54901 0.58187 HET Link to ClinVar
671164 657443 Benign not_provided . . HET Link to ClinVar
671168 657355 Benign not_provided . . HET Link to ClinVar
260363 249768 Benign Rhizomelic_chondrodysplasia_punctata
Rhizomelic_chondrodysplasia_punctata_type_2
not_specified
not_provided		 0.56762 0.62859 HET Link to ClinVar
671169 657404 Benign not_provided . . HET Link to ClinVar
671188 657356 Benign not_provided . . HET Link to ClinVar
671189 657452 Benign not_provided . . HET Link to ClinVar
671190 657453 Benign not_provided . . HET Link to ClinVar
671196 657358 Benign not_provided . . HET Link to ClinVar
667599 657459 Benign not_provided . . HET Link to ClinVar
296151 281187 Benign Familial_erythrocytosis . 0.02736 HET Link to ClinVar
98346 104239 not_provided not_provided 0.29234 0.23223 HET Link to ClinVar
402981 389397 Benign not_specified 0.10904 0.08526 HET Link to ClinVar
402984 389426 Benign not_specified 0.63648 0.60383 HET Link to ClinVar
296305 281239 Likely_benign Hypoparathyroidism_retardation_dysmorphism_syndrome 0.02269 0.03614 HET Link to ClinVar
262651 249770 Benign not_specified 0.58398 0.67871 HET Link to ClinVar
403065 389398 Benign/Likely_benign Chédiak-Higashi_syndrome
not_specified		 . . HET Link to ClinVar
684368 657363 Benign not_provided . . HET Link to ClinVar
684367 657477 Benign not_provided . . HET Link to ClinVar
254908 249775 Benign not_specified
not_provided		 0.4366 0.39996 HET Link to ClinVar
684363 657480 Benign not_provided . . HET Link to ClinVar
684361 657482 Benign not_provided . . HET Link to ClinVar
684360 657489 Benign not_provided . . HET Link to ClinVar
672017 657493 Benign not_provided . . HET Link to ClinVar
254935 249784 Benign not_specified 0.24895 0.23003 HET Link to ClinVar
254931 249788 Conflicting_interpretations_of_pathogenicity Chédiak-Higashi_syndrome
not_specified
not_provided		 0.00428 0.00359 HET Link to ClinVar
684352 657494 Benign not_provided . . HET Link to ClinVar
254927 249791 Benign Chédiak-Higashi_syndrome
not_specified
not_provided		 0.34832 0.30092 HET Link to ClinVar
254923 249795 Benign Chédiak-Higashi_syndrome
not_specified
not_provided		 0.35012 0.30351 HET Link to ClinVar
684345 657454 Benign not_provided . . HOM Link to ClinVar
254912 249806 Benign Chédiak-Higashi_syndrome
not_specified
not_provided		 0.34992 0.30272 HET Link to ClinVar
254910 249807 Benign Chédiak-Higashi_syndrome
not_specified
not_provided		 0.34999 0.30332 HET Link to ClinVar
684339 657366 Benign not_provided . . HET Link to ClinVar
684338 657368 Benign not_provided . . HET Link to ClinVar
262600 249813 Benign not_specified
Hypohidrotic_Ectodermal_Dysplasia,_Recessive		 . 0.77676 HET Link to ClinVar
439637 433521 Benign not_specified . 0.77236 HET Link to ClinVar
262602 249816 Benign/Likely_benign not_specified
Hypohidrotic_Ectodermal_Dysplasia,_Recessive		 0.20239 0.13319 HET Link to ClinVar
671981 657372 Benign not_provided . . HET Link to ClinVar
671982 657423 Benign not_provided . . HET Link to ClinVar
671983 657435 Benign not_provided . . HOM Link to ClinVar
43937 53106 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.99791 0.99261 HOM Link to ClinVar
678437 657436 Benign not_provided . . HOM Link to ClinVar
671984 657439 Benign not_provided . . HOM Link to ClinVar
43938 53107 Benign not_specified
not_provided		 0.96238 0.92073 HOM Link to ClinVar
671985 657440 Benign not_provided . . HOM Link to ClinVar
672001 657442 Benign not_provided . . HOM Link to ClinVar
672002 657373 Benign not_provided . . HOM Link to ClinVar
671060 657467 Benign not_provided . . HET Link to ClinVar
672003 657456 Benign not_provided . . HOM Link to ClinVar
672004 657468 Benign not_provided . . HOM Link to ClinVar
177799 172789 Benign not_specified
not_provided		 0.16674 0.19589 HET Link to ClinVar
672005 657513 Benign not_provided . . HET Link to ClinVar
678091 657461 Benign not_provided . . HET Link to ClinVar
671061 657476 Benign not_provided . . HET Link to ClinVar
43950 53119 Benign/Likely_benign Hypertrophic_cardiomyopathy
Dilated_cardiomyopathy_1AA
not_specified
Dilated_Cardiomyopathy,_Dominant
not_provided		 . 0.76757 HET Link to ClinVar
671062 657522 Benign not_provided . . HET Link to ClinVar
672006 657466 Benign not_provided . . HET Link to ClinVar
672446 657470 Benign not_provided . . HET Link to ClinVar
682668 657416 Benign not_provided . . HET Link to ClinVar
672007 657527 Benign not_provided . . HOM Link to ClinVar
672008 657491 Benign not_provided . . HOM Link to ClinVar
682669 657488 Benign not_provided . . HET Link to ClinVar
672009 657531 Benign not_provided . . HOM Link to ClinVar
672010 657501 Benign not_provided . . HOM Link to ClinVar
682671 657492 Benign not_provided . . HOM Link to ClinVar
682681 657547 Benign not_provided . . HOM Link to ClinVar
672011 657517 Benign not_provided . . HET Link to ClinVar
682682 657499 Benign not_provided . . HOM Link to ClinVar
671063 657523 Benign not_provided . . HOM Link to ClinVar
43933 53102 Benign/Likely_benign Hypertrophic_cardiomyopathy
Dilated_cardiomyopathy_1AA
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.16881 0.19609 HET Link to ClinVar
296512 281366 Likely_benign Hypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.34984 HET Link to ClinVar
296517 280081 Likely_benign Hypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.40455 HET Link to ClinVar
296518 281561 Likely_benign Hypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.55731 HET Link to ClinVar
296520 281562 Likely_benign Hypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.21745 HET Link to ClinVar
296521 279762 Likely_benign Hypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.39916 HET Link to ClinVar
138288 141991 Benign Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified		 0.3184 0.23223 HET Link to ClinVar
138289 141992 Benign Neural_tube_defects,_folate-sensitive,_susceptibility_to
Gastrointestinal_stroma_tumor
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified		 0.20908 0.21825 HET Link to ClinVar
138284 141987 Benign Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified		 . 0.52915 HET Link to ClinVar
138285 141988 Benign Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified		 0.67559 0.7524 HET Link to ClinVar
296586 280140 Conflicting_interpretations_of_pathogenicity METHYLCOBALAMIN_DEFICIENCY,_cblG_TYPE
Disorders_of_Intracellular_Cobalamin_Metabolism		 . . HET Link to ClinVar
296587 279822 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.54014 HET Link to ClinVar
296598 281447 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.24601 HET Link to ClinVar
296610 279848 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.76458 HET Link to ClinVar
296611 281657 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.76438 HET Link to ClinVar
296618 281662 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.20367 HET Link to ClinVar
296631 281701 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.73283 HET Link to ClinVar
296635 281703 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . HET Link to ClinVar
296637 280180 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . HET Link to ClinVar
296655 280196 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.53974 HET Link to ClinVar
296668 281517 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.54473 HET Link to ClinVar
296673 280208 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.76458 HET Link to ClinVar
668912 657524 Benign not_provided . . HET Link to ClinVar
672066 657528 Benign not_provided . . HOM Link to ClinVar
683744 657549 Benign not_provided . . HOM Link to ClinVar
683746 657437 Benign not_provided . . HET Link to ClinVar
683751 657447 Benign not_provided . . HOM Link to ClinVar
671021 657533 Benign not_provided . . HET Link to ClinVar
683754 657540 Benign not_provided . . HET Link to ClinVar
43817 52986 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified		 . 0.55651 HOM Link to ClinVar
671745 657541 Benign not_provided . . HET Link to ClinVar
671746 657557 Benign not_provided . . HET Link to ClinVar
43749 52918 Benign/Likely_benign not_specified . . HET Link to ClinVar
683767 657521 Benign not_provided . . HOM Link to ClinVar
669198 657496 Benign not_provided . . HOM Link to ClinVar
671748 657625 Benign not_provided . . HOM Link to ClinVar
673303 657564 Benign not_provided . . HOM Link to ClinVar
672071 657535 Benign not_provided . . HOM Link to ClinVar
670895 657627 Benign not_provided . . HOM Link to ClinVar
683776 657569 Benign not_provided . . HET Link to ClinVar
671749 657532 Benign not_provided . . HET Link to ClinVar
43763 52932 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 . 0.83027 HET Link to ClinVar
669902 657571 Likely_benign not_provided . . HET Link to ClinVar
671750 657572 Benign not_provided . . HET Link to ClinVar
257207 249820 Benign not_specified
not_provided		 0.95754 0.90555 HET Link to ClinVar
671751 657534 Benign not_provided . . HOM Link to ClinVar
671752 657643 Benign not_provided . . HET Link to ClinVar
257208 249821 Benign not_specified
not_provided		 0.6443 0.49281 HET Link to ClinVar
672072 657559 Benign not_provided . . HET Link to ClinVar
672073 657550 Benign not_provided . . HET Link to ClinVar
674656 657583 Benign not_provided . . HET Link to ClinVar
669266 657646 Benign not_provided . . HET Link to ClinVar
683778 657584 Benign not_provided . . HET Link to ClinVar
257210 249823 Benign not_specified
not_provided		 0.44671 0.33746 HET Link to ClinVar
683781 657648 Benign not_provided . . HET Link to ClinVar
671504 657553 Likely_benign not_provided . . HET Link to ClinVar
43782 52951 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
not_provided		 0.01824 0.00719 HET Link to ClinVar
257211 249824 Benign not_specified
not_provided		 0.45979 0.33586 HET Link to ClinVar
257212 249825 Benign not_specified
not_provided		 0.43174 0.33746 HET Link to ClinVar
671201 657555 Benign not_provided . . HOM Link to ClinVar
671202 657651 Benign not_provided . . HET Link to ClinVar
672074 657656 Benign not_provided . . HET Link to ClinVar
672075 657565 Benign not_provided . . HET Link to ClinVar
671203 657562 Benign not_provided . . HET Link to ClinVar
683782 657599 Benign not_provided . . HET Link to ClinVar
671769 657598 Benign not_provided . . HOM Link to ClinVar
671770 657666 Benign not_provided . . HOM Link to ClinVar
672078 657603 Benign not_provided . . HOM Link to ClinVar
671771 657588 Benign not_provided . . HOM Link to ClinVar
671772 657607 Benign not_provided . . HOM Link to ClinVar
683784 657612 Benign not_provided . . HET Link to ClinVar
671773 657626 Benign not_provided . . HET Link to ClinVar
257214 249826 Benign not_specified
not_provided		 0.36365 0.42851 HET Link to ClinVar
671205 657616 Benign not_provided . . HET Link to ClinVar
671206 657618 Benign not_provided . . HET Link to ClinVar
671774 657681 Benign not_provided . . HET Link to ClinVar
671775 657637 Benign not_provided . . HET Link to ClinVar
671776 657621 Benign not_provided . . HET Link to ClinVar
43819 52988 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 0.98839 0.95487 HOM Link to ClinVar
683787 657630 Benign not_provided . . HOM Link to ClinVar
672095 657631 Benign not_provided . . HOM Link to ClinVar
671777 657605 Benign not_provided . . HET Link to ClinVar
43827 52996 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 0.51982 0.55491 HET Link to ClinVar
671207 657613 Benign not_provided . . HET Link to ClinVar
672096 657635 Benign not_provided . . HET Link to ClinVar
672097 657619 Benign not_provided . . HET Link to ClinVar
672098 657645 Benign not_provided . . HET Link to ClinVar
672099 657657 Benign not_provided . . HET Link to ClinVar
670946 657678 Benign not_provided . . HOM Link to ClinVar
671026 657663 Benign not_provided . . HOM Link to ClinVar
683788 657680 Benign not_provided . . HOM Link to ClinVar
671208 657664 Benign not_provided . . HOM Link to ClinVar
36750 45411 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 0.25333 0.09924 HOM Link to ClinVar
672100 657629 Benign not_provided . . HOM Link to ClinVar
672101 657667 Benign not_provided . . HOM Link to ClinVar
683792 657668 Benign not_provided . . HOM Link to ClinVar
683794 657669 Benign not_provided . . HOM Link to ClinVar
43836 53005 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 . 0.96925 HOM Link to ClinVar
671778 657711 Benign not_provided . . HOM Link to ClinVar
683789 657640 Benign not_provided . . HOM Link to ClinVar
43699 52868 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 0.98859 0.96046 HOM Link to ClinVar
672102 657655 Benign not_provided . . HOM Link to ClinVar
43702 52871 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 0.98853 0.96026 HOM Link to ClinVar
198668 195829 Benign not_specified 0.99539 0.98522 HOM Link to ClinVar
683797 657676 Benign not_provided . . HOM Link to ClinVar
683793 657712 Benign not_provided . . HOM Link to ClinVar
672103 657719 Benign not_provided . . HOM Link to ClinVar
669249 657700 Benign not_provided . . HOM Link to ClinVar
93476 99381 Benign not_specified 0.575 0.63658 HOM Link to ClinVar
257200 249835 Benign not_specified
not_provided		 0.27881 0.29792 HOM Link to ClinVar
672161 657746 Benign not_provided . . HET Link to ClinVar
257201 249836 Benign not_specified 0.71344 0.73403 HET Link to ClinVar
43731 52900 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified		 0.73989 0.75759 HET Link to ClinVar
43732 52901 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified		 0.72731 0.7508 HET Link to ClinVar
669618 657707 Benign not_provided . . HET Link to ClinVar
678017 657734 Benign not_provided . . HET Link to ClinVar
683800 657745 Benign not_provided . . HET Link to ClinVar
683802 657761 Benign not_provided . . HET Link to ClinVar
669252 657762 Benign not_provided . . HOM Link to ClinVar
683804 657773 Benign not_provided . . HOM Link to ClinVar
672106 657743 Benign not_provided . . HOM Link to ClinVar
296789 280387 Uncertain_significance Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia		 . . HOM Link to ClinVar
296799 281694 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia		 . 0.22045 HOM Link to ClinVar
296809 281876 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia		 . 0.24681 HOM Link to ClinVar
683908 657728 Benign not_provided . . HET Link to ClinVar
260006 249851 Benign Renal_dysplasia_and_retinal_aplasia
Bardet-Biedl_syndrome
Senior-Loken_syndrome_7
not_specified		 0.29756 0.27137 HET Link to ClinVar
260008 249853 Benign not_specified 0.2608 0.23782 HET Link to ClinVar
677638 656829 Likely_benign not_provided . . HET Link to ClinVar
296931 280586 Benign Familial_amyloid_nephropathy_with_urticaria_AND_deafness
Familial_cold_autoinflammatory_syndrome
Chronic_infantile_neurological,_cutaneous_and_articular_syndrome		 . 0.9978 HOM Link to ClinVar
138528 142231 Benign Familial_amyloid_nephropathy_with_urticaria_AND_deafness
Familial_cold_autoinflammatory_syndrome
Chronic_infantile_neurological,_cutaneous_and_articular_syndrome
not_specified		 . 0.38738 HET Link to ClinVar
403243 389399 Benign not_specified 0.94259 0.91993 HOM Link to ClinVar
296956 280213 Benign Familial_amyloid_nephropathy_with_urticaria_AND_deafness
Familial_cold_autoinflammatory_syndrome
Chronic_infantile_neurological,_cutaneous_and_articular_syndrome		 . 0.65355 HET Link to ClinVar
296960 281902 Benign Familial_amyloid_nephropathy_with_urticaria_AND_deafness
Familial_cold_autoinflammatory_syndrome
Chronic_infantile_neurological,_cutaneous_and_articular_syndrome		 . 0.13159 HET Link to ClinVar
767775 696646 Benign not_provided . . HET Link to ClinVar
331215 282528 Likely_benign Congenital_hypothyroidism . 0.63239 HET Link to ClinVar
256607 250164 Benign/Likely_benign Congenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified		 . 0.3117 HET Link to ClinVar
256605 250167 Benign/Likely_benign Congenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified		 0.45782 0.40815 HET Link to ClinVar
256606 250168 Benign Congenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified		 0.64004 0.71026 HOM Link to ClinVar
256608 250170 Benign/Likely_benign Congenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified		 0.36304 0.35903 HET Link to ClinVar
256610 250173 Benign/Likely_benign Congenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified		 . 0.4389 HET Link to ClinVar
256611 250174 Benign/Likely_benign Congenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified		 0.42798 0.4984 HET Link to ClinVar
256614 250292 Benign Congenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified		 0.58982 0.66394 HET Link to ClinVar
331644 282293 Likely_benign Congenital_hypothyroidism . 0.35264 HET Link to ClinVar
260228 250314 Benign not_specified
not_provided		 . 0.90775 HOM Link to ClinVar
260224 250318 Benign not_specified
not_provided		 . 0.24481 HOM Link to ClinVar
260223 250319 Benign not_specified
not_provided		 . 0.9355 HOM Link to ClinVar
260220 250345 Benign not_specified
not_provided		 0.75601 0.8109 HOM Link to ClinVar
683674 655445 Benign not_provided . . HET Link to ClinVar
669563 659171 Benign not_provided . . HET Link to ClinVar
683672 659096 Benign not_provided . . HET Link to ClinVar
683668 659172 Benign not_provided . . HOM Link to ClinVar
670034 659098 Benign not_provided . . HET Link to ClinVar
670028 659196 Benign not_provided . . HET Link to ClinVar
335905 289245 Benign Diamond-Blackfan_anemia
not_specified		 0.12025 0.13339 HET Link to ClinVar
402557 389501 Benign not_specified 0.78266 0.7512 HET Link to ClinVar
402556 389503 Benign not_specified 0.12722 0.11921 HET Link to ClinVar
330649 281475 Benign Maturity_onset_diabetes_mellitus_in_young . . HOM Link to ClinVar
330669 281495 Benign Maturity_onset_diabetes_mellitus_in_young . 0.83087 HOM Link to ClinVar
330674 283502 Benign Maturity_onset_diabetes_mellitus_in_young . 0.58706 HOM Link to ClinVar
403386 389448 Benign not_specified 0.31816 0.30192 HET Link to ClinVar
403387 389439 Benign not_specified 0.49815 0.39976 HET Link to ClinVar
403044 389455 Benign not_specified
not_provided		 0.63226 0.48642 HET Link to ClinVar
96495 102389 Benign not_specified 0.29787 0.20467 HOM Link to ClinVar
683089 658057 Benign not_provided . . HOM Link to ClinVar
262586 250105 Benign not_specified
not_provided		 0.55976 0.53694 HOM Link to ClinVar
683094 658186 Benign not_provided . . HOM Link to ClinVar
684303 658010 Benign not_provided . . HET Link to ClinVar
262591 250108 Benign/Likely_benign not_specified
Acute_Recurrent_Myoglobinuria		 . 0.04473 HET Link to ClinVar
330929 284019 Benign Acute_Recurrent_Myoglobinuria . 0.69489 HOM Link to ClinVar
330932 283783 Likely_benign Acute_Recurrent_Myoglobinuria . 0.11641 HET Link to ClinVar
330933 283789 Likely_benign Acute_Recurrent_Myoglobinuria . 0.01897 HET Link to ClinVar
330940 283806 Benign Acute_Recurrent_Myoglobinuria . 0.23123 HET Link to ClinVar
330957 282373 Uncertain_significance Acute_Recurrent_Myoglobinuria . 0.00579 HET Link to ClinVar
333371 286855 Benign/Likely_benign Short_Rib_Polydactyly_Syndrome
Cranioectodermal_dysplasia
not_specified		 0.11481 0.14297 HET Link to ClinVar
167846 178154 Benign Short_Rib_Polydactyly_Syndrome
Cranioectodermal_dysplasia
not_specified		 0.98795 0.96486 HOM Link to ClinVar
256877 250472 Benign Short_Rib_Polydactyly_Syndrome
Cranioectodermal_dysplasia
not_specified		 . 0.51078 HOM Link to ClinVar
333407 283829 Benign/Likely_benign Short_Rib_Polydactyly_Syndrome
Multiple_Epiphyseal_Dysplasia,_Dominant
Cranioectodermal_dysplasia
not_specified		 0.10651 0.11861 HOM Link to ClinVar
256876 250473 Benign not_specified 0.54681 0.6216 HOM Link to ClinVar
333410 284474 Benign Short_Rib_Polydactyly_Syndrome
Multiple_Epiphyseal_Dysplasia,_Dominant
Cranioectodermal_dysplasia		 . 0.50919 HOM Link to ClinVar
258646 250475 Benign not_specified 0.51581 0.50939 HOM Link to ClinVar
195170 192331 Benign Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified		 0.48371 0.52436 HOM Link to ClinVar
195169 192330 Benign Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified		 0.47539 0.52476 HOM Link to ClinVar
128418 133867 Benign/Likely_benign Familial_hypercholesterolemia
Familial_hypercholesterolemia_1
Warfarin_response
Familial_hypobetalipoproteinemia
not_specified		 0.70574 0.62959 HOM Link to ClinVar
128425 133874 Benign/Likely_benign Familial_hypercholesterolemia
Familial_hypercholesterolemia_1
Warfarin_response
Familial_hypobetalipoproteinemia
not_specified		 0.38994 0.251 HOM Link to ClinVar
128424 133873 Benign/Likely_benign Familial_hypercholesterolemia
Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
not_specified
not_provided		 0.38914 0.2492 HOM Link to ClinVar
335352 289041 Likely_benign Proopiomelanocortin_deficiency
Monogenic_Non-Syndromic_Obesity		 . 0.11562 HOM Link to ClinVar
706983 695137 Benign not_provided . . HOM Link to ClinVar
335372 289069 Benign Mitochondrial_trifunctional_protein_deficiency
LCHAD_Deficiency		 . 0.78754 HOM Link to ClinVar
676137 659109 Benign not_provided . . HOM Link to ClinVar
676135 659032 Benign not_provided . . HOM Link to ClinVar
676286 658940 Benign not_provided . . HET Link to ClinVar
676133 659072 Benign not_provided . . HOM Link to ClinVar
681693 659036 Benign not_provided . . HOM Link to ClinVar
673764 659116 Benign not_provided . . HOM Link to ClinVar
681690 659121 Benign not_provided . . HOM Link to ClinVar
681680 659080 Benign not_provided . . HOM Link to ClinVar
335395 288705 Benign Mitochondrial_trifunctional_protein_deficiency
LCHAD_Deficiency		 . 0.45727 HOM Link to ClinVar
676138 659125 Benign not_provided . . HOM Link to ClinVar
92600 98508 Benign Mitochondrial_trifunctional_protein_deficiency
not_specified
not_provided		 . . HOM Link to ClinVar
335410 289128 Benign Mitochondrial_trifunctional_protein_deficiency . 0.71106 HOM Link to ClinVar
262566 250699 Benign not_specified . 0.6234 HOM Link to ClinVar
402796 389516 Benign not_specified 0.18403 0.16114 HET Link to ClinVar
262564 250700 Benign not_specified 0.99933 0.9992 HOM Link to ClinVar
262565 250701 Benign not_specified 0.71572 0.53035 HOM Link to ClinVar
402797 389508 Benign not_specified 0.99832 0.99441 HOM Link to ClinVar
683011 659141 Benign not_provided . . HET Link to ClinVar
21864 34716 Benign/Likely_benign Deafness,_autosomal_recessive_9
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.05546 0.05591 HET Link to ClinVar
21836 34688 Benign/Likely_benign Deafness,_autosomal_recessive_9
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.43498 0.26997 HET Link to ClinVar
402999 389500 Benign not_specified 0.98929 0.96266 HOM Link to ClinVar
335473 288764 Benign Fructosuria,_essential . 0.54633 HOM Link to ClinVar
335500 285791 Likely_benign Fructosuria,_essential . . HET Link to ClinVar
95736 101633 Benign Leukoencephalopathy_with_vanishing_white_matter
not_specified
not_provided		 0.3986 0.38339 HET Link to ClinVar
95738 101635 Benign Leukoencephalopathy_with_vanishing_white_matter
not_specified
not_provided		 0.39619 0.3784 HET Link to ClinVar
335549 285839 Likely_benign Retinitis_Pigmentosa,_Dominant . 0.35204 HET Link to ClinVar
379412 366599 Benign not_specified 0.4403 0.45407 HET Link to ClinVar
379411 366532 Benign not_specified 0.38857 0.35363 HET Link to ClinVar
683620 659148 Benign not_provided . . HET Link to ClinVar
379410 366610 Benign not_specified 0.41865 0.45407 HET Link to ClinVar
683618 659095 Benign not_provided . . HET Link to ClinVar
476042 451000 Conflicting_interpretations_of_pathogenicity not_specified
not_provided		 0.00721 0.0028 HET Link to ClinVar
667025 654284 Benign not_specified . . HET Link to ClinVar
335573 286629 Benign Retinitis_Pigmentosa,_Recessive . 0.92153 HOM Link to ClinVar
335575 288858 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.49541 HOM Link to ClinVar
335576 286632 Benign Retinitis_Pigmentosa,_Recessive . 0.8157 HOM Link to ClinVar
335578 289266 Benign Retinitis_Pigmentosa,_Recessive . 0.97844 HOM Link to ClinVar
335583 289296 Benign Retinitis_Pigmentosa,_Recessive . 0.50978 HET Link to ClinVar
335584 288860 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.06929 HET Link to ClinVar
335590 285857 Benign Retinitis_Pigmentosa,_Recessive . 0.59405 HET Link to ClinVar
335591 285858 Benign Retinitis_Pigmentosa,_Recessive . 0.59445 HET Link to ClinVar
335592 288868 Benign Retinitis_Pigmentosa,_Recessive . 0.58806 HET Link to ClinVar
335599 286655 Benign Retinitis_Pigmentosa,_Recessive . 0.58007 HET Link to ClinVar
335601 285864 Benign Retinitis_Pigmentosa,_Recessive . 0.6238 HET Link to ClinVar
335605 288870 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.13299 HET Link to ClinVar
335609 286672 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.36661 HET Link to ClinVar
335613 286673 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.36701 HET Link to ClinVar
335621 286682 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.33506 HET Link to ClinVar
335625 288899 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.13059 HET Link to ClinVar
335627 289343 Uncertain_significance Retinitis_Pigmentosa,_Recessive . . HET Link to ClinVar
335635 285893 Likely_benign Retinitis_Pigmentosa,_Recessive 0.26943 0.32708 HET Link to ClinVar
287770 272007 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.17067 0.1248 HET Link to ClinVar
287769 272006 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.17045 0.125 HET Link to ClinVar
193145 190310 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.26936 0.33387 HET Link to ClinVar
335662 288932 Likely_benign Retinitis_Pigmentosa,_Recessive 0.2683 0.33167 HET Link to ClinVar
335672 285944 Likely_benign Retinitis_Pigmentosa,_Recessive 0.16567 0.11122 HET Link to ClinVar
335674 286730 Likely_benign Retinitis_Pigmentosa,_Recessive 0.17088 0.11661 HET Link to ClinVar
335677 289362 Benign Neuroblastoma_Susceptibility . 0.99281 HOM Link to ClinVar
133472 137211 Benign Hereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided		 0.99716 0.99221 HOM Link to ClinVar
676841 659127 Benign not_provided . . HOM Link to ClinVar
676840 658978 Benign not_provided . . HET Link to ClinVar
676839 659162 Benign not_provided . . HET Link to ClinVar
259271 250717 Benign Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided		 0.28956 0.17652 HET Link to ClinVar
259268 250719 Benign Hereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided		 0.6121 0.5 HET Link to ClinVar
676804 659063 Benign not_provided . . HOM Link to ClinVar
259266 250720 Benign Hereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided		 . 0.77656 HOM Link to ClinVar
259274 250722 Benign Hereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided		 . 0.58926 HET Link to ClinVar
259269 250724 Benign Hereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided		 0.89495 0.89377 HOM Link to ClinVar
335749 286785 Likely_benign Xanthinuria . . HOM Link to ClinVar
191300 189103 Benign Xanthinuria
Deficiency_of_xanthine_oxidase
Xanthinuria_type_2
not_specified		 0.77846 0.77736 HOM Link to ClinVar
255969 250726 Benign Xanthinuria
not_specified		 0.77612 0.76837 HOM Link to ClinVar
255968 250727 Benign Xanthinuria
not_specified		 0.78635 0.79992 HOM Link to ClinVar
801659 790228 Benign Xanthinuria_type_2 . . HET Link to ClinVar
97419 103311 Benign 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency
not_provided		 . 0.16693 HET Link to ClinVar
335803 286076 Likely_benign 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency . 0.01458 HET Link to ClinVar
335811 286098 Likely_benign 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency . 0.01458 HET Link to ClinVar
97403 103295 Benign not_specified
not_provided		 0.68441 0.64237 HET Link to ClinVar
97400 103292 Benign not_specified
not_provided		 0.69991 0.65216 HET Link to ClinVar
97386 103278 Benign 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency
not_provided		 . 0.64038 HET Link to ClinVar
671069 659068 Benign not_provided . . HET Link to ClinVar
684075 659179 Benign not_provided . . HOM Link to ClinVar
684076 659185 Benign not_provided . . HOM Link to ClinVar
667494 659029 Benign not_provided . . HOM Link to ClinVar
335865 289568 Benign Spastic_paraplegia,_autosomal_dominant . 0.33786 HET Link to ClinVar
335875 289215 Likely_benign Spastic_paraplegia,_autosomal_dominant . 0.0028 HET Link to ClinVar
335876 286164 Benign Spastic_paraplegia,_autosomal_dominant . . HOM Link to ClinVar
335878 286168 Benign Spastic_paraplegia,_autosomal_dominant . 0.48003 HOM Link to ClinVar
335879 286173 Likely_benign Spastic_paraplegia,_autosomal_dominant . 0.003 HET Link to ClinVar
783022 708246 Benign not_provided . . HET Link to ClinVar
783023 708251 Benign not_provided . . HET Link to ClinVar
783024 708252 Benign not_provided . . HET Link to ClinVar
783116 708254 Benign not_provided . . HET Link to ClinVar
783117 708255 Benign not_provided . . HET Link to ClinVar
236028 237595 association Lip_and_oral_cavity_carcinoma . 0.64337 HET Link to ClinVar
790641 708265 Benign not_provided . . HET Link to ClinVar
335967 289323 Likely_benign Gingival_fibromatosis
Noonan_syndrome		 . 0.7476 HET Link to ClinVar
335973 286987 Likely_benign Gingival_fibromatosis
Noonan_syndrome		 . 0.74661 HET Link to ClinVar
335979 289331 Likely_benign Gingival_fibromatosis
Noonan_syndrome		 . 0.89956 HET Link to ClinVar
212289 207000 Likely_benign Gingival_fibromatosis
Noonan_syndrome
not_specified		 . . HET Link to ClinVar
335987 289686 Likely_benign Gingival_fibromatosis
Noonan_syndrome		 . 0.76218 HET Link to ClinVar
212288 207001 Likely_benign Gingival_fibromatosis
Noonan_syndrome
not_specified		 . . HET Link to ClinVar
336010 287026 Likely_benign Gingival_fibromatosis
Noonan_syndrome		 . . HET Link to ClinVar
336011 289730 Likely_benign Gingival_fibromatosis
Noonan_syndrome		 . 0.52336 HET Link to ClinVar
561358 552503 Benign not_provided . . HET Link to ClinVar
561828 552504 Benign not_provided . 0.74401 HET Link to ClinVar
259848 250731 Benign not_specified 0.91882 0.90016 HET Link to ClinVar
259847 250733 Benign not_specified . . HET Link to ClinVar
561381 552509 Likely_benign not_provided . 0.00659 HET Link to ClinVar
180170 178349 Benign Noonan_syndrome . 0.90515 HET Link to ClinVar
40708 49178 Benign Rasopathy
not_specified
not_provided		 0.00067 . HET Link to ClinVar
561380 552512 Likely_benign not_provided . 0.00659 HET Link to ClinVar
561827 552519 Benign not_provided . 0.72983 HET Link to ClinVar
561826 552527 Benign not_provided . 0.72943 HET Link to ClinVar
561825 552528 Benign not_provided . 0.89956 HET Link to ClinVar
561372 552534 Benign not_provided . 0.89417 HET Link to ClinVar
180179 178351 Benign Noonan_syndrome
not_specified		 0.90141 0.89137 HET Link to ClinVar
561824 552538 Benign not_provided . . HET Link to ClinVar
336080 286334 Benign Sitosterolemia
not_specified		 0.67334 0.76498 HOM Link to ClinVar
336112 287094 Benign Leigh_syndrome . 0.60064 HOM Link to ClinVar
684334 659202 Benign not_provided . . HOM Link to ClinVar
671284 659221 Benign not_provided . . HOM Link to ClinVar
684327 659210 Benign not_provided . . HOM Link to ClinVar
671279 659128 Benign not_provided . . HOM Link to ClinVar
684311 659268 Benign not_provided . . HOM Link to ClinVar
336184 286471 Benign Cystinuria 0.73275 0.70347 HOM Link to ClinVar
167690 178072 Benign not_specified
not_provided		 0.92145 0.9375 HOM Link to ClinVar
336258 287200 Benign Familial_erythrocytosis . 0.3125 HET Link to ClinVar
336293 286566 Benign Familial_erythrocytosis . . HET Link to ClinVar
528477 518362 Likely_benign not_provided . . HET Link to ClinVar
678452 659070 Benign not_provided . . HET Link to ClinVar
683290 659303 Benign not_provided . . HET Link to ClinVar
676950 659157 Benign not_provided . . HET Link to ClinVar
36564 45226 Benign Lynch_syndrome . 0.59365 HET Link to ClinVar
90598 96073 Benign Lynch_syndrome . 0.59924 HET Link to ClinVar
90607 96082 Benign Lynch_syndrome . 0.08247 HET Link to ClinVar
90609 96084 Benign Lynch_syndrome . 0.60124 HET Link to ClinVar
90599 96074 Benign Lynch_syndrome
not_provided		 . 0.79473 HOM Link to ClinVar
90687 96162 Benign Lynch_syndrome . 0.55671 HET Link to ClinVar
90846 96321 Benign Lynch_syndrome . 0.55192 HET Link to ClinVar
676471 659239 Benign not_provided . . HOM Link to ClinVar
676957 659163 Benign not_provided . . HET Link to ClinVar
90924 96399 Benign Lynch_syndrome . 0.96246 HOM Link to ClinVar
41867 50306 Benign not_specified
not_provided		 0.45795 0.52795 HET Link to ClinVar
36581 45243 Benign Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
Lynch_syndrome_I
not_specified
not_provided		 . 0.20088 HET Link to ClinVar
89294 94768 Benign Lynch_syndrome . 0.29433 HET Link to ClinVar
89521 94995 Benign Lynch_syndrome . 0.16953 HET Link to ClinVar
676475 659241 Benign not_provided . . HOM Link to ClinVar
89532 95006 Benign Lynch_syndrome . 0.22444 HET Link to ClinVar
89544 95018 Benign Lynch_syndrome . 0.73782 HOM Link to ClinVar
89345 94819 Benign Lynch_syndrome
not_specified		 . 0.82248 HOM Link to ClinVar
42471 51641 Benign Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_specified		 0.40426 0.40096 HET Link to ClinVar
89410 94884 Benign Lynch_syndrome . 0.67232 HOM Link to ClinVar
595919 586980 Benign not_specified . 0.76957 HOM Link to ClinVar
89429 94903 Benign Lynch_syndrome
not_specified		 . . HOM Link to ClinVar
89432 94906 Benign Lynch_syndrome
not_specified		 . 0.8143 HOM Link to ClinVar
36594 45256 Benign Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_specified		 0.74265 0.80911 HOM Link to ClinVar
336454 286696 Benign Hypergonadotropic_hypogonadism
Leydig_cell_agenesis
Gonadotropin-independent_familial_sexual_precocity		 . 0.16274 HET Link to ClinVar
255607 250744 Benign Hypergonadotropic_hypogonadism
Leydig_cell_agenesis
Gonadotropin-independent_familial_sexual_precocity
not_specified		 0.60263 0.59225 HET Link to ClinVar
255609 250745 Benign Hypergonadotropic_hypogonadism
Leydig_cell_agenesis
Gonadotropin-independent_familial_sexual_precocity
not_specified		 0.63762 0.59105 HET Link to ClinVar
255608 250746 Benign Hypergonadotropic_hypogonadism
Leydig_cell_agenesis
Gonadotropin-independent_familial_sexual_precocity
not_specified		 0.76565 0.73742 HOM Link to ClinVar
137403 141106 Benign Ovarian_hyperstimulation_syndrome
Ovarian_dysgenesis
not_specified		 0.31602 0.34505 HET Link to ClinVar
336515 290280 Benign Pitt-Hopkins-like_syndrome . 0.22724 HOM Link to ClinVar
336528 289874 Benign Pitt-Hopkins-like_syndrome . . HOM Link to ClinVar
667709 659168 Benign not_provided . . HOM Link to ClinVar
675103 659254 Benign not_provided . . HOM Link to ClinVar
801713 790282 Benign Pitt-Hopkins-like_syndrome_2 . . HOM Link to ClinVar
667731 659349 Benign not_provided . . HET Link to ClinVar
667707 659112 Benign not_provided . . HET Link to ClinVar
667711 659118 Benign not_provided . . HOM Link to ClinVar
667708 659183 Benign not_provided . . HET Link to ClinVar
667706 659189 Benign not_provided . . HET Link to ClinVar
667704 659194 Benign not_provided . . HET Link to ClinVar
667536 659273 Benign not_provided . . HET Link to ClinVar
667703 659285 Benign not_provided . . HET Link to ClinVar
667702 659287 Benign not_provided . . HET Link to ClinVar
670683 659288 Benign not_provided . . HET Link to ClinVar
667697 659135 Benign not_provided . . HET Link to ClinVar
668651 659149 Benign not_provided . . HOM Link to ClinVar
667699 659203 Benign not_provided . . HET Link to ClinVar
674918 659212 Benign not_provided . . HET Link to ClinVar
93603 99507 Benign History_of_neurodevelopmental_disorder
Pitt-Hopkins-like_syndrome
not_specified		 0.13058 0.21306 HET Link to ClinVar
683578 659152 Benign not_provided . . HET Link to ClinVar
138739 142442 Benign not_specified
not_provided		 0.08282 0.14756 HET Link to ClinVar
138738 142441 Benign not_specified
not_provided		 0.12979 0.19848 HET Link to ClinVar
683569 659161 Benign not_provided . . HET Link to ClinVar
671592 659375 Benign not_provided . . HOM Link to ClinVar
671591 659246 Benign not_provided . . HOM Link to ClinVar
671588 659301 Benign not_provided . . HOM Link to ClinVar
671576 659252 Benign not_provided . . HET Link to ClinVar
669542 659169 Benign not_provided . . HET Link to ClinVar
683568 659302 Benign not_provided . . HOM Link to ClinVar
683567 659253 Benign not_provided . . HOM Link to ClinVar
683564 659395 Benign not_provided . . HOM Link to ClinVar
671587 659404 Benign not_provided . . HOM Link to ClinVar
516898 500091 Benign not_specified . . HET Link to ClinVar
683552 659262 Benign not_provided . . HET Link to ClinVar
671575 659184 Benign not_provided . . HET Link to ClinVar
257227 250749 Benign Doyne_honeycomb_retinal_dystrophy
not_specified		 0.05339 0.03774 HET Link to ClinVar
257495 250750 Benign Fanconi_anemia
not_specified
not_provided		 0.64866 0.70647 HET Link to ClinVar
336653 287621 Conflicting_interpretations_of_pathogenicity Fanconi_anemia
not_provided		 4e-05 . HET Link to ClinVar
257494 250751 Benign not_specified 0.12604 0.17672 HET Link to ClinVar
127265 132722 Benign Fetal_hemoglobin_quantitative_trait_locus_5
Intellectual_developmental_disorder_with_persistence_of_fetal_hemoglobin		 . 0.48323 HET Link to ClinVar
336670 287662 Conflicting_interpretations_of_pathogenicity Peroxisome_biogenesis_disorder_11A
Peroxisome_biogenesis_disorder_1A_(Zellweger)		 0.02407 0.01138 HET Link to ClinVar
336677 287682 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.99521 HOM Link to ClinVar
336685 290432 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.30391 HET Link to ClinVar
336687 286893 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.07628 HET Link to ClinVar
336699 290089 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.61601 HET Link to ClinVar
336715 290453 Likely_benign Retinitis_Pigmentosa,_Recessive 0.39734 0.47644 HET Link to ClinVar
336727 290460 Likely_benign Retinitis_Pigmentosa,_Recessive 0.39968 0.47604 HET Link to ClinVar
96217 102111 Benign Retinitis_pigmentosa_28
not_specified
Retinitis_Pigmentosa,_Recessive		 0.97589 0.97963 HOM Link to ClinVar
336744 287722 Likely_benign Retinitis_Pigmentosa,_Recessive 0.18292 0.16014 HET Link to ClinVar
193466 190630 Benign not_specified 0.97594 0.97943 HOM Link to ClinVar
336747 290124 Benign Retinitis_Pigmentosa,_Recessive 0.9746 0.97943 HOM Link to ClinVar
336760 290503 Uncertain_significance Bardet-Biedl_syndrome 0.00015 . HET Link to ClinVar
95744 101641 Benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified		 0.60528 0.76378 HOM Link to ClinVar
193387 190551 Uncertain_significance not_provided 0.00039 . HET Link to ClinVar
156571 166380 not_provided not_provided . . HET Link to ClinVar
336784 290135 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.65535 HOM Link to ClinVar
336790 286996 Uncertain_significance Congenital_Myasthenic_Syndrome,_Recessive . . HET Link to ClinVar
336797 290546 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.65875 HOM Link to ClinVar
336799 287017 Likely_benign Congenital_Myasthenic_Syndrome,_Recessive . 0.10443 HET Link to ClinVar
336801 290139 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.63858 HOM Link to ClinVar
336807 287799 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.64756 HOM Link to ClinVar
336818 290161 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.65875 HOM Link to ClinVar
336821 290554 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.64756 HOM Link to ClinVar
336823 290555 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.66354 HOM Link to ClinVar
336829 290560 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.63838 HOM Link to ClinVar
336839 290180 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.63838 HOM Link to ClinVar
336840 290192 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.64936 HOM Link to ClinVar
336859 287821 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.63818 HOM Link to ClinVar
336873 290634 Uncertain_significance Congenital_Myasthenic_Syndrome,_Recessive . . HOM Link to ClinVar
673466 659425 Benign not_provided . . HET Link to ClinVar
681723 659186 Benign not_provided . . HET Link to ClinVar
257667 250761 Benign/Likely_benign not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 . . HET Link to ClinVar
129151 134597 Benign not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 . 0.64717 HOM Link to ClinVar
681308 659431 Benign not_provided . . HOM Link to ClinVar
681306 659190 Benign not_provided . . HOM Link to ClinVar
681305 659281 Benign not_provided . . HET Link to ClinVar
682687 659283 Benign not_provided . . HOM Link to ClinVar
681304 659432 Benign not_provided . . HOM Link to ClinVar
258543 250762 Benign not_specified
not_provided		 . 0.24401 HET Link to ClinVar
672059 659331 Benign not_provided . . HET Link to ClinVar
682685 659197 Benign not_provided . . HOM Link to ClinVar
681303 659347 Benign not_provided . . HOM Link to ClinVar
258544 250765 Benign not_specified
not_provided		 0.60925 0.65655 HOM Link to ClinVar
671562 659200 Benign not_provided . . HOM Link to ClinVar
683210 659216 Benign not_provided . . HOM Link to ClinVar
683209 659307 Benign not_provided . . HET Link to ClinVar
683208 659223 Benign not_provided . . HET Link to ClinVar
669524 659308 Benign not_provided . . HET Link to ClinVar
673395 659229 Benign not_provided . . HET Link to ClinVar
669523 659238 Benign not_provided . . HET Link to ClinVar
138516 142219 Benign Multiple_mitochondrial_dysfunctions_syndrome
not_specified
not_provided		 0.39284 0.31709 HET Link to ClinVar
669522 659354 Benign not_provided . . HET Link to ClinVar
672905 659445 Benign not_provided . . HET Link to ClinVar
669521 659244 Benign not_provided . . HET Link to ClinVar
336905 287838 Uncertain_significance Premature_ovarian_failure . . HET Link to ClinVar
336907 287106 Benign Premature_ovarian_failure 0.64793 0.79772 HET Link to ClinVar
336909 290660 Benign Premature_ovarian_failure 0.62314 0.76298 HET Link to ClinVar
369346 353575 Benign Renal_tubular_acidosis_with_progressive_nerve_deafness . 0.53035 HOM Link to ClinVar
44228 53395 Benign Renal_tubular_acidosis_with_progressive_nerve_deafness
not_specified		 0.40949 0.36881 HET Link to ClinVar
44231 53398 Benign Renal_tubular_acidosis_with_progressive_nerve_deafness
not_specified		 0.18018 0.15855 HET Link to ClinVar
44222 53389 Benign Renal_tubular_acidosis_with_progressive_nerve_deafness
not_specified		 0.46902 0.4375 HET Link to ClinVar
138182 141885 Benign Methylmalonic_acidemia
not_specified		 0.30564 0.18251 HET Link to ClinVar
668890 659459 Benign not_provided . . HOM Link to ClinVar
677301 659475 Likely_benign not_provided . . HET Link to ClinVar
668122 659332 Benign not_provided . . HOM Link to ClinVar
679370 659484 Benign not_provided . . HOM Link to ClinVar
679411 659333 Benign not_provided . . HOM Link to ClinVar
679412 659385 Benign not_provided . . HOM Link to ClinVar
679413 659260 Benign not_provided . . HOM Link to ClinVar
679414 659264 Benign not_provided . . HOM Link to ClinVar
94368 100268 Benign not_specified 0.47554 0.36781 HOM Link to ClinVar
259065 250776 Benign not_specified
not_provided		 0.74658 0.65635 HOM Link to ClinVar
94268 100168 Benign not_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive		 0.58456 0.45767 HOM Link to ClinVar
679416 659271 Benign not_provided . . HOM Link to ClinVar
679418 659391 Benign not_provided . . HOM Link to ClinVar
679421 659512 Benign not_provided . . HOM Link to ClinVar
668124 659346 Benign not_provided . . HOM Link to ClinVar
94281 100181 Benign not_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.64302 0.57548 HOM Link to ClinVar
679422 659517 Benign not_provided . . HOM Link to ClinVar
668895 659300 Benign not_provided . . HOM Link to ClinVar
94290 100190 Benign not_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.60416 0.55052 HOM Link to ClinVar
679423 659352 Benign not_provided . . HOM Link to ClinVar
679425 659361 Benign not_provided . . HOM Link to ClinVar
681362 659522 Benign not_provided . . HET Link to ClinVar
679986 659309 Benign not_provided . . HET Link to ClinVar
679987 659529 Benign not_provided . . HET Link to ClinVar
668126 659402 Benign not_provided . . HOM Link to ClinVar
679992 659382 Benign not_provided . . HET Link to ClinVar
668898 659403 Benign not_provided . . HET Link to ClinVar
679993 659389 Benign not_provided . . HOM Link to ClinVar
679994 659393 Benign not_provided . . HOM Link to ClinVar
94316 100216 Benign not_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.50146 0.44948 HOM Link to ClinVar
679995 659396 Benign not_provided . . HOM Link to ClinVar
679996 659415 Benign not_provided . . HOM Link to ClinVar
259080 250790 Benign not_specified
not_provided		 0.85937 0.83826 HOM Link to ClinVar
668127 659320 Benign not_provided . . HOM Link to ClinVar
668128 659420 Benign not_provided . . HOM Link to ClinVar
679998 659426 Benign not_provided . . HOM Link to ClinVar
259081 250791 Benign not_specified
not_provided		 0.82018 0.74481 HOM Link to ClinVar
680001 659428 Benign not_provided . . HOM Link to ClinVar
259082 250792 Benign not_specified
not_provided		 0.80685 0.72804 HOM Link to ClinVar
94346 100246 Benign not_specified 0.88508 0.8782 HOM Link to ClinVar
680008 659435 Benign not_provided . . HOM Link to ClinVar
383755 367793 Benign not_specified . 0.2512 HET Link to ClinVar
383767 366927 Benign not_specified 0.60331 0.53275 HET Link to ClinVar
383753 367798 Benign not_specified
not_provided		 . 0.36362 HET Link to ClinVar
504918 496235 Benign not_specified
not_provided		 0.86273 0.8722 HOM Link to ClinVar
383768 366940 Benign Alstrom_syndrome
not_specified
not_provided		 0.59909 0.52636 HET Link to ClinVar
383757 366999 Benign not_specified
not_provided		 0.26088 0.33826 HET Link to ClinVar
379229 366959 Benign not_specified
not_provided		 0.26813 0.36362 HET Link to ClinVar
383758 366730 Benign not_specified
not_provided		 0.26759 0.35883 HET Link to ClinVar
383769 367864 Benign not_specified
not_provided		 0.14322 0.10363 HET Link to ClinVar
383759 367014 Benign not_specified
not_provided		 0.2699 0.36382 HET Link to ClinVar
383760 367891 Benign Alstrom_syndrome
not_specified
not_provided		 . 0.36442 HET Link to ClinVar
383761 366982 Benign not_specified
not_provided		 0.26628 0.35823 HET Link to ClinVar
383762 366756 Benign not_specified
not_provided		 0.26613 0.35823 HET Link to ClinVar
683047 659450 Benign not_provided . . HET Link to ClinVar
383763 366758 Benign not_specified
not_provided		 0.21691 0.25679 HET Link to ClinVar
677826 659586 Benign not_provided . . HET Link to ClinVar
677827 659590 Benign not_provided . . HET Link to ClinVar
669780 659453 Benign not_provided . . HET Link to ClinVar
393379 380199 Benign Monogenic_diabetes
not_specified
not_provided		 0.00597 0.00719 HET Link to ClinVar
383770 367006 Benign not_specified 0.62443 0.55292 HET Link to ClinVar
383764 367925 Benign not_specified
not_provided		 0.63338 0.58227 HET Link to ClinVar
383765 367049 Benign not_specified
not_provided		 0.26358 0.34165 HET Link to ClinVar
677830 659337 Benign not_provided . . HET Link to ClinVar
337039 287232 Likely_benign Alstrom_syndrome . 0.10523 HET Link to ClinVar
160040 168077 Likely_benign not_specified 0.17761 0.15855 HET Link to ClinVar
160041 168078 Likely_benign not_specified 0.08837 0.15955 HET Link to ClinVar
679277 659468 Benign not_provided . . HET Link to ClinVar
679278 659351 Benign not_provided . . HET Link to ClinVar
679279 659474 Benign not_provided . . HET Link to ClinVar
683414 659357 Benign not_provided . . HOM Link to ClinVar
683413 659479 Benign not_provided . . HOM Link to ClinVar
683410 659486 Benign not_provided . . HOM Link to ClinVar
683407 659365 Benign not_provided . . HOM Link to ClinVar
95359 101258 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.05642 0.01737 HET Link to ClinVar
337133 290711 Uncertain_significance Parkinson_Disease,_Dominant 1e-05 . HET Link to ClinVar
337149 290971 Benign Mitochondrial_DNA_depletion_syndrome
Mitochondrial_DNA_depletion_syndrome_9_(encephalomyopathic_with_methylmalonic_aciduria)		 . 0.80212 HOM Link to ClinVar
684111 659367 Benign not_provided . . HOM Link to ClinVar
684110 659624 Benign not_provided . . HOM Link to ClinVar
684109 659503 Benign not_provided . . HOM Link to ClinVar
669574 659373 Benign not_provided . . HET Link to ClinVar
402731 389523 Benign not_specified 0.94875 0.94469 HOM Link to ClinVar
402732 389519 Benign not_specified 0.94393 0.92951 HOM Link to ClinVar
402733 389526 Benign not_specified 0.88362 0.81669 HOM Link to ClinVar
402734 389530 Benign not_specified 0.94655 0.92971 HOM Link to ClinVar
402738 389544 Benign not_specified 0.16296 0.09924 HET Link to ClinVar
402740 389532 Benign not_specified 0.97327 0.98223 HOM Link to ClinVar
402742 389535 Benign not_specified 0.14771 0.11681 HET Link to ClinVar
402745 389533 Benign not_specified 0.18716 0.21206 HET Link to ClinVar
402746 389548 Benign not_specified 0.114 0.10423 HET Link to ClinVar
508141 499965 Benign not_specified 0.04874 0.04273 HET Link to ClinVar
508142 500383 Benign not_specified 0.049 0.04273 HET Link to ClinVar
674848 659381 Benign not_provided . . HET Link to ClinVar
674698 659638 Benign not_provided . . HOM Link to ClinVar
381190 367044 Benign not_specified 0.4529 0.49281 HOM Link to ClinVar
674849 659516 Benign not_provided . . HET Link to ClinVar
337176 288088 Uncertain_significance Vitamin_K-Dependent_Clotting_Factors . 0.01078 HET Link to ClinVar
337179 287342 Benign Vitamin_K-Dependent_Clotting_Factors . 0.49361 HOM Link to ClinVar
337185 291027 Benign Vitamin_K-Dependent_Clotting_Factors . 0.53015 HOM Link to ClinVar
337190 290804 Benign Vitamin_K-Dependent_Clotting_Factors . 0.10763 HET Link to ClinVar
337198 287354 Uncertain_significance Vitamin_K-Dependent_Clotting_Factors . . HET Link to ClinVar
337203 290806 Benign Vitamin_K-Dependent_Clotting_Factors . 0.51018 HOM Link to ClinVar
337204 288100 Benign Vitamin_K-Dependent_Clotting_Factors . 0.28594 HET Link to ClinVar
337217 288159 Benign Vitamin_K-Dependent_Clotting_Factors . 0.49361 HOM Link to ClinVar
337238 291057 Uncertain_significance Vitamin_K-Dependent_Clotting_Factors . 0.00759 HET Link to ClinVar
337243 291059 Benign Vitamin_K-Dependent_Clotting_Factors . . HOM Link to ClinVar
337266 291091 Benign Vitamin_K-Dependent_Clotting_Factors 0.26606 0.28594 HET Link to ClinVar
337268 291110 Benign Vitamin_K-Dependent_Clotting_Factors 0.31979 0.3778 HET Link to ClinVar
337275 290862 Likely_benign Vitamin_K-Dependent_Clotting_Factors 0.03149 0.03994 HET Link to ClinVar
263205 250817 Benign not_specified 0.93652 0.97484 HOM Link to ClinVar
165204 173673 Benign not_specified
Pulmonary_Surfactant_Metabolism_Dysfunction,_Recessive		 0.50372 0.51997 HOM Link to ClinVar
165206 173674 Benign not_specified
Pulmonary_Surfactant_Metabolism_Dysfunction,_Recessive		 0.3553 0.29693 HET Link to ClinVar
165208 173675 Benign not_specified
Pulmonary_Surfactant_Metabolism_Dysfunction,_Recessive		 0.42543 0.41853 HET Link to ClinVar
130382 135829 Benign Salt_and_pepper_developmental_regression_syndrome
not_specified
not_provided		 0.22251 0.20907 HET Link to ClinVar
337344 288254 Benign Spastic_paraplegia,_autosomal_dominant . 0.3736 HET Link to ClinVar
337345 287482 Benign Spastic_paraplegia,_autosomal_dominant . 0.373 HET Link to ClinVar
669113 659639 Benign not_provided . . HET Link to ClinVar
130108 135554 Benign Spastic_paraplegia_31,_autosomal_dominant
not_specified
Spastic_paraplegia,_autosomal_dominant
not_provided		 0.46734 0.42871 HET Link to ClinVar
669110 659438 Benign not_provided . . HET Link to ClinVar
128986 134433 Benign Wolcott-Rallison_dysplasia
not_specified		 0.70206 0.72065 HET Link to ClinVar
128984 134431 Benign Wolcott-Rallison_dysplasia
not_specified		 0.25415 0.20427 HET Link to ClinVar
128988 134435 Benign Wolcott-Rallison_dysplasia
not_specified		 0.63792 0.64896 HET Link to ClinVar
128987 134434 Benign Wolcott-Rallison_dysplasia
not_specified		 0.29828 0.28055 HET Link to ClinVar
337424 291074 Likely_benign Wolcott-Rallison_dysplasia . 0.01577 HET Link to ClinVar
337440 288313 Benign Deficiency_of_ribose-5-phosphate_isomerase . 0.1895 HET Link to ClinVar
337472 291107 Benign Pheochromocytoma . 0.61641 HET Link to ClinVar
677140 659408 Benign not_provided . . HET Link to ClinVar
337536 291176 Likely_benign Retinitis_Pigmentosa,_Dominant 0.30971 0.24601 HET Link to ClinVar
337548 291356 Likely_benign Retinitis_Pigmentosa,_Dominant 0.31901 0.28414 HET Link to ClinVar
337642 291334 Benign Severe_Combined_Immune_Deficiency . 0.14876 HET Link to ClinVar
48327 57489 Benign not_specified . 0.27736 HET Link to ClinVar
261428 250078 Benign not_specified 0.08416 0.07608 HET Link to ClinVar
261429 250079 Benign not_specified 0.1128 0.14417 HET Link to ClinVar
380029 365325 Benign not_specified
not_provided		 0.2604 . HET Link to ClinVar
330683 283642 Benign Hypohidrotic_Ectodermal_Dysplasia,_Dominant . 0.53175 HOM Link to ClinVar
330688 283656 Benign Hypohidrotic_Ectodermal_Dysplasia,_Dominant . 0.66993 HOM Link to ClinVar
330694 283660 Benign Hypohidrotic_Ectodermal_Dysplasia,_Dominant . 0.72085 HOM Link to ClinVar
155862 165611 Benign Hypohidrotic_Ectodermal_Dysplasia,_Dominant
not_provided		 0.90665 0.88299 HOM Link to ClinVar
155865 165614 Benign not_specified
Hypohidrotic_Ectodermal_Dysplasia,_Dominant
not_provided		 0.81027 0.71186 HOM Link to ClinVar
155864 165613 Uncertain_significance not_provided 0.79503 0.67432 HOM Link to ClinVar
155870 165619 Benign not_specified
Hypohidrotic_Ectodermal_Dysplasia,_Dominant
not_provided		 0.91697 0.92133 HOM Link to ClinVar
155869 165618 Uncertain_significance not_provided . 0.66554 HOM Link to ClinVar
155867 165616 Uncertain_significance not_provided 0.91901 0.92752 HOM Link to ClinVar
255705 250088 Benign not_specified 0.36133 0.378 HET Link to ClinVar
92719 98626 Benign Nephronophthisis
Joubert_syndrome
Renal_dysplasia_and_retinal_aplasia
not_specified
not_provided		 0.37931 0.47444 HET Link to ClinVar
330746 283717 Likely_benign Retinitis_Pigmentosa,_Recessive 0.58446 0.51478 HET Link to ClinVar
330754 281580 Likely_benign Retinitis_Pigmentosa,_Recessive 0.59717 0.5615 HET Link to ClinVar
330759 282252 Likely_benign Retinitis_Pigmentosa,_Recessive 0.59732 0.5615 HET Link to ClinVar
330762 281586 Likely_benign Retinitis_Pigmentosa,_Recessive 0.58245 0.51518 HET Link to ClinVar
330766 282254 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.29693 HET Link to ClinVar
330770 283784 Likely_benign Retinitis_Pigmentosa,_Recessive . . HET Link to ClinVar
770130 696975 Benign not_provided . . HET Link to ClinVar
14671 29710 risk_factor Gastric_cancer_susceptibility_after_h._pylori_infection . 0.47244 HOM Link to ClinVar
767816 696980 Benign not_provided . . HET Link to ClinVar
330783 283604 Benign Pustular_psoriasis,_generalized . 0.71526 HET Link to ClinVar
330784 283793 Benign Pustular_psoriasis,_generalized . 0.71546 HET Link to ClinVar
330787 283612 Benign Pustular_psoriasis,_generalized . 0.71546 HET Link to ClinVar
330789 282259 Benign Pustular_psoriasis,_generalized . 0.71506 HET Link to ClinVar
330790 283794 Benign Pustular_psoriasis,_generalized . 0.71506 HET Link to ClinVar
330791 282260 Benign Pustular_psoriasis,_generalized . 0.71526 HET Link to ClinVar
330792 283621 Benign Pustular_psoriasis,_generalized . 0.71526 HET Link to ClinVar
330796 283623 Benign Pustular_psoriasis,_generalized . 0.86981 HOM Link to ClinVar
330798 281597 Benign Pustular_psoriasis,_generalized . 0.71526 HET Link to ClinVar
330802 281598 Benign Pustular_psoriasis,_generalized . 0.71526 HET Link to ClinVar
537717 516358 Benign not_provided . 0.25459 HET Link to ClinVar
330827 283875 Benign Osteomyelitis,_sterile_multifocal,_with_periostitis_and_pustulosis
not_specified		 . 0.35004 HET Link to ClinVar
330832 281620 Benign Osteomyelitis,_sterile_multifocal,_with_periostitis_and_pustulosis . 0.35503 HET Link to ClinVar
330853 281649 Likely_benign Congenital_hypothyroidism . 0.45567 HET Link to ClinVar
330858 281655 Benign Congenital_hypothyroidism . 0.79433 HOM Link to ClinVar
330861 283928 Likely_benign Congenital_hypothyroidism . 0.45427 HET Link to ClinVar
330864 282309 Likely_benign Congenital_hypothyroidism . 0.32488 HET Link to ClinVar
330882 283980 Uncertain_significance Congenital_hypothyroidism . 0.02716 HET Link to ClinVar
767819 696990 Benign not_provided . . HOM Link to ClinVar
801743 790036 Benign Holoprosencephaly_1 . . HOM Link to ClinVar
439758 433591 Benign not_specified . 0.9387 HOM Link to ClinVar
259731 250113 Benign not_specified . 1 HOM Link to ClinVar
259732 250114 Benign not_specified 0.92342 0.78594 HOM Link to ClinVar
259733 250115 Benign not_specified 0.92023 0.78594 HOM Link to ClinVar
259736 250118 Benign Holoprosencephaly_sequence
not_specified		 0.94007 0.82728 HOM Link to ClinVar
259709 250121 Benign not_specified 0.9558 0.8766 HOM Link to ClinVar
259710 250122 Benign not_specified 0.95722 0.877 HOM Link to ClinVar
259716 250127 Likely_benign not_specified . 0.00539 HET Link to ClinVar
259717 250128 Benign not_specified 0.90775 0.77975 HOM Link to ClinVar
259725 250136 Benign not_specified 0.64099 0.51957 HOM Link to ClinVar
95271 101170 Benign Holoprosencephaly_sequence
not_specified		 0.6296 0.50899 HOM Link to ClinVar
95272 101171 Benign Holoprosencephaly_sequence
not_specified		 0.64635 0.56709 HOM Link to ClinVar
95273 101172 Benign Holoprosencephaly_sequence
not_specified		 0.63438 0.51238 HOM Link to ClinVar
331006 282392 Benign Holoprosencephaly_sequence . 0.50779 HOM Link to ClinVar
678269 658064 Benign not_provided . . HET Link to ClinVar
678268 658033 Benign not_provided . . HET Link to ClinVar
678267 658044 Benign not_provided . . HET Link to ClinVar
668877 658180 Benign not_provided . . HET Link to ClinVar
678266 658049 Benign not_provided . . HET Link to ClinVar
678252 658051 Benign not_provided . . HET Link to ClinVar
678251 658090 Benign not_provided . . HET Link to ClinVar
158019 167866 Benign/Likely_benign Autosomal_recessive_centronuclear_myopathy
not_specified		 0.158 0.09724 HET Link to ClinVar
678250 658219 Benign not_provided . . HET Link to ClinVar
678249 658105 Benign not_provided . . HET Link to ClinVar
158017 167864 Benign/Likely_benign Autosomal_recessive_centronuclear_myopathy
not_specified		 0.37037 0.34525 HET Link to ClinVar
678248 658221 Benign not_provided . . HET Link to ClinVar
678247 658224 Benign not_provided . . HET Link to ClinVar
678246 658056 Benign not_provided . . HET Link to ClinVar
678128 658106 Benign not_provided . . HET Link to ClinVar
678127 658110 Benign not_provided . . HET Link to ClinVar
678126 658058 Benign not_provided . . HET Link to ClinVar
680092 658230 Benign not_provided . . HET Link to ClinVar
678125 658231 Benign not_provided . . HET Link to ClinVar
678124 658067 Benign not_provided . . HET Link to ClinVar
678123 658233 Benign not_provided . . HET Link to ClinVar
668023 658202 Benign not_provided . . HET Link to ClinVar
255808 250153 Benign/Likely_benign Thrombophilia,_hereditary,_due_to_protein_C_deficiency,_autosomal_dominant
not_specified		 0.45137 0.39317 HOM Link to ClinVar
255809 250154 Benign/Likely_benign Thrombophilia,_hereditary,_due_to_protein_C_deficiency,_autosomal_dominant
not_specified
not_provided		 0.6343 0.64577 HET Link to ClinVar
255810 250155 Benign/Likely_benign Thrombophilia,_hereditary,_due_to_protein_C_deficiency,_autosomal_dominant
not_specified
not_provided		 0.28278 0.22983 HET Link to ClinVar
260987 250158 Benign not_specified 0.60344 0.54513 HET Link to ClinVar
475544 448571 Benign not_provided . 0.0012 HET Link to ClinVar
130064 135510 Benign Warburg_micro_syndrome_1
Warburg_micro_syndrome
not_specified
not_provided		 . 0.21446 HET Link to ClinVar
130067 135513 Benign Warburg_micro_syndrome_1
Warburg_micro_syndrome
not_specified
not_provided		 0.51736 0.78674 HET Link to ClinVar
331154 281844 Likely_benign Lactose_intolerance
Congenital_lactase_deficiency		 . . HET Link to ClinVar
331159 281846 Benign Lactose_intolerance
Congenital_lactase_deficiency		 0.7967 0.73962 HET Link to ClinVar
331164 284145 Benign Lactose_intolerance
Congenital_lactase_deficiency		 0.62146 0.44149 HET Link to ClinVar
331168 282507 Benign Lactose_intolerance
Congenital_lactase_deficiency		 0.60581 0.44269 HET Link to ClinVar
331172 281859 Benign Lactose_intolerance
Congenital_lactase_deficiency		 0.7532 0.66014 HET Link to ClinVar
331201 281883 Uncertain_significance Lactose_intolerance
Congenital_lactase_deficiency		 0.00063 0.0004 HET Link to ClinVar
331202 284166 Benign Lactose_intolerance
Congenital_lactase_deficiency		 0.55588 0.35603 HET Link to ClinVar
331204 282521 Benign Lactose_intolerance
Congenital_lactase_deficiency		 0.99435 0.97923 HOM Link to ClinVar
331207 281884 Benign Lactose_intolerance
Congenital_lactase_deficiency		 . 0.35503 HET Link to ClinVar
331210 281889 Benign Lactose_intolerance
Congenital_lactase_deficiency		 0.54873 0.34844 HET Link to ClinVar
7685 22724 association Lactase_persistence . 0.16134 HET Link to ClinVar
7686 22725 association Lactase_persistence . 0.16334 HET Link to ClinVar
331272 284502 Benign Mowat-Wilson_syndrome . 0.99581 HOM Link to ClinVar
670342 658232 Benign not_provided . . HOM Link to ClinVar
672368 658234 Benign not_provided . . HET Link to ClinVar
670341 658237 Benign not_provided . . HET Link to ClinVar
159483 168039 Benign Meier-Gorlin_syndrome_2
not_specified		 . 0.35583 HET Link to ClinVar
683131 658139 Benign not_provided . . HET Link to ClinVar
331350 284330 Likely_benign Intellectual_Disability,_Dominant . 0.44908 HET Link to ClinVar
682897 658120 Benign not_provided . . HET Link to ClinVar
669391 658152 Benign not_provided . . HOM Link to ClinVar
670017 658268 Benign not_provided . . HOM Link to ClinVar
683976 658134 Benign not_provided . . HOM Link to ClinVar
331373 282037 Benign Methylmalonic_acidemia
Disorders_of_Intracellular_Cobalamin_Metabolism		 . 0.55312 HOM Link to ClinVar
331374 282047 Benign Methylmalonic_acidemia
Disorders_of_Intracellular_Cobalamin_Metabolism		 . 0.99601 HOM Link to ClinVar
285847 270084 Conflicting_interpretations_of_pathogenicity Methylmalonic_acidemia
Disorders_of_Intracellular_Cobalamin_Metabolism
not_provided		 0.00207 0.0006 HET Link to ClinVar
260678 250172 Likely_benign not_specified 0.75397 0.6216 HOM Link to ClinVar
682622 658271 Benign not_provided . . HOM Link to ClinVar
203836 199984 Benign Methylmalonic_acidemia
Methylmalonic_acidemia_with_homocystinuria_cblD
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified		 0.86807 0.75959 HOM Link to ClinVar
95126 101026 Benign not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.41358 0.33427 HET Link to ClinVar
257804 250179 Benign not_specified 0.29929 0.20168 HET Link to ClinVar
95122 101022 Benign not_specified
not_provided		 0.66238 0.63838 HOM Link to ClinVar
95120 101020 Benign not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.64994 0.6278 HET Link to ClinVar
257792 250189 Benign not_specified 0.58954 0.53594 HET Link to ClinVar
95116 101016 Benign not_specified
not_provided		 . 0.54573 HET Link to ClinVar
95114 101014 Benign not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.58301 0.49161 HET Link to ClinVar
95112 101012 Benign not_specified
Nemaline_Myopathy,_Recessive
not_provided		 . . HET Link to ClinVar
257786 250194 Benign not_specified 0.5837 0.4988 HET Link to ClinVar
257783 250198 Benign not_specified 0.64022 0.624 HET Link to ClinVar
95109 101009 Benign not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.6707 0.65316 HET Link to ClinVar
331463 284405 Benign Nemaline_myopathy_2
Nemaline_Myopathy,_Recessive
not_provided		 . . HET Link to ClinVar
257766 250212 Benign not_specified 0 0.30751 HET Link to ClinVar
257720 250255 Benign not_specified . 0.2488 HET Link to ClinVar
95102 101002 Benign Nemaline_myopathy_2
not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.28911 0.21985 HET Link to ClinVar
226848 228541 Benign not_specified
not_provided		 . 0.626 HET Link to ClinVar
226847 228542 Benign not_specified
not_provided		 0.99282 0.97205 HOM Link to ClinVar
95131 101031 Benign not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.73856 0.53315 HOM Link to ClinVar
167336 177860 Benign not_specified 0.82649 0.71605 HOM Link to ClinVar
95128 101028 Benign not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.74994 0.58347 HOM Link to ClinVar
257767 250296 Benign not_specified . 0.4988 HOM Link to ClinVar
257832 250301 Benign not_specified 0.74542 0.56929 HOM Link to ClinVar
95136 101036 Benign Nemaline_myopathy_2
not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.74375 0.56929 HOM Link to ClinVar
331558 282210 Benign Episodic_ataxia
Juvenile_myoclonic_epilepsy		 . 0.8784 HOM Link to ClinVar
331574 284875 Benign Episodic_ataxia
Juvenile_myoclonic_epilepsy		 . 0.46026 HET Link to ClinVar
331610 282946 Benign Episodic_ataxia
Juvenile_myoclonic_epilepsy		 . 0.10543 HET Link to ClinVar
331614 284493 Benign Episodic_ataxia
Juvenile_myoclonic_epilepsy		 . 0.03914 HET Link to ClinVar
331619 282291 Benign Episodic_ataxia
Juvenile_myoclonic_epilepsy		 . . HET Link to ClinVar
331624 282984 Uncertain_significance Episodic_ataxia
Juvenile_myoclonic_epilepsy		 . . HET Link to ClinVar
331653 284954 Benign Parkinson_Disease,_Dominant/Recessive . . HET Link to ClinVar
331655 283004 Benign Parkinson_Disease,_Dominant/Recessive . 0.28634 HET Link to ClinVar
331685 282340 Benign Progressive_myositis_ossificans . 0.08207 HET Link to ClinVar
257466 250303 Benign Progressive_myositis_ossificans
not_specified		 0.96419 0.91394 HOM Link to ClinVar
257464 250304 Benign Progressive_myositis_ossificans
not_specified		 0.75017 0.65096 HOM Link to ClinVar
218475 215223 Benign not_specified . . HOM Link to ClinVar
587787 578942 Benign History_of_neurodevelopmental_disorder 0.82305 0.75859 HOM Link to ClinVar
261566 250306 Benign not_specified 0.50471 0.35663 HOM Link to ClinVar
261565 250307 Benign Singleton-Merten_syndrome_1
not_specified		 0.67622 0.58986 HOM Link to ClinVar
167650 178049 Benign not_specified . 0.18171 HET Link to ClinVar
586501 576575 Benign not_provided 0.50676 0.63458 HET Link to ClinVar
95445 101344 Benign not_specified 0.22148 0.25739 HET Link to ClinVar
684237 658142 Benign not_provided . . HOM Link to ClinVar
669359 658184 Benign not_provided . . HET Link to ClinVar
670843 658190 Benign not_provided . . HET Link to ClinVar
130216 135663 Benign Benign_familial_neonatal-infantile_seizures
History_of_neurodevelopmental_disorder
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided		 0.80165 0.77236 HOM Link to ClinVar
684238 658151 Benign not_provided . . HOM Link to ClinVar
261400 250321 Benign not_specified 0.5205 0.5028 HOM Link to ClinVar
684239 658197 Benign not_provided . . HOM Link to ClinVar
669320 658154 Benign not_provided . . HOM Link to ClinVar
684240 658157 Benign not_provided . . HOM Link to ClinVar
669322 658329 Benign not_provided . . HET Link to ClinVar
684241 658332 Benign not_provided . . HOM Link to ClinVar
669328 658225 Benign not_provided . . HET Link to ClinVar
669329 658228 Benign not_provided . . HET Link to ClinVar
684243 658279 Benign not_provided . . HET Link to ClinVar
684247 658175 Benign not_provided . . HET Link to ClinVar
669330 658290 Benign not_provided . . HET Link to ClinVar
684249 658245 Benign not_provided . . HET Link to ClinVar
684250 658336 Benign not_provided . . HET Link to ClinVar
669360 658250 Benign not_provided . . HET Link to ClinVar
670621 658177 Benign not_provided . . HET Link to ClinVar
669361 658182 Benign not_provided . . HET Link to ClinVar
669332 658312 Benign not_provided . . HET Link to ClinVar
668723 658317 Benign not_provided . . HET Link to ClinVar
331756 283078 Benign Benign_familial_neonatal-infantile_seizures
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant		 . 0.38339 HET Link to ClinVar
331778 282414 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial . 0.32528 HOM Link to ClinVar
331801 282447 Likely_benign Joubert_syndrome
Jeune_thoracic_dystrophy		 . 0.09105 HOM Link to ClinVar
671929 658189 Benign not_provided . . HOM Link to ClinVar
667577 658195 Benign not_provided . . HOM Link to ClinVar
130652 136098 Benign Joubert_syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided		 0.33023 0.27736 HOM Link to ClinVar
667576 658198 Benign not_provided . . HOM Link to ClinVar
674966 658201 Benign not_provided . . HOM Link to ClinVar
130650 136096 Benign Joubert_syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided		 0.33312 0.29173 HOM Link to ClinVar
674965 658263 Benign not_provided . . HOM Link to ClinVar
670824 658278 Benign not_provided . . HOM Link to ClinVar
130660 136106 Benign Joubert_syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided		 0.98526 0.94808 HOM Link to ClinVar
670255 658209 Benign not_provided . . HOM Link to ClinVar
331873 285246 Benign Epilepsy
Familial_hemiplegic_migraine		 . 0.9972 HOM Link to ClinVar
669358 658226 Benign not_provided . . HOM Link to ClinVar
36753 45414 Benign Epilepsy
Familial_hemiplegic_migraine
History_of_neurodevelopmental_disorder
Generalized_epilepsy_with_febrile_seizures_plus
not_specified
not_provided		 0.72521 0.78854 HOM Link to ClinVar
487362 480426 Benign Generalized_epilepsy_with_febrile_seizures_plus,_type_2
Familial_hemiplegic_migraine_type_3
Severe_myoclonic_epilepsy_in_infancy		 0.7222 0.78874 HOM Link to ClinVar
670620 658377 Benign not_provided . . HOM Link to ClinVar
669303 658379 Benign not_provided . . HOM Link to ClinVar
674941 658311 Benign not_provided . . HOM Link to ClinVar
669301 658249 Benign not_provided . . HOM Link to ClinVar
684229 658313 Benign not_provided . . HOM Link to ClinVar
36752 45413 Benign Epilepsy
Familial_hemiplegic_migraine
Generalized_epilepsy_with_febrile_seizures_plus,_type_2
Familial_hemiplegic_migraine_type_3
History_of_neurodevelopmental_disorder
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
not_provided		 . 0.78894 HOM Link to ClinVar
331890 282540 Benign Epilepsy
Familial_hemiplegic_migraine		 . . HOM Link to ClinVar
670842 658253 Benign not_provided . . HOM Link to ClinVar
669300 658257 Benign not_provided . . HOM Link to ClinVar
684225 658343 Benign not_provided . . HOM Link to ClinVar
670599 658382 Benign not_provided . . HOM Link to ClinVar
684217 658324 Benign not_provided . . HOM Link to ClinVar
670598 658334 Benign not_provided . . HOM Link to ClinVar
36751 45412 Benign Epilepsy
Familial_hemiplegic_migraine
Generalized_epilepsy_with_febrile_seizures_plus,_type_2
Familial_hemiplegic_migraine_type_3
History_of_neurodevelopmental_disorder
Severe_myoclonic_epilepsy_in_infancy
not_specified
not_provided		 0.70339 0.70927 HOM Link to ClinVar
669299 658335 Benign not_provided . . HOM Link to ClinVar
684216 658258 Benign not_provided . . HOM Link to ClinVar
674940 658349 Benign not_provided . . HOM Link to ClinVar
670841 658350 Benign not_provided . . HOM Link to ClinVar
670597 658337 Benign not_provided . . HOM Link to ClinVar
496114 486945 Benign not_provided 0.52482 0.498 HOM Link to ClinVar
378510 365909 Benign not_specified . 0.70907 HOM Link to ClinVar
674939 658351 Benign not_provided . . HOM Link to ClinVar
684215 658397 Benign not_provided . . HOM Link to ClinVar
684214 658354 Benign not_provided . . HOM Link to ClinVar
12897 27936 drug_response Febrile_seizures,_familial,_3a
carbamazepine_response_-_Dosage
phenytoin_response_-_Dosage
antiepileptics_response_-_Efficacy
carbamazepine_response_-_Efficacy		 . 0.49341 HOM Link to ClinVar
674938 658360 Benign not_provided . . HOM Link to ClinVar
669297 658277 Benign not_provided . . HOM Link to ClinVar
668972 658358 Benign not_provided . . HOM Link to ClinVar
669296 658369 Benign not_provided . . HOM Link to ClinVar
669295 658359 Benign not_provided . . HOM Link to ClinVar
669294 658364 Benign not_provided . . HOM Link to ClinVar
331903 283192 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.08846 HET Link to ClinVar
331907 284812 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.42232 HET Link to ClinVar
331908 282565 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . . HET Link to ClinVar
331913 283202 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.03235 HET Link to ClinVar
331921 284821 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.04673 HET Link to ClinVar
331925 282571 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.08367 HET Link to ClinVar
331926 283209 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.03235 HET Link to ClinVar
331936 285321 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.08846 HET Link to ClinVar
331938 283243 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.08347 HET Link to ClinVar
331944 284837 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . 0.04673 HET Link to ClinVar
331948 285329 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . . HET Link to ClinVar
331950 282582 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
Familial_febrile_seizures
Inherited_Erythromelalgia		 . . HET Link to ClinVar
130270 135717 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia
not_provided		 0.06198 0.03195 HET Link to ClinVar
258888 250346 Benign not_specified 0.88503 0.90136 HOM Link to ClinVar
167657 178055 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia
not_provided		 . . HOM Link to ClinVar
130266 135713 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia
not_provided		 0.0737 0.03215 HET Link to ClinVar
440255 433906 Benign not_specified 0.86926 0.88718 HOM Link to ClinVar
167659 178056 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia		 0.52735 0.54573 HOM Link to ClinVar
21344 34196 Benign/Likely_benign Primary_erythromelalgia
Generalized_epilepsy_with_febrile_seizures_plus,_type_7
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
Inherited_Erythromelalgia
not_provided		 0.02403 0.01238 HET Link to ClinVar
130257 135704 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia
not_provided		 0.49441 0.54673 HOM Link to ClinVar
130256 135703 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia
not_provided		 0.37304 0.35443 HOM Link to ClinVar
130254 135701 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia
not_provided		 0.374 0.35443 HOM Link to ClinVar
130269 135716 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia
not_provided		 . 0.64117 HET Link to ClinVar
130259 135706 Benign Congenital_Indifference_to_Pain
Paroxysmal_extreme_pain_disorder
Small_fiber_neuropathy
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
Familial_febrile_seizures
Inherited_Erythromelalgia
not_provided		 0.5874 0.57428 HET Link to ClinVar
781822 707826 Benign not_provided . . HET Link to ClinVar
332013 285408 Benign Progressive_familial_intrahepatic_cholestasis . 0.50719 HET Link to ClinVar
332014 282611 Benign Progressive_familial_intrahepatic_cholestasis . 0.50679 HET Link to ClinVar
332018 283364 Benign Progressive_familial_intrahepatic_cholestasis . 0.72923 HOM Link to ClinVar
259152 250356 Benign Progressive_familial_intrahepatic_cholestasis
not_specified		 0.5557 0.49681 HET Link to ClinVar
259148 250359 Benign not_specified 0.76633 0.85523 HOM Link to ClinVar
259147 250360 Benign not_specified 0.53985 0.4976 HOM Link to ClinVar
194214 191377 Benign Progressive_familial_intrahepatic_cholestasis
not_specified		 0.57943 0.58866 HET Link to ClinVar
259158 250364 Benign Progressive_familial_intrahepatic_cholestasis
not_specified		 0.70531 0.77416 HET Link to ClinVar
129502 134948 Benign Donnai_Barrow_syndrome
not_specified		 0.68389 0.55951 HOM Link to ClinVar
129501 134947 Benign Donnai_Barrow_syndrome
not_specified		 0.71764 0.55591 HOM Link to ClinVar
129500 134946 Benign Donnai_Barrow_syndrome
not_specified		 0.76213 0.77796 HOM Link to ClinVar
129493 134939 Benign Donnai_Barrow_syndrome
not_specified		 0.20262 0.1907 HOM Link to ClinVar
129526 134972 Benign Donnai_Barrow_syndrome
not_specified		 0.33374 0.46126 HET Link to ClinVar
259418 250376 Benign not_specified 0.39328 0.44409 HET Link to ClinVar
259416 250378 Benign not_specified 0.53831 0.61861 HET Link to ClinVar
129519 134965 Benign Donnai_Barrow_syndrome
not_specified		 0.5231 0.58187 HET Link to ClinVar
259414 250380 Benign not_specified . 0.02117 HET Link to ClinVar
259413 250381 Benign Donnai_Barrow_syndrome
not_specified		 0.5373 0.61861 HET Link to ClinVar
129516 134962 Benign Donnai_Barrow_syndrome
not_specified		 0.53848 0.61861 HET Link to ClinVar
129515 134961 Benign Donnai_Barrow_syndrome
not_specified		 0.49208 0.45647 HET Link to ClinVar
129510 134956 Benign Donnai_Barrow_syndrome
not_specified		 0.54644 0.6224 HET Link to ClinVar
129507 134953 Benign Donnai_Barrow_syndrome
not_specified		 0.62454 0.60963 HOM Link to ClinVar
129539 134985 Benign/Likely_benign Donnai_Barrow_syndrome
not_specified		 . 0.04034 HET Link to ClinVar
259421 250382 Benign not_specified 0.06164 0.03894 HET Link to ClinVar
259422 250383 Benign Donnai_Barrow_syndrome
not_specified		 0.99639 0.98463 HOM Link to ClinVar
129534 134980 Benign Donnai_Barrow_syndrome
not_specified		 0.99711 0.98463 HOM Link to ClinVar
262633 250384 Benign not_specified 0.91069 0.91753 HOM Link to ClinVar
332221 282779 Benign Cerebral_palsy_spastic_quadriplegic . 0.17552 HET Link to ClinVar
128889 134336 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities
not_specified		 0.27232 0.30671 HET Link to ClinVar
128892 134339 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities
not_specified		 0.22666 0.20667 HET Link to ClinVar
128887 134334 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities
not_specified		 0.22428 0.20607 HET Link to ClinVar
332280 283636 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities 0.26327 0.20647 HET Link to ClinVar
332281 285663 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities 0.26313 0.20607 HET Link to ClinVar
332297 285190 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities 0.99861 0.97744 HOM Link to ClinVar
332300 283665 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities 0.26431 0.20647 HET Link to ClinVar
332306 285733 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities 0.2825 0.27176 HET Link to ClinVar
332311 285742 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities 0.26482 0.20647 HET Link to ClinVar
332313 282851 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities 0.26338 0.20647 HET Link to ClinVar
332323 285205 Likely_benign Hypomyelination,_global_cerebral . 0.10144 HET Link to ClinVar
332344 285231 Likely_benign Hypomyelination,_global_cerebral
not_provided		 0.26711 0.26737 HET Link to ClinVar
332346 282898 Benign Hypomyelination,_global_cerebral
not_provided		 0.85671 0.79094 HOM Link to ClinVar
332352 285786 Likely_benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia . 0.07009 HET Link to ClinVar
332356 285264 Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia 0.35604 0.5006 HET Link to ClinVar
332357 285266 Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia 0.34629 0.48902 HET Link to ClinVar
332360 285272 Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia 0.28096 0.2516 HET Link to ClinVar
332365 283693 Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia . 0.40715 HOM Link to ClinVar
332371 283697 Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia . 0.08706 HET Link to ClinVar
332395 282931 Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia . 0.63399 HOM Link to ClinVar
332418 282948 Likely_benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia . . HET Link to ClinVar
769575 697167 Benign not_provided . . HET Link to ClinVar
403608 389462 Benign Wiskott-Aldrich_syndrome_2
not_specified		 0.94105 0.90795 HOM Link to ClinVar
679134 658373 Benign not_provided . . HOM Link to ClinVar
679133 658384 Benign not_provided . . HOM Link to ClinVar
679132 658388 Benign not_provided . . HOM Link to ClinVar
332445 283798 Benign Multiple_pterygium_syndrome_Escobar_type
not_specified
Congenital_Myasthenic_Syndrome,_Dominant/Recessive		 . . HOM Link to ClinVar
257237 250401 Benign not_specified
not_provided		 0.99933 0.9982 HOM Link to ClinVar
679129 658394 Benign not_provided . . HOM Link to ClinVar
668089 658395 Benign not_provided . . HOM Link to ClinVar
257235 250402 Benign Multiple_pterygium_syndrome_Escobar_type
not_specified
Congenital_Myasthenic_Syndrome,_Dominant/Recessive		 . . HOM Link to ClinVar
679128 658283 Benign not_provided . . HOM Link to ClinVar
679127 658284 Benign not_provided . . HOM Link to ClinVar
680121 658424 Benign not_provided . . HOM Link to ClinVar
332464 283832 Likely_benign Duane's_syndrome 0.43354 0.33686 HET Link to ClinVar
193107 190272 Benign not_specified 0.36828 0.44788 HET Link to ClinVar
332506 285895 Benign Vertical_talus,_congenital . 0.25379 HET Link to ClinVar
683748 658401 Benign not_provided . . HOM Link to ClinVar
683753 658405 Benign not_provided . . HOM Link to ClinVar
683756 658434 Benign not_provided . . HOM Link to ClinVar
683770 658436 Benign not_provided . . HOM Link to ClinVar
683775 658447 Benign not_provided . . HOM Link to ClinVar
683777 658411 Benign not_provided . . HOM Link to ClinVar
683779 658412 Benign not_provided . . HOM Link to ClinVar
332549 283057 Benign Rhizomelic_chondrodysplasia_punctata . . HOM Link to ClinVar
332583 285569 Benign Rhizomelic_chondrodysplasia_punctata . 0.69669 HOM Link to ClinVar
332585 285580 Benign Rhizomelic_chondrodysplasia_punctata . . HOM Link to ClinVar
332592 283120 Benign Rhizomelic_chondrodysplasia_punctata . 0.877 HOM Link to ClinVar
332599 283878 Benign Rhizomelic_chondrodysplasia_punctata . 0.8764 HOM Link to ClinVar
332611 286048 Benign Dystonia . . HET Link to ClinVar
332612 283881 Benign Dystonia . . HET Link to ClinVar
332613 285621 Uncertain_significance Dystonia . . HET Link to ClinVar
332615 283885 Benign Dystonia . 0.21486 HET Link to ClinVar
332618 283886 Uncertain_significance Dystonia . . HET Link to ClinVar
332620 285627 Benign Dystonia 0.24498 . HET Link to ClinVar
469612 449299 Benign not_provided 0.00782 0.0028 HET Link to ClinVar
47691 56855 Conflicting_interpretations_of_pathogenicity Cardiomyopathy
Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.00888 0.00319 HET Link to ClinVar
47452 56616 Benign/Likely_benign Cardiomyopathy
not_specified
Cardiovascular_phenotype
not_provided		 0.00892 0.0028 HET Link to ClinVar
47367 56532 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.23681 0.12999 HOM Link to ClinVar
47293 56458 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 . 0.14657 HOM Link to ClinVar
47286 56451 Uncertain_significance Limb-girdle_muscular_dystrophy,_type_2J
Dilated_cardiomyopathy_1G
not_specified
not_provided		 0.00025 . HET Link to ClinVar
47250 56415 Benign/Likely_benign Cardiomyopathy
Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.99863 0.99461 HOM Link to ClinVar
47218 56383 Benign/Likely_benign Hypertrophic_cardiomyopathy
Limb-girdle_muscular_dystrophy,_type_2J
Distal_myopathy_Markesbery-Griggs_type
Dilated_cardiomyopathy_1G
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.02564 0.01078 HET Link to ClinVar
595148 586210 Uncertain_significance not_provided 2e-05 . HET Link to ClinVar
47120 56285 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.23487 0.127 HOM Link to ClinVar
46886 56051 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.23473 0.126 HOM Link to ClinVar
46859 56024 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.39948 0.41334 HOM Link to ClinVar
46714 55879 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.99496 0.98203 HOM Link to ClinVar
46590 55755 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.99488 0.98183 HOM Link to ClinVar
47743 56907 Benign not_specified 0.9926 0.97504 HOM Link to ClinVar
47736 56900 Benign not_specified 0.82709 0.73303 HOM Link to ClinVar
47735 56899 Benign not_specified 0.99261 0.97504 HOM Link to ClinVar
47733 56897 Benign not_specified 0.99256 0.97504 HOM Link to ClinVar
680821 658475 Benign not_provided . . HOM Link to ClinVar
47852 57016 Benign not_specified
not_provided		 0.8508 0.80451 HOM Link to ClinVar
137832 141535 Benign not_specified
not_provided		 0.99969 0.999 HOM Link to ClinVar
46582 55747 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.85117 0.80891 HOM Link to ClinVar
47707 56871 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.9921 0.97364 HOM Link to ClinVar
47692 56856 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.85002 0.80491 HOM Link to ClinVar
47063 56228 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.95877 0.91154 HOM Link to ClinVar
47001 56166 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.96058 0.92013 HOM Link to ClinVar
46973 56138 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.69444 0.5002 HOM Link to ClinVar
680819 658485 Benign not_provided . . HOM Link to ClinVar
680817 658491 Benign not_provided . . HOM Link to ClinVar
46774 55939 Benign/Likely_benign Hypertrophic_cardiomyopathy
Distal_myopathy_Markesbery-Griggs_type
Myopathy,_myofibrillar,_9,_with_early_respiratory_failure
Myopathy,_early-onset,_with_fatal_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.31922 0.20467 HOM Link to ClinVar
672045 658492 Benign not_provided . . HOM Link to ClinVar
672044 658662 Benign not_provided . . HOM Link to ClinVar
671211 658509 Benign not_provided . . HOM Link to ClinVar
332979 283440 Benign Retinitis_Pigmentosa,_Recessive 0.99826 0.99141 HOM Link to ClinVar
332987 286027 Benign Retinitis_Pigmentosa,_Recessive 0.99824 0.99141 HOM Link to ClinVar
333001 284119 Benign Retinitis_Pigmentosa,_Recessive 0.76889 0.76757 HET Link to ClinVar
166844 177576 Benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.99748 0.99121 HOM Link to ClinVar
257149 250436 Benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.62394 0.64836 HET Link to ClinVar
166846 177577 Benign Retinitis_pigmentosa_26
not_specified		 0.61807 0.64796 HET Link to ClinVar
166848 177578 Benign/Likely_benign Retinitis_pigmentosa_26
not_specified
Retinitis_Pigmentosa,_Recessive		 0.1602 0.27117 HET Link to ClinVar
166849 177579 Benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.52571 0.50739 HOM Link to ClinVar
801839 790136 Benign Maturity_onset_diabetes_mellitus_in_young . . HOM Link to ClinVar
333042 286090 Benign Maturity_onset_diabetes_mellitus_in_young . 0.77816 HOM Link to ClinVar
673782 658588 Benign not_provided . . HOM Link to ClinVar
670961 658634 Benign not_provided . . HOM Link to ClinVar
678460 658519 Benign not_provided . . HOM Link to ClinVar
683360 658693 Likely_benign not_provided . . HET Link to ClinVar
199694 196782 Conflicting_interpretations_of_pathogenicity Ehlers-Danlos_syndrome,_type_4
Thoracic_aortic_aneurysm_and_aortic_dissection
Cardiovascular_phenotype		 . . HET Link to ClinVar
670964 658643 Benign not_provided . . HOM Link to ClinVar
670965 658541 Benign not_provided . . HOM Link to ClinVar
672236 658648 Benign not_provided . . HOM Link to ClinVar
254962 250446 Benign not_specified
not_provided		 0.75866 0.77636 HOM Link to ClinVar
674274 658555 Benign not_provided . . HOM Link to ClinVar
683353 658663 Benign not_provided . . HOM Link to ClinVar
226540 228910 Benign Ehlers-Danlos_syndrome,_type_4
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified		 0.99851 0.99661 HOM Link to ClinVar
672310 658664 Benign not_provided . . HOM Link to ClinVar
670990 658674 Benign not_provided . . HOM Link to ClinVar
672287 658665 Benign not_provided . . HOM Link to ClinVar
681217 658679 Benign not_provided . . HOM Link to ClinVar
256004 250456 Benign not_specified
not_provided		 0.72451 0.64337 HOM Link to ClinVar
681216 658758 Benign not_provided . . HOM Link to ClinVar
681215 658759 Benign not_provided . . HOM Link to ClinVar
681212 658593 Benign not_provided . . HOM Link to ClinVar
672286 658699 Benign not_provided . . HOM Link to ClinVar
670987 658599 Benign not_provided . . HOM Link to ClinVar
670986 658711 Benign not_provided . . HOM Link to ClinVar
672285 658603 Benign not_provided . . HOM Link to ClinVar
672284 658606 Benign not_provided . . HOM Link to ClinVar
213077 209545 Benign not_specified . . HOM Link to ClinVar
672283 658784 Benign not_provided . . HOM Link to ClinVar
255997 250461 Benign not_specified
not_provided		 0.95929 0.94249 HOM Link to ClinVar
670984 658712 Benign not_provided . . HOM Link to ClinVar
679169 658710 Benign not_provided . . HOM Link to ClinVar
681211 658713 Benign not_provided . . HOM Link to ClinVar
136939 140642 Benign/Likely_benign Ehlers-Danlos_syndrome,_type_7A
Ehlers-Danlos_syndrome_classic_type_2
Ehlers-Danlos_syndrome,_classic_type
not_specified
Cardiovascular_phenotype
not_provided		 0.03241 0.01158 HET Link to ClinVar
672282 658720 Benign not_provided . . HOM Link to ClinVar
681210 658608 Benign not_provided . . HOM Link to ClinVar
136968 140671 Benign/Likely_benign Ehlers-Danlos_syndrome_classic_type_2
Ehlers-Danlos_syndrome,_classic_type
not_specified
not_provided		 0.00638 0.00439 HET Link to ClinVar
439540 433445 Benign Ehlers-Danlos_syndrome_classic_type_2
not_provided		 . 0.78854 HOM Link to ClinVar
439539 433444 Benign Ehlers-Danlos_syndrome_classic_type_2 0.9322 0.88858 HOM Link to ClinVar
679168 658741 Benign not_provided . . HOM Link to ClinVar
260422 250469 Benign Hereditary_hemochromatosis
not_specified
not_provided		 0.61425 0.55012 HOM Link to ClinVar
774411 697214 Likely_benign not_provided . . HET Link to ClinVar
369322 353551 Likely_benign Lynch_syndrome . 0.08806 HET Link to ClinVar
333199 284296 Likely_benign Lynch_syndrome . 0.21925 HET Link to ClinVar
333223 286659 Benign Myostatin-related_muscle_hypertrophy . 0.03135 HET Link to ClinVar
379986 366282 Benign not_specified
not_provided		 0.73928 0.68431 HOM Link to ClinVar
379985 366807 Benign not_specified
not_provided		 0.52787 0.43171 HET Link to ClinVar
379984 366040 Benign not_specified 0.68431 0.54872 HET Link to ClinVar
403495 389452 Benign not_specified 0.64154 0.49641 HOM Link to ClinVar
402748 389457 Benign not_specified 0.98935 0.96126 HOM Link to ClinVar
402753 389459 Benign not_specified 0.58933 0.48003 HET Link to ClinVar
402755 389470 Benign not_specified 0.63121 0.54074 HET Link to ClinVar
402756 389460 Benign not_specified 0.82819 0.65375 HOM Link to ClinVar
402757 389467 Benign not_specified 0.733 0.77177 HET Link to ClinVar
671556 658840 Benign not_provided . . HET Link to ClinVar
129241 134687 Benign not_specified
Spastic_paraplegia,_autosomal_dominant
not_provided		 0.64901 0.65455 HET Link to ClinVar
129243 134689 Benign not_specified
Spastic_paraplegia,_autosomal_dominant
not_provided		 0.16426 0.15815 HET Link to ClinVar
137567 141270 Benign not_specified
Spastic_paraplegia,_autosomal_dominant		 . 0.23323 HET Link to ClinVar
587756 578967 Benign History_of_neurodevelopmental_disorder 0.98197 0.93091 HOM Link to ClinVar
333418 284490 Benign Autoimmune_lymphoproliferative_syndrome
not_specified		 0.4524 0.39417 HOM Link to ClinVar
333442 286508 Benign Autoimmune_lymphoproliferative_syndrome
not_specified		 0.40988 0.32907 HOM Link to ClinVar
333471 286531 Benign Autoimmune_lymphoproliferative_syndrome . . HET Link to ClinVar
333476 284569 Uncertain_significance Autoimmune_lymphoproliferative_syndrome . . HOM Link to ClinVar
7763 22802 protective Lung_cancer,_protection_against . 0.38898 HOM Link to ClinVar
402492 389468 Benign not_specified 0.6673 0.64637 HET Link to ClinVar
333505 284615 Benign Caspase-8_deficiency 0.102 0.17532 HET Link to ClinVar
333513 284626 Benign Caspase-8_deficiency . 0.55431 HET Link to ClinVar
333520 283943 Benign Caspase-8_deficiency . 0.17772 HET Link to ClinVar
333526 284641 Benign Caspase-8_deficiency . . HET Link to ClinVar
257314 250479 Benign not_specified
not_provided		 . 0.36182 HET Link to ClinVar
667554 658841 Benign not_provided . . HET Link to ClinVar
257317 250486 Benign not_specified
not_provided		 0.65658 0.58506 HET Link to ClinVar
333574 283960 Likely_benign ALS2-Related_Disorders
Amyotrophic_Lateral_Sclerosis,_Recessive		 . 0.10244 HET Link to ClinVar
333577 287069 Likely_benign ALS2-Related_Disorders
Amyotrophic_Lateral_Sclerosis,_Recessive		 . 0.08966 HET Link to ClinVar
261379 250492 Benign not_specified 0.92363 0.90595 HOM Link to ClinVar
261377 250494 Benign ALS2-Related_Disorders
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
not_provided		 0.92321 0.90535 HOM Link to ClinVar
261375 250496 Benign not_specified 0.83048 0.80411 HET Link to ClinVar
261373 250498 Likely_benign not_specified . 0.00399 HET Link to ClinVar
261369 250501 Benign/Likely_benign ALS2-Related_Disorders
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive		 0.09785 0.11502 HET Link to ClinVar
261368 250502 Benign ALS2-Related_Disorders
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
not_provided		 0.52717 0.3724 HET Link to ClinVar
261364 250505 Benign ALS2-Related_Disorders
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
not_provided		 0.9106 0.89657 HOM Link to ClinVar
678684 658846 Benign not_provided . . HET Link to ClinVar
676056 658748 Benign not_provided . . HET Link to ClinVar
136528 140231 Benign/Likely_benign Primary_pulmonary_hypertension
not_specified		 0.02516 0.00998 HET Link to ClinVar
333682 287174 Benign Primary_pulmonary_hypertension . . HET Link to ClinVar
333715 286792 Benign Primary_pulmonary_hypertension . 0.55431 HET Link to ClinVar
16921 31960 Benign Diabetes_mellitus,_insulin-dependent,_susceptibility_to
Hashimoto_thyroiditis,_susceptibility_to
Systemic_lupus_erythematosus,_susceptibility_to
Thyroid-associated_orbitopathy,_susceptibility_to
Celiac_disease_3
not_specified		 . 0.42732 HOM Link to ClinVar
333771 286845 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.07947 HET Link to ClinVar
333774 284912 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.47724 HET Link to ClinVar
683068 658032 Benign not_provided . . HET Link to ClinVar
683049 658036 Benign not_provided . . HET Link to ClinVar
669517 658163 Benign not_provided . . HET Link to ClinVar
683048 658164 Benign not_provided . . HET Link to ClinVar
683046 658167 Benign not_provided . . HET Link to ClinVar
683045 658147 Benign not_provided . . HET Link to ClinVar
683042 658169 Benign not_provided . . HET Link to ClinVar
669516 658171 Benign not_provided . . HET Link to ClinVar
683041 658041 Benign not_provided . . HET Link to ClinVar
129695 135141 Benign/Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.31052 0.3099 HET Link to ClinVar
682758 658173 Benign not_provided . . HET Link to ClinVar
669514 658174 Benign not_provided . . HET Link to ClinVar
129696 135142 Benign/Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 . 0.46226 HET Link to ClinVar
333790 284926 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.38019 HET Link to ClinVar
333794 284936 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . 0.11042 HET Link to ClinVar
683905 658751 Benign not_provided . . HOM Link to ClinVar
333811 284961 Uncertain_significance Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . 0.01358 HET Link to ClinVar
333825 286901 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . 0.1853 HET Link to ClinVar
260059 250511 Benign Cataract
not_specified		 0.87924 0.8117 HOM Link to ClinVar
260061 250512 Benign Cataract
not_specified
not_provided		 . 0.77676 HOM Link to ClinVar
260062 250514 Benign Cataract
not_specified
not_provided		 0.59688 0.64477 HOM Link to ClinVar
677166 655409 Benign not_provided . . HOM Link to ClinVar
677165 655410 Benign not_provided . . HOM Link to ClinVar
333897 284315 Benign Fleck_corneal_dystrophy 0.99769 0.99181 HOM Link to ClinVar
333898 285012 Benign Fleck_corneal_dystrophy 0.95976 0.91154 HOM Link to ClinVar
333905 287364 Benign Fleck_corneal_dystrophy . 0.91174 HOM Link to ClinVar
333909 287006 Benign Fleck_corneal_dystrophy 0.95972 0.91154 HOM Link to ClinVar
333910 287007 Benign Fleck_corneal_dystrophy 0.96006 0.91214 HOM Link to ClinVar
333917 284327 Benign Fleck_corneal_dystrophy 0.95961 0.91154 HOM Link to ClinVar
333918 284328 Benign Fleck_corneal_dystrophy 0.99847 0.99601 HOM Link to ClinVar
333928 285022 Benign Fleck_corneal_dystrophy 0.95955 0.91094 HOM Link to ClinVar
333930 284331 Benign Fleck_corneal_dystrophy 0.80986 0.71605 HOM Link to ClinVar
333932 284336 Benign Fleck_corneal_dystrophy 0.9596 0.91114 HOM Link to ClinVar
333934 284342 Benign Fleck_corneal_dystrophy 0.95961 0.91114 HOM Link to ClinVar
333941 287029 Benign Fleck_corneal_dystrophy . 0.91114 HOM Link to ClinVar
333942 287467 Benign Fleck_corneal_dystrophy . 0.91114 HOM Link to ClinVar
1620 16659 Benign Very_long_chain_acyl-CoA_dehydrogenase_deficiency
not_specified
not_provided		 0.30109 0.21106 HET Link to ClinVar
333997 287296 Benign Very_long_chain_acyl-CoA_dehydrogenase_deficiency 0.30182 0.21166 HET Link to ClinVar
671408 658854 Benign not_provided . . HET Link to ClinVar
137026 140729 Benign Congenital_hyperammonemia,_type_I
not_specified		 0.50657 0.48083 HET Link to ClinVar
203647 199986 Benign Congenital_hyperammonemia,_type_I
not_specified
not_provided		 . . HET Link to ClinVar
683611 658856 Benign not_provided . . HET Link to ClinVar
683612 658858 Benign not_provided . . HET Link to ClinVar
281476 265713 Benign not_specified
not_provided		 . . HET Link to ClinVar
128851 134299 Benign Congenital_hyperammonemia,_type_I
not_specified
not_provided		 . 0.64916 HET Link to ClinVar
258479 250536 Benign not_specified
not_provided		 0.41857 0.42272 HET Link to ClinVar
683616 658760 Benign not_provided . . HET Link to ClinVar
258483 250540 Benign/Likely_benign Congenital_hyperammonemia,_type_I
not_specified		 . . HET Link to ClinVar
128852 134300 Benign Congenital_hyperammonemia,_type_I
not_specified		 0.30339 0.28854 HET Link to ClinVar
203646 199993 Benign/Likely_benign Congenital_hyperammonemia,_type_I
not_specified		 . 0.01937 HET Link to ClinVar
334042 287441 Benign Congenital_hyperammonemia,_type_I . 0.23622 HET Link to ClinVar
334045 284568 Benign Congenital_hyperammonemia,_type_I . 0.26897 HET Link to ClinVar
334046 285250 Benign Congenital_hyperammonemia,_type_I . 0.24581 HET Link to ClinVar
769264 777230 Benign not_provided . . HET Link to ClinVar
801875 790173 Benign Familial_cancer_of_breast . . . Link to ClinVar
256214 250542 Benign/Likely_benign Neoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
not_specified		 0.3614 0.35224 HET Link to ClinVar
215471 212134 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 . . HET Link to ClinVar
256213 250543 Benign Hereditary_cancer-predisposing_syndrome
not_specified		 0.38181 0.36522 HET Link to ClinVar
142769 152483 Benign/Likely_benign Neoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 0.5487 0.45927 HOM Link to ClinVar
334196 285273 Conflicting_interpretations_of_pathogenicity Neoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome		 . . HET Link to ClinVar
183698 181856 Benign/Likely_benign Neoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 0.43768 0.33127 HET Link to ClinVar
334200 284585 Likely_benign Neoplasm_of_the_breast 0.68951 0.74501 HET Link to ClinVar
334204 287669 Benign Congenital_ichthyosiform_erythroderma . . HOM Link to ClinVar
334208 287676 Benign Congenital_ichthyosiform_erythroderma . 0.59385 HOM Link to ClinVar
334218 287697 Benign Congenital_ichthyosiform_erythroderma 0.43135 0.39816 HOM Link to ClinVar
262833 250544 Benign not_specified 0.46968 0.52336 HOM Link to ClinVar
262831 250546 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.40511 0.35004 HOM Link to ClinVar
262828 250549 Benign not_specified 0.99968 0.999 HOM Link to ClinVar
262824 250553 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.9994 0.9984 HOM Link to ClinVar
801893 790193 Benign AICAR_transformylase/IMP_cyclohydrolase_deficiency . . HOM Link to ClinVar
225999 227829 drug_response methotrexate_response_-_Efficacy 0.3966 0.28554 HOM Link to ClinVar
788697 708016 Benign not_provided . . HET Link to ClinVar
801895 790195 Benign Spondylometaphyseal_dysplasia . . HOM Link to ClinVar
334280 284640 Benign Schimke_immunoosseous_dysplasia . 0.20787 HET Link to ClinVar
260662 250572 Benign Paroxysmal_nonkinesigenic_dyskinesia_1
not_specified
not_provided		 0.04387 0.05132 HET Link to ClinVar
334332 284672 Benign Paroxysmal_nonkinesigenic_dyskinesia_1 . 0.27436 HET Link to ClinVar
334342 287832 Benign Paroxysmal_nonkinesigenic_dyskinesia_1 . 0.47664 HET Link to ClinVar
334345 287836 Benign Paroxysmal_nonkinesigenic_dyskinesia_1 . 0.46805 HET Link to ClinVar
769265 697320 Benign not_provided . . HET Link to ClinVar
669695 658817 Benign not_provided . . HOM Link to ClinVar
334362 287853 Benign Cholestanol_storage_disease . . HOM Link to ClinVar
281220 265457 Benign/Likely_benign Brachydactyly
not_specified
not_provided		 0.00411 0.0028 HET Link to ClinVar
780100 708050 Benign not_provided . . HET Link to ClinVar
780101 708052 Benign not_provided . . HET Link to ClinVar
680749 658820 Benign not_provided . . HET Link to ClinVar
137118 140821 Benign not_specified . 0.26977 HET Link to ClinVar
680750 658678 Benign not_provided . . HET Link to ClinVar
674022 658898 Benign not_provided . . HET Link to ClinVar
137119 140822 Benign not_specified 0.14963 0.15535 HET Link to ClinVar
671677 658792 Benign not_provided . . HET Link to ClinVar
680751 658793 Benign not_provided . . HET Link to ClinVar
672013 658797 Benign not_provided . . HOM Link to ClinVar
36002 44666 Benign Cardiomyopathy
Scapuloperoneal_weakness
Myofibrillar_myopathy_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
not_provided		 0.96521 0.88618 HOM Link to ClinVar
36003 44667 Benign Cardiomyopathy
Scapuloperoneal_weakness
Myofibrillar_myopathy_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
not_provided		 . 0.86601 HOM Link to ClinVar
258491 250577 Benign not_specified
not_provided		 0.61694 0.52935 HOM Link to ClinVar
369331 353560 Benign Scapuloperoneal_weakness
Myofibrillar_myopathy_1
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant		 . 0.52836 HOM Link to ClinVar
194972 192134 Benign Three_M_syndrome
not_specified		 0.46681 0.38758 HOM Link to ClinVar
288014 272251 Benign Three_M_syndrome_2
Three_M_syndrome
not_specified		 0.46833 0.3766 HOM Link to ClinVar
334466 287705 Benign Three_M_syndrome 0.99608 0.98522 HOM Link to ClinVar
334469 287707 Benign Three_M_syndrome 0.98586 0.96106 HOM Link to ClinVar
334470 284807 Benign Three_M_syndrome . 0.22923 HOM Link to ClinVar
334475 284811 Benign Three_M_syndrome 0.99008 0.96366 HOM Link to ClinVar
334493 287738 Uncertain_significance Three_M_syndrome 0.01013 0.00399 HET Link to ClinVar
334496 288042 Benign Three_M_syndrome . 0.41913 HOM Link to ClinVar
334503 287767 Benign Three_M_syndrome 0.20281 0.16414 HOM Link to ClinVar
334508 287769 Benign Three_M_syndrome 0.86545 0.79273 HOM Link to ClinVar
193382 190546 Benign Three_M_syndrome
not_specified		 0.86442 0.78335 HOM Link to ClinVar
290129 274366 Benign Three_M_syndrome
not_specified		 0.44477 0.35883 HET Link to ClinVar
195432 192593 Benign Craniofacial_deafness_hand_syndrome
Waardenburg_syndrome
not_specified		 0.88716 0.90435 HOM Link to ClinVar
682627 658921 Benign not_provided . . HET Link to ClinVar
682628 658799 Benign not_provided . . HET Link to ClinVar
669505 658844 Benign not_provided . . HET Link to ClinVar
682635 658926 Benign not_provided . . HET Link to ClinVar
334570 285544 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.99561 HET Link to ClinVar
334588 284901 Likely_benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.0012 HET Link to ClinVar
683328 658689 Benign not_provided . . HET Link to ClinVar
682798 658805 Benign not_provided . . HET Link to ClinVar
254978 250620 Benign Alport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified		 . 0.23023 HET Link to ClinVar
254996 250625 Benign Alport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified
not_provided		 0.83022 0.79673 HOM Link to ClinVar
255001 250626 Benign Alport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified
not_provided		 0.8304 0.79633 HOM Link to ClinVar
255009 250631 Benign not_specified 0.02745 0.01418 HET Link to ClinVar
255010 250632 Benign/Likely_benign Alport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified		 0.16675 0.11582 HET Link to ClinVar
254985 250642 Benign Alport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified
not_provided		 0.46945 0.39996 HOM Link to ClinVar
585521 576665 Benign not_provided . 1 HOM Link to ClinVar
334792 285112 Benign Alport_syndrome . 0.72903 HOM Link to ClinVar
334799 288476 Benign Alport_syndrome . 0.84764 HOM Link to ClinVar
334808 288077 Benign Alport_syndrome . 0.26897 HOM Link to ClinVar
334809 288078 Benign Alport_syndrome . 0.91613 HOM Link to ClinVar
334817 288490 Benign Alport_syndrome . 0.91613 HOM Link to ClinVar
334821 285135 Benign Alport_syndrome . 1 HOM Link to ClinVar
684244 658703 Benign not_provided . . HOM Link to ClinVar
684246 658849 Benign not_provided . . HOM Link to ClinVar
684251 658845 Benign not_provided . . HOM Link to ClinVar
684252 658716 Benign not_provided . . HOM Link to ClinVar
334834 285141 Benign Thiamine_Metabolism_Dysfunction_Syndrome . 0.99701 HOM Link to ClinVar
215155 210790 Benign Biotin-thiamine-responsive_basal_ganglia_disease
not_specified
Thiamine_Metabolism_Dysfunction_Syndrome
not_provided		 . . HOM Link to ClinVar
683857 658746 Benign not_provided . . HOM Link to ClinVar
369332 353561 Benign Thiamine_Metabolism_Dysfunction_Syndrome . 0.53554 HOM Link to ClinVar
334896 288165 Benign/Likely_benign Hepatic_venoocclusive_disease_with_immunodeficiency
not_specified		 0.10023 0.07887 HET Link to ClinVar
334898 288166 Benign/Likely_benign Hepatic_venoocclusive_disease_with_immunodeficiency
not_specified		 . 0.06809 HET Link to ClinVar
334902 288174 Benign Hepatic_venoocclusive_disease_with_immunodeficiency
not_specified		 0.42564 0.32488 HET Link to ClinVar
5539 20578 Benign Mycobacterium_tuberculosis,_susceptibility_to
not_specified		 . 0.90395 HOM Link to ClinVar
334909 288178 Benign Hepatic_venoocclusive_disease_with_immunodeficiency
not_specified		 0.70872 0.80252 HET Link to ClinVar
334911 288179 Benign Hepatic_venoocclusive_disease_with_immunodeficiency
not_specified		 0.21078 0.15915 HET Link to ClinVar
334912 285894 Benign Hepatic_venoocclusive_disease_with_immunodeficiency
not_specified		 0.23788 0.22883 HET Link to ClinVar
403465 389491 Benign not_specified 0.90907 0.95108 HOM Link to ClinVar
767868 697393 Benign not_provided . . HOM Link to ClinVar
128957 134404 Benign not_specified 0.9832 0.96266 HOM Link to ClinVar
677180 655432 Benign not_provided . . HET Link to ClinVar
677181 655433 Benign not_provided . . HET Link to ClinVar
677664 658970 Benign not_provided . . HET Link to ClinVar
801911 790211 Benign Multiple_pterygium_syndrome_Escobar_type . . HOM Link to ClinVar
194064 191227 Benign/Likely_benign Multiple_pterygium_syndrome_Escobar_type
not_specified		 0.18694 0.15196 HET Link to ClinVar
335021 288732 Likely_benign Multiple_pterygium_syndrome_Escobar_type . 0.15735 HET Link to ClinVar
335023 288738 Likely_benign Multiple_pterygium_syndrome_Escobar_type . 0.15515 HET Link to ClinVar
335026 285970 Likely_benign Multiple_pterygium_syndrome_Escobar_type . . HET Link to ClinVar
335029 288739 Uncertain_significance Leber_congenital_amaurosis . 0.00499 HET Link to ClinVar
518337 508778 Benign Parkinson_disease_11 0.63513 0.60523 HOM Link to ClinVar
518340 508781 Benign Parkinson_disease_11 0.64495 0.63998 HOM Link to ClinVar
1130 16169 Benign Inflammatory_bowel_disease_10,_susceptibility_to
not_specified		 0.4578 0.39597 HET Link to ClinVar
167635 178039 Benign not_specified 0.4406 0.36681 HET Link to ClinVar
335069 288347 Benign/Likely_benign Oguchi's_disease
Retinitis_Pigmentosa,_Recessive
not_provided		 0.10147 0.10623 HET Link to ClinVar
194606 191769 Benign Oguchi's_disease
not_specified
Retinitis_Pigmentosa,_Recessive		 0.39092 0.30292 HET Link to ClinVar
225993 227745 drug_response SN-38_response_-_Other . . HET Link to ClinVar
440384 434018 Uncertain_significance not_specified . 0.29772 HET Link to ClinVar
440385 434019 Benign not_specified . 0.29732 HET Link to ClinVar
440386 434020 Benign not_specified 0.58805 0.57628 HET Link to ClinVar
440389 434023 Benign not_specified 0.35129 0.29772 HET Link to ClinVar
440378 434012 Benign not_specified 0.3901 0.36222 HET Link to ClinVar
440379 434013 Benign not_specified 0.35185 0.34265 HET Link to ClinVar
440381 434015 Benign not_specified 0.31333 0.27756 HET Link to ClinVar
440380 434014 Benign not_specified 0.34567 0.32468 HET Link to ClinVar
12288 27327 Benign Gilbert's_syndrome
Gilbert_syndrome,_susceptibility_to
not_specified		 . 0.58806 HET Link to ClinVar
810732 798981 Likely_benign Gilbert's_syndrome . . HET Link to ClinVar
226029 227747 drug_response atazanavir_response_-_Other . 0.35403 HET Link to ClinVar
12289 27328 Benign,_association Gilbert's_syndrome
Bilirubin,_serum_level_of,_quantitative_trait_locus_1		 . 0.34764 HET Link to ClinVar
810733 798982 Benign Gilbert's_syndrome . . HET Link to ClinVar
335084 285391 Benign Crigler-Najjar_syndrome
Gilbert's_syndrome
Lucey-Driscoll_syndrome		 . 0.7524 HOM Link to ClinVar
335085 288359 Benign Crigler-Najjar_syndrome
Gilbert's_syndrome
Lucey-Driscoll_syndrome		 . 0.82109 HOM Link to ClinVar
335086 288783 Benign Crigler-Najjar_syndrome
Gilbert's_syndrome
Lucey-Driscoll_syndrome		 . 0.74501 HOM Link to ClinVar
779327 708124 Benign not_provided . . HET Link to ClinVar
335089 285394 Benign Collagen_VI-related_myopathy . 0.6879 HET Link to ClinVar
335091 286060 Benign Collagen_VI-related_myopathy . 0.15555 HET Link to ClinVar
94900 100800 Benign Collagen_VI-related_myopathy
not_specified		 . 0.20986 HET Link to ClinVar
95022 100922 Benign not_specified
not_provided		 0.2908 0.22963 HET Link to ClinVar
95018 100918 Benign Collagen_VI-related_myopathy
not_specified		 0.3884 0.34625 HOM Link to ClinVar
95014 100914 Benign Collagen_VI-related_myopathy
not_specified		 0.77288 0.79233 HOM Link to ClinVar
679240 658901 Benign not_provided . . HOM Link to ClinVar
95008 100908 Benign Collagen_VI-related_myopathy
not_specified		 0.63862 0.63658 HOM Link to ClinVar
94998 100898 Benign Collagen_VI-related_myopathy
not_specified		 0.39875 0.34245 HOM Link to ClinVar
94968 100868 Benign Bethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified		 0.54892 0.55431 HOM Link to ClinVar
679237 658999 Benign not_provided . . HOM Link to ClinVar
668109 658790 Benign not_provided . . HET Link to ClinVar
681264 659005 Benign not_provided . . HET Link to ClinVar
679231 658801 Benign not_provided . . HET Link to ClinVar
679230 658939 Benign not_provided . . HET Link to ClinVar
679229 658806 Benign not_provided . . HOM Link to ClinVar
94962 100862 Benign Bethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified		 0.21289 0.33087 HET Link to ClinVar
668108 659007 Benign not_provided . . HET Link to ClinVar
680754 658818 Benign not_provided . . HET Link to ClinVar
668107 658941 Benign not_provided . . HET Link to ClinVar
94950 100850 Benign Collagen_VI-related_myopathy
not_specified		 . . HET Link to ClinVar
680753 659010 Benign not_provided . . HET Link to ClinVar
94936 100836 Benign Collagen_VI-related_myopathy
not_specified		 . 0.26558 HET Link to ClinVar
94933 100833 Benign Collagen_VI-related_myopathy
not_specified		 0.28888 0.38838 HET Link to ClinVar
668106 658832 Benign not_provided . . HET Link to ClinVar
94921 100821 Benign Collagen_VI-related_myopathy
not_specified		 0.23271 0.21586 HET Link to ClinVar
679227 658833 Benign not_provided . . HET Link to ClinVar
380807 367109 Benign not_specified . 0.27017 HET Link to ClinVar
801915 790215 Benign Brachydactyly-Mental_Retardation_syndrome . . HET Link to ClinVar
335152 285460 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.59045 HOM Link to ClinVar
335156 286135 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.25579 HOM Link to ClinVar
335174 288875 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.50839 HOM Link to ClinVar
335183 286170 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.28674 HOM Link to ClinVar
335193 288898 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.2494 HOM Link to ClinVar
214702 210797 Benign/Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 . . HOM Link to ClinVar
669885 659026 Benign not_provided . . HOM Link to ClinVar
129686 135132 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.40644 0.35623 HOM Link to ClinVar
669507 658965 Benign not_provided . . HOM Link to ClinVar
669869 658960 Benign not_provided . . HOM Link to ClinVar
129685 135131 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.66626 0.70248 HOM Link to ClinVar
669506 659031 Benign not_provided . . HOM Link to ClinVar
767876 697464 Benign not_provided . . HET Link to ClinVar
5093 20132 risk_factor Diabetes_mellitus_type_2 . 0.1855 HET Link to ClinVar
335233 286218 Likely_benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Intellectual_Disability,_Dominant
Spastic_Paraplegia,_Recessive		 . 0.38878 HET Link to ClinVar
335240 288531 Likely_benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Intellectual_Disability,_Dominant
Spastic_Paraplegia,_Recessive		 . 0.27236 HET Link to ClinVar
670495 659052 Benign not_provided . . HET Link to ClinVar
682847 658972 Benign not_provided . . HET Link to ClinVar
671426 658981 Benign not_provided . . HET Link to ClinVar
670535 659071 Benign not_provided . . HOM Link to ClinVar
682843 658996 Benign not_provided . . HET Link to ClinVar
672932 658876 Benign not_provided . . HET Link to ClinVar
129389 134835 Benign/Likely_benign Hereditary_sensory_and_autonomic_neuropathy_type_II
History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Dominant
Spastic_Paraplegia,_Recessive		 . 0.05032 HET Link to ClinVar
672931 659075 Benign not_provided . . HET Link to ClinVar
672930 659079 Benign not_provided . . HET Link to ClinVar
284274 268511 Benign not_specified . . HOM Link to ClinVar
672929 658887 Benign not_provided . . HET Link to ClinVar
672928 658992 Benign not_provided . . HET Link to ClinVar
671033 659008 Benign not_provided . . HET Link to ClinVar
683895 659084 Benign not_provided . . HET Link to ClinVar
682831 659017 Benign not_provided . . HET Link to ClinVar
129396 134842 Benign/Likely_benign Hereditary_sensory_and_autonomic_neuropathy_type_II
History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Dominant
Spastic_Paraplegia,_Recessive		 0.38623 0.51358 HET Link to ClinVar
672669 659090 Benign not_provided . . HOM Link to ClinVar
674082 659064 Likely_benign not_provided . . HOM Link to ClinVar
673387 658923 Benign not_provided . . HET Link to ClinVar
204033 200480 Uncertain_significance Primary_hyperoxaluria,_type_I . . HOM Link to ClinVar
204041 200508 Uncertain_significance Primary_hyperoxaluria,_type_I . 0.23982 HOM Link to ClinVar
204054 200569 Uncertain_significance Primary_hyperoxaluria,_type_I 0.48223 0.34325 HET Link to ClinVar
204057 200584 Uncertain_significance Primary_hyperoxaluria,_type_I . 0.2522 HOM Link to ClinVar
204063 200610 Benign Primary_hyperoxaluria
Primary_hyperoxaluria,_type_I		 0.3572 0.2522 HOM Link to ClinVar
204064 200611 Benign Primary_hyperoxaluria
Primary_hyperoxaluria,_type_I		 . 0.71985 HOM Link to ClinVar
335307 285583 Benign D-2-hydroxyglutaric_aciduria . 0.72444 HET Link to ClinVar
158414 168055 Benign/Likely_benign D-2-hydroxyglutaric_aciduria
not_specified
not_provided		 . 0.22644 HET Link to ClinVar
158415 168057 Likely_benign not_specified 0.68432 0.74241 HET Link to ClinVar
158417 168059 Likely_benign not_specified . 0.5647 HOM Link to ClinVar
158421 168061 Likely_benign not_specified 0.25155 0.23702 HET Link to ClinVar
158423 168063 Benign/Likely_benign D-2-hydroxyglutaric_aciduria
not_specified
not_provided		 0.48836 0.5611 HOM Link to ClinVar
801922 790222 Benign D-2-hydroxyglutaric_aciduria_1 . . HOM Link to ClinVar
158404 168064 Benign/Likely_benign D-2-hydroxyglutaric_aciduria
not_specified
not_provided		 0.24886 0.22364 HET Link to ClinVar
158411 168071 Likely_benign not_specified 0.52943 0.62999 HOM Link to ClinVar
335332 289020 Likely_benign D-2-hydroxyglutaric_aciduria . 0.09844 HET Link to ClinVar
335338 285603 Benign D-2-hydroxyglutaric_aciduria . 0.53295 HET Link to ClinVar
335349 288640 Benign D-2-hydroxyglutaric_aciduria . 0.23263 HET Link to ClinVar
767883 777335 Benign not_provided . . HET Link to ClinVar
402550 389529 Benign not_specified 0.44493 0.48343 HET Link to ClinVar
669583 659840 Benign not_provided . . HET Link to ClinVar
403570 389592 Benign Sideroblastic_anemia_with_B-cell_immunodeficiency,_periodic_fevers,_and_developmental_delay
not_specified		 0.97223 0.90455 HOM Link to ClinVar
676433 659841 Benign not_provided . . HET Link to ClinVar
684282 659968 Benign not_provided . . HOM Link to ClinVar
669584 659744 Benign not_provided . . HET Link to ClinVar
671437 659756 Benign not_provided . . HET Link to ClinVar
684283 659849 Benign not_provided . . HET Link to ClinVar
671438 659670 Benign not_provided . . HET Link to ClinVar
684284 659671 Benign not_provided . . HOM Link to ClinVar
684285 659970 Benign not_provided . . HOM Link to ClinVar
671605 659853 Benign not_provided . . HET Link to ClinVar
684287 659684 Benign not_provided . . HOM Link to ClinVar
669585 659974 Benign not_provided . . HET Link to ClinVar
380145 367091 Benign not_specified 0.79864 0.73902 HET Link to ClinVar
380146 367093 Benign not_specified 0.543 0.40076 HET Link to ClinVar
128855 134303 Benign not_specified 0.96728 0.88379 HOM Link to ClinVar
345295 294907 Benign Multiple_sulfatase_deficiency . 0.48163 HOM Link to ClinVar
345303 291214 Benign Multiple_sulfatase_deficiency . 0.88019 HOM Link to ClinVar
345304 294486 Benign Multiple_sulfatase_deficiency . . HET Link to ClinVar
345308 294930 Benign Multiple_sulfatase_deficiency . 0.42812 HET Link to ClinVar
345310 291220 Benign Multiple_sulfatase_deficiency . 0.29553 HET Link to ClinVar
345312 291221 Benign Multiple_sulfatase_deficiency . 0.70447 HET Link to ClinVar
558943 549550 Benign not_specified
not_provided		 . . HET Link to ClinVar
96559 102452 Benign Multiple_sulfatase_deficiency
not_specified
not_provided		 0.64405 0.76038 HET Link to ClinVar
684132 660029 Benign not_provided . . HET Link to ClinVar
684125 659939 Benign not_provided . . HOM Link to ClinVar
684119 659879 Benign not_provided . . HOM Link to ClinVar
263009 251142 Benign not_specified
not_provided		 0.96174 0.88678 HOM Link to ClinVar
129298 134744 Benign Spinocerebellar_ataxia_29
not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.68323 0.61402 HET Link to ClinVar
804939 793026 Benign not_provided . . HOM Link to ClinVar
129301 134747 Benign not_specified
Spinocerebellar_Ataxia,_Dominant		 0.32942 0.24561 HET Link to ClinVar
129302 134748 Benign not_specified
Spinocerebellar_Ataxia,_Dominant		 0.28681 0.26458 HET Link to ClinVar
129303 134749 Benign not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.82442 0.79094 HET Link to ClinVar
129304 134750 Benign not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.60545 0.58746 HET Link to ClinVar
345905 295090 Likely_benign Spinocerebellar_Ataxia,_Dominant . 0.01018 HET Link to ClinVar
345929 295184 Benign Spinocerebellar_Ataxia,_Dominant . 0.26877 HOM Link to ClinVar
683301 660042 Benign not_provided . . HET Link to ClinVar
31746 40406 not_provided not_provided . 0.22404 HET Link to ClinVar
31709 40369 Benign/Likely_benign Hypertrophic_cardiomyopathy
Long_QT_syndrome
Romano-Ward_syndrome
Rippling_muscle_disease_2
Distal_myopathy,_Tateyama_type
Caveolinopathy
not_specified
Cardiovascular_phenotype
Limb-Girdle_Muscular_Dystrophy,_Dominant
not_provided		 0.30104 0.37101 HET Link to ClinVar
31706 40366 Likely_benign Hypertrophic_cardiomyopathy
Long_QT_syndrome
Romano-Ward_syndrome
Caveolinopathy
Limb-Girdle_Muscular_Dystrophy,_Dominant
not_provided		 . 0.34824 HET Link to ClinVar
31720 40380 Likely_benign Hypertrophic_cardiomyopathy
Long_QT_syndrome
Romano-Ward_syndrome
Caveolinopathy
Limb-Girdle_Muscular_Dystrophy,_Dominant
not_provided		 . 0.27157 HET Link to ClinVar
31707 40367 Likely_benign Hypertrophic_cardiomyopathy
Long_QT_syndrome
Romano-Ward_syndrome
Caveolinopathy
Limb-Girdle_Muscular_Dystrophy,_Dominant
not_provided		 . 0.32268 HET Link to ClinVar
31727 40387 not_provided not_provided . 0.83666 HOM Link to ClinVar
342394 291624 Benign Fanconi_anemia . 0.20607 HOM Link to ClinVar
257063 250849 Benign not_specified 0.32813 0.21466 HOM Link to ClinVar
342397 291569 Benign Von_Hippel-Lindau_syndrome . 0.54333 HOM Link to ClinVar
342407 287967 Benign Von_Hippel-Lindau_syndrome . 0.55711 HOM Link to ClinVar
342424 287980 Benign Von_Hippel-Lindau_syndrome . 0.58467 HOM Link to ClinVar
342425 291585 Benign Von_Hippel-Lindau_syndrome . 0.55671 HOM Link to ClinVar
342451 287987 Benign Von_Hippel-Lindau_syndrome . 0.98802 HOM Link to ClinVar
342459 291602 Benign Von_Hippel-Lindau_syndrome . 0.54892 HOM Link to ClinVar
342491 288023 Benign Von_Hippel-Lindau_syndrome . 0.88998 HOM Link to ClinVar
342512 288779 Benign Von_Hippel-Lindau_syndrome . 0.97105 HOM Link to ClinVar
5062 20101 Pathogenic,_risk_factor Metabolic_syndrome,_susceptibility_to
Obesity,_age_at_onset_of		 0.08557 0.08327 HET Link to ClinVar
343059 292416 Benign Pontoneocerebellar_hypoplasia . 0.45447 HOM Link to ClinVar
667568 659464 Benign not_provided . . HOM Link to ClinVar
670254 659478 Benign not_provided . . HET Link to ClinVar
670802 659482 Benign not_provided . . HET Link to ClinVar
343086 292284 Benign Pontoneocerebellar_hypoplasia . 0.42193 HET Link to ClinVar
343092 289310 Uncertain_significance Noonan_syndrome
Noonan_syndrome_with_multiple_lentigines		 . . . Link to ClinVar
40624 49094 Benign not_specified 0.35043 0.36462 HET Link to ClinVar
561371 552548 Benign not_provided . 0.17832 HET Link to ClinVar
561370 552550 Benign not_provided . 0.34465 HET Link to ClinVar
561369 552551 Benign not_provided . 0.18051 HET Link to ClinVar
561823 552553 Benign not_provided . 0.53854 HET Link to ClinVar
561368 552556 Benign not_provided . 0.53854 HET Link to ClinVar
561588 552561 Benign not_provided . 0.19449 HET Link to ClinVar
561367 552569 Benign not_provided . 0.19469 HET Link to ClinVar
561587 552571 Benign not_provided . 0.17332 HET Link to ClinVar
561522 552573 Benign not_provided . 0.19449 HET Link to ClinVar
679865 659746 Benign not_provided . . HET Link to ClinVar
672164 659555 Benign not_provided . . HET Link to ClinVar
672172 659554 Benign not_provided . . HET Link to ClinVar
669015 659751 Benign not_provided . . HET Link to ClinVar
672173 659564 Benign not_provided . . HET Link to ClinVar
671030 659662 Benign not_provided . . HET Link to ClinVar
46148 55313 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
not_specified
Cardiovascular_phenotype		 0.32087 0.35264 HET Link to ClinVar
46150 55315 Benign/Likely_benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5
not_specified
Cardiovascular_phenotype		 0.37237 0.46326 HET Link to ClinVar
671031 659571 Benign not_provided . . HET Link to ClinVar
672174 659764 Benign not_provided . . HOM Link to ClinVar
672175 659771 Benign not_provided . . HOM Link to ClinVar
671209 659780 Benign not_provided . . HET Link to ClinVar
343511 288952 Benign/Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy		 . 0.6891 HOM Link to ClinVar
343518 288959 Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy		 . 0.09265 HET Link to ClinVar
343523 288962 Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy		 . 0.12999 HET Link to ClinVar
343535 292665 Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy		 . 0.10483 HET Link to ClinVar
343536 289712 Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy		 . 0.13059 HET Link to ClinVar
343550 292973 Benign/Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy		 . 0.91893 HOM Link to ClinVar
343551 288985 Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy		 0.12879 0.10783 HET Link to ClinVar
343552 288989 Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy		 . 0.10823 HET Link to ClinVar
343560 289736 Benign/Likely_benign Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
Xeroderma_pigmentosum,_group_C		 0.35332 0.25499 HET Link to ClinVar
190215 187973 drug_response Xeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
not_specified
cisplatin_response_-_Toxicity/ADR		 0.63254 0.6847 HOM Link to ClinVar
259471 250965 Benign not_specified 0.64668 0.69429 HOM Link to ClinVar
259470 250966 Benign not_specified 0.47317 0.32788 HOM Link to ClinVar
190214 187976 Benign Xeroderma_pigmentosum
not_specified
not_provided		 0.63016 0.67971 HOM Link to ClinVar
259469 250967 Benign not_specified . 0.32788 HOM Link to ClinVar
135469 139208 Benign Xeroderma_pigmentosum
not_specified		 0.27341 0.23542 HET Link to ClinVar
190212 187977 Benign not_specified 1 1 HOM Link to ClinVar
135485 139224 Benign Xeroderma_pigmentosum
not_specified		 0.23775 0.23303 HET Link to ClinVar
259472 250973 Benign not_specified 0.32153 0.35563 HET Link to ClinVar
259465 250975 Benign Xeroderma_pigmentosum
not_specified		 0.42109 0.32788 HOM Link to ClinVar
343823 293420 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.38858 HET Link to ClinVar
343828 293014 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.38858 HET Link to ClinVar
343835 289150 Likely_benign Congenital_Myasthenic_Syndrome,_Recessive . 0.0617 HET Link to ClinVar
343839 293024 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.45288 HOM Link to ClinVar
343840 289955 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.48023 HOM Link to ClinVar
128825 134274 Benign/Likely_benign Endplate_acetylcholinesterase_deficiency
not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 0.02975 0.01518 HET Link to ClinVar
679264 659854 Benign not_provided . . HET Link to ClinVar
679263 659641 Benign not_provided . . HET Link to ClinVar
668111 659646 Benign not_provided . . HET Link to ClinVar
679262 659856 Benign not_provided . . HET Link to ClinVar
679261 659648 Benign not_provided . . HET Link to ClinVar
128827 134276 Benign/Likely_benign Endplate_acetylcholinesterase_deficiency
not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 . 0.05252 HET Link to ClinVar
679260 659858 Benign not_provided . . HET Link to ClinVar
679259 659866 Benign not_provided . . HET Link to ClinVar
801939 790344 Benign Endplate_acetylcholinesterase_deficiency . . HET Link to ClinVar
259862 250990 Benign not_specified
not_provided		 0.43139 0.47963 HOM Link to ClinVar
679257 659623 Benign not_provided . . HOM Link to ClinVar
259860 250992 Benign not_specified
not_provided		 0.38252 0.38598 HET Link to ClinVar
679255 659867 Benign not_provided . . HET Link to ClinVar
259859 250993 Benign not_specified
not_provided		 0.46652 0.38598 HET Link to ClinVar
679253 659628 Benign not_provided . . HOM Link to ClinVar
259857 250994 Benign not_specified
not_provided		 0.45599 0.40236 HET Link to ClinVar
679251 659632 Benign not_provided . . HOM Link to ClinVar
679250 659873 Benign not_provided . . HET Link to ClinVar
679249 659875 Benign not_provided . . HET Link to ClinVar
679247 659635 Benign not_provided . . HET Link to ClinVar
679246 659754 Benign not_provided . . HET Link to ClinVar
128826 134275 Benign/Likely_benign Endplate_acetylcholinesterase_deficiency
not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 0.03192 0.03574 HET Link to ClinVar
668110 659757 Benign not_provided . . HET Link to ClinVar
679245 659878 Benign not_provided . . HOM Link to ClinVar
679244 659886 Benign not_provided . . HET Link to ClinVar
369412 353641 Benign Congenital_Myasthenic_Syndrome,_Recessive . 0.42013 HET Link to ClinVar
1900 16939 Pathogenic/Likely_pathogenic Biotinidase_deficiency
not_provided		 0.03166 0.01857 HET Link to ClinVar
344532 289816 Benign Thyroid_Hormone_Resistance . 0.19449 HET Link to ClinVar
344533 289819 Benign Thyroid_Hormone_Resistance . 0.14237 HET Link to ClinVar
344545 290576 Benign Thyroid_Hormone_Resistance . 0.48023 HET Link to ClinVar
344584 294308 Benign Thyroid_Hormone_Resistance . 0.12979 HET Link to ClinVar
344586 289852 Benign Thyroid_Hormone_Resistance . . HET Link to ClinVar
344613 293766 Benign Thyroid_Hormone_Resistance . 0.50539 HET Link to ClinVar
198422 195583 Benign Thyroid_Hormone_Resistance
not_specified		 0.15555 0.15755 HET Link to ClinVar
344640 293815 Benign Thyroid_Hormone_Resistance . . HET Link to ClinVar
198889 196049 Benign not_specified 0.84045 0.80032 HOM Link to ClinVar
774296 698018 Benign not_provided . . HET Link to ClinVar
344653 290674 Benign Marfan_syndrome
Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
not_provided		 . 0.1262 HET Link to ClinVar
683997 659943 Benign not_provided . . HOM Link to ClinVar
684002 659667 Benign not_provided . . HOM Link to ClinVar
684003 659732 Benign not_provided . . HET Link to ClinVar
678626 659737 Benign not_provided . . HOM Link to ClinVar
161394 171083 Conflicting_interpretations_of_pathogenicity Connective_tissue_disorder
Marfan_syndrome
Congenital_aneurysm_of_ascending_aorta
Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided		 0.0014 . HET Link to ClinVar
344681 293839 Benign Marfan_syndrome
Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.11482 HET Link to ClinVar
380173 367350 Benign not_specified 0.06849 0.03714 HET Link to ClinVar
683540 659761 Benign not_provided . . HOM Link to ClinVar
671016 659862 Benign not_provided . . HOM Link to ClinVar
260571 251091 Benign/Likely_benign Brugada_syndrome
not_specified
Cardiovascular_phenotype
not_provided		 0.12859 0.14976 HOM Link to ClinVar
678494 659863 Benign not_provided . . HOM Link to ClinVar
671832 659705 Benign not_provided . . HOM Link to ClinVar
671834 659706 Benign not_provided . . HOM Link to ClinVar
678496 659770 Benign not_provided . . HET Link to ClinVar
671835 659709 Benign not_provided . . HET Link to ClinVar
672397 659776 Benign not_provided . . HET Link to ClinVar
344741 289976 Likely_benign Brugada_syndrome . 0.09365 HET Link to ClinVar
344742 293909 Likely_benign Brugada_syndrome . 0.07768 HET Link to ClinVar
344745 294385 Likely_benign Brugada_syndrome . 0.09645 HET Link to ClinVar
344747 294388 Likely_benign Brugada_syndrome . 0.59844 HET Link to ClinVar
344750 289987 Likely_benign Brugada_syndrome . 0.501 HET Link to ClinVar
344764 289999 Likely_benign Brugada_syndrome . 0.55431 HET Link to ClinVar
344771 294397 Likely_benign Brugada_syndrome . 0.57029 HET Link to ClinVar
344773 290755 Likely_benign Brugada_syndrome . 0.57029 HET Link to ClinVar
167145 177749 Benign not_specified 0.98004 0.92712 HOM Link to ClinVar
558920 549548 Likely_benign not_provided . 0.00359 HET Link to ClinVar
678119 659781 Benign not_provided . . HOM Link to ClinVar
678118 659984 Benign not_provided . . HOM Link to ClinVar
677897 659724 Benign not_provided . . HOM Link to ClinVar
678493 659990 Benign not_provided . . HOM Link to ClinVar
678066 659883 Benign not_provided . . HET Link to ClinVar
678065 659991 Benign not_provided . . HOM Link to ClinVar
92905 98812 Benign Morquio_syndrome
GM1_gangliosidosis
not_specified
not_provided		 0.90516 0.92772 HOM Link to ClinVar
92904 98811 Benign Morquio_syndrome
GM1_gangliosidosis
not_specified
not_provided		 . 0.43191 HET Link to ClinVar
674862 659728 Benign not_provided . . HOM Link to ClinVar
193339 190503 Benign Osteogenesis_imperfecta_type_7
not_specified
Osteogenesis_Imperfecta,_Recessive		 0.21874 0.249 HET Link to ClinVar
667634 659729 Benign not_provided . . HOM Link to ClinVar
669818 659735 Benign not_provided . . HET Link to ClinVar
195265 192426 Benign Osteogenesis_imperfecta_type_7
not_specified
Osteogenesis_Imperfecta,_Recessive		 0.17037 0.28235 HET Link to ClinVar
379754 367110 Benign not_specified 0.00391 0.0022 HET Link to ClinVar
674863 659993 Benign not_provided . . HOM Link to ClinVar
259968 251097 Benign Osteogenesis_imperfecta_type_7
not_specified
Osteogenesis_Imperfecta,_Recessive		 . 0.29353 HET Link to ClinVar
259969 251098 Benign Osteogenesis_imperfecta_type_7
not_specified
Osteogenesis_Imperfecta,_Recessive		 0.3751 0.29353 HET Link to ClinVar
667635 659995 Benign not_provided . . HOM Link to ClinVar
667636 659740 Benign not_provided . . HOM Link to ClinVar
674864 659753 Benign not_provided . . HOM Link to ClinVar
675028 659762 Benign not_provided . . HET Link to ClinVar
344831 294471 Benign Osteogenesis_Imperfecta,_Recessive . . HET Link to ClinVar
344838 290810 Benign Osteogenesis_Imperfecta,_Recessive . 0.30192 HET Link to ClinVar
344843 293982 Benign Osteogenesis_Imperfecta,_Recessive . 0.89597 HOM Link to ClinVar
344851 294489 Benign Osteogenesis_Imperfecta,_Recessive . 0.36102 HET Link to ClinVar
344869 290109 Benign Osteogenesis_Imperfecta,_Recessive . 0.31989 HET Link to ClinVar
344875 290115 Benign Osteogenesis_Imperfecta,_Recessive . 0.30371 HET Link to ClinVar
89594 95068 Benign Lynch_syndrome . 0.40395 HET Link to ClinVar
89600 95074 Benign Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_II
not_specified		 . 0.32049 HET Link to ClinVar
90024 95498 Benign Lynch_syndrome . 0.30871 HET Link to ClinVar
90146 95620 Benign Lynch_syndrome . 0.24501 HET Link to ClinVar
90227 95701 Benign Lynch_syndrome
not_specified		 . 0.30931 HET Link to ClinVar
36557 45219 Benign Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_II
Lynch_syndrome_I
not_specified
not_provided		 0.23254 0.12959 HET Link to ClinVar
90366 95840 Benign Lynch_syndrome . 0.30931 HET Link to ClinVar
90368 95842 Benign Lynch_syndrome . 0.24501 HET Link to ClinVar
89615 95089 Benign Lynch_syndrome . 0.30931 HET Link to ClinVar
89611 95085 Benign Lynch_syndrome . 0.29014 HET Link to ClinVar
89625 95099 Benign Lynch_syndrome
not_specified		 . 0.24641 HET Link to ClinVar
89773 95247 Benign Lynch_syndrome . 0.2532 HET Link to ClinVar
89785 95259 Benign Lynch_syndrome . 0.24521 HET Link to ClinVar
89830 95304 Benign Lynch_syndrome . 0.26298 HET Link to ClinVar
36542 45204 Benign Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_II
not_specified		 0.37125 0.3123 HET Link to ClinVar
89983 95457 Benign Lynch_syndrome
not_specified		 . 0.30391 HET Link to ClinVar
89585 95059 Benign Lynch_syndrome . 0.39697 HET Link to ClinVar
402987 389600 Benign not_specified 0.57251 0.53275 HET Link to ClinVar
402989 389568 Benign not_specified 0.57278 0.5591 HET Link to ClinVar
257468 251100 Benign Heterotaxia
Heterotaxy,_visceral,_4,_autosomal
not_specified		 0.5683 0.48043 HET Link to ClinVar
257470 251101 Benign Heterotaxia
Heterotaxy,_visceral,_4,_autosomal
not_specified		 0.48531 0.35643 HET Link to ClinVar
257467 251104 Benign Heterotaxia
Heterotaxy,_visceral,_4,_autosomal
not_specified		 0.48508 0.35324 HET Link to ClinVar
344937 290945 Benign Heterotaxia . 0.35344 HET Link to ClinVar
344939 294052 Benign Heterotaxia . 0.61022 HET Link to ClinVar
344940 290157 Benign Heterotaxia . 0.35224 HET Link to ClinVar
344943 294576 Benign Heterotaxia . . HET Link to ClinVar
344967 290957 Benign Heterotaxia . 0.38578 HET Link to ClinVar
344974 290185 Benign Heterotaxia . 0.61621 HET Link to ClinVar
344981 294662 Benign Heterotaxia . 0.35324 HET Link to ClinVar
344991 294205 Benign Heterotaxia . 0.61082 HET Link to ClinVar
344995 290974 Benign Heterotaxia . 0.35324 HET Link to ClinVar
344996 290975 Benign Heterotaxia . 0.32188 HET Link to ClinVar
345010 294237 Benign Heterotaxia . 0.44728 HET Link to ClinVar
345025 294684 Benign Heterotaxia . 0.35324 HET Link to ClinVar
345032 290212 Benign Heterotaxia . 0.44728 HET Link to ClinVar
345077 294718 Likely_benign Sick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
Progressive_familial_heart_block
Dilated_Cardiomyopathy,_Dominant		 . 0.31689 HET Link to ClinVar
345092 291055 Likely_benign Sick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
Progressive_familial_heart_block
Dilated_Cardiomyopathy,_Dominant		 . 0.11442 HET Link to ClinVar
345108 294382 Likely_benign Sick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
Progressive_familial_heart_block
Dilated_Cardiomyopathy,_Dominant		 . 0.49441 HET Link to ClinVar
48307 57470 Benign/Likely_benign Arrhythmia
Sick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
not_specified
Progressive_familial_heart_block
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.38781 0.49241 HET Link to ClinVar
680772 659791 Benign not_provided . . HET Link to ClinVar
680800 659801 Benign not_provided . . HET Link to ClinVar
671861 659799 Benign not_provided . . HET Link to ClinVar
680771 659902 Benign not_provided . . HET Link to ClinVar
48297 57460 Benign/Likely_benign Arrhythmia
Sick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
not_specified
Progressive_familial_heart_block
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 . 0.92312 HOM Link to ClinVar
671859 659814 Benign not_provided . . HOM Link to ClinVar
671843 660041 Benign not_provided . . . Link to ClinVar
678034 659913 Benign not_provided . . HOM Link to ClinVar
678033 659809 Benign not_provided . . HOM Link to ClinVar
48289 38447 Benign/Likely_benign Arrhythmia
Sick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
Brugada_syndrome_1
not_specified
Progressive_familial_heart_block
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.22174 0.23043 HET Link to ClinVar
257437 251108 Benign not_specified 0.21916 0.17512 HET Link to ClinVar
678604 659916 Benign not_provided . . HET Link to ClinVar
48280 57444 Benign/Likely_benign Arrhythmia
Sick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
not_specified
Progressive_familial_heart_block
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.17223 0.15116 HET Link to ClinVar
671842 659848 Benign not_provided . . HET Link to ClinVar
671841 659919 Benign not_provided . . HOM Link to ClinVar
680765 659859 Benign not_provided . . HOM Link to ClinVar
671840 660060 Benign not_provided . . HOM Link to ClinVar
671839 660066 Benign not_provided . . HOM Link to ClinVar
680768 659824 Benign not_provided . . HET Link to ClinVar
678603 659928 Benign not_provided . . HET Link to ClinVar
48318 57481 Benign/Likely_benign Arrhythmia
Sick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
not_specified
Progressive_familial_heart_block
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.77367 0.78175 HOM Link to ClinVar
259999 251110 Benign Brugada_syndrome_1
not_specified		 1 1 HOM Link to ClinVar
95404 101303 Benign not_specified 0.91991 0.92472 HOM Link to ClinVar
669293 659827 Benign not_provided . . HOM Link to ClinVar
259996 251113 Benign not_specified 0.65856 0.75799 HET Link to ClinVar
259994 251115 Benign not_specified 0.23496 0.1905 HET Link to ClinVar
95401 101300 Benign not_specified 0.24093 0.21066 HET Link to ClinVar
669327 660090 Benign not_provided . . HET Link to ClinVar
259993 251116 Benign not_specified 0.65368 0.75779 HET Link to ClinVar
259992 251117 Benign not_specified 0.24302 0.20767 HET Link to ClinVar
668846 659958 Benign not_provided . . HET Link to ClinVar
259991 251118 Benign not_specified 0.23438 0.20747 HET Link to ClinVar
669276 659898 Benign not_provided . . HET Link to ClinVar
260000 251119 Benign not_specified 0.32987 0.38878 HET Link to ClinVar
670898 659844 Benign not_provided . . HET Link to ClinVar
260336 251120 Benign not_specified 0.5575 0.59944 HET Link to ClinVar
260335 251121 Benign not_specified . 0.15355 HET Link to ClinVar
260334 251122 Benign not_specified 0.65145 0.61242 HET Link to ClinVar
242801 23191 . . 0.22093 0.14437 HET Link to ClinVar
721354 734051 Likely_benign not_provided . . HET Link to ClinVar
281680 265917 Benign Refractory_anemia_with_ringed_sideroblasts_(clinical)
Anemia,_sideroblastic,_1
not_specified		 0.48199 0.41613 HOM Link to ClinVar
671096 660003 Benign not_provided . . HOM Link to ClinVar
403583 389614 Benign not_specified 0.85123 0.87001 HOM Link to ClinVar
403584 389585 Benign not_specified 0.78848 0.6885 HOM Link to ClinVar
403585 389558 Benign not_specified 0.97695 0.91933 HOM Link to ClinVar
403586 389570 Benign not_specified 0.7785 0.6881 HOM Link to ClinVar
403587 389595 Benign not_specified 0.97689 0.91893 HOM Link to ClinVar
403588 389560 Benign not_specified 0.95464 0.69808 HOM Link to ClinVar
403589 389621 Benign not_specified . 0.68131 HOM Link to ClinVar
403590 389563 Benign not_specified 0.78474 0.67991 HOM Link to ClinVar
403591 389597 Benign not_specified 0.78694 0.68211 HOM Link to ClinVar
226688 229062 Benign not_specified 0.64885 0.6226 HET Link to ClinVar
682890 659937 Benign not_provided . . HET Link to ClinVar
682889 659874 Benign not_provided . . HET Link to ClinVar
226689 229063 Benign not_specified 0.81677 0.89976 HOM Link to ClinVar
262104 251133 Benign not_specified 0.78602 0.78275 HOM Link to ClinVar
262102 251138 Benign not_specified . 0.45248 HOM Link to ClinVar
128388 133837 Benign/Likely_benign Spinocerebellar_ataxia,_autosomal_recessive_10
not_specified
Autosomal_recessive_cerebellar_ataxia		 0.04793 0.03694 HET Link to ClinVar
128387 133836 Benign Spinocerebellar_ataxia,_autosomal_recessive_10
not_specified
Autosomal_recessive_cerebellar_ataxia
not_provided		 0.6505 0.66314 HET Link to ClinVar
260993 251139 Benign Spinocerebellar_ataxia,_autosomal_recessive_10
not_specified
Autosomal_recessive_cerebellar_ataxia
not_provided		 0.68496 0.63678 HET Link to ClinVar
128386 133835 Benign/Likely_benign Spinocerebellar_ataxia,_autosomal_recessive_10
not_specified
Autosomal_recessive_cerebellar_ataxia
not_provided		 0.05077 0.04872 HET Link to ClinVar
345238 294528 Benign Triglyceride_storage_disease_with_ichthyosis . . HET Link to ClinVar
345240 290409 Benign Triglyceride_storage_disease_with_ichthyosis . 0.54872 HET Link to ClinVar
717832 720454 Likely_benign not_provided . . HET Link to ClinVar
684236 660032 Benign not_provided . . HET Link to ClinVar
684161 660114 Benign not_provided . . HET Link to ClinVar
684169 659941 Benign not_provided . . HOM Link to ClinVar
669494 660117 Benign not_provided . . HET Link to ClinVar
684172 659891 Benign not_provided . . HOM Link to ClinVar
676142 660132 Benign not_provided . . HOM Link to ClinVar
226691 229072 Benign not_specified
not_provided		 0.90257 0.78295 HOM Link to ClinVar
684174 659950 Benign not_provided . . HOM Link to ClinVar
684176 659951 Benign not_provided . . HOM Link to ClinVar
226693 229074 Benign not_specified
not_provided		 . 0.78275 HOM Link to ClinVar
226698 229079 Benign not_specified
not_provided		 0.28568 0.24621 HOM Link to ClinVar
226700 229082 Benign not_specified
not_provided		 0.95151 0.84944 HOM Link to ClinVar
676144 659906 Benign not_provided . . HOM Link to ClinVar
226704 229089 Benign not_specified
not_provided		 0.95754 0.86082 HOM Link to ClinVar
684184 660178 Benign not_provided . . HOM Link to ClinVar
676145 660184 Benign not_provided . . HET Link to ClinVar
345340 291372 Likely_benign Hyperglycinuria . 0.2482 HET Link to ClinVar
345349 290496 Likely_benign Hyperglycinuria . 0.96406 HOM Link to ClinVar
345365 291398 Likely_benign Hyperglycinuria . . HOM Link to ClinVar
345374 291401 Uncertain_significance Hyperglycinuria . . HET Link to ClinVar
345387 294639 Likely_benign Hyperglycinuria . 0.96346 HOM Link to ClinVar
345390 290548 Likely_benign Hyperglycinuria 0.1 0.04692 HET Link to ClinVar
345420 290570 Likely_benign Hyperglycinuria 0.95651 0.94888 HOM Link to ClinVar
345428 294713 Likely_benign Hyperglycinuria 0.12786 0.08846 HET Link to ClinVar
345435 295094 Benign Congenital_cataract . 0.92173 HOM Link to ClinVar
345439 290594 Benign Congenital_cataract . 0.40994 HET Link to ClinVar
345443 295105 Benign Congenital_cataract . . HET Link to ClinVar
345445 291474 Benign Congenital_cataract . 0.92173 HOM Link to ClinVar
345459 291505 Benign Congenital_cataract . 0.39956 HET Link to ClinVar
345469 295130 Benign Congenital_cataract . 0.92013 HOM Link to ClinVar
345481 295144 Benign Congenital_cataract . 0.38558 HET Link to ClinVar
345484 291519 Benign Congenital_cataract . 0.8151 HOM Link to ClinVar
345486 294752 Benign Congenital_cataract . 0.94269 HOM Link to ClinVar
345487 295148 Benign Congenital_cataract . 0.40974 HET Link to ClinVar
261734 251149 Benign Congenital_cataract
not_specified
not_provided		 0.79208 0.86721 HET Link to ClinVar
261722 251159 Benign Congenital_cataract
not_specified
not_provided		 0.43032 0.39517 HET Link to ClinVar
261738 251164 Benign Congenital_cataract
not_specified
not_provided		 0.56701 0.53295 HET Link to ClinVar
261736 251166 Benign Congenital_cataract
not_specified
not_provided		 . 0.92812 HOM Link to ClinVar
261725 251167 Benign Congenital_cataract
not_specified		 0.43051 0.38698 HET Link to ClinVar
261723 251168 Benign Congenital_cataract
not_specified
not_provided		 0.79893 0.76298 HOM Link to ClinVar
8184 23223 Benign West_nile_virus,_susceptibility_to
Resistance_to_hepatitis_C_virus
Human_immunodeficiency_virus_type_1,_susceptibility_to
Multiple_sclerosis_modifier_of_disease_progression
not_provided		 . . HET Link to ClinVar
47962 57126 Benign Deafness,_autosomal_recessive_6
not_specified		 . . HOM Link to ClinVar
345596 295275 Benign Metaphyseal_chondrodysplasia
Chondrodysplasia		 0.61407 0.64337 HOM Link to ClinVar
260575 251172 Benign not_specified 0.58294 0.47224 HOM Link to ClinVar
260582 251179 Benign Gray_platelet_syndrome
not_specified		 0.56567 0.47165 HOM Link to ClinVar
345670 291769 Conflicting_interpretations_of_pathogenicity Gray_platelet_syndrome
not_provided		 0.00566 0.0008 HET Link to ClinVar
260584 251181 Benign Gray_platelet_syndrome
not_specified		 0.98735 0.94928 HOM Link to ClinVar
260586 251183 Benign Gray_platelet_syndrome
not_specified		 . 0.47205 HOM Link to ClinVar
260588 251185 Benign not_specified 0.56113 0.54653 HOM Link to ClinVar
260589 251186 Benign not_specified . . HOM Link to ClinVar
260590 251187 Benign not_specified 0.29821 0.23403 HET Link to ClinVar
345697 294982 Benign Gray_platelet_syndrome . . HOM Link to ClinVar
436678 428201 Likely_benign not_specified . . . Link to ClinVar
135202 138941 Benign not_specified
not_provided		 . 0.46985 HOM Link to ClinVar
475524 452755 Benign not_provided 0.00348 0.001 HET Link to ClinVar
586533 576751 Benign not_provided 0.6343 0.67832 HOM Link to ClinVar
345769 291833 Benign Aicardi_Goutieres_syndrome
Vasculopathy,_retinal,_with_cerebral_leukodystrophy
not_provided		 . 0.11482 HOM Link to ClinVar
255115 251191 Likely_benign not_specified . . HOM Link to ClinVar
255108 251198 Benign Dystrophic_epidermolysis_bullosa
not_specified		 0.35726 0.43051 HET Link to ClinVar
255107 251199 Benign Dystrophic_epidermolysis_bullosa
not_specified		 . 0.68111 HOM Link to ClinVar
255103 251203 Benign Dystrophic_epidermolysis_bullosa
Recessive_dystrophic_epidermolysis_bullosa
not_specified		 0.11916 0.09904 HET Link to ClinVar
92883 98790 Benign not_specified 0.99135 0.99521 HOM Link to ClinVar
683820 659914 Benign not_provided . . HOM Link to ClinVar
380004 367668 Benign not_specified 0.73037 0.75799 HOM Link to ClinVar
380775 367325 Benign not_specified . 0.58287 HOM Link to ClinVar
226558 229102 Benign Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C9
not_specified		 0.99231 0.96586 HOM Link to ClinVar
31753 40413 Benign not_specified
not_provided		 0.99248 0.96586 HOM Link to ClinVar
31754 40414 Benign not_provided . 0.96605 HOM Link to ClinVar
31757 40417 not_provided not_provided 0.56387 0.55411 HOM Link to ClinVar
668904 660047 Benign not_provided . . HET Link to ClinVar
668902 660053 Benign not_provided . . HET Link to ClinVar
668901 659920 Benign not_provided . . HET Link to ClinVar
346060 291130 Benign Congenital_Stationary_Night_Blindness,_Dominant . 0.32388 HET Link to ClinVar
346062 295475 Benign Congenital_Stationary_Night_Blindness,_Dominant . 0.21605 HET Link to ClinVar
346070 292121 Benign Congenital_Stationary_Night_Blindness,_Dominant . 0.59385 HET Link to ClinVar
7091 22130 Affects,_risk_factor Tuberculosis,_susceptibility_to
Susceptibility_to_malaria
Bacteremia,_susceptibility_to,_2		 . 0.71985 HOM Link to ClinVar
478413 452896 Benign SPERMATOGENIC_FAILURE_18
Ciliary_dyskinesia,_primary,_37		 0.03595 0.03055 HET Link to ClinVar
478430 452892 Benign SPERMATOGENIC_FAILURE_18
Ciliary_dyskinesia,_primary,_37		 0.03465 0.02776 HET Link to ClinVar
402598 389573 Benign not_specified 0.18817 0.16114 HET Link to ClinVar
402599 389631 Benign not_specified . 0.15296 HET Link to ClinVar
478382 453030 Benign SPERMATOGENIC_FAILURE_18
Ciliary_dyskinesia,_primary,_37		 . 0.02995 HET Link to ClinVar
478396 453316 Benign SPERMATOGENIC_FAILURE_18
Ciliary_dyskinesia,_primary,_37		 0.03811 0.02995 HET Link to ClinVar
402605 389649 Benign not_specified . 0.99641 HOM Link to ClinVar
346111 292135 Likely_benign Tumor_susceptibility_linked_to_germline_BAP1_mutations . 0.02816 HET Link to ClinVar
676905 660247 Likely_benign not_provided . . HET Link to ClinVar
671944 660250 Benign not_provided . . HET Link to ClinVar
716630 720568 Benign not_provided . . HET Link to ClinVar
346142 292152 Benign Congenital_disorder_of_glycosylation . 0.71845 HET Link to ClinVar
346143 295729 Likely_benign Congenital_disorder_of_glycosylation . 0.16993 HET Link to ClinVar
346172 295628 Likely_benign Congenital_disorder_of_glycosylation . 0.16693 HET Link to ClinVar
346174 295786 Likely_benign Congenital_disorder_of_glycosylation . 0.14796 HET Link to ClinVar
346175 291224 Benign Congenital_disorder_of_glycosylation . 0.65076 HET Link to ClinVar
440191 433862 Conflicting_interpretations_of_pathogenicity not_provided 0.00089 . HET Link to ClinVar
403345 390582 Benign not_specified 0.27574 0.28215 HET Link to ClinVar
403346 390583 Benign not_specified 0.74805 0.71346 HET Link to ClinVar
403347 390584 Benign not_specified 0.96547 0.90196 HOM Link to ClinVar
403348 390585 Benign not_specified 0.98348 0.9405 HOM Link to ClinVar
518347 508788 Benign Sinoatrial_node_dysfunction_and_deafness 0.88867 0.91094 HOM Link to ClinVar
226470 229117 Benign Sinoatrial_node_dysfunction_and_deafness
not_specified		 0.29936 0.19229 HET Link to ClinVar
346219 295678 Benign Robinow_syndrome,_autosomal_dominant_1 . 0.0643 HET Link to ClinVar
346220 292266 Benign Robinow_syndrome,_autosomal_dominant_1 . . HET Link to ClinVar
346223 291265 Benign Robinow_syndrome,_autosomal_dominant_1 . 0.80951 HOM Link to ClinVar
346235 292289 Benign Robinow_syndrome,_autosomal_dominant_1 . 0.13059 HET Link to ClinVar
346242 295824 Benign Robinow_syndrome,_autosomal_dominant_1 . 0.1232 HET Link to ClinVar
346260 295848 Benign Robinow_syndrome,_autosomal_dominant_1 . 0.1228 HET Link to ClinVar
402505 390507 Benign not_specified . . HOM Link to ClinVar
402630 389587 Benign not_specified 0.61841 0.66514 HOM Link to ClinVar
402631 390439 Benign not_specified 0.29934 0.27736 HOM Link to ClinVar
402632 390440 Benign not_specified 0.53665 0.58646 HOM Link to ClinVar
402633 389575 Benign not_specified 0.54425 0.59045 HOM Link to ClinVar
402635 389613 Benign not_specified 0.31811 0.29992 HOM Link to ClinVar
402636 389577 Benign not_specified 0.50071 0.40415 HOM Link to ClinVar
402637 389618 Benign not_specified 0.52935 0.42093 HOM Link to ClinVar
402638 389622 Benign not_specified 0.53725 0.42512 HOM Link to ClinVar
402639 389580 Benign not_specified 0.71851 0.63239 HOM Link to ClinVar
402640 389593 Benign not_specified 0.71653 0.63159 HOM Link to ClinVar
402641 389651 Benign not_specified 0.71297 0.63159 HOM Link to ClinVar
402642 389594 Benign not_specified . 0.63359 HOM Link to ClinVar
516749 500813 Benign not_specified 0.29594 0.29952 HOM Link to ClinVar
683067 660265 Benign not_provided . . HET Link to ClinVar
670721 659986 Benign not_provided . . HET Link to ClinVar
671372 660063 Benign not_provided . . HET Link to ClinVar
671375 659987 Benign not_provided . . HET Link to ClinVar
683105 659944 Benign not_provided . . HET Link to ClinVar
683107 659947 Benign not_provided . . HET Link to ClinVar
258106 251255 Benign/Likely_benign not_specified
FLNB-Related_Spectrum_Disorders		 0.37322 0.54613 HET Link to ClinVar
671078 659949 Benign not_provided . . HET Link to ClinVar
671079 659954 Benign not_provided . . HET Link to ClinVar
671095 660007 Benign not_provided . . HET Link to ClinVar
671101 660009 Benign not_provided . . HET Link to ClinVar
258110 251258 Benign/Likely_benign not_specified
FLNB-Related_Spectrum_Disorders		 0.7079 0.83327 HET Link to ClinVar
258111 251259 Benign/Likely_benign not_specified
FLNB-Related_Spectrum_Disorders		 0.40909 0.64856 HET Link to ClinVar
671102 660281 Benign not_provided . . HET Link to ClinVar
683109 660013 Benign not_provided . . HET Link to ClinVar
258114 251262 Benign/Likely_benign not_specified
FLNB-Related_Spectrum_Disorders		 0.39517 0.60823 HET Link to ClinVar
671106 660107 Benign not_provided . . HET Link to ClinVar
683137 660112 Benign not_provided . . HET Link to ClinVar
258119 251266 Benign not_specified 0.66979 0.7486 HET Link to ClinVar
258122 251269 Benign/Likely_benign not_specified
FLNB-Related_Spectrum_Disorders		 0.3852 0.57129 HET Link to ClinVar
683176 660026 Benign not_provided . . HET Link to ClinVar
683177 660031 Benign not_provided . . HET Link to ClinVar
346385 295902 Likely_benign FLNB-Related_Spectrum_Disorders . 0.69309 HET Link to ClinVar
346397 295906 Benign Pyruvate_dehydrogenase_complex_deficiency 0.48887 0.36741 HET Link to ClinVar
346398 295935 Benign Pyruvate_dehydrogenase_complex_deficiency . 0.1847 HET Link to ClinVar
346399 292522 Benign Pyruvate_dehydrogenase_complex_deficiency 0.79502 0.74181 HOM Link to ClinVar
346400 292523 Benign Pyruvate_dehydrogenase_complex_deficiency 0.29444 0.20048 HET Link to ClinVar
346402 291384 Benign Pyruvate_dehydrogenase_complex_deficiency 0.40836 0.36721 HET Link to ClinVar
346403 295938 Benign Pyruvate_dehydrogenase_complex_deficiency . 0.20467 HET Link to ClinVar
669536 660122 Benign not_provided . . HET Link to ClinVar
129880 135326 Benign Pyruvate_dehydrogenase_complex_deficiency
not_specified
not_provided		 0.28318 0.20467 HET Link to ClinVar
559256 549911 Benign not_provided . . HOM Link to ClinVar
669535 660124 Benign not_provided . . HET Link to ClinVar
128518 133967 Likely_benign not_specified . 0.4377 HET Link to ClinVar
346415 295948 Benign Progressive_myoclonic_epilepsy . 0.88099 HOM Link to ClinVar
346417 291387 Benign Progressive_myoclonic_epilepsy . 0.88139 HOM Link to ClinVar
346422 291393 Likely_benign Progressive_myoclonic_epilepsy . 0.10463 HET Link to ClinVar
346436 292571 Likely_benign Progressive_myoclonic_epilepsy . 0.14377 HET Link to ClinVar
346438 291405 Benign Progressive_myoclonic_epilepsy . 0.91194 HOM Link to ClinVar
346439 292572 Likely_benign Progressive_myoclonic_epilepsy . 0.09485 HET Link to ClinVar
346451 295958 Benign Progressive_myoclonic_epilepsy . 0.91214 HOM Link to ClinVar
130035 135481 Likely_benign Progressive_myoclonic_epilepsy
not_specified		 0.06556 0.05471 HET Link to ClinVar
130137 135584 Benign Progressive_myoclonic_epilepsy
not_specified
Epilepsy,_progressive_myoclonic_5
not_provided		 0.99453 0.98383 HOM Link to ClinVar
162162 171875 not_provided not_provided . 0.71326 HET Link to ClinVar
683875 659999 Benign not_provided . . HOM Link to ClinVar
683876 660000 Benign not_provided . . HOM Link to ClinVar
683906 660057 Benign not_provided . . HET Link to ClinVar
672597 660333 Benign not_provided . . HET Link to ClinVar
683910 660338 Benign not_provided . . HET Link to ClinVar
683922 660064 Benign not_provided . . HET Link to ClinVar
671598 660033 Benign not_provided . . HET Link to ClinVar
683936 655577 Benign not_provided . . HET Link to ClinVar
683946 660149 Benign not_provided . . HET Link to ClinVar
403054 389634 Benign not_specified 0.62275 0.69449 HET Link to ClinVar
403055 389637 Benign not_specified 0.31331 0.36222 HET Link to ClinVar
403057 389598 Benign not_specified 0.91703 0.71985 HOM Link to ClinVar
403058 389599 Benign not_specified 0.91787 0.71985 HOM Link to ClinVar
683801 655578 Benign not_provided . . HET Link to ClinVar
683791 660085 Benign not_provided . . HET Link to ClinVar
346554 296049 Benign Intellectual_Disability_with_Language_Impairment_and_Autistic_Features . . HET Link to ClinVar
346618 296140 Benign Intellectual_Disability_with_Language_Impairment_and_Autistic_Features . 0.73862 HET Link to ClinVar
96228 102122 Benign not_specified 0.94518 0.97464 HOM Link to ClinVar
346653 296189 Benign Intellectual_Disability_with_Language_Impairment_and_Autistic_Features . 0.1224 HET Link to ClinVar
346667 296180 Benign Vesicoureteral_reflux . 0.48682 HET Link to ClinVar
346732 296283 Benign Vesicoureteral_reflux . 0.57788 HOM Link to ClinVar
346754 296295 Benign Vesicoureteral_reflux . 0.68311 HOM Link to ClinVar
346763 296254 Benign Vesicoureteral_reflux . 0.58247 HOM Link to ClinVar
346781 293004 Benign Glycogen_storage_disease,_type_IV
Polyglucosan_body_disease,_adult		 . 0.30911 HOM Link to ClinVar
197636 194797 Benign Glycogen_storage_disease,_type_IV
Polyglucosan_body_disease,_adult
not_specified
not_provided		 0.3746 0.32149 HET Link to ClinVar
98000 103892 Benign Frontotemporal_dementia
not_specified
not_provided		 0.90601 0.8157 HOM Link to ClinVar
346829 291712 Benign Frontotemporal_dementia
Combined_Pituitary_Hormone_Deficiency,_Recessive		 . 1 HOM Link to ClinVar
346833 291719 Benign/Likely_benign Frontotemporal_dementia
Combined_Pituitary_Hormone_Deficiency,_Recessive		 . . HET Link to ClinVar
346836 291720 Benign/Likely_benign Frontotemporal_dementia
Combined_Pituitary_Hormone_Deficiency,_Recessive		 . 0.17512 HET Link to ClinVar
346871 296359 Likely_benign Protein_S_deficiency . 0.76038 HOM Link to ClinVar
255811 251293 Benign/Likely_benign Protein_S_deficiency
not_specified
not_provided		 0.42683 0.38518 HET Link to ClinVar
128452 133901 Benign/Likely_benign Joubert_syndrome
Joubert_syndrome_8
not_specified
not_provided		 0.10097 0.07768 HET Link to ClinVar
346944 296459 Benign Bardet-Biedl_syndrome
Retinitis_Pigmentosa,_Recessive		 . 0.95787 HOM Link to ClinVar
769275 698308 Benign not_provided . . HOM Link to ClinVar
769276 698309 Benign not_provided . . HOM Link to ClinVar
346955 293139 Benign Hereditary_coproporphyria . 0.3153 HET Link to ClinVar
346958 293174 Benign Hereditary_coproporphyria . . HOM Link to ClinVar
346967 296499 Benign Hereditary_coproporphyria . 0.32987 HET Link to ClinVar
346977 296501 Benign Hereditary_coproporphyria 0.70652 0.75399 HOM Link to ClinVar
346979 296470 Benign Hereditary_coproporphyria
Acute_Porphyria		 0.17413 0.24581 HET Link to ClinVar
670587 655490 Benign not_provided . . HET Link to ClinVar
670746 659417 Benign not_provided . . HET Link to ClinVar
667550 659419 Benign not_provided . . HET Link to ClinVar
670747 659422 Benign not_provided . . HET Link to ClinVar
440333 433969 Benign not_specified 0.69927 0.71306 HET Link to ClinVar
342277 291465 Benign Retinitis_Pigmentosa,_Recessive . 0.8129 HET Link to ClinVar
342299 291657 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.13578 HET Link to ClinVar
342302 287878 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.13718 HET Link to ClinVar
342308 287884 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.13718 HET Link to ClinVar
342316 291663 Benign Retinitis_Pigmentosa,_Recessive . 0.8129 HET Link to ClinVar
342324 287897 Benign Retinitis_Pigmentosa,_Recessive . 0.83806 HET Link to ClinVar
342337 291531 Benign Retinitis_Pigmentosa,_Recessive 0.79106 0.8129 HET Link to ClinVar
342514 288051 Benign C_syndrome . 0.45887 HOM Link to ClinVar
342543 288080 Benign C_syndrome 0.99882 0.99661 HOM Link to ClinVar
342562 291866 Benign C_syndrome . 0.90615 HOM Link to ClinVar
342574 291888 Benign C_syndrome . 0.94189 HOM Link to ClinVar
774846 697754 Benign not_provided . . HET Link to ClinVar
342598 291920 Likely_benign Hereditary_Essential_Tremor . 0.95787 HOM Link to ClinVar
512983 500408 Benign not_specified . 0.58866 HET Link to ClinVar
16770 31809 Likely_benign Essential_tremor,_susceptibility_to
Schizophrenia,_susceptibility_to
Hereditary_Essential_Tremor
not_specified		 0.65683 0.51358 HOM Link to ClinVar
342620 288882 Benign Adams-Oliver_syndrome . 0.30371 HET Link to ClinVar
342622 288132 Likely_benign Adams-Oliver_syndrome . 0.00919 HET Link to ClinVar
342639 291961 Benign Adams-Oliver_syndrome 0.99996 1 HOM Link to ClinVar
342649 291872 Benign Adams-Oliver_syndrome 0.17061 0.1877 HET Link to ClinVar
342658 291972 Benign Adams-Oliver_syndrome
not_specified		 0.80828 0.84565 HET Link to ClinVar
342688 291989 Benign Adams-Oliver_syndrome . 0.78035 HET Link to ClinVar
342723 288237 Benign Adams-Oliver_syndrome . 0.76118 HET Link to ClinVar
255481 250852 Benign Alkaptonuria
not_specified		 0.73533 0.73163 HOM Link to ClinVar
780030 708494 Benign not_provided . . HET Link to ClinVar
342768 288275 Benign Renal_dysplasia_and_retinal_aplasia . 0.62121 HET Link to ClinVar
257092 250853 Benign not_specified . . HET Link to ClinVar
257090 250855 Benign Renal_dysplasia_and_retinal_aplasia
Senior-Loken_syndrome_5
not_specified
not_provided		 0.28893 0.30272 HET Link to ClinVar
198444 195605 Benign Renal_dysplasia_and_retinal_aplasia
not_specified
not_provided		 0.62748 0.62001 HET Link to ClinVar
342784 292112 Benign Renal_dysplasia_and_retinal_aplasia . . HET Link to ClinVar
44141 53309 Benign not_specified 0.73945 0.78494 HET Link to ClinVar
44145 53313 Benign not_specified . 0.35204 HET Link to ClinVar
35799 44463 Benign Familial_hypocalciuric_hypercalcemia
not_specified
not_provided		 0.94371 0.92193 HOM Link to ClinVar
166798 177553 Benign not_specified 0.9916 0.97284 HOM Link to ClinVar
166799 177554 Benign not_specified 0.94463 0.92412 HOM Link to ClinVar
342806 288311 Benign Hypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated		 . 0.92013 HOM Link to ClinVar
342809 292174 Benign Hypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated		 . . HET Link to ClinVar
342810 292175 Benign Hypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated		 . 0.96865 HOM Link to ClinVar
342815 288319 Benign Hypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated		 . 0.18151 HET Link to ClinVar
342820 292050 Benign Hypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated		 . 0.53315 HOM Link to ClinVar
801997 790321 Benign Dyskinesia,_familial,_with_facial_myokymia . . HET Link to ClinVar
342823 292195 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.44409 HET Link to ClinVar
342845 292071 Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection . . HET Link to ClinVar
342849 289127 Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection . 0.49561 HET Link to ClinVar
342853 288338 Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection . 0.35164 HET Link to ClinVar
226771 228984 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype		 0.21825 0.3744 HET Link to ClinVar
226770 228986 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype		 0.23037 0.39617 HET Link to ClinVar
226764 228992 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided		 0.57832 0.33267 HOM Link to ClinVar
194903 192065 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided		 0.98242 0.94788 HOM Link to ClinVar
226757 229000 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
not_provided		 0.97219 0.91354 HOM Link to ClinVar
409695 393266 Conflicting_interpretations_of_pathogenicity Connective_tissue_disorder
not_specified
Cardiovascular_phenotype
not_provided		 0.00039 . HET Link to ClinVar
226755 229002 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided		 0.99962 0.999 HOM Link to ClinVar
226753 229004 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype		 0.65665 0.63279 HOM Link to ClinVar
198606 195767 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided		 0.9445 0.85623 HOM Link to ClinVar
342911 292179 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.14597 HET Link to ClinVar
342913 292298 Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection . 0.66973 HET Link to ClinVar
100124 106001 Benign Orotic_aciduria
not_provided		 0.60341 0.5591 HET Link to ClinVar
100125 106002 Benign Orotic_aciduria
not_provided		 . 0.46146 HET Link to ClinVar
100126 106003 Benign Orotic_aciduria
not_provided		 0.59686 0.5601 HET Link to ClinVar
100128 106005 not_provided not_provided . 0.64717 HET Link to ClinVar
100130 106007 not_provided not_provided . 0.24281 HET Link to ClinVar
342942 289191 Benign Orotic_aciduria 0.46956 0.53455 HET Link to ClinVar
342953 288466 Benign Orotic_aciduria 0.2609 0.27176 HET Link to ClinVar
342954 288468 Benign Orotic_aciduria . . HET Link to ClinVar
342965 288478 Benign Orotic_aciduria 0.22927 0.24481 HET Link to ClinVar
343011 292236 Benign Orotic_aciduria 0.22879 0.24201 HET Link to ClinVar
343021 292369 Benign Orotic_aciduria 0.93886 0.96246 HET Link to ClinVar
343027 289269 Benign Orotic_aciduria 0.22873 0.24261 HET Link to ClinVar
343028 288507 Benign Orotic_aciduria 0.27821 0.34505 HET Link to ClinVar
508098 500279 Benign not_specified 0.68464 0.59605 HOM Link to ClinVar
508099 500057 Benign not_specified 0.75523 0.78994 HOM Link to ClinVar
539725 518873 Benign not_provided . 0.6901 HOM Link to ClinVar
257563 250906 Benign Lymphedema,_primary,_with_myelodysplasia
not_specified		 0.69432 0.70986 HOM Link to ClinVar
343167 292548 Likely_benign Charcot-Marie-Tooth_disease,_type_2 . 0.05152 HET Link to ClinVar
343189 292405 Benign Acyl-CoA_dehydrogenase_family,_member_9,_deficiency_of
not_provided		 . . HET Link to ClinVar
682733 659485 Benign not_provided . . HET Link to ClinVar
677920 659489 Benign not_provided . . HET Link to ClinVar
682734 659490 Benign not_provided . . HET Link to ClinVar
166634 177459 Benign not_specified 0.5437 0.65815 HET Link to ClinVar
166635 177460 Benign Acyl-CoA_dehydrogenase_family,_member_9,_deficiency_of
not_specified
not_provided		 0.4018 0.54333 HET Link to ClinVar
673569 659496 Benign not_provided . . HET Link to ClinVar
677923 659587 Benign not_provided . . HET Link to ClinVar
677924 659506 Benign not_provided . . HET Link to ClinVar
166636 177461 Benign Acyl-CoA_dehydrogenase_family,_member_9,_deficiency_of
not_specified
not_provided		 0.37515 0.51817 HET Link to ClinVar
677925 659494 Benign not_provided . . HET Link to ClinVar
343203 292606 Benign Acyl-CoA_dehydrogenase_family,_member_9,_deficiency_of
not_provided		 0.25331 0.3103 HET Link to ClinVar
262267 250914 Benign not_specified 0.08051 0.1228 HOM Link to ClinVar
194901 192063 Benign Cranioectodermal_dysplasia_1
Cranioectodermal_dysplasia
not_specified		 . 0.53654 HOM Link to ClinVar
256383 250919 Benign not_specified
Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Dominant/Recessive		 0.2869 0.52836 HOM Link to ClinVar
343286 292690 Benign Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Dominant/Recessive		 . . HET Link to ClinVar
343302 288745 Benign Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Dominant/Recessive		 . 0.52097 HOM Link to ClinVar
343303 289494 Benign Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Dominant/Recessive		 . 0.10963 HOM Link to ClinVar
260113 250924 Benign not_specified 0.9868 0.95767 HOM Link to ClinVar
260116 250926 Benign not_specified 0.98699 0.95807 HOM Link to ClinVar
260117 250927 Benign not_specified 0.98673 0.95807 HOM Link to ClinVar
678513 659606 Benign not_provided . . HET Link to ClinVar
678512 659515 Benign not_provided . . HET Link to ClinVar
801355 789736 Benign not_provided . . HOM Link to ClinVar
667679 659519 Benign not_provided . . HET Link to ClinVar
343422 288854 Benign Atransferrinemia 0.62293 0.66613 HET Link to ClinVar
12617 27656 Benign Alzheimer_disease,_susceptibility_to
Transferrin_variant_c1/c2
Atransferrinemia		 0.16016 0.15635 HET Link to ClinVar
128712 134161 Benign not_specified 0.17276 0.17193 HET Link to ClinVar
128706 134155 Benign not_specified 0.29862 0.27676 HET Link to ClinVar
210701 207051 Benign not_specified . . HET Link to ClinVar
683365 659538 Benign not_provided . . HET Link to ClinVar
93231 99138 Benign not_specified
not_provided		 0.16078 0.10903 HET Link to ClinVar
256376 250958 Benign not_specified 0.30454 0.28634 HET Link to ClinVar
683376 659731 Benign not_provided . . HET Link to ClinVar
683379 659636 Benign not_provided . . HET Link to ClinVar
403245 389543 Benign not_specified 0.71418 0.70208 HOM Link to ClinVar
682637 659739 Benign not_provided . . HET Link to ClinVar
678136 659742 Benign not_provided . . HET Link to ClinVar
678010 659550 Benign not_provided . . HOM Link to ClinVar
93669 99572 Benign/Likely_benign Seckel_syndrome
not_specified
not_provided		 0.86461 0.91633 HOM Link to ClinVar
136470 140173 Benign/Likely_benign Seckel_syndrome
not_specified
not_provided		 0.13279 0.10224 HET Link to ClinVar
157998 167845 Likely_benign not_specified 0.05942 . HET Link to ClinVar
157997 167844 Likely_benign not_specified . . HOM Link to ClinVar
678106 659595 Benign not_provided . . HOM Link to ClinVar
678204 659596 Benign not_provided . . HET Link to ClinVar
157992 167839 Benign/Likely_benign Seckel_syndrome
not_specified
not_provided		 0.36398 0.3125 HET Link to ClinVar
670441 659580 Benign not_provided . . HOM Link to ClinVar
668021 659675 Benign not_provided . . HET Link to ClinVar
678105 659793 Benign not_provided . . HOM Link to ClinVar
678104 659797 Benign not_provided . . HOM Link to ClinVar
157979 167826 Benign not_specified
not_provided		 0.13738 0.11721 HET Link to ClinVar
668020 659603 Benign not_provided . . HOM Link to ClinVar
670440 659681 Benign not_provided . . HOM Link to ClinVar
670439 659804 Benign not_provided . . HET Link to ClinVar
678202 659688 Benign not_provided . . HET Link to ClinVar
157967 167814 Likely_benign not_specified 0.07452 0.11222 HET Link to ClinVar
157966 167813 Benign Seckel_syndrome
not_specified		 0.3516 0.3107 HET Link to ClinVar
157965 167812 Benign/Likely_benign Seckel_syndrome
not_specified
not_provided		 0.55293 0.59804 HOM Link to ClinVar
668019 659605 Benign not_provided . . HOM Link to ClinVar
680033 659690 Benign not_provided . . HET Link to ClinVar
680032 659691 Benign not_provided . . HET Link to ClinVar
93668 99571 Benign/Likely_benign Seckel_syndrome
not_specified		 0.55398 0.59744 HOM Link to ClinVar
379454 368245 Benign not_specified 0.28824 0.34066 HET Link to ClinVar
343635 289787 Likely_benign Bruck_Syndrome . 0.12041 HET Link to ClinVar
343643 289052 Benign Bruck_Syndrome 0.50306 0.51118 HET Link to ClinVar
674931 659584 Benign not_provided . . HET Link to ClinVar
684306 659585 Benign not_provided . . HOM Link to ClinVar
684304 659592 Benign not_provided . . HOM Link to ClinVar
674929 659594 Benign not_provided . . HET Link to ClinVar
263073 250976 Benign Bruck_Syndrome
Bruck_syndrome_2
not_specified		 0.2709 0.2484 HET Link to ClinVar
674928 659805 Benign not_provided . . HET Link to ClinVar
674927 659811 Benign not_provided . . HET Link to ClinVar
674926 659718 Benign not_provided . . HET Link to ClinVar
684301 659719 Benign not_provided . . HOM Link to ClinVar
674925 659611 Benign not_provided . . HET Link to ClinVar
684290 659614 Benign not_provided . . HOM Link to ClinVar
684289 659816 Benign not_provided . . HOM Link to ClinVar
671512 659615 Benign not_provided . . HET Link to ClinVar
674924 659599 Benign not_provided . . HET Link to ClinVar
674923 659600 Benign not_provided . . HET Link to ClinVar
674922 659610 Benign not_provided . . HET Link to ClinVar
684286 659818 Benign not_provided . . HOM Link to ClinVar
263074 250977 Benign Bruck_Syndrome
Bruck_syndrome_2
not_specified		 0.76661 0.78175 HOM Link to ClinVar
674921 659733 Benign not_provided . . HET Link to ClinVar
256759 250978 Benign Renal_dysplasia
not_specified		 0.48371 0.45807 HET Link to ClinVar
256758 250979 Benign Renal_dysplasia
not_specified		 0.06553 0.10683 HET Link to ClinVar
343683 293169 Likely_benign Renal_dysplasia . 0.05771 HET Link to ClinVar
343686 289075 Benign Renal_dysplasia . 0.67073 HET Link to ClinVar
676130 659747 Benign not_provided . . HOM Link to ClinVar
379980 368262 Benign not_specified
not_provided		 0.31249 0.30132 HOM Link to ClinVar
163668 173759 Benign Hermansky-Pudlak_syndrome
not_specified		 0.45662 0.49022 HET Link to ClinVar
343736 289092 Likely_benign Hermansky-Pudlak_syndrome
Deficiency_of_ferroxidase		 . 0.02296 HET Link to ClinVar
284863 269100 Conflicting_interpretations_of_pathogenicity not_specified
not_provided		 0.00381 0.0024 HET Link to ClinVar
198992 196152 Benign not_specified 0.91649 0.86222 HOM Link to ClinVar
343801 289917 Likely_benign Retinitis_pigmentosa-deafness_syndrome
Retinitis_Pigmentosa,_Dominant		 0.07225 0.15475 HET Link to ClinVar
343804 289139 Benign Retinitis_pigmentosa-deafness_syndrome
Retinitis_Pigmentosa,_Dominant		 0.60375 0.77776 HOM Link to ClinVar
343805 289140 Benign Retinitis_pigmentosa-deafness_syndrome
Retinitis_Pigmentosa,_Dominant		 0.62928 0.77676 HOM Link to ClinVar
678799 659832 Benign not_provided . . HET Link to ClinVar
672425 659843 Benign not_provided . . HET Link to ClinVar
678775 659625 Benign not_provided . . HOM Link to ClinVar
678774 659617 Benign not_provided . . HOM Link to ClinVar
343818 289938 Likely_benign Retinitis_pigmentosa-deafness_syndrome
Retinitis_Pigmentosa,_Dominant		 0.55 0.46925 HOM Link to ClinVar
261633 250982 Benign not_specified 0.8703 0.91154 HOM Link to ClinVar
774172 697905 Benign not_provided . . HET Link to ClinVar
343890 293068 Benign Spastic_paraplegia,_autosomal_dominant . 0.48942 HOM Link to ClinVar
669743 659759 Benign not_provided . . HET Link to ClinVar
343919 293119 Benign Combined_oxidative_phosphorylation_deficiency
not_provided		 0.63018 0.58307 HET Link to ClinVar
343925 289259 Benign Combined_oxidative_phosphorylation_deficiency_1
Combined_oxidative_phosphorylation_deficiency
not_provided		 0.54671 0.58327 HET Link to ClinVar
669751 659647 Benign not_provided . . HET Link to ClinVar
669753 659894 Benign not_provided . . HET Link to ClinVar
343938 290043 Benign Combined_oxidative_phosphorylation_deficiency
not_provided		 0.3657 0.40915 HET Link to ClinVar
343940 293575 Benign Combined_oxidative_phosphorylation_deficiency . 0.58327 HET Link to ClinVar
343946 293593 Benign Combined_oxidative_phosphorylation_deficiency . 0.40915 HET Link to ClinVar
215529 212292 Conflicting_interpretations_of_pathogenicity Jeune_thoracic_dystrophy
not_specified
not_provided		 . . HET Link to ClinVar
344048 290170 Benign Sucrase-isomaltase_deficiency . 0.60863 HOM Link to ClinVar
344054 293693 Benign Sucrase-isomaltase_deficiency 0.61376 0.61901 HOM Link to ClinVar
344059 290175 Benign Sucrase-isomaltase_deficiency 0.61384 0.61721 HOM Link to ClinVar
344065 289400 Benign Sucrase-isomaltase_deficiency 0.61353 0.61601 HOM Link to ClinVar
344073 289414 Benign Sucrase-isomaltase_deficiency . . HOM Link to ClinVar
344079 289421 Benign Deficiency_of_butyrylcholine_esterase . . HET Link to ClinVar
13220 28259 Likely_benign Butyrylcholinesterase_activity
Deficiency_of_butyrylcholine_esterase		 0.18912 0.15855 HET Link to ClinVar
590668 581313 Benign not_specified . 0.28594 HET Link to ClinVar
344118 293751 Benign Encephalopathy,_familial,_with_neuroserpin_inclusion_bodies 0.09793 0.11422 HET Link to ClinVar
344120 290239 Benign Encephalopathy,_familial,_with_neuroserpin_inclusion_bodies 0.09799 0.11422 HET Link to ClinVar
344130 293763 Benign Encephalopathy,_familial,_with_neuroserpin_inclusion_bodies 0.09846 0.11502 HET Link to ClinVar
344137 290253 Benign Fanconi-Bickel_syndrome . 0.1859 HET Link to ClinVar
344138 293768 Benign Fanconi-Bickel_syndrome . 0.20068 HET Link to ClinVar
130348 135795 Benign Fanconi-Bickel_syndrome
not_specified
not_provided		 . 0.3726 HET Link to ClinVar
255900 251003 Benign Fanconi-Bickel_syndrome
not_specified
not_provided		 0.15014 0.19928 HET Link to ClinVar
130349 135796 Benign Fanconi-Bickel_syndrome
not_specified
not_provided		 0.15396 0.21526 HET Link to ClinVar
344182 293372 Benign Short_stature,_idiopathic,_autosomal . 0.8143 HET Link to ClinVar
344186 289521 Benign Short_stature,_idiopathic,_autosomal . 0.58866 HET Link to ClinVar
344196 290310 Benign Short_stature,_idiopathic,_autosomal . 0.58886 HET Link to ClinVar
344197 293388 Benign Short_stature,_idiopathic,_autosomal . 0.81909 HET Link to ClinVar
263109 251010 Benign Short_stature,_idiopathic,_autosomal
not_specified		 0.65548 0.54014 HET Link to ClinVar
698146 686364 Benign not_provided . . HET Link to ClinVar
344204 289538 Uncertain_significance Spermatogenic_Failure 0.02006 0.00938 HET Link to ClinVar
344216 293864 Likely_benign Spermatogenic_Failure 0.15818 0.17153 HET Link to ClinVar
259957 251012 Benign not_specified 0.5614 0.58467 HET Link to ClinVar
223907 225635 Likely_benign Hereditary_cancer-predisposing_syndrome . 0.00819 HET Link to ClinVar
344243 293875 Uncertain_significance Primary_ciliary_dyskinesia . 0.00419 HET Link to ClinVar
162839 173902 Benign/Likely_benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_14
not_specified
not_provided		 0.17643 0.13139 HET Link to ClinVar
344267 289573 Benign/Likely_benign Primary_ciliary_dyskinesia
not_specified		 . . HET Link to ClinVar
162842 173763 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_14
not_specified
not_provided		 . 0.31889 HET Link to ClinVar
684210 659654 Benign not_provided . . HET Link to ClinVar
684209 659897 Benign not_provided . . HOM Link to ClinVar
684207 659663 Benign not_provided . . HET Link to ClinVar
684206 659772 Benign not_provided . . HET Link to ClinVar
95941 101837 Benign 3-MCC_Deficiency
3_Methylcrotonyl-CoA_carboxylase_1_deficiency
not_specified		 0.62485 0.46486 HET Link to ClinVar
684205 659773 Benign not_provided . . HOM Link to ClinVar
684202 659668 Benign not_provided . . HET Link to ClinVar
684201 659679 Benign not_provided . . HET Link to ClinVar
684200 659778 Benign not_provided . . HET Link to ClinVar
684198 659903 Benign not_provided . . HOM Link to ClinVar
684197 659783 Benign not_provided . . HOM Link to ClinVar
95943 101839 Benign 3-MCC_Deficiency
not_specified		 0.92974 0.91554 HOM Link to ClinVar
802031 790368 Benign 3_Methylcrotonyl-CoA_carboxylase_1_deficiency . . HET Link to ClinVar
344318 289643 Benign 3-MCC_Deficiency . 0.54493 HOM Link to ClinVar
94381 100281 Benign Leukoencephalopathy_with_vanishing_white_matter
not_specified
not_provided		 0.34983 0.38998 HET Link to ClinVar
344343 289663 Benign Leukoencephalopathy_with_vanishing_white_matter . . HET Link to ClinVar
518344 508785 Benign Parkinson_disease_18 0.75539 0.78235 HET Link to ClinVar
518346 508787 Benign Parkinson_disease_18 0.75821 0.78694 HET Link to ClinVar
217776 214425 Uncertain_significance Leukoencephalopathy_with_ataxia . 0.46126 HET Link to ClinVar
344369 289675 Benign Thrombocythemia_1 . 0.64058 HET Link to ClinVar
344376 290439 Benign Thrombocythemia_1 . 0.50679 HET Link to ClinVar
595004 586066 Likely_benign not_specified 0.00019 . HET Link to ClinVar
2435 17474 risk_factor Diabetes_mellitus_type_2 . 0.38898 HET Link to ClinVar
16045 31084 Benign Leanness,_susceptibility_to . 0.67732 HET Link to ClinVar
16043 31082 Benign Leanness,_susceptibility_to 0.68304 0.73542 HET Link to ClinVar
16044 31083 Benign Leanness,_susceptibility_to 0.67668 0.71366 HET Link to ClinVar
403021 389540 Benign not_specified . 0.02416 HET Link to ClinVar
791576 708725 Benign not_provided . . HET Link to ClinVar
344379 294093 Benign Ectrodactyly
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
TP63-Related_Spectrum_Disorders		 . 0.48762 HET Link to ClinVar
802034 790371 Likely_benign Ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome_3 . . HET Link to ClinVar
259132 251052 Benign not_specified 0.12542 0.05851 HET Link to ClinVar
259133 251053 Benign not_specified 0.13255 0.21985 HET Link to ClinVar
259124 251056 Benign not_specified 0.23107 0.3123 HET Link to ClinVar
259128 251059 Benign not_specified . 0.69888 HOM Link to ClinVar
259127 251060 Benign not_specified 0.72317 0.69948 HOM Link to ClinVar
344431 293560 Benign Ectrodactyly
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
TP63-Related_Spectrum_Disorders		 . 0.19289 HET Link to ClinVar
369418 353647 Benign Ectrodactyly
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
TP63-Related_Spectrum_Disorders		 . 0.15156 HET Link to ClinVar
677218 655531 Benign not_provided . . HET Link to ClinVar
195367 192528 Benign not_specified . 0.8111 HET Link to ClinVar
260004 251068 Benign Primary_hypomagnesemia
not_specified		 0.19493 0.11721 HOM Link to ClinVar
344463 293610 Likely_benign Primary_hypomagnesemia . 0.11462 HOM Link to ClinVar
344474 293624 Benign Primary_hypomagnesemia . 0.79613 HOM Link to ClinVar
95727 101624 Benign Dominant_hereditary_optic_atrophy
not_specified
Optic_Atrophy,_Dominant
not_provided		 0.46827 0.46805 HET Link to ClinVar
667770 659798 Benign not_provided . . HET Link to ClinVar
667773 659917 Benign not_provided . . HET Link to ClinVar
95728 101625 Benign not_specified 0.42302 0.39237 HET Link to ClinVar
683260 659658 Benign not_provided . . HET Link to ClinVar
95731 101628 Benign Dominant_hereditary_optic_atrophy
not_specified
Optic_Atrophy,_Dominant
not_provided		 0.87176 0.92292 HOM Link to ClinVar
95730 101627 Benign not_specified 0.42246 0.38978 HET Link to ClinVar
683264 659826 Benign not_provided . . HET Link to ClinVar
667772 659710 Benign not_provided . . HET Link to ClinVar
676244 659829 Benign not_provided . . HET Link to ClinVar
95717 101614 Benign Dominant_hereditary_optic_atrophy
not_specified
Optic_Atrophy,_Dominant
not_provided		 0.46682 0.46645 HET Link to ClinVar
667792 659833 Benign not_provided . . HET Link to ClinVar
673477 659660 Benign not_provided . . HET Link to ClinVar
676245 659665 Benign not_provided . . HET Link to ClinVar
344491 294191 Benign Optic_Atrophy,_Dominant . 0.64117 HOM Link to ClinVar
344494 289738 Benign Optic_Atrophy,_Dominant . 0.91374 HOM Link to ClinVar
344500 289758 Benign Optic_Atrophy,_Dominant . 0.59585 HOM Link to ClinVar
344501 294193 Benign Optic_Atrophy,_Dominant . 0.69629 HOM Link to ClinVar
344506 290543 Benign Optic_Atrophy,_Dominant . 0.4389 HET Link to ClinVar
344512 289778 Benign Optic_Atrophy,_Dominant . 0.33786 HET Link to ClinVar
344513 289784 Benign Optic_Atrophy,_Dominant . 0.4383 HET Link to ClinVar
259877 251074 Benign not_specified 0.18972 0.11841 HET Link to ClinVar
259873 251078 Benign not_specified 0.11201 0.08307 HET Link to ClinVar
403381 389582 Benign not_specified 0.54049 0.40236 HET Link to ClinVar
777589 698002 Benign not_provided . . HET Link to ClinVar
772758 698538 Likely_benign not_provided . . HET Link to ClinVar
476358 453480 Benign Mental_retardation,_autosomal_recessive_53 0.02207 0.02057 HET Link to ClinVar
167436 177920 Benign Retinitis_pigmentosa
not_specified		 0.99974 0.999 HOM Link to ClinVar
167438 177922 Benign not_specified 4e-05 0.01597 HET Link to ClinVar
167439 177923 Benign/Likely_benign not_specified
Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Recessive		 3e-05 0.01597 HET Link to ClinVar
349400 260350 Benign Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Recessive		 0.61462 0.54792 HOM Link to ClinVar
349401 293981 Benign Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Recessive		 0.02641 0.02875 HET Link to ClinVar
92647 98554 Benign Mucopolysaccharidosis_type_I
not_specified
not_provided		 0.4882 0.39437 HET Link to ClinVar
92651 98558 Benign Mucopolysaccharidosis_type_I
not_specified
not_provided		 0.91367 0.89197 HET Link to ClinVar
710625 721126 Likely_benign not_provided . . HET Link to ClinVar
680617 660380 Benign not_provided . . HET Link to ClinVar
680176 660232 Benign not_provided . . HOM Link to ClinVar
379389 367926 Benign not_specified . 0.99641 HOM Link to ClinVar
667904 660305 Benign not_provided . . HOM Link to ClinVar
680177 660600 Benign not_provided . . HOM Link to ClinVar
680178 660237 Benign not_provided . . HOM Link to ClinVar
258894 251436 Benign Fibrous_dysplasia_of_jaw
not_specified		 0.75377 0.78754 HET Link to ClinVar
258898 251440 Benign Fibrous_dysplasia_of_jaw
not_specified		 . 0.46625 HET Link to ClinVar
348676 298317 Benign Fibrous_dysplasia_of_jaw . . HET Link to ClinVar
18274 33313 drug_response Hypertension,_salt-sensitive_essential,_susceptibility_to
furosemide_and_spironolactone_response_-_Efficacy		 0.20187 0.20847 HET Link to ClinVar
679323 660442 Benign not_provided . . HET Link to ClinVar
671280 660277 Benign not_provided . . HET Link to ClinVar
262864 251446 Benign not_specified
not_provided		 . 0.13878 HET Link to ClinVar
262863 251448 Benign not_specified 0.12014 0.09704 HET Link to ClinVar
196596 193757 Benign not_specified 0.99999 1 HOM Link to ClinVar
679325 660283 Benign not_provided . . HET Link to ClinVar
681771 660384 Benign not_provided . . HET Link to ClinVar
679326 660465 Benign not_provided . . HET Link to ClinVar
679327 660656 Benign not_provided . . HET Link to ClinVar
262878 251459 Benign not_specified
not_provided		 0.75891 0.78175 HET Link to ClinVar
681772 660286 Likely_benign not_provided . . HET Link to ClinVar
668119 660289 Benign not_provided . . HET Link to ClinVar
679329 660291 Benign not_provided . . HET Link to ClinVar
673974 660292 Benign not_provided . . HET Link to ClinVar
681773 660297 Benign not_provided . . HET Link to ClinVar
681774 660303 Benign not_provided . . HET Link to ClinVar
262889 251466 Benign not_specified . . HET Link to ClinVar
802050 790475 Benign Hypoplastic_enamel-onycholysis-hypohidrosis_syndrome . . HET Link to ClinVar
348976 293698 Benign Ellis-van_Creveld_syndrome . 0.54094 HET Link to ClinVar
667873 660455 Benign not_provided . . HOM Link to ClinVar
195540 192701 Benign/Likely_benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.0261 0.00958 HET Link to ClinVar
667872 660320 Benign not_provided . . HET Link to ClinVar
670023 660680 Benign not_provided . . HET Link to ClinVar
262614 251508 Benign not_specified 0.34318 0.42612 HET Link to ClinVar
670010 660681 Benign not_provided . . HET Link to ClinVar
262613 251509 Benign not_specified 0.05455 0.08806 HET Link to ClinVar
262610 251512 Benign Ellis-van_Creveld_syndrome
not_specified		 0.37059 0.51757 HET Link to ClinVar
671964 660324 Benign not_provided . . HET Link to ClinVar
671963 660515 Benign not_provided . . HET Link to ClinVar
669999 660464 Benign not_provided . . HET Link to ClinVar
674988 660519 Benign not_provided . . HET Link to ClinVar
193763 190926 Benign Ellis-van_Creveld_syndrome
not_specified		 0.19783 0.23003 HOM Link to ClinVar
675155 660525 Benign not_provided . . HET Link to ClinVar
669996 660526 Benign not_provided . . HET Link to ClinVar
667871 660466 Benign not_provided . . HET Link to ClinVar
667870 660696 Benign not_provided . . HET Link to ClinVar
667869 660340 Benign not_provided . . HET Link to ClinVar
667868 660534 Benign not_provided . . HET Link to ClinVar
667866 660342 Benign not_provided . . HET Link to ClinVar
667865 660345 Benign not_provided . . HET Link to ClinVar
669992 660717 Benign not_provided . . HET Link to ClinVar
669986 660719 Benign not_provided . . HET Link to ClinVar
667864 660494 Benign not_provided . . HET Link to ClinVar
667862 660720 Benign not_provided . . HOM Link to ClinVar
667861 660512 Benign not_provided . . HOM Link to ClinVar
667845 660513 Benign not_provided . . HET Link to ClinVar
667844 660349 Benign not_provided . . HOM Link to ClinVar
669975 660560 Benign not_provided . . HET Link to ClinVar
262618 251523 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.1651 0.21865 HET Link to ClinVar
439668 433536 Benign not_specified . 0.1869 HET Link to ClinVar
669932 660568 Benign not_provided . . HET Link to ClinVar
675084 660350 Benign not_provided . . HET Link to ClinVar
198281 195442 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.94562 0.96665 HOM Link to ClinVar
198282 195443 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.79506 0.74481 HOM Link to ClinVar
667834 660725 Benign not_provided . . HOM Link to ClinVar
262782 251530 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.58425 0.59006 HOM Link to ClinVar
262784 251533 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.62946 0.59305 HOM Link to ClinVar
667835 660726 Benign not_provided . . HOM Link to ClinVar
262786 251534 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.41769 0.47145 HET Link to ClinVar
262761 251536 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.49199 0.58287 HET Link to ClinVar
262762 251537 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.29247 0.21745 HET Link to ClinVar
669934 660520 Benign not_provided . . HET Link to ClinVar
669948 660571 Benign not_provided . . HET Link to ClinVar
667837 660361 Benign not_provided . . HOM Link to ClinVar
262764 251539 Benign not_specified 0.39999 0.32149 HET Link to ClinVar
667838 660364 Benign not_provided . . HET Link to ClinVar
669950 660582 Benign not_provided . . HET Link to ClinVar
167044 177093 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 . 0.84465 HOM Link to ClinVar
669954 660583 Benign not_provided . . HET Link to ClinVar
262768 251543 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 . 0.30152 HET Link to ClinVar
667841 660528 Benign not_provided . . HET Link to ClinVar
262769 251544 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 . 0.33387 HET Link to ClinVar
667842 660371 Benign not_provided . . HOM Link to ClinVar
669960 660590 Benign not_provided . . HET Link to ClinVar
669965 660548 Benign not_provided . . HET Link to ClinVar
262773 251547 Benign not_specified 0.36388 0.33986 HET Link to ClinVar
262774 251548 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.72701 0.6905 HET Link to ClinVar
262775 251549 Benign/Likely_benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 . . HET Link to ClinVar
671275 660615 Benign not_provided . . HET Link to ClinVar
262778 251551 Benign not_specified 0.74536 0.6907 HET Link to ClinVar
262759 251552 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified		 0.60994 0.53375 HET Link to ClinVar
349236 293865 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome		 . 0.4369 HET Link to ClinVar
349258 299022 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome		 . . HET Link to ClinVar
349266 299044 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome		 . 0.27017 HET Link to ClinVar
349272 299053 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome		 . 0.72304 HET Link to ClinVar
349276 299061 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome		 . 0.38758 HET Link to ClinVar
349280 299063 Benign Ellis-van_Creveld_syndrome
Curry-Hall_syndrome		 . 0.38518 HET Link to ClinVar
684340 660618 Benign not_provided . . HOM Link to ClinVar
676437 660622 Benign not_provided . . HOM Link to ClinVar
684341 660387 Benign not_provided . . HOM Link to ClinVar
670287 660744 Benign not_provided . . HOM Link to ClinVar
670288 660748 Benign not_provided . . HOM Link to ClinVar
670289 660393 Benign not_provided . . HOM Link to ClinVar
45459 54626 Benign not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 0.65126 0.71506 HOM Link to ClinVar
4527 19566 Benign Diabetes_mellitus,_noninsulin-dependent,_association_with
not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 0.65546 0.72883 HOM Link to ClinVar
684342 660576 Benign not_provided . . HOM Link to ClinVar
670290 660766 Benign not_provided . . HOM Link to ClinVar
670298 660578 Benign not_provided . . HOM Link to ClinVar
45460 54627 Benign not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 0.7212 0.75639 HOM Link to ClinVar
670299 660768 Benign not_provided . . HOM Link to ClinVar
670300 660632 Benign not_provided . . HOM Link to ClinVar
684344 660771 Benign not_provided . . HOM Link to ClinVar
684346 660772 Benign not_provided . . HOM Link to ClinVar
684347 660584 Benign not_provided . . HOM Link to ClinVar
684348 660634 Benign not_provided . . HOM Link to ClinVar
684349 660395 Benign not_provided . . HOM Link to ClinVar
4528 19567 Benign Diabetes_mellitus,_noninsulin-dependent,_association_with
Diabetes_mellitus_AND_insipidus_with_optic_atrophy_AND_deafness
not_provided		 . 0.72125 HOM Link to ClinVar
669596 660398 Benign not_provided . . HOM Link to ClinVar
684351 660413 Benign not_provided . . HOM Link to ClinVar
673197 660780 Benign not_provided . . HET Link to ClinVar
670301 660418 Benign not_provided . . HOM Link to ClinVar
670302 660598 Benign not_provided . . HOM Link to ClinVar
45463 54630 Benign not_specified
WFS1-Related_Spectrum_Disorders		 0.7818 0.88439 HOM Link to ClinVar
45431 54598 Benign not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 0.62452 0.64157 HOM Link to ClinVar
45437 54604 Benign not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 0.6595 0.72943 HOM Link to ClinVar
45442 54609 Benign Diabetes_mellitus_AND_insipidus_with_optic_atrophy_AND_deafness
not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 0.5367 0.46925 HOM Link to ClinVar
45455 54622 Benign not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.65316 HOM Link to ClinVar
45456 54623 Benign not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.77995 HOM Link to ClinVar
349332 299132 Benign not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 0.72475 0.78375 HOM Link to ClinVar
349335 295328 Benign WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.84804 HOM Link to ClinVar
349337 293945 Benign WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.60663 HOM Link to ClinVar
349354 299157 Benign WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.6262 HOM Link to ClinVar
349359 293961 Benign WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.64756 HOM Link to ClinVar
669515 655616 Benign not_provided . . HET Link to ClinVar
350207 296326 Benign Familial_renal_hypouricemia . 0.27117 HOM Link to ClinVar
350213 300090 Benign Familial_renal_hypouricemia 0.24595 0.29413 HET Link to ClinVar
350235 300158 Benign Familial_renal_hypouricemia . 0.7524 HOM Link to ClinVar
4594 19633 association Uric_acid_concentration,_serum,_quantitative_trait_locus_2 . 0.85763 HOM Link to ClinVar
350237 300168 Benign Familial_renal_hypouricemia . 0.64217 HOM Link to ClinVar
350240 300170 Benign Familial_renal_hypouricemia 0.80153 0.82069 HOM Link to ClinVar
347006 296520 Benign Familial_renal_hypouricemia 0.51034 0.40735 HOM Link to ClinVar
402544 389584 Benign not_specified 0.99764 0.99002 HOM Link to ClinVar
402545 389605 Benign not_specified 0.04387 0.02596 HET Link to ClinVar
668061 660189 Benign not_provided . . HOM Link to ClinVar
126233 131765 Benign not_specified 0.8602 0.85024 HOM Link to ClinVar
126230 131762 Benign not_specified 0.74941 0.7482 HET Link to ClinVar
126231 131763 Benign not_specified 0.59678 0.48602 HET Link to ClinVar
126236 131768 Benign Joubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided		 0.71218 0.66254 HOM Link to ClinVar
126239 131771 Benign not_specified . 0.66234 HOM Link to ClinVar
126243 131775 Benign not_specified 0.98751 0.94888 HOM Link to ClinVar
257382 251363 Benign/Likely_benign Joubert_syndrome
Meckel-Gruber_syndrome
not_specified		 0.60532 0.56689 HOM Link to ClinVar
95334 101233 Benign not_specified
Stargardt_Disease,_Dominant
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Recessive
Retinal_Macular_Dystrophy
not_provided		 0.36079 0.44689 HOM Link to ClinVar
677210 660365 Benign not_provided . . HOM Link to ClinVar
677208 660207 Benign not_provided . . HOM Link to ClinVar
259907 251366 Benign/Likely_benign not_specified
Stargardt_Disease,_Dominant
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Recessive
Retinal_Macular_Dystrophy
not_provided		 0.17357 0.13818 HET Link to ClinVar
677178 660370 Benign not_provided . . HET Link to ClinVar
348137 297721 Benign BH4-Deficient_Hyperphenylalaninemia . 0.626 HET Link to ClinVar
348138 294253 Benign BH4-Deficient_Hyperphenylalaninemia . 0.65955 HET Link to ClinVar
348141 297793 Benign BH4-Deficient_Hyperphenylalaninemia . 0.65855 HET Link to ClinVar
348142 292890 Benign BH4-Deficient_Hyperphenylalaninemia . 0.65915 HET Link to ClinVar
348150 292897 Uncertain_significance BH4-Deficient_Hyperphenylalaninemia . . HET Link to ClinVar
348163 297814 Benign BH4-Deficient_Hyperphenylalaninemia 0.50567 0.3756 HET Link to ClinVar
348165 292915 Likely_benign BH4-Deficient_Hyperphenylalaninemia . 0.18191 HET Link to ClinVar
784037 779201 Benign not_provided . . HET Link to ClinVar
348522 293254 Likely_benign Pontoneocerebellar_hypoplasia . 0.11582 HET Link to ClinVar
130288 135735 Benign/Likely_benign Pontoneocerebellar_hypoplasia
not_specified		 0.06679 0.11222 HET Link to ClinVar
403456 389591 Benign not_specified 0.86426 0.91074 HOM Link to ClinVar
444124 437747 Benign Diabetes_mellitus_type_2 . 0.47844 HET Link to ClinVar
444136 437748 Benign Diabetes_mellitus_type_2 . 0.72923 HET Link to ClinVar
444128 437751 Benign Diabetes_mellitus_type_2 . 0.55431 HET Link to ClinVar
444125 437755 Benign Diabetes_mellitus_type_2 . 0.46526 HET Link to ClinVar
444126 437757 Benign Diabetes_mellitus_type_2 . 0.59525 HET Link to ClinVar
444135 437758 Benign Diabetes_mellitus_type_2 . 0.53614 HET Link to ClinVar
8360 23399 protective Leprosy,_protection_against 0.53892 0.80052 HET Link to ClinVar
8361 23400 risk_factor Leprosy_5 0.39214 0.57468 HET Link to ClinVar
287684 271921 Conflicting_interpretations_of_pathogenicity Jeune_thoracic_dystrophy
Cranioectodermal_dysplasia
not_specified
not_provided		 0.0021 0.0006 HET Link to ClinVar
261862 251483 Benign not_specified 0.37105 0.28115 HET Link to ClinVar
811530 799356 Benign not_specified . . HOM Link to ClinVar
348762 298475 Benign Jeune_thoracic_dystrophy
Cranioectodermal_dysplasia		 . 0.48862 HOM Link to ClinVar
669810 660484 Benign not_provided . . HET Link to ClinVar
670681 660399 Benign not_provided . . HET Link to ClinVar
138117 141820 Benign not_specified 0.36545 0.33686 HET Link to ClinVar
683095 660307 Benign not_provided . . HET Link to ClinVar
683097 660308 Benign not_provided . . HET Link to ClinVar
683116 660404 Benign not_provided . . HET Link to ClinVar
674123 660406 Benign not_provided . . HET Link to ClinVar
674124 660309 Benign not_provided . . HET Link to ClinVar
674137 660414 Benign not_provided . . HET Link to ClinVar
670682 660431 Benign not_provided . . HET Link to ClinVar
12298 27337 Benign Parkinson_disease_5
Parkinson_Disease,_Dominant		 0.35021 0.25399 HET Link to ClinVar
348787 298516 Benign Neuroblastoma
Congenital_central_hypoventilation		 . 0.42432 HET Link to ClinVar
348788 294839 Benign Neuroblastoma
Congenital_central_hypoventilation		 . 0.05232 HET Link to ClinVar
43888 53057 Benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.85503 HET Link to ClinVar
348826 298554 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.53614 HET Link to ClinVar
775217 698523 Likely_benign not_provided . . HET Link to ClinVar
348845 298617 Uncertain_significance Retinitis_Pigmentosa,_Recessive 0.01217 0.00519 HET Link to ClinVar
517097 500531 Benign not_specified . 0.11222 HET Link to ClinVar
178775 173814 Benign not_specified 0.59212 0.46665 HOM Link to ClinVar
259949 251495 Benign Gastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
not_specified		 0.98804 0.95767 HOM Link to ClinVar
259952 251498 Benign not_specified 0.80209 0.69908 HOM Link to ClinVar
259953 251499 Benign Gastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
not_specified		 0.99899 0.9972 HOM Link to ClinVar
348913 298643 Benign Gastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome		 . 0.99701 HOM Link to ClinVar
348921 298654 Likely_benign Gastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome		 . 0.03075 HET Link to ClinVar
348925 298660 Uncertain_significance Gastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome		 . . . Link to ClinVar
348930 294981 Benign Gastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome		 . 0.9972 HOM Link to ClinVar
348943 293573 Benign Gastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome		 . 0.98762 HOM Link to ClinVar
518355 508794 Benign Hemangioma,_capillary_infantile 0.99856 0.99681 HOM Link to ClinVar
134603 138342 not_provided not_specified 0.21983 0.21186 HET Link to ClinVar
134616 138355 not_provided not_specified 0.10893 0.15256 HET Link to ClinVar
349002 295041 Uncertain_significance Congenital_disorder_of_glycosylation . 0.00899 HET Link to ClinVar
676204 660677 Benign not_provided . . HOM Link to ClinVar
676206 660451 Benign not_provided . . HOM Link to ClinVar
349009 293625 Likely_benign Congenital_disorder_of_glycosylation . 0.26757 HOM Link to ClinVar
349019 293640 Likely_benign Congenital_disorder_of_glycosylation . 0.26757 HOM Link to ClinVar
349022 298694 Likely_benign Congenital_disorder_of_glycosylation . 0.26737 HOM Link to ClinVar
349024 298695 Benign Congenital_disorder_of_glycosylation . 0.6887 HOM Link to ClinVar
349033 298714 Likely_benign Congenital_disorder_of_glycosylation . 0.26917 HOM Link to ClinVar
349043 295072 Likely_benign Congenital_disorder_of_glycosylation . 0.26757 HOM Link to ClinVar
349047 293667 Benign Congenital_disorder_of_glycosylation . 0.75 HOM Link to ClinVar
193395 190559 Benign Congenital_disorder_of_glycosylation
not_specified		 0.77214 0.75519 HOM Link to ClinVar
349072 298767 Likely_benign Congenital_disorder_of_glycosylation . 0.20967 HOM Link to ClinVar
128696 134145 Benign not_specified 0.20946 0.13918 HET Link to ClinVar
349460 299265 Benign Isolated_GnRH_Deficiency . 0.98103 HOM Link to ClinVar
349468 299275 Likely_benign Isolated_GnRH_Deficiency . 0.46625 HOM Link to ClinVar
349475 295504 Likely_benign Isolated_GnRH_Deficiency . 0.44169 HOM Link to ClinVar
349477 299286 Likely_benign Isolated_GnRH_Deficiency . 0.46685 HOM Link to ClinVar
349478 295507 Likely_benign Isolated_GnRH_Deficiency . 0.46586 HOM Link to ClinVar
349482 299291 Likely_benign Isolated_GnRH_Deficiency . 0.46605 HOM Link to ClinVar
349483 299297 Likely_benign Isolated_GnRH_Deficiency . . HOM Link to ClinVar
225966 227750 drug_response oxazepam_response_-_Other
lorazepam_response_-_Other		 0.50239 0.54653 HOM Link to ClinVar
349489 299321 Benign Amelogenesis_Imperfecta,_Dominant . 0.23842 HET Link to ClinVar
349499 295533 Likely_benign Amelogenesis_Imperfecta,_Dominant 0.01385 0.03934 HET Link to ClinVar
349513 295535 Benign Amelogenesis_Imperfecta,_Dominant . 0.22624 HET Link to ClinVar
349520 299348 Benign Amelogenesis_Imperfecta,_Dominant . 0.24161 HET Link to ClinVar
349540 299360 Likely_benign Renal_tubular_acidosis,_proximal,_with_ocular_abnormalities_and_mental_retardation 0.04201 0.03514 HET Link to ClinVar
349565 295591 Benign Renal_tubular_acidosis,_proximal,_with_ocular_abnormalities_and_mental_retardation . 0.88818 HOM Link to ClinVar
349571 299410 Benign Renal_tubular_acidosis,_proximal,_with_ocular_abnormalities_and_mental_retardation . 0.28794 HET Link to ClinVar
349598 299412 Benign Renal_tubular_acidosis,_proximal,_with_ocular_abnormalities_and_mental_retardation . 0.62061 HOM Link to ClinVar
15986 31025 Benign GC1/GC2_POLYMORPHISM . 0.20787 HET Link to ClinVar
15987 31026 Benign GC1/GC2_POLYMORPHISM 0.5159 0.38159 HET Link to ClinVar
748886 749057 Benign not_provided . . HET Link to ClinVar
430719 424258 association Lip_and_oral_cavity_carcinoma 0.17092 0.17652 HET Link to ClinVar
349639 299444 Likely_benign Hyperthyroxinemia,_dysalbuminemic 0.53538 0.48343 HET Link to ClinVar
669877 660783 Benign not_provided . . HET Link to ClinVar
670734 655614 Benign not_provided . . HOM Link to ClinVar
772868 698634 Likely_benign not_provided . . HET Link to ClinVar
261821 251564 Benign Fraser_syndrome_1
not_specified		 0.45626 0.55152 HET Link to ClinVar
518357 508796 Benign Fraser_syndrome_1 0.27001 0.28774 HET Link to ClinVar
261808 251566 Benign Fraser_syndrome_1
not_specified		 0.97409 0.92213 HOM Link to ClinVar
194790 191953 Benign Fraser_syndrome_1
not_specified		 . . HET Link to ClinVar
261804 251568 Benign Fraser_syndrome_1
not_specified		 . 0.43431 HET Link to ClinVar
261813 251576 Benign Fraser_syndrome_1
not_specified		 0.99012 0.96765 HOM Link to ClinVar
349752 299519 Benign Fraser_syndrome_1 0.31196 0.3137 HOM Link to ClinVar
261814 251577 Benign Fraser_syndrome_1
not_specified		 0.98669 0.95607 HOM Link to ClinVar
261817 251580 Benign Fraser_syndrome_1
not_specified		 0.50863 0.59385 HET Link to ClinVar
261818 251582 Benign Fraser_syndrome_1
not_specified		 . 0.59165 HET Link to ClinVar
349790 295831 Benign Fraser_syndrome_1 0.3268 0.40455 HET Link to ClinVar
349802 299604 Likely_benign Fraser_syndrome_1 0.02057 0.01478 HET Link to ClinVar
349805 294360 Benign Fraser_syndrome_1 . . HET Link to ClinVar
261798 251588 Benign Fraser_syndrome_1
not_specified		 0.54709 0.51098 HET Link to ClinVar
261801 251590 Benign Fraser_syndrome_1
not_specified		 0.48842 0.51498 HET Link to ClinVar
261802 251591 Benign Fraser_syndrome_1
not_specified		 0.48842 0.51498 HET Link to ClinVar
547870 538370 Uncertain_significance Fraser_syndrome_1 0.01323 0.00779 HET Link to ClinVar
349829 299624 Benign Fraser_syndrome_1 . 0.20228 HET Link to ClinVar
349856 299659 Benign Fraser_syndrome_1 . 0.66174 HET Link to ClinVar
349861 295929 Benign Fraser_syndrome_1 . 0.66174 HET Link to ClinVar
349864 299682 Benign Fraser_syndrome_1 . 0.64038 HET Link to ClinVar
349866 299685 Benign Fraser_syndrome_1 . . HET Link to ClinVar
349874 295946 Benign Hyaline_fibromatosis_syndrome . 0.80272 HET Link to ClinVar
349882 294465 Benign Hyaline_fibromatosis_syndrome . 0.69728 HET Link to ClinVar
349890 294483 Benign Hyaline_fibromatosis_syndrome . 0.3772 HET Link to ClinVar
349897 294488 Likely_benign Hyaline_fibromatosis_syndrome . 0.14257 HET Link to ClinVar
128830 134279 Benign/Likely_benign Coenzyme_Q10_deficiency,_primary_1
not_specified
Coenzyme_Q10_deficiency,_primary
not_provided		 0.27879 0.21026 HET Link to ClinVar
683554 660668 Benign not_provided . . HET Link to ClinVar
128829 134278 Benign Coenzyme_Q10_deficiency,_primary_1
not_specified
Coenzyme_Q10_deficiency,_primary
not_provided		 0.73803 0.77816 HET Link to ClinVar
226000 227830 drug_response atorvastatin_response_-_Toxicity/ADR
hmg_coa_reductase_inhibitors_response_-_Toxicity/ADR
rosuvastatin_response_-_Toxicity/ADR		 . 0.66014 HET Link to ClinVar
683553 660443 Benign not_provided . . HET Link to ClinVar
683548 660446 Benign not_provided . . HET Link to ClinVar
128828 134277 Benign Coenzyme_Q10_deficiency,_primary_1
not_specified
Coenzyme_Q10_deficiency,_primary
not_provided		 0.72489 0.64976 HET Link to ClinVar
136978 140681 Benign/Likely_benign Coenzyme_Q10_deficiency,_primary_1
not_specified
not_provided		 . 0.00998 HET Link to ClinVar
349919 296014 Benign Epileptic_encephalopathy . 0.19429 HET Link to ClinVar
349928 299748 Benign Epileptic_encephalopathy . 0.45288 HET Link to ClinVar
349933 296030 Benign Epileptic_encephalopathy . 0.45268 HET Link to ClinVar
349939 296037 Benign Epileptic_encephalopathy . 0.21546 HET Link to ClinVar
349954 299820 Benign Epileptic_encephalopathy 0.65806 0.59345 HET Link to ClinVar
260356 251593 Benign not_specified 0.51617 0.47145 HOM Link to ClinVar
260355 251594 Benign not_specified 0.25855 0.21865 HOM Link to ClinVar
740806 749100 Likely_benign not_provided . . HET Link to ClinVar
260359 251597 Benign not_specified 0.62817 0.67432 HOM Link to ClinVar
260353 251599 Benign not_specified 0.79428 0.85543 HOM Link to ClinVar
598009 589070 Benign not_specified 0.18108 0.17232 HET Link to ClinVar
92795 98702 Benign/Likely_benign Polycystic_kidney_disease,_autosomal_dominant
Polycystic_kidney_disease_2
not_specified
not_provided		 0.06252 0.11442 HET Link to ClinVar
440143 432996 Benign Polycystic_kidney_disease_2 0.60393 0.69629 HOM Link to ClinVar
219985 221479 Benign/Likely_benign Polycystic_kidney_disease_2
not_specified
not_provided		 0.00481 0.00579 HET Link to ClinVar
350035 299900 Likely_benign Polycystic_kidney_disease,_autosomal_dominant . . HET Link to ClinVar
350037 296123 Likely_benign Polycystic_kidney_disease,_autosomal_dominant . 0.19309 HOM Link to ClinVar
350045 296126 Likely_benign Polycystic_kidney_disease,_autosomal_dominant . 0.09864 HET Link to ClinVar
30389 39346 drug_response allopurinol_response_-_Dosage,_Efficacy
Ovarian_Neoplasms
Uric_acid_concentration,_serum,_quantitative_trait_locus_1
Blood_group,_Junior_system
Gemcitabine_response
rosuvastatin_response_-_Efficacy		 0.11802 0.11941 HET Link to ClinVar
30386 39343 Affects,_association Uric_acid_concentration,_serum,_quantitative_trait_locus_1
Blood_group,_Junior_system		 0.10758 0.15755 HET Link to ClinVar
350093 299919 Benign Parkinson_Disease,_Dominant . 0.48423 HOM Link to ClinVar
350131 296235 Benign Brachydactyly
not_provided		 . 0.40415 HOM Link to ClinVar
350133 299987 Benign Brachydactyly . 0.59285 HOM Link to ClinVar
350135 300008 Uncertain_significance Brachydactyly . . HET Link to ClinVar
350147 300021 Benign Brachydactyly . 0.57927 HOM Link to ClinVar
350152 300020 Benign Brachydactyly . 0.59345 HOM Link to ClinVar
350167 300040 Benign Brachydactyly . 0.38359 HOM Link to ClinVar
350171 300043 Benign Brachydactyly . 0.38439 HOM Link to ClinVar
350174 300046 Benign Brachydactyly . 0.38478 HOM Link to ClinVar
350175 296278 Benign Brachydactyly . 0.12061 HET Link to ClinVar
18180 33219 protective Alcohol_dependence 0.34439 0.21426 HET Link to ClinVar
18179 33218 protective Alcohol_dependence 0.34247 0.21426 HET Link to ClinVar
402344 389612 Benign not_specified 0.98484 0.99281 HOM Link to ClinVar
347008 294755 Benign Abetalipoproteinaemia 0.21537 0.1907 HOM Link to ClinVar
347009 300160 Benign Abetalipoproteinaemia 0.33191 0.25 HOM Link to ClinVar
14242 29281 Benign Abetalipoproteinaemia
Metabolic_syndrome,_protection_against
not_specified		 0.25044 0.2498 HOM Link to ClinVar
347052 294800 Uncertain_significance Abetalipoproteinaemia . 0.01038 HET Link to ClinVar
347062 296412 Benign Abetalipoproteinaemia . 0.6877 HOM Link to ClinVar
1269 16308 Uncertain_significance Systemic_lupus_erythmatosus,_association_with . 0.21845 HET Link to ClinVar
347065 296563 Benign Beta-D-mannosidosis . 0.55032 HET Link to ClinVar
347067 291851 Benign Beta-D-mannosidosis . 0.55032 HET Link to ClinVar
347068 293217 Benign Beta-D-mannosidosis . 0.55032 HET Link to ClinVar
347074 296580 Benign Beta-D-mannosidosis . 0.55032 HET Link to ClinVar
347075 293223 Benign Beta-D-mannosidosis . 0.55032 HET Link to ClinVar
347077 296534 Benign/Likely_benign Beta-D-mannosidosis
not_provided		 0.01313 0.00639 HET Link to ClinVar
403070 389604 Benign not_specified
not_provided		 . . HET Link to ClinVar
667482 660176 Benign not_provided . . HET Link to ClinVar
667481 660177 Benign not_provided . . HET Link to ClinVar
667480 660388 Benign not_provided . . HET Link to ClinVar
667478 660062 Benign not_provided . . HET Link to ClinVar
667477 660390 Benign not_provided . . HET Link to ClinVar
667476 660067 Benign not_provided . . HET Link to ClinVar
95320 101219 Benign Beta-D-mannosidosis
not_specified
not_provided		 0.53296 0.54972 HET Link to ClinVar
667475 660181 Benign not_provided . . HET Link to ClinVar
667474 660183 Benign not_provided . . HET Link to ClinVar
667473 660152 Benign not_provided . . HET Link to ClinVar
667472 660392 Benign not_provided . . HET Link to ClinVar
95319 101218 Benign Beta-D-mannosidosis
not_specified
not_provided		 . 0.54912 HET Link to ClinVar
95318 101217 Benign not_specified
not_provided		 0.53368 0.54912 HET Link to ClinVar
667470 660160 Benign not_provided . . HET Link to ClinVar
667469 660185 Benign not_provided . . HET Link to ClinVar
667468 660187 Benign not_provided . . HET Link to ClinVar
347104 296542 Likely_benign Isolated_GnRH_Deficiency . 0.55032 HOM Link to ClinVar
802081 790428 Benign Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3 . . HOM Link to ClinVar
670712 660075 Benign not_provided . . HET Link to ClinVar
377766 367432 Benign not_specified . 0.65096 HET Link to ClinVar
167162 177759 Benign not_specified 0.91505 0.86901 HOM Link to ClinVar
767969 777405 Benign not_provided . . HOM Link to ClinVar
162164 171877 not_provided not_provided . 0.78455 HOM Link to ClinVar
369434 353663 Benign Atypical_hemolytic_uremic_syndrome 0.0107 0.03275 HET Link to ClinVar
347143 293307 Benign Atypical_hemolytic_uremic_syndrome 0.98817 0.95367 HOM Link to ClinVar
347167 293323 Benign Atypical_hemolytic_uremic_syndrome 0.28372 0.3121 HET Link to ClinVar
347170 296651 Likely_benign Atypical_hemolytic_uremic_syndrome 0.00481 0.01118 HET Link to ClinVar
347195 296675 Benign Congenital_Stationary_Night_Blindness,_Recessive . 0.2486 HET Link to ClinVar
347196 291932 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.19511 0.25899 HET Link to ClinVar
347197 296667 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.03799 0.11741 HET Link to ClinVar
347198 293357 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.19504 0.2488 HET Link to ClinVar
347203 296699 Likely_benign Congenital_Stationary_Night_Blindness,_Recessive . 0.03415 HET Link to ClinVar
347206 291943 Benign Congenital_Stationary_Night_Blindness,_Recessive . 0.77776 HOM Link to ClinVar
347213 296678 Likely_benign Congenital_Stationary_Night_Blindness,_Recessive . 0.04633 HOM Link to ClinVar
225998 227748 drug_response cetuximab_response_-_Efficacy
Renal_Hypomagnesemia,_Recessive		 . 0.60523 HET Link to ClinVar
347234 296701 Benign Renal_Hypomagnesemia,_Recessive 0.09846 0.16534 HET Link to ClinVar
780933 709124 Benign not_provided . . HET Link to ClinVar
347242 293436 Benign Renal_Hypomagnesemia,_Recessive 0.04767 0.10603 HET Link to ClinVar
347245 293437 Benign Renal_Hypomagnesemia,_Recessive 0.46584 0.61781 HET Link to ClinVar
347248 296755 Likely_benign Renal_Hypomagnesemia,_Recessive 0.01163 0.03315 HET Link to ClinVar
347252 292005 Benign Renal_Hypomagnesemia,_Recessive 0.84067 0.92053 HOM Link to ClinVar
347273 293454 Likely_benign Renal_Hypomagnesemia,_Recessive . 0.03035 HET Link to ClinVar
347278 292021 Uncertain_significance Renal_Hypomagnesemia,_Recessive . . HET Link to ClinVar
347283 293461 Benign Renal_Hypomagnesemia,_Recessive . 0.42552 HET Link to ClinVar
672177 660162 Benign not_provided . . HET Link to ClinVar
683232 660082 Benign not_provided . . HET Link to ClinVar
683235 660213 Benign not_provided . . HET Link to ClinVar
671890 660168 Benign not_provided . . HET Link to ClinVar
678445 660097 Benign not_provided . . HET Link to ClinVar
671891 660432 Benign not_provided . . HET Link to ClinVar
671007 660452 Benign not_provided . . HOM Link to ClinVar
347373 296847 Benign Intellectual_Disability,_Recessive . . HET Link to ClinVar
130041 135487 Benign not_specified
Intellectual_Disability,_Recessive		 0.55467 0.54533 HET Link to ClinVar
130042 135488 Benign not_specified
Intellectual_Disability,_Recessive		 0.65434 0.49221 HOM Link to ClinVar
771145 698349 Benign not_provided . . HET Link to ClinVar
672825 660267 Benign not_provided . . HOM Link to ClinVar
671139 660141 Benign not_provided . . HET Link to ClinVar
671140 660151 Benign not_provided . . HET Link to ClinVar
671141 660483 Benign not_provided . . HET Link to ClinVar
31787 40447 Benign Familial_hypertrophic_cardiomyopathy_16
not_specified
not_provided		 0.64943 0.54633 HET Link to ClinVar
671142 660157 Benign not_provided . . HET Link to ClinVar
674345 660269 Benign not_provided . . HET Link to ClinVar
45786 54951 Benign not_specified . . HET Link to ClinVar
347422 296893 Likely_benign Hypertrophic_cardiomyopathy . 0.28734 HET Link to ClinVar
16494 31533 Benign FATTY_ACID-BINDING_PROTEIN,_INTESTINAL,_POLYMORPHISM_OF 0.72606 0.74661 HET Link to ClinVar
683711 660211 Benign not_provided . . HOM Link to ClinVar
683710 660504 Benign not_provided . . HET Link to ClinVar
347437 293600 Benign Brittle_cornea_syndrome_1
not_specified		 0.21155 0.13738 HET Link to ClinVar
683709 660284 Benign not_provided . . HOM Link to ClinVar
347440 292165 Benign Brittle_cornea_syndrome_1
not_specified		 . . HET Link to ClinVar
683708 660287 Benign not_provided . . HET Link to ClinVar
683727 660212 Benign not_provided . . HET Link to ClinVar
347444 296920 Benign Brittle_cornea_syndrome_1
not_specified		 0.29117 0.27496 HET Link to ClinVar
347445 296926 Benign/Likely_benign Brittle_cornea_syndrome_1
not_specified		 0.02449 0.01018 HET Link to ClinVar
347471 296948 Benign Bardet-Biedl_syndrome . . HET Link to ClinVar
347476 296957 Benign Bardet-Biedl_syndrome . 0.27676 HET Link to ClinVar
262922 251316 Benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified		 . 0.8121 HET Link to ClinVar
347491 292191 Benign Bardet-Biedl_syndrome . 0.30132 HET Link to ClinVar
402975 389654 Benign not_specified 0.74336 0.84046 HOM Link to ClinVar
347494 292197 Likely_benign Bardet-Biedl_syndrome . 0.13918 HOM Link to ClinVar
166725 176959 Benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.41403 0.50639 HOM Link to ClinVar
262669 251326 Benign Bardet-Biedl_syndrome
not_specified
not_provided		 0.03759 0.09265 HET Link to ClinVar
166726 177507 Benign/Likely_benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.17276 0.09465 HET Link to ClinVar
166727 177222 Benign/Likely_benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.16956 0.09265 HET Link to ClinVar
166728 177508 Benign/Likely_benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.18683 0.12101 HET Link to ClinVar
166730 177510 Benign/Likely_benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.16933 0.09185 HET Link to ClinVar
347508 293633 Likely_benign Bardet-Biedl_syndrome . 0.13199 HET Link to ClinVar
347513 293643 Benign Bardet-Biedl_syndrome . 0.54413 HOM Link to ClinVar
586674 576773 Benign not_provided . 0.74341 HOM Link to ClinVar
203522 199933 Benign not_provided 0.91669 0.87859 HOM Link to ClinVar
380793 367834 Benign not_specified 0.70116 0.72105 HOM Link to ClinVar
380818 367553 Benign not_specified 0.09213 0.0643 HET Link to ClinVar
380882 367878 Benign not_specified 0.08517 0.10863 HET Link to ClinVar
377855 367841 Benign not_specified 0.69741 0.71126 HOM Link to ClinVar
668137 660218 Benign not_provided . . HOM Link to ClinVar
380250 367846 Benign not_specified 0.99659 0.98842 HOM Link to ClinVar
380794 368957 Benign not_specified 0.17761 0.20467 HET Link to ClinVar
668138 660219 Benign not_provided . . HOM Link to ClinVar
668139 660170 Benign not_provided . . HET Link to ClinVar
380795 367556 Benign not_specified . 0.99082 HOM Link to ClinVar
380813 367890 Benign Van_Maldergem_syndrome_2
not_specified		 0.26733 0.23063 HET Link to ClinVar
380797 367898 Benign Van_Maldergem_syndrome_2
not_specified		 0.99777 0.99101 HOM Link to ClinVar
680145 660543 Benign not_provided . . HET Link to ClinVar
680146 660295 Benign not_provided . . HET Link to ClinVar
680147 660221 Benign not_provided . . HET Link to ClinVar
668140 660298 Benign not_provided . . HET Link to ClinVar
380799 368992 Benign not_specified 0.3745 0.33786 HET Link to ClinVar
668141 660306 Benign not_provided . . HET Link to ClinVar
680154 660175 Benign not_provided . . HET Link to ClinVar
680157 660227 Benign not_provided . . HET Link to ClinVar
681691 660312 Benign not_provided . . HET Link to ClinVar
380802 367599 Benign not_specified 0.75686 0.74062 HOM Link to ClinVar
347552 292257 Benign Smith-McCort_dysplasia . 0.17093 HET Link to ClinVar
347558 292267 Benign Smith-McCort_dysplasia . 0.17133 HET Link to ClinVar
347575 292269 Likely_benign Smith-McCort_dysplasia . 0.10383 HET Link to ClinVar
347582 292290 Benign Smith-McCort_dysplasia . 0.15895 HET Link to ClinVar
347584 292299 Likely_benign Smith-McCort_dysplasia . 0.01138 HET Link to ClinVar
347593 293742 Benign Smith-McCort_dysplasia . 0.22704 HET Link to ClinVar
667501 660188 Benign not_provided . . HET Link to ClinVar
667502 660553 Benign not_provided . . HET Link to ClinVar
347647 292365 Benign Methylmalonic_acidemia . 0.56569 HET Link to ClinVar
347652 297183 Benign Methylmalonic_acidemia . 0.56569 HET Link to ClinVar
347655 297184 Benign Methylmalonic_acidemia . 0.27416 HET Link to ClinVar
347673 297192 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.71625 HET Link to ClinVar
347695 292417 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.55351 HET Link to ClinVar
256828 251336 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant
not_specified		 . 0.89197 HOM Link to ClinVar
256832 251337 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant
not_specified		 0.88116 0.89197 HOM Link to ClinVar
256827 251338 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant
not_specified		 0.55105 0.5008 HET Link to ClinVar
403047 389609 Benign not_specified 0.20277 0.14217 HET Link to ClinVar
403048 389652 Benign not_specified 0.27726 0.16214 HET Link to ClinVar
473187 452979 Benign not_provided 0.0077 0.02316 HET Link to ClinVar
439869 433673 Conflicting_interpretations_of_pathogenicity Common_variable_immunodeficiency_8,_with_autoimmunity
not_specified
not_provided		 0.00463 0.002 HET Link to ClinVar
403050 389662 Benign not_specified 0.18415 0.12081 HET Link to ClinVar
473178 453283 Benign Common_variable_immunodeficiency_8,_with_autoimmunity . . HET Link to ClinVar
196133 193294 Benign not_specified 0.85691 0.753 HET Link to ClinVar
347782 293907 Benign Afibrinogenemia,_congenital . 0.21366 HOM Link to ClinVar
347787 292488 Benign Afibrinogenemia,_congenital . 0.92352 HOM Link to ClinVar
347799 292505 Benign Afibrinogenemia,_congenital . 0.21326 HOM Link to ClinVar
347824 297315 Benign Familial_visceral_amyloidosis,_Ostertag_type
Afibrinogenemia,_congenital		 . 0.64297 HOM Link to ClinVar
347911 297419 Benign Hyperekplexia . 0.47364 HET Link to ClinVar
347917 297477 Benign Hyperekplexia . 0.49121 HET Link to ClinVar
347924 297500 Benign Hyperekplexia 0.04729 0.0621 HET Link to ClinVar
347932 292659 Benign Hyperekplexia . 0.06849 HET Link to ClinVar
347940 297437 Benign Hyperekplexia . 0.47145 HET Link to ClinVar
347943 292668 Benign Hyperekplexia . 0.08626 HET Link to ClinVar
347948 297452 Benign Hyperekplexia . 0.08606 HET Link to ClinVar
95075 100975 Benign Glutaric_aciduria,_type_2
not_specified
not_provided		 0.81192 0.67272 HOM Link to ClinVar
676122 660362 Likely_benign not_provided . . HET Link to ClinVar
683984 660570 Benign not_provided . . HOM Link to ClinVar
680123 660363 Benign not_provided . . HOM Link to ClinVar
375483 362288 association Chronic_osteomyelitis . 0.80691 HOM Link to ClinVar
769296 698419 Likely_benign not_provided . . HET Link to ClinVar
348020 292720 Benign Carcinoma_of_pancreas . 0.40675 HET Link to ClinVar
128099 133556 Likely_benign Carcinoma_of_pancreas
not_specified
not_provided		 0.00154 . HET Link to ClinVar
182793 180160 Benign not_specified
not_provided		 0.64643 0.47863 HOM Link to ClinVar
182795 180162 Benign Hereditary_cancer-predisposing_syndrome . . HOM Link to ClinVar
348048 294114 Benign Carcinoma_of_pancreas . . HOM Link to ClinVar
348069 297578 Benign Carcinoma_of_pancreas . 0.56809 HOM Link to ClinVar
348072 292770 Benign Carcinoma_of_pancreas . . HOM Link to ClinVar
348083 294152 Benign Short_Rib_Polydactyly_Syndrome . 0.36342 HET Link to ClinVar
348085 292774 Benign Short_Rib_Polydactyly_Syndrome . 0.90575 HOM Link to ClinVar
667932 660372 Benign not_provided . . HET Link to ClinVar
667931 660214 Benign not_provided . . HET Link to ClinVar
667930 660577 Benign not_provided . . HOM Link to ClinVar
667929 660579 Benign not_provided . . HOM Link to ClinVar
667928 660252 Benign not_provided . . HOM Link to ClinVar
95508 101407 Benign Short_rib-polydactyly_syndrome,_Majewski_type
not_specified		 0.87222 0.79533 HOM Link to ClinVar
667927 660376 Benign not_provided . . HOM Link to ClinVar
671220 660581 Benign not_provided . . HET Link to ClinVar
667924 660272 Benign not_provided . . HOM Link to ClinVar
667906 660288 Benign not_provided . . HOM Link to ClinVar
671200 660225 Benign not_provided . . HET Link to ClinVar
369440 353669 Benign Digital_clubbing,_isolated_congenital
Hypertrophic_osteoarthropathy,_primary,_autosomal_recessive,_1		 . 1 HOM Link to ClinVar
348224 294280 Benign Aspartylglucosaminuria 0.61064 0.45687 HET Link to ClinVar
683254 660592 Benign not_provided . . HET Link to ClinVar
683253 660229 Benign not_provided . . HET Link to ClinVar
683252 660407 Benign not_provided . . HOM Link to ClinVar
558962 549568 Benign not_provided 0.99669 0.98902 HOM Link to ClinVar
683243 660409 Benign not_provided . . HOM Link to ClinVar
92308 98219 Benign Aspartylglucosaminuria
not_specified
not_provided		 0.97822 0.92093 HOM Link to ClinVar
683241 660300 Benign not_provided . . HOM Link to ClinVar
683240 660301 Benign not_provided . . HOM Link to ClinVar
558965 549571 Benign not_provided 0.65526 0.61042 HOM Link to ClinVar
677187 660317 Benign not_provided . . HET Link to ClinVar
257347 251400 Benign not_specified
not_provided		 0.44928 0.52017 HET Link to ClinVar
667657 660601 Benign not_provided . . HET Link to ClinVar
674012 660319 Benign not_provided . . HET Link to ClinVar
257349 251402 Benign not_specified 1 1 HOM Link to ClinVar
677188 660257 Benign not_provided . . HOM Link to ClinVar
257353 251406 Benign not_specified
not_provided		 0.19882 0.16474 HET Link to ClinVar
674013 660415 Benign not_provided . . HET Link to ClinVar
674014 660417 Benign not_provided . . HET Link to ClinVar
667659 660326 Benign not_provided . . HET Link to ClinVar
667660 660259 Benign not_provided . . HET Link to ClinVar
348256 292939 Benign Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions . 0.9365 HOM Link to ClinVar
348259 294314 Benign Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions . 0.03654 HET Link to ClinVar
348262 294317 Benign Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions . 0.4399 HET Link to ClinVar
348271 297875 Benign Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions . 0.46865 HET Link to ClinVar
348282 297804 Benign Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions . 0.43051 HET Link to ClinVar
138675 142378 Benign not_specified
Cardiovascular_phenotype		 0.78301 0.65955 HOM Link to ClinVar
138674 142377 Benign not_specified 0.15631 0.13918 HET Link to ClinVar
671179 660327 Benign not_provided . . HOM Link to ClinVar
671178 660337 Benign not_provided . . HOM Link to ClinVar
683682 660356 Benign not_provided . . HOM Link to ClinVar
683681 660358 Benign not_provided . . HOM Link to ClinVar
672915 660274 Benign not_provided . . HOM Link to ClinVar
41472 49908 Benign/Likely_benign Human_immunodeficiency_virus_type_1,_susceptibility_to
Herpes_simplex_encephalitis_2
not_specified		 . 0.23183 HET Link to ClinVar
470483 453122 Benign Herpes_simplex_encephalitis_1 . 0.05451 HET Link to ClinVar
348288 294375 Benign Bietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive		 . 0.86222 HOM Link to ClinVar
348291 297824 Benign Bietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive		 . 0.4355 HOM Link to ClinVar
263297 251427 Benign Bietti_crystalline_corneoretinal_dystrophy
not_specified
Corneal_Dystrophy,_Recessive		 0.58525 0.55931 HOM Link to ClinVar
166975 177662 Benign Bietti_crystalline_corneoretinal_dystrophy
not_specified
Corneal_Dystrophy,_Recessive		 0.33771 0.29233 HOM Link to ClinVar
166976 177663 Benign Bietti_crystalline_corneoretinal_dystrophy
not_specified
Corneal_Dystrophy,_Recessive		 . 0.57748 HOM Link to ClinVar
263298 251428 Benign/Likely_benign Bietti_crystalline_corneoretinal_dystrophy
not_specified
Corneal_Dystrophy,_Recessive		 0.0272 0.03355 HET Link to ClinVar
348319 297909 Benign Bietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive		 . 0.82728 HOM Link to ClinVar
348324 294421 Benign Bietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive		 . 0.90435 HOM Link to ClinVar
348325 297916 Benign Bietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive		 . 0.82728 HOM Link to ClinVar
348351 293022 Benign Bietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive		 . 0.45767 HOM Link to ClinVar
348357 294435 Benign Bietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive		 . 0.90415 HOM Link to ClinVar
12037 27076 Conflicting_interpretations_of_pathogenicity Prekallikrein_deficiency 0.53647 0.60463 HOM Link to ClinVar
760971 774896 Benign not_provided . . HET Link to ClinVar
348382 293066 Likely_benign Hereditary_factor_XI_deficiency_disease . 0.1284 HET Link to ClinVar
348383 293075 Benign Hereditary_factor_XI_deficiency_disease . 0.38618 HET Link to ClinVar
348385 298032 Benign Hereditary_factor_XI_deficiency_disease . 0.38958 HET Link to ClinVar
348396 298036 Uncertain_significance Hereditary_factor_XI_deficiency_disease . . HET Link to ClinVar
781849 709288 Likely_benign not_provided . . HET Link to ClinVar
259248 251940 Benign/Likely_benign Pheochromocytoma
Leigh_syndrome
Hereditary_cancer-predisposing_syndrome
Mitochondrial_complex_II_deficiency
not_specified		 . 0.85843 HET Link to ClinVar
130283 135730 Benign/Likely_benign Pheochromocytoma
Leigh_syndrome
Hereditary_cancer-predisposing_syndrome
Mitochondrial_complex_II_deficiency
not_specified		 0.70783 0.65336 HET Link to ClinVar
548117 538600 drug_response vincristine_response_-_Toxicity/ADR . 0.28215 HET Link to ClinVar
782944 709550 Benign not_provided . . HET Link to ClinVar
130354 135801 Likely_benign not_specified . 0.84006 HOM Link to ClinVar
39119 47725 Benign Aplastic_anemia
Idiopathic_fibrosing_alveolitis,_chronic_form
Dyskeratosis_congenita_autosomal_dominant
not_specified
Dyskeratosis_Congenita,_Recessive		 0.12388 0.11781 HET Link to ClinVar
539247 520672 Benign not_provided . 0.43431 HET Link to ClinVar
225783 227598 Benign Chronic_osteomyelitis
not_provided		 . 0.34764 HET Link to ClinVar
539266 520888 Benign not_provided . 0.16574 HET Link to ClinVar
539227 520975 Benign not_provided . 0.32149 HOM Link to ClinVar
39126 47732 Benign Aplastic_anemia
Idiopathic_fibrosing_alveolitis,_chronic_form
Dyskeratosis_congenita_autosomal_dominant
not_specified
Dyskeratosis_Congenita,_Recessive		 0.40447 0.26558 HOM Link to ClinVar
539240 520856 Benign not_provided . 0.29792 HOM Link to ClinVar
518359 508799 Benign Parkinsonism-dystonia,_infantile,_1 0.96388 0.9367 HOM Link to ClinVar
522347 512901 Benign Parkinsonism-dystonia,_infantile,_1 0.31903 0.42033 HOM Link to ClinVar
683110 661326 Benign not_provided . . HET Link to ClinVar
683111 660881 Benign not_provided . . HET Link to ClinVar
683112 661328 Benign not_provided . . HET Link to ClinVar
683115 660883 Benign MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_9
not_provided		 . . HET Link to ClinVar
354040 300127 Likely_benign Intellectual_Disability,_Recessive . . HET Link to ClinVar
129841 135287 Benign/Likely_benign History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive		 . 0.05511 HET Link to ClinVar
354054 300147 Benign Intellectual_Disability,_Recessive 0.66094 0.67532 HOM Link to ClinVar
129845 135291 Benign not_specified
Intellectual_Disability,_Recessive		 0.33253 0.27676 HET Link to ClinVar
129842 135288 Benign History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive		 0.29417 0.27656 HET Link to ClinVar
354067 304385 Benign Intellectual_Disability,_Recessive . 0.26238 HET Link to ClinVar
7029 22068 drug_response Down_syndrome,_susceptibility_to
Neural_tube_defects,_folate-sensitive,_susceptibility_to
Gastrointestinal_stroma_tumor
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified
methotrexate_response_-_Toxicity/ADR		 0.47303 0.36422 HOM Link to ClinVar
138304 142007 Benign Gastrointestinal_stroma_tumor
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified		 0.31547 0.26997 HET Link to ClinVar
506293 501264 Benign not_specified . 0.09006 HET Link to ClinVar
138295 141998 Benign not_specified . 0.00799 HET Link to ClinVar
138296 141999 Benign Homocystinuria-Megaloblastic_anemia_due_to_defect_in_cobalamin_metabolism,_cblE_complementation_type
not_specified		 0.0152 0.00799 HET Link to ClinVar
138297 142000 Benign Homocystinuria-Megaloblastic_anemia_due_to_defect_in_cobalamin_metabolism,_cblE_complementation_type
not_specified		 0.01606 0.00899 HET Link to ClinVar
138299 142002 Conflicting_interpretations_of_pathogenicity Homocystinuria-Megaloblastic_anemia_due_to_defect_in_cobalamin_metabolism,_cblE_complementation_type
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified		 0.01526 0.00799 HET Link to ClinVar
138302 142005 Benign Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified		 0.3142 0.26637 HET Link to ClinVar
354369 300511 Likely_benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.08307 HET Link to ClinVar
354373 305043 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.48562 HET Link to ClinVar
354376 300516 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.48622 HET Link to ClinVar
350245 294803 Benign Neuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia		 . 0.6853 HOM Link to ClinVar
350246 296446 Benign Neuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia		 0.78916 0.6853 HOM Link to ClinVar
350248 300196 Benign Neuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia		 0.78947 0.6859 HOM Link to ClinVar
350249 300209 Benign Neuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia		 . 0.69249 HOM Link to ClinVar
350257 294811 Benign Neuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia		 0.78944 0.6859 HOM Link to ClinVar
350262 296482 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . 0.6857 HOM Link to ClinVar
350264 296487 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . 0.6859 HOM Link to ClinVar
350271 300281 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . 0.6859 HOM Link to ClinVar
350276 300284 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . 0.6861 HOM Link to ClinVar
350278 296511 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . 0.66314 HOM Link to ClinVar
350284 296526 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . . HOM Link to ClinVar
350288 300246 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . 0.88798 HOM Link to ClinVar
350910 295377 Benign Primary_ciliary_dyskinesia . 0.44369 HET Link to ClinVar
258001 251675 Benign not_specified 0.52578 0.50879 HET Link to ClinVar
178740 173682 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.50127 0.44768 HET Link to ClinVar
163132 173545 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.51897 0.50359 HET Link to ClinVar
257989 251687 Benign not_specified 0.10571 0.05671 HET Link to ClinVar
257985 251688 Benign not_specified 0.60235 0.59764 HOM Link to ClinVar
257980 251692 Benign not_specified . 0.55591 HOM Link to ClinVar
178744 173548 Benign/Likely_benign Primary_ciliary_dyskinesia
not_specified
not_provided		 . 0.06569 HET Link to ClinVar
407241 394769 Pathogenic Primary_ciliary_dyskinesia . . HET Link to ClinVar
258039 251744 Benign not_specified 0.05265 0.05331 HET Link to ClinVar
258038 251745 Benign not_specified . 0.35703 HET Link to ClinVar
163154 173563 Benign/Likely_benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.25347 0.2506 HET Link to ClinVar
258017 251764 Benign not_specified 0.30769 0.3157 HET Link to ClinVar
178755 173566 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.50153 0.60124 HET Link to ClinVar
163157 173704 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.41862 0.38838 HET Link to ClinVar
163158 173705 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.42202 0.52875 HET Link to ClinVar
257987 251779 Benign not_specified 0.42165 0.52875 HET Link to ClinVar
257988 251780 Benign not_specified 0.42096 0.52855 HET Link to ClinVar
258072 251783 Benign not_specified 0.25856 0.19589 HET Link to ClinVar
178760 173571 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.9358 0.91294 HOM Link to ClinVar
351403 301744 Benign Chondrocalcinosis
Craniometaphyseal_dysplasia		 . 0.70527 HOM Link to ClinVar
351418 297626 Likely_benign Chondrocalcinosis
Craniometaphyseal_dysplasia		 . 0.0028 HET Link to ClinVar
351424 295804 Benign Chondrocalcinosis
Craniometaphyseal_dysplasia		 . 0.92073 HOM Link to ClinVar
351425 301758 Benign Chondrocalcinosis
Craniometaphyseal_dysplasia		 . . HOM Link to ClinVar
351428 297645 Benign Chondrocalcinosis
Craniometaphyseal_dysplasia		 . 0.92073 HOM Link to ClinVar
351457 301573 Benign Chondrocalcinosis
Craniometaphyseal_dysplasia		 . 0.96346 HOM Link to ClinVar
351459 301574 Benign Chondrocalcinosis
Craniometaphyseal_dysplasia		 . . HOM Link to ClinVar
351468 301588 Benign Chondrocalcinosis
Craniometaphyseal_dysplasia		 . 0.96406 HOM Link to ClinVar
352675 298709 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II . 0.40795 HET Link to ClinVar
352681 302950 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II . 0.32228 HET Link to ClinVar
352683 303128 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II . . HET Link to ClinVar
518360 508800 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IIB 0.66247 0.67712 HET Link to ClinVar
673439 660816 Benign not_provided . . HET Link to ClinVar
352689 296804 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Hereditary_sensory_and_autonomic_neuropathy_type_IIB		 0.66612 0.67752 HET Link to ClinVar
673438 661117 Benign not_provided . . HET Link to ClinVar
670508 661234 Benign not_provided . . HET Link to ClinVar
668135 661064 Benign not_provided . . HOM Link to ClinVar
286856 271093 Benign not_specified 0.85881 0.83946 HET Link to ClinVar
617842 609201 Uncertain_significance Speech-language_disorder_1 0.1678 0.09585 HET Link to ClinVar
197829 194990 Benign not_specified 0.6403 0.27496 HOM Link to ClinVar
197309 194470 Benign not_specified 0.89677 0.83307 HOM Link to ClinVar
353244 303828 Benign/Likely_benign Oculocutaneous_albinism
Alpha-methylacyl-CoA_racemase_deficiency		 . 0.19369 HET Link to ClinVar
128360 133809 Benign Oculocutaneous_albinism
Alpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided		 0.7016 0.69609 HOM Link to ClinVar
128359 133808 Benign/Likely_benign Alpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided		 0.12683 0.11442 HET Link to ClinVar
128358 133807 Benign Alpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided		 . 0.71486 HOM Link to ClinVar
128357 133806 Benign Alpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided		 0.41077 0.2526 HET Link to ClinVar
128356 133805 Benign Alpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided		 0.4227 0.28694 HET Link to ClinVar
403471 389694 Benign not_specified 0.60606 0.67911 HOM Link to ClinVar
403472 389682 Benign not_specified 0.72204 0.78415 HOM Link to ClinVar
403473 389695 Benign not_specified 0.60123 0.67712 HOM Link to ClinVar
403475 389697 Benign not_specified 0.22232 0.35703 HET Link to ClinVar
403477 389646 Benign not_specified 0.50955 0.4405 HET Link to ClinVar
403478 389685 Benign not_specified 0.75556 . HOM Link to ClinVar
403479 389686 Benign not_specified 0.75565 . HOM Link to ClinVar
403481 389667 Benign not_specified 0.59335 0.50359 HET Link to ClinVar
379998 368624 Benign not_specified 0.37641 0.32728 HET Link to ClinVar
379997 368629 Benign not_specified 0.49859 0.25839 HET Link to ClinVar
676272 660886 Benign not_provided . . HET Link to ClinVar
379996 368467 Benign not_specified . 0.30931 HET Link to ClinVar
353326 297395 Benign Episodic_ataxia 0.29768 . HET Link to ClinVar
353336 299438 Benign Episodic_ataxia . 0.35044 HET Link to ClinVar
353354 297413 Benign Episodic_ataxia . 0.20487 HET Link to ClinVar
96333 102227 Benign History_of_neurodevelopmental_disorder
Cornelia_de_Lange_syndrome_1
not_specified
Cornelia_de_Lange_Syndrome
not_provided		 0.1322 0.1252 HET Link to ClinVar
96340 102234 Benign/Likely_benign not_specified 0.13203 0.1268 HET Link to ClinVar
673933 661216 Benign not_provided . . HOM Link to ClinVar
673934 661223 Benign not_provided . . HOM Link to ClinVar
667677 661340 Benign not_provided . . HET Link to ClinVar
96348 102242 Benign History_of_neurodevelopmental_disorder
not_specified
Cornelia_de_Lange_Syndrome		 0.22843 0.17153 HET Link to ClinVar
673993 661155 Benign not_provided . . HOM Link to ClinVar
673935 660889 Benign not_provided . . HOM Link to ClinVar
667678 661158 Benign not_provided . . HOM Link to ClinVar
680164 661225 Benign not_provided . . HET Link to ClinVar
197507 194668 Benign/Likely_benign Joubert_syndrome
not_specified		 . . HET Link to ClinVar
680162 661233 Benign not_provided . . HET Link to ClinVar
671676 660892 Benign not_provided . . HET Link to ClinVar
680161 661342 Benign not_provided . . HET Link to ClinVar
680160 661168 Benign not_provided . . HET Link to ClinVar
158048 167895 Benign Joubert_syndrome
Joubert_syndrome_17
not_specified		 0.13507 0.17272 HET Link to ClinVar
680158 661235 Benign not_provided . . HET Link to ClinVar
158046 167893 Benign/Likely_benign Joubert_syndrome
Joubert_syndrome_17
not_specified		 0.12394 0.14237 HET Link to ClinVar
158053 167900 Benign Joubert_syndrome_17
not_specified		 0.99991 0.9998 HOM Link to ClinVar
778866 699089 Benign not_provided . . HET Link to ClinVar
353491 304160 Likely_benign Hirschsprung_Disease,_Dominant . 0.2476 HET Link to ClinVar
353494 304161 Benign Hirschsprung_Disease,_Dominant . 0.53994 HET Link to ClinVar
353520 304198 Benign Hirschsprung_Disease,_Dominant . 0.40535 HOM Link to ClinVar
353538 303799 Benign Stuve-Wiedemann_syndrome . 0.14217 HET Link to ClinVar
353589 299756 Uncertain_significance Stuve-Wiedemann_syndrome . . HET Link to ClinVar
353602 297587 Benign Stuve-Wiedemann_syndrome . 0.72903 HET Link to ClinVar
353617 297598 Benign Stuve-Wiedemann_syndrome 0.1909 0.13838 HET Link to ClinVar
402465 389704 Benign not_specified 0.53642 0.6278 HET Link to ClinVar
402466 389708 Benign not_specified 0.36427 0.28614 HOM Link to ClinVar
402458 389633 Benign not_specified 0.59361 0.55391 HET Link to ClinVar
353674 297643 Benign Succinyl-CoA_acetoacetate_transferase_deficiency . 0.19649 HET Link to ClinVar
353677 303980 Uncertain_significance Laron-type_isolated_somatotropin_defect 0.00048 0.0002 HET Link to ClinVar
198051 195212 Benign Laron-type_isolated_somatotropin_defect
not_specified		 0.71216 0.64157 HET Link to ClinVar
255404 251971 Benign/Likely_benign Laron-type_isolated_somatotropin_defect
not_specified		 0.02257 0.02057 HET Link to ClinVar
8658 23697 Benign Laron-type_isolated_somatotropin_defect
Familial_hypercholesterolemia_1
not_specified		 0.44339 0.44449 HET Link to ClinVar
353693 303994 Benign Laron-type_isolated_somatotropin_defect . 0.45567 HET Link to ClinVar
353695 304005 Benign Laron-type_isolated_somatotropin_defect . 0.81949 HOM Link to ClinVar
353706 304017 Benign Laron-type_isolated_somatotropin_defect . . HOM Link to ClinVar
353708 297656 Benign Laron-type_isolated_somatotropin_defect . 0.78794 HOM Link to ClinVar
353723 297679 Benign Congenital_absence_of_salivary_gland
Levy-Hollister_syndrome		 0.21611 0.18391 HET Link to ClinVar
353737 299877 Benign Platelet-type_bleeding_disorder_9 0.72126 0.70228 HET Link to ClinVar
353796 297736 Benign Combined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9		 . 0.79333 HOM Link to ClinVar
353800 297741 Benign Combined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9		 . 0.68011 HET Link to ClinVar
353828 297766 Benign/Likely_benign Combined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9		 . 0.18371 HET Link to ClinVar
353836 304488 Uncertain_significance Platelet-type_bleeding_disorder_9 . . HET Link to ClinVar
353841 297779 Benign Combined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9		 . 0.6901 HET Link to ClinVar
353851 299970 Benign Combined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9		 . . HET Link to ClinVar
129699 135145 Benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.62765 0.68091 HET Link to ClinVar
683100 661178 Benign not_provided . . HET Link to ClinVar
683102 660908 Benign not_provided . . HOM Link to ClinVar
129700 135146 Benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 . 0.94349 HOM Link to ClinVar
129701 135147 Benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.77345 0.80012 HET Link to ClinVar
683104 661246 Benign not_provided . . HET Link to ClinVar
683106 661254 Benign not_provided . . HET Link to ClinVar
683108 661351 Benign not_provided . . HET Link to ClinVar
353892 304535 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 0.44849 0.37859 HET Link to ClinVar
403074 389688 Benign not_specified 0.61405 0.48842 HET Link to ClinVar
261408 251972 Benign not_specified . 0.17772 HET Link to ClinVar
518361 508801 Benign 46,XY_sex_reversal,_type_6 0.79554 0.6857 HET Link to ClinVar
518362 508802 Benign 46,XY_sex_reversal,_type_6 0.61321 0.52616 HET Link to ClinVar
518363 508803 Benign 46,XY_sex_reversal,_type_6 0.8479 0.80431 HET Link to ClinVar
518364 508804 Benign 46,XY_sex_reversal,_type_6 0.59835 0.47644 HET Link to ClinVar
518365 508805 Benign 46,XY_sex_reversal,_type_6 0.7648 0.70827 HET Link to ClinVar
435819 428439 Benign 46,XY_sex_reversal,_type_6
not_specified		 . . HET Link to ClinVar
518366 508806 Benign 46,XY_sex_reversal,_type_6 . 0.70827 HET Link to ClinVar
353926 304270 Benign Acrodysostosis . 0.64656 HOM Link to ClinVar
353936 304283 Benign Acrodysostosis . 0.64756 HOM Link to ClinVar
353937 304604 Benign Acrodysostosis . 0.64736 HOM Link to ClinVar
353941 304619 Benign Acrodysostosis . 0.58906 HOM Link to ClinVar
353992 304670 Benign Acrodysostosis
not_specified		 0.83838 0.80931 HOM Link to ClinVar
354027 297944 Benign Cockayne_syndrome
Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_provided		 . 0.72424 HOM Link to ClinVar
129691 135137 Benign Cockayne_syndrome
Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.63875 0.69289 HOM Link to ClinVar
671559 661202 Benign not_provided . . HOM Link to ClinVar
680678 661357 Benign not_provided . . HOM Link to ClinVar
380829 368220 Benign not_specified 0.30072 0.20986 HOM Link to ClinVar
682855 661206 Benign not_provided . . HOM Link to ClinVar
682860 661381 Benign not_provided . . HOM Link to ClinVar
682864 661383 Benign not_provided . . HOM Link to ClinVar
682867 661267 Benign not_provided . . HOM Link to ClinVar
682868 660921 Benign not_provided . . HOM Link to ClinVar
682871 661386 Benign not_provided . . HOM Link to ClinVar
682874 661214 Benign not_provided . . HOM Link to ClinVar
682872 661219 Benign not_provided . . HOM Link to ClinVar
682876 660928 Benign not_provided . . HOM Link to ClinVar
682877 661271 Benign not_provided . . HOM Link to ClinVar
668920 661281 Benign not_provided . . HOM Link to ClinVar
682879 661227 Benign not_provided . . HOM Link to ClinVar
682882 661392 Benign not_provided . . HOM Link to ClinVar
682886 661398 Benign not_provided . . HOM Link to ClinVar
682887 661291 Benign not_provided . . HOM Link to ClinVar
375667 362497 drug_response not_specified
paroxetine_response_-_Efficacy		 . 0.54673 HOM Link to ClinVar
769300 777613 Benign not_provided . . HET Link to ClinVar
43843 53012 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.28175 HET Link to ClinVar
508084 501602 Benign not_specified 0.82475 0.77816 HOM Link to ClinVar
509130 500910 Likely_benign not_specified
not_provided		 0.00562 0.00379 HET Link to ClinVar
517819 501380 Benign not_specified 0.35386 0.32368 HET Link to ClinVar
508085 501609 Benign not_specified 0.4618 0.43271 HET Link to ClinVar
506538 500913 Benign not_specified 0.4631 0.4397 HET Link to ClinVar
508086 500915 Benign not_specified . 0.4399 HET Link to ClinVar
508087 501387 Benign not_specified 0.82543 0.79074 HOM Link to ClinVar
508088 501621 Benign not_specified 0.83435 0.82109 HOM Link to ClinVar
682760 661412 Benign not_provided . . HET Link to ClinVar
508127 501630 Benign not_specified 0.42652 0.39956 HET Link to ClinVar
508592 501633 Benign not_specified
not_provided		 0.02149 0.02017 HET Link to ClinVar
506716 501636 Benign not_specified 0.83534 0.82268 HOM Link to ClinVar
508089 501236 Benign not_specified 0.42655 0.39896 HET Link to ClinVar
508090 501390 Benign not_specified 0.46196 0.43271 HET Link to ClinVar
517820 501246 Benign not_specified 0.35372 0.32368 HET Link to ClinVar
684211 661306 Benign not_provided . . HET Link to ClinVar
684213 661319 Benign not_provided . . HOM Link to ClinVar
261560 251976 Benign not_specified 0.83481 0.8135 HOM Link to ClinVar
684218 660936 Benign not_provided . . HET Link to ClinVar
684219 661415 Benign not_provided . . HOM Link to ClinVar
96032 101926 Benign 3-MCC_Deficiency
not_specified		 0.36733 0.33007 HET Link to ClinVar
684220 661417 Benign not_provided . . HET Link to ClinVar
684221 661321 Benign not_provided . . HOM Link to ClinVar
96029 101923 Benign 3-MCC_Deficiency
not_specified		 0.87808 0.85144 HOM Link to ClinVar
684228 661256 Benign not_provided . . HOM Link to ClinVar
354106 304413 Benign 3-MCC_Deficiency . 0.8111 HOM Link to ClinVar
354124 300210 Benign 3-MCC_Deficiency . 0.32069 HET Link to ClinVar
257378 251987 Benign not_specified 0.54797 0.57788 HET Link to ClinVar
257359 251992 Benign not_specified 0.65144 0.67632 HET Link to ClinVar
257363 251996 Benign not_specified 1 1 HOM Link to ClinVar
257371 252002 Benign not_specified 0.05092 0.03514 HET Link to ClinVar
257372 252003 Benign not_specified 0.05726 0.03654 HET Link to ClinVar
257373 252004 Benign not_specified 0.04869 0.03474 HET Link to ClinVar
257374 252005 Benign not_specified 0.38088 0.30232 HET Link to ClinVar
680596 661332 Benign not_provided . . HET Link to ClinVar
369506 353735 Benign Sandhoff_disease
not_provided		 . 0.51038 HET Link to ClinVar
369507 353736 Benign Sandhoff_disease . 0.51038 HET Link to ClinVar
167173 177767 Benign Sandhoff_disease
not_specified		 0.97082 0.98143 HOM Link to ClinVar
680598 661334 Benign not_provided . . HOM Link to ClinVar
681700 660941 Benign not_provided . . HOM Link to ClinVar
256360 252011 Benign not_specified 0.89184 0.85344 HOM Link to ClinVar
93202 99109 Benign/Likely_benign HEXB_POLYMORPHISM
Sandhoff_disease
not_specified
not_provided		 0.15148 0.1284 HET Link to ClinVar
137480 141183 Benign not_specified . 0.1236 HOM Link to ClinVar
214504 211177 Benign not_specified
not_provided		 . . HOM Link to ClinVar
671623 661336 Benign not_provided . . HOM Link to ClinVar
137475 141178 Benign not_specified 0.12395 0.13918 HOM Link to ClinVar
137472 141175 Benign not_specified 0.13181 0.10843 HOM Link to ClinVar
676215 660946 Benign not_provided . . HOM Link to ClinVar
137481 141184 Benign not_specified 0.12846 0.15575 HOM Link to ClinVar
14903 29942 association Low_density_lipoprotein_cholesterol_level_quantitative_trait_locus_3 . 0.4357 HET Link to ClinVar
354164 304827 Benign Striatal_Degeneration 0.70312 0.76518 HOM Link to ClinVar
354179 304539 Benign Striatal_Degeneration . 0.66114 HET Link to ClinVar
354185 304845 Benign Striatal_Degeneration . 0.05072 HET Link to ClinVar
354192 304550 Benign Striatal_Degeneration . 0.44549 HET Link to ClinVar
162753 174289 Benign Hermansky-Pudlak_syndrome
not_specified		 0.86283 . HET Link to ClinVar
369509 353738 Likely_benign Mucopolysaccharidosis_type_VI . 0.05791 HET Link to ClinVar
354256 298115 Likely_benign Mucopolysaccharidosis_type_VI . 0.07568 HET Link to ClinVar
354262 304685 Benign Mucopolysaccharidosis_type_VI . 0.73742 HOM Link to ClinVar
354287 298153 Benign Mucopolysaccharidosis_type_VI . 0.5026 HET Link to ClinVar
354290 300434 Likely_benign Mucopolysaccharidosis_type_VI . 0.17133 HET Link to ClinVar
680476 661273 Benign not_provided . . HOM Link to ClinVar
92350 98261 Benign Mucopolysaccharidosis_type_VI
not_specified
not_provided		 0.39073 0.28554 HET Link to ClinVar
92357 98268 Benign/Likely_benign Mucopolysaccharidosis_type_VI
not_specified
not_provided		 0.05269 0.02656 HET Link to ClinVar
680475 661437 Benign not_provided . . HET Link to ClinVar
254739 252018 Benign not_specified
not_provided		 0.3203 0.24301 HET Link to ClinVar
354323 300479 Benign Mucopolysaccharidosis_type_VI . 0.90515 HOM Link to ClinVar
354331 300491 Benign Mucopolysaccharidosis_type_VI . 0.95188 HOM Link to ClinVar
354338 298198 Benign Mucopolysaccharidosis_type_VI . 0.81629 HOM Link to ClinVar
380066 368577 Benign not_specified 0.27984 0.30411 HET Link to ClinVar
380065 368583 Benign not_specified 0.27983 0.30411 HET Link to ClinVar
380064 369960 Benign not_specified 0.28077 0.30591 HET Link to ClinVar
380063 368740 Benign not_specified 0.18876 0.19868 HET Link to ClinVar
380019 369997 Benign not_specified 0.64482 0.65056 HET Link to ClinVar
785801 710026 Benign not_provided . . HET Link to ClinVar
157590 167452 Uncertain_significance Gastrointestinal_stroma_tumor . . HOM Link to ClinVar
402590 389689 Benign not_specified . . HET Link to ClinVar
354395 300534 Benign Vitreoretinopathy
Wagner_syndrome		 0.03171 0.01997 HET Link to ClinVar
354396 300536 Benign Vitreoretinopathy
Wagner_syndrome		 0.0315 0.01997 HET Link to ClinVar
259361 252024 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 0.15265 0.21286 HET Link to ClinVar
198803 195963 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 0.64776 . HET Link to ClinVar
167820 176969 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 0.484 0.47105 HET Link to ClinVar
167823 177101 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 0.38105 0.35843 HET Link to ClinVar
167824 178145 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 0.48379 0.46865 HET Link to ClinVar
198797 195957 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 0.48349 0.47045 HET Link to ClinVar
198798 195958 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 . 0.46845 HET Link to ClinVar
198802 195962 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 0.38119 0.36062 HET Link to ClinVar
259379 252038 Benign Vitreoretinopathy
Wagner_syndrome
not_specified		 0.9755 0.99201 HOM Link to ClinVar
354492 305120 Benign Vitreoretinopathy
Wagner_syndrome		 . 0.56889 HOM Link to ClinVar
354493 304902 Benign Vitreoretinopathy
Wagner_syndrome		 . 0.16993 HOM Link to ClinVar
354494 300623 Benign Vitreoretinopathy
Wagner_syndrome		 . . HOM Link to ClinVar
811536 799424 Benign not_specified . . HOM Link to ClinVar
354570 305013 Benign Intellectual_Disability,_Stereotypic_Movements,_Epilepsy,_and/or_Cerebral_Malformations . 0.70128 HET Link to ClinVar
354574 305209 Benign Intellectual_Disability,_Stereotypic_Movements,_Epilepsy,_and/or_Cerebral_Malformations . . HET Link to ClinVar
670880 661299 Benign not_provided . . HET Link to ClinVar
684337 660958 Benign not_provided . . HET Link to ClinVar
354599 305082 Uncertain_significance Intellectual_Disability,_Stereotypic_Movements,_Epilepsy,_and/or_Cerebral_Malformations . . HET Link to ClinVar
670329 660968 Benign not_provided . . HOM Link to ClinVar
674374 661390 Benign not_provided . . HOM Link to ClinVar
670346 661314 Benign not_provided . . HOM Link to ClinVar
670347 660973 Benign not_provided . . HOM Link to ClinVar
46305 55470 Benign not_specified 0.7322 0.82129 HOM Link to ClinVar
678787 661461 Benign not_provided . . HOM Link to ClinVar
678814 660987 Benign not_provided . . HET Link to ClinVar
46313 55478 Benign not_specified . 0.8103 HOM Link to ClinVar
678816 661465 Benign not_provided . . HET Link to ClinVar
678817 661007 Benign not_provided . . HET Link to ClinVar
678818 661408 Benign not_provided . . HET Link to ClinVar
678794 661470 Benign not_provided . . HOM Link to ClinVar
678796 661009 Benign not_provided . . HOM Link to ClinVar
678797 661010 Benign not_provided . . HOM Link to ClinVar
158652 168549 Benign not_specified
not_provided		 0.48685 0.32268 HET Link to ClinVar
46343 55508 Benign not_specified 0.70777 0.80371 HOM Link to ClinVar
46345 55510 Benign not_specified 0.35417 0.33726 HET Link to ClinVar
46356 55521 Benign not_specified 0.38742 0.34984 HET Link to ClinVar
46358 55523 Benign not_specified 0.38547 0.32209 HET Link to ClinVar
46360 55525 Benign not_specified 0.3729 0.32228 HET Link to ClinVar
46365 55530 Benign not_specified
not_provided		 0.35745 0.32209 HET Link to ClinVar
46379 55544 Benign not_specified 0.70901 0.80851 HOM Link to ClinVar
158654 168551 Benign not_specified
not_provided		 . 0.64717 HET Link to ClinVar
674377 661414 Benign not_provided . . HET Link to ClinVar
678800 661324 Benign not_provided . . HOM Link to ClinVar
674378 661335 Benign not_provided . . HOM Link to ClinVar
678801 661416 Benign not_provided . . HET Link to ClinVar
674379 661012 Benign not_provided . . HOM Link to ClinVar
678802 661343 Benign not_provided . . HOM Link to ClinVar
46403 55568 Benign not_specified 0.06861 0.04653 HET Link to ClinVar
674380 661471 Benign not_provided . . HOM Link to ClinVar
678803 661473 Benign not_provided . . HOM Link to ClinVar
674381 661474 Benign not_provided . . HOM Link to ClinVar
674382 661015 Benign not_provided . . HOM Link to ClinVar
158656 168553 Benign not_specified
not_provided		 0.71052 0.79812 HOM Link to ClinVar
46409 55574 Benign not_specified . . HET Link to ClinVar
158642 168554 Likely_benign not_specified 0.56979 . HOM Link to ClinVar
678805 661476 Benign not_provided . . HOM Link to ClinVar
678806 661420 Benign not_provided . . HOM Link to ClinVar
46248 55413 Benign not_specified
not_provided		 0.74838 0.82907 HOM Link to ClinVar
674384 661422 Benign not_provided . . HOM Link to ClinVar
46252 55417 Benign not_specified
not_provided		 0.03008 0.01737 HET Link to ClinVar
674385 661359 Benign not_provided . . HOM Link to ClinVar
46256 55421 Benign not_specified . . HOM Link to ClinVar
46257 55422 Benign not_specified 0.34647 0.29613 HET Link to ClinVar
46258 55423 Benign not_specified
not_provided		 0.48302 0.53934 HOM Link to ClinVar
674386 661490 Benign not_provided . . HOM Link to ClinVar
678807 661424 Benign not_provided . . HOM Link to ClinVar
667602 661371 Benign not_provided . . HOM Link to ClinVar
46268 55433 Benign not_specified 0.17239 0.09225 HET Link to ClinVar
678810 661382 Benign not_provided . . HOM Link to ClinVar
46282 55447 Benign not_specified 0.96857 0.94609 HOM Link to ClinVar
678812 661441 Benign not_provided . . HOM Link to ClinVar
46285 55450 Benign not_specified 0.99201 0.97224 HOM Link to ClinVar
678813 661028 Benign not_provided . . HOM Link to ClinVar
46291 55456 Benign Usher_syndrome,_type_2C
not_specified		 0.53931 0.45907 HET Link to ClinVar
678815 661029 Benign not_provided . . HOM Link to ClinVar
46299 55464 Benign not_specified 0.9264 0.89836 HOM Link to ClinVar
46300 55465 Benign not_specified 0.12751 0.13818 HOM Link to ClinVar
354634 300730 Likely_benign Proprotein_convertase_1/3_deficiency
Monogenic_Non-Syndromic_Obesity		 . 0.16673 HOM Link to ClinVar
771152 699223 Likely_benign not_provided . . HET Link to ClinVar
683978 660814 Benign not_provided . . HOM Link to ClinVar
671100 660456 Benign not_provided . . HET Link to ClinVar
671104 660824 Benign not_provided . . HET Link to ClinVar
668632 655620 Benign not_provided . . HET Link to ClinVar
262466 251609 Benign Primary_open_angle_glaucoma
not_specified		 0.31847 0.25739 HET Link to ClinVar
262465 251610 Benign Primary_open_angle_glaucoma
not_specified
not_provided		 0.32083 0.25919 HET Link to ClinVar
350362 300351 Benign Primary_open_angle_glaucoma . 0.03694 HET Link to ClinVar
350370 300356 Benign Primary_open_angle_glaucoma . 0.15455 HET Link to ClinVar
82711 93602 other Familial_colorectal_cancer . 0.3728 HET Link to ClinVar
82712 93603 other Familial_colorectal_cancer . 0.98742 HOM Link to ClinVar
82715 93606 other Familial_colorectal_cancer . 0.98482 HOM Link to ClinVar
82717 93608 other Familial_colorectal_cancer . 0.21266 HET Link to ClinVar
82742 93633 other Familial_colorectal_cancer . 0.4359 HET Link to ClinVar
82744 93635 other Familial_colorectal_cancer . 0.60144 HET Link to ClinVar
82748 93639 other Familial_colorectal_cancer . 0.4365 HET Link to ClinVar
82756 93647 other Familial_colorectal_cancer . 0.43091 HET Link to ClinVar
82760 93651 other Familial_colorectal_cancer . . HET Link to ClinVar
82761 93652 other Familial_colorectal_cancer . . HET Link to ClinVar
82766 93657 other Familial_colorectal_cancer . 0.4365 HET Link to ClinVar
82770 93661 other Familial_colorectal_cancer . 0.21346 HET Link to ClinVar
82779 93670 other Familial_colorectal_cancer . 0.4365 HET Link to ClinVar
82795 93686 other Familial_colorectal_cancer . 0.4369 HET Link to ClinVar
82799 93690 other Familial_colorectal_cancer . 0.4355 HET Link to ClinVar
82801 93692 other Familial_colorectal_cancer . 0.61941 HET Link to ClinVar
82807 93698 other Familial_colorectal_cancer . 0.98223 HOM Link to ClinVar
82809 93700 other Familial_colorectal_cancer . . HET Link to ClinVar
82811 93702 other Familial_colorectal_cancer . . HET Link to ClinVar
82823 93714 other Familial_colorectal_cancer . 0.60483 HET Link to ClinVar
82824 93715 other Familial_colorectal_cancer . 0.4379 HET Link to ClinVar
88625 94223 other Familial_colorectal_cancer . 0.98283 HOM Link to ClinVar
82829 93720 other Familial_colorectal_cancer . 0.60324 HET Link to ClinVar
82832 93723 other Familial_colorectal_cancer . 0.1895 HET Link to ClinVar
82836 93727 other Familial_colorectal_cancer . 0.43371 HET Link to ClinVar
82840 93731 other Familial_colorectal_cancer . 0.43111 HET Link to ClinVar
82843 93734 other Familial_colorectal_cancer . 0.45407 HET Link to ClinVar
82845 93736 other Familial_colorectal_cancer . 0.98263 HOM Link to ClinVar
82846 93737 other Familial_colorectal_cancer . 0.4379 HET Link to ClinVar
82847 93738 other Familial_colorectal_cancer . 0.4371 HET Link to ClinVar
82859 93750 other Familial_colorectal_cancer . 0.62101 HET Link to ClinVar
82863 93754 other Familial_colorectal_cancer . 0.9972 HOM Link to ClinVar
82868 93759 other Familial_colorectal_cancer . 0.54293 HET Link to ClinVar
82869 93760 other Familial_colorectal_cancer . 0.98243 HOM Link to ClinVar
82871 93762 other Familial_colorectal_cancer . 0.73782 HET Link to ClinVar
82878 93769 other Familial_colorectal_cancer . 0.4375 HET Link to ClinVar
82880 93771 other Familial_colorectal_cancer . 0.4383 HET Link to ClinVar
82884 93775 other Familial_colorectal_cancer . 0.43291 HET Link to ClinVar
82887 93778 other Familial_colorectal_cancer . 0.4349 HET Link to ClinVar
82889 93780 other Familial_colorectal_cancer . 0.43251 HET Link to ClinVar
82896 93787 other Familial_colorectal_cancer . 0.45587 HET Link to ClinVar
82901 93792 other Familial_colorectal_cancer . 0.63179 HET Link to ClinVar
82910 93801 other Familial_colorectal_cancer . 0.98243 HOM Link to ClinVar
82915 93806 other Familial_colorectal_cancer . 0.43191 HET Link to ClinVar
82924 93815 other Familial_colorectal_cancer . 0.4381 HET Link to ClinVar
82925 93816 other Familial_colorectal_cancer . 0.44549 HET Link to ClinVar
82926 93817 other Familial_colorectal_cancer . 0.7484 HET Link to ClinVar
82927 93818 other Familial_colorectal_cancer . 0.4361 HET Link to ClinVar
82934 93825 other Familial_colorectal_cancer . 0.52496 HET Link to ClinVar
82935 93826 other Familial_colorectal_cancer . 0.64916 HET Link to ClinVar
82939 93830 other Familial_colorectal_cancer . 0.45208 HET Link to ClinVar
82948 93839 other Familial_colorectal_cancer . 0.61721 HET Link to ClinVar
82950 93841 other Familial_colorectal_cancer . 0.43351 HET Link to ClinVar
82966 93857 other Familial_colorectal_cancer . 0.44309 HET Link to ClinVar
82980 93871 other Familial_colorectal_cancer . . HET Link to ClinVar
83012 93903 other Familial_colorectal_cancer . . HET Link to ClinVar
83018 93909 other Familial_colorectal_cancer . 0.46665 HET Link to ClinVar
83019 93910 other Familial_colorectal_cancer . 0.44988 HET Link to ClinVar
83030 93921 other Familial_colorectal_cancer . 0.99101 HOM Link to ClinVar
83031 93922 other Familial_colorectal_cancer . 0.44309 HET Link to ClinVar
83036 93927 other Familial_colorectal_cancer . 0.4389 HET Link to ClinVar
83037 93928 other Familial_colorectal_cancer . 0.4389 HET Link to ClinVar
83046 93937 other Familial_colorectal_cancer . 0.74661 HET Link to ClinVar
83047 93938 other Familial_colorectal_cancer . 0.66534 HET Link to ClinVar
83049 93940 other Familial_colorectal_cancer . 0.4381 HET Link to ClinVar
83070 93961 other Familial_colorectal_cancer . 0.44189 HET Link to ClinVar
83071 93962 other Familial_colorectal_cancer . 0.4349 HET Link to ClinVar
83073 93964 other Familial_colorectal_cancer . 0.73922 HET Link to ClinVar
83075 93966 other Familial_colorectal_cancer . 0.43231 HET Link to ClinVar
83081 93972 other Familial_colorectal_cancer . 0.4361 HET Link to ClinVar
83089 93980 other Familial_colorectal_cancer . 0.78514 HET Link to ClinVar
83110 94001 other Familial_colorectal_cancer . 0.69469 HET Link to ClinVar
83112 94003 other Familial_colorectal_cancer . 0.74661 HET Link to ClinVar
83113 94004 other Familial_colorectal_cancer . 0.69509 HET Link to ClinVar
83118 94009 other Familial_colorectal_cancer . 0.73722 HET Link to ClinVar
83121 94012 other Familial_colorectal_cancer . 0.70567 HET Link to ClinVar
83127 94018 other Familial_colorectal_cancer . 0.73722 HET Link to ClinVar
83128 94019 other Familial_colorectal_cancer . 0.68391 HET Link to ClinVar
83136 94027 other Familial_colorectal_cancer . 0.67911 HET Link to ClinVar
83139 94030 other Familial_colorectal_cancer . 0.99101 HOM Link to ClinVar
83140 94031 other Familial_colorectal_cancer . 0.4357 HET Link to ClinVar
83142 94033 other Familial_colorectal_cancer . 0.81629 HET Link to ClinVar
83152 94043 other Familial_colorectal_cancer . 0.4381 HET Link to ClinVar
83157 94048 other Familial_colorectal_cancer . 0.49701 HET Link to ClinVar
42238 51408 Benign Hepatocellular_carcinoma
Neoplasm_of_stomach
Carcinoma_of_colon
Hereditary_cancer-predisposing_syndrome
Desmoid_disease,_hereditary
Familial_adenomatous_polyposis_1
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided		 0.57798 0.50998 HET Link to ClinVar
83162 94053 other Familial_colorectal_cancer . 0.67412 HET Link to ClinVar
42239 51409 Benign Hereditary_cancer-predisposing_syndrome
Familial_adenomatous_polyposis_1
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided		 0.64811 0.66613 HET Link to ClinVar
83163 94054 other Familial_colorectal_cancer . 0.4399 HET Link to ClinVar
83181 94072 other Familial_colorectal_cancer . 0.43211 HET Link to ClinVar
83182 94073 other Familial_colorectal_cancer . 0.6901 HET Link to ClinVar
83183 94074 other Familial_colorectal_cancer . 0.43391 HET Link to ClinVar
83184 94075 other Familial_colorectal_cancer . 0.62001 HET Link to ClinVar
83185 94076 other Familial_colorectal_cancer . 0.62061 HET Link to ClinVar
83186 94077 other Familial_colorectal_cancer . 0.62021 HET Link to ClinVar
83187 94078 other Familial_colorectal_cancer . 0.62001 HET Link to ClinVar
83196 94087 other Familial_colorectal_cancer . 0.73722 HET Link to ClinVar
83209 94100 other Familial_colorectal_cancer . . HET Link to ClinVar
83226 94117 other Familial_colorectal_cancer . 0.67752 HET Link to ClinVar
83228 94119 other Familial_colorectal_cancer . 0.67552 HET Link to ClinVar
83229 94120 other Familial_colorectal_cancer . 0.5006 HET Link to ClinVar
42242 51412 Benign Hereditary_cancer-predisposing_syndrome
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided		 0.64857 0.66554 HET Link to ClinVar
42243 51413 Benign Hereditary_cancer-predisposing_syndrome
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided		 0.65139 0.66673 HET Link to ClinVar
42245 51415 Benign Hereditary_cancer-predisposing_syndrome
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided		 . 0.66693 HET Link to ClinVar
21030 33882 Benign Hereditary_cancer-predisposing_syndrome
Familial_adenomatous_polyposis_1
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided		 0.79811 0.86542 HOM Link to ClinVar
42247 51417 Benign Hereditary_cancer-predisposing_syndrome
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided		 0.64881 0.66653 HET Link to ClinVar
350430 300417 Benign APC-Associated_Polyposis_Disorders . . HET Link to ClinVar
83260 94151 Benign Familial_colorectal_cancer
APC-Associated_Polyposis_Disorders		 . 0.4369 HET Link to ClinVar
83262 94153 Benign Familial_colorectal_cancer
APC-Associated_Polyposis_Disorders		 . 0.44189 HET Link to ClinVar
83263 94154 Benign Familial_colorectal_cancer
APC-Associated_Polyposis_Disorders		 . 0.69728 HET Link to ClinVar
83268 94159 other Familial_colorectal_cancer . 0.69768 HET Link to ClinVar
83272 94163 other Familial_colorectal_cancer . 0.69768 HET Link to ClinVar
83275 94166 other Familial_colorectal_cancer . 0.51757 HET Link to ClinVar
83276 94167 other Familial_colorectal_cancer . 0.44669 HET Link to ClinVar
83284 94175 other Familial_colorectal_cancer . 0.46286 HET Link to ClinVar
83292 94183 other Familial_colorectal_cancer . 0.70567 HET Link to ClinVar
83296 94187 other Familial_colorectal_cancer . 0.70627 HET Link to ClinVar
83297 94188 other Familial_colorectal_cancer . 0.70587 HET Link to ClinVar
83298 94189 other Familial_colorectal_cancer . 0.44629 HET Link to ClinVar
83300 94191 other Familial_colorectal_cancer . 0.72923 HET Link to ClinVar
769303 777467 Benign not_provided . . HOM Link to ClinVar
769304 698737 Benign not_provided . . HET Link to ClinVar
350457 294951 Benign Bifunctional_peroxisomal_enzyme_deficiency
Perrault_syndrome		 . 0.40635 HET Link to ClinVar
198079 195240 Benign Bifunctional_peroxisomal_enzyme_deficiency
Perrault_syndrome
not_specified
not_provided		 0.44004 0.36262 HET Link to ClinVar
226667 229226 Benign Bifunctional_peroxisomal_enzyme_deficiency
Perrault_syndrome
not_specified
not_provided		 0.41099 0.40016 HET Link to ClinVar
350475 296734 Benign Bifunctional_peroxisomal_enzyme_deficiency
Perrault_syndrome		 . . HET Link to ClinVar
14363 29402 Benign LYSYL_OXIDASE_POLYMORPHISM 0.17281 0.15675 HET Link to ClinVar
769305 698749 Benign not_provided . . HET Link to ClinVar
350520 295016 Benign Pyridoxine-dependent_epilepsy . 0.47185 HOM Link to ClinVar
350531 300529 Benign Pyridoxine-dependent_epilepsy . 0.48562 HOM Link to ClinVar
350545 296855 Uncertain_significance Pyridoxine-dependent_epilepsy . . HOM Link to ClinVar
350549 300605 Benign Pyridoxine-dependent_epilepsy . . HOM Link to ClinVar
350560 295051 Benign Pyridoxine-dependent_epilepsy . 0.49161 HOM Link to ClinVar
350571 300644 Benign Pyridoxine-dependent_epilepsy . 0.57588 HOM Link to ClinVar
350580 300539 Benign Pyridoxine-dependent_epilepsy . 0.36062 HOM Link to ClinVar
670821 660644 Benign not_provided . . HOM Link to ClinVar
667962 660703 Benign not_provided . . HOM Link to ClinVar
674701 660704 Benign not_provided . . HOM Link to ClinVar
350588 300549 Benign/Likely_benign Pyridoxine-dependent_epilepsy 0.03423 0.01238 HET Link to ClinVar
350622 300706 Benign Leukodystrophy,_Adult-Onset 0.67513 0.67272 HOM Link to ClinVar
350623 300712 Benign Leukodystrophy,_Adult-Onset . 0.44788 HOM Link to ClinVar
350631 295112 Likely_benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset . 0.34066 HET Link to ClinVar
683157 660863 Benign not_provided . . HOM Link to ClinVar
683182 660679 Benign not_provided . . HET Link to ClinVar
262060 251627 Benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset
not_specified		 0.94472 0.97344 HOM Link to ClinVar
683183 660509 Benign not_provided . . HET Link to ClinVar
671490 660683 Benign not_provided . . HET Link to ClinVar
262065 251629 Benign/Likely_benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset
not_specified		 0.16239 0.19149 HET Link to ClinVar
671492 660868 Benign not_provided . . HET Link to ClinVar
671513 660775 Benign not_provided . . HET Link to ClinVar
262075 251637 Benign/Likely_benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset
not_specified		 0.14196 0.12061 HET Link to ClinVar
262076 251638 Benign/Likely_benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset
not_specified		 0.52751 0.378 HET Link to ClinVar
350677 300797 Benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset . 0.64157 HOM Link to ClinVar
350681 300798 Likely_benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset . 0.08087 HET Link to ClinVar
350700 295172 Likely_benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset . 0.24581 HET Link to ClinVar
350703 300658 Benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset . 0.63978 HOM Link to ClinVar
350713 297005 Likely_benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset . . HOM Link to ClinVar
350717 300673 Benign Myopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset . 0.64717 HOM Link to ClinVar
350743 295239 Benign Congenital_contractural_arachnodactyly . 0.98562 HOM Link to ClinVar
683537 660909 Benign not_provided . . HOM Link to ClinVar
678490 660546 Benign not_provided . . HOM Link to ClinVar
683536 660914 Benign not_provided . . HOM Link to ClinVar
672325 660922 Benign not_provided . . HOM Link to ClinVar
129049 134495 Benign Congenital_contractural_arachnodactyly
not_specified
Cardiovascular_phenotype		 0.72811 0.72664 HOM Link to ClinVar
137347 141050 Benign Congenital_contractural_arachnodactyly
not_specified
not_provided		 0.51842 0.35763 HOM Link to ClinVar
137345 141048 Benign Congenital_contractural_arachnodactyly
not_specified
not_provided		 0.19683 0.14417 HOM Link to ClinVar
672323 660957 Benign not_provided . . HOM Link to ClinVar
673344 660801 Benign not_provided . . HET Link to ClinVar
671004 660745 Benign not_provided . . HOM Link to ClinVar
672322 660807 Benign not_provided . . HOM Link to ClinVar
672321 660965 Benign not_provided . . HOM Link to ClinVar
683531 660969 Benign not_provided . . HOM Link to ClinVar
672318 660562 Benign not_provided . . HOM Link to ClinVar
683530 660564 Benign not_provided . . HOM Link to ClinVar
669972 660762 Benign not_provided . . HET Link to ClinVar
678489 660847 Benign not_provided . . HOM Link to ClinVar
683529 660785 Benign not_provided . . HOM Link to ClinVar
129039 134485 Benign Congenital_contractural_arachnodactyly
not_specified
Cardiovascular_phenotype
not_provided		 0.72339 0.73103 HOM Link to ClinVar
669639 660991 Benign not_provided . . HET Link to ClinVar
674265 660866 Benign not_provided . . HET Link to ClinVar
674264 660995 Benign not_provided . . HET Link to ClinVar
350798 295269 Benign Congenital_contractural_arachnodactyly . 0.4375 HET Link to ClinVar
675097 660812 Benign not_provided . . HET Link to ClinVar
774633 698766 Benign not_provided . . HET Link to ClinVar
5750 20789 Benign SLC22A4_POLYMORPHISM 0.29127 0.13439 HET Link to ClinVar
350806 300783 Benign Renal_carnitine_transport_defect . 0.73303 HET Link to ClinVar
94099 99999 Benign Renal_carnitine_transport_defect
not_specified
not_provided		 0.49683 0.48622 HET Link to ClinVar
670572 661014 Benign not_provided . . HET Link to ClinVar
25382 36716 Benign Renal_carnitine_transport_defect
not_specified
not_provided		 1 1 HOM Link to ClinVar
25383 36717 Benign Renal_carnitine_transport_defect . 0.48602 HET Link to ClinVar
94101 100001 Benign Renal_carnitine_transport_defect
not_specified
not_provided		 0.43926 0.48622 HET Link to ClinVar
94102 100002 Benign Renal_carnitine_transport_defect
not_specified
not_provided		 0.4399 0.48602 HET Link to ClinVar
670106 660900 Benign not_provided . . HOM Link to ClinVar
670107 660851 Benign not_provided . . HOM Link to ClinVar
350820 300792 Benign Renal_carnitine_transport_defect . . HOM Link to ClinVar
350827 300804 Benign Renal_carnitine_transport_defect . 0.74421 HOM Link to ClinVar
350831 300759 Benign Renal_carnitine_transport_defect . 0.76737 HOM Link to ClinVar
14673 29712 risk_factor Allergic_rhinitis,_susceptibility_to
Asthma,_susceptibility_to		 0.73363 0.73003 HET Link to ClinVar
137459 141162 Benign not_specified 0.14263 0.13478 HET Link to ClinVar
350851 295333 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_type_1 . 0.10543 HET Link to ClinVar
350852 300854 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_type_1 . 0.17073 HET Link to ClinVar
350854 295343 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_type_1 . 0.04792 HET Link to ClinVar
286868 271105 Benign not_specified 0.30014 0.31989 HET Link to ClinVar
218643 215308 Benign not_specified 0.00923 0.00379 HET Link to ClinVar
350923 301103 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.6266 HET Link to ClinVar
350942 297212 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.6268 HET Link to ClinVar
350943 297218 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.30032 HET Link to ClinVar
350956 301170 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.1236 HET Link to ClinVar
350965 301186 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.29553 HET Link to ClinVar
350976 295447 Uncertain_significance Pseudohypoaldosteronism_type_1_autosomal_dominant . . HET Link to ClinVar
260809 251708 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant
not_specified		 0.7926 0.82808 HET Link to ClinVar
167317 177851 Benign Myofibrillar_myopathy_3
not_specified		 0.99591 . HOM Link to ClinVar
667621 661034 Benign not_provided . . HOM Link to ClinVar
770357 777510 Benign not_provided . . HET Link to ClinVar
670083 660862 Benign not_provided . . HET Link to ClinVar
670082 660653 Benign not_provided . . HET Link to ClinVar
670081 660870 Benign not_provided . . HET Link to ClinVar
670080 660657 Benign not_provided . . HET Link to ClinVar
670079 660912 Benign not_provided . . HET Link to ClinVar
96085 101979 Benign Marinesco-Sjögren_syndrome
not_specified
not_provided		 0.43544 0.42692 HET Link to ClinVar
351111 297367 Benign Distal_myopathy 0.63249 0.42033 HET Link to ClinVar
351117 297372 Benign Distal_myopathy . . HET Link to ClinVar
263207 251790 Benign Distal_myopathy
not_specified		 . 0.44649 HET Link to ClinVar
351158 301471 Benign Distal_myopathy 0.62354 . HET Link to ClinVar
351170 297420 Benign Distal_myopathy 0.65741 0.39996 HET Link to ClinVar
403550 389615 Benign Sting-associated_vasculopathy,_infantile-onset
not_specified		 0.87599 0.8728 HOM Link to ClinVar
403551 389619 Benign not_specified . 0.42851 HOM Link to ClinVar
671555 660924 Benign not_provided . . HOM Link to ClinVar
769659 698859 Benign not_provided . . HET Link to ClinVar
768037 698871 Benign not_provided . . HET Link to ClinVar
768038 698873 Benign not_provided . . HET Link to ClinVar
351285 301552 Uncertain_significance Nonsyndromic_Hearing_Loss,_Mixed . 0.0006 HET Link to ClinVar
683199 660930 Likely_benign not_provided . . HET Link to ClinVar
512678 501336 Benign not_specified . . HOM Link to ClinVar
351314 301396 Likely_benign Glucocorticoid_resistance,_generalized . 0.08387 HET Link to ClinVar
351321 301406 Likely_benign Glucocorticoid_resistance,_generalized . 0.40156 HET Link to ClinVar
214569 211128 Benign not_specified 0.00293 0.0022 HET Link to ClinVar
684159 660876 Benign not_provided . . HOM Link to ClinVar
671557 660882 Benign not_provided . . HOM Link to ClinVar
684157 661069 Benign not_provided . . HOM Link to ClinVar
684150 661071 Benign not_provided . . HOM Link to ClinVar
684148 661081 Benign not_provided . . HOM Link to ClinVar
684146 660699 Benign not_provided . . HOM Link to ClinVar
684138 660705 Benign not_provided . . HOM Link to ClinVar
684128 660997 Benign not_provided . . HOM Link to ClinVar
673294 660897 Benign not_provided . . HET Link to ClinVar
260048 251798 Benign/Likely_benign Netherton_syndrome
not_specified		 0.04822 0.06689 HET Link to ClinVar
677108 660925 Benign not_provided . . HET Link to ClinVar
667627 661089 Benign not_provided . . HOM Link to ClinVar
139254 142957 Benign/Likely_benign Netherton_syndrome
not_specified		 0.04423 0.05232 HET Link to ClinVar
673397 660932 Benign not_provided . . HET Link to ClinVar
673297 660721 Benign not_provided . . HET Link to ClinVar
677116 660723 Benign not_provided . . HET Link to ClinVar
139258 142961 Benign Netherton_syndrome
not_specified		 0.2119 0.34824 HET Link to ClinVar
677118 660736 Benign not_provided . . HET Link to ClinVar
139261 142964 Benign/Likely_benign Netherton_syndrome
not_specified		 0.04478 0.05391 HET Link to ClinVar
674424 661102 Benign not_provided . . HET Link to ClinVar
677139 661106 Benign not_provided . . HET Link to ClinVar
667633 661129 Benign not_provided . . HET Link to ClinVar
139263 142966 Benign Netherton_syndrome
not_specified		 0.80848 0.82927 HET Link to ClinVar
674283 661132 Benign not_provided . . HET Link to ClinVar
351541 295922 Benign/Likely_benign Netherton_syndrome 0.02471 0.01018 HET Link to ClinVar
351546 295931 Benign Netherton_syndrome 0.41167 0.49101 HOM Link to ClinVar
351549 301666 Benign Netherton_syndrome . 0.49101 HOM Link to ClinVar
351553 295937 Benign Netherton_syndrome . 0.49101 HOM Link to ClinVar
225937 227753 drug_response salbutamol_response_-_Efficacy
salmeterol_response_-_Efficacy		 0.42036 0.47564 HET Link to ClinVar
351562 301872 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . . HET Link to ClinVar
351593 296006 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.80232 HET Link to ClinVar
351594 296012 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.47165 HET Link to ClinVar
351605 301704 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.50919 HET Link to ClinVar
351609 301939 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.79732 HET Link to ClinVar
351616 296023 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.6234 HET Link to ClinVar
351622 297801 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.78814 HET Link to ClinVar
351634 297822 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.46126 HET Link to ClinVar
351643 301736 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.61801 HET Link to ClinVar
351645 297828 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.79812 HET Link to ClinVar
351658 302017 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.19728 HET Link to ClinVar
351661 302031 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.49361 HET Link to ClinVar
351664 301788 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.19788 HET Link to ClinVar
351694 301849 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.52975 HET Link to ClinVar
351748 301874 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . . HET Link to ClinVar
351758 301896 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.19828 HET Link to ClinVar
351761 302127 Uncertain_significance Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . . HET Link to ClinVar
351769 301906 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.49221 HET Link to ClinVar
351801 301946 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.20288 HET Link to ClinVar
351808 302199 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.52915 HET Link to ClinVar
351835 297965 Uncertain_significance Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.00719 HET Link to ClinVar
351839 301974 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.34964 HET Link to ClinVar
351841 302232 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.99042 HOM Link to ClinVar
351843 302233 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.52975 HET Link to ClinVar
351848 297978 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . . HET Link to ClinVar
351866 297984 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.20347 HET Link to ClinVar
351868 297996 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 . 0.20367 HET Link to ClinVar
351874 301987 Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4		 0.29191 0.3127 HET Link to ClinVar
130299 135746 Benign/Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 . 0.38339 HET Link to ClinVar
670077 661049 Benign not_provided . . HET Link to ClinVar
673389 660956 Benign not_provided . . HET Link to ClinVar
671720 660749 Benign not_provided . . HET Link to ClinVar
672628 660966 Benign not_provided . . HET Link to ClinVar
130298 135745 Benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.97847 0.99062 HOM Link to ClinVar
130297 135744 Benign/Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 . 0.19629 HET Link to ClinVar
130296 135743 Benign/Likely_benign Mononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.44561 0.4371 HET Link to ClinVar
670074 661150 Benign not_provided . . HOM Link to ClinVar
684359 661051 Benign not_provided . . HOM Link to ClinVar
684358 661057 Benign not_provided . . HOM Link to ClinVar
2039 17078 Benign Obesity,_variation_in 0.09619 0.10963 HET Link to ClinVar
351948 298082 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.53914 HET Link to ClinVar
351954 302356 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.54633 HET Link to ClinVar
351962 296264 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.5597 HET Link to ClinVar
351970 298085 Benign Retinitis_Pigmentosa,_Recessive . 0.58406 HET Link to ClinVar
351971 302383 Benign Retinitis_Pigmentosa,_Recessive . 0.59625 HET Link to ClinVar
351972 296270 Benign Retinitis_Pigmentosa,_Recessive . 0.58427 HET Link to ClinVar
351975 302132 Likely_benign Retinitis_Pigmentosa,_Recessive . . HET Link to ClinVar
138632 142335 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.19982 0.249 HET Link to ClinVar
138637 142340 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Recessive		 . 0.28255 HET Link to ClinVar
65559 76467 Benign/Likely_benign Achondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Achondrogenesis,_type_IB
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis_type_2
Atelosteogenesis
not_specified		 0.01692 0.00759 HET Link to ClinVar
196209 193370 Benign Achondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis
not_specified
not_provided		 0.99277 . HOM Link to ClinVar
352046 302205 Benign Achondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis		 . 0.27396 HET Link to ClinVar
352075 302455 Benign Achondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis		 . 0.99201 HOM Link to ClinVar
352088 302486 Benign Achondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis		 . . HET Link to ClinVar
352107 302554 Benign Hereditary_diffuse_leukoencephalopathy_with_spheroids . 0.11601 HET Link to ClinVar
352114 302563 Benign Hereditary_diffuse_leukoencephalopathy_with_spheroids . 0.45228 HET Link to ClinVar
352165 302347 Benign Hereditary_diffuse_leukoencephalopathy_with_spheroids 0.51531 0.38738 HOM Link to ClinVar
352179 302657 Benign Hereditary_diffuse_leukoencephalopathy_with_spheroids 0.48718 0.33526 HOM Link to ClinVar
258779 251818 Benign not_specified 0.34743 0.28534 HET Link to ClinVar
258778 251819 Benign not_specified 0.3564 0.29892 HET Link to ClinVar
712760 721302 Likely_benign not_provided . . HET Link to ClinVar
258776 251821 Benign not_specified 0.28712 0.23642 HET Link to ClinVar
465196 454819 Benign Spastic_paraplegia 0.03411 0.02436 HET Link to ClinVar
352189 296414 Benign Treacher_Collins_Syndrome,_Dominant . 0.9994 HOM Link to ClinVar
130570 136016 Benign/Likely_benign not_specified
Treacher_Collins_Syndrome,_Dominant
not_provided		 0.00875 0.02276 HET Link to ClinVar
130571 136017 Benign/Likely_benign not_specified
Treacher_Collins_Syndrome,_Dominant		 . 0.08147 HET Link to ClinVar
130574 136020 Benign not_specified
Treacher_Collins_Syndrome,_Dominant		 0.29218 0.22404 HET Link to ClinVar
130575 136021 Benign/Likely_benign Treacher_Collins_syndrome_1
not_specified
Treacher_Collins_Syndrome,_Dominant
not_provided		 0.02308 0.01078 HET Link to ClinVar
30716 39673 Pathogenic Inflammatory_bowel_disease_19 0.1913 0.30371 HET Link to ClinVar
167150 176964 Benign Tay-Sachs_disease,_variant_AB
not_specified
not_provided		 0.6645 0.66394 HET Link to ClinVar
167151 177227 Benign Tay-Sachs_disease,_variant_AB
not_specified
not_provided		 0.76227 0.86022 HET Link to ClinVar
352259 302730 Benign Tay-Sachs_disease,_variant_AB 0.44437 0.44349 HET Link to ClinVar
352277 296480 Benign Tay-Sachs_disease,_variant_AB . 0.71066 HET Link to ClinVar
352278 302473 Benign Tay-Sachs_disease,_variant_AB . . HET Link to ClinVar
352281 296485 Benign Tay-Sachs_disease,_variant_AB . . HET Link to ClinVar
352284 302476 Benign Tay-Sachs_disease,_variant_AB . 0.28894 HOM Link to ClinVar
352291 298381 Benign Tay-Sachs_disease,_variant_AB . 0.46406 HOM Link to ClinVar
352300 298400 Benign Tay-Sachs_disease,_variant_AB . . HOM Link to ClinVar
352328 296512 Benign Hyperekplexia . 0.41613 HET Link to ClinVar
48114 57278 Benign Delta-sarcoglycanopathy
not_specified
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.46046 HET Link to ClinVar
670058 661163 Benign not_provided . . HET Link to ClinVar
672529 660756 Benign not_provided . . HET Link to ClinVar
672039 660763 Benign not_provided . . HET Link to ClinVar
48125 57289 Benign Limb-girdle_muscular_dystrophy,_type_2F
Delta-sarcoglycanopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.46605 0.48542 HET Link to ClinVar
672040 661076 Benign not_provided . . HET Link to ClinVar
672041 661077 Benign not_provided . . HOM Link to ClinVar
672042 661000 Benign not_provided . . HOM Link to ClinVar
352353 302542 Benign Delta-sarcoglycanopathy
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.20727 HOM Link to ClinVar
352430 302910 Benign Delta-sarcoglycanopathy
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.92712 HOM Link to ClinVar
352488 296664 Benign Lymphoproliferative_syndrome . 0.83347 HOM Link to ClinVar
257433 251833 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.5 0.44249 HET Link to ClinVar
257436 251834 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.53466 0.50459 HET Link to ClinVar
257434 251835 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.97671 0.98682 HOM Link to ClinVar
352526 303000 Likely_benign Congenital_ichthyosiform_erythroderma . 0.03874 HET Link to ClinVar
352532 303001 Likely_benign Congenital_ichthyosiform_erythroderma . 0.03874 HET Link to ClinVar
352538 302695 Benign Congenital_ichthyosiform_erythroderma . 0.50539 HET Link to ClinVar
352543 298563 Benign Congenital_ichthyosiform_erythroderma . 0.90695 HOM Link to ClinVar
352548 303014 Likely_benign Congenital_ichthyosiform_erythroderma . 0.04932 HET Link to ClinVar
352551 302697 Likely_benign Congenital_ichthyosiform_erythroderma . 0.02476 HET Link to ClinVar
352554 303018 Benign Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive . 0.92033 HOM Link to ClinVar
352569 298595 Benign Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive . 0.35903 HET Link to ClinVar
668791 661194 Benign not_provided . . HET Link to ClinVar
352592 296742 Likely_benign Juvenile_myoclonic_epilepsy . 0.17951 HET Link to ClinVar
670653 661208 Benign not_provided . . HET Link to ClinVar
668790 661040 Benign not_provided . . HET Link to ClinVar
668949 661209 Benign not_provided . . HET Link to ClinVar
256816 251837 Benign not_specified 0.10762 0.07688 HET Link to ClinVar
93431 99338 Benign/Likely_benign Juvenile_myoclonic_epilepsy
not_specified		 0.61914 0.59605 HOM Link to ClinVar
681725 661046 Benign not_provided . . HET Link to ClinVar
352608 302875 Likely_benign Juvenile_myoclonic_epilepsy . 0.58107 HET Link to ClinVar
352614 302888 Likely_benign Juvenile_myoclonic_epilepsy . 0.58047 HET Link to ClinVar
352637 298652 Conflicting_interpretations_of_pathogenicity Seizures
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy		 . . HET Link to ClinVar
93434 99341 Benign Seizures
Familial_febrile_seizures_8
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
not_provided		 0.28541 0.37161 HET Link to ClinVar
681742 661109 Benign not_provided . . HET Link to ClinVar
585903 576800 Benign not_provided 0.82058 0.82129 HOM Link to ClinVar
675185 661217 Benign not_provided . . HET Link to ClinVar
680292 661221 Benign not_provided . . HOM Link to ClinVar
674989 661056 Benign not_provided . . HET Link to ClinVar
352655 298702 Benign Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy		 . 0.37939 HET Link to ClinVar
352656 302924 Benign Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy		 . 0.51458 HET Link to ClinVar
352671 296799 Benign Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy		 . 0.30232 HET Link to ClinVar
1213 16252 association Memory_quantitative_trait_locus . 0.52057 HET Link to ClinVar
380030 368366 Benign Leukodystrophy,_hypomyelinating,_9
not_specified		 . 0.68031 HET Link to ClinVar
683648 661245 Benign not_provided . . HET Link to ClinVar
673398 661136 Benign not_provided . . HET Link to ClinVar
380005 368381 Benign not_specified 0.67711 0.78415 HET Link to ClinVar
802175 790535 Benign Immunodeficiency_40 . . HOM Link to ClinVar
260212 251840 Benign Pendred_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Mixed		 0.9089 0.92951 HOM Link to ClinVar
352717 298785 Benign Pendred_syndrome
Nonsyndromic_Hearing_Loss,_Mixed		 . 0.91673 HOM Link to ClinVar
352719 303136 Likely_benign Pendred_syndrome
Nonsyndromic_Hearing_Loss,_Mixed		 . 0.86861 HET Link to ClinVar
352729 303002 Benign Frank_Ter_Haar_syndrome . 0.6855 HOM Link to ClinVar
352738 303009 Likely_benign Frank_Ter_Haar_syndrome . 0.11122 HET Link to ClinVar
352747 298798 Benign Frank_Ter_Haar_syndrome . 0.71586 HOM Link to ClinVar
352753 296845 Benign Frank_Ter_Haar_syndrome . . HET Link to ClinVar
352755 298803 Benign Frank_Ter_Haar_syndrome . 0.5647 HET Link to ClinVar
352758 296848 Benign Frank_Ter_Haar_syndrome . 0.58946 HET Link to ClinVar
352766 298810 Benign Frank_Ter_Haar_syndrome . 0.5611 HET Link to ClinVar
352770 303251 Benign Frank_Ter_Haar_syndrome . 0.55272 HET Link to ClinVar
352774 296852 Benign Frank_Ter_Haar_syndrome . 0.61342 HET Link to ClinVar
352775 296861 Benign Frank_Ter_Haar_syndrome . 0.68331 HET Link to ClinVar
352777 303090 Benign Frank_Ter_Haar_syndrome . 0.70308 HET Link to ClinVar
352786 298829 Benign Frank_Ter_Haar_syndrome . 0.54932 HET Link to ClinVar
593782 584845 Uncertain_significance not_provided 0.00016 . HET Link to ClinVar
257058 251843 Benign Frank_Ter_Haar_syndrome
not_specified
not_provided		 0.74129 0.78275 HET Link to ClinVar
257056 251844 Benign Frank_Ter_Haar_syndrome
not_specified		 0.36127 0.3746 HET Link to ClinVar
352831 303303 Likely_benign Frank_Ter_Haar_syndrome . 0.04253 HET Link to ClinVar
352832 303304 Benign Frank_Ter_Haar_syndrome . 0.21665 HET Link to ClinVar
44837 54004 Benign not_specified
Cardiovascular_phenotype		 0.40522 0.53574 HOM Link to ClinVar
258657 251846 Benign Craniosynostosis
Enlarged_parietal_foramina
Parietal_foramina_1
not_specified		 . 0.76578 HET Link to ClinVar
352849 303322 Benign Craniosynostosis
Enlarged_parietal_foramina		 . 0.78095 HET Link to ClinVar
352858 298886 Benign Craniosynostosis
Enlarged_parietal_foramina		 . . HOM Link to ClinVar
352862 303333 Benign Craniosynostosis
Enlarged_parietal_foramina		 . 0.77596 HET Link to ClinVar
352863 298892 Benign Craniosynostosis
Enlarged_parietal_foramina		 . 0.77576 HET Link to ClinVar
352864 298907 Benign Craniosynostosis
Enlarged_parietal_foramina		 . 0.82987 HET Link to ClinVar
511081 501106 Likely_benign not_specified 0.68007 0.75539 HOM Link to ClinVar
16326 31365 Pathogenic Cancer_progression_and_tumor_cell_motility 0.32098 0.29952 HET Link to ClinVar
667729 661172 Benign not_provided . . HOM Link to ClinVar
802180 790540 Benign Sotos_syndrome_1 . . HET Link to ClinVar
96035 101929 Benign Sotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.29991 0.46805 HET Link to ClinVar
96038 101932 Benign Sotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.17646 . HET Link to ClinVar
96042 101936 Benign Sotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified		 . 0.22863 HET Link to ClinVar
96043 101937 Benign Sotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.19869 0.2496 HET Link to ClinVar
670474 661112 Benign not_provided . . HOM Link to ClinVar
667732 660844 Benign not_provided . . HET Link to ClinVar
673609 661176 Likely_benign not_provided . . HET Link to ClinVar
96073 101967 Benign Sotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified		 . 0.77137 HET Link to ClinVar
352925 297072 Benign Sotos_syndrome
Weaver_syndrome		 . 0.76398 HET Link to ClinVar
352932 298992 Benign Sotos_syndrome
Weaver_syndrome		 . 0.22923 HET Link to ClinVar
352946 303412 Uncertain_significance Sotos_syndrome
Weaver_syndrome		 . . . Link to ClinVar
352994 299067 Likely_benign Factor_XII_deficiency_disease
Hereditary_Angioedema		 0.00073 0.0004 HET Link to ClinVar
256310 251869 Benign Factor_XII_deficiency_disease
not_specified
Hereditary_Angioedema		 . 0.9395 HOM Link to ClinVar
383778 368113 Benign Ehlers-Danlos_syndrome_progeroid_type
not_specified		 0.66084 0.66134 HOM Link to ClinVar
678008 661121 Benign Ehlers-Danlos_syndrome_progeroid_type
not_provided		 . . HOM Link to ClinVar
683273 661124 Benign not_provided . . HET Link to ClinVar
377547 369819 Benign Ehlers-Danlos_syndrome_progeroid_type
not_specified		 0.59031 0.60503 HOM Link to ClinVar
678450 661130 Benign not_provided . . HOM Link to ClinVar
353009 299071 Likely_benign Combined_Pituitary_Hormone_Deficiency,_Recessive . 0.22664 HET Link to ClinVar
196434 193595 Benign/Likely_benign not_specified
Combined_Pituitary_Hormone_Deficiency,_Recessive
not_provided		 0.24498 0.20467 HET Link to ClinVar
353016 303460 Benign not_specified
Combined_Pituitary_Hormone_Deficiency,_Recessive		 0.51135 0.50659 HOM Link to ClinVar
99647 105536 not_provided not_provided . 0.45587 HOM Link to ClinVar
99629 105518 not_provided not_provided 0.6064 0.54453 HET Link to ClinVar
99628 105517 Benign not_specified
not_provided		 0.5997 0.53554 HET Link to ClinVar
99627 105516 Benign not_specified
not_provided		 0.53283 0.50699 HET Link to ClinVar
198105 195266 Benign not_specified 0.99519 0.98602 HOM Link to ClinVar
99626 105515 Benign not_specified
not_provided		 0.52564 . HET Link to ClinVar
99625 105514 Benign not_specified
not_provided		 0.72414 0.72165 HOM Link to ClinVar
93438 99345 Benign not_specified
not_provided		 0.48906 0.55192 HET Link to ClinVar
353048 299123 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type . 0.34625 HET Link to ClinVar
353064 303530 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type . 0.80451 HOM Link to ClinVar
353073 299155 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type . 0.52456 HOM Link to ClinVar
353080 303573 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type . 0.52336 HOM Link to ClinVar
682706 660846 Benign not_provided . . HOM Link to ClinVar
683136 661277 Benign not_provided . . HET Link to ClinVar
288085 272322 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type
not_specified
not_provided		 0.31131 0.23123 HET Link to ClinVar
288084 272321 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type
not_specified
not_provided		 0.26705 0.22844 HET Link to ClinVar
353129 297224 Benign/Likely_benign Ehlers-Danlos_syndrome_dermatosparaxis_type
not_specified		 0.17224 0.13578 HET Link to ClinVar
353130 303644 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type
not_specified
not_provided		 0.92962 0.92452 HOM Link to ClinVar
353134 299197 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type
not_specified
not_provided		 0.35542 0.43191 HET Link to ClinVar
682686 661310 Benign not_provided . . HET Link to ClinVar
226018 227754 drug_response aspirin_response_-_Toxicity/ADR . 0.17013 HOM Link to ClinVar
259189 251873 Benign/Likely_benign Paget_disease_of_bone
Paget_disease_of_bone_2,_early-onset
not_specified
not_provided		 0.62479 0.69369 HOM Link to ClinVar
259191 251875 Benign/Likely_benign Paget_disease_of_bone
Paget_disease_of_bone_2,_early-onset
not_specified
not_provided		 0.61145 0.58726 HOM Link to ClinVar
353182 297272 Likely_benign Paget_disease_of_bone 0.62624 0.6879 HOM Link to ClinVar
353186 297284 Likely_benign Paget_disease_of_bone 0.63291 0.72284 HOM Link to ClinVar
263052 251885 Benign not_specified . 0.08686 HET Link to ClinVar
263044 251893 Benign not_specified 0.26997 0.24042 HOM Link to ClinVar
263036 251900 Benign not_specified 0.98759 0.96006 HOM Link to ClinVar
263033 251902 Benign not_specified 0.07643 0.09625 HET Link to ClinVar
263034 251903 Benign not_specified 0.24225 0.24321 HOM Link to ClinVar
263022 251914 Benign not_specified 0.05222 0.08327 HET Link to ClinVar
263021 251915 Benign not_specified 0.05322 0.08606 HET Link to ClinVar
263020 251916 Benign not_specified 0.98111 0.94149 HOM Link to ClinVar
263072 251922 Benign not_specified 0.29964 0.21246 HOM Link to ClinVar
263070 251925 Benign not_specified 0.03371 0.03235 HET Link to ClinVar
160346 170189 Affects Skin/hair/eye_pigmentation,_variation_in,_8 . 0.03674 HET Link to ClinVar
769313 699313 Likely_benign not_provided . . HET Link to ClinVar
193213 190378 Benign not_specified . . HET Link to ClinVar
44132 53300 Benign not_specified 0.26445 0.21286 HET Link to ClinVar
378835 368891 Benign/Likely_benign not_specified
not_provided		 0.54875 0.40056 HET Link to ClinVar
680824 661694 Benign not_provided . . HOM Link to ClinVar
680632 662253 Benign not_provided . . HOM Link to ClinVar
680628 661802 Benign not_provided . . HET Link to ClinVar
680627 662244 Benign not_provided . . HET Link to ClinVar
680630 662246 Benign not_provided . . HET Link to ClinVar
380035 370498 Benign not_specified
not_provided		 0.35772 0.40296 HOM Link to ClinVar
676278 655746 Benign not_provided . . HET Link to ClinVar
676277 661805 Benign not_provided . . HET Link to ClinVar
676237 662250 Benign not_provided . . HOM Link to ClinVar
680626 662252 Benign not_provided . . HOM Link to ClinVar
680634 662254 Benign not_provided . . HOM Link to ClinVar
137292 140995 Benign Combined_oxidative_phosphorylation_deficiency_14
not_specified
not_provided		 . 0.23522 HET Link to ClinVar
680564 661812 Benign not_provided . . HET Link to ClinVar
680572 662256 Benign not_provided . . HOM Link to ClinVar
357650 300849 Likely_benign Factor_XIII_subunit_A_deficiency . 0.09345 HET Link to ClinVar
357662 308466 Likely_benign Factor_XIII_subunit_A_deficiency . 0.14217 HET Link to ClinVar
357663 308467 Likely_benign Factor_XIII_subunit_A_deficiency . 0.52336 HOM Link to ClinVar
255186 252445 Benign/Likely_benign Factor_XIII_subunit_A_deficiency
not_specified		 0.2087 0.19389 HOM Link to ClinVar
255185 252446 Benign/Likely_benign Factor_XIII_subunit_A_deficiency
not_specified		 0.06759 0.07228 HET Link to ClinVar
255183 252448 Conflicting_interpretations_of_pathogenicity Factor_XIII_subunit_A_deficiency
not_specified
not_provided		 0.21596 0.24042 HOM Link to ClinVar
255182 252449 Benign not_specified 0.00916 0.00978 HET Link to ClinVar
16532 31571 Conflicting_interpretations_of_pathogenicity Factor_XIII_subunit_A_deficiency
Venous_thrombosis,_protection_against
Myocardial_infarction,_protection_against
not_specified
not_provided		 . 0.14776 HET Link to ClinVar
357680 300863 Benign Factor_XIII_subunit_A_deficiency . 0.88199 HOM Link to ClinVar
683473 661960 Benign not_provided . . HET Link to ClinVar
668834 661964 Benign not_provided . . HET Link to ClinVar
683487 662338 Benign not_provided . . HET Link to ClinVar
137167 140870 Benign not_specified 0.19526 0.15615 HET Link to ClinVar
672203 662354 Benign not_provided . . HET Link to ClinVar
44952 54119 Likely_benign not_specified . 1 HOM Link to ClinVar
678481 662389 Benign not_provided . . HET Link to ClinVar
672130 662321 Benign not_provided . . HET Link to ClinVar
259381 252531 Benign not_specified
not_provided		 0.75864 0.77276 HET Link to ClinVar
672132 662362 Benign not_provided . . HET Link to ClinVar
672133 662330 Benign not_provided . . HET Link to ClinVar
683475 662334 Benign not_provided . . HOM Link to ClinVar
671015 662336 Benign not_provided . . HET Link to ClinVar
44870 54037 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.76144 0.77436 HET Link to ClinVar
672134 662341 Benign not_provided . . HOM Link to ClinVar
672204 662393 Benign not_provided . . HET Link to ClinVar
44877 54044 Benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
not_specified
Cardiovascular_phenotype		 0.77179 0.73542 HET Link to ClinVar
672205 662370 Benign not_provided . . HET Link to ClinVar
44886 54053 Benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
not_specified
Cardiovascular_phenotype		 0.24383 0.27516 HET Link to ClinVar
672135 662345 Benign not_provided . . HOM Link to ClinVar
683476 662347 Benign not_provided . . HET Link to ClinVar
678482 661994 Benign not_provided . . HET Link to ClinVar
259383 252533 Benign not_specified
not_provided		 0.77316 0.74002 HET Link to ClinVar
259384 252534 Benign not_specified
not_provided		 0.77988 0.76438 HET Link to ClinVar
672137 662353 Benign not_provided . . HET Link to ClinVar
672138 662000 Benign not_provided . . HET Link to ClinVar
672149 662355 Benign not_provided . . HET Link to ClinVar
44925 54092 Benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
not_specified
Cardiovascular_phenotype
not_provided		 0.17241 0.24042 HET Link to ClinVar
44947 54114 Benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
not_specified
Cardiovascular_phenotype
not_provided		 0.28806 0.21166 HET Link to ClinVar
44967 54134 Benign Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8
Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis
not_specified
Cardiovascular_phenotype		 0.71167 0.70947 HET Link to ClinVar
357973 304041 Benign Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic		 . 0.27356 HET Link to ClinVar
357974 308774 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic		 . 0.00919 HET Link to ClinVar
369512 353741 Benign Hypoparathyroidism_familial_isolated . 0.98562 HOM Link to ClinVar
402937 389713 Benign not_specified 0.31989 0.248 HOM Link to ClinVar
16652 31691 Benign High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7
not_provided		 0.23446 0.2474 HET Link to ClinVar
262012 252214 Benign not_specified . 0.88838 HET Link to ClinVar
262009 252217 Benign Hermansky-Pudlak_syndrome
not_specified		 0.17743 0.11382 HET Link to ClinVar
15961 31000 Benign GMP_REDUCTASE_POLYMORPHISM 0.5444 0.70627 HET Link to ClinVar
128505 133954 Likely_benign not_specified . 0.78015 HET Link to ClinVar
682615 662024 Benign not_provided . . HOM Link to ClinVar
516888 501923 Benign not_specified 0.63927 0.51697 HOM Link to ClinVar
128343 133792 Benign Succinate-semialdehyde_dehydrogenase_deficiency
not_specified		 0.3195 0.3147 HET Link to ClinVar
356135 302268 Benign Succinate-semialdehyde_dehydrogenase_deficiency 0.22413 0.19269 HET Link to ClinVar
356145 299675 Benign Succinate-semialdehyde_dehydrogenase_deficiency . 0.38059 HET Link to ClinVar
356175 306974 Benign Succinate-semialdehyde_dehydrogenase_deficiency . 0.26797 HET Link to ClinVar
517548 496515 Benign not_specified 0.46084 0.35783 HOM Link to ClinVar
517553 496900 Benign not_specified 0.13135 0.09904 HET Link to ClinVar
499652 491076 Benign not_specified 0.80783 0.75399 HOM Link to ClinVar
508154 496434 Benign not_specified 0.19846 0.22684 HET Link to ClinVar
129225 134671 Benign/Likely_benign Hereditary_hemochromatosis
not_specified
not_provided		 0.3686 0.42672 HET Link to ClinVar
162166 171879 not_provided not_provided . 0.76578 HOM Link to ClinVar
380148 369052 Benign not_specified
not_provided		 0.6417 0.62979 HOM Link to ClinVar
380149 369054 Benign not_specified
not_provided		 0.3215 0.22205 HOM Link to ClinVar
380150 368843 Benign not_specified
not_provided		 . 0.22205 HOM Link to ClinVar
380151 368851 Benign not_specified
not_provided		 0.32031 0.22205 HOM Link to ClinVar
669590 662185 Benign not_provided . . HOM Link to ClinVar
669591 662048 Benign not_provided . . HOM Link to ClinVar
669592 662187 Benign not_provided . . HOM Link to ClinVar
669593 661678 Benign not_provided . . HOM Link to ClinVar
669594 662051 Benign not_provided . . HOM Link to ClinVar
676450 661680 Benign not_provided . . HOM Link to ClinVar
380153 369066 Benign not_specified
not_provided		 0.32468 0.22205 HOM Link to ClinVar
380154 370328 Benign Combined_oxidative_phosphorylation_deficiency_20
not_specified
not_provided		 0.60105 0.61621 HOM Link to ClinVar
380155 370350 Benign not_specified
not_provided		 0.31965 0.22224 HOM Link to ClinVar
380157 369077 Benign Combined_oxidative_phosphorylation_deficiency_20
not_specified
not_provided		 0.32402 0.22205 HOM Link to ClinVar
380158 368868 Benign not_specified . 0.22205 HOM Link to ClinVar
380159 368876 Benign not_specified
not_provided		 0.60564 0.61582 HOM Link to ClinVar
380160 368601 Benign not_specified
not_provided		 0.34455 0.22205 HOM Link to ClinVar
684325 662148 Benign not_provided . . HOM Link to ClinVar
669595 662056 Benign not_provided . . HOM Link to ClinVar
380162 368602 Benign not_specified
not_provided		 0.32948 0.22304 HOM Link to ClinVar
380163 369083 Benign not_specified
not_provided		 0.75301 0.70787 HOM Link to ClinVar
14907 29946 risk_factor HIV-1_viremia,_susceptibility_to . 0.36761 HOM Link to ClinVar
403084 389723 Benign not_specified 0.48356 0.58247 HOM Link to ClinVar
403085 389660 Benign not_specified 0.49998 0.58327 HOM Link to ClinVar
12389 27428 risk_factor Alzheimer_disease,_susceptibility_to
Vascular_dementia,_susceptibility_to		 . 0.09904 HOM Link to ClinVar
356272 302401 Benign Macular_degeneration
Atypical_hemolytic_uremic_syndrome
Complement_component_2_deficiency		 0.83055 0.85543 HOM Link to ClinVar
356318 307147 Benign Trichohepatoenteric_syndrome
not_specified		 0.76995 0.81669 HOM Link to ClinVar
356345 302482 Benign Trichohepatoenteric_syndrome
not_specified		 0.78261 0.83966 HOM Link to ClinVar
256286 252221 Benign not_specified 0.78912 . HOM Link to ClinVar
65608 76516 Benign Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency
not_specified
not_provided		 0.33408 0.21486 HOM Link to ClinVar
261115 252249 Benign not_specified 0.47783 0.46186 HOM Link to ClinVar
261173 252278 Benign not_specified 0.0228 0.00659 HOM Link to ClinVar
261162 252289 Benign Ehlers-Danlos-like_syndrome_due_to_tenascin-X_deficiency
not_specified		 0.71922 0.69609 HOM Link to ClinVar
261159 252292 Benign not_specified 0.69068 0.63998 HOM Link to ClinVar
261156 252295 Benign not_specified 0.60082 0.59864 HOM Link to ClinVar
261152 252299 Benign not_specified 0.37912 0.21845 HOM Link to ClinVar
261150 252301 Benign not_specified 0.4401 0.39876 HOM Link to ClinVar
261136 252312 Benign not_specified . 0.58626 HOM Link to ClinVar
95242 101141 Benign not_specified . 0.97983 HOM Link to ClinVar
46568 55733 Benign/Likely_benign Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant		 0.01934 0.00679 HOM Link to ClinVar
674800 661705 Benign not_provided . . HOM Link to ClinVar
674799 661712 Benign not_provided . . HOM Link to ClinVar
674781 662156 Benign not_provided . . HOM Link to ClinVar
674780 661724 Benign not_provided . . HOM Link to ClinVar
674779 662194 Benign not_provided . . HOM Link to ClinVar
674777 662075 Benign not_provided . . HOM Link to ClinVar
46566 55731 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant		 0.75628 0.80531 HOM Link to ClinVar
46564 55729 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant		 0.78675 0.86941 HOM Link to ClinVar
674776 662077 Benign not_provided . . HOM Link to ClinVar
674775 662079 Benign not_provided . . HOM Link to ClinVar
674774 661743 Benign not_provided . . HOM Link to ClinVar
46562 55727 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant		 0.78709 0.8782 HOM Link to ClinVar
262310 252332 Benign not_specified
not_provided		 . 0.64517 HOM Link to ClinVar
674772 662088 Benign not_provided . . HOM Link to ClinVar
46560 55725 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant		 0.60065 0.64317 HOM Link to ClinVar
262309 252333 Benign not_specified
not_provided		 0.78233 0.86921 HOM Link to ClinVar
674770 662162 Benign not_provided . . HOM Link to ClinVar
674768 662101 Benign not_provided . . HOM Link to ClinVar
46558 55723 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant		 0.47882 0.54713 HOM Link to ClinVar
46555 55720 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant		 1 1 HOM Link to ClinVar
675092 661751 Benign not_provided . . HOM Link to ClinVar
403518 389769 Benign Bare_lymphocyte_syndrome_type_1
not_specified		 0.56815 0.59125 HOM Link to ClinVar
403519 389749 Benign not_specified 0.54652 0.53434 HOM Link to ClinVar
130526 135972 Benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.10467 0.05012 HET Link to ClinVar
669588 662170 Benign not_provided . . HOM Link to ClinVar
669587 662117 Benign not_provided . . HET Link to ClinVar
671160 661775 Benign not_provided . . HET Link to ClinVar
356425 306941 Benign Diamond-Blackfan_anemia . 0.9976 HOM Link to ClinVar
356434 302561 Benign Diamond-Blackfan_anemia . 0.07009 HET Link to ClinVar
708924 722010 Benign not_provided . . HET Link to ClinVar
261434 252336 Benign not_specified 0.72009 0.77656 HOM Link to ClinVar
261435 252337 Benign Fanconi_anemia
not_specified
not_provided		 . 0.77796 HOM Link to ClinVar
261436 252338 Benign not_specified 0.49656 0.35963 HOM Link to ClinVar
94127 100027 Benign Leber_congenital_amaurosis
Leber_congenital_amaurosis_1
not_specified
Retinitis_Pigmentosa,_Recessive		 0.82147 0.83846 HET Link to ClinVar
286865 271102 Benign Leber_congenital_amaurosis
not_specified
Retinitis_Pigmentosa,_Recessive		 . 0.8744 HET Link to ClinVar
226001 227758 drug_response antidepressants_response_-_Efficacy
citalopram_response_-_Efficacy
fluoxetine_response_-_Efficacy
Selective_serotonin_reuptake_inhibitors_response_-_Efficacy
mirtazapine_response_-_Efficacy
paroxetine_response_-_Efficacy
venlafaxine_response_-_Efficacy		 . 0.77796 HET Link to ClinVar
402546 389770 Benign not_specified 0.17045 . HET Link to ClinVar
356545 302686 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.29373 HET Link to ClinVar
356546 307044 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . HET Link to ClinVar
356552 300016 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . HET Link to ClinVar
257572 252342 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.37537 0.41833 HOM Link to ClinVar
257570 252345 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.26315 0.24042 HET Link to ClinVar
257571 252346 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.64017 0.64836 HOM Link to ClinVar
789885 710492 Benign not_provided . . HET Link to ClinVar
414389 395757 Benign Primary_ciliary_dyskinesia 0.02501 0.02097 HET Link to ClinVar
257631 252347 Benign not_specified 0.15025 0.08147 HET Link to ClinVar
257626 252348 Benign not_specified 0.43897 0.49321 HET Link to ClinVar
402771 389763 Benign/Likely_benign not_specified
not_provided		 0.00511 0.00419 HET Link to ClinVar
257628 252350 Benign not_specified 0.40029 0.32847 HET Link to ClinVar
257629 252351 Benign not_specified 0.39428 0.32867 HET Link to ClinVar
356672 302841 Benign Combined_molybdoflavoprotein_enzyme_deficiency . 0.6234 HET Link to ClinVar
356684 307228 Likely_benign Cone/cone-rod_dystrophy 0.69096 0.66773 HET Link to ClinVar
356736 307298 Likely_benign Retinitis_Pigmentosa,_Dominant 0.63747 0.58486 HOM Link to ClinVar
501953 493377 Benign not_specified 0.85038 0.87899 HOM Link to ClinVar
356749 302880 Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.7514 HET Link to ClinVar
356750 307353 Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.75439 HET Link to ClinVar
356756 307355 Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.21446 HET Link to ClinVar
356759 302916 Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.21446 HET Link to ClinVar
356762 300161 Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.75439 HET Link to ClinVar
356764 302934 Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.75459 HET Link to ClinVar
356765 307361 Uncertain_significance Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . . HET Link to ClinVar
138906 142609 Benign/Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
not_specified
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
not_provided		 0.77898 0.75739 HET Link to ClinVar
138905 142608 Benign/Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
not_specified
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 0.91168 0.94129 HOM Link to ClinVar
138904 142607 Benign/Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
not_specified
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 0.7774 0.75659 HET Link to ClinVar
255827 252355 Benign not_specified 0.21914 0.21206 HET Link to ClinVar
92846 98753 Benign/Likely_benign Pigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
not_specified
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 0.57747 0.58447 HET Link to ClinVar
356786 300174 Benign PEX6_POLYMORPHISM
Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 . . HET Link to ClinVar
92781 98688 Benign not_specified
not_provided		 0.49102 0.49381 HET Link to ClinVar
559074 549606 Benign not_provided 0.49104 0.49401 HET Link to ClinVar
559075 549607 Benign not_provided 0.49045 0.4976 HET Link to ClinVar
92791 98698 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.37763 0.28974 HET Link to ClinVar
92789 98696 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.44935 0.33187 HET Link to ClinVar
356808 300204 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_provided		 . 0.33387 HET Link to ClinVar
260435 252368 Benign not_specified . . HOM Link to ClinVar
12223 27262 risk_factor Microvascular_complications_of_diabetes_1 . 0.67392 HOM Link to ClinVar
162168 171881 not_provided not_provided . 0.67392 HOM Link to ClinVar
357026 307681 Benign Combined_oxidative_phosphorylation_deficiency . . HOM Link to ClinVar
357032 307832 Benign Combined_oxidative_phosphorylation_deficiency . 0.86941 HOM Link to ClinVar
357033 300337 Benign Combined_oxidative_phosphorylation_deficiency . 0.20647 HET Link to ClinVar
357035 300339 Benign Combined_oxidative_phosphorylation_deficiency . . HOM Link to ClinVar
357043 307865 Benign Combined_oxidative_phosphorylation_deficiency . . HOM Link to ClinVar
357044 307869 Benign Combined_oxidative_phosphorylation_deficiency . . HOM Link to ClinVar
357045 307686 Benign Combined_oxidative_phosphorylation_deficiency . 0.86761 HOM Link to ClinVar
357048 303155 Benign Combined_oxidative_phosphorylation_deficiency . 0.86941 HOM Link to ClinVar
357050 307870 Benign Combined_oxidative_phosphorylation_deficiency . 0.86941 HOM Link to ClinVar
357055 303162 Benign Combined_oxidative_phosphorylation_deficiency
not_provided		 0.9426 0.86941 HOM Link to ClinVar
357059 300361 Benign Combined_oxidative_phosphorylation_deficiency_8
Combined_oxidative_phosphorylation_deficiency
not_provided		 0.7015 0.58267 HET Link to ClinVar
682696 661779 Benign not_provided . . HOM Link to ClinVar
682694 662242 Benign not_provided . . HET Link to ClinVar
672773 661782 Benign not_provided . . HET Link to ClinVar
682693 662137 Benign not_provided . . HOM Link to ClinVar
669454 662150 Benign not_provided . . HET Link to ClinVar
506168 496577 Benign not_specified . . HET Link to ClinVar
508561 496472 Benign not_specified 0.23455 0.19629 HET Link to ClinVar
508092 496912 Benign not_specified
not_provided		 0.04663 0.03614 HET Link to ClinVar
508560 502010 Benign not_specified 0.2498 0.22125 HET Link to ClinVar
7916 22955 risk_factor Asthma_and_atopy,_susceptibility_to
not_provided		 0.80334 0.8103 HET Link to ClinVar
56163 70802 not_provided not_provided 0.30326 0.31749 HET Link to ClinVar
357156 307805 Uncertain_significance Focal_segmental_glomerulosclerosis . . HET Link to ClinVar
357157 300455 Benign Focal_segmental_glomerulosclerosis . 0.60623 HET Link to ClinVar
357162 307991 Benign Focal_segmental_glomerulosclerosis . 0.95268 HET Link to ClinVar
260181 252387 Benign Focal_segmental_glomerulosclerosis
Focal_segmental_glomerulosclerosis_3,_susceptibility_to
not_specified		 0.99415 0.98303 HOM Link to ClinVar
260183 252388 Benign not_specified 0.0116 0.04054 HET Link to ClinVar
357183 300480 Benign Focal_segmental_glomerulosclerosis . . HET Link to ClinVar
357222 308038 Benign Focal_segmental_glomerulosclerosis . 0.53035 HET Link to ClinVar
357225 307895 Benign Focal_segmental_glomerulosclerosis . . HET Link to ClinVar
357228 300504 Benign Focal_segmental_glomerulosclerosis . 0.94109 HET Link to ClinVar
357235 300512 Benign Methylmalonic_acidemia . 0.32927 HOM Link to ClinVar
357290 303422 Benign Char_syndrome . 0.86322 HOM Link to ClinVar
357303 308011 Conflicting_interpretations_of_pathogenicity Char_syndrome . . HOM Link to ClinVar
357319 308018 Benign Char_syndrome . 0.73602 HOM Link to ClinVar
357329 308129 Benign Char_syndrome . 0.9393 HOM Link to ClinVar
357358 308144 Benign Autosomal_recessive_polycystic_kidney_disease . 0.6867 HET Link to ClinVar
357362 308048 Benign Autosomal_recessive_polycystic_kidney_disease . 0.75479 HET Link to ClinVar
357368 308051 Benign Autosomal_recessive_polycystic_kidney_disease . 0.88339 HOM Link to ClinVar
357398 308176 Benign Autosomal_recessive_polycystic_kidney_disease . 0.99681 HOM Link to ClinVar
96376 102270 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.56297 0.56569 HET Link to ClinVar
96372 102266 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.55504 0.55332 HET Link to ClinVar
96441 102335 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.40414 0.38598 HET Link to ClinVar
96438 102332 Benign not_specified 0.74163 0.85943 HET Link to ClinVar
262421 252407 Benign not_specified 0.43375 0.40016 HET Link to ClinVar
96429 102323 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified		 0.38611 0.36761 HET Link to ClinVar
96423 102317 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.4339 0.53894 HET Link to ClinVar
96422 102316 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.43417 0.53974 HET Link to ClinVar
262412 252416 Benign not_specified 0.43452 0.53874 HET Link to ClinVar
96421 102315 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 . 0.36761 HET Link to ClinVar
262411 252417 Benign not_specified . 0.53774 HET Link to ClinVar
262406 252422 Benign not_specified 0.7015 0.77436 HET Link to ClinVar
96410 102304 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.98719 0.95587 HOM Link to ClinVar
96399 102293 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.46976 0.35463 HET Link to ClinVar
262399 252426 Benign not_specified . 0.41194 HET Link to ClinVar
262396 252429 Benign not_specified 0.46495 0.35563 HET Link to ClinVar
96386 102280 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.46521 0.35583 HET Link to ClinVar
96374 102268 Benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.9883 0.95827 HOM Link to ClinVar
96407 102301 Benign not_specified 0.27663 0.32987 HET Link to ClinVar
96388 102282 Benign/Likely_benign Autosomal_recessive_polycystic_kidney_disease
not_specified
not_provided		 0.28441 0.35443 HET Link to ClinVar
128968 134415 Benign/Likely_benign Juvenile_myoclonic_epilepsy
not_specified		 . 0.06889 HET Link to ClinVar
2063 17102 Benign Myoclonic_epilepsy,_juvenile_1
Juvenile_myoclonic_epilepsy
not_specified		 0.06051 0.04433 HET Link to ClinVar
357489 300714 Benign Juvenile_myoclonic_epilepsy 0.89467 0.89996 HET Link to ClinVar
357498 308225 Likely_benign Juvenile_myoclonic_epilepsy 0.90195 0.93311 HET Link to ClinVar
357512 300722 Benign Juvenile_myoclonic_epilepsy 0.89449 0.89996 HET Link to ClinVar
357517 308241 Benign Juvenile_myoclonic_epilepsy . . HET Link to ClinVar
357523 303678 Likely_benign Juvenile_myoclonic_epilepsy 0.18641 0.12999 HET Link to ClinVar
357527 308245 Likely_benign Juvenile_myoclonic_epilepsy 0.65463 0.69908 HET Link to ClinVar
357529 300752 Likely_benign Juvenile_myoclonic_epilepsy 0.44915 0.27935 HET Link to ClinVar
218139 214787 not_provided not_provided 0.50352 0.59804 HET Link to ClinVar
439753 433587 Benign not_specified . 0.06909 HET Link to ClinVar
768101 699626 Benign not_provided . . HET Link to ClinVar
795681 787557 Benign not_provided . . HET Link to ClinVar
518378 508818 Benign Neuropathy,_hereditary_sensory_and_autonomic,_type_VI 0.40605 0.33526 HET Link to ClinVar
518379 508819 Benign Neuropathy,_hereditary_sensory_and_autonomic,_type_VI 0.35621 0.32828 HET Link to ClinVar
357539 308257 Benign Neuropathy,_hereditary_sensory_and_autonomic,_type_VI . . HET Link to ClinVar
357558 303702 Benign Neuropathy,_hereditary_sensory_and_autonomic,_type_VI 0.38866 0.40176 HET Link to ClinVar
357579 300790 Benign Neuropathy,_hereditary_sensory_and_autonomic,_type_VI 0.36096 0.33646 HET Link to ClinVar
357616 308408 Conflicting_interpretations_of_pathogenicity Neuropathy,_hereditary_sensory_and_autonomic,_type_VI
not_provided		 0.0033 0.003 HET Link to ClinVar
93620 99524 Benign/Likely_benign Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive		 0.36324 0.34964 HET Link to ClinVar
196616 193777 Benign Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive		 . . HET Link to ClinVar
137256 140959 Benign/Likely_benign Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive		 0.28638 0.29133 HET Link to ClinVar
195937 193098 Conflicting_interpretations_of_pathogenicity Retinitis_pigmentosa
Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided		 0.00486 0.001 HET Link to ClinVar
93611 99515 Benign Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive		 0.74697 0.78155 HET Link to ClinVar
137272 140975 Conflicting_interpretations_of_pathogenicity Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive		 0.03587 0.01617 HET Link to ClinVar
93605 99509 Benign Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided		 0.61068 0.64637 HET Link to ClinVar
137268 140971 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.16152 0.10423 HET Link to ClinVar
137263 140966 Benign/Likely_benign Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive		 0.67463 0.65116 HET Link to ClinVar
137262 140965 Benign/Likely_benign Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive		 0.51649 0.50599 HOM Link to ClinVar
137261 140964 Benign/Likely_benign Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive		 . 0.17033 HET Link to ClinVar
137260 140963 Benign/Likely_benign Retinitis_pigmentosa_25
not_specified
not_provided		 . 0.00859 HET Link to ClinVar
357765 303862 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . 0.64597 HET Link to ClinVar
357791 308545 Benign Multiple_Epiphyseal_Dysplasia,_Dominant
Stickler_Syndrome,_Recessive		 . 0.39577 HET Link to ClinVar
258357 252455 Benign not_specified 0.38134 0.21865 HET Link to ClinVar
677932 662196 Benign not_provided . . HET Link to ClinVar
258353 252459 Benign Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified
Stickler_Syndrome,_Recessive		 0.37526 0.32668 HET Link to ClinVar
258351 252460 Benign not_specified
not_provided		 . 0.17332 HET Link to ClinVar
258352 252461 Benign not_specified 0.44845 0.40336 HET Link to ClinVar
677930 662260 Benign not_provided . . HET Link to ClinVar
258350 252462 Benign not_specified . 0.36921 HET Link to ClinVar
258344 252467 Benign not_specified . 0.8752 HET Link to ClinVar
683421 661848 Benign not_provided . . HET Link to ClinVar
683417 662291 Benign not_provided . . HET Link to ClinVar
677940 661850 Benign not_provided . . HET Link to ClinVar
677939 661854 Benign not_provided . . HET Link to ClinVar
678734 662262 Benign not_provided . . HET Link to ClinVar
677938 662200 Benign not_provided . . HET Link to ClinVar
677937 662306 Benign not_provided . . HET Link to ClinVar
677936 661862 Benign not_provided . . HET Link to ClinVar
677935 661876 Benign not_provided . . HET Link to ClinVar
260500 252483 Benign not_specified
Cone-Rod_Dystrophy,_Dominant
not_provided		 . 0.7518 HOM Link to ClinVar
95655 101552 Benign not_specified
Cone-Rod_Dystrophy,_Dominant
not_provided		 0.99227 0.97464 HOM Link to ClinVar
677182 662301 Benign not_provided . . HET Link to ClinVar
677183 662302 Benign not_provided . . HET Link to ClinVar
260498 252489 Benign not_specified
Cone-Rod_Dystrophy,_Dominant
not_provided		 0.21242 0.15875 HET Link to ClinVar
357862 308639 Benign Cone-Rod_Dystrophy,_Dominant . . HET Link to ClinVar
357878 303974 Benign Cone-Rod_Dystrophy,_Dominant . 0.44329 HOM Link to ClinVar
357879 303981 Likely_benign Cone-Rod_Dystrophy,_Dominant . 0.11202 HET Link to ClinVar
357882 303985 Benign Cone-Rod_Dystrophy,_Dominant . . HET Link to ClinVar
357890 301012 Likely_benign Cone-Rod_Dystrophy,_Dominant . 0.12001 HET Link to ClinVar
138273 141976 Benign not_specified 1 1 HOM Link to ClinVar
138274 141977 Benign not_specified
not_provided		 0.18713 0.20807 HET Link to ClinVar
678137 662304 Benign not_provided . . HOM Link to ClinVar
671625 662307 Benign not_provided . . HET Link to ClinVar
682640 662350 Benign not_provided . . HOM Link to ClinVar
671626 662272 Benign not_provided . . HET Link to ClinVar
678514 662356 Benign not_provided . . HOM Link to ClinVar
357907 308706 Benign Salla_disease . 0.30092 HET Link to ClinVar
357917 308717 Benign Salla_disease . 0.17252 HET Link to ClinVar
357919 301029 Likely_benign Salla_disease . 0.06829 HET Link to ClinVar
672112 661914 Benign not_provided . . HET Link to ClinVar
672111 662283 Benign not_provided . . HET Link to ClinVar
672110 662325 Benign not_provided . . HET Link to ClinVar
672021 661917 Benign not_provided . . HOM Link to ClinVar
672109 662327 Benign not_provided . . HET Link to ClinVar
672093 662329 Benign not_provided . . HET Link to ClinVar
357925 301037 Benign Salla_disease
not_provided		 0.07939 0.0655 HET Link to ClinVar
558969 549614 Benign not_provided 0.07837 0.0655 HET Link to ClinVar
259341 252506 Benign not_specified 0.88335 0.88618 HOM Link to ClinVar
259338 252509 Benign not_specified
not_provided		 0.0073 0.00419 HET Link to ClinVar
45147 54314 Benign not_specified
not_provided		 0.25117 0.14776 HOM Link to ClinVar
45130 54297 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.28782 0.14697 HOM Link to ClinVar
358027 308845 Likely_benign Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.31889 HOM Link to ClinVar
358034 301090 Benign Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . . HOM Link to ClinVar
358049 304111 Benign Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.55052 HET Link to ClinVar
358056 301102 Benign Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.77716 HET Link to ClinVar
358085 308889 Likely_benign Leber_congenital_amaurosis . 0.5647 HET Link to ClinVar
167255 177374 Benign/Likely_benign Leber_congenital_amaurosis
Leber_congenital_amaurosis_1
not_specified		 0.31671 0.35523 HET Link to ClinVar
167258 177112 Benign Leber_congenital_amaurosis
Leber_congenital_amaurosis_1
not_specified		 0.83459 0.89058 HET Link to ClinVar
358109 308913 Benign Leber_congenital_amaurosis . 0.89038 HET Link to ClinVar
358150 301166 Likely_benign Stargardt_Disease,_Dominant . 0.08726 HET Link to ClinVar
683382 662388 Benign not_provided . . HOM Link to ClinVar
96573 102466 Benign not_specified 0.44378 0.38778 HOM Link to ClinVar
96572 102465 Benign Maple_syrup_urine_disease
not_specified		 . 0.51837 HOM Link to ClinVar
683389 662411 Benign not_provided . . HOM Link to ClinVar
96613 102506 Benign not_specified . 0.69629 HOM Link to ClinVar
683390 662414 Benign not_provided . . HOM Link to ClinVar
683392 662417 Benign not_provided . . HOM Link to ClinVar
683394 662386 Benign not_provided . . HOM Link to ClinVar
358174 304288 Benign Maple_syrup_urine_disease . 0.71506 HOM Link to ClinVar
358176 304289 Benign Maple_syrup_urine_disease . 0.71546 HOM Link to ClinVar
358177 304303 Benign Maple_syrup_urine_disease . 0.71586 HOM Link to ClinVar
358178 301182 Benign Maple_syrup_urine_disease . 0.58986 HOM Link to ClinVar
358179 309048 Benign Maple_syrup_urine_disease . 0.95847 HOM Link to ClinVar
358185 309049 Benign Maple_syrup_urine_disease . 0.71526 HOM Link to ClinVar
358188 301194 Benign Maple_syrup_urine_disease . 0.39976 HOM Link to ClinVar
358190 309050 Benign Maple_syrup_urine_disease . 0.71546 HOM Link to ClinVar
358191 309058 Benign Maple_syrup_urine_disease . 0.71546 HOM Link to ClinVar
358196 304336 Benign Maple_syrup_urine_disease . 0.71526 HOM Link to ClinVar
358198 301200 Benign Maple_syrup_urine_disease . 0.6887 HOM Link to ClinVar
358202 301205 Benign Maple_syrup_urine_disease . 0.71526 HOM Link to ClinVar
358204 301207 Benign Maple_syrup_urine_disease . 0.71526 HOM Link to ClinVar
358206 309086 Benign Maple_syrup_urine_disease . 0.71486 HOM Link to ClinVar
358208 309088 Benign Maple_syrup_urine_disease . 0.71526 HOM Link to ClinVar
358209 309090 Benign Maple_syrup_urine_disease . 0.71526 HOM Link to ClinVar
358210 304346 Benign Maple_syrup_urine_disease . 0.71526 HOM Link to ClinVar
358212 304347 Benign Maple_syrup_urine_disease . 0.71586 HOM Link to ClinVar
358213 304349 Benign Maple_syrup_urine_disease . 0.71566 HOM Link to ClinVar
681218 655752 Benign not_provided . . HET Link to ClinVar
672119 655753 Benign not_provided . . HET Link to ClinVar
802247 790663 Benign Multicystic_renal_dysplasia,_bilateral . . HET Link to ClinVar
95391 101290 Benign Congenital_disorder_of_glycosylation
not_specified		 . 0.64597 HET Link to ClinVar
4843 19882 risk_factor CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIf,_MODIFIER_OF . . HET Link to ClinVar
358221 304359 Benign Congenital_disorder_of_glycosylation
Pontoneocerebellar_hypoplasia		 . 0.63918 HET Link to ClinVar
358228 301220 Benign Congenital_disorder_of_glycosylation
Pontoneocerebellar_hypoplasia		 . 0.63858 HET Link to ClinVar
671612 662427 Benign not_provided . . HET Link to ClinVar
683650 662396 Benign not_provided . . HET Link to ClinVar
683649 662019 Benign not_provided . . HET Link to ClinVar
671595 662404 Benign not_provided . . HET Link to ClinVar
358264 304408 Benign Mitochondrial_complex_I_deficiency . 0.93411 HOM Link to ClinVar
358266 309128 Likely_benign Mitochondrial_complex_I_deficiency . 0.29133 HOM Link to ClinVar
129692 135138 Benign Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.89442 0.93391 HOM Link to ClinVar
358272 309036 Benign/Likely_benign Mitochondrial_complex_I_deficiency
not_specified
not_provided		 . . HOM Link to ClinVar
677882 662440 Benign not_provided . . HOM Link to ClinVar
681227 662041 Benign not_provided . . HOM Link to ClinVar
354670 305273 Benign Schaaf-yang_syndrome . 0.39876 HET Link to ClinVar
354672 305275 Likely_benign Schaaf-yang_syndrome . 0.01218 HET Link to ClinVar
418019 406785 Benign not_specified . . HOM Link to ClinVar
129169 134615 Likely_benign not_specified 0.2537 0.41514 HET Link to ClinVar
354761 305215 Likely_benign Coenzyme_Q10_deficiency,_primary . . HET Link to ClinVar
683453 661460 Benign not_provided . . HET Link to ClinVar
683452 661389 Benign not_provided . . HOM Link to ClinVar
674100 661498 Likely_benign not_provided . . HET Link to ClinVar
130361 135808 Benign not_specified 0.98878 0.97963 HOM Link to ClinVar
354812 298570 Benign Polycystic_liver_disease_1 . 0.92951 HOM Link to ClinVar
354813 305479 Benign Polycystic_liver_disease_1 . . HOM Link to ClinVar
354821 305322 Benign Polycystic_liver_disease_1 . . HOM Link to ClinVar
354825 298582 Benign Polycystic_liver_disease_1 . 0.92871 HOM Link to ClinVar
354826 305329 Benign Polycystic_liver_disease_1 . 0.92452 HOM Link to ClinVar
354842 300935 Benign Polycystic_liver_disease_1 . 0.86262 HOM Link to ClinVar
354859 305401 Benign Polycystic_liver_disease_1 . . . Link to ClinVar
354861 305408 Benign Polycystic_liver_disease_1 . 0.75579 HOM Link to ClinVar
354863 300960 Benign Polycystic_liver_disease_1 . . HOM Link to ClinVar
354865 305512 Benign Polycystic_liver_disease_1 . 0.96905 HOM Link to ClinVar
354868 305515 Benign Polycystic_liver_disease_1 . 0.86242 HOM Link to ClinVar
354871 305516 Benign Polycystic_liver_disease_1 . 0.86302 HOM Link to ClinVar
354888 305541 Benign Polycystic_liver_disease_1 . 0.86282 HOM Link to ClinVar
95474 101373 Benign Polycystic_liver_disease_1
not_specified		 0.85888 0.85503 HOM Link to ClinVar
354921 305591 Benign Polycystic_liver_disease_1 . 0.92572 HOM Link to ClinVar
354946 305473 Benign Osteopetrosis . 0.34405 HET Link to ClinVar
354954 301056 Benign Osteopetrosis . 0.34405 HET Link to ClinVar
354961 305520 Benign Osteopetrosis . 0.21845 HET Link to ClinVar
354969 301078 Benign Osteopetrosis . 0.21885 HET Link to ClinVar
354976 305637 Benign Osteopetrosis . 0.47644 HET Link to ClinVar
781755 710103 Benign not_provided . . HET Link to ClinVar
220332 221621 Benign/Likely_benign Charcot-Marie-Tooth_disease_type_4
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
not_provided		 0.00811 0.0016 HET Link to ClinVar
668145 661063 Benign not_provided . . HET Link to ClinVar
673440 661506 Benign not_provided . . HET Link to ClinVar
673441 661070 Benign not_provided . . HET Link to ClinVar
694980 683117 Uncertain_significance Charcot-Marie-Tooth_disease . . HET Link to ClinVar
260451 252050 Benign not_specified 0.3844 0.33806 HET Link to ClinVar
668146 661491 Benign not_provided . . HET Link to ClinVar
680179 661500 Benign not_provided . . HET Link to ClinVar
681668 661393 Benign not_provided . . HET Link to ClinVar
680181 661395 Benign not_provided . . HET Link to ClinVar
260447 252054 Benign Charcot-Marie-Tooth_disease,_type_4J
Amyotrophic_lateral_sclerosis_type_11
Charcot-Marie-Tooth_disease_type_4
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
not_provided		 . 0.35883 HET Link to ClinVar
670527 661436 Benign not_provided . . HET Link to ClinVar
680184 661442 Benign not_provided . . HET Link to ClinVar
670528 661078 Benign not_provided . . HET Link to ClinVar
260449 252056 Benign Charcot-Marie-Tooth_disease_type_4
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
not_provided		 0.42887 0.39577 HET Link to ClinVar
355052 298744 Benign Charcot-Marie-Tooth_disease_type_4
Amyotrophic_Lateral_Sclerosis,_Dominant		 . 0.44828 HET Link to ClinVar
403565 389644 Benign not_specified 0.85361 0.93171 HET Link to ClinVar
355054 298749 Benign Progressive_pseudorheumatoid_dysplasia . 0.23862 HET Link to ClinVar
355060 301225 Benign Progressive_pseudorheumatoid_dysplasia 0.26062 0.29892 HET Link to ClinVar
672745 661518 Benign not_provided . . HET Link to ClinVar
44405 53572 Benign Dilated_cardiomyopathy_1JJ
not_specified		 0.23929 0.24002 HET Link to ClinVar
44406 53573 Benign Dilated_cardiomyopathy_1JJ
not_specified		 . 0.24002 HET Link to ClinVar
672744 661450 Benign not_provided . . HET Link to ClinVar
672743 661503 Benign not_provided . . HET Link to ClinVar
672742 661082 Benign not_provided . . HET Link to ClinVar
673048 661084 Benign not_provided . . HET Link to ClinVar
44401 53568 Benign Dilated_cardiomyopathy_1JJ
not_specified		 0.26713 0.28175 HET Link to ClinVar
678524 661530 Benign not_provided . . HET Link to ClinVar
678505 661514 Benign not_provided . . HET Link to ClinVar
671121 661521 Benign not_provided . . HOM Link to ClinVar
671120 661527 Benign not_provided . . HOM Link to ClinVar
671119 661477 Benign not_provided . . HET Link to ClinVar
683590 661535 Benign not_provided . . HET Link to ClinVar
672708 661483 Benign not_provided . . HOM Link to ClinVar
672707 661550 Benign not_provided . . HOM Link to ClinVar
44377 53544 Benign Dilated_cardiomyopathy_1JJ
not_specified		 . 0.21046 HET Link to ClinVar
44376 53543 Benign Dilated_cardiomyopathy_1JJ
not_specified		 0.76915 0.83986 HOM Link to ClinVar
44375 53542 Benign Dilated_cardiomyopathy_1JJ
not_specified		 0.76937 0.84046 HOM Link to ClinVar
671118 661488 Benign not_provided . . HET Link to ClinVar
673047 661543 Benign not_provided . . HET Link to ClinVar
677986 661107 Benign not_provided . . HOM Link to ClinVar
673044 661561 Benign not_provided . . HET Link to ClinVar
671117 661590 Benign not_provided . . HET Link to ClinVar
673042 661591 Benign not_provided . . HET Link to ClinVar
671116 661501 Benign not_provided . . HET Link to ClinVar
678500 661128 Benign not_provided . . HET Link to ClinVar
44348 53515 Benign Dilated_cardiomyopathy_1JJ
not_specified		 0.66492 0.75839 HET Link to ClinVar
678499 661618 Benign not_provided . . HET Link to ClinVar
673010 661620 Benign not_provided . . HET Link to ClinVar
671115 661508 Benign not_provided . . HET Link to ClinVar
177976 178204 Benign not_specified
not_provided		 . . HOM Link to ClinVar
672702 661646 Benign not_provided . . HET Link to ClinVar
355088 301242 Likely_benign Metaphyseal_chondrodysplasia 0.02642 0.00399 HET Link to ClinVar
256259 252058 Benign Metaphyseal_chondrodysplasia
Metaphyseal_chondrodysplasia,_Schmid_type
not_specified		 . . HOM Link to ClinVar
256260 252060 Benign Metaphyseal_chondrodysplasia
Metaphyseal_chondrodysplasia,_Schmid_type
not_specified		 . 0.21366 HET Link to ClinVar
162165 171878 not_provided not_provided . 0.44549 HOM Link to ClinVar
256262 252061 Benign Metaphyseal_chondrodysplasia
Metaphyseal_chondrodysplasia,_Schmid_type
not_specified		 0.38046 0.44549 HOM Link to ClinVar
683469 661630 Benign not_provided . . HOM Link to ClinVar
384684 368304 Benign not_specified 0.22432 0.13658 HET Link to ClinVar
678582 661182 Benign not_provided . . HET Link to ClinVar
678111 661187 Benign not_provided . . HOM Link to ClinVar
165061 174342 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.64698 0.71006 HET Link to ClinVar
165062 174480 Benign/Likely_benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.09006 0.13538 HET Link to ClinVar
257050 252066 Benign not_specified 0.06448 0.06789 HET Link to ClinVar
355130 305786 Likely_benign Primary_ciliary_dyskinesia . 0.09046 HET Link to ClinVar
769691 699269 Benign not_provided . . HOM Link to ClinVar
403328 389721 Benign not_specified . 0.01897 HET Link to ClinVar
355141 298827 Likely_benign Hypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.39437 HET Link to ClinVar
355176 301331 Benign Syndactyly
Oculodentodigital_dysplasia
Hypoplastic_left_heart_syndrome_1		 . . HET Link to ClinVar
355191 298869 Benign Catecholaminergic_polymorphic_ventricular_tachycardia . 0.48403 HET Link to ClinVar
355206 301350 Benign Catecholaminergic_polymorphic_ventricular_tachycardia . 0.3758 HET Link to ClinVar
355209 301354 Uncertain_significance Catecholaminergic_polymorphic_ventricular_tachycardia 0.00044 . HET Link to ClinVar
259915 252068 Benign not_specified 0.42535 0.376 HET Link to ClinVar
674826 661633 Benign not_provided . . HET Link to ClinVar
674825 661570 Benign not_provided . . HET Link to ClinVar
227114 229391 Benign/Likely_benign Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
not_provided		 . . HET Link to ClinVar
680815 661681 Benign not_provided . . HET Link to ClinVar
674818 661638 Benign not_provided . . HET Link to ClinVar
227111 229396 Benign Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified		 0.2749 0.29373 HET Link to ClinVar
674816 661686 Benign not_provided . . HOM Link to ClinVar
227110 229399 Benign Catecholaminergic_polymorphic_ventricular_tachycardia
Ventricular_tachycardia,_catecholaminergic_polymorphic,_5,_with_or_without_muscle_weakness
not_specified
Cardiovascular_phenotype		 . 0.9393 HOM Link to ClinVar
674814 661647 Benign not_provided . . HOM Link to ClinVar
680832 661218 Benign not_provided . . HET Link to ClinVar
227106 229404 Benign/Likely_benign Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 0.34231 0.27217 HET Link to ClinVar
259914 252069 Benign not_specified 0.47353 0.47624 HET Link to ClinVar
678038 661596 Benign not_provided . . HOM Link to ClinVar
674793 661599 Benign not_provided . . HOM Link to ClinVar
678159 661226 Benign not_provided . . HOM Link to ClinVar
680813 661232 Benign not_provided . . HOM Link to ClinVar
227123 229411 Benign Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype		 0.82588 0.84325 HOM Link to ClinVar
680811 661236 Benign not_provided . . HOM Link to ClinVar
674823 661691 Benign not_provided . . HET Link to ClinVar
680812 661655 Benign not_provided . . HET Link to ClinVar
674821 661657 Benign not_provided . . HET Link to ClinVar
674817 661248 Benign not_provided . . HET Link to ClinVar
674815 661693 Benign not_provided . . HET Link to ClinVar
674813 661697 Benign not_provided . . HET Link to ClinVar
674796 661699 Benign not_provided . . HET Link to ClinVar
674869 661701 Benign not_provided . . HET Link to ClinVar
674867 661640 Benign not_provided . . HET Link to ClinVar
355225 298899 Uncertain_significance Catecholaminergic_polymorphic_ventricular_tachycardia . . HET Link to ClinVar
674791 661711 Benign not_provided . . HET Link to ClinVar
674790 661671 Benign not_provided . . HET Link to ClinVar
674844 661716 Benign not_provided . . HET Link to ClinVar
684020 661722 Benign not_provided . . HOM Link to ClinVar
92955 98862 Benign Merosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related		 0.95784 0.9367 HOM Link to ClinVar
256079 252071 Benign not_specified
not_provided		 0.21458 0.2474 HET Link to ClinVar
682904 661723 Benign not_provided . . HET Link to ClinVar
682907 661658 Benign not_provided . . HET Link to ClinVar
668910 661266 Benign not_provided . . HET Link to ClinVar
682915 661659 Benign not_provided . . HET Link to ClinVar
682917 661682 Benign not_provided . . HET Link to ClinVar
92943 98850 Benign Merosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related		 0.18276 0.27097 HET Link to ClinVar
682903 661268 Benign not_provided . . HET Link to ClinVar
671435 661685 Benign not_provided . . HET Link to ClinVar
682906 661684 Benign not_provided . . HET Link to ClinVar
682909 661692 Benign not_provided . . HET Link to ClinVar
682911 661284 Benign not_provided . . HET Link to ClinVar
92949 98856 Benign Merosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related		 0.2683 0.3139 HET Link to ClinVar
256063 252086 Benign not_specified
not_provided		 0.13458 0.18251 HET Link to ClinVar
682913 661729 Benign not_provided . . HET Link to ClinVar
682914 661698 Benign not_provided . . HOM Link to ClinVar
256066 252088 Benign not_specified . . HET Link to ClinVar
92951 98858 Benign Merosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related		 0.219 0.35523 HOM Link to ClinVar
682921 661702 Benign not_provided . . HET Link to ClinVar
92952 98859 Benign/Likely_benign Merosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related		 0.06873 0.12001 HET Link to ClinVar
671452 661700 Benign not_provided . . HET Link to ClinVar
682924 661703 Benign not_provided . . HET Link to ClinVar
196660 193821 Conflicting_interpretations_of_pathogenicity Merosin_deficient_congenital_muscular_dystrophy
MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_AUTOSOMAL_RECESSIVE_23
not_specified
not_provided		 0.00334 0.0028 HET Link to ClinVar
682920 661740 Benign not_provided . . HET Link to ClinVar
218657 215327 Benign/Likely_benign History_of_neurodevelopmental_disorder
not_specified		 . . HET Link to ClinVar
355347 299023 Benign Arterial_calcification,_generalized,_of_infancy,_1
not_specified
Hypophosphatemic_Rickets,_Recessive		 . . HET Link to ClinVar
13590 28629 Benign Obesity
Arterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive		 . 0.55471 HET Link to ClinVar
355377 299056 Benign Arterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive		 . 0.41274 HET Link to ClinVar
355381 301463 Benign Arterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive		 . 0.55371 HET Link to ClinVar
355398 301470 Benign Arterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive		 . 0.64756 HET Link to ClinVar
355424 299088 Benign Arterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive		 . 0.56749 HET Link to ClinVar
44773 53940 Benign/Likely_benign not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant		 0.34169 0.40955 HET Link to ClinVar
676338 661797 Benign not_provided . . HET Link to ClinVar
355448 299116 Likely_benign Dilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant		 0.43432 0.47105 HET Link to ClinVar
355453 299121 Likely_benign Dilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant		 . 1 HOM Link to ClinVar
355455 299127 Likely_benign Dilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.83467 HOM Link to ClinVar
355467 305907 Likely_benign Dilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.01198 HET Link to ClinVar
355477 306198 Likely_benign Dilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.02855 HET Link to ClinVar
132871 136620 Likely_pathogenic Fetal_hemoglobin_quantitative_trait_locus_2 . 0.17532 HET Link to ClinVar
95757 101654 Benign Joubert_syndrome
Joubert_syndrome_3
not_specified		 0.62864 0.59485 HOM Link to ClinVar
128326 133775 Benign/Likely_benign Joubert_syndrome
not_specified
not_provided		 0.02652 0.01138 HET Link to ClinVar
260839 252135 Benign Joubert_syndrome
Joubert_syndrome_3
not_specified		 0.91061 0.82288 HOM Link to ClinVar
667961 661803 Benign not_provided . . HOM Link to ClinVar
166664 177234 Benign/Likely_benign not_specified
not_provided		 0.00398 0.002 HET Link to ClinVar
673960 661813 Benign not_provided . . HOM Link to ClinVar
402420 389734 Benign not_specified 0.49764 . HET Link to ClinVar
802274 790592 Benign Rhizomelic_chondrodysplasia_punctata_type_1 . . HOM Link to ClinVar
402973 389720 Benign not_specified . . . Link to ClinVar
133990 137729 not_provided not_specified 0.28764 0.27616 HET Link to ClinVar
802278 790596 Benign Lethal_congenital_contracture_syndrome_9 . . HOM Link to ClinVar
802279 790597 Benign Lethal_congenital_contracture_syndrome_9 . . HOM Link to ClinVar
259105 252147 Benign not_specified . . HET Link to ClinVar
167458 177938 Benign not_specified
not_provided		 0.27257 0.32368 HET Link to ClinVar
259108 252150 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.44284 0.57089 HET Link to ClinVar
355585 306045 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.12899 HET Link to ClinVar
355659 306156 Benign Familial_hemophagocytic_lymphohistiocytosis . . HOM Link to ClinVar
670732 661845 Benign not_provided . . HOM Link to ClinVar
95306 101205 Benign Seizures
Lafora_disease
not_specified
not_provided		 . 0.65336 HET Link to ClinVar
670731 655716 Benign not_provided . . HET Link to ClinVar
670730 655717 Benign not_provided . . HOM Link to ClinVar
668132 661806 Benign not_provided . . HET Link to ClinVar
2062 17101 risk_factor Diabetes_mellitus,_insulin-dependent,_5 0.55508 0.64597 HET Link to ClinVar
355674 306195 Conflicting_interpretations_of_pathogenicity Congenital_hypothyroidism
not_provided		 0.00321 0.00938 HET Link to ClinVar
257584 252155 Benign Iodotyrosine_deiodination_defect
not_specified		 0.86147 0.87201 HOM Link to ClinVar
355689 306479 Likely_benign Congenital_hypothyroidism . 0.33287 HET Link to ClinVar
355707 306245 Benign Congenital_hypothyroidism . 0.8768 HOM Link to ClinVar
355710 299312 Benign Congenital_hypothyroidism . 0.80072 HOM Link to ClinVar
355714 299319 Benign Congenital_hypothyroidism . 0.63279 HOM Link to ClinVar
355715 306246 Uncertain_significance Congenital_hypothyroidism . 0.01098 HET Link to ClinVar
355731 306512 Likely_benign Congenital_hypothyroidism . 0.29433 HOM Link to ClinVar
355734 306278 Likely_benign Congenital_hypothyroidism . . HOM Link to ClinVar
355738 306280 Uncertain_significance Congenital_hypothyroidism . 0.02057 HET Link to ClinVar
355740 306538 Likely_benign Congenital_hypothyroidism . 0.29213 HOM Link to ClinVar
355742 306289 Uncertain_significance Congenital_hypothyroidism . 0.02057 HET Link to ClinVar
355755 306542 Likely_benign Congenital_hypothyroidism . 0.09066 HOM Link to ClinVar
355758 306545 Benign Congenital_hypothyroidism . 0.79772 HOM Link to ClinVar
355759 299355 Likely_benign Congenital_hypothyroidism . 0.09125 HOM Link to ClinVar
355760 299359 Likely_benign Congenital_hypothyroidism . 0.29173 HOM Link to ClinVar
355761 299361 Likely_benign Congenital_hypothyroidism . 0.29173 HOM Link to ClinVar
355764 301822 Likely_benign Congenital_hypothyroidism . 0.29173 HOM Link to ClinVar
355766 301834 Benign Congenital_hypothyroidism . . HOM Link to ClinVar
355767 299366 Likely_benign Congenital_hypothyroidism . 0.3772 HOM Link to ClinVar
355770 306570 Uncertain_significance Congenital_hypothyroidism . 0.02157 HET Link to ClinVar
355772 299376 Likely_benign Congenital_hypothyroidism . 0.11122 HOM Link to ClinVar
355780 301838 Likely_benign Congenital_hypothyroidism . . HET Link to ClinVar
355793 306600 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy		 . 0.19589 HET Link to ClinVar
355794 306312 Uncertain_significance Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy		 . . HET Link to ClinVar
355803 299385 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy		 . 0.19589 HET Link to ClinVar
130433 135879 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified		 0.05133 0.02576 HET Link to ClinVar
262194 252156 Benign not_specified
not_provided		 . . HET Link to ClinVar
262193 252157 Benign not_specified
not_provided		 0.40228 0.44449 HET Link to ClinVar
194305 191468 Benign/Likely_benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.0006 . HET Link to ClinVar
670212 661868 Benign not_provided . . HOM Link to ClinVar
670211 661430 Benign not_provided . . HET Link to ClinVar
670210 661874 Benign not_provided . . HET Link to ClinVar
670209 661827 Benign not_provided . . HOM Link to ClinVar
670206 661898 Benign not_provided . . HET Link to ClinVar
670205 661891 Benign not_provided . . HET Link to ClinVar
683973 661895 Benign not_provided . . HOM Link to ClinVar
130419 135865 Benign/Likely_benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.99228 0.99561 HOM Link to ClinVar
670201 661922 Benign not_provided . . HET Link to ClinVar
670200 661927 Benign not_provided . . HET Link to ClinVar
670199 661468 Benign not_provided . . HET Link to ClinVar
670198 661833 Benign not_provided . . HOM Link to ClinVar
262178 252170 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified		 0.23745 0.20887 HET Link to ClinVar
683971 661469 Benign not_provided . . HET Link to ClinVar
262177 252171 Benign/Likely_benign not_specified
not_provided		 . . HET Link to ClinVar
670196 661841 Benign not_provided . . HOM Link to ClinVar
670195 661843 Benign not_provided . . HET Link to ClinVar
670192 661478 Benign not_provided . . HOM Link to ClinVar
670191 661930 Benign not_provided . . HOM Link to ClinVar
683953 661847 Benign not_provided . . HOM Link to ClinVar
262176 252172 Benign not_specified 0.6578 0.68071 HOM Link to ClinVar
670190 661920 Benign not_provided . . HOM Link to ClinVar
670188 661485 Benign not_provided . . HOM Link to ClinVar
672754 661925 Benign not_provided . . HET Link to ClinVar
683965 661950 Benign not_provided . . HET Link to ClinVar
683962 661938 Benign not_provided . . HET Link to ClinVar
672753 661941 Benign not_provided . . HET Link to ClinVar
670187 661860 Benign not_provided . . HOM Link to ClinVar
262172 252176 Benign not_specified
not_provided		 0.50011 0.45747 HOM Link to ClinVar
670185 661954 Benign not_provided . . HOM Link to ClinVar
670184 661489 Benign not_provided . . HET Link to ClinVar
670183 661965 Benign not_provided . . HET Link to ClinVar
683950 661969 Benign not_provided . . HET Link to ClinVar
683952 661499 Benign not_provided . . HET Link to ClinVar
130408 135855 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.77974 0.8147 HOM Link to ClinVar
130404 135851 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.77597 0.80332 HOM Link to ClinVar
262160 252183 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified		 0.46079 0.41314 HET Link to ClinVar
130399 135846 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.75468 0.79313 HOM Link to ClinVar
262158 252186 Benign not_specified
not_provided		 0.75842 0.79014 HOM Link to ClinVar
670177 661865 Benign not_provided . . HET Link to ClinVar
670173 661510 Benign not_provided . . HET Link to ClinVar
130398 135845 Benign/Likely_benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.1142 0.07328 HET Link to ClinVar
683949 661984 Benign not_provided . . HET Link to ClinVar
130397 135844 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.57615 0.54553 HOM Link to ClinVar
683947 661988 Benign not_provided . . HOM Link to ClinVar
683945 661875 Benign not_provided . . HOM Link to ClinVar
683943 661890 Benign not_provided . . HOM Link to ClinVar
263075 252188 Benign Spinocerebellar_ataxia,_autosomal_recessive_8
not_specified
not_provided		 0.58462 0.58746 HOM Link to ClinVar
670171 661897 Benign not_provided . . HOM Link to ClinVar
355885 306415 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified		 . . HOM Link to ClinVar
670170 661991 Benign not_provided . . HOM Link to ClinVar
670169 661953 Benign not_provided . . HOM Link to ClinVar
670168 661522 Benign not_provided . . HOM Link to ClinVar
670167 661955 Benign not_provided . . HOM Link to ClinVar
262154 252189 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified		 0.579 0.5659 HOM Link to ClinVar
262153 252190 Benign not_specified
not_provided		 . 0.56749 HOM Link to ClinVar
683939 661901 Benign not_provided . . HOM Link to ClinVar
683938 661904 Benign not_provided . . HOM Link to ClinVar
670165 661957 Benign not_provided . . HOM Link to ClinVar
683935 661995 Benign not_provided . . HOM Link to ClinVar
130393 135840 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.57994 0.56829 HOM Link to ClinVar
670162 661528 Benign not_provided . . HOM Link to ClinVar
670161 661916 Benign not_provided . . HOM Link to ClinVar
670160 661919 Benign not_provided . . HOM Link to ClinVar
130388 135835 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.65412 0.65915 HOM Link to ClinVar
262206 252193 Benign not_specified
not_provided		 0.87377 0.86362 HOM Link to ClinVar
262204 252195 Benign not_specified
not_provided		 0.4818 0.41094 HOM Link to ClinVar
130453 135899 Benign Cerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 . 0.46825 HOM Link to ClinVar
683934 661979 Benign not_provided . . HET Link to ClinVar
683928 661929 Benign not_provided . . HET Link to ClinVar
670153 661603 Benign not_provided . . HOM Link to ClinVar
262164 252207 Benign not_specified
not_provided		 0.76573 0.85523 HET Link to ClinVar
670151 662098 Benign not_provided . . HET Link to ClinVar
683894 662107 Benign not_provided . . HOM Link to ClinVar
670150 661628 Benign not_provided . . HOM Link to ClinVar
774186 699401 Benign not_provided . . HET Link to ClinVar
9538 24577 drug_response Drugs_used_in_opioid_dependence_response_-_Dosage,_Efficacy,_Metabolism/PK
alfentanil_response_-_Dosage,_Efficacy,_Metabolism/PK
buprenorphine_response_-_Dosage,_Efficacy,_Metabolism/PK
fentanyl_response_-_Dosage,_Efficacy,_Metabolism/PK
heroin_response_-_Dosage,_Efficacy,_Metabolism/PK
morphine_response_-_Dosage,_Efficacy,_Metabolism/PK
opioids_response_-_Dosage,_Efficacy,_Metabolism/PK
tramadol_response_-_Dosage,_Efficacy,_Metabolism/PK
Opioid_dependence_1
naloxone_response_-_Efficacy
ethanol_response_-_Toxicity/ADR		 0.1856 0.22344 HET Link to ClinVar
671615 661629 Benign not_provided . . HET Link to ClinVar
680781 662009 Benign not_provided . . HET Link to ClinVar
680778 662011 Benign not_provided . . HET Link to ClinVar
387771 370286 Likely_benign not_specified 2e-05 . HET Link to ClinVar
671702 661635 Benign not_provided . . HET Link to ClinVar
680779 662130 Benign not_provided . . HET Link to ClinVar
139094 142797 Benign not_specified 0.47085 0.40056 HET Link to ClinVar
671740 661642 Benign not_provided . . HET Link to ClinVar
139093 142796 Benign not_specified
not_provided		 0.71735 0.71386 HOM Link to ClinVar
671614 662145 Benign not_provided . . HOM Link to ClinVar
676193 661650 Benign not_provided . . HET Link to ClinVar
14751 29790 drug_response SUPEROXIDE_DISMUTASE_2_POLYMORPHISM
Microvascular_complications_of_diabetes_6
cyclophosphamide_response_-_Efficacy		 0.50239 0.41074 HET Link to ClinVar
403448 389722 Benign not_specified . . HET Link to ClinVar
692202 679944 Benign Otitis_media,_susceptibility_to . . HET Link to ClinVar
355998 302100 Likely_benign Parkinson_Disease,_Juvenile . 0.05771 HET Link to ClinVar
356006 299579 Likely_benign Parkinson_Disease,_Juvenile . 0.09844 HET Link to ClinVar
259433 252218 Benign not_specified 0.93292 0.95048 HET Link to ClinVar
8181 23220 risk_factor Neural_tube_defects,_susceptibility_to . 0.79732 HET Link to ClinVar
669503 662016 Benign not_provided . . HET Link to ClinVar
682625 662113 Benign not_provided . . HOM Link to ClinVar
682624 662127 Benign not_provided . . HOM Link to ClinVar
356027 302139 Benign/Likely_benign Leukoencephalopathy,_cystic,_without_megalencephaly . 0.07548 HET Link to ClinVar
356032 302143 Benign Leukoencephalopathy,_cystic,_without_megalencephaly 0.17309 0.18451 HET Link to ClinVar
356038 299616 Likely_benign Leukoencephalopathy,_cystic,_without_megalencephaly 0.04012 0.02316 HET Link to ClinVar
12713 27752 risk_factor Lumbar_disc_herniation,_susceptibility_to 0.36843 0.35563 HOM Link to ClinVar
768123 699457 Benign not_provided . . HOM Link to ClinVar
380786 368809 Benign not_specified 0.1503 0.20707 HET Link to ClinVar
668134 662154 Benign not_provided . . HET Link to ClinVar
130561 136007 Likely_benign not_specified 0.53191 0.61462 HOM Link to ClinVar
193730 190893 Benign not_specified 0.47353 0.53115 HET Link to ClinVar
193731 190894 Benign not_specified . 0.52536 HET Link to ClinVar
260939 252915 Benign not_specified 0.8385 0.75899 HOM Link to ClinVar
260922 252920 Benign not_specified 0.83334 0.82668 HOM Link to ClinVar
260930 252936 Benign not_specified 0.43043 0.39137 HOM Link to ClinVar
260932 252938 Benign not_specified 0.62109 0.66873 HOM Link to ClinVar
792067 710923 Benign not_provided . . HET Link to ClinVar
591286 582279 Uncertain_significance not_provided . . HOM Link to ClinVar
257271 252779 Benign not_specified 0.04039 0.01997 HET Link to ClinVar
257272 252780 Benign not_specified 0.06713 0.03514 HET Link to ClinVar
585490 576963 Benign not_provided 0.38948 0.46146 HET Link to ClinVar
446896 441075 Benign not_specified
not_provided		 . . HET Link to ClinVar
585492 576970 Benign not_provided 0.17849 0.09625 HET Link to ClinVar
402477 389742 Benign not_specified 0.51631 0.59645 HET Link to ClinVar
402479 389781 Benign not_specified 0.67951 0.50539 HOM Link to ClinVar
402480 389794 Benign not_specified 0.18791 0.10204 HET Link to ClinVar
402481 389822 Benign not_specified . 0.09066 HET Link to ClinVar
742980 750665 Benign not_provided . . HET Link to ClinVar
778294 777862 Benign not_provided . . HET Link to ClinVar
135065 138804 Benign Hereditary_nonpolyposis_colorectal_cancer_type_4
not_specified
not_provided		 0.85139 0.88319 HOM Link to ClinVar
41703 50142 Benign Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_4
not_specified
not_provided		 . 0.01098 HET Link to ClinVar
595920 586981 Benign not_specified . 0.14916 HET Link to ClinVar
91371 96846 Benign Lynch_syndrome . 0.15176 HET Link to ClinVar
36693 45354 Benign Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_4
not_specified
not_provided		 . 0.83127 HOM Link to ClinVar
91280 96755 Benign Lynch_syndrome . 0.15615 HET Link to ClinVar
91284 96759 Benign Lynch_syndrome 0.22118 0.23203 HET Link to ClinVar
682708 662146 Benign not_provided . . HET Link to ClinVar
682704 662578 Benign not_provided . . HOM Link to ClinVar
359485 302341 Benign Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related . 0.33367 HET Link to ClinVar
359491 302352 Uncertain_significance Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related . 0.01198 HET Link to ClinVar
359547 305641 Benign Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related 0.99474 0.99641 HOM Link to ClinVar
359556 310607 Benign Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related . 0.8121 HET Link to ClinVar
359566 302392 Benign Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related . 0.82987 HOM Link to ClinVar
359582 310459 Benign Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related . 0.79633 HOM Link to ClinVar
257460 252661 Benign/Likely_benign not_specified
Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related		 . 0.02336 HET Link to ClinVar
682001 662925 Benign not_provided . . HOM Link to ClinVar
682000 662835 Benign not_provided . . HOM Link to ClinVar
681997 662363 Benign not_provided . . HOM Link to ClinVar
681995 662840 Benign not_provided . . HOM Link to ClinVar
683645 662364 Benign not_provided . . HOM Link to ClinVar
681994 662850 Benign not_provided . . HET Link to ClinVar
681979 662379 Benign not_provided . . HOM Link to ClinVar
403464 390597 Benign not_specified . . HOM Link to ClinVar
402927 389811 Benign not_specified 0.31174 0.32987 HET Link to ClinVar
402925 389817 Benign not_specified 0.76792 0.77356 HOM Link to ClinVar
178721 174188 Benign/Likely_benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.09156 0.0613 HET Link to ClinVar
93682 99585 Benign not_specified
not_provided		 . . HET Link to ClinVar
93693 99596 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.46831 0.54293 HET Link to ClinVar
163097 174192 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.99043 0.99062 HOM Link to ClinVar
93684 99587 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.43478 0.53035 HET Link to ClinVar
178725 174059 Benign/Likely_benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.35292 0.22045 HET Link to ClinVar
163100 174194 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.78867 0.76777 HOM Link to ClinVar
163102 174195 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.78468 0.75379 HOM Link to ClinVar
93687 99590 Benign Primary_ciliary_dyskinesia
not_specified		 0.48895 0.5619 HET Link to ClinVar
93688 99591 Benign not_specified . . HET Link to ClinVar
93690 99593 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.39588 0.42332 HET Link to ClinVar
93692 99595 Benign/Likely_benign Primary_ciliary_dyskinesia
not_specified		 0.21313 0.22684 HET Link to ClinVar
163110 174201 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 . 0.75539 HET Link to ClinVar
163112 174202 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.64086 0.53954 HET Link to ClinVar
163113 174068 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.5341 0.3728 HET Link to ClinVar
163121 174075 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.57047 0.45947 HET Link to ClinVar
163126 174212 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 0.72554 0.63439 HOM Link to ClinVar
178735 174079 Benign Primary_ciliary_dyskinesia
not_specified
not_provided		 . 0.6224 HOM Link to ClinVar
178739 174216 Benign/Likely_benign Primary_ciliary_dyskinesia
not_specified
not_provided		 . 0.19349 HOM Link to ClinVar
695364 683887 Likely_benign not_provided . . HET Link to ClinVar
359702 310581 Likely_benign Primary_ciliary_dyskinesia . 0.21546 HOM Link to ClinVar
359713 302509 Benign Hypomyelination_and_Congenital_Cataract . . HET Link to ClinVar
359719 305783 Benign Hypomyelination_and_Congenital_Cataract . 0.22504 HET Link to ClinVar
359721 310823 Benign Hypomyelination_and_Congenital_Cataract . 0.42752 HET Link to ClinVar
359725 302520 Benign Hypomyelination_and_Congenital_Cataract . 0.42772 HET Link to ClinVar
359730 310601 Benign Hypomyelination_and_Congenital_Cataract . 0.22065 HET Link to ClinVar
359743 305847 Benign Hypomyelination_and_Congenital_Cataract . 0.22504 HET Link to ClinVar
359745 302533 Benign Hypomyelination_and_Congenital_Cataract . 0.66713 HOM Link to ClinVar
359749 305881 Benign Hypomyelination_and_Congenital_Cataract . 0.67213 HOM Link to ClinVar
359758 302539 Uncertain_significance Hypomyelination_and_Congenital_Cataract . . HET Link to ClinVar
359760 302544 Benign Hypomyelination_and_Congenital_Cataract . 0.65295 HOM Link to ClinVar
359762 310888 Benign Hypomyelination_and_Congenital_Cataract . 0.20248 HET Link to ClinVar
706630 692215 Benign not_provided . . HET Link to ClinVar
21726 34578 Benign Hypomyelination_and_Congenital_Cataract
not_specified
not_provided		 0.37382 0.3748 HET Link to ClinVar
359798 310950 Benign/Likely_benign PERCHING_syndrome
Retinitis_Pigmentosa,_Dominant		 0.35375 0.42033 HET Link to ClinVar
802302 790717 Benign PERCHING_syndrome . . HOM Link to ClinVar
359825 305960 Likely_benign Nonsyndromic_Hearing_Loss,_Mixed . 0.12001 HET Link to ClinVar
44840 54007 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Mixed		 0.19612 0.20188 HET Link to ClinVar
227286 229594 Likely_benign not_specified 0.00017 . HET Link to ClinVar
44844 54011 Benign not_specified
Nonsyndromic_Hearing_Loss,_Mixed		 0.57116 0.73762 HOM Link to ClinVar
359877 310733 Likely_benign Thrombocytopenia . 0.77816 HET Link to ClinVar
359878 306005 Likely_benign Thrombocytopenia . 0.47304 HET Link to ClinVar
359896 310753 Likely_benign Thrombocytopenia . 0.01577 HET Link to ClinVar
359907 310762 Likely_benign Thrombocytopenia . 0.4391 HET Link to ClinVar
359922 306027 Likely_benign Thrombocytopenia . 0.01577 HET Link to ClinVar
359923 306034 Likely_benign Thrombocytopenia . . HET Link to ClinVar
359953 302746 Likely_benign Athabaskan_brainstem_dysgenesis
Bosley-Salih-Alorainy_syndrome		 . 0.03974 HET Link to ClinVar
369585 353814 Benign Microtia,_hearing_impairment,_and_cleft_palate 0.766 0.78075 HOM Link to ClinVar
432169 425750 Conflicting_interpretations_of_pathogenicity not_provided . . HET Link to ClinVar
683987 662895 Benign not_provided . . HET Link to ClinVar
258532 252786 Benign Peripheral_axonal_neuropathy
Charcot-Marie-Tooth_disease,_type_2
Distal_spinal_muscular_atrophy
Charcot-Marie-Tooth_disease_type_2D
Distal_hereditary_motor_neuronopathy_type_5
not_specified
not_provided		 . 0.64936 HET Link to ClinVar
258537 252787 Benign not_specified 0.55177 0.39916 HET Link to ClinVar
681750 662916 Benign not_provided . . HET Link to ClinVar
683989 662934 Benign not_provided . . HET Link to ClinVar
681718 662938 Benign not_provided . . HET Link to ClinVar
258536 252795 Benign Peripheral_axonal_neuropathy
Charcot-Marie-Tooth_disease,_type_2
Distal_spinal_muscular_atrophy
Charcot-Marie-Tooth_disease_type_2D
Distal_hereditary_motor_neuronopathy_type_5
not_specified
not_provided		 0.55254 0.40415 HET Link to ClinVar
360021 311094 Uncertain_significance Peripheral_axonal_neuropathy
Charcot-Marie-Tooth_disease,_type_2
Distal_spinal_muscular_atrophy		 . . HET Link to ClinVar
226023 227761 drug_response selective_beta-2-adrenoreceptor_agonists_response_-_Efficacy
salbutamol_response_-_Efficacy		 . 0.41534 HET Link to ClinVar
440011 433763 Benign not_specified 0.68069 0.66693 HOM Link to ClinVar
167609 177381 Benign/Likely_benign Retinitis_pigmentosa_9
not_specified
Retinitis_Pigmentosa,_Dominant
not_provided		 0.20785 0.17552 HET Link to ClinVar
360045 311120 Benign Retinitis_Pigmentosa,_Dominant 0.99376 0.99661 HOM Link to ClinVar
360051 306176 Likely_benign Bardet-Biedl_syndrome . 0.15795 HET Link to ClinVar
360055 306180 Likely_benign Bardet-Biedl_syndrome . 0.04673 HET Link to ClinVar
360059 306185 Likely_benign Bardet-Biedl_syndrome . 0.14876 HET Link to ClinVar
263126 252797 Benign not_specified 0.18852 0.15755 HET Link to ClinVar
802303 790719 Benign Bardet-Biedl_syndrome_9 . . HOM Link to ClinVar
263117 252807 Benign/Likely_benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.20415 0.17133 HET Link to ClinVar
360112 302890 Benign Diaphanospondylodysostosis . 0.1893 HET Link to ClinVar
360118 306226 Benign Diaphanospondylodysostosis . 0.91014 HOM Link to ClinVar
360138 311236 Benign Diaphanospondylodysostosis . 0.26657 HET Link to ClinVar
2192 17231 risk_factor Asthma-related_traits,_susceptibility_to,_2 0.44655 0.46745 HET Link to ClinVar
518385 508825 Benign Atrial_septal_defect_4
Cardiovascular_phenotype		 0.67668 0.69389 HET Link to ClinVar
260759 252825 Benign not_specified 0.88854 0.83686 HOM Link to ClinVar
260762 252827 Benign not_specified . 0.74062 HOM Link to ClinVar
164801 174226 Benign not_specified 0.73828 0.74341 HOM Link to ClinVar
164804 174093 Benign not_specified . 0.55332 HOM Link to ClinVar
260754 252837 Benign not_specified 0.52817 0.55332 HOM Link to ClinVar
221007 221701 Benign not_specified
not_provided		 . . HET Link to ClinVar
260756 252839 Benign not_specified 0.65957 0.61202 HOM Link to ClinVar
559088 549617 Benign not_provided . 0.20527 HET Link to ClinVar
559092 549621 Benign not_provided 0.35979 0.31609 HET Link to ClinVar
559093 549622 Benign not_provided . 0.34225 HET Link to ClinVar
559095 549624 Benign not_provided . . HOM Link to ClinVar
360161 311248 Benign Polydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome		 . 0.3113 HET Link to ClinVar
360162 302940 Benign Polydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome		 . 0.26617 HET Link to ClinVar
360209 306272 Benign Polydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome		 . 0.45168 HET Link to ClinVar
255433 252855 Benign Polydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
not_specified
not_provided		 0.4558 0.42153 HET Link to ClinVar
681351 662963 Benign not_provided . . HET Link to ClinVar
255420 252868 Benign Polydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
not_specified		 0.97346 0.96346 HOM Link to ClinVar
683174 662928 Benign not_provided . . HET Link to ClinVar
683173 662965 Benign not_provided . . HET Link to ClinVar
255446 252880 Benign Polydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
not_specified
not_provided		 0.56303 0.60363 HET Link to ClinVar
683170 662420 Benign not_provided . . HOM Link to ClinVar
360286 306342 Benign Maturity_onset_diabetes_mellitus_in_young
Permanent_neonatal_diabetes_mellitus
Hyperinsulinism,_Dominant
Transient_Neonatal_Diabetes,_Recessive		 . 0.41114 HET Link to ClinVar
129147 134593 Benign Maturity_onset_diabetes_mellitus_in_young
Permanent_neonatal_diabetes_mellitus
not_specified
Hyperinsulinism,_Dominant
Transient_Neonatal_Diabetes,_Recessive		 0.36806 0.41314 HET Link to ClinVar
673534 662425 Benign not_provided . . HET Link to ClinVar
676858 662432 Benign not_provided . . HET Link to ClinVar
683651 662969 Benign not_provided . . HOM Link to ClinVar
403258 389750 Benign not_specified 0.24775 0.2472 HET Link to ClinVar
261965 252887 Benign Cerebral_cavernous_malformations_2
not_specified		 0.06287 0.03295 HET Link to ClinVar
712069 730500 Likely_benign not_provided . . HET Link to ClinVar
691984 679730 association Leukemia,_acute_lymphoblastic_2 . . HOM Link to ClinVar
694328 682220 association Leukemia,_acute_lymphoblastic_2 . . HOM Link to ClinVar
360432 311345 Benign Deficiency_of_aromatic-L-amino-acid_decarboxylase
not_specified		 0.2089 0.19828 HET Link to ClinVar
360449 303193 Likely_benign Lung_cancer . 0.22644 HET Link to ClinVar
360450 311361 Likely_benign Lung_cancer . 0.92971 HOM Link to ClinVar
134021 137760 Benign/Likely_benign Lung_cancer
not_specified		 0.28696 0.29213 HET Link to ClinVar
259677 252901 Benign/Likely_benign Lung_cancer
not_specified		 . 0.39038 HET Link to ClinVar
45271 54438 Benign/Likely_benign Lung_cancer
not_specified		 0.52278 0.43271 HET Link to ClinVar
360476 311489 Likely_benign Lung_cancer . . HET Link to ClinVar
360482 306517 Likely_benign Lung_cancer . 0.1869 HET Link to ClinVar
92588 98496 Benign Mucopolysaccharidosis_type_VII
not_specified
not_provided		 0.57963 0.58067 HOM Link to ClinVar
528232 522777 Benign not_provided . 0.5599 HOM Link to ClinVar
92583 98491 Benign not_specified
not_provided		 0.57221 0.5643 HOM Link to ClinVar
92591 98499 Benign not_specified
not_provided		 . . HOM Link to ClinVar
680525 662958 Benign not_provided . . HET Link to ClinVar
676097 662962 Benign not_provided . . HET Link to ClinVar
675236 662438 Benign not_provided . . HET Link to ClinVar
129370 134816 Benign/Likely_benign Seizures
Progressive_myoclonic_epilepsy
not_specified
not_provided		 0.10228 0.07827 HET Link to ClinVar
262690 252906 Benign not_specified
not_provided		 0.1288 0.1254 HET Link to ClinVar
360600 306626 Benign Progressive_myoclonic_epilepsy . 0.6238 HET Link to ClinVar
360601 303285 Benign Progressive_myoclonic_epilepsy . 0.6236 HET Link to ClinVar
360619 303299 Benign Progressive_myoclonic_epilepsy . 0.6234 HET Link to ClinVar
360627 311548 Likely_benign Progressive_myoclonic_epilepsy . 0.11282 HET Link to ClinVar
21544 34396 Benign Shwachman-Diamond_syndrome_1
not_specified		 0.03826 0.01817 HET Link to ClinVar
675424 663006 Benign not_provided . . HET Link to ClinVar
177898 176596 Benign Supravalvar_aortic_stenosis
Cutis_laxa,_autosomal_dominant
not_specified		 0.07119 0.04014 HET Link to ClinVar
683509 662978 Benign not_provided . . HET Link to ClinVar
683865 663031 Benign not_provided . . HET Link to ClinVar
360671 306729 Benign Supravalvar_aortic_stenosis
Cutis_laxa,_autosomal_dominant		 . 0.29014 HET Link to ClinVar
138789 142492 Benign Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis
not_specified		 0.90909 0.8119 HOM Link to ClinVar
138790 142493 Benign Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis
not_specified		 . 0.83526 HOM Link to ClinVar
256840 252929 Benign/Likely_benign Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis
not_specified		 0.3639 0.28614 HOM Link to ClinVar
360731 303417 Likely_benign Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis . 0.26877 HOM Link to ClinVar
667830 655803 Benign not_provided . . HOM Link to ClinVar
129565 135011 Benign not_specified
not_provided		 0.82481 0.78654 HET Link to ClinVar
129564 135010 Benign not_specified
not_provided		 0.8244 0.78634 HET Link to ClinVar
129557 135003 Benign not_specified
not_provided		 0.2942 0.32308 HET Link to ClinVar
360740 306836 Likely_benign Platelet_glycoprotein_IV_deficiency . 0.63339 HET Link to ClinVar
487077 480401 . . . 0.34685 HET Link to ClinVar
360748 311770 Likely_benign Platelet_glycoprotein_IV_deficiency . 0.39197 HET Link to ClinVar
360754 311791 Likely_benign Platelet_glycoprotein_IV_deficiency 0.96494 0.91833 HOM Link to ClinVar
43607 52776 Benign/Likely_benign Deafness,_autosomal_recessive_39
not_specified
Nonsyndromic_Hearing_Loss,_Mixed		 . 0.79832 HOM Link to ClinVar
674767 662981 Benign not_provided . . HET Link to ClinVar
674594 663052 Benign not_provided . . HET Link to ClinVar
674593 663057 Benign not_provided . . HET Link to ClinVar
674592 663065 Benign not_provided . . HET Link to ClinVar
678451 662984 Benign not_provided . . HOM Link to ClinVar
416574 396450 Benign not_specified
not_provided		 . . HET Link to ClinVar
668817 663067 Benign not_provided . . HET Link to ClinVar
516741 501832 Benign not_specified . . HET Link to ClinVar
683280 663072 Benign not_provided . . HET Link to ClinVar
683279 662988 Benign not_provided . . HOM Link to ClinVar
674634 663083 Benign not_provided . . HET Link to ClinVar
668894 663009 Benign not_provided . . HET Link to ClinVar
668892 663013 Benign not_provided . . HET Link to ClinVar
260254 252945 Benign not_specified
not_provided		 0.42234 0.33946 HOM Link to ClinVar
260257 252946 Benign not_specified 0.60634 0.55511 HOM Link to ClinVar
260255 252948 Benign not_specified
not_provided		 0.6078 0.55631 HOM Link to ClinVar
194754 191917 Benign not_specified 0.6132 0.61202 HET Link to ClinVar
256164 252949 Benign not_specified . 0.87999 HOM Link to ClinVar
256161 252952 Benign not_specified 0.89901 0.8736 HOM Link to ClinVar
256160 252953 Benign Progressive_familial_intrahepatic_cholestasis
Progressive_familial_intrahepatic_cholestasis_3
Cholestasis,_progressive_familial_intrahepatic_1
not_specified		 0.10565 0.17033 HET Link to ClinVar
198082 195243 Benign Progressive_familial_intrahepatic_cholestasis
Cholestasis,_progressive_familial_intrahepatic_1
not_specified		 0.47648 0.34784 HET Link to ClinVar
225939 227763 drug_response MDR1_POLYMORPHISM
fentanyl_response_-_Dosage,_Efficacy
methadone_response_-_Dosage,_Efficacy
morphine_response_-_Dosage,_Efficacy
opioids_response_-_Dosage,_Efficacy
oxycodone_response_-_Dosage,_Efficacy
tramadol_response_-_Dosage,_Efficacy
Non-small_cell_lung_cancer
digoxin_response_-_Other
ondansetron_response_-_Efficacy
methotrexate_response_-_Toxicity/ADR
nevirapine_response_-_Toxicity/ADR
not_provided		 0.50344 0.60483 HET Link to ClinVar
166622 176988 drug_response Inflammatory_bowel_disease_13
not_specified
ondansetron_response_-_Efficacy
simvastatin_response_-_Efficacy
not_provided		 . 0.61701 HET Link to ClinVar
194187 191350 Benign not_specified
not_provided		 0.54191 0.58387 HET Link to ClinVar
683171 663016 Benign not_provided . . HET Link to ClinVar
360809 311831 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 . 0.62859 HET Link to ClinVar
672176 662996 Benign not_provided . . HET Link to ClinVar
682737 663113 Benign not_provided . . HET Link to ClinVar
671862 663021 Benign not_provided . . HET Link to ClinVar
671863 662508 Benign not_provided . . HET Link to ClinVar
136347 140050 Benign/Likely_benign Long_QT_syndrome
Colorectal_cancer
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.3829 0.3722 HET Link to ClinVar
136349 140052 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.89239 0.9359 HOM Link to ClinVar
136350 140053 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.38378 0.3738 HET Link to ClinVar
671864 663007 Benign not_provided . . HET Link to ClinVar
682744 662510 Benign not_provided . . HET Link to ClinVar
671865 662514 Benign not_provided . . HET Link to ClinVar
671629 663025 Likely_benign not_provided . . HET Link to ClinVar
671866 663027 Benign not_provided . . HET Link to ClinVar
190508 188441 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
not_specified
Cardiovascular_phenotype
not_provided		 0.39892 0.42472 HET Link to ClinVar
671867 663018 Benign not_provided . . HET Link to ClinVar
671868 663024 Benign not_provided . . HET Link to ClinVar
671869 662517 Benign not_provided . . HET Link to ClinVar
682746 662525 Benign not_provided . . HET Link to ClinVar
671870 663128 Benign not_provided . . HET Link to ClinVar
671871 663033 Benign not_provided . . HET Link to ClinVar
682749 663037 Benign not_provided . . HET Link to ClinVar
136331 140034 Benign Long_QT_syndrome_11
not_specified		 0.39928 0.42851 HET Link to ClinVar
682750 663032 Benign not_provided . . HET Link to ClinVar
677984 662526 Benign not_provided . . HET Link to ClinVar
671872 663040 Benign not_provided . . HET Link to ClinVar
136333 140036 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.37946 0.35982 HET Link to ClinVar
671873 662537 Benign not_provided . . HET Link to ClinVar
682752 663131 Benign not_provided . . HET Link to ClinVar
682753 662538 Benign not_provided . . HET Link to ClinVar
677811 663134 Benign not_provided . . HET Link to ClinVar
136335 140038 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
not_provided		 0.40765 0.36242 HET Link to ClinVar
671874 662548 Benign not_provided . . HET Link to ClinVar
671885 663055 Benign not_provided . . HET Link to ClinVar
136340 140043 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.35934 0.29593 HET Link to ClinVar
136341 140044 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.38317 0.3738 HET Link to ClinVar
136342 140045 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.9962 0.9988 HOM Link to ClinVar
136343 140046 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.35888 0.29573 HET Link to ClinVar
669435 663035 Benign not_provided . . HET Link to ClinVar
136344 140047 Benign/Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided		 0.38459 0.3774 HET Link to ClinVar
671886 662564 Benign not_provided . . HET Link to ClinVar
677812 663153 Benign not_provided . . HET Link to ClinVar
671003 663043 Benign not_provided . . HET Link to ClinVar
671887 663069 Benign not_provided . . HET Link to ClinVar
671888 663070 Benign not_provided . . HET Link to ClinVar
671889 663049 Benign not_provided . . HET Link to ClinVar
682754 663050 Benign not_provided . . HET Link to ClinVar
677167 655811 Benign not_provided . . HET Link to ClinVar
360872 303560 Benign Angiokeratoma_corporis_diffusum_with_arteriovenous_fistulas
Cerebral_cavernous_malformation		 . . HET Link to ClinVar
360922 303594 Conflicting_interpretations_of_pathogenicity Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified		 . . HOM Link to ClinVar
93105 99012 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.92182 0.94988 HOM Link to ClinVar
93112 99019 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.87926 0.89397 HOM Link to ClinVar
17636 32675 risk_factor Bone_mineral_density_quantitative_trait_locus_15 0.38003 0.54353 HET Link to ClinVar
683354 663154 Benign not_provided . . HOM Link to ClinVar
683355 663053 Benign not_provided . . HOM Link to ClinVar
254957 252979 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase_deficient
not_specified
Osteogenesis_Imperfecta,_Dominant		 0.78155 0.82808 HOM Link to ClinVar
254958 252980 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase_deficient
not_specified
Osteogenesis_Imperfecta,_Dominant		 0.77422 0.82428 HOM Link to ClinVar
674811 663158 Benign not_provided . . HOM Link to ClinVar
674812 663163 Benign not_provided . . HOM Link to ClinVar
254952 252981 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase_deficient
not_specified
Osteogenesis_Imperfecta,_Dominant		 . 0.32728 HOM Link to ClinVar
254953 252982 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase_deficient
Ehlers-Danlos_syndrome,_classic_type
not_specified
Osteogenesis_Imperfecta,_Dominant		 . 0.82169 HOM Link to ClinVar
683330 663176 Benign not_provided . . HOM Link to ClinVar
674831 662589 Benign not_provided . . HOM Link to ClinVar
674833 663080 Benign not_provided . . HOM Link to ClinVar
360976 312030 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase_deficient
Osteogenesis_Imperfecta,_Dominant		 . 0.22145 HET Link to ClinVar
360983 303655 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase_deficient
Osteogenesis_Imperfecta,_Dominant		 . 0.78794 HET Link to ClinVar
487363 480429 Benign Myoclonic_dystonia 0.6954 0.76238 HOM Link to ClinVar
13735 28774 association,_risk_factor Enzyme_activity_finding
Coronary_artery_disease,_susceptibility_to
Coronary_artery_spasm_2,_susceptibility_to		 0.37705 0.54293 HET Link to ClinVar
13736 28775 association,_risk_factor Enzyme_activity_finding
Coronary_artery_disease,_susceptibility_to
Microvascular_complications_of_diabetes_5		 0.29127 0.18271 HET Link to ClinVar
13737 28776 other Enzyme_activity_finding . 0.34904 HET Link to ClinVar
402811 389826 Benign not_specified 0.19991 0.21186 HET Link to ClinVar
402812 389761 Benign not_specified 0.48975 0.4365 HOM Link to ClinVar
683863 663105 Benign not_provided . . HOM Link to ClinVar
260371 252989 Benign Citrin_deficiency
Citrullinemia_type_I
not_specified		 0.61792 0.60982 HOM Link to ClinVar
667997 655822 Benign Asparagine_synthetase_deficiency
not_provided		 . . HET Link to ClinVar
16916 31955 drug_response CYP3A4_PROMOTER_POLYMORPHISM
Cyp3a4-v
tacrolimus_response_-_Dosage		 . 0.76917 HOM Link to ClinVar
678005 662419 Benign not_provided . . HET Link to ClinVar
678154 662448 Benign not_provided . . HET Link to ClinVar
21369 34221 Benign Hereditary_hemochromatosis
Hemochromatosis_type_3
not_specified
not_provided		 0.24751 0.12999 HET Link to ClinVar
16602 31641 risk_factor Microvascular_complications_of_diabetes_2 . 0.67472 HET Link to ClinVar
403615 389693 Benign not_specified 0.51457 0.23702 HET Link to ClinVar
403616 389793 Benign not_specified 0.47243 0.44549 HET Link to ClinVar
769334 699700 Benign not_provided . . HET Link to ClinVar
811000 799458 Benign not_specified . . HET Link to ClinVar
811646 799459 Benign not_specified . . HET Link to ClinVar
811643 799464 Benign not_specified . . HET Link to ClinVar
358316 304468 Benign Plasminogen_activator_inhibitor_type_1_deficiency . 0.43091 HET Link to ClinVar
358319 309196 Benign Plasminogen_activator_inhibitor_type_1_deficiency . 0.43051 HET Link to ClinVar
358325 309203 Benign Plasminogen_activator_inhibitor_type_1_deficiency . . HOM Link to ClinVar
358338 309223 Benign Plasminogen_activator_inhibitor_type_1_deficiency . 0.34165 HET Link to ClinVar
48339 57501 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.315 0.44269 HET Link to ClinVar
358369 309106 Benign Lissencephaly,_Recessive . 0.9984 HOM Link to ClinVar
358373 301324 Likely_benign Lissencephaly,_Recessive . 0.02356 HET Link to ClinVar
95209 101109 Benign Lissencephaly_2
not_specified
Lissencephaly,_Recessive		 0.13892 0.23163 HET Link to ClinVar
669141 662447 Benign not_provided . . HET Link to ClinVar
668966 662059 Benign not_provided . . HET Link to ClinVar
669140 662443 Benign not_provided . . HET Link to ClinVar
670928 662072 Benign not_provided . . HET Link to ClinVar
669139 662461 Benign not_provided . . HET Link to ClinVar
95234 101134 Benign Lissencephaly_2
not_specified
Lissencephaly,_Recessive
not_provided		 0.98696 0.99561 HOM Link to ClinVar
95231 101131 Benign/Likely_benign Lissencephaly_2
not_specified
Lissencephaly,_Recessive		 0.04981 0.07808 HET Link to ClinVar
668965 662462 Benign not_provided . . HET Link to ClinVar
95230 101130 Benign Lissencephaly_2
not_specified
Lissencephaly,_Recessive
not_provided		 0.47219 0.64836 HET Link to ClinVar
669137 662451 Benign not_provided . . HOM Link to ClinVar
669136 662477 Benign not_provided . . HET Link to ClinVar
684074 662456 Benign not_provided . . HET Link to ClinVar
684073 662080 Benign not_provided . . HOM Link to ClinVar
259612 252553 Benign not_specified
not_provided		 . 0.71026 HOM Link to ClinVar
669135 662466 Benign not_provided . . HOM Link to ClinVar
669134 662464 Benign not_provided . . HET Link to ClinVar
684071 662468 Benign not_provided . . HOM Link to ClinVar
669132 662484 Benign not_provided . . HET Link to ClinVar
259608 252557 Benign not_specified 0.4137 0.47364 HET Link to ClinVar
669129 662488 Benign not_provided . . HET Link to ClinVar
669128 662092 Benign not_provided . . HET Link to ClinVar
669119 662498 Benign not_provided . . HET Link to ClinVar
684067 662097 Benign not_provided . . HET Link to ClinVar
684064 662103 Benign not_provided . . HET Link to ClinVar
668948 662499 Benign not_provided . . HET Link to ClinVar
670968 662505 Benign not_provided . . HET Link to ClinVar
669112 662490 Benign not_provided . . HET Link to ClinVar
670722 662496 Benign not_provided . . HET Link to ClinVar
95224 101124 Benign Lissencephaly_2
not_specified
Lissencephaly,_Recessive
not_provided		 0.49602 0.46546 HET Link to ClinVar
668946 662511 Benign not_provided . . HET Link to ClinVar
416378 395528 Benign not_specified 0.02737 0.01118 HET Link to ClinVar
358437 309207 Likely_benign Congenital_disorder_of_glycosylation . . HET Link to ClinVar
358442 309212 Likely_benign Congenital_disorder_of_glycosylation . 0.13019 HET Link to ClinVar
358445 301392 Likely_benign Congenital_disorder_of_glycosylation . . HET Link to ClinVar
358458 304590 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.1983 0.12979 HET Link to ClinVar
380060 369409 Benign not_specified 0.22286 0.13558 HET Link to ClinVar
95374 101273 Benign Congenital_disorder_of_glycosylation
not_specified		 0.55077 0.64836 HOM Link to ClinVar
516397 502153 Benign not_specified . . HET Link to ClinVar
358473 309240 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.26513 0.2488 HET Link to ClinVar
379958 369124 Benign not_specified 0.42304 0.37999 HOM Link to ClinVar
358515 304660 Likely_benign Pendred_syndrome
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.24141 HET Link to ClinVar
358538 309313 Benign Congenital_secretory_diarrhea,_chloride_type 0.99357 0.998 HOM Link to ClinVar
358545 309333 Benign Congenital_secretory_diarrhea,_chloride_type 0.15807 0.15096 HET Link to ClinVar
683735 662116 Benign not_provided . . HET Link to ClinVar
137094 140797 Benign/Likely_benign Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
Maple_syrup_urine_disease,_type_3
not_specified
not_provided		 0.61818 0.71605 HET Link to ClinVar
137102 140805 Benign Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
Maple_syrup_urine_disease,_type_3
not_specified
not_provided		 . 0.27576 HET Link to ClinVar
358575 309370 Benign Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency		 . 0.71066 HET Link to ClinVar
358579 301488 Benign Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency		 . 0.71446 HET Link to ClinVar
358583 301489 Likely_benign Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency		 . 0.27236 HET Link to ClinVar
358584 304740 Benign Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency		 . 0.71466 HET Link to ClinVar
358588 301500 Benign Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency		 . 0.71526 HET Link to ClinVar
358589 301501 Likely_benign Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency		 . 0.27217 HET Link to ClinVar
358592 304744 Uncertain_significance Maple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency		 . . HET Link to ClinVar
682993 662521 Benign not_provided . . HET Link to ClinVar
681226 662524 Benign not_provided . . HET Link to ClinVar
682982 662528 Benign not_provided . . HET Link to ClinVar
682981 662118 Benign not_provided . . HET Link to ClinVar
380841 368852 Benign not_specified 0.40556 0.43351 HET Link to ClinVar
681244 662529 Benign not_provided . . HET Link to ClinVar
682979 662540 Benign not_provided . . HOM Link to ClinVar
682978 662122 Benign not_provided . . HOM Link to ClinVar
681225 662497 Benign not_provided . . HOM Link to ClinVar
682977 662124 Benign not_provided . . HOM Link to ClinVar
380837 369153 Benign not_specified 0.64469 0.69549 HOM Link to ClinVar
681233 662126 Benign not_provided . . HET Link to ClinVar
681223 662128 Benign not_provided . . HET Link to ClinVar
682976 662500 Benign not_provided . . HOM Link to ClinVar
380838 370717 Benign not_specified . 0.28574 HET Link to ClinVar
682972 662546 Benign not_provided . . HET Link to ClinVar
681222 662531 Benign not_provided . . HOM Link to ClinVar
682968 662544 Benign not_provided . . HET Link to ClinVar
682975 662551 Benign not_provided . . HET Link to ClinVar
380839 369160 Benign not_specified 0.10127 0.09724 HET Link to ClinVar
682974 662556 Benign not_provided . . HET Link to ClinVar
682973 662135 Benign not_provided . . HET Link to ClinVar
682971 662519 Benign not_provided . . HET Link to ClinVar
682970 662558 Benign not_provided . . HET Link to ClinVar
682967 662561 Benign not_provided . . HET Link to ClinVar
681243 662563 Benign not_provided . . HOM Link to ClinVar
380836 368881 Benign not_specified 0.11785 0.09125 HET Link to ClinVar
682962 662520 Benign not_provided . . HOM Link to ClinVar
682961 662565 Benign not_provided . . HOM Link to ClinVar
682960 662569 Benign not_provided . . HOM Link to ClinVar
8706 23745 risk_factor Insulin_resistance,_susceptibility_to 0.21906 0.30871 HET Link to ClinVar
358653 304847 Benign Speech-language_disorder_1 0.01422 0.00998 HET Link to ClinVar
672478 662532 Benign not_provided . . HOM Link to ClinVar
673350 662606 Benign not_provided . . HOM Link to ClinVar
358681 304869 Uncertain_significance Renal_cell_carcinoma,_papillary,_1 . . HET Link to ClinVar
802347 790675 Benign Renal_cell_carcinoma,_papillary,_1 . . HET Link to ClinVar
802351 790679 Benign Renal_cell_carcinoma,_papillary,_1 . . HET Link to ClinVar
194024 191187 Conflicting_interpretations_of_pathogenicity Renal_cell_carcinoma,_papillary,_1
not_specified
not_provided		 . . HET Link to ClinVar
677866 662576 Likely_benign not_provided . . HET Link to ClinVar
51029 65697 Likely_benign Cystic_fibrosis
not_specified		 . 0.0012 HET Link to ClinVar
358760 304926 Benign Familial_exudative_vitreoretinopathy 0.80483 0.84625 HOM Link to ClinVar
260253 252574 Benign Familial_exudative_vitreoretinopathy
not_specified		 0.80322 0.85144 HOM Link to ClinVar
677020 662585 Benign not_provided . . HET Link to ClinVar
677019 662622 Benign not_provided . . HET Link to ClinVar
677017 662155 Benign not_provided . . HET Link to ClinVar
677016 662596 Benign not_provided . . HET Link to ClinVar
677015 662550 Benign not_provided . . HET Link to ClinVar
516586 501786 Benign not_specified 0.41138 0.41893 HET Link to ClinVar
677014 662599 Benign not_provided . . HET Link to ClinVar
677013 662600 Benign not_provided . . HET Link to ClinVar
516585 501547 Benign not_specified 0.69502 0.72185 HET Link to ClinVar
677012 662629 Benign not_provided . . HET Link to ClinVar
475094 457119 Benign not_provided . . HET Link to ClinVar
677011 662634 Benign not_provided . . HET Link to ClinVar
678869 662570 Benign not_provided . . HET Link to ClinVar
678868 662611 Benign not_provided . . HET Link to ClinVar
358778 304937 Benign Maturity_onset_diabetes_mellitus_in_young . 0.66913 HOM Link to ClinVar
358791 301741 Benign Maturity_onset_diabetes_mellitus_in_young 0.76323 0.66933 HOM Link to ClinVar
129878 135324 Benign Maturity_onset_diabetes_mellitus_in_young
not_specified		 0.75781 0.67053 HOM Link to ClinVar
129876 135322 Benign/Likely_benign Maturity_onset_diabetes_mellitus_in_young
not_specified		 0.04513 0.01777 HET Link to ClinVar
369576 353805 Benign Maturity_onset_diabetes_mellitus_in_young . 0.60244 HOM Link to ClinVar
778362 699807 Benign not_provided . . HET Link to ClinVar
358839 301816 Benign Leptin_deficiency_or_dysfunction
Monogenic_Non-Syndromic_Obesity		 . 0.94768 HET Link to ClinVar
358842 304954 Likely_benign Leptin_deficiency_or_dysfunction
Monogenic_Non-Syndromic_Obesity		 . 0.11861 HET Link to ClinVar
358845 309786 Likely_benign Leptin_deficiency_or_dysfunction
Monogenic_Non-Syndromic_Obesity		 . 0.46006 HET Link to ClinVar
772900 699809 Benign not_provided . . HET Link to ClinVar
358876 309824 Likely_benign Leber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant		 0.16094 0.13019 HET Link to ClinVar
768200 699817 Benign not_provided . . HET Link to ClinVar
679871 662641 Benign not_provided . . HET Link to ClinVar
680197 662171 Benign not_provided . . HOM Link to ClinVar
680198 662173 Benign not_provided . . HOM Link to ClinVar
129081 134527 Benign not_specified
not_provided		 0.09446 0.11002 HET Link to ClinVar
680200 662181 Benign not_provided . . HET Link to ClinVar
680201 662620 Benign not_provided . . HOM Link to ClinVar
226641 229552 Benign not_specified 0.99731 0.99062 HOM Link to ClinVar
3396 18435 Pathogenic,_risk_factor Rheumatoid_arthritis
Systemic_lupus_erythematosus_10		 . 0.41354 HET Link to ClinVar
768201 699841 Benign not_provided . . HET Link to ClinVar
3397 18436 risk_factor Systemic_lupus_erythematosus_10 . 0.53594 HET Link to ClinVar
670796 662623 Benign not_provided . . HET Link to ClinVar
260265 252607 Benign not_specified 0.4779 0.47684 HET Link to ClinVar
670783 662691 Benign not_provided . . HET Link to ClinVar
670239 662651 Benign not_provided . . HOM Link to ClinVar
670777 662655 Benign not_provided . . HET Link to ClinVar
670782 662203 Benign not_provided . . HET Link to ClinVar
668976 662650 Benign not_provided . . HET Link to ClinVar
670775 662653 Benign not_provided . . HET Link to ClinVar
670773 662206 Benign not_provided . . HET Link to ClinVar
260268 252612 Benign not_specified 0.40972 0.34185 HET Link to ClinVar
670772 662657 Benign not_provided . . HET Link to ClinVar
670778 662208 Benign not_provided . . HET Link to ClinVar
668974 662692 Benign not_provided . . HET Link to ClinVar
670776 662654 Benign not_provided . . HET Link to ClinVar
670770 662662 Benign not_provided . . HET Link to ClinVar
670768 662694 Benign not_provided . . HET Link to ClinVar
670753 662661 Benign not_provided . . HET Link to ClinVar
670752 655780 Benign not_provided . . HET Link to ClinVar
679866 662664 Benign not_provided . . HET Link to ClinVar
403462 389787 Benign not_specified 0.79749 0.75619 HOM Link to ClinVar
258474 252615 Benign not_specified . 0.58227 HOM Link to ClinVar
358883 301846 Benign Joubert_syndrome 0.53683 0.55531 HOM Link to ClinVar
358896 309694 Benign Joubert_syndrome 0.33946 0.34944 HOM Link to ClinVar
358899 309860 Likely_benign Joubert_syndrome 0.20622 0.23403 HOM Link to ClinVar
358905 301897 Benign Joubert_syndrome . . HOM Link to ClinVar
261053 252622 Benign Joubert_syndrome
not_specified		 0.44928 0.47863 HET Link to ClinVar
703788 692161 Benign not_provided . . HET Link to ClinVar
259891 252626 Benign not_specified
Congenital_Bile_Acid_Synthesis_Defect		 . . HOM Link to ClinVar
358956 305060 Benign Congenital_Bile_Acid_Synthesis_Defect 0.77813 0.77796 HOM Link to ClinVar
358962 309898 Likely_benign Congenital_Bile_Acid_Synthesis_Defect . 0.18171 HET Link to ClinVar
358965 305064 Benign Congenital_Bile_Acid_Synthesis_Defect . 0.77895 HOM Link to ClinVar
740628 750441 Benign not_provided . . HET Link to ClinVar
358999 309792 Benign Distal_Renal_Tubular_Acidosis,_Recessive . 0.20707 HOM Link to ClinVar
359000 309812 Likely_benign Distal_Renal_Tubular_Acidosis,_Recessive . 0.05132 HOM Link to ClinVar
261343 252628 Benign not_specified
Distal_Renal_Tubular_Acidosis,_Recessive		 0.71972 0.67752 HET Link to ClinVar
261342 252629 Benign not_specified
Distal_Renal_Tubular_Acidosis,_Recessive		 0.72671 0.71665 HET Link to ClinVar
261345 252632 Benign not_specified
Distal_Renal_Tubular_Acidosis,_Recessive		 0.70398 0.67951 HET Link to ClinVar
359047 302001 Uncertain_significance Noonan_syndrome
Noonan_syndrome_with_multiple_lentigines
Cardio-facio-cutaneous_syndrome		 . . HET Link to ClinVar
768208 699893 Benign not_provided . . HET Link to ClinVar
258803 252642 Benign/Likely_benign not_specified 0.50407 0.39377 HET Link to ClinVar
768210 699898 Benign not_provided . . HOM Link to ClinVar
679149 662683 Benign not_provided . . HOM Link to ClinVar
359094 302026 Benign Myotonia_congenita
not_specified		 . 0.32288 HET Link to ClinVar
802378 790706 Benign Congenital_myotonia,_autosomal_recessive_form . . HOM Link to ClinVar
679150 662687 Benign not_provided . . HOM Link to ClinVar
679151 662722 Benign not_provided . . HET Link to ClinVar
679908 662215 Benign not_provided . . HET Link to ClinVar
679909 662695 Benign not_provided . . HOM Link to ClinVar
679910 662702 Benign not_provided . . HOM Link to ClinVar
289007 273244 Benign not_specified 0.14641 0.09245 HET Link to ClinVar
679912 662707 Benign not_provided . . HET Link to ClinVar
359111 305233 Benign Myotonia_congenita
Congenital_myotonia,_autosomal_recessive_form
Congenital_myotonia,_autosomal_dominant_form
not_specified		 0.4108 0.41434 HET Link to ClinVar
680142 662718 Benign not_provided . . HET Link to ClinVar
668095 662742 Benign not_provided . . HET Link to ClinVar
680143 662724 Benign not_provided . . HET Link to ClinVar
359118 310073 Benign Myotonia_congenita 0.53969 0.47824 HET Link to ClinVar
359119 302046 Benign Myotonia_congenita
not_specified		 0.39742 0.36941 HET Link to ClinVar
718475 730472 Benign not_provided . . HET Link to ClinVar
359135 302073 Likely_benign Premature_ovarian_failure 0.21541 0.10563 HET Link to ClinVar
286525 270762 Benign Premature_ovarian_failure
not_specified		 0.6807 0.69629 HET Link to ClinVar
138535 142238 Benign Premature_ovarian_failure
not_specified		 0.26361 0.16214 HET Link to ClinVar
359144 305256 Benign Premature_ovarian_failure 0.6757 0.70627 HET Link to ClinVar
359152 310019 Benign Premature_ovarian_failure 0.63118 0.70627 HET Link to ClinVar
138536 142239 Benign/Likely_benign Premature_ovarian_failure
not_specified		 0.22857 0.10503 HET Link to ClinVar
673728 662740 Benign not_provided . . HET Link to ClinVar
359171 305281 Benign Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
not_provided		 . 0.51198 HOM Link to ClinVar
5492 20531 risk_factor Autism_15 . 0.50539 HOM Link to ClinVar
672545 662227 Likely_benign not_provided . . HET Link to ClinVar
668785 662758 Benign not_provided . . HET Link to ClinVar
679929 662775 Benign not_provided . . HOM Link to ClinVar
676748 662778 Benign not_provided . . HET Link to ClinVar
668787 662803 Benign not_provided . . HET Link to ClinVar
679930 662730 Benign not_provided . . HET Link to ClinVar
679932 662780 Benign not_provided . . HET Link to ClinVar
670632 662804 Benign not_provided . . HET Link to ClinVar
670633 662784 Benign not_provided . . HET Link to ClinVar
679927 662735 Benign not_provided . . HET Link to ClinVar
5491 20530 risk_factor Autism_15 . 0.58866 HOM Link to ClinVar
668101 662761 Benign not_provided . . HOM Link to ClinVar
95567 101465 Benign not_specified 0.37547 0.36022 HOM Link to ClinVar
679936 662808 Benign not_provided . . HET Link to ClinVar
668102 662269 Benign not_provided . . HET Link to ClinVar
679931 662809 Benign not_provided . . HOM Link to ClinVar
679933 662764 Benign not_provided . . HOM Link to ClinVar
670650 662814 Benign not_provided . . HOM Link to ClinVar
95573 101471 Benign History_of_neurodevelopmental_disorder
Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
not_specified		 0.54066 0.54912 HOM Link to ClinVar
670918 662765 Benign not_provided . . HET Link to ClinVar
668103 662770 Benign not_provided . . HOM Link to ClinVar
670851 662822 Benign not_provided . . HET Link to ClinVar
359199 305292 Benign Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome		 . . HET Link to ClinVar
359202 310071 Benign Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome		 . 0.66074 HET Link to ClinVar
359208 310185 Benign Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome		 . . HOM Link to ClinVar
359241 305319 Benign Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome		 . . HET Link to ClinVar
359261 310143 Benign Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome		 . . HET Link to ClinVar
359271 302173 Benign Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome		 . 0.79353 HET Link to ClinVar
259400 252646 Benign Weaver_syndrome
not_specified		 . . HOM Link to ClinVar
680130 662829 Benign not_provided . . HOM Link to ClinVar
680128 662836 Benign not_provided . . HOM Link to ClinVar
680126 662843 Benign not_provided . . HOM Link to ClinVar
670472 662278 Benign not_provided . . HOM Link to ClinVar
670931 662779 Benign not_provided . . HOM Link to ClinVar
210966 207472 Benign Weaver_syndrome
not_specified		 . . HOM Link to ClinVar
681701 662853 Benign not_provided . . HET Link to ClinVar
671950 662287 Benign not_provided . . HOM Link to ClinVar
200230 197235 Benign/Likely_benign Arrhythmia
Long_QT_syndrome
not_specified
Cardiovascular_phenotype
not_provided		 0.66584 0.77217 HOM Link to ClinVar
200228 197263 Benign/Likely_benign Arrhythmia
Long_QT_syndrome
not_specified
Cardiovascular_phenotype
not_provided		 0.47859 0.60843 HOM Link to ClinVar
36428 45091 Benign/Likely_benign Arrhythmia
Long_QT_syndrome
Cardiac_arrhythmia
not_specified
Cardiovascular_phenotype
not_provided		 0.29345 0.34165 HOM Link to ClinVar
255614 252648 Benign/Likely_benign Arrhythmia
Long_QT_syndrome
not_specified
Cardiovascular_phenotype
not_provided		 . 0.34265 HOM Link to ClinVar
671949 662883 Benign not_provided . . HOM Link to ClinVar
678032 662292 Benign not_provided . . HOM Link to ClinVar
671895 662298 Benign not_provided . . HOM Link to ClinVar
517660 508751 protective Metabolic_syndrome,_susceptibility_to . 0.76558 HOM Link to ClinVar
403248 389810 Benign not_specified 0.77013 0.81769 HET Link to ClinVar
14015 29054 Benign Ischemic_heart_disease,_susceptibility_to
Ischemic_stroke,_susceptibility_to
Alzheimer_disease,_late-onset,_susceptibility_to
Hypertension,_pregnancy-induced,_susceptibility_to
Hypertension_resistant_to_conventional_therapy
Coronary_artery_spasm_1,_susceptibility_to
not_specified		 0.75302 0.82368 HOM Link to ClinVar
403250 389797 Benign not_specified 0.84408 0.88838 HOM Link to ClinVar
403251 389815 Benign not_specified 0.3779 0.36182 HET Link to ClinVar
667623 655788 Benign not_provided . . HET Link to ClinVar
402398 390498 Benign not_specified . . HET Link to ClinVar
359320 302196 Likely_benign Wolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome		 . 0.55391 HET Link to ClinVar
359322 302204 Uncertain_significance Wolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome		 . . HET Link to ClinVar
359335 305426 Likely_benign Wolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome		 . 0.54992 HET Link to ClinVar
359342 302216 Likely_benign Wolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome		 . 0.55431 HET Link to ClinVar
683629 662787 Benign not_provided . . HOM Link to ClinVar
260694 252649 Benign not_specified 0.14304 0.14417 HET Link to ClinVar
674539 662896 Benign not_provided . . HET Link to ClinVar
260697 252652 Likely_benign not_specified 0.76467 0.80471 HET Link to ClinVar
683712 662322 Benign not_provided . . HOM Link to ClinVar
260692 252655 Benign/Likely_benign Wolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
not_specified
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
not_provided		 0.17431 0.1889 HET Link to ClinVar
226011 227765 drug_response antipsychotics_response_-_Toxicity/ADR . 0.57728 HOM Link to ClinVar
16631 31670 Uncertain_significance Autism_10 . 0.75739 HOM Link to ClinVar
16632 31671 Uncertain_significance Autism_10 . 0.75899 HOM Link to ClinVar
667597 662812 Benign not_provided . . HET Link to ClinVar
669661 662863 Benign not_provided . . HET Link to ClinVar
675003 662864 Benign not_provided . . HOM Link to ClinVar
255495 252656 Benign not_specified 0.58229 0.47504 HET Link to ClinVar
359404 310280 Benign Triphalangeal_thumb_polysyndactyly_syndrome . 0.19669 HOM Link to ClinVar
359410 310399 Benign Triphalangeal_thumb_polysyndactyly_syndrome . 0.19848 HOM Link to ClinVar
359418 310406 Benign Triphalangeal_thumb_polysyndactyly_syndrome . 0.09225 HET Link to ClinVar
669009 662907 Benign/Likely_benign not_provided . . HET Link to ClinVar
768220 699961 Benign not_provided . . HET Link to ClinVar
679305 662349 Benign not_provided . . HET Link to ClinVar
668118 662357 Benign not_provided . . HET Link to ClinVar
679296 662888 Benign not_provided . . HET Link to ClinVar
359472 302331 Benign Limb-Girdle_Muscular_Dystrophy,_Dominant
Myofibrillar_Myopathy,_Dominant		 . 0.98163 HOM Link to ClinVar
359474 310367 Benign Limb-Girdle_Muscular_Dystrophy,_Dominant
Myofibrillar_Myopathy,_Dominant		 . 0.36082 HET Link to ClinVar
516235 502043 Benign not_specified 0.05795 0.06669 HET Link to ClinVar
516204 502324 Benign Short-rib_thoracic_dysplasia_8_with_or_without_polydactyly
not_specified		 0.99196 0.99581 HOM Link to ClinVar
516219 501998 Benign not_specified 0.44104 0.57368 HOM Link to ClinVar
516205 501695 Benign not_specified 0.84191 0.88618 HET Link to ClinVar
516206 502000 Benign not_specified 0.79308 0.78055 HET Link to ClinVar
516225 502053 Benign not_specified . 0.11282 HET Link to ClinVar
679917 662767 Benign not_provided . . HET Link to ClinVar
518390 508830 Benign Slowed_nerve_conduction_velocity,_autosomal_dominant 0.66578 0.74241 HET Link to ClinVar
618536 609686 Benign Charcot-Marie-Tooth_disease
Slowed_nerve_conduction_velocity,_autosomal_dominant		 0.15937 0.16833 HET Link to ClinVar
518392 508832 Benign Slowed_nerve_conduction_velocity,_autosomal_dominant 0.94906 0.94948 HOM Link to ClinVar
363515 314971 Benign Primary_Microcephaly,_Recessive . 0.53874 HOM Link to ClinVar
158854 168641 Likely_benign not_specified 0.25536 0.37201 HOM Link to ClinVar
670445 662866 Benign not_provided . . HOM Link to ClinVar
670446 663359 Benign not_provided . . HOM Link to ClinVar
670447 663364 Benign not_provided . . HOM Link to ClinVar
683148 662867 Benign not_provided . . HOM Link to ClinVar
683150 663368 Benign not_provided . . HOM Link to ClinVar
158879 168657 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_1
not_specified
Primary_Microcephaly,_Recessive		 0.11533 0.07029 HOM Link to ClinVar
96126 102020 Benign Primary_autosomal_recessive_microcephaly_1
not_specified
Primary_Microcephaly,_Recessive		 0.99798 0.99441 HOM Link to ClinVar
683151 663363 Benign not_provided . . HOM Link to ClinVar
158834 168676 Benign/Likely_benign not_specified
Primary_Microcephaly,_Recessive		 . 0.14637 HOM Link to ClinVar
684323 663369 Benign not_provided . . HOM Link to ClinVar
158837 168680 Likely_benign not_specified 0.26481 0.14976 HOM Link to ClinVar
158838 168681 Likely_benign not_specified 0.34491 0.3097 HOM Link to ClinVar
158839 168682 Likely_benign not_specified . 0.28974 HOM Link to ClinVar
361187 312241 Benign Occult_macular_dystrophy . 0.5605 HOM Link to ClinVar
361200 312140 Benign Occult_macular_dystrophy . 0.46625 HET Link to ClinVar
361207 307279 Likely_benign Occult_macular_dystrophy 0.00147 0.0004 HET Link to ClinVar
361209 312150 Benign Occult_macular_dystrophy 0.47024 0.47205 HET Link to ClinVar
361212 312151 Benign Occult_macular_dystrophy 0.60941 0.65096 HET Link to ClinVar
361222 312285 Benign Occult_macular_dystrophy 0.37815 0.3121 HET Link to ClinVar
361235 312170 Benign Occult_macular_dystrophy 0.60707 0.64936 HET Link to ClinVar
361236 312296 Benign Occult_macular_dystrophy 0.94941 0.91973 HOM Link to ClinVar
361242 307332 Benign Occult_macular_dystrophy 0.25007 0.23742 HET Link to ClinVar
361259 312214 Benign Occult_macular_dystrophy 0.38257 0.3107 HET Link to ClinVar
361276 312243 Benign Occult_macular_dystrophy 0.29447 0.28175 HET Link to ClinVar
361282 303830 Benign Occult_macular_dystrophy 0.98196 0.9409 HOM Link to ClinVar
361309 312322 Benign Occult_macular_dystrophy 0.73087 0.70807 HOM Link to ClinVar
361349 312440 Benign Occult_macular_dystrophy 0.42352 0.3149 HET Link to ClinVar
361367 307405 Benign Occult_macular_dystrophy 0.84465 0.79732 HOM Link to ClinVar
361372 303896 Benign Occult_macular_dystrophy 0.39123 0.29473 HET Link to ClinVar
361437 307484 Benign Occult_macular_dystrophy . 0.48982 HET Link to ClinVar
361468 312558 Benign Maturity_onset_diabetes_mellitus_in_young . 0.42572 HET Link to ClinVar
361471 307514 Benign Maturity_onset_diabetes_mellitus_in_young . 0.82368 HOM Link to ClinVar
12319 27358 Conflicting_interpretations_of_pathogenicity Maturity_onset_diabetes_mellitus_in_young
Maturity-onset_diabetes_of_the_young,_type_11
Monogenic_diabetes
not_specified		 0.01171 0.01238 HET Link to ClinVar
128527 133976 Benign Maturity_onset_diabetes_mellitus_in_young
not_specified		 0.483 0.41693 HET Link to ClinVar
128529 133978 Benign Maturity_onset_diabetes_mellitus_in_young
not_specified		 0.83167 0.82768 HOM Link to ClinVar
361498 304030 Likely_benign Maturity_onset_diabetes_mellitus_in_young . 0.05012 HET Link to ClinVar
361500 304039 Benign Maturity_onset_diabetes_mellitus_in_young 0.49323 0.55711 HOM Link to ClinVar
12320 27359 Likely_benign Maturity_onset_diabetes_mellitus_in_young
Maturity-onset_diabetes_of_the_young,_type_11		 0.01147 0.00399 HET Link to ClinVar
12321 27360 Conflicting_interpretations_of_pathogenicity Maturity-onset_diabetes_of_the_young,_type_11 . 0.0645 HET Link to ClinVar
433016 426523 Conflicting_interpretations_of_pathogenicity Congenital_heart_disease . 0.87161 HOM Link to ClinVar
139596 143221 Conflicting_interpretations_of_pathogenicity Congenital_heart_disease
not_provided		 . 0.73443 HET Link to ClinVar
433015 426531 Conflicting_interpretations_of_pathogenicity Congenital_heart_disease . 0.27017 HET Link to ClinVar
139593 143218 Uncertain_significance not_provided . 0.36142 HET Link to ClinVar
139594 143219 Uncertain_significance not_provided . 0.22724 HET Link to ClinVar
433026 426534 Conflicting_interpretations_of_pathogenicity Congenital_heart_disease . 0.39996 HET Link to ClinVar
95430 101329 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.33798 0.29313 HOM Link to ClinVar
362319 313481 Benign Congenital_disorder_of_glycosylation . 0.74421 HOM Link to ClinVar
362320 313572 Benign Congenital_disorder_of_glycosylation . 0.75459 HOM Link to ClinVar
362328 304690 Likely_benign Congenital_disorder_of_glycosylation . 0.21326 HOM Link to ClinVar
14357 29396 Conflicting_interpretations_of_pathogenicity Malignant_tumor_of_prostate
Hereditary_cancer-predisposing_syndrome
not_provided		 . 0.00539 HET Link to ClinVar
670833 662763 Benign not_provided . . HOM Link to ClinVar
362350 313506 Benign Farber_disease . 0.71725 HET Link to ClinVar
362355 313616 Benign Farber_disease . 0.27556 HET Link to ClinVar
362356 313621 Benign Farber_disease . 0.27995 HET Link to ClinVar
362357 313622 Benign Farber_disease . . HET Link to ClinVar
362358 304724 Likely_benign Farber_disease . 0.07967 HET Link to ClinVar
362359 304726 Benign Farber_disease . 0.27496 HET Link to ClinVar
362364 308429 Likely_benign Farber_disease . 0.02835 HET Link to ClinVar
362365 304732 Likely_benign Farber_disease . 0.10623 HET Link to ClinVar
362367 304736 Likely_benign Farber_disease . 0.10603 HET Link to ClinVar
362372 304751 Benign Farber_disease . 0.36422 HET Link to ClinVar
678049 663331 Benign not_provided . . HET Link to ClinVar
678048 663292 Benign not_provided . . HOM Link to ClinVar
259283 253089 Benign Farber_disease
not_specified
not_provided		 0.94309 0.85024 HOM Link to ClinVar
362381 304754 Benign/Likely_benign Farber_disease
not_specified
not_provided		 0.0422 0.02276 HET Link to ClinVar
259280 253092 Benign not_specified 0.42155 0.39297 HOM Link to ClinVar
678046 663336 Benign not_provided . . HOM Link to ClinVar
678045 662774 Benign not_provided . . HOM Link to ClinVar
678030 663339 Benign not_provided . . HET Link to ClinVar
678029 663306 Benign not_provided . . HOM Link to ClinVar
558958 549640 Benign not_provided 0.41308 0.33906 HET Link to ClinVar
197388 194549 Benign Farber_disease
not_specified
not_provided		 0.47781 0.41993 HOM Link to ClinVar
197389 194550 Benign Farber_disease
not_specified
not_provided		 0.47965 0.42053 HOM Link to ClinVar
678028 663312 Benign not_provided . . HOM Link to ClinVar
678027 663341 Benign not_provided . . HOM Link to ClinVar
678026 662793 Benign not_provided . . HOM Link to ClinVar
259279 253093 Likely_benign not_specified . . HOM Link to ClinVar
259278 253094 Benign Farber_disease
not_specified
not_provided		 0.53855 0.42053 HOM Link to ClinVar
259277 253095 Benign not_specified
not_provided		 0.52437 0.42033 HOM Link to ClinVar
678025 663351 Benign not_provided . . HOM Link to ClinVar
678024 663366 Benign not_provided . . HOM Link to ClinVar
678023 663319 Benign not_provided . . HOM Link to ClinVar
678022 662813 Benign not_provided . . HOM Link to ClinVar
402397 389782 Benign not_specified
not_provided		 0.46507 0.41354 HOM Link to ClinVar
678021 662821 Benign not_provided . . HOM Link to ClinVar
672022 663322 Benign not_provided . . HOM Link to ClinVar
259275 253096 Benign/Likely_benign Farber_disease
not_specified
not_provided		 0.10638 0.11002 HOM Link to ClinVar
259276 253097 Benign not_specified . 0.10623 HOM Link to ClinVar
362390 308432 Uncertain_significance Farber_disease . 0.00699 HET Link to ClinVar
558961 549643 Benign not_provided 0.04215 0.02476 HET Link to ClinVar
17808 32847 Benign NAT1*17_ALLELE
not_specified		 0.0209 0.01697 HET Link to ClinVar
375653 362499 drug_response ethambutol,_isoniazid,_pyrazinamide,_and_rifampin_response_-_Toxicity/ADR 0.34489 0.39736 HET Link to ClinVar
722 15761 drug_response Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant
ethambutol,_isoniazid,_pyrazinamide,_and_rifampin_response_-_Toxicity/ADR,_Metabolism/PK		 0.27727 0.26498 HET Link to ClinVar
1550 16589 Conflicting_interpretations_of_pathogenicity Hyperlipidemia,_familial_combined,_susceptibility_to
Hyperapobetalipoproteinemia
Hyperlipoproteinemia,_type_I		 0.01336 0.00519 HET Link to ClinVar
1559 16598 association High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_11 . 0.34944 HET Link to ClinVar
1534 16573 Likely_benign LIPOPROTEIN_LIPASE_POLYMORPHISM
Hyperlipoproteinemia,_type_I		 0.0935 0.09245 HET Link to ClinVar
362430 308459 Benign Hyperlipoproteinemia,_type_I . 0.33746 HET Link to ClinVar
362432 313618 Likely_benign Hyperlipoproteinemia,_type_I . 0.09125 HET Link to ClinVar
362440 308491 Likely_benign Hyperlipoproteinemia,_type_I . 0.09026 HET Link to ClinVar
40131 48634 Benign Hyperlipoproteinemia,_type_I
High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_11		 . 0.33486 HET Link to ClinVar
362448 308525 Likely_benign Hyperlipoproteinemia,_type_I . 0.1276 HET Link to ClinVar
362450 313721 Likely_benign Hyperlipoproteinemia,_type_I . . HET Link to ClinVar
362452 313723 Benign Hyperlipoproteinemia,_type_I . 0.33307 HET Link to ClinVar
362455 313665 Benign Alopecia_universalis
Atrichia_with_papular_lesions		 . . HET Link to ClinVar
362466 304810 Benign Alopecia_universalis
Atrichia_with_papular_lesions		 . 0.35663 HET Link to ClinVar
362521 304851 Benign Alopecia_universalis
Atrichia_with_papular_lesions		 0.61231 0.57927 HET Link to ClinVar
362525 313732 Benign Alopecia_universalis
Atrichia_with_papular_lesions		 0.32049 0.29633 HET Link to ClinVar
362542 308587 Benign Alopecia_universalis
Atrichia_with_papular_lesions		 . 0.60823 HET Link to ClinVar
362569 313869 Benign/Likely_benign Idiopathic_fibrosing_alveolitis,_chronic_form
Pulmonary_Surfactant_Metabolism_Dysfunction,_Dominant
Osteogenesis_Imperfecta,_Recessive		 0.20598 0.10443 HET Link to ClinVar
362572 313871 Uncertain_significance Osteogenesis_Imperfecta,_Recessive . . HET Link to ClinVar
362573 313878 Benign Idiopathic_fibrosing_alveolitis,_chronic_form
Pulmonary_Surfactant_Metabolism_Dysfunction,_Dominant
Osteogenesis_Imperfecta,_Recessive
not_provided		 . 0.74141 HET Link to ClinVar
680492 663373 Benign not_provided . . HET Link to ClinVar
674968 663375 Benign not_provided . . HET Link to ClinVar
362592 313894 Benign/Likely_benign not_specified
Osteogenesis_Imperfecta,_Recessive		 0.05025 0.05032 HET Link to ClinVar
675091 663378 Benign not_provided . . HET Link to ClinVar
680516 663327 Benign not_provided . . HET Link to ClinVar
680493 663330 Benign not_provided . . HET Link to ClinVar
674720 663340 Benign not_provided . . HOM Link to ClinVar
675150 663381 Benign not_provided . . HET Link to ClinVar
362607 308665 Likely_benign Osteogenesis_Imperfecta,_Recessive . 0.13399 HET Link to ClinVar
768230 700522 Benign not_provided . . HET Link to ClinVar
720868 723003 Benign not_provided . . HET Link to ClinVar
162169 171882 not_provided not_provided . 0.40076 HET Link to ClinVar
362624 304973 Benign Charcot-Marie-Tooth_disease,_type_I . 0.71965 HET Link to ClinVar
362632 304991 Benign Charcot-Marie-Tooth_disease,_type_I . 0.54273 HET Link to ClinVar
362641 305005 Benign Charcot-Marie-Tooth_disease,_type_I . 0.72085 HET Link to ClinVar
694999 683010 Uncertain_significance Charcot-Marie-Tooth_disease . . HOM Link to ClinVar
670555 662832 Benign not_provided . . HET Link to ClinVar
667514 663383 Benign not_provided . . HET Link to ClinVar
362657 308710 Uncertain_significance Isolated_GnRH_Deficiency . 0.01997 HET Link to ClinVar
362664 308736 Benign Nocturnal_frontal_lobe_epilepsy . 0.80571 HOM Link to ClinVar
362665 308738 Benign Nocturnal_frontal_lobe_epilepsy . 0.40515 HET Link to ClinVar
362673 313911 Benign Nocturnal_frontal_lobe_epilepsy . 0.36542 HET Link to ClinVar
362682 313924 Benign Nocturnal_frontal_lobe_epilepsy . 0.36142 HET Link to ClinVar
362683 313926 Benign Nocturnal_frontal_lobe_epilepsy . 0.35903 HET Link to ClinVar
362685 313972 Benign Nocturnal_frontal_lobe_epilepsy . 0.78674 HOM Link to ClinVar
362686 313930 Benign Nocturnal_frontal_lobe_epilepsy . 0.78195 HOM Link to ClinVar
670757 662838 Benign not_provided . . HOM Link to ClinVar
668090 663394 Benign not_provided . . HET Link to ClinVar
679135 663396 Benign not_provided . . HET Link to ClinVar
362716 314020 Benign Nocturnal_frontal_lobe_epilepsy . 0.10663 HET Link to ClinVar
16603 31642 risk_factor Familial_hypercholesterolemia_1 0.11532 0.12959 HET Link to ClinVar
516218 502718 Benign not_specified . 0.46665 HET Link to ClinVar
257053 253100 Benign not_specified 0.99332 0.97784 HOM Link to ClinVar
439766 433599 Benign not_specified 0.44941 0.42392 HET Link to ClinVar
130763 136209 Benign Werner_syndrome
not_specified
not_provided		 0.70318 0.6873 HET Link to ClinVar
130757 136203 Benign/Likely_benign Werner_syndrome
not_specified
not_provided		 0.07523 0.04692 HET Link to ClinVar
256707 253104 Benign/Likely_benign Werner_syndrome
not_specified
not_provided		 . . HOM Link to ClinVar
130754 136200 Benign Werner_syndrome
not_specified
not_provided		 0.47043 0.375 HOM Link to ClinVar
130761 136207 Benign/Likely_benign Werner_syndrome
not_specified
not_provided		 0.29891 0.27356 HET Link to ClinVar
130762 136208 Benign/Likely_benign Werner_syndrome
not_specified
not_provided		 0.24164 0.19269 HET Link to ClinVar
732415 736637 Benign not_provided . . HET Link to ClinVar
679568 663338 Likely_benign not_provided . . HET Link to ClinVar
362826 314123 Benign Congenital_adrenal_hyperplasia . 0.55052 HET Link to ClinVar
448532 441233 Benign not_specified 0.97958 0.96566 HOM Link to ClinVar
362920 314238 Benign Craniosynostosis
Hypogonadism_with_anosmia
Pfeiffer_syndrome
Osteoglophonic_dysplasia
Nonsyndromic_Trigonocephaly		 . 0.95687 HOM Link to ClinVar
259175 253109 Benign not_specified
Cone-Rod_Dystrophy,_Recessive		 . . HOM Link to ClinVar
362954 309065 Likely_benign Spherocytosis,_Dominant . 0.98602 HOM Link to ClinVar
261317 253111 Benign/Likely_benign Spherocytosis_type_1
not_specified
Spherocytosis,_Dominant		 0.78047 0.78634 HET Link to ClinVar
261316 253112 Benign/Likely_benign Spherocytosis_type_1
not_specified
Spherocytosis,_Dominant		 0.21339 0.19469 HET Link to ClinVar
261315 253113 Benign Spherocytosis_type_1
not_specified		 . 0.97764 HOM Link to ClinVar
261301 253125 Benign/Likely_benign Spherocytosis_type_1
not_specified
Spherocytosis,_Dominant		 . 0.40715 HET Link to ClinVar
261319 253139 Benign/Likely_benign not_specified
Spherocytosis,_Dominant		 0.1382 0.10503 HET Link to ClinVar
587815 579425 Benign History_of_neurodevelopmental_disorder 0.20521 0.20947 HET Link to ClinVar
402969 389785 Benign not_specified 0.85321 0.69529 HOM Link to ClinVar
363099 305384 Benign Idiopathic_basal_ganglia_calcification_1 . 0.69369 HET Link to ClinVar
363113 309195 Likely_benign Dystonia . 0.01857 HET Link to ClinVar
684160 663400 Benign not_provided . . HOM Link to ClinVar
684171 663401 Benign not_provided . . HOM Link to ClinVar
684173 663358 Benign not_provided . . HOM Link to ClinVar
96501 102395 Benign Mucopolysaccharidosis,_MPS-III-C
not_specified
not_provided		 0.3072 0.22524 HET Link to ClinVar
96503 102397 Benign Sanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-C
not_specified
not_provided		 0.9974 0.99161 HOM Link to ClinVar
363174 305420 Benign Sanfilippo_syndrome . 0.82189 HOM Link to ClinVar
379395 371924 Benign not_specified 0.95985 0.98363 HOM Link to ClinVar
363238 314652 Benign Natural_killer_cell_and_glucocorticoid_deficiency_with_DNA_repair_defect
not_specified		 0.86686 0.91414 HET Link to ClinVar
403354 390587 Benign not_specified . . . Link to ClinVar
403355 389834 Benign not_specified 0.01128 0.00579 HET Link to ClinVar
403356 389843 Benign not_specified . 0.83187 HOM Link to ClinVar
403357 389863 Benign not_specified 0.87448 0.74601 HOM Link to ClinVar
5969 21008 Benign/Likely_benign Hypertriglyceridemia,_susceptibility_to
not_specified
Retinitis_Pigmentosa,_Dominant		 0.34751 0.25 HOM Link to ClinVar
95357 101256 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Dominant		 . 0.21566 HOM Link to ClinVar
363327 309408 Benign Chondrodysplasia . 0.88239 HOM Link to ClinVar
363378 309475 Uncertain_significance Chondrodysplasia . 0.00379 HET Link to ClinVar
128540 133989 Benign History_of_neurodevelopmental_disorder
not_specified		 0.42793 0.501 HET Link to ClinVar
158324 168596 Benign not_specified 0.81191 0.82708 HOM Link to ClinVar
2030 17069 Uncertain_significance Scoliosis,_idiopathic_3 . 0.86062 HOM Link to ClinVar
676809 663362 Benign not_provided . . HOM Link to ClinVar
158325 168598 Benign not_specified 0.83159 0.89697 HOM Link to ClinVar
260894 253153 Likely_benign not_specified 0.79536 0.82867 HOM Link to ClinVar
676842 663354 Benign not_provided . . HOM Link to ClinVar
673326 662852 Benign not_provided . . HOM Link to ClinVar
158326 168600 Benign not_specified 0.82588 0.85284 HOM Link to ClinVar
676810 662859 Benign not_provided . . HOM Link to ClinVar
673327 662860 Benign not_provided . . HOM Link to ClinVar
158327 168612 Benign not_specified 0.81372 0.83906 HOM Link to ClinVar
667608 663355 Benign not_provided . . HOM Link to ClinVar
676811 662865 Benign not_provided . . HOM Link to ClinVar
676812 663411 Benign not_provided . . HOM Link to ClinVar
667609 663419 Benign not_provided . . HOM Link to ClinVar
676813 663422 Benign not_provided . . HOM Link to ClinVar
363501 305684 Benign Hypogonadism_with_anosmia
CHARGE_association		 . 0.5004 HOM Link to ClinVar
363502 315016 Benign Hypogonadism_with_anosmia
CHARGE_association		 . 0.49581 HOM Link to ClinVar
363511 305698 Benign Hypogonadism_with_anosmia
CHARGE_association		 . 0.73762 HOM Link to ClinVar
363513 309718 Benign Hypogonadism_with_anosmia
CHARGE_association		 . 0.49621 HOM Link to ClinVar
92872 98779 Benign Ataxia_with_vitamin_E_deficiency
not_specified
not_provided		 . . HOM Link to ClinVar
379640 371950 Benign not_specified 0.02929 0.01418 HET Link to ClinVar
363596 309773 Likely_benign Familial_temporal_lobe_epilepsy_2 . 0.01338 HET Link to ClinVar
128847 134295 Benign/Likely_benign Familial_temporal_lobe_epilepsy_2
not_specified
not_provided		 0.11235 0.07907 HET Link to ClinVar
128846 134294 Benign/Likely_benign Familial_temporal_lobe_epilepsy_2
not_specified		 0.09439 0.08906 HET Link to ClinVar
128845 134293 Benign/Likely_benign Familial_temporal_lobe_epilepsy_2
not_specified
not_provided		 0.23596 0.23223 HET Link to ClinVar
369613 353842 Likely_benign Familial_temporal_lobe_epilepsy_2 . 0.60463 HET Link to ClinVar
225954 227767 drug_response irinotecan_response_-_Toxicity/ADR . 0.68351 HET Link to ClinVar
363624 315067 Benign Otofaciocervical_syndrome_1
Branchiootorenal_Spectrum_Disorders		 . 0.98782 HOM Link to ClinVar
363687 315216 Benign Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type 0.35452 0.21665 HET Link to ClinVar
675845 662875 Benign not_provided . . HET Link to ClinVar
203986 200170 Conflicting_interpretations_of_pathogenicity Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type
not_provided		 0.00011 . HET Link to ClinVar
363693 315225 Benign Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type 0.49457 0.47504 HET Link to ClinVar
363712 315245 Benign Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type . 0.21625 HET Link to ClinVar
681267 663492 Benign not_provided . . HOM Link to ClinVar
695131 684027 Benign not_provided . . HOM Link to ClinVar
670530 663407 Benign not_provided . . HOM Link to ClinVar
681269 662880 Benign not_provided . . HET Link to ClinVar
681275 662881 Benign not_provided . . HOM Link to ClinVar
681276 663412 Benign not_provided . . HET Link to ClinVar
261065 253176 Benign Charcot-Marie-Tooth_disease_type_2K
Charcot-Marie-Tooth_disease,_type_4A
not_specified
Charcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate
not_provided		 0.2774 0.21925 HET Link to ClinVar
681294 663509 Benign not_provided . . HET Link to ClinVar
670531 662885 Benign not_provided . . HOM Link to ClinVar
363721 315149 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate		 0.23342 0.23343 HET Link to ClinVar
363727 315268 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate		 0.98757 0.98982 HOM Link to ClinVar
363728 315275 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate		 0.23337 0.23343 HET Link to ClinVar
363752 315173 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate		 0.24126 0.26677 HET Link to ClinVar
363753 305869 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate		 0.22755 0.23363 HET Link to ClinVar
363758 315188 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate		 0.23293 0.22943 HET Link to ClinVar
363772 305894 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.51797 HOM Link to ClinVar
363777 305899 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.95427 HOM Link to ClinVar
363798 315255 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.98582 HOM Link to ClinVar
363804 305926 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.95427 HOM Link to ClinVar
167455 177936 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified		 0.98778 0.99621 HOM Link to ClinVar
369615 353844 Benign Osteopetrosis_with_renal_tubular_acidosis . 0.9988 HOM Link to ClinVar
254787 253178 Benign Osteopetrosis_with_renal_tubular_acidosis
not_specified		 0.5893 0.57768 HET Link to ClinVar
369616 353845 Benign Achromatopsia
Stargardt_Disease,_Recessive		 . 0.85623 HOM Link to ClinVar
363844 305952 Benign Achromatopsia
Stargardt_Disease,_Recessive		 . 0.53674 HOM Link to ClinVar
291003 275240 Conflicting_interpretations_of_pathogenicity not_provided 0.00051 . HET Link to ClinVar
95929 101825 Benign Achromatopsia
Achromatopsia_3
not_specified
Stargardt_Disease,_Recessive		 . 0.67971 HET Link to ClinVar
261090 253186 Benign Achromatopsia
Achromatopsia_3
not_specified
Stargardt_Disease,_Recessive		 0.89461 0.95747 HOM Link to ClinVar
363882 305979 Benign/Likely_benign Achromatopsia
Stargardt_Disease,_Recessive
not_provided		 . . HET Link to ClinVar
363896 310029 Benign Microcephaly,_normal_intelligence_and_immunodeficiency . 0.33546 HOM Link to ClinVar
363898 310032 Benign Microcephaly,_normal_intelligence_and_immunodeficiency . 0.33526 HOM Link to ClinVar
363905 315495 Benign Microcephaly,_normal_intelligence_and_immunodeficiency . 0.33027 HOM Link to ClinVar
363909 315368 Benign Microcephaly,_normal_intelligence_and_immunodeficiency . 0.32188 HOM Link to ClinVar
258769 253191 Benign not_specified 0.35346 0.37919 HET Link to ClinVar
183696 182835 Benign Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided		 0.34505 0.35284 HET Link to ClinVar
258768 253192 Benign Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided		 0.35294 0.37899 HET Link to ClinVar
183701 182857 Benign Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided		 0.46759 0.60863 HET Link to ClinVar
199080 196239 Benign Hereditary_cancer-predisposing_syndrome
not_specified		 0.34459 0.35304 HET Link to ClinVar
134876 138615 Benign Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided		 0.34527 0.35703 HET Link to ClinVar
183697 182905 Benign Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided		 0.35272 0.37919 HET Link to ClinVar
126307 131839 Benign not_specified
not_provided		 0.01451 0.01038 HET Link to ClinVar
96528 102422 Benign Nephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided		 0.63405 0.71506 HET Link to ClinVar
126301 131833 Benign Nephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided		 0.63694 0.69289 HET Link to ClinVar
369617 353846 Benign Pyruvate_dehydrogenase_phosphatase_deficiency . 0.49661 HET Link to ClinVar
363945 315572 Benign Pyruvate_dehydrogenase_phosphatase_deficiency 0.46757 0.49521 HET Link to ClinVar
363952 306040 Benign Pyruvate_dehydrogenase_phosphatase_deficiency . 0.59385 HET Link to ClinVar
681229 662926 Benign not_provided . . HET Link to ClinVar
676241 663529 Benign not_provided . . HET Link to ClinVar
681230 663455 Benign not_provided . . HET Link to ClinVar
671643 663427 Benign not_provided . . HET Link to ClinVar
559318 549952 Benign not_provided . . . Link to ClinVar
681196 662929 Benign not_provided . . HET Link to ClinVar
256850 253216 Benign not_specified . 0.03774 HET Link to ClinVar
681299 663547 Benign not_provided . . HET Link to ClinVar
684319 663434 Benign not_provided . . HET Link to ClinVar
262657 253219 Benign Cohen_syndrome
not_specified		 0.75035 0.70507 HOM Link to ClinVar
262652 253228 Benign Cohen_syndrome
not_specified		 0.17766 0.22364 HET Link to ClinVar
95821 101718 Benign/Likely_benign Cohen_syndrome
History_of_neurodevelopmental_disorder
not_specified		 . 0.11102 HET Link to ClinVar
361101 315548 Likely_benign Cohen_syndrome . . HET Link to ClinVar
361106 315735 Benign Cohen_syndrome . . HET Link to ClinVar
361107 310296 Likely_benign Cohen_syndrome . . HET Link to ClinVar
361108 310304 Benign Cohen_syndrome . . HET Link to ClinVar
361123 306190 Benign Cohen_syndrome . 0.20567 HET Link to ClinVar
262804 252991 Benign not_specified 0.19792 0.15056 HET Link to ClinVar
262805 252992 Benign not_specified 0.19858 0.15056 HET Link to ClinVar
221008 221749 Benign Ciliary_dyskinesia,_primary,_28
not_specified		 0.19907 0.15036 HET Link to ClinVar
410995 396533 Likely_benign not_provided 0.00105 . HET Link to ClinVar
262802 252995 Benign not_specified 0.61791 0.6274 HET Link to ClinVar
508097 501889 Benign CORNEAL_DYSTROPHY,_POSTERIOR_POLYMORPHOUS,_4
not_specified		 0.97426 0.96126 HOM Link to ClinVar
768252 700327 Benign not_provided . . HET Link to ClinVar
100143 106020 not_provided not_provided . 0.59784 HOM Link to ClinVar
100144 106021 not_provided not_provided . 0.3764 HOM Link to ClinVar
260177 252998 Benign not_specified . 0.72025 HET Link to ClinVar
361519 312576 Benign Trichorhinophalangeal_Syndrome . 1 HOM Link to ClinVar
361537 307528 Benign Trichorhinophalangeal_Syndrome . 0.61302 HET Link to ClinVar
361560 312625 Benign Trichorhinophalangeal_Syndrome . 1 HOM Link to ClinVar
361561 312569 Benign Trichorhinophalangeal_Syndrome . 1 HOM Link to ClinVar
361582 307545 Benign Trichorhinophalangeal_Syndrome . . HET Link to ClinVar
361601 312701 Benign Trichorhinophalangeal_Syndrome . 0.54553 HET Link to ClinVar
260331 253013 Benign not_specified . 0.77137 HET Link to ClinVar
260329 253016 Benign Trichorhinophalangeal_Syndrome
Trichorhinophalangeal_dysplasia_type_I
not_specified		 0.37519 . HET Link to ClinVar
361634 304025 Benign Trichorhinophalangeal_Syndrome . 0.6867 HET Link to ClinVar
361641 312678 Uncertain_significance Trichorhinophalangeal_Syndrome . . HOM Link to ClinVar
669108 663116 Benign not_provided . . HET Link to ClinVar
669106 663124 Benign not_provided . . HET Link to ClinVar
159805 168582 Benign History_of_neurodevelopmental_disorder
not_specified		 0.17277 0.13319 HET Link to ClinVar
159809 168583 Benign/Likely_benign not_specified 0.00393 0.0004 HET Link to ClinVar
668613 663141 Benign not_provided . . HET Link to ClinVar
1000 16039 risk_factor DIABETES_MELLITUS,_TYPE_2,_SUSCEPTIBILITY_TO 0.28489 0.25519 HET Link to ClinVar
255175 253019 Benign not_specified
Hereditary_Multiple_Osteochondromatosis		 0.39736 0.33846 HOM Link to ClinVar
255172 253022 Benign not_specified
Hereditary_Multiple_Osteochondromatosis		 0.1746 0.12021 HET Link to ClinVar
196215 193376 Benign Multiple_congenital_exostosis
not_specified
Hereditary_Multiple_Osteochondromatosis		 0.25958 0.17392 HET Link to ClinVar
196349 193510 Benign Hyperphosphatasemia_with_bone_disease
not_specified		 0.93393 0.92372 HOM Link to ClinVar
258775 253030 Benign Hyperphosphatasemia_with_bone_disease
not_specified		 0.60241 0.66673 HOM Link to ClinVar
361702 307683 Benign Hyperphosphatasemia_with_bone_disease . 0.6216 HOM Link to ClinVar
802438 790778 Benign MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_24 . . HET Link to ClinVar
802439 790779 Benign MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_24 . . HET Link to ClinVar
683815 663207 Benign not_provided . . HET Link to ClinVar
683812 663162 Benign not_provided . . HET Link to ClinVar
682822 663167 Benign not_provided . . HET Link to ClinVar
671065 663125 Benign not_provided . . HET Link to ClinVar
516650 502579 Benign not_specified 0.99997 1 HOM Link to ClinVar
669898 663170 Benign not_provided . . HET Link to ClinVar
670723 663216 Benign not_provided . . HET Link to ClinVar
682819 663133 Benign not_provided . . HET Link to ClinVar
380826 370065 Benign not_specified 0.23301 0.22544 HET Link to ClinVar
669859 663135 Benign not_provided . . HET Link to ClinVar
361745 312763 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13518 HET Link to ClinVar
361757 312809 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13518 HET Link to ClinVar
361759 307788 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13518 HET Link to ClinVar
361761 312820 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13518 HET Link to ClinVar
361763 304178 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13478 HET Link to ClinVar
361764 312821 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13478 HET Link to ClinVar
361766 304180 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13598 HET Link to ClinVar
361767 307793 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13478 HET Link to ClinVar
361776 312838 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13918 HET Link to ClinVar
361784 307838 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.13518 HET Link to ClinVar
361799 312891 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.72284 HET Link to ClinVar
361802 304197 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . . HET Link to ClinVar
361809 307864 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.28634 HET Link to ClinVar
361814 312923 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.3109 HET Link to ClinVar
361823 312925 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.72085 HET Link to ClinVar
361833 304229 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.14317 HET Link to ClinVar
361834 312958 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.29313 HET Link to ClinVar
361846 312980 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures		 . 0.26857 HET Link to ClinVar
670591 663175 Benign not_provided . . HET Link to ClinVar
674991 663144 Benign not_provided . . HET Link to ClinVar
670883 663183 Benign not_provided . . HET Link to ClinVar
683736 663160 Benign not_provided . . HOM Link to ClinVar
674897 663187 Benign not_provided . . HET Link to ClinVar
361897 313040 Benign Benign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
not_provided		 . 0.22744 HOM Link to ClinVar
683733 663202 Benign not_provided . . HOM Link to ClinVar
683731 663208 Benign not_provided . . HOM Link to ClinVar
260278 253039 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_19
not_specified		 0.41905 0.48622 HET Link to ClinVar
29906 38861 risk_factor Autoimmune_thyroid_disease_3 . 0.59245 HET Link to ClinVar
12697 27736 Benign/Likely_benign Thyroid_dyshormonogenesis
Autoimmune_thyroid_disease_3
not_specified		 . 0.67632 HET Link to ClinVar
258989 253046 Benign/Likely_benign Thyroid_dyshormonogenesis
not_specified		 0.58294 0.67272 HET Link to ClinVar
12698 27737 Benign/Likely_benign Thyroid_dyshormonogenesis
Autoimmune_thyroid_disease_3
not_specified		 0.58417 0.67492 HET Link to ClinVar
258992 253049 Benign not_specified 0.57061 0.39776 HET Link to ClinVar
258993 253050 Benign/Likely_benign Thyroid_dyshormonogenesis
not_specified		 0.56972 0.39876 HET Link to ClinVar
258994 253051 Benign/Likely_benign Thyroid_dyshormonogenesis
not_specified		 0.59147 0.47384 HET Link to ClinVar
258996 253052 Benign/Likely_benign Thyroid_dyshormonogenesis
not_specified		 0.4846 0.34685 HET Link to ClinVar
12696 27735 Benign/Likely_benign Thyroid_dyshormonogenesis
Autoimmune_thyroid_disease_3
not_specified		 0.32262 0.33247 HET Link to ClinVar
259000 253056 Benign/Likely_benign Thyroid_dyshormonogenesis
not_specified		 0.43471 0.34465 HET Link to ClinVar
259001 253057 Benign Thyroid_dyshormonogenesis
not_specified		 0.50237 0.52236 HET Link to ClinVar
259002 253058 Benign Thyroid_dyshormonogenesis
not_specified		 0.49759 0.53734 HET Link to ClinVar
362015 313152 Benign Charcot-Marie-Tooth_disease_type_4 . 0.83027 HET Link to ClinVar
667647 662665 Benign not_provided . . HET Link to ClinVar
673430 663201 Likely_benign not_provided . . HET Link to ClinVar
667649 663210 Benign not_provided . . HET Link to ClinVar
138433 142136 Benign Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.09043 0.09265 HET Link to ClinVar
667644 663213 Benign not_provided . . HET Link to ClinVar
667641 663290 Benign not_provided . . HOM Link to ClinVar
667640 662705 Benign not_provided . . HOM Link to ClinVar
259916 253060 Benign Charcot-Marie-Tooth_disease,_type_4D
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.56349 0.61342 HOM Link to ClinVar
369595 353824 Benign Birk-Barel_Intellectual_Disability_Dysmorphism_Syndrome . 1 HOM Link to ClinVar
362074 308163 Benign Intellectual_Disability,_Recessive 0.63085 0.53834 HOM Link to ClinVar
130626 136072 Benign not_specified
Intellectual_Disability,_Recessive		 0.12324 0.07169 HET Link to ClinVar
130625 136071 Benign History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive		 0.12368 0.07129 HET Link to ClinVar
768267 777712 Benign not_provided . . HET Link to ClinVar
691405 679171 Uncertain_significance Hirschsprung_disease . . HET Link to ClinVar
691482 679172 Uncertain_significance Hirschsprung_disease . . HOM Link to ClinVar
362189 304553 Benign Hyperaldosteronism,_familial,_type_I
Corticosterone_methyloxidase_type_2_deficiency
Corticosterone_methyloxidase_type_1_deficiency		 . 0.999 HOM Link to ClinVar
362191 304554 Benign Hyperaldosteronism,_familial,_type_I
Corticosterone_methyloxidase_type_2_deficiency
Corticosterone_methyloxidase_type_1_deficiency		 . 0.13219 HOM Link to ClinVar
362207 308315 Benign Hyperaldosteronism,_familial,_type_I
Corticosterone_methyloxidase_type_2_deficiency
Corticosterone_methyloxidase_type_1_deficiency
not_specified		 0.90939 0.82348 HOM Link to ClinVar
263135 253062 Benign Amelogenesis_imperfecta,_hypocalcification_type
not_specified		 0.68153 0.52915 HOM Link to ClinVar
263133 253064 Benign Amelogenesis_imperfecta,_hypocalcification_type
not_specified		 0.94992 0.82328 HOM Link to ClinVar
263132 253065 Benign not_specified 0.27669 0.16594 HET Link to ClinVar
93012 98919 Benign not_specified 0.43074 0.23822 HET Link to ClinVar
93033 98940 Benign not_specified 0.41913 0.47704 HET Link to ClinVar
93030 98937 Benign not_specified 0.41899 0.47844 HET Link to ClinVar
93025 98932 Benign not_specified
not_provided		 0.43432 0.49042 HET Link to ClinVar
93023 98930 Benign not_specified 0.42749 0.47824 HET Link to ClinVar
93022 98929 Benign not_specified . 0.44609 HET Link to ClinVar
93020 98927 Benign not_specified 0.3451 0.23403 HET Link to ClinVar
93018 98925 Benign not_specified
not_provided		 . 0.47185 HET Link to ClinVar
93089 98996 Benign/Likely_benign not_specified 0.05685 0.02756 HET Link to ClinVar
93087 98994 Benign not_specified 0.34437 0.23063 HET Link to ClinVar
93084 98991 Benign not_specified 0.34463 0.23023 HET Link to ClinVar
93083 98990 Benign not_specified 0.40851 0.46665 HET Link to ClinVar
93078 98985 Benign not_specified 0.4297 0.23103 HET Link to ClinVar
256178 253068 Benign not_specified
not_provided		 0.34478 0.23063 HET Link to ClinVar
256177 253069 Benign not_specified
not_provided		 0.34321 0.23063 HET Link to ClinVar
93073 98980 Benign not_specified 0.35355 0.23023 HET Link to ClinVar
93071 98978 Benign not_specified
not_provided		 0.46515 0.23063 HET Link to ClinVar
93068 98975 Benign not_specified 0.36315 0.23083 HET Link to ClinVar
93067 98974 Benign not_specified 0.36158 0.23083 HET Link to ClinVar
93056 98963 Benign not_specified 0.37586 0.23083 HET Link to ClinVar
93052 98959 Benign not_specified
not_provided		 0.3295 0.22484 HET Link to ClinVar
93051 98958 Benign not_specified . 0.23263 HET Link to ClinVar
93050 98957 Benign not_specified 0.33565 0.23263 HET Link to ClinVar
93049 98956 Benign not_specified 0.39123 0.23103 HET Link to ClinVar
667911 663307 Benign not_provided . . HET Link to ClinVar
683693 663236 Benign not_provided . . HET Link to ClinVar
667909 663240 Benign not_provided . . HET Link to ClinVar
667891 663226 Benign not_provided . . HET Link to ClinVar
667889 663314 Benign not_provided . . HET Link to ClinVar
129947 135393 Benign not_specified 0.41277 0.46665 HET Link to ClinVar
667887 663229 Benign not_provided . . HET Link to ClinVar
667885 663235 Benign not_provided . . HET Link to ClinVar
256175 253071 Benign not_specified
not_provided		 0.3438 0.23103 HET Link to ClinVar
93047 98954 Benign not_specified 0.34372 0.23083 HET Link to ClinVar
93046 98953 Benign not_specified 0.34895 0.23083 HET Link to ClinVar
93044 98951 Benign not_specified 0.36871 0.23083 HET Link to ClinVar
667881 662711 Benign not_provided . . HET Link to ClinVar
683692 663245 Benign not_provided . . HET Link to ClinVar
256173 253073 Benign not_specified
not_provided		 0.33543 0.22524 HET Link to ClinVar
195654 192815 Conflicting_interpretations_of_pathogenicity not_specified
not_provided		 0.00151 0.0006 HET Link to ClinVar
129938 135384 Benign not_specified 0.74106 0.57189 HET Link to ClinVar
667921 662716 Benign not_provided . . HET Link to ClinVar
683690 663257 Benign not_provided . . HET Link to ClinVar
93038 98945 Benign not_specified
not_provided		 . . HET Link to ClinVar
93035 98942 Benign not_specified 0.35985 0.32748 HET Link to ClinVar
129934 135380 Benign not_specified 0.36687 0.23143 HET Link to ClinVar
227018 231312 Benign not_specified 0.38044 0.39836 HET Link to ClinVar
667918 662720 Benign not_provided . . HET Link to ClinVar
667917 663316 Benign not_provided . . HET Link to ClinVar
667915 663248 Benign not_provided . . HET Link to ClinVar
256170 253075 Benign not_specified
not_provided		 0.3301 0.23203 HET Link to ClinVar
129928 135374 Benign not_specified 0.33022 0.23143 HET Link to ClinVar
667912 662733 Benign not_provided . . HET Link to ClinVar
256168 253076 Benign not_specified
not_provided		 . 0.39337 HET Link to ClinVar
667892 663266 Benign not_provided . . HET Link to ClinVar
667890 663250 Benign not_provided . . HET Link to ClinVar
667888 663258 Benign not_provided . . HET Link to ClinVar
129949 135395 Benign not_specified
not_provided		 . 0.23243 HET Link to ClinVar
667886 663269 Benign not_provided . . HET Link to ClinVar
667884 662737 Benign not_provided . . HET Link to ClinVar
256171 253077 Benign not_specified
not_provided		 . 0.23043 HET Link to ClinVar
667880 663274 Benign not_provided . . HET Link to ClinVar
667877 663318 Benign not_provided . . HET Link to ClinVar
667860 663283 Benign not_provided . . HET Link to ClinVar
683688 663268 Benign not_provided . . HET Link to ClinVar
683686 663323 Benign not_provided . . HET Link to ClinVar
379959 370173 Benign not_specified
not_provided		 0.87931 0.88958 HOM Link to ClinVar
403433 389762 Benign not_specified 0.94626 0.88459 HOM Link to ClinVar
403434 389779 Benign not_specified 0.94716 0.88478 HOM Link to ClinVar
403435 389855 Benign not_specified 0.98487 0.95328 HOM Link to ClinVar
402587 390517 Benign not_specified 0.06813 0.03594 HET Link to ClinVar
402588 390518 Benign not_specified 0.04958 0.02336 HET Link to ClinVar
380872 371714 Benign not_specified . 0.45727 HET Link to ClinVar
403459 390475 Benign not_specified 0.96782 0.98463 HOM Link to ClinVar
259199 253080 Benign Holoprosencephaly_sequence
not_specified		 0.97085 0.94569 HOM Link to ClinVar
94894 100794 Benign not_specified 0.46696 0.40056 HOM Link to ClinVar
94893 100793 Benign not_specified 0.50634 0.43331 HOM Link to ClinVar
167573 178005 Benign not_specified 0.97283 0.94609 HOM Link to ClinVar
94891 100791 Benign not_specified
not_provided		 0.4612 0.38439 HOM Link to ClinVar
94890 100790 Benign Baller-Gerold_syndrome
not_specified		 0.01114 0.00539 HET Link to ClinVar
94886 100786 Benign not_specified 0.48016 0.39457 HOM Link to ClinVar
94884 100784 Benign not_specified 0.47156 0.40096 HOM Link to ClinVar
94898 100798 Benign not_specified
not_provided		 0.43771 0.44768 HOM Link to ClinVar
94897 100797 Benign not_specified
not_provided		 0.43943 0.37001 HET Link to ClinVar
135161 138900 Benign not_specified 0.97332 0.94329 HOM Link to ClinVar
94885 100785 Benign not_specified
not_provided		 0.55522 0.57508 HOM Link to ClinVar
403369 389833 Benign not_specified 0.97398 0.94768 HOM Link to ClinVar
673270 664229 Benign not_provided . . HOM Link to ClinVar
676901 663725 Benign not_provided . . HOM Link to ClinVar
673882 663757 Benign not_provided . . HOM Link to ClinVar
137155 140858 Benign Hyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_specified
Hyper-IgE_syndrome		 0.32449 0.30771 HOM Link to ClinVar
178766 175103 Benign Hyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_specified
Hyper-IgE_syndrome		 0.52063 0.52975 HET Link to ClinVar
673271 663777 Benign not_provided . . HOM Link to ClinVar
676843 664271 Benign not_provided . . HOM Link to ClinVar
667665 664316 Benign not_provided . . HET Link to ClinVar
263271 253508 Benign not_specified . 0.69589 HET Link to ClinVar
163174 174691 Benign not_specified
Hyper-IgE_syndrome		 0.24879 0.19968 HET Link to ClinVar
669669 664571 Benign not_provided . . HET Link to ClinVar
676844 664347 Benign not_provided . . HET Link to ClinVar
137137 140840 Benign not_specified
Hyper-IgE_syndrome		 0.22256 0.21586 HET Link to ClinVar
673273 663824 Benign not_provided . . HET Link to ClinVar
676820 663828 Benign not_provided . . HET Link to ClinVar
676845 664353 Benign not_provided . . HET Link to ClinVar
674865 664386 Benign not_provided . . HET Link to ClinVar
673274 664377 Benign not_provided . . HET Link to ClinVar
676821 664379 Benign not_provided . . HET Link to ClinVar
137139 140842 Benign not_specified
Hyper-IgE_syndrome		 0.23316 0.22863 HET Link to ClinVar
675026 664646 Benign not_provided . . HET Link to ClinVar
676846 664652 Benign not_provided . . HET Link to ClinVar
676836 664400 Benign not_provided . . HET Link to ClinVar
676851 663847 Benign not_provided . . HET Link to ClinVar
673290 664407 Benign not_provided . . HET Link to ClinVar
137141 140844 Benign not_specified
Hyper-IgE_syndrome		 0.23444 0.25499 HET Link to ClinVar
673291 663849 Benign not_provided . . HET Link to ClinVar
673883 664665 Benign not_provided . . HET Link to ClinVar
673884 663861 Benign not_provided . . HET Link to ClinVar
667666 664410 Benign not_provided . . HOM Link to ClinVar
366969 319385 Conflicting_interpretations_of_pathogenicity Hyper-IgE_syndrome
not_provided		 0.00072 0.0004 HET Link to ClinVar
178769 175111 Benign Hyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_specified
Hyper-IgE_syndrome		 . 0.39177 HOM Link to ClinVar
178770 174698 Benign not_specified 0.99783 0.9994 HOM Link to ClinVar
667667 664678 Benign not_provided . . HOM Link to ClinVar
667680 663875 Benign not_provided . . HOM Link to ClinVar
667681 663876 Benign not_provided . . HOM Link to ClinVar
163176 174825 Benign not_specified
Hyper-IgE_syndrome		 0.75771 0.71426 HOM Link to ClinVar
667682 664429 Benign not_provided . . HOM Link to ClinVar
667683 664421 Benign not_provided . . HOM Link to ClinVar
163177 174549 Benign not_specified
Hyper-IgE_syndrome		 0.75878 0.72105 HOM Link to ClinVar
178771 174550 Benign Hyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_specified
Hyper-IgE_syndrome		 0.82006 0.80391 HOM Link to ClinVar
667684 663878 Benign not_provided . . HOM Link to ClinVar
263270 253561 Benign not_specified . 0.63299 HOM Link to ClinVar
367102 308579 Benign Hyper-IgE_syndrome . 0.85603 HOM Link to ClinVar
717026 723621 Benign not_provided . . HET Link to ClinVar
802456 790886 Benign Nicolaides-Baraitser_syndrome . . HET Link to ClinVar
366341 318557 Likely_benign Nicolaides-Baraitser_syndrome . 0.01877 HET Link to ClinVar
366342 317990 Likely_benign Nicolaides-Baraitser_syndrome . 0.01098 HET Link to ClinVar
667580 664235 Benign not_provided . . HET Link to ClinVar
366352 318001 Benign Congenital_cerebellar_hypoplasia
not_provided		 . 0.8123 HOM Link to ClinVar
366354 318566 Benign Congenital_cerebellar_hypoplasia . 0.3099 HOM Link to ClinVar
290493 274730 Conflicting_interpretations_of_pathogenicity Congenital_cerebellar_hypoplasia
not_specified		 . . HOM Link to ClinVar
130713 136159 Benign Congenital_cerebellar_hypoplasia
not_specified		 0.32138 0.29493 HET Link to ClinVar
667581 664287 Benign not_provided . . HET Link to ClinVar
667582 664526 Benign not_provided . . HET Link to ClinVar
667583 664531 Benign not_provided . . HOM Link to ClinVar
130701 136147 Likely_benign Congenital_cerebellar_hypoplasia
not_specified		 . 0.08167 HET Link to ClinVar
674397 664300 Benign not_provided . . HET Link to ClinVar
674398 664545 Benign not_provided . . HET Link to ClinVar
670831 664240 Benign not_provided . . HET Link to ClinVar
130707 136153 Likely_benign Congenital_cerebellar_hypoplasia
not_specified		 0.145 0.07388 HET Link to ClinVar
670832 663741 Benign not_provided . . HET Link to ClinVar
672298 663743 Benign not_provided . . HET Link to ClinVar
130709 136155 Benign Congenital_cerebellar_hypoplasia
not_specified		 0.18801 0.17173 HET Link to ClinVar
672299 664248 Benign not_provided . . HET Link to ClinVar
366383 307997 Likely_benign Congenital_cerebellar_hypoplasia . 0.09585 HET Link to ClinVar
366402 318131 Benign Cone_dystrophy_3 . 0.19728 HET Link to ClinVar
366403 312358 Benign Cone_dystrophy_3 0.61265 0.67193 HOM Link to ClinVar
96357 102251 Benign Cone_dystrophy_3
not_specified		 0.61159 0.66034 HOM Link to ClinVar
96362 102256 Benign Cone_dystrophy_3
not_specified		 0.48958 0.48003 HOM Link to ClinVar
366482 318746 Likely_benign Cone_dystrophy_3 . 0.05771 HET Link to ClinVar
366891 319285 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism . . . Link to ClinVar
366897 308373 Uncertain_significance Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism . 0.00639 HET Link to ClinVar
366912 318680 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism . 0.79313 HOM Link to ClinVar
366916 308391 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism . 0.95308 HOM Link to ClinVar
366929 318714 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism . 0.96765 HOM Link to ClinVar
366935 318738 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism . 0.34365 HET Link to ClinVar
366938 318750 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism . 0.38658 HET Link to ClinVar
366946 319366 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism . . HOM Link to ClinVar
129160 134606 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism
not_specified		 0.67299 0.67612 HOM Link to ClinVar
129159 134605 Benign Diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism
not_specified		 0.99973 0.999 HOM Link to ClinVar
367039 308515 Conflicting_interpretations_of_pathogenicity Dicarboxylic_aminoaciduria
not_provided		 0.00667 0.00339 HET Link to ClinVar
367042 319503 Benign Dicarboxylic_aminoaciduria 0.39707 0.32828 HET Link to ClinVar
367084 308540 Benign Dicarboxylic_aminoaciduria . 0.22804 HET Link to ClinVar
367114 318934 Benign Budd-Chiari_syndrome . 0.29074 HET Link to ClinVar
367122 318940 Benign Budd-Chiari_syndrome
not_specified		 0.32569 0.35823 HET Link to ClinVar
367129 319566 Benign Budd-Chiari_syndrome
not_specified		 0.53275 0.61681 HET Link to ClinVar
367149 308609 Likely_benign Budd-Chiari_syndrome . . HET Link to ClinVar
773508 777823 Likely_benign not_provided . . HET Link to ClinVar
255454 253564 Benign/Likely_benign Non-ketotic_hyperglycinemia
not_specified		 . . HET Link to ClinVar
255459 253566 Benign Non-ketotic_hyperglycinemia
not_specified
not_provided		 0.24241 0.19209 HOM Link to ClinVar
783027 712042 Benign not_provided . . HET Link to ClinVar
256642 253304 Benign not_specified . 0.22085 HET Link to ClinVar
256643 253305 Benign not_specified . 0.25978 HET Link to ClinVar
364861 316831 Benign Oculocutaneous_albinism . 0.252 HET Link to ClinVar
364863 310952 Benign Oculocutaneous_albinism . . HOM Link to ClinVar
364865 310966 Benign Oculocutaneous_albinism . 0.24101 HET Link to ClinVar
364867 316559 Benign Oculocutaneous_albinism . . HET Link to ClinVar
364872 316849 Benign Oculocutaneous_albinism . 0.26158 HOM Link to ClinVar
364873 316569 Benign Oculocutaneous_albinism . 0.27256 HOM Link to ClinVar
211516 207631 Benign not_specified 0.66471 0.55691 HOM Link to ClinVar
366056 312029 Benign Marles_Greenberg_Persaud_syndrome . 0.4357 HET Link to ClinVar
366057 312034 Benign Marles_Greenberg_Persaud_syndrome . 0.55631 HET Link to ClinVar
366059 318188 Benign Marles_Greenberg_Persaud_syndrome . 0.57828 HET Link to ClinVar
366061 312051 Benign Marles_Greenberg_Persaud_syndrome . 0.13059 HET Link to ClinVar
366063 318193 Likely_benign Marles_Greenberg_Persaud_syndrome . 0.08866 HET Link to ClinVar
366066 312062 Benign Marles_Greenberg_Persaud_syndrome . 0.72344 HOM Link to ClinVar
366071 318200 Benign Marles_Greenberg_Persaud_syndrome . 0.72304 HOM Link to ClinVar
366075 317706 Likely_benign Marles_Greenberg_Persaud_syndrome . . HET Link to ClinVar
366079 307789 Likely_benign Marles_Greenberg_Persaud_syndrome . 0.0627 HET Link to ClinVar
366085 317732 Likely_benign Marles_Greenberg_Persaud_syndrome . 0.05571 HET Link to ClinVar
262545 253486 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.73855 0.73502 HOM Link to ClinVar
262543 253488 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.32681 0.25419 HOM Link to ClinVar
262542 253489 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.86785 0.84724 HOM Link to ClinVar
262541 253490 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.51006 0.41673 HOM Link to ClinVar
262539 253492 Benign/Likely_benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.13406 0.10643 HOM Link to ClinVar
262538 253493 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.2176 0.17692 HET Link to ClinVar
262537 253494 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.32431 0.25998 HET Link to ClinVar
262536 253495 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.28086 0.15176 HOM Link to ClinVar
366142 312147 Likely_benign Marles_Greenberg_Persaud_syndrome 0.0303 0.01957 HET Link to ClinVar
262535 253496 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.23026 0.16414 HOM Link to ClinVar
262534 253497 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.60087 0.5008 HET Link to ClinVar
262546 253498 Benign Marles_Greenberg_Persaud_syndrome
not_specified		 0.8054 0.76957 HOM Link to ClinVar
366172 318323 Benign Marles_Greenberg_Persaud_syndrome 0.21001 0.2484 HET Link to ClinVar
366182 318337 Benign Marles_Greenberg_Persaud_syndrome . 0.22844 HET Link to ClinVar
120236 125830 not_provided Hypotension . 0.07887 HET Link to ClinVar
402871 389806 Benign not_specified 0.32427 0.28095 HET Link to ClinVar
402872 389891 Benign not_specified . 0.60383 HOM Link to ClinVar
402873 389813 Benign not_specified 0.74239 0.76857 HET Link to ClinVar
366256 317926 Benign Diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma . 0.46985 HET Link to ClinVar
366317 307951 Likely_benign Diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma . 0.01098 HET Link to ClinVar
366434 318153 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malformations 0.46488 0.41434 HET Link to ClinVar
518397 508837 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malformations . 0.41494 HET Link to ClinVar
366439 318674 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malformations 0.21137 0.15096 HET Link to ClinVar
366450 312397 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malformations
not_specified		 . 0.22424 HET Link to ClinVar
366455 318689 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malformations 0.17237 0.22304 HET Link to ClinVar
366478 318732 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malformations . 0.20168 HET Link to ClinVar
95315 101214 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Dominant		 0.18519 0.11422 HET Link to ClinVar
95313 101212 Benign/Likely_benign not_specified
Retinitis_Pigmentosa,_Dominant		 0.20751 0.17911 HET Link to ClinVar
214123 211373 Benign not_specified
Ataxia_with_Oculomotor_Apraxia
Coenzyme_Q10_deficiency,_Oculomotor_Apraxia_Type		 . . HOM Link to ClinVar
366647 318951 Benign Congenital_disorder_of_glycosylation . 0.94848 HOM Link to ClinVar
208122 204389 Uncertain_significance Amyotrophic_lateral_sclerosis_16,_juvenile . 0.98742 HOM Link to ClinVar
402843 389913 Benign not_specified 0.26909 0.40096 HET Link to ClinVar
260123 253528 Benign not_specified 0.74608 0.70188 HET Link to ClinVar
260128 253532 Benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Inclusion_Body_Myopathy,_Dominant
not_provided		 0.74418 0.70108 HET Link to ClinVar
259478 253537 Benign not_specified 0.74589 0.70148 HET Link to ClinVar
366742 319080 Benign Fanconi_anemia . 0.1258 HET Link to ClinVar
366744 312648 Benign Fanconi_anemia . 0.20647 HET Link to ClinVar
366746 308268 Benign Fanconi_anemia . 0.1258 HET Link to ClinVar
366751 312668 Benign Hyperphosphatasia-intellectual_disability_syndrome 0.99496 0.98403 HOM Link to ClinVar
670827 664322 Benign not_provided . . HET Link to ClinVar
262093 253543 Benign Hyperphosphatasia-intellectual_disability_syndrome
not_specified
not_provided		 0.54403 0.47404 HET Link to ClinVar
670826 664331 Benign not_provided . . HET Link to ClinVar
262100 253544 Benign not_specified . 0.1262 HET Link to ClinVar
780046 711959 Benign not_provided . . HET Link to ClinVar
138922 142625 Benign not_specified 0.47592 0.48682 HET Link to ClinVar
138920 142623 Benign not_provided . 0.30451 HET Link to ClinVar
94123 100023 Benign not_specified . . HET Link to ClinVar
140484 150162 Benign not_provided . 0.48003 HOM Link to ClinVar
679869 664346 Benign not_provided . . HET Link to ClinVar
516643 502951 Benign not_specified 0.68747 0.71046 HET Link to ClinVar
366776 312693 Benign Acromesomelic_Dysplasia 0.23854 0.3135 HET Link to ClinVar
366787 312716 Benign Acromesomelic_Dysplasia 0.23146 0.3125 HET Link to ClinVar
366804 312726 Benign Sialuria
GNE_myopathy
Inclusion_Body_Myopathy,_Recessive		 . 0.56929 HET Link to ClinVar
366811 319172 Benign Sialuria
GNE_myopathy
Inclusion_Body_Myopathy,_Recessive		 . 0.13359 HET Link to ClinVar
366825 312748 Benign Sialuria
GNE_myopathy
Inclusion_Body_Myopathy,_Recessive		 . 0.30032 HET Link to ClinVar
681355 663808 Benign not_provided . . HET Link to ClinVar
681354 664336 Benign not_provided . . HOM Link to ClinVar
681770 664337 Benign not_provided . . HET Link to ClinVar
681839 663809 Benign not_provided . . HET Link to ClinVar
681838 664354 Benign not_provided . . HET Link to ClinVar
671400 663814 Benign not_provided . . HET Link to ClinVar
681753 664345 Benign not_provided . . HET Link to ClinVar
257526 253556 Benign not_specified
not_provided		 0.72753 0.65176 HOM Link to ClinVar
672297 664629 Benign not_provided . . HET Link to ClinVar
134998 138737 not_provided not_specified 0.86867 0.74201 HOM Link to ClinVar
204220 200625 Benign Primary_hyperoxaluria
Primary_hyperoxaluria,_type_II
not_specified		 0.97642 0.91953 HOM Link to ClinVar
204222 200633 Uncertain_significance Primary_hyperoxaluria,_type_II 0.89344 0.85204 HOM Link to ClinVar
21490 34342 Benign Primary_hyperoxaluria
Primary_hyperoxaluria,_type_II
not_specified		 0.89246 0.84924 HOM Link to ClinVar
136360 140063 Benign not_specified 0.95416 0.9367 HOM Link to ClinVar
136362 140065 Benign not_specified . 0.39497 HET Link to ClinVar
136365 140068 Benign not_specified 0.95393 0.9385 HOM Link to ClinVar
768301 706378 Benign not_provided . . HOM Link to ClinVar
129120 134566 Benign Friedreich_ataxia_1
not_specified
Cardiovascular_phenotype
not_provided		 0.99934 0.98482 HOM Link to ClinVar
196398 193559 Benign not_specified 0.92089 0.89417 HOM Link to ClinVar
44091 53259 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.81146 0.77217 HET Link to ClinVar
259554 253576 Benign not_specified 0.37042 0.35982 HET Link to ClinVar
367237 319047 Likely_benign Nonsyndromic_Hearing_Loss,_Dominant 0.5183 0.45667 HET Link to ClinVar
508095 503181 Benign not_specified 0.39492 0.3131 HOM Link to ClinVar
367245 313238 Benign Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.51218 HET Link to ClinVar
367250 308681 Benign Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.53954 HET Link to ClinVar
47874 57038 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.46095 0.51078 HET Link to ClinVar
562091 553260 Pathogenic Deafness,_autosomal_recessive_7 . . HET Link to ClinVar
47863 57027 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.09272 0.04812 HET Link to ClinVar
367300 319708 Benign Hypomagnesemia_1,_intestinal 0.10159 0.16873 HET Link to ClinVar
367301 308709 Benign Hypomagnesemia_1,_intestinal 0.21123 0.29493 HET Link to ClinVar
367314 319714 Benign Hypomagnesemia_1,_intestinal 0.23504 0.26837 HET Link to ClinVar
367337 319772 Likely_benign Choreoacanthocytosis . 0.08446 HET Link to ClinVar
367371 313352 Likely_benign Choreoacanthocytosis 0.09155 0.08387 HET Link to ClinVar
367399 319227 Benign Choreoacanthocytosis 0.10943 0.1248 HET Link to ClinVar
367402 319826 Benign/Likely_benign Choreoacanthocytosis
not_provided		 0.18191 0.16274 HET Link to ClinVar
367404 319827 Likely_benign Choreoacanthocytosis . . HET Link to ClinVar
367428 319242 Benign Choreoacanthocytosis
not_provided		 . 0.41514 HET Link to ClinVar
367437 308831 Likely_benign Choreoacanthocytosis . 0.16534 HET Link to ClinVar
367445 308846 Benign Choreoacanthocytosis . 0.57568 HET Link to ClinVar
367449 319255 Benign Choreoacanthocytosis . 0.2494 HET Link to ClinVar
517538 497120 Benign not_specified 0.41916 0.28375 HET Link to ClinVar
517539 497057 Benign not_specified 0.37164 0.28395 HET Link to ClinVar
367450 319878 Benign Phosphoserine_aminotransferase_deficiency 0.79009 0.76038 HET Link to ClinVar
367454 313452 Benign Phosphoserine_aminotransferase_deficiency 0.62197 0.4994 HET Link to ClinVar
403012 389874 Benign not_specified . 0.65316 HOM Link to ClinVar
403013 389828 Benign not_specified 0.12277 0.12081 HET Link to ClinVar
403016 389912 Benign not_specified 0.12257 0.12081 HET Link to ClinVar
683368 664439 Benign not_provided . . HOM Link to ClinVar
683351 664444 Benign not_provided . . HOM Link to ClinVar
367493 319315 Benign Brachydactyly
Robinow_syndrome,_autosomal_dominant_1		 . . HET Link to ClinVar
199097 196256 Benign Brachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified		 0.73136 0.75739 HET Link to ClinVar
159818 168799 Benign Brachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified		 0.71032 0.748 HET Link to ClinVar
159815 168802 Benign Brachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified		 0.42678 0.41534 HET Link to ClinVar
159821 168809 Benign Brachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified		 0.6318 0.64497 HOM Link to ClinVar
259431 253585 Benign not_specified 0.67524 0.623 HOM Link to ClinVar
159823 168811 Benign Brachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified		 0.23534 0.19169 HET Link to ClinVar
367550 319975 Benign/Likely_benign Neuropathy_hereditary_sensory_and_autonomic_type_1 . 0.01158 HET Link to ClinVar
678245 663918 Benign not_provided . . HET Link to ClinVar
670372 664457 Benign not_provided . . HET Link to ClinVar
678244 664458 Benign not_provided . . HET Link to ClinVar
670371 663925 Benign not_provided . . HET Link to ClinVar
678242 664462 Benign not_provided . . HET Link to ClinVar
678240 663929 Benign not_provided . . HET Link to ClinVar
678238 664697 Benign not_provided . . HET Link to ClinVar
256318 253586 Benign/Likely_benign Fructose-biphosphatase_deficiency
not_specified		 0.52444 0.48702 HOM Link to ClinVar
256326 253587 Benign Fructose-biphosphatase_deficiency
not_specified		 0.86373 0.90715 HOM Link to ClinVar
256324 253589 Benign/Likely_benign Fructose-biphosphatase_deficiency
not_specified		 0.52659 0.48323 HOM Link to ClinVar
256323 253590 Benign Fructose-biphosphatase_deficiency
not_specified		 0.95607 0.97644 HOM Link to ClinVar
256321 253592 Benign not_specified 0.4015 0.34425 HOM Link to ClinVar
367618 320065 Likely_benign Holoprosencephaly_sequence
Gorlin_syndrome		 . 0.21526 HET Link to ClinVar
41663 50102 Benign Holoprosencephaly_sequence
Gorlin_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 . 0.39677 HOM Link to ClinVar
255668 253618 Likely_benign not_specified . . HET Link to ClinVar
668604 664509 Benign not_provided . . HET Link to ClinVar
255510 253620 Benign not_specified 0.22662 0.1887 HOM Link to ClinVar
255509 253621 Benign not_specified 0.84798 0.86741 HOM Link to ClinVar
255508 253622 Benign not_specified . . HET Link to ClinVar
190206 187985 Benign Xeroderma_pigmentosum
not_specified		 . 0.64637 HET Link to ClinVar
95096 100996 Benign Bamforth_syndrome
not_specified		 0.80053 0.88279 HOM Link to ClinVar
95098 100998 Benign Bamforth_syndrome
not_specified		 0.68639 0.6861 HET Link to ClinVar
132156 18370 . . 0.16858 0.16114 HET Link to ClinVar
262847 253637 Benign not_specified . 0.8752 HOM Link to ClinVar
262851 253655 Benign not_specified 0.26053 0.1238 HET Link to ClinVar
262843 253656 Benign not_specified 0.69231 0.26597 HOM Link to ClinVar
162170 171883 not_provided not_provided . 0.30092 HET Link to ClinVar
364112 313819 Benign Loeys-Dietz_syndrome
Loeys-Dietz_syndrome_1
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.33187 HET Link to ClinVar
364155 320250 Benign Loeys-Dietz_syndrome
Loeys-Dietz_syndrome_1
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.32588 HET Link to ClinVar
364189 313875 Benign Loeys-Dietz_syndrome
Loeys-Dietz_syndrome_1
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.32987 HET Link to ClinVar
364220 310311 Benign Nephronophthisis
not_specified		 . 0.27875 HET Link to ClinVar
95594 101492 Benign Nephronophthisis
Infantile_nephronophthisis
not_specified
not_provided		 0.32244 0.21046 HET Link to ClinVar
95597 101495 Benign Nephronophthisis
Infantile_nephronophthisis
not_specified
not_provided		 . 0.40735 HET Link to ClinVar
260414 253246 Benign not_specified . 0.75799 HET Link to ClinVar
674703 663440 Benign not_provided . . HET Link to ClinVar
364267 310356 Benign Hypercholanemia . 0.73143 HET Link to ClinVar
364275 306252 Benign Hypercholanemia 0.78863 0.71406 HET Link to ClinVar
257518 253251 Benign not_specified
Hypercholanemia		 0.64611 0.5629 HET Link to ClinVar
364288 306261 Benign Hereditary_fructosuria . 0.4978 HET Link to ClinVar
364306 315824 Benign Hereditary_fructosuria . 0.44189 HET Link to ClinVar
364341 306320 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . 0.85763 HOM Link to ClinVar
364350 310442 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . . HET Link to ClinVar
364351 310443 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . 0.44109 HET Link to ClinVar
364361 315940 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . 0.44549 HET Link to ClinVar
364398 315817 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 0.69363 0.53834 HOM Link to ClinVar
364451 306387 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . 0.08207 HET Link to ClinVar
9506 24545 Benign Tangier_disease
Coronary_heart_disease_in_familial_hypercholesterolemia,_protection_against
Familial_High_Density_Lipoprotein_Deficiency		 0.32994 0.4397 HET Link to ClinVar
364460 315879 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . 0.3724 HET Link to ClinVar
364468 306401 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 0.17898 0.14177 HET Link to ClinVar
364470 316138 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . . HET Link to ClinVar
364481 316143 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . 0.36122 HET Link to ClinVar
369619 353848 Benign Tangier_disease
Familial_High_Density_Lipoprotein_Deficiency		 . 0.78714 HOM Link to ClinVar
364484 316150 Likely_benign Fukuyama_congenital_muscular_dystrophy
Dilated_Cardiomyopathy,_Recessive		 . 0.16693 HET Link to ClinVar
93522 99427 Benign/Likely_benign Fukuyama_congenital_muscular_dystrophy
Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4
Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Recessive		 0.24461 0.15815 HET Link to ClinVar
680195 663471 Benign not_provided . . HET Link to ClinVar
672695 663573 Benign not_provided . . HET Link to ClinVar
671112 662952 Benign not_provided . . HET Link to ClinVar
93510 99415 Benign/Likely_benign Fukuyama_congenital_muscular_dystrophy
Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4
Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Recessive
not_provided		 0.25185 0.17832 HET Link to ClinVar
283468 267705 Likely_benign not_specified . . HET Link to ClinVar
364524 315938 Uncertain_significance Fukuyama_congenital_muscular_dystrophy
Dilated_Cardiomyopathy,_Recessive		 . 0.10923 HET Link to ClinVar
364525 306441 Uncertain_significance Fukuyama_congenital_muscular_dystrophy
Dilated_Cardiomyopathy,_Recessive		 . 0.06769 HET Link to ClinVar
669660 663588 Benign not_provided . . HOM Link to ClinVar
364536 306458 Benign Familial_dysautonomia . 0.44728 HET Link to ClinVar
364545 316271 Likely_benign Familial_dysautonomia . 0.07508 HET Link to ClinVar
681916 663463 Benign not_provided . . HOM Link to ClinVar
681954 663481 Benign not_provided . . HET Link to ClinVar
673446 663589 Benign not_provided . . HET Link to ClinVar
681952 663467 Benign not_provided . . HET Link to ClinVar
681949 663482 Benign not_provided . . HET Link to ClinVar
681948 662964 Benign not_provided . . HET Link to ClinVar
681947 662967 Benign not_provided . . HET Link to ClinVar
681945 663596 Benign not_provided . . HOM Link to ClinVar
681892 663483 Benign not_provided . . HOM Link to ClinVar
681891 663469 Benign not_provided . . HOM Link to ClinVar
259113 253259 Benign/Likely_benign Familial_dysautonomia
not_specified
not_provided		 0.19878 0.24501 HET Link to ClinVar
681939 663485 Benign not_provided . . HET Link to ClinVar
681918 662987 Benign not_provided . . HET Link to ClinVar
259112 253260 Benign/Likely_benign Familial_dysautonomia
not_specified
not_provided		 . 0.24581 HET Link to ClinVar
673445 663484 Benign not_provided . . HET Link to ClinVar
681914 662994 Benign not_provided . . HET Link to ClinVar
683637 663487 Benign not_provided . . HOM Link to ClinVar
681912 663617 Benign not_provided . . HOM Link to ClinVar
670532 663525 Benign not_provided . . HOM Link to ClinVar
681867 663527 Benign not_provided . . HOM Link to ClinVar
681861 663029 Benign not_provided . . HOM Link to ClinVar
681856 663531 Benign not_provided . . HOM Link to ClinVar
259115 253264 Benign/Likely_benign Familial_dysautonomia
not_specified		 0.0959 0.08646 HET Link to ClinVar
681855 663034 Benign not_provided . . HOM Link to ClinVar
137583 141286 Benign/Likely_benign Familial_dysautonomia
not_specified
not_provided		 0.09356 0.07987 HET Link to ClinVar
681852 663507 Benign not_provided . . HOM Link to ClinVar
476298 458810 Benign not_provided . . HOM Link to ClinVar
671339 663691 Benign not_provided . . HOM Link to ClinVar
673467 663044 Benign not_provided . . HET Link to ClinVar
683224 663045 Benign not_provided . . HOM Link to ClinVar
259808 253267 Benign not_specified 0.05697 0.05711 HET Link to ClinVar
667461 663517 Benign not_provided . . HET Link to ClinVar
129635 135081 Benign not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 0.24156 0.17013 HET Link to ClinVar
684084 663693 Benign not_provided . . HET Link to ClinVar
259811 253270 Benign not_specified
not_provided		 . 0.06909 HET Link to ClinVar
683225 663697 Benign not_provided . . HOM Link to ClinVar
684078 663048 Benign not_provided . . HET Link to ClinVar
259813 253272 Benign not_specified . . HET Link to ClinVar
667462 663712 Benign not_provided . . HOM Link to ClinVar
667463 663717 Benign not_provided . . HOM Link to ClinVar
673483 663538 Benign not_provided . . HET Link to ClinVar
684079 663521 Benign not_provided . . HOM Link to ClinVar
259801 253275 Benign not_specified
not_provided		 0.94489 0.97005 HOM Link to ClinVar
259804 253278 Benign not_specified
not_provided		 0.48648 0.3766 HOM Link to ClinVar
129633 135079 Benign Pena-Shokeir_syndrome_type_I
Myasthenic_syndrome,_congenital,_9,_associated_with_acetylcholine_receptor_deficiency
not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 . 0.10683 HET Link to ClinVar
364618 306496 Benign Porphobilinogen_synthase_deficiency . 0.78055 HOM Link to ClinVar
364621 316070 Likely_benign Porphobilinogen_synthase_deficiency . 0.01198 HET Link to ClinVar
364632 306504 Benign Porphobilinogen_synthase_deficiency . 0.59764 HOM Link to ClinVar
364663 316096 Uncertain_significance Porphobilinogen_synthase_deficiency . . HET Link to ClinVar
678779 663054 Benign not_provided . . HOM Link to ClinVar
45672 54837 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.47856 0.40635 HOM Link to ClinVar
163045 174544 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified		 0.99796 0.99101 HOM Link to ClinVar
45663 54828 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.5311 0.48163 HOM Link to ClinVar
678778 663059 Benign not_provided . . HOM Link to ClinVar
671522 663523 Benign not_provided . . HOM Link to ClinVar
678777 663727 Benign not_provided . . HOM Link to ClinVar
45650 54815 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.79413 0.83007 HOM Link to ClinVar
45640 54805 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified		 0.99418 0.97724 HOM Link to ClinVar
137078 140781 Benign not_specified . 0.25539 HET Link to ClinVar
45644 54809 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.33393 0.25559 HET Link to ClinVar
364700 316505 Likely_benign Retinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.25539 HET Link to ClinVar
364704 316132 Likely_benign Retinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.27616 HET Link to ClinVar
364707 316135 Likely_benign Retinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.27636 HET Link to ClinVar
364711 316153 Likely_benign Retinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive		 . . HET Link to ClinVar
95495 101394 Benign/Likely_benign Sarcotubular_myopathy
Bardet-Biedl_syndrome
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.10947 0.10363 HET Link to ClinVar
364723 310785 Benign Bardet-Biedl_syndrome
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.94908 HOM Link to ClinVar
771880 700773 Benign not_provided . . HET Link to ClinVar
668863 663577 Benign not_provided . . HOM Link to ClinVar
136705 140408 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_3
not_specified
Primary_Microcephaly,_Recessive		 0.15039 0.23283 HET Link to ClinVar
158132 168738 Likely_benign not_specified 0.14891 0.21046 HET Link to ClinVar
158127 167980 Benign not_specified
not_provided		 0.87626 0.79573 HET Link to ClinVar
678304 663781 Benign not_provided . . HET Link to ClinVar
158171 168744 Likely_benign not_specified . 0.14697 HET Link to ClinVar
21657 34509 Benign Primary_autosomal_recessive_microcephaly_3
not_specified
Primary_Microcephaly,_Recessive		 0.87717 0.80112 HET Link to ClinVar
136707 140410 Benign/Likely_benign not_specified
Primary_Microcephaly,_Recessive		 . 0.11661 HET Link to ClinVar
678303 663551 Benign not_provided . . HOM Link to ClinVar
668860 663554 Benign not_provided . . HOM Link to ClinVar
670443 663578 Benign not_provided . . HET Link to ClinVar
678302 663082 Benign not_provided . . HET Link to ClinVar
95896 101792 Benign Primary_autosomal_recessive_microcephaly_3
not_specified
Primary_Microcephaly,_Recessive		 0.99214 0.98043 HOM Link to ClinVar
95895 101791 Benign Primary_autosomal_recessive_microcephaly_3
not_specified
Primary_Microcephaly,_Recessive		 0.98782 0.96546 HOM Link to ClinVar
668859 663084 Benign not_provided . . HET Link to ClinVar
403564 389868 Benign not_specified 0.68768 0.73203 HOM Link to ClinVar
402454 389792 Benign not_specified 0.45864 0.40475 HOM Link to ClinVar
402455 389839 Benign not_specified 0.45698 0.40575 HOM Link to ClinVar
403271 390573 Benign not_specified . . HOM Link to ClinVar
180703 178868 Benign Focal_segmental_glomerulosclerosis_9
not_provided		 0.00135 . HET Link to ClinVar
701815 687351 Benign not_provided . . HET Link to ClinVar
701816 687352 Benign not_provided . . HET Link to ClinVar
258622 253286 Benign Nail-patella_syndrome
not_specified		 0.34027 0.22764 HOM Link to ClinVar
364909 310869 Benign Nail-patella_syndrome . 0.21805 HET Link to ClinVar
364912 316399 Benign Nail-patella_syndrome . 0.20567 HET Link to ClinVar
364913 316653 Benign Nail-patella_syndrome . 0.23403 HET Link to ClinVar
364935 310880 Benign Nail-patella_syndrome . 0.41034 HET Link to ClinVar
364939 306743 Benign Nail-patella_syndrome . 0.21685 HET Link to ClinVar
364952 310893 Benign Nail-patella_syndrome . 0.49701 HET Link to ClinVar
364957 316709 Benign Nail-patella_syndrome . . HET Link to ClinVar
364961 316717 Benign Nail-patella_syndrome . 0.28734 HET Link to ClinVar
364964 316722 Benign Nail-patella_syndrome . 0.30152 HET Link to ClinVar
364967 316735 Benign Nail-patella_syndrome . 0.27915 HET Link to ClinVar
364968 316736 Benign Nail-patella_syndrome . 0.21546 HET Link to ClinVar
364979 310920 Benign Nail-patella_syndrome . 0.54074 HET Link to ClinVar
364982 310921 Benign Nail-patella_syndrome . 0.54812 HET Link to ClinVar
364983 316487 Benign Nail-patella_syndrome . 0.54832 HET Link to ClinVar
364987 316496 Benign Nail-patella_syndrome . 0.53235 HET Link to ClinVar
364992 316768 Benign Nail-patella_syndrome . 0.55112 HET Link to ClinVar
670536 663086 Benign not_provided . . HOM Link to ClinVar
683120 663090 Benign not_provided . . HOM Link to ClinVar
365009 306822 Benign Charcot-Marie-Tooth_disease_type_2P
Charcot-Marie-Tooth_disease,_type_2		 . 0.55751 HOM Link to ClinVar
670537 663582 Benign not_provided . . HOM Link to ClinVar
670538 663102 Benign not_provided . . HOM Link to ClinVar
683123 663557 Benign not_provided . . HOM Link to ClinVar
684245 663784 Benign not_provided . . HOM Link to ClinVar
670497 663794 Benign not_provided . . HOM Link to ClinVar
683118 663806 Benign not_provided . . HOM Link to ClinVar
670496 663811 Benign not_provided . . HOM Link to ClinVar
365020 310994 Benign Charcot-Marie-Tooth_disease_type_2P
Charcot-Marie-Tooth_disease,_type_2		 0.42325 0.35204 HOM Link to ClinVar
365021 306833 Benign Charcot-Marie-Tooth_disease_type_2P
Charcot-Marie-Tooth_disease,_type_2		 0.77762 0.72724 HOM Link to ClinVar
683125 663106 Benign not_provided . . HOM Link to ClinVar
684248 663813 Benign not_provided . . HOM Link to ClinVar
683127 663820 Benign not_provided . . HOM Link to ClinVar
683119 663821 Benign not_provided . . HOM Link to ClinVar
683129 663591 Benign not_provided . . HOM Link to ClinVar
365033 310996 Benign Charcot-Marie-Tooth_disease_type_2P
Charcot-Marie-Tooth_disease,_type_2		 . 0.72883 HOM Link to ClinVar
670143 663132 Benign not_provided . . HOM Link to ClinVar
670144 663138 Benign not_provided . . HOM Link to ClinVar
439396 433354 Benign not_specified 0.99945 0.9982 HOM Link to ClinVar
128921 134368 Benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1u
not_specified		 0.7873 0.68351 HOM Link to ClinVar
128920 134367 Benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1u
not_specified		 . 0.73103 HOM Link to ClinVar
679336 663618 Benign not_provided . . HOM Link to ClinVar
365118 306884 Benign Congenital_disorder_of_glycosylation
not_provided		 . 0.68391 HOM Link to ClinVar
365125 306897 Benign Congenital_disorder_of_glycosylation
not_provided		 . 0.68391 HOM Link to ClinVar
403029 389888 Benign not_specified . 0.47923 HET Link to ClinVar
679298 663636 Benign not_provided . . HET Link to ClinVar
679299 663620 Benign not_provided . . HOM Link to ClinVar
679313 663638 Benign not_provided . . HET Link to ClinVar
679300 663874 Benign not_provided . . HET Link to ClinVar
679301 663639 Benign not_provided . . HET Link to ClinVar
380777 370266 Benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.53255 0.45467 HET Link to ClinVar
679316 663151 Benign not_provided . . HET Link to ClinVar
679303 663625 Benign not_provided . . HET Link to ClinVar
679304 663881 Benign not_provided . . HET Link to ClinVar
679307 663664 Benign not_provided . . HET Link to ClinVar
679309 663887 Benign not_provided . . HET Link to ClinVar
128832 134280 Benign not_specified
not_provided		 . 0.13339 HET Link to ClinVar
683561 663678 Benign not_provided . . HOM Link to ClinVar
380011 372181 Benign not_specified 0.245 0.3778 HET Link to ClinVar
676201 663641 Benign not_provided . . HET Link to ClinVar
256859 253313 Benign not_specified . . HET Link to ClinVar
198109 195270 Benign Lethal_arthrogryposis_with_anterior_horn_cell_disease
not_specified
Lethal_congenital_contracture_syndrome		 0.26787 0.34744 HET Link to ClinVar
256856 253316 Benign not_specified . 0.26937 HET Link to ClinVar
256858 253318 Benign not_specified 0.26798 0.34705 HET Link to ClinVar
365136 317080 Benign Lethal_arthrogryposis_with_anterior_horn_cell_disease
Lethal_congenital_contracture_syndrome		 . 0.26597 HET Link to ClinVar
680786 663889 Benign not_provided . . HOM Link to ClinVar
670130 663680 Benign not_provided . . HET Link to ClinVar
680787 663682 Benign not_provided . . HET Link to ClinVar
670623 663894 Benign not_provided . . HET Link to ClinVar
160023 168756 Likely_benign not_specified . 0.95148 HOM Link to ClinVar
670131 663177 Benign not_provided . . HET Link to ClinVar
680788 663650 Benign not_provided . . HET Link to ClinVar
680789 663193 Benign not_provided . . HOM Link to ClinVar
680790 663690 Benign not_provided . . HOM Link to ClinVar
670132 663196 Benign not_provided . . HET Link to ClinVar
160001 168766 Likely_benign not_specified 0.99098 0.96905 HOM Link to ClinVar
160002 168767 Benign not_specified
not_provided		 0.79283 0.61921 HET Link to ClinVar
670575 663667 Benign not_provided . . HET Link to ClinVar
680791 663702 Benign not_provided . . HET Link to ClinVar
160009 168774 Benign Seizures
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided		 0.80638 0.64277 HET Link to ClinVar
670576 663718 Benign not_provided . . HET Link to ClinVar
160013 168778 Likely_benign not_specified 0.99113 0.96825 HOM Link to ClinVar
139297 143000 Benign Seizures
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided		 0.79132 0.61701 HET Link to ClinVar
675006 663732 Benign not_provided . . HOM Link to ClinVar
160018 168783 Benign not_specified
not_provided		 0.18663 0.30931 HET Link to ClinVar
160021 168786 Benign not_specified
not_provided		 0.79151 0.61142 HET Link to ClinVar
670577 663692 Benign not_provided . . HET Link to ClinVar
670133 663237 Benign not_provided . . HET Link to ClinVar
670134 663239 Benign not_provided . . HET Link to ClinVar
680792 663251 Benign not_provided . . HET Link to ClinVar
160025 168789 Likely_benign not_specified 0.97493 0.91933 HOM Link to ClinVar
680795 663734 Benign not_provided . . HOM Link to ClinVar
680796 663253 Benign not_provided . . HOM Link to ClinVar
516214 502578 Benign not_specified 0.78827 0.62141 HET Link to ClinVar
516213 502261 Benign not_specified 0.80456 0.60144 HET Link to ClinVar
516212 502581 Benign not_specified 0.82682 0.74002 HET Link to ClinVar
516203 502690 Benign Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly
not_specified		 0.9998 . HOM Link to ClinVar
403061 389851 Benign not_specified 0.69438 0.57109 HET Link to ClinVar
439873 433677 Benign Agammaglobulinemia_5,_autosomal_dominant 0.03668 0.03055 HET Link to ClinVar
403263 389857 Benign not_specified 0.34937 0.26178 HET Link to ClinVar
403264 389889 Benign not_specified 0.35673 0.27915 HET Link to ClinVar
403265 389875 Benign not_specified 0.15003 0.24441 HET Link to ClinVar
403266 389796 Benign not_specified 0.43128 0.45168 HOM Link to ClinVar
365216 307031 Likely_benign Dystonia_1 . 0.15675 HET Link to ClinVar
365225 316771 Likely_benign Dystonia_1 . 0.07867 HET Link to ClinVar
365229 316779 Likely_benign Dystonia_1 . 0.15875 HET Link to ClinVar
255134 253324 Benign/Likely_benign Dystonia_1
not_specified		 0.22747 0.22624 HET Link to ClinVar
365239 307052 Uncertain_significance Citrullinemia_type_I . . HET Link to ClinVar
683297 663720 Benign not_provided . . HOM Link to ClinVar
92370 98281 Benign Citrullinemia_type_I
not_specified		 0.85003 0.79233 HOM Link to ClinVar
802519 790846 Benign Citrullinemia_type_I . . HOM Link to ClinVar
683317 663936 Benign not_provided . . HET Link to ClinVar
254749 253332 Benign not_specified . . HOM Link to ClinVar
92376 98287 Benign/Likely_benign Citrullinemia_type_I
not_specified		 0.09416 0.07668 HET Link to ClinVar
291084 275321 Conflicting_interpretations_of_pathogenicity not_specified
not_provided		 0 0.00499 HET Link to ClinVar
435741 428927 Benign/Likely_benign not_specified . . HET Link to ClinVar
129474 134920 Benign/Likely_benign Cortical_malformations,_occipital
not_specified		 . 0.84824 HOM Link to ClinVar
129477 134923 Benign/Likely_benign Cortical_malformations,_occipital
not_specified		 0.45579 0.39836 HET Link to ClinVar
129448 134894 Likely_benign not_specified 0.07746 0.07488 HET Link to ClinVar
129449 134895 Benign/Likely_benign Cortical_malformations,_occipital
not_specified		 0.21179 0.15495 HET Link to ClinVar
682995 663254 Benign not_provided . . HET Link to ClinVar
684032 663740 Benign not_provided . . HET Link to ClinVar
129451 134897 Benign Cortical_malformations,_occipital
not_specified		 0.28405 0.25859 HET Link to ClinVar
129452 134898 Likely_benign not_specified 0.45924 0.47125 HET Link to ClinVar
129454 134900 Benign/Likely_benign Cortical_malformations,_occipital
not_specified		 0.44957 0.47983 HET Link to ClinVar
682996 663262 Benign not_provided . . HET Link to ClinVar
682997 663264 Benign not_provided . . HET Link to ClinVar
682998 663747 Benign not_provided . . HET Link to ClinVar
670957 663272 Benign not_provided . . HOM Link to ClinVar
129456 134902 Benign/Likely_benign Cortical_malformations,_occipital
not_specified		 . 0.78674 HOM Link to ClinVar
682999 663278 Benign not_provided . . HOM Link to ClinVar
684033 663951 Benign not_provided . . HOM Link to ClinVar
684035 663954 Benign not_provided . . HOM Link to ClinVar
684036 663728 Benign not_provided . . HOM Link to ClinVar
684039 663279 Benign not_provided . . HOM Link to ClinVar
684041 663751 Benign not_provided . . HOM Link to ClinVar
669392 663753 Benign not_provided . . HET Link to ClinVar
684043 663754 Benign not_provided . . HOM Link to ClinVar
683000 663955 Benign not_provided . . HET Link to ClinVar
684044 663731 Benign not_provided . . HET Link to ClinVar
683003 663738 Benign not_provided . . HET Link to ClinVar
129458 134904 Benign not_specified . 0.29293 HET Link to ClinVar
129459 134905 Benign not_specified 0.36943 0.29313 HET Link to ClinVar
129460 134906 Benign Cortical_malformations,_occipital
not_specified		 0.79312 0.69908 HOM Link to ClinVar
683006 663280 Benign not_provided . . HET Link to ClinVar
129464 134910 Benign not_specified 0.23594 0.16773 HET Link to ClinVar
129465 134911 Benign/Likely_benign Cortical_malformations,_occipital
not_specified		 0.28471 0.22205 HET Link to ClinVar
129466 134912 Benign not_specified 0.23092 0.16334 HET Link to ClinVar
129467 134913 Benign/Likely_benign Cortical_malformations,_occipital
not_specified		 0.40798 0.37121 HET Link to ClinVar
683007 663285 Benign not_provided . . HET Link to ClinVar
683933 663742 Benign not_provided . . HOM Link to ClinVar
667978 663286 Benign not_provided . . HOM Link to ClinVar
667979 663960 Benign not_provided . . HOM Link to ClinVar
683940 663758 Benign not_provided . . HOM Link to ClinVar
667980 663288 Benign not_provided . . HOM Link to ClinVar
260149 253336 Benign not_specified
not_provided		 0.92329 0.87101 HOM Link to ClinVar
667981 663761 Benign not_provided . . HOM Link to ClinVar
667982 663762 Benign not_provided . . HOM Link to ClinVar
227021 229676 Benign not_specified 0.92302 0.87061 HOM Link to ClinVar
260151 253338 Benign not_specified
not_provided		 . 0.87081 HOM Link to ClinVar
667983 663291 Benign not_provided . . HOM Link to ClinVar
683942 663745 Benign not_provided . . HOM Link to ClinVar
260152 253339 Benign not_specified
not_provided		 0.99313 0.98123 HOM Link to ClinVar
167519 177969 Benign not_specified 0.92308 0.87081 HOM Link to ClinVar
260139 253340 Benign not_specified
not_provided		 0.92311 0.87081 HOM Link to ClinVar
668002 663967 Benign not_provided . . HOM Link to ClinVar
668003 663294 Benign not_provided . . HOM Link to ClinVar
683944 663746 Benign not_provided . . HOM Link to ClinVar
668004 663970 Benign not_provided . . HOM Link to ClinVar
668005 663764 Benign not_provided . . HOM Link to ClinVar
167520 177970 Benign not_specified 0.92319 0.87081 HOM Link to ClinVar
669393 663766 Benign not_provided . . HOM Link to ClinVar
668006 663767 Benign not_provided . . HOM Link to ClinVar
670963 663299 Benign not_provided . . HOM Link to ClinVar
668009 663752 Benign not_provided . . HOM Link to ClinVar
260142 253343 Benign not_specified
not_provided		 0.90084 0.83147 HOM Link to ClinVar
668011 663787 Benign not_provided . . HOM Link to ClinVar
683948 663308 Benign not_provided . . HOM Link to ClinVar
668013 663795 Benign not_provided . . HOM Link to ClinVar
668014 663987 Benign not_provided . . HOM Link to ClinVar
95460 101359 Benign not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive		 0.89961 0.83167 HOM Link to ClinVar
668015 663768 Benign not_provided . . HOM Link to ClinVar
260136 253349 Benign not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive		 0.92445 0.87041 HOM Link to ClinVar
288427 272664 Benign not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.87081 HOM Link to ClinVar
365290 307106 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.87121 HOM Link to ClinVar
365291 311230 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.98123 HOM Link to ClinVar
365293 311243 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.86641 HOM Link to ClinVar
365295 317271 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.749 HOM Link to ClinVar
365305 307130 Likely_benign Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia		 . 0.09545 HET Link to ClinVar
365332 307148 Likely_benign Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia		 . . HET Link to ClinVar
95669 101566 Benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 0.39261 0.53874 HET Link to ClinVar
260516 253351 Benign not_specified 0.17288 0.25 HET Link to ClinVar
260514 253353 Benign/Likely_benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 0.09115 0.09465 HET Link to ClinVar
260513 253354 Benign not_specified 0.38841 0.53395 HET Link to ClinVar
95667 101564 Benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 0.28801 0.44169 HET Link to ClinVar
95666 101563 Benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia		 0.25283 0.374 HET Link to ClinVar
95665 101562 Benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 0.27579 0.44309 HET Link to ClinVar
95664 101561 Benign not_specified . 0.3748 HET Link to ClinVar
95663 101560 Benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 0.72516 0.55611 HET Link to ClinVar
95662 101559 Benign Amyotrophic_lateral_sclerosis_type_4
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 0.72508 0.55611 HET Link to ClinVar
95661 101558 Benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 . 0.64058 HET Link to ClinVar
193716 190879 Benign/Likely_benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 0.10723 0.11422 HET Link to ClinVar
95658 101555 Benign not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided		 0.7477 0.6266 HET Link to ClinVar
365414 316990 Benign Tuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II		 . 0.72584 HET Link to ClinVar
365476 317457 Benign Tuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II		 . 0.77336 HET Link to ClinVar
365477 317459 Benign Tuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II		 . 0.45068 HET Link to ClinVar
365479 311481 Benign Tuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II		 . 0.55212 HET Link to ClinVar
365480 317467 Benign Tuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II		 . 0.7482 HET Link to ClinVar
365504 317055 Benign Tuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II		 . . HET Link to ClinVar
41697 50136 Benign Tuberous_sclerosis_syndrome
not_provided		 . . HET Link to ClinVar
670691 663309 Benign not_provided . . HET Link to ClinVar
668726 663778 Benign not_provided . . HET Link to ClinVar
676422 663990 Benign not_provided . . HET Link to ClinVar
139377 143080 Benign Leigh_syndrome
not_specified		 0.53536 0.51198 HET Link to ClinVar
666612 654535 Benign not_specified . . HET Link to ClinVar
242806 20852 Benign Upshaw-Schulman_syndrome
not_specified		 0.45302 0.27157 HET Link to ClinVar
262450 253402 Benign Upshaw-Schulman_syndrome
not_specified		 . 0.23063 HET Link to ClinVar
680522 663780 Benign not_provided . . HET Link to ClinVar
680461 663992 Benign not_provided . . HET Link to ClinVar
680523 663995 Benign not_provided . . HET Link to ClinVar
680462 663997 Benign not_provided . . HET Link to ClinVar
680463 663786 Benign not_provided . . HET Link to ClinVar
680464 663812 Benign not_provided . . HOM Link to ClinVar
680465 663816 Benign not_provided . . HOM Link to ClinVar
680466 663817 Benign not_provided . . HET Link to ClinVar
680467 663999 Benign not_provided . . HOM Link to ClinVar
680519 663818 Benign not_provided . . HET Link to ClinVar
680468 664001 Benign not_provided . . HET Link to ClinVar
365578 307319 Benign Geleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided		 . . HOM Link to ClinVar
680470 663789 Benign not_provided . . HOM Link to ClinVar
680471 664007 Benign not_provided . . HET Link to ClinVar
365581 311619 Benign Geleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided		 0.81938 0.72404 HOM Link to ClinVar
365582 307323 Benign Geleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided		 0.81968 0.72464 HOM Link to ClinVar
365583 307324 Benign Geleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided		 . 0.72464 HOM Link to ClinVar
365585 311626 Benign Geleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided		 0.81809 0.72045 HOM Link to ClinVar
680472 664018 Benign not_provided . . HOM Link to ClinVar
518396 508836 Benign Geleophysic_dysplasia_1 . . HET Link to ClinVar
365614 311656 Benign Geleophysic_dysplasia . 0.46366 HET Link to ClinVar
217759 214409 Benign Orthostatic_hypotension_1 . 0.78734 HET Link to ClinVar
217758 214410 Benign Orthostatic_hypotension_1 0.45987 0.42991 HET Link to ClinVar
365637 307375 Likely_benign Orthostatic_hypotension_1 . 0.02796 HET Link to ClinVar
365653 317212 Benign Orthostatic_hypotension_1 . 0.1244 HET Link to ClinVar
365661 317218 Benign Orthostatic_hypotension_1 0.55707 0.62121 HET Link to ClinVar
365667 317226 Benign Orthostatic_hypotension_1 0.27337 0.24042 HET Link to ClinVar
768335 777727 Benign not_provided . . HET Link to ClinVar
365701 311702 Benign Ehlers-Danlos_syndrome,_type_7A
not_provided		 . 0.9994 HOM Link to ClinVar
683369 663804 Benign not_provided . . HET Link to ClinVar
672237 663826 Benign not_provided . . HET Link to ClinVar
672239 663370 Benign not_provided . . HOM Link to ClinVar
683371 663819 Benign not_provided . . HOM Link to ClinVar
672240 663829 Benign not_provided . . HOM Link to ClinVar
136922 140625 Benign Ehlers-Danlos_syndrome,_type_7A
not_specified
Cardiovascular_phenotype
not_provided		 . 0.34265 HOM Link to ClinVar
672241 663853 Benign not_provided . . HOM Link to ClinVar
683374 663834 Benign not_provided . . HOM Link to ClinVar
672242 663854 Benign not_provided . . HOM Link to ClinVar
255100 253405 Benign not_specified
not_provided		 . 0.40895 HOM Link to ClinVar
672243 663845 Benign not_provided . . HOM Link to ClinVar
255102 253406 Benign not_specified
not_provided		 0.45932 0.40815 HOM Link to ClinVar
255101 253407 Benign not_specified
not_provided		 0.45904 0.40875 HOM Link to ClinVar
672244 664051 Benign not_provided . . HOM Link to ClinVar
672245 663850 Benign not_provided . . HOM Link to ClinVar
255049 253410 Benign Ehlers-Danlos_syndrome,_classic_type
not_specified
not_provided		 . 0.41933 HOM Link to ClinVar
439524 433429 Benign Ehlers-Danlos_syndrome,_classic_type
not_provided		 . 0.70807 HOM Link to ClinVar
683357 663855 Benign not_provided . . HOM Link to ClinVar
678461 664110 Benign not_provided . . HET Link to ClinVar
672246 664115 Benign not_provided . . HET Link to ClinVar
673129 663891 Likely_benign not_provided . . HET Link to ClinVar
255061 253422 Benign not_specified
not_provided		 0.02732 0.03055 HET Link to ClinVar
670978 663893 Benign not_provided . . HET Link to ClinVar
670979 664119 Benign not_provided . . HET Link to ClinVar
673131 663897 Benign not_provided . . HET Link to ClinVar
678518 663418 Likely_benign not_provided . . HET Link to ClinVar
683367 663888 Benign not_provided . . HET Link to ClinVar
673132 663914 Benign not_provided . . HET Link to ClinVar
674554 664145 Likely_benign not_provided . . HET Link to ClinVar
669861 663916 Benign not_provided . . HET Link to ClinVar
136866 140569 Benign not_specified
not_provided		 0.40884 0.28794 HET Link to ClinVar
669630 663438 Benign not_provided . . HET Link to ClinVar
669899 663442 Likely_benign not_provided . . HET Link to ClinVar
255062 253423 Benign not_specified
not_provided		 0.13494 0.15296 HET Link to ClinVar
674557 664176 Benign not_provided . . HET Link to ClinVar
674560 663928 Likely_benign not_provided . . HET Link to ClinVar
683375 664183 Benign not_provided . . HET Link to ClinVar
255067 253428 Benign not_specified 0.08641 0.0609 HET Link to ClinVar
673905 663450 Likely_benign not_provided . . HET Link to ClinVar
672247 663948 Benign not_provided . . HOM Link to ClinVar
255069 253430 Benign not_specified
not_provided		 0.61135 0.69169 HET Link to ClinVar
671001 663965 Benign not_provided . . HET Link to ClinVar
672248 663454 Benign not_provided . . HET Link to ClinVar
672249 664185 Benign not_provided . . HET Link to ClinVar
672275 663904 Benign not_provided . . HET Link to ClinVar
669635 663985 Benign not_provided . . HET Link to ClinVar
673590 664194 Benign not_provided . . HET Link to ClinVar
669741 664002 Likely_benign not_provided . . HET Link to ClinVar
674562 663473 Likely_benign not_provided . . HET Link to ClinVar
674563 664009 Benign not_provided . . HET Link to ClinVar
683378 663910 Benign not_provided . . HET Link to ClinVar
674564 664015 Likely_benign not_provided . . HET Link to ClinVar
683381 664237 Benign not_provided . . HET Link to ClinVar
683384 664017 Benign not_provided . . HET Link to ClinVar
255078 253438 Benign not_specified 0.14376 0.2472 HET Link to ClinVar
255081 253442 Benign not_specified . 0.45288 HET Link to ClinVar
255082 253443 Benign not_specified 0.10189 0.10503 HET Link to ClinVar
136881 140584 Benign not_specified
not_provided		 0.1082 0.10523 HET Link to ClinVar
683385 664023 Benign not_provided . . HET Link to ClinVar
683386 664255 Benign not_provided . . HET Link to ClinVar
439526 433431 Benign Ehlers-Danlos_syndrome,_classic_type . 0.58227 HET Link to ClinVar
136900 140603 Benign Ehlers-Danlos_syndrome,_type_7A
not_specified
Cardiovascular_phenotype
not_provided		 . 0.40815 HET Link to ClinVar
683387 664266 Benign not_provided . . HET Link to ClinVar
683393 663949 Benign not_provided . . HET Link to ClinVar
255089 253450 Benign not_specified 0.56585 0.60943 HET Link to ClinVar
674275 663508 Benign not_provided . . HET Link to ClinVar
672278 664054 Benign not_provided . . HOM Link to ClinVar
255092 253454 Benign not_specified
not_provided		 0.7258 0.74601 HOM Link to ClinVar
672279 664058 Benign not_provided . . HOM Link to ClinVar
672281 664291 Benign not_provided . . HET Link to ClinVar
668951 664072 Benign not_provided . . HET Link to ClinVar
365741 311762 Benign Ehlers-Danlos_syndrome,_type_7A . 0.7514 HOM Link to ClinVar
365746 317325 Benign Ehlers-Danlos_syndrome,_type_7A . 0.34944 HOM Link to ClinVar
365760 307524 Benign Ehlers-Danlos_syndrome,_type_7A
Ehlers-Danlos_syndrome,_classic_type		 . 0.32528 HOM Link to ClinVar
365764 307541 Benign Ehlers-Danlos_syndrome,_type_7A . . HOM Link to ClinVar
365768 311778 Benign Ehlers-Danlos_syndrome,_type_7A . . HOM Link to ClinVar
365769 317776 Benign Ehlers-Danlos_syndrome,_type_7A . 0.60643 HOM Link to ClinVar
365791 307555 Benign Ehlers-Danlos_syndrome,_type_7A . 0.75739 HOM Link to ClinVar
365795 317385 Benign Ehlers-Danlos_syndrome,_type_7A . 0.57608 HOM Link to ClinVar
682078 664012 Benign not_provided . . HET Link to ClinVar
682095 664019 Benign not_provided . . HET Link to ClinVar
674495 664034 Likely_benign not_provided . . HET Link to ClinVar
682099 664039 Benign not_provided . . HET Link to ClinVar
682103 664103 Benign not_provided . . HET Link to ClinVar
261360 253461 Benign not_specified 0.02262 0.02236 HET Link to ClinVar
261361 253462 Benign not_specified 0.21758 0.20787 HET Link to ClinVar
674496 664104 Likely_benign not_provided . . HET Link to ClinVar
682105 664323 Benign not_provided . . HET Link to ClinVar
682121 664108 Benign not_provided . . HET Link to ClinVar
682123 664046 Benign not_provided . . HET Link to ClinVar
682126 664114 Benign not_provided . . HET Link to ClinVar
129353 134799 Benign Seizures
not_specified		 0.26797 0.35543 HET Link to ClinVar
194782 191945 Benign not_specified 0.71263 0.74421 HET Link to ClinVar
674497 664137 Likely_benign not_provided . . HET Link to ClinVar
682122 663576 Benign not_provided . . HET Link to ClinVar
682124 663581 Benign not_provided . . HET Link to ClinVar
682129 663607 Benign not_provided . . HET Link to ClinVar
674514 664154 Likely_benign not_provided . . HET Link to ClinVar
682136 664362 Benign not_provided . . HET Link to ClinVar
674515 664109 Likely_benign not_provided . . HET Link to ClinVar
671967 664161 Benign not_provided . . HET Link to ClinVar
671968 664112 Benign not_provided . . HET Link to ClinVar
682422 664163 Benign not_provided . . HET Link to ClinVar
682425 664365 Benign not_provided . . HET Link to ClinVar
682427 663610 Benign not_provided . . HET Link to ClinVar
682428 664169 Benign not_provided . . HET Link to ClinVar
129357 134803 Benign Seizures
not_specified
not_provided		 0.6687 0.65216 HET Link to ClinVar
365828 311847 Benign Familial_Candidiasis,_Recessive 0.3204 0.25419 HET Link to ClinVar
365857 307609 Benign not_specified
Familial_Candidiasis,_Recessive		 0.40223 0.36621 HET Link to ClinVar
365858 317914 Benign not_specified
Familial_Candidiasis,_Recessive		 0.40195 0.36661 HET Link to ClinVar
402489 389800 Benign not_specified 0.40881 0.36941 HET Link to ClinVar
402490 389882 Benign not_specified . 0.32788 HET Link to ClinVar
365868 311884 Benign Joubert_syndrome . 0.36582 HET Link to ClinVar
365873 317479 Benign Joubert_syndrome . 0.3776 HET Link to ClinVar
365875 311894 Benign Joubert_syndrome . 0.38279 HET Link to ClinVar
365877 317952 Likely_benign Joubert_syndrome . 0.14836 HET Link to ClinVar
129272 134718 Benign/Likely_benign Joubert_syndrome
not_specified
not_provided		 0.20473 0.17392 HET Link to ClinVar
261197 253468 Benign not_specified 0.0075 0.26717 HET Link to ClinVar
129266 134712 Benign Joubert_syndrome
not_specified
not_provided		 0.40043 0.3778 HET Link to ClinVar
675038 663631 Benign not_provided . . HET Link to ClinVar
129265 134711 Benign Joubert_syndrome
not_specified
not_provided		 0.4194 0.3784 HET Link to ClinVar
215526 212658 Benign/Likely_benign Joubert_syndrome
not_specified
not_provided		 . . HET Link to ClinVar
675037 664130 Benign not_provided . . HET Link to ClinVar
681966 663637 Benign not_provided . . HET Link to ClinVar
261203 253479 Benign Joubert_syndrome
not_specified
not_provided		 . . HOM Link to ClinVar
678142 664218 Benign not_provided . . HET Link to ClinVar
678564 664219 Benign not_provided . . HET Link to ClinVar
678563 664417 Benign not_provided . . HET Link to ClinVar
678562 664220 Benign not_provided . . HET Link to ClinVar
678559 664419 Benign not_provided . . HET Link to ClinVar
678557 664425 Benign not_provided . . HET Link to ClinVar
678016 664432 Benign not_provided . . HET Link to ClinVar
678556 664160 Benign not_provided . . HET Link to ClinVar
678141 664437 Benign not_provided . . HET Link to ClinVar
678084 664167 Benign not_provided . . HET Link to ClinVar
281108 265345 Benign Aortic_valve_disorder
not_specified
Cardiovascular_phenotype		 . 0.58546 HET Link to ClinVar
678554 663646 Benign not_provided . . HET Link to ClinVar
678140 664182 Benign not_provided . . HET Link to ClinVar
677898 663651 Benign not_provided . . HET Link to ClinVar
678133 663652 Benign not_provided . . HET Link to ClinVar
678549 664191 Benign not_provided . . HET Link to ClinVar
383780 372816 Benign not_specified 0.87041 0.88399 HOM Link to ClinVar
678547 664256 Benign not_provided . . HET Link to ClinVar
678543 663684 Benign not_provided . . HET Link to ClinVar
365901 317995 Benign Congenital_generalized_lipodystrophy . 0.33407 HOM Link to ClinVar
365903 318011 Uncertain_significance Congenital_generalized_lipodystrophy . 0.001 HET Link to ClinVar
365904 307661 Benign Congenital_generalized_lipodystrophy . 0.80332 HOM Link to ClinVar
365913 311915 Benign Congenital_generalized_lipodystrophy . 0.80052 HOM Link to ClinVar
129574 135020 Benign History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive
not_provided		 0.97588 0.90535 HOM Link to ClinVar
129573 135019 Benign History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive		 0.2838 0.17832 HET Link to ClinVar
129577 135023 Benign History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive
not_provided		 . 0.8099 HET Link to ClinVar
388019 370291 Benign/Likely_benign not_specified
not_provided		 0.00237 0.0002 HET Link to ClinVar
683402 664484 Benign not_provided . . HOM Link to ClinVar
129179 134625 Benign not_specified
not_provided		 0.93558 0.93351 HOM Link to ClinVar
681625 664281 Benign not_provided . . HOM Link to ClinVar
281214 265451 Benign Autosomal_recessive_hypophosphatemic_bone_disease
not_specified
not_provided		 0.44449 0.45567 HET Link to ClinVar
194277 191440 Benign not_specified 0.88308 0.94609 HOM Link to ClinVar
194276 191439 Benign not_specified
not_provided		 . 0.32907 HET Link to ClinVar
65724 76632 Benign Kleefstra_syndrome_1
History_of_neurodevelopmental_disorder
not_specified		 0.39696 0.46885 HET Link to ClinVar
96142 102036 Benign Kleefstra_syndrome_1
not_specified		 0.06224 0.13698 HET Link to ClinVar
802555 790882 Benign NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_NONEPILEPTIC_HYPERKINETIC_MOVEMENTS . . HET Link to ClinVar
771737 700932 Likely_benign not_provided . . HET Link to ClinVar
300213 321772 Likely_benign Interleukin_2_receptor,_alpha,_deficiency_of . 0.0599 HET Link to ClinVar
300224 322463 Benign Interleukin_2_receptor,_alpha,_deficiency_of . 0.35483 HOM Link to ClinVar
300234 322478 Likely_benign Interleukin_2_receptor,_alpha,_deficiency_of . 0.09026 HET Link to ClinVar
300256 321833 Benign Interleukin_2_receptor,_alpha,_deficiency_of 0.06014 0.0603 HET Link to ClinVar
300258 322504 Benign Interleukin_2_receptor,_alpha,_deficiency_of 0.36075 0.32029 HET Link to ClinVar
300259 321841 Benign Interleukin_2_receptor,_alpha,_deficiency_of
not_specified		 0.21261 0.17931 HET Link to ClinVar
301109 322770 Benign Barakat_syndrome . 0.49022 HOM Link to ClinVar
301133 322826 Uncertain_significance Barakat_syndrome . . HOM Link to ClinVar
301140 323466 Benign Barakat_syndrome . 0.86502 HOM Link to ClinVar
299207 314580 Benign Primary_open_angle_glaucoma
Amyotrophic_Lateral_Sclerosis,_Recessive		 . 0.17312 HET Link to ClinVar
96022 101916 Benign Primary_open_angle_glaucoma
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive		 . 0.17832 HET Link to ClinVar
197846 195007 Benign Primary_open_angle_glaucoma
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive		 0.81556 0.80391 HOM Link to ClinVar
802562 790945 Benign Primary_open_angle_glaucoma . . HOM Link to ClinVar
368895 353124 Benign Primary_open_angle_glaucoma
Amyotrophic_Lateral_Sclerosis,_Recessive		 . 0.17911 HET Link to ClinVar
299239 309744 Benign Phytanic_acid_storage_disease . . HET Link to ClinVar
299240 309747 Benign Phytanic_acid_storage_disease . 0.23642 HET Link to ClinVar
95349 101248 Benign Phytanic_acid_storage_disease
not_specified
not_provided		 0.23943 0.23902 HET Link to ClinVar
129891 135337 Benign Phytanic_acid_storage_disease
not_specified
not_provided		 0.99078 0.97244 HOM Link to ClinVar
7582 22621 Benign/Likely_benign Phytanic_acid_storage_disease
not_specified
not_provided		 0.15038 0.09764 HOM Link to ClinVar
299305 309805 Uncertain_significance Histiocytic_medullary_reticulosis . . HET Link to ClinVar
35999 44663 Benign/Likely_benign Severe_combined_immunodeficiency_disease
Severe_combined_immunodeficiency_with_sensitivity_to_ionizing_radiation
Histiocytic_medullary_reticulosis
not_specified		 0.09054 0.11681 HET Link to ClinVar
299373 321422 Benign Megaloblastic_anemia
not_provided		 0.71697 0.63598 HET Link to ClinVar
299388 321438 Likely_benign Megaloblastic_anemia 0.10753 0.11701 HET Link to ClinVar
299389 320825 Benign/Likely_benign Megaloblastic_anemia
Megaloblastic_anemia_due_to_inborn_errors_of_metabolism		 0.09112 0.0629 HET Link to ClinVar
439578 433470 Benign Megaloblastic_anemia_due_to_inborn_errors_of_metabolism . 0.77137 HOM Link to ClinVar
299409 321443 Benign Megaloblastic_anemia
not_provided		 0.99998 1 HOM Link to ClinVar
299437 309899 Benign Megaloblastic_anemia
not_provided		 0.99581 0.99341 HOM Link to ClinVar
299438 309900 Likely_benign Megaloblastic_anemia 0.13069 0.13459 HET Link to ClinVar
299444 314859 Benign Megaloblastic_anemia 0.20648 0.19689 HET Link to ClinVar
299453 320918 Benign Megaloblastic_anemia
not_specified		 0.46253 0.54133 HET Link to ClinVar
299462 309928 Benign Megaloblastic_anemia 0.2003 0.23043 HET Link to ClinVar
299479 309938 Benign Megaloblastic_anemia
not_provided		 0.77289 0.61342 HET Link to ClinVar
299480 314919 Benign Megaloblastic_anemia
not_provided		 0.77321 0.61382 HET Link to ClinVar
439576 433468 Benign Megaloblastic_anemia_due_to_inborn_errors_of_metabolism . 0.91454 HOM Link to ClinVar
299498 320977 Benign Megaloblastic_anemia 0.85679 0.91114 HOM Link to ClinVar
299499 320980 Benign/Likely_benign Megaloblastic_anemia
Megaloblastic_anemia_due_to_inborn_errors_of_metabolism		 0.02491 0.02995 HET Link to ClinVar
299527 321564 Benign Megaloblastic_anemia . 0.53434 HET Link to ClinVar
299533 309965 Benign Megaloblastic_anemia
not_provided		 0.21005 0.21486 HET Link to ClinVar
299538 321032 Benign Megaloblastic_anemia
Megaloblastic_anemia_due_to_inborn_errors_of_metabolism		 0.72783 0.79932 HOM Link to ClinVar
768350 701276 Benign not_provided . . HOM Link to ClinVar
674367 664690 Benign not_provided . . HET Link to ClinVar
368897 353126 Likely_benign Brugada_syndrome . 0.42812 HET Link to ClinVar
671828 664956 Benign not_provided . . HET Link to ClinVar
263262 253715 Benign Brugada_syndrome_4
not_specified		 . 0.22983 HET Link to ClinVar
673267 664093 Benign not_provided . . HOM Link to ClinVar
671830 664098 Benign not_provided . . HOM Link to ClinVar
683287 664673 Benign not_provided . . HET Link to ClinVar
683298 664710 Benign not_provided . . HET Link to ClinVar
683299 664712 Benign not_provided . . HET Link to ClinVar
136649 140352 Benign/Likely_benign Brugada_syndrome
not_specified
Cardiovascular_phenotype
not_provided		 . 0.09704 HET Link to ClinVar
215549 212763 Benign/Likely_benign Brugada_syndrome
Brugada_syndrome_4
not_specified		 0.78814 0.77436 HOM Link to ClinVar
299576 321622 Likely_benign Brugada_syndrome . . HET Link to ClinVar
299584 321638 Likely_benign Brugada_syndrome . . HET Link to ClinVar
299611 310034 Likely_benign Brugada_syndrome . . HOM Link to ClinVar
299616 321665 Likely_benign Brugada_syndrome . 0.0597 HET Link to ClinVar
299618 321097 Likely_benign Brugada_syndrome . 0.40555 HET Link to ClinVar
299620 321105 Likely_benign Brugada_syndrome . 0.76018 HOM Link to ClinVar
769362 701281 Benign not_provided . . HET Link to ClinVar
678109 664682 Benign not_provided . . HOM Link to ClinVar
671440 664714 Benign not_provided . . HET Link to ClinVar
683677 664122 Likely_benign not_provided . . HET Link to ClinVar
672914 664689 Benign not_provided . . HET Link to ClinVar
683676 664693 Benign not_provided . . HET Link to ClinVar
683673 664993 Benign not_provided . . HET Link to ClinVar
671174 664700 Benign not_provided . . HOM Link to ClinVar
672883 664995 Benign not_provided . . HOM Link to ClinVar
671324 664718 Benign not_provided . . HET Link to ClinVar
673849 665002 Benign not_provided . . HET Link to ClinVar
671172 665003 Benign not_provided . . HOM Link to ClinVar
45484 54650 Benign not_specified 0.38931 0.46905 HOM Link to ClinVar
671323 665022 Benign not_provided . . HET Link to ClinVar
45475 54641 Benign not_specified
Cardiovascular_phenotype		 . 0.03854 HET Link to ClinVar
45472 54638 Benign not_specified
Cardiovascular_phenotype		 0.06504 0.03874 HET Link to ClinVar
45471 54637 Benign not_specified
Cardiovascular_phenotype		 . 0.95248 HOM Link to ClinVar
683662 664726 Benign not_provided . . HOM Link to ClinVar
678539 664732 Benign not_provided . . HET Link to ClinVar
669638 664737 Benign not_provided . . HET Link to ClinVar
683671 665031 Benign not_provided . . HET Link to ClinVar
672881 664151 Benign not_provided . . HOM Link to ClinVar
671153 665050 Benign not_provided . . HET Link to ClinVar
45495 54661 Benign Primary_dilated_cardiomyopathy
Cardiomyopathy
not_specified		 . . HET Link to ClinVar
678610 665054 Benign not_provided . . HET Link to ClinVar
672880 664156 Benign not_provided . . HET Link to ClinVar
683660 664747 Benign not_provided . . HET Link to ClinVar
672879 664159 Benign not_provided . . HOM Link to ClinVar
683670 665064 Benign not_provided . . HET Link to ClinVar
683669 664752 Benign not_provided . . HET Link to ClinVar
674346 665068 Benign not_provided . . HET Link to ClinVar
164775 174922 not_provided not_specified . . HET Link to ClinVar
444138 437762 Benign Diabetes_mellitus_type_2 . 0.45028 HOM Link to ClinVar
444143 437764 Benign Diabetes_mellitus_type_2 . 0.21146 HET Link to ClinVar
130055 135501 Benign Permanent_neonatal_diabetes_mellitus
not_specified		 . 0.6244 HOM Link to ClinVar
299628 321688 Benign Permanent_neonatal_diabetes_mellitus 0.12766 0.21286 HET Link to ClinVar
444145 437766 Benign Diabetes_mellitus_type_2 . 0.69469 HOM Link to ClinVar
444144 437768 Benign Diabetes_mellitus_type_2 . 0.71825 HET Link to ClinVar
444141 437769 Benign Diabetes_mellitus_type_2 . 0.1875 HET Link to ClinVar
682722 664166 Likely_benign not_provided . . HET Link to ClinVar
45791 54956 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.05697 0.07408 HET Link to ClinVar
164604 174648 Benign not_specified . . HET Link to ClinVar
45817 54982 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.09145 HET Link to ClinVar
45823 54988 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.48497 0.39357 HET Link to ClinVar
45792 54957 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.67859 0.66274 HOM Link to ClinVar
260810 253719 Benign not_specified . . . Link to ClinVar
45798 54963 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.48439 0.39637 HET Link to ClinVar
45801 54966 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.08835 0.05731 HET Link to ClinVar
45804 54969 Benign/Likely_benign Deafness,_autosomal_recessive_30
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.5064 0.45527 HET Link to ClinVar
45807 54972 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.09708 0.08766 HET Link to ClinVar
45811 54976 Benign/Likely_benign Deafness,_autosomal_recessive_30
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.59868 0.60104 HET Link to ClinVar
260811 253720 Benign not_specified 0.08745 0.05751 HET Link to ClinVar
669538 664761 Benign not_provided . . HET Link to ClinVar
669539 665072 Benign not_provided . . HET Link to ClinVar
671582 664177 Benign not_provided . . HET Link to ClinVar
683440 665074 Benign not_provided . . HET Link to ClinVar
671583 664184 Benign not_provided . . HET Link to ClinVar
671584 665086 Benign not_provided . . HET Link to ClinVar
683442 664770 Benign not_provided . . HET Link to ClinVar
671585 664187 Benign not_provided . . HET Link to ClinVar
683449 664203 Benign not_provided . . HET Link to ClinVar
683450 665099 Benign not_provided . . HET Link to ClinVar
299704 315186 Likely_benign Coenzyme_Q10_deficiency,_primary . 0.08986 HET Link to ClinVar
260461 253730 Benign not_specified 0.84081 0.86522 HOM Link to ClinVar
260472 253739 Benign/Likely_benign Thrombocytopenia
not_specified		 0.89774 0.94469 HOM Link to ClinVar
299785 315284 Likely_benign Thrombocytopenia . 0.39717 HOM Link to ClinVar
262111 253744 Benign/Likely_benign Thrombocytopenia
not_specified		 . 0.85523 HOM Link to ClinVar
262126 253749 Benign/Likely_benign Thrombocytopenia
not_specified		 0.5924 0.50479 HOM Link to ClinVar
262127 253750 Benign not_specified 0.99791 0.99101 HOM Link to ClinVar
262115 253752 Benign/Likely_benign Thrombocytopenia
not_specified		 0.59108 0.50459 HOM Link to ClinVar
262122 253758 Benign/Likely_benign Thrombocytopenia
not_specified		 0.5971 0.51098 HOM Link to ClinVar
262110 253759 Benign/Likely_benign Thrombocytopenia
not_specified		 0.55878 0.39996 HOM Link to ClinVar
299806 310197 Likely_benign Thrombocytopenia . 0.50958 HOM Link to ClinVar
668606 665104 Benign not_provided . . HOM Link to ClinVar
684031 664789 Benign not_provided . . HOM Link to ClinVar
299879 315390 Benign Warburg_micro_syndrome 0.76505 0.73622 HOM Link to ClinVar
260994 253760 Benign not_specified 0.53635 0.53315 HET Link to ClinVar
718255 723906 Benign not_provided . . HET Link to ClinVar
671782 664228 Benign not_provided . . HET Link to ClinVar
684083 664771 Benign not_provided . . HET Link to ClinVar
683223 664796 Benign not_provided . . HOM Link to ClinVar
138281 141984 Benign Ataxia,_spastic,_4,_autosomal_recessive
not_specified		 0.26018 0.22564 HET Link to ClinVar
129624 135070 Benign Ataxia,_spastic,_4,_autosomal_recessive
not_specified
not_provided		 0.24999 0.21845 HET Link to ClinVar
683222 664243 Benign not_provided . . HOM Link to ClinVar
684266 664245 Benign not_provided . . HET Link to ClinVar
771884 701339 Benign not_provided . . HET Link to ClinVar
368898 353127 Benign Pheochromocytoma
Multiple_endocrine_neoplasia
Renal_hypodysplasia/aplasia_1
Hirschsprung_Disease,_Dominant		 . 0.73682 HET Link to ClinVar
378478 371670 Benign not_specified . 0.74521 HET Link to ClinVar
13952 28991 Benign,_risk_factor Hirschsprung_disease
Hirschsprung_disease_1
not_specified
not_provided		 . 0.75739 HET Link to ClinVar
695195 685271 Benign not_provided . . HET Link to ClinVar
677050 664781 Benign not_provided . . HET Link to ClinVar
167589 174942 Benign not_specified
not_provided		 0.73653 0.75359 HET Link to ClinVar
677051 664254 Benign not_provided . . HET Link to ClinVar
95995 101890 Benign Pheochromocytoma
Multiple_endocrine_neoplasia
Hereditary_cancer-predisposing_syndrome
Renal_hypodysplasia/aplasia_1
not_specified
Hirschsprung_Disease,_Dominant
not_provided		 0.70607 0.77516 HET Link to ClinVar
677053 665137 Benign not_provided . . HET Link to ClinVar
261396 253767 Benign not_specified 0.21445 0.12061 HET Link to ClinVar
167590 175112 Benign not_specified
not_provided		 0.74191 0.71246 HET Link to ClinVar
165056 174666 Benign not_specified 0.8031 0.75499 HET Link to ClinVar
299934 315412 Benign Pheochromocytoma
Multiple_endocrine_neoplasia
Renal_hypodysplasia/aplasia_1
Hirschsprung_Disease,_Dominant		 . 0.7472 HET Link to ClinVar
768356 701353 Benign not_provided . . HET Link to ClinVar
768357 701352 Benign not_provided . . HET Link to ClinVar
768359 701350 Benign not_provided . . HET Link to ClinVar
768360 701349 Benign not_provided . . HET Link to ClinVar
768361 701348 Benign not_provided . . HET Link to ClinVar
768362 701347 Benign not_provided . . HET Link to ClinVar
674697 664801 Benign not_provided . . HOM Link to ClinVar
300029 322302 Uncertain_significance Macular_degeneration
Cockayne_syndrome
Cerebrooculofacioskeletal_Syndrome		 . . HET Link to ClinVar
129020 134466 Benign Macular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome		 0.21784 0.17891 HOM Link to ClinVar
129017 134463 Benign Macular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome		 0.22033 0.1847 HOM Link to ClinVar
129016 134462 Benign Macular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome		 0.21856 0.18251 HOM Link to ClinVar
255163 253773 Benign not_specified 0.90711 0.88758 HOM Link to ClinVar
190153 188007 Benign Macular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome		 . 0.877 HOM Link to ClinVar
788361 712389 Benign not_provided . . HET Link to ClinVar
129014 134460 Benign Macular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome		 0.69464 0.59086 HOM Link to ClinVar
802572 790963 Benign Familial_infantile_myasthenia . . HOM Link to ClinVar
261325 253774 Benign not_specified 0.74457 0.4409 HOM Link to ClinVar
193433 190597 Benign not_specified
not_provided		 0.99218 0.97185 HOM Link to ClinVar
261337 253779 Benign/Likely_benign not_specified
not_provided		 0.98609 0.96625 HOM Link to ClinVar
668072 664295 Benign not_provided . . HOM Link to ClinVar
678934 664296 Benign not_provided . . HOM Link to ClinVar
199157 196316 Benign Familial_infantile_myasthenia
not_specified		 0.98962 0.96645 HOM Link to ClinVar
678351 665158 Benign not_provided . . HET Link to ClinVar
678352 664303 Benign not_provided . . HOM Link to ClinVar
668073 664848 Benign not_provided . . HOM Link to ClinVar
681297 665163 Benign not_provided . . HET Link to ClinVar
668074 664855 Benign not_provided . . HOM Link to ClinVar
128719 134168 Benign not_specified
not_provided		 . 0.79353 HET Link to ClinVar
678355 664304 Benign not_provided . . HET Link to ClinVar
679123 664859 Benign not_provided . . HET Link to ClinVar
680099 664865 Benign not_provided . . HET Link to ClinVar
220801 221980 Benign Aortic_aneurysm,_familial_thoracic_8
not_specified
Cardiovascular_phenotype		 0.01681 0.00859 HET Link to ClinVar
674711 664809 Benign not_provided . . HOM Link to ClinVar
674712 664811 Benign not_provided . . HOM Link to ClinVar
683715 664314 Benign not_provided . . HOM Link to ClinVar
683717 664335 Benign not_provided . . HOM Link to ClinVar
683720 664339 Benign not_provided . . HOM Link to ClinVar
381195 371297 Benign not_specified 0.34825 0.26917 HOM Link to ClinVar
674738 664341 Benign not_provided . . HOM Link to ClinVar
683740 664882 Benign not_provided . . HOM Link to ClinVar
678086 664356 Benign not_provided . . HOM Link to ClinVar
677989 664367 Benign not_provided . . HOM Link to ClinVar
674715 664840 Benign not_provided . . HOM Link to ClinVar
683723 664849 Benign not_provided . . HOM Link to ClinVar
674728 664852 Benign not_provided . . HOM Link to ClinVar
300109 321599 Likely_benign Mannose-binding_protein_deficiency . 0.33886 HET Link to ClinVar
300110 321600 Likely_benign Mannose-binding_protein_deficiency . 0.33906 HET Link to ClinVar
300113 315587 Likely_benign Mannose-binding_protein_deficiency . 0.33866 HET Link to ClinVar
300114 321603 Likely_benign Mannose-binding_protein_deficiency . 0.27316 HET Link to ClinVar
300124 322359 Likely_benign Mannose-binding_protein_deficiency . 0.45188 HET Link to ClinVar
300131 322365 Likely_benign Mannose-binding_protein_deficiency . 0.27696 HET Link to ClinVar
300148 315631 Benign/Likely_benign Mannose-binding_protein_deficiency
not_specified		 0.80414 0.73882 HOM Link to ClinVar
368900 353129 Likely_benign Mannose-binding_protein_deficiency . 0.28335 HET Link to ClinVar
227837 229796 Conflicting_interpretations_of_pathogenicity not_specified
not_provided		 0.0007 0.0006 HET Link to ClinVar
44035 53203 Benign not_specified 0.24887 0.29812 HET Link to ClinVar
670409 664381 Benign not_provided . . HET Link to ClinVar
678866 665210 Benign not_provided . . HOM Link to ClinVar
670408 664861 Benign not_provided . . HET Link to ClinVar
670392 664897 Benign not_provided . . HET Link to ClinVar
678867 664864 Benign not_provided . . HET Link to ClinVar
46476 55641 Benign not_specified 0.43309 0.4403 HET Link to ClinVar
678862 664904 Benign not_provided . . HOM Link to ClinVar
46468 55633 Benign not_specified
not_provided		 . . HET Link to ClinVar
678863 664916 Benign not_provided . . HOM Link to ClinVar
674390 664867 Benign not_provided . . HOM Link to ClinVar
674389 664869 Benign not_provided . . HOM Link to ClinVar
678861 664920 Benign not_provided . . HOM Link to ClinVar
678860 664872 Benign not_provided . . HOM Link to ClinVar
667956 664925 Benign not_provided . . HET Link to ClinVar
262149 253789 Benign not_specified
not_provided		 0.73626 0.73403 HOM Link to ClinVar
678859 664874 Benign not_provided . . HOM Link to ClinVar
678857 664876 Benign not_provided . . HOM Link to ClinVar
678856 664926 Benign not_provided . . HET Link to ClinVar
46456 55621 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.25623 0.3153 HET Link to ClinVar
678855 664397 Benign not_provided . . HET Link to ClinVar
262147 253791 Benign not_specified
not_provided		 0.63673 0.46026 HET Link to ClinVar
678854 664895 Benign not_provided . . HET Link to ClinVar
678853 665213 Benign not_provided . . HET Link to ClinVar
678849 664944 Benign not_provided . . HOM Link to ClinVar
262145 253792 Benign not_specified
not_provided		 . 0.60803 HOM Link to ClinVar
670389 665224 Benign not_provided . . HET Link to ClinVar
670388 664906 Benign not_provided . . HOM Link to ClinVar
667953 664917 Benign not_provided . . HOM Link to ClinVar
678842 664922 Benign not_provided . . HOM Link to ClinVar
670387 665225 Benign not_provided . . HOM Link to ClinVar
675473 664945 Benign not_provided . . HET Link to ClinVar
673903 664924 Benign not_provided . . HET Link to ClinVar
46511 55676 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.66044 0.60383 HET Link to ClinVar
667936 664931 Benign not_provided . . HET Link to ClinVar
678845 664935 Benign not_provided . . HET Link to ClinVar
678844 664954 Benign not_provided . . HET Link to ClinVar
678843 664937 Benign not_provided . . HET Link to ClinVar
667935 664958 Benign not_provided . . HET Link to ClinVar
667934 665228 Benign not_provided . . HOM Link to ClinVar
684177 656003 Benign not_provided . . HET Link to ClinVar
684179 664961 Benign not_provided . . HET Link to ClinVar
684187 664966 Benign not_provided . . HET Link to ClinVar
684189 664420 Benign not_provided . . HET Link to ClinVar
773235 701383 Likely_benign not_provided . . HET Link to ClinVar
802577 790968 Benign Mental_retardation,_autosomal_recessive_37 . . HET Link to ClinVar
128362 133811 Likely_benign not_specified 0.15961 0.15156 HET Link to ClinVar
285766 270003 Benign not_specified
not_provided		 0.99529 0.98602 HOM Link to ClinVar
680031 664947 Benign not_provided . . HOM Link to ClinVar
670506 664430 Benign not_provided . . HOM Link to ClinVar
460222 460152 Benign not_provided . . HOM Link to ClinVar
240864 240825 Benign Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 0.01183 0.00499 HET Link to ClinVar
516742 502840 Benign not_specified 0.38108 0.52995 HET Link to ClinVar
673049 664442 Benign not_provided . . HOM Link to ClinVar
683653 664998 Benign not_provided . . HOM Link to ClinVar
678619 664977 Benign not_provided . . HET Link to ClinVar
683654 665257 Benign not_provided . . HOM Link to ClinVar
683655 664986 Benign not_provided . . HOM Link to ClinVar
671143 664988 Benign not_provided . . HOM Link to ClinVar
678537 664456 Benign not_provided . . HOM Link to ClinVar
672832 665259 Benign not_provided . . HOM Link to ClinVar
31795 40455 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.62267 0.48263 HOM Link to ClinVar
31803 40463 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.15649 0.11661 HOM Link to ClinVar
31796 40456 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.18091 0.15775 HOM Link to ClinVar
683656 665007 Benign not_provided . . HOM Link to ClinVar
138419 142122 Benign Dilated_cardiomyopathy_1KK
not_specified		 0.99385 0.98243 HOM Link to ClinVar
669866 665028 Benign not_provided . . HOM Link to ClinVar
31799 40459 Benign not_specified
not_provided		 0.99558 0.98463 HOM Link to ClinVar
673051 665035 Benign not_provided . . HOM Link to ClinVar
672838 665042 Benign not_provided . . HOM Link to ClinVar
672839 665270 Benign not_provided . . HOM Link to ClinVar
671506 665278 Benign not_provided . . HOM Link to ClinVar
672869 664468 Benign not_provided . . HOM Link to ClinVar
671147 664470 Benign not_provided . . HOM Link to ClinVar
668993 665288 Benign not_provided . . HOM Link to ClinVar
671150 664481 Benign not_provided . . HOM Link to ClinVar
668995 665046 Benign not_provided . . HOM Link to ClinVar
672871 665047 Benign not_provided . . HOM Link to ClinVar
671151 665052 Benign not_provided . . HOM Link to ClinVar
678015 664490 Benign not_provided . . HOM Link to ClinVar
668996 665049 Benign not_provided . . HOM Link to ClinVar
683658 665067 Benign not_provided . . HOM Link to ClinVar
672875 665306 Benign not_provided . . HOM Link to ClinVar
672876 665070 Benign not_provided . . HOM Link to ClinVar
672877 664500 Benign not_provided . . HOM Link to ClinVar
671152 665056 Benign not_provided . . HOM Link to ClinVar
669011 665059 Benign not_provided . . HOM Link to ClinVar
669884 665310 Benign not_provided . . HOM Link to ClinVar
672878 665315 Benign not_provided . . HOM Link to ClinVar
669725 665088 Benign not_provided . . HOM Link to ClinVar
257342 253799 Benign not_specified
not_provided		 0.0424 0.02117 HOM Link to ClinVar
669723 665323 Benign not_provided . . HOM Link to ClinVar
669720 665093 Benign not_provided . . HOM Link to ClinVar
669719 665100 Benign not_provided . . HOM Link to ClinVar
669716 665089 Benign not_provided . . HOM Link to ClinVar
683742 665094 Benign not_provided . . HOM Link to ClinVar
669713 665103 Benign not_provided . . HOM Link to ClinVar
257346 253801 Benign not_specified
not_provided		 0.28675 0.36641 HET Link to ClinVar
257345 253802 Benign not_specified
not_provided		 0.13114 0.13918 HET Link to ClinVar
669881 665108 Benign not_provided . . HET Link to ClinVar
669863 664520 Benign not_provided . . HET Link to ClinVar
676250 665107 Benign not_provided . . HET Link to ClinVar
1719 16758 risk_factor Preeclampsia/eclampsia_4 0.62314 0.61242 HET Link to ClinVar
1720 16759 Conflicting_interpretations_of_pathogenicity Preeclampsia/eclampsia_4 0.21221 0.14417 HET Link to ClinVar
682816 665132 Benign not_provided . . HET Link to ClinVar
671932 664521 Benign not_provided . . HOM Link to ClinVar
682818 665114 Benign not_provided . . HOM Link to ClinVar
439787 433604 Benign not_specified 0.32376 0.28335 HET Link to ClinVar
255483 253803 Benign not_specified 0.78316 0.77875 HOM Link to ClinVar
129765 135211 Benign not_specified 0.58598 0.42991 HOM Link to ClinVar
95882 101779 Benign Holoprosencephaly_sequence
Heterotaxia
Visceral_heterotaxy_5,_autosomal
not_specified
not_provided		 0.61715 0.66574 HET Link to ClinVar
300324 315856 Benign Familial_hemophagocytic_lymphohistiocytosis . 0.57788 HET Link to ClinVar
300325 310615 Likely_benign Familial_hemophagocytic_lymphohistiocytosis . 0.09744 HET Link to ClinVar
257409 253807 Benign Familial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_2
not_specified		 0.63565 0.69589 HOM Link to ClinVar
257408 253808 Benign/Likely_benign Familial_hemophagocytic_lymphohistiocytosis
not_specified		 0.15821 0.11262 HET Link to ClinVar
691402 679096 Uncertain_significance Hirschsprung_disease . . HET Link to ClinVar
300345 322610 Benign BH4-Deficient_Hyperphenylalaninemia 0.77682 0.76538 HOM Link to ClinVar
300350 322615 Likely_benign BH4-Deficient_Hyperphenylalaninemia 1 0.124 HET Link to ClinVar
300354 322628 Benign BH4-Deficient_Hyperphenylalaninemia . 0.38099 HET Link to ClinVar
130342 135789 Benign Histiocytosis-lymphadenopathy_plus_syndrome
not_specified		 0.42466 0.46925 HET Link to ClinVar
130340 135787 Benign Histiocytosis-lymphadenopathy_plus_syndrome
not_specified		 0.86738 0.8143 HOM Link to ClinVar
130341 135788 Benign,_drug_response Histiocytosis-lymphadenopathy_plus_syndrome
not_specified
Gemcitabine_response		 0.63843 0.47983 HOM Link to ClinVar
300363 321945 Conflicting_interpretations_of_pathogenicity Histiocytosis-lymphadenopathy_plus_syndrome
not_provided		 . . HOM Link to ClinVar
130347 135794 Benign Histiocytosis-lymphadenopathy_plus_syndrome
not_specified		 0.82462 0.79273 HOM Link to ClinVar
130337 135784 Benign Histiocytosis-lymphadenopathy_plus_syndrome
not_specified		 0.83018 0.75379 HOM Link to ClinVar
300394 322651 Conflicting_interpretations_of_pathogenicity Retinitis_pigmentosa-deafness_syndrome
not_specified
CDH23-Related_Disorders
Nonsyndromic_Hearing_Loss,_Recessive		 . . HOM Link to ClinVar
680498 665120 Benign not_provided . . HOM Link to ClinVar
670320 664523 Benign not_provided . . HOM Link to ClinVar
678763 665125 Benign not_provided . . HOM Link to ClinVar
678765 665126 Benign not_provided . . HOM Link to ClinVar
45928 55093 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.67207 0.73463 HOM Link to ClinVar
45940 55105 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.6691 0.72524 HOM Link to ClinVar
261548 253816 Benign not_specified
not_provided		 . 0.73123 HOM Link to ClinVar
680499 665128 Benign not_provided . . HET Link to ClinVar
670322 665343 Benign not_provided . . HET Link to ClinVar
45872 55037 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.1998 0.1853 HOM Link to ClinVar
680500 664529 Benign not_provided . . HOM Link to ClinVar
678767 665130 Benign not_provided . . HOM Link to ClinVar
678768 665143 Benign not_provided . . HOM Link to ClinVar
261543 253817 Benign not_specified
not_provided		 0.9624 0.91514 HOM Link to ClinVar
678782 665371 Benign not_provided . . HET Link to ClinVar
678769 665145 Benign not_provided . . HOM Link to ClinVar
678770 665150 Benign not_provided . . HOM Link to ClinVar
760950 775660 Benign not_provided . . HOM Link to ClinVar
760964 775543 Benign not_provided . . HOM Link to ClinVar
678771 665140 Benign not_provided . . HOM Link to ClinVar
678772 665141 Benign not_provided . . HOM Link to ClinVar
45937 55102 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.81593 0.78215 HET Link to ClinVar
670326 665149 Benign not_provided . . HET Link to ClinVar
678773 665156 Benign not_provided . . HET Link to ClinVar
670327 665376 Benign not_provided . . HET Link to ClinVar
680505 664534 Benign not_provided . . HET Link to ClinVar
680506 665167 Benign not_provided . . HET Link to ClinVar
678783 665151 Benign not_provided . . HET Link to ClinVar
678784 664538 Benign not_provided . . HET Link to ClinVar
45955 55120 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.77525 0.72883 HET Link to ClinVar
802586 790978 Benign Retinitis_pigmentosa-deafness_syndrome . . HOM Link to ClinVar
802587 790979 Benign Retinitis_pigmentosa-deafness_syndrome . . HET Link to ClinVar
45960 55125 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
not_provided		 0.17889 0.13219 HET Link to ClinVar
680507 665195 Benign not_provided . . HOM Link to ClinVar
45997 55162 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.42914 0.34525 HET Link to ClinVar
46058 55223 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.11414 0.08087 HET Link to ClinVar
46071 55236 Benign/Likely_benign Galactosylceramide_beta-galactosidase_deficiency
Metachromatic_leukodystrophy
Combined_saposin_deficiency
Retinitis_pigmentosa-deafness_syndrome
not_specified
Atypical_Gaucher_Disease
Nonsyndromic_Hearing_Loss,_Recessive		 0.15087 0.07887 HET Link to ClinVar
300489 316044 Benign/Likely_benign Galactosylceramide_beta-galactosidase_deficiency
Metachromatic_leukodystrophy
Combined_saposin_deficiency
Retinitis_pigmentosa-deafness_syndrome
Atypical_Gaucher_Disease
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.78934 HET Link to ClinVar
680724 665157 Benign not_provided . . HET Link to ClinVar
680723 665390 Benign not_provided . . HET Link to ClinVar
680721 665400 Benign not_provided . . HET Link to ClinVar
680720 665160 Benign not_provided . . HET Link to ClinVar
680719 665405 Benign not_provided . . HET Link to ClinVar
300548 322169 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.5613 HOM Link to ClinVar
300581 310830 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
not_provided		 . 0.60963 HET Link to ClinVar
300605 322808 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.20208 HET Link to ClinVar
300620 322831 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.57648 HET Link to ClinVar
300622 322239 Likely_benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.08826 HET Link to ClinVar
300630 310887 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.57548 HET Link to ClinVar
300632 310890 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.59165 HET Link to ClinVar
300641 322245 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.24062 HET Link to ClinVar
300660 322890 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.61002 HET Link to ClinVar
300661 316200 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.24022 HET Link to ClinVar
300670 322267 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.24022 HET Link to ClinVar
300671 322892 Benign Skeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations		 . 0.59165 HET Link to ClinVar
667500 665202 Benign not_provided . . HOM Link to ClinVar
667499 665416 Benign not_provided . . HOM Link to ClinVar
559182 549971 Benign not_provided 0.57981 0.29792 HOM Link to ClinVar
667496 665220 Benign not_provided . . HOM Link to ClinVar
667495 665221 Benign not_provided . . HOM Link to ClinVar
300752 322380 Benign Quebec_platelet_disorder 0.45647 0.36102 HET Link to ClinVar
300765 322983 Benign Quebec_platelet_disorder . 0.37161 HET Link to ClinVar
300776 316340 Benign Quebec_platelet_disorder . 0.36661 HET Link to ClinVar
684057 664574 Benign not_provided . . HOM Link to ClinVar
671287 664587 Benign not_provided . . HET Link to ClinVar
669418 665185 Benign not_provided . . HET Link to ClinVar
498457 489881 Benign not_specified
not_provided		 . 0.78075 HET Link to ClinVar
678044 664592 Benign not_provided . . HET Link to ClinVar
678031 664605 Benign not_provided . . HET Link to ClinVar
671231 665436 Benign not_provided . . HET Link to ClinVar
45595 54761 Benign/Likely_benign Hirschsprung_disease
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant		 0.47612 0.32468 HET Link to ClinVar
672696 664611 Benign not_provided . . HET Link to ClinVar
672697 665218 Benign not_provided . . HET Link to ClinVar
45600 54766 Benign/Likely_benign Dilated_cardiomyopathy_1W
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant		 0.67339 0.623 HET Link to ClinVar
672698 665241 Benign not_provided . . HET Link to ClinVar
300808 316355 Likely_benign Dilated_Cardiomyopathy,_Dominant . . HET Link to ClinVar
300815 323069 Likely_benign Dilated_Cardiomyopathy,_Dominant . 0.6254 HET Link to ClinVar
300835 311044 Benign Hypermethioninemia 0.68122 0.63019 HET Link to ClinVar
802588 790980 Benign Hypermethioninemia_due_to_adenosine_kinase_deficiency . . HET Link to ClinVar
300847 316390 Benign Hypermethioninemia . 0.85004 HET Link to ClinVar
561579 552622 Benign not_provided . 0.44649 HET Link to ClinVar
561577 552623 Benign not_provided 0.27422 0.47384 HET Link to ClinVar
561580 552624 Benign not_provided . 0.1272 HET Link to ClinVar
561581 552625 Benign not_provided . 0.1885 HET Link to ClinVar
561578 552626 Benign not_provided . 0.47404 HET Link to ClinVar
300927 322540 Likely_benign Generalized_epilepsy_and_paroxysmal_dyskinesia . 0.71466 HOM Link to ClinVar
300933 316458 Likely_benign Generalized_epilepsy_and_paroxysmal_dyskinesia . 0.38059 HET Link to ClinVar
129328 134774 Benign/Likely_benign Generalized_epilepsy_and_paroxysmal_dyskinesia
not_specified
not_provided		 0.36048 0.40595 HET Link to ClinVar
786826 712480 Benign not_provided . . HET Link to ClinVar
227069 229922 Benign/Likely_benign not_specified
not_provided		 0.28665 0.34884 HOM Link to ClinVar
165197 175023 Benign not_specified 0.20002 0.22085 HET Link to ClinVar
165215 175027 Benign not_specified 0.6635 0.77037 HET Link to ClinVar
165218 175307 Benign not_specified 0.04539 0.02436 HET Link to ClinVar
165219 175029 Benign not_specified 0.47004 0.50459 HET Link to ClinVar
301153 322697 Benign Hepatic_methionine_adenosyltransferase_deficiency . . HET Link to ClinVar
301159 316692 Likely_benign Hepatic_methionine_adenosyltransferase_deficiency . 0.02895 HET Link to ClinVar
301165 316710 Benign Hepatic_methionine_adenosyltransferase_deficiency . 0.12001 HET Link to ClinVar
256104 253866 Benign Hepatic_methionine_adenosyltransferase_deficiency
not_specified		 0.51236 0.58686 HOM Link to ClinVar
256103 253867 Benign Hepatic_methionine_adenosyltransferase_deficiency
not_specified		 0.51253 0.58806 HOM Link to ClinVar
256107 253869 Benign Hepatic_methionine_adenosyltransferase_deficiency
not_specified		 0.74412 0.84046 HOM Link to ClinVar
256106 253870 Benign Hepatic_methionine_adenosyltransferase_deficiency
not_specified		 0.75044 0.84086 HOM Link to ClinVar
256105 253871 Benign Hepatic_methionine_adenosyltransferase_deficiency
not_specified		 0.7543 0.86342 HOM Link to ClinVar
256108 253872 Benign Hepatic_methionine_adenosyltransferase_deficiency
not_specified		 0.1467 0.1909 HOM Link to ClinVar
301199 311293 Benign Hepatic_methionine_adenosyltransferase_deficiency . . . Link to ClinVar
691406 679097 Uncertain_significance Hirschsprung_disease . . HET Link to ClinVar
691408 679099 Uncertain_significance Hirschsprung_disease . . HET Link to ClinVar
262215 253878 Benign not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided		 0.49472 0.51597 HET Link to ClinVar
262210 253884 Benign not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided		 0.35573 0.42911 HOM Link to ClinVar
194794 191957 Benign not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided		 . 0.57368 HOM Link to ClinVar
194795 191958 Benign not_specified
Cone-Rod_Dystrophy,_Recessive		 0.58671 0.6274 HOM Link to ClinVar
301278 316942 Benign Cone-Rod_Dystrophy,_Recessive . 0.57169 HOM Link to ClinVar
301281 316962 Likely_benign Cone-Rod_Dystrophy,_Recessive . 0.09804 HET Link to ClinVar
301312 311434 Benign Cone-Rod_Dystrophy,_Recessive . 0.55651 HOM Link to ClinVar
301314 323570 Benign Cone-Rod_Dystrophy,_Recessive . 0.25659 HOM Link to ClinVar
285754 269991 Benign not_specified
Retinitis_Pigmentosa,_Recessive		 0.53118 0.63359 HET Link to ClinVar
197174 194335 Benign not_specified
Retinitis_Pigmentosa,_Recessive		 . 0.50319 HET Link to ClinVar
301324 323008 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.11601 HET Link to ClinVar
301327 317026 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.11621 HET Link to ClinVar
683005 664616 Benign not_provided . . HOM Link to ClinVar
671123 664626 Benign not_provided . . HOM Link to ClinVar
138106 141809 Benign/Likely_benign Left_ventricular_noncompaction_cardiomyopathy
Myofibrillar_myopathy,_ZASP-related
not_specified
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant		 . 0.7522 HOM Link to ClinVar
672518 665227 Benign not_provided . . HOM Link to ClinVar
672014 665235 Benign not_provided . . HOM Link to ClinVar
257337 253888 Benign not_specified
not_provided		 0.68751 0.6242 HOM Link to ClinVar
683610 664648 Benign not_provided . . HOM Link to ClinVar
672033 665240 Benign not_provided . . HOM Link to ClinVar
43881 53050 Likely_benign not_specified . . HOM Link to ClinVar
301347 323644 Benign Juvenile_Polyposis . 0.34824 HET Link to ClinVar
41782 50221 Benign Hereditary_cancer-predisposing_syndrome
not_specified
Juvenile_Polyposis
not_provided		 0.35582 0.4998 HET Link to ClinVar
259286 253896 Benign Hereditary_cancer-predisposing_syndrome
not_specified
Juvenile_Polyposis		 0.35376 0.49661 HET Link to ClinVar
435339 429134 Likely_benign not_specified . . HET Link to ClinVar
129164 134610 Benign/Likely_benign Hyperinsulinism-hyperammonemia_syndrome
not_specified
Hyperinsulinism,_Dominant		 0.12206 0.16773 HET Link to ClinVar
810888 799618 Benign not_specified . . HET Link to ClinVar
440217 433880 Benign not_specified . 1 HOM Link to ClinVar
440219 433072 Benign not_specified . 0.41793 HET Link to ClinVar
92810 98717 Benign PTEN_hamartoma_tumor_syndrome
not_specified		 0.36991 0.43251 HET Link to ClinVar
301463 323162 Benign PTEN_hamartoma_tumor_syndrome . 0.3734 HET Link to ClinVar
674576 665309 Benign not_provided . . HET Link to ClinVar
680518 665553 Benign not_provided . . HET Link to ClinVar
674574 665311 Benign not_provided . . HET Link to ClinVar
680517 665314 Benign not_provided . . HET Link to ClinVar
254734 253905 Benign Autoimmune_lymphoproliferative_syndrome
not_specified		 0.75613 0.77536 HOM Link to ClinVar
684275 665316 Benign not_provided . . HOM Link to ClinVar
672000 665559 Benign not_provided . . HOM Link to ClinVar
255611 253907 Benign not_specified
not_provided		 0.39928 0.45427 HOM Link to ClinVar
672051 665317 Benign not_provided . . HOM Link to ClinVar
255610 253908 Benign not_specified
Wolman_disease
not_provided		 . 0.31889 HOM Link to ClinVar
684273 665329 Benign not_provided . . HOM Link to ClinVar
684269 665330 Benign not_provided . . HOM Link to ClinVar
195049 192211 Benign Lysosomal_acid_lipase_deficiency
not_specified
Wolman_disease
not_provided		 0.31632 0.28614 HOM Link to ClinVar
684268 665561 Benign not_provided . . HOM Link to ClinVar
301603 323274 Likely_benign Dilated_Cardiomyopathy,_Dominant . 0.35423 HET Link to ClinVar
683101 664729 Benign not_provided . . HET Link to ClinVar
301613 323878 Benign/Likely_benign Dilated_Cardiomyopathy,_Dominant
not_provided		 . 0.66234 HET Link to ClinVar
259411 253910 Benign not_specified 0.0633 0.15495 HET Link to ClinVar
259408 253911 Benign not_specified 0.08508 0.17812 HET Link to ClinVar
211273 207803 Benign not_specified
not_provided		 0.00466 0.0024 HET Link to ClinVar
778469 701479 Benign not_provided . . HET Link to ClinVar
95346 101245 Benign/Likely_benign Achromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive		 . 0.16434 HET Link to ClinVar
259938 253917 Benign Achromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive		 0.34962 0.39577 HET Link to ClinVar
259939 253918 Benign not_specified 0.35157 0.39617 HET Link to ClinVar
259940 253920 Benign Achromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive		 0.73967 0.72883 HET Link to ClinVar
259942 253921 Benign/Likely_benign Achromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive		 . 0.23522 HET Link to ClinVar
259943 253922 Benign Achromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive		 0.46045 0.41334 HET Link to ClinVar
683030 665569 Benign not_provided . . HOM Link to ClinVar
684055 665347 Benign not_provided . . HOM Link to ClinVar
683031 665570 Benign not_provided . . HOM Link to ClinVar
301662 311731 Likely_benign Familial_temporal_lobe_epilepsy_1 . 0.00519 HET Link to ClinVar
301666 323939 Benign Nephrotic_syndrome . 0.55252 HET Link to ClinVar
301676 323351 Benign Nephrotic_syndrome . 0.36701 HET Link to ClinVar
260733 253928 Benign Nephrotic_syndrome
Nephrotic_syndrome,_type_3
not_specified
not_provided		 0.3197 0.46046 HET Link to ClinVar
260734 253929 Benign Nephrotic_syndrome
Nephrotic_syndrome,_type_3
not_specified
not_provided		 0.28604 0.3782 HET Link to ClinVar
260712 253931 Benign Nephrotic_syndrome
Nephrotic_syndrome,_type_3
not_specified
not_provided		 . 0.20108 HET Link to ClinVar
260722 253940 Benign Nephrotic_syndrome
Nephrotic_syndrome,_type_3
not_specified		 0.34313 0.23023 HET Link to ClinVar
260729 253946 Benign Nephrotic_syndrome
not_specified		 0.14555 0.08706 HET Link to ClinVar
225947 227769 drug_response warfarin_response_-_Dosage . 0.24541 HET Link to ClinVar
666243 622287 . . 0.18627 0.22844 HET Link to ClinVar
16897 31936 drug_response Mephenytoin,_poor_metabolism_of
Proguanil,_poor_metabolism_of
Clopidogrel_response
not_specified
amitriptyline_response_-_Efficacy
citalopram_response_-_Efficacy
clomipramine_response_-_Efficacy
clopidogrel_response_-_Efficacy,_Toxicity/ADR
not_provided		 0.18563 0.22145 HET Link to ClinVar
301746 324029 Benign Cutis_laxa,_recessive . 0.20048 HET Link to ClinVar
301749 324059 Benign Cutis_laxa,_recessive . 0.20008 HET Link to ClinVar
301753 324060 Benign Cutis_laxa,_recessive . 0.29792 HET Link to ClinVar
678446 664731 Benign not_provided . . HET Link to ClinVar
258825 253949 Benign Cutis_laxa-corneal_clouding-oligophrenia_syndrome
Cutis_laxa,_recessive
not_specified		 0.41083 0.27955 HET Link to ClinVar
683044 665352 Benign not_provided . . HOM Link to ClinVar
678444 665341 Benign not_provided . . HET Link to ClinVar
683043 665576 Benign not_provided . . HET Link to ClinVar
683038 665588 Benign not_provided . . HET Link to ClinVar
678443 665593 Benign not_provided . . HET Link to ClinVar
683037 665606 Benign not_provided . . HOM Link to ClinVar
683818 664744 Benign not_provided . . HET Link to ClinVar
683036 665355 Benign not_provided . . HOM Link to ClinVar
258826 253953 Benign not_specified
not_provided		 0.68616 0.64257 HOM Link to ClinVar
682757 665616 Benign not_provided . . HET Link to ClinVar
670229 665618 Benign not_provided . . HET Link to ClinVar
674960 665375 Benign not_provided . . HET Link to ClinVar
670228 665628 Benign not_provided . . HET Link to ClinVar
674959 664757 Benign not_provided . . HET Link to ClinVar
130577 136023 Benign not_specified 0.3544 0.42472 HET Link to ClinVar
260669 253956 Benign not_specified 0.16291 0.19529 HET Link to ClinVar
402427 390501 Benign not_specified . 0.46126 HOM Link to ClinVar
204259 200664 Uncertain_significance Primary_hyperoxaluria,_type_III 0.08388 0.07268 HET Link to ClinVar
301827 323498 Benign Spastic_paraplegia,_autosomal_dominant
not_provided		 0.53042 0.4369 HOM Link to ClinVar
130787 136233 Benign not_specified
Spastic_paraplegia,_autosomal_dominant
not_provided		 0.73238 0.69649 HOM Link to ClinVar
301841 317478 Benign Spastic_paraplegia,_autosomal_dominant 0.73046 0.67971 HOM Link to ClinVar
301846 324172 Benign Spastic_paraplegia,_autosomal_dominant . 0.74201 HOM Link to ClinVar
301847 317487 Benign Spastic_paraplegia,_autosomal_dominant . 0.73423 HOM Link to ClinVar
301850 311862 Benign Spastic_paraplegia,_autosomal_dominant . 0.67891 HOM Link to ClinVar
298309 317492 Uncertain_significance Hermansky-Pudlak_syndrome . . HET Link to ClinVar
298311 317495 Benign Hermansky-Pudlak_syndrome . 0.43091 HET Link to ClinVar
298314 323522 Benign Hermansky-Pudlak_syndrome . 0.57228 HET Link to ClinVar
298315 323544 Benign Hermansky-Pudlak_syndrome . 0.57228 HET Link to ClinVar
298322 311898 Benign Hermansky-Pudlak_syndrome . 0.59045 HET Link to ClinVar
298329 317497 Benign Hermansky-Pudlak_syndrome . 0.46146 HET Link to ClinVar
298332 311903 Benign Hermansky-Pudlak_syndrome . 0.53894 HET Link to ClinVar
298333 317527 Benign Hermansky-Pudlak_syndrome . 0.52636 HET Link to ClinVar
167184 175332 Benign Hermansky-Pudlak_syndrome
not_specified		 0.26959 0.25759 HET Link to ClinVar
255500 253962 Benign/Likely_benign not_specified
not_provided		 . . HET Link to ClinVar
163666 175056 Benign/Likely_benign Hermansky-Pudlak_syndrome
not_specified		 0.06335 0.0639 HET Link to ClinVar
802626 791020 Benign Urofacial_syndrome_1 . . HET Link to ClinVar
713620 730720 Benign not_provided . . HET Link to ClinVar
298375 323571 Benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . 0.82628 HET Link to ClinVar
298377 311921 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . 0.10643 HET Link to ClinVar
298385 317617 Benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . . HET Link to ClinVar
298387 311927 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . 0.1264 HET Link to ClinVar
128836 134284 Benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided		 0.86101 0.82708 HET Link to ClinVar
683434 664772 Benign not_provided . . HET Link to ClinVar
298432 311989 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . 0.53874 HET Link to ClinVar
298434 317652 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency . 0.54014 HET Link to ClinVar
298437 323615 Benign/Likely_benign Dubin-Johnson_syndrome
not_specified		 0.16868 0.13498 HET Link to ClinVar
802627 791021 Benign Dubin-Johnson_syndrome . . HOM Link to ClinVar
196101 193262 Benign Dubin-Johnson_syndrome
not_specified		 . 0.28814 HET Link to ClinVar
94387 100287 Benign Renal_coloboma_syndrome
not_specified		 . 0.84665 HET Link to ClinVar
136593 140296 Benign Mitochondrial_DNA_depletion_syndrome
not_specified
Autosomal_recessive_cerebellar_ataxia
Ataxia_Neuropathy_Spectrum_Disorders
Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions		 . 0.41214 HET Link to ClinVar
683418 664765 Benign not_provided . . HET Link to ClinVar
298513 309222 Benign Mitochondrial_DNA_depletion_syndrome
Autosomal_recessive_cerebellar_ataxia
Ataxia_Neuropathy_Spectrum_Disorders
Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions		 . 0.05751 HET Link to ClinVar
44129 53297 Benign not_specified
not_provided		 0.81221 0.77296 HOM Link to ClinVar
44126 53294 Benign not_specified
not_provided		 . . HET Link to ClinVar
44124 53292 Benign not_specified
not_provided		 0.81087 0.77616 HOM Link to ClinVar
683855 663984 Benign not_provided . . HOM Link to ClinVar
672460 664489 Benign not_provided . . HET Link to ClinVar
672433 663986 Benign not_provided . . HET Link to ClinVar
683852 664493 Benign not_provided . . HOM Link to ClinVar
667958 664540 Benign not_provided . . HET Link to ClinVar
683842 663989 Benign not_provided . . HET Link to ClinVar
682679 663991 Benign not_provided . . HET Link to ClinVar
682678 664544 Benign not_provided . . HET Link to ClinVar
682677 664785 Benign not_provided . . HET Link to ClinVar
683837 664494 Benign not_provided . . HET Link to ClinVar
667957 664793 Benign not_provided . . HET Link to ClinVar
46211 55376 Benign not_specified
not_provided		 0.5777 0.59605 HET Link to ClinVar
193449 190613 Benign/Likely_benign Split-hand/foot_malformation
not_specified		 0.22882 0.09525 HOM Link to ClinVar
196404 193565 Benign not_specified
not_provided		 0.64697 0.66414 HOM Link to ClinVar
403232 389832 Benign not_specified 0.96458 0.92213 HOM Link to ClinVar
403233 389920 Benign not_specified 0.9971 0.98682 HOM Link to ClinVar
403234 389836 Benign not_specified 0.99677 0.98682 HOM Link to ClinVar
677127 664497 Benign not_provided . . HET Link to ClinVar
260689 253668 Benign not_specified
not_provided		 0.48567 0.39617 HET Link to ClinVar
677128 664499 Benign not_provided . . HET Link to ClinVar
677129 664547 Benign not_provided . . HET Link to ClinVar
677130 664507 Benign not_provided . . HET Link to ClinVar
677131 664511 Benign not_provided . . HET Link to ClinVar
677132 664513 Benign not_provided . . HET Link to ClinVar
677133 663998 Benign not_provided . . HET Link to ClinVar
260688 253670 Benign not_specified
not_provided		 0.66275 0.71965 HET Link to ClinVar
298587 309286 Likely_benign Medulloblastoma . 0.19449 HET Link to ClinVar
298607 319883 Likely_benign Medulloblastoma . 0.1234 HET Link to ClinVar
137063 140766 Benign not_specified
not_provided		 0.22378 0.13878 HET Link to ClinVar
761000 775608 Benign not_provided . . HET Link to ClinVar
298624 314017 Benign Congenital_adrenal_hyperplasia
not_provided		 . 0.41034 HET Link to ClinVar
298625 314018 Benign Congenital_adrenal_hyperplasia
not_provided		 0.42478 0.44249 HET Link to ClinVar
298630 314022 Benign Congenital_adrenal_hyperplasia . 0.41054 HET Link to ClinVar
298645 319953 Benign Renal_Hypomagnesemia,_Dominant 0.41992 0.43251 HET Link to ClinVar
298651 314056 Benign Renal_Hypomagnesemia,_Dominant 0.11458 0.07708 HET Link to ClinVar
298665 320488 Benign Renal_Hypomagnesemia,_Dominant . 0.26278 HET Link to ClinVar
380852 371502 Benign not_specified 0.4171 0.42213 HET Link to ClinVar
667762 664522 Benign not_provided . . HET Link to ClinVar
667744 664527 Benign not_provided . . HET Link to ClinVar
667742 664537 Benign not_provided . . HET Link to ClinVar
667740 664004 Benign not_provided . . HET Link to ClinVar
667734 664548 Benign not_provided . . HET Link to ClinVar
667739 664812 Benign not_provided . . HET Link to ClinVar
667737 664005 Benign not_provided . . HET Link to ClinVar
667735 664818 Benign not_provided . . HET Link to ClinVar
667538 664553 Benign not_provided . . HET Link to ClinVar
667537 664556 Benign not_provided . . HET Link to ClinVar
380851 371505 Benign not_specified 0.11381 0.07668 HET Link to ClinVar
380850 371524 Benign not_specified . 0.81969 HET Link to ClinVar
768386 701154 Benign not_provided . . HET Link to ClinVar
298673 319982 Benign Epidermolysis_bullosa,_junctional . 0.1885 HET Link to ClinVar
298676 320507 Benign Epidermolysis_bullosa,_junctional . 0.24661 HET Link to ClinVar
298678 309383 Benign Epidermolysis_bullosa,_junctional . 0.22883 HET Link to ClinVar
256274 253672 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.78044 0.69149 HOM Link to ClinVar
256273 253673 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.99643 0.98602 HOM Link to ClinVar
256272 253674 Benign not_specified 0.77809 0.68291 HOM Link to ClinVar
256271 253675 Benign Epidermolysis_bullosa,_junctional
not_specified		 . 0.68151 HOM Link to ClinVar
256270 253676 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.77687 0.68351 HOM Link to ClinVar
256269 253677 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.77249 0.67392 HOM Link to ClinVar
256268 253678 Benign not_specified 0.4945 0.4361 HET Link to ClinVar
298718 320575 Conflicting_interpretations_of_pathogenicity Epidermolysis_bullosa,_junctional
not_provided		 0.00277 0.0022 HET Link to ClinVar
256267 253679 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.78034 0.69369 HOM Link to ClinVar
298725 320577 Likely_benign Epidermolysis_bullosa,_junctional 0.13902 0.09964 HET Link to ClinVar
256266 253680 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.93566 0.81849 HOM Link to ClinVar
256263 253682 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.64732 0.55252 HOM Link to ClinVar
256276 253683 Benign Epidermolysis_bullosa,_junctional
not_specified		 0.67395 0.5649 HOM Link to ClinVar
667614 664557 Benign not_provided . . HOM Link to ClinVar
674950 664832 Benign not_provided . . HOM Link to ClinVar
670110 664008 Benign not_provided . . HOM Link to ClinVar
259770 253686 Benign not_specified . 0.14197 HET Link to ClinVar
259771 253687 Benign not_specified 0.14944 0.14816 HET Link to ClinVar
159992 168820 Benign not_specified
Cornelia_de_Lange_Syndrome		 0.14899 0.14816 HET Link to ClinVar
259765 253688 Benign not_specified 0.14885 0.14816 HET Link to ClinVar
670112 664566 Benign not_provided . . HET Link to ClinVar
259768 253691 Benign not_specified
not_provided		 0.97925 0.95727 HOM Link to ClinVar
670113 664551 Benign not_provided . . HOM Link to ClinVar
670114 664834 Benign not_provided . . HOM Link to ClinVar
259769 253692 Benign not_specified . 0.14896 HET Link to ClinVar
159985 168840 Benign History_of_neurodevelopmental_disorder
not_specified
Cornelia_de_Lange_Syndrome
not_provided		 . 0.98682 HOM Link to ClinVar
674952 664567 Benign not_provided . . HOM Link to ClinVar
44029 53197 Benign/Likely_benign Cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant		 0.15223 0.22224 HET Link to ClinVar
671182 664564 Benign not_provided . . HOM Link to ClinVar
673055 664579 Benign not_provided . . HET Link to ClinVar
671183 664030 Benign not_provided . . HET Link to ClinVar
43975 53143 Benign/Likely_benign not_specified
Dilated_Cardiomyopathy,_Dominant		 0.16402 0.16414 HET Link to ClinVar
138901 142604 Benign/Likely_benign Cardiomyopathy
Dilated_cardiomyopathy_1DD
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant		 . 0.99101 HOM Link to ClinVar
671184 664589 Benign not_provided . . HOM Link to ClinVar
671185 664590 Benign not_provided . . HOM Link to ClinVar
672036 664860 Benign not_provided . . HOM Link to ClinVar
672037 664037 Benign not_provided . . HOM Link to ClinVar
678595 664594 Benign not_provided . . HOM Link to ClinVar
678597 664040 Benign not_provided . . HOM Link to ClinVar
44012 53180 Benign/Likely_benign Dilated_cardiomyopathy_1DD
not_specified
Dilated_Cardiomyopathy,_Dominant		 0.988 0.96965 HOM Link to ClinVar
672038 664041 Benign not_provided . . HOM Link to ClinVar
44016 53184 Benign/Likely_benign Dilated_cardiomyopathy_1DD
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant		 . 0.69709 HOM Link to ClinVar
298808 320661 Likely_benign Dilated_Cardiomyopathy,_Dominant . 0.01378 HET Link to ClinVar
561542 552614 Benign not_provided . 0.45048 HOM Link to ClinVar
561589 552615 Benign not_provided . 0.97145 HOM Link to ClinVar
41450 49888 Benign not_specified
not_provided		 0.83475 0.84325 HOM Link to ClinVar
561497 552618 Likely_benign not_provided . 0.01138 HET Link to ClinVar
561496 552619 Benign not_provided . 0.39417 HOM Link to ClinVar
511078 502747 Likely_benign not_specified . 0.45647 HOM Link to ClinVar
298892 320281 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia . 0.32228 HET Link to ClinVar
298898 314323 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia 0.62349 0.53455 HET Link to ClinVar
298912 314337 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia 0.40036 0.377 HET Link to ClinVar
298915 309537 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia . 0.3762 HET Link to ClinVar
298930 320351 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia 0.34897 0.34764 HET Link to ClinVar
760916 767642 Benign not_provided . . HET Link to ClinVar
17747 32786 Likely_benign Resting_heart_rate
not_specified		 0.304 0.17772 HET Link to ClinVar
17746 32785 drug_response Congestive_heart_failure_and_beta-blocker_response,_modifier_of 0.736 0.70168 HET Link to ClinVar
780913 712183 Benign not_provided . . HET Link to ClinVar
683832 664599 Benign not_provided . . HOM Link to ClinVar
683829 664615 Benign not_provided . . HOM Link to ClinVar
380007 371170 Benign not_specified
not_provided		 0.49633 0.50998 HOM Link to ClinVar
683828 664055 Benign not_provided . . HOM Link to ClinVar
683826 664888 Benign not_provided . . HOM Link to ClinVar
380006 371173 Benign not_specified
not_provided		 0.48192 0.49441 HOM Link to ClinVar
683825 664622 Benign not_provided . . HOM Link to ClinVar
683824 664059 Benign not_provided . . HOM Link to ClinVar
671234 664065 Benign not_provided . . HOM Link to ClinVar
671337 664625 Benign not_provided . . HET Link to ClinVar
675495 664909 Likely_benign not_provided . . HET Link to ClinVar
259263 253698 Benign not_specified 0.67674 0.63518 HOM Link to ClinVar
44777 53944 Benign Myofibrillar_myopathy,_BAG3-related
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
not_provided		 0.7409 0.70647 HOM Link to ClinVar
298967 320409 Benign Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant		 . . HOM Link to ClinVar
298973 309576 Benign Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant		 . 0.15316 HET Link to ClinVar
298991 309584 Benign Craniosynostosis
Crouzon_syndrome
Acrocephalosyndactyly_type_I
Saethre-Chotzen_syndrome
Pfeiffer_syndrome
Levy-Hollister_syndrome
Jackson-Weiss_syndrome
Cutis_Gyrata_syndrome_of_Beare_and_Stevenson
Isolated_coronal_synostosis
not_specified
not_provided		 0.53105 0.41434 HET Link to ClinVar
667903 664070 Benign not_provided . . HET Link to ClinVar
667902 664912 Benign not_provided . . HOM Link to ClinVar
667901 664913 Benign not_provided . . HET Link to ClinVar
255317 253699 Benign Craniosynostosis
Crouzon_syndrome
Acrocephalosyndactyly_type_I
Saethre-Chotzen_syndrome
Pfeiffer_syndrome
Levy-Hollister_syndrome
Jackson-Weiss_syndrome
Cutis_Gyrata_syndrome_of_Beare_and_Stevenson
Isolated_coronal_synostosis
not_specified		 0.56138 0.42312 HET Link to ClinVar
667900 664919 Benign not_provided . . HET Link to ClinVar
667899 664927 Benign not_provided . . HOM Link to ClinVar
255319 253704 Benign Craniosynostosis
Crouzon_syndrome
Acrocephalosyndactyly_type_I
Saethre-Chotzen_syndrome
Pfeiffer_syndrome
Levy-Hollister_syndrome
Jackson-Weiss_syndrome
Cutis_Gyrata_syndrome_of_Beare_and_Stevenson
Isolated_coronal_synostosis
not_specified		 . 0.79533 HET Link to ClinVar
299019 320469 Benign Craniosynostosis
Crouzon_syndrome
Acrocephalosyndactyly_type_I
Saethre-Chotzen_syndrome
Pfeiffer_syndrome
Levy-Hollister_syndrome
Jackson-Weiss_syndrome
Cutis_Gyrata_syndrome_of_Beare_and_Stevenson
Isolated_coronal_synostosis		 . 0.71026 HOM Link to ClinVar
299029 314432 Likely_benign Macular_degeneration . 0.11442 HET Link to ClinVar
299039 309623 Likely_benign Macular_degeneration . 0.05192 HET Link to ClinVar
299041 314437 Likely_benign Macular_degeneration . 0.05192 HET Link to ClinVar
21325 34177 Benign/Likely_benign Macular_degeneration
Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy		 . 0.04892 HET Link to ClinVar
299054 309634 Benign/Likely_benign Macular_degeneration
not_provided		 0.99984 0.9994 HOM Link to ClinVar
299055 320494 Likely_benign Macular_degeneration 0.61126 0.628 HOM Link to ClinVar
768398 701230 Likely_benign not_provided . . HET Link to ClinVar
402577 389937 Benign not_specified . . HET Link to ClinVar
368893 353122 Likely_benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.01298 HET Link to ClinVar
299060 321002 Likely_benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . HET Link to ClinVar
299089 320535 Uncertain_significance Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . HOM Link to ClinVar
299099 320547 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.44149 HET Link to ClinVar
299119 309669 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.89537 HOM Link to ClinVar
299126 321076 Likely_benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.10104 HET Link to ClinVar
299128 321077 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.17272 HET Link to ClinVar
299134 314520 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.16154 HET Link to ClinVar
299143 321087 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.96226 HOM Link to ClinVar
299152 309686 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.96226 HOM Link to ClinVar
299160 320612 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . 0.33387 HET Link to ClinVar
683257 664657 Benign not_provided . . HOM Link to ClinVar
161 15200 Benign Ornithine_aminotransferase_deficiency
not_provided		 0.41803 0.40994 HOM Link to ClinVar
683256 664627 Benign not_provided . . HOM Link to ClinVar
683255 664933 Benign not_provided . . HOM Link to ClinVar
672113 664628 Benign not_provided . . HOM Link to ClinVar
684343 664074 Benign not_provided . . HOM Link to ClinVar
167396 177892 Benign Ornithine_aminotransferase_deficiency
not_specified
not_provided		 0.85261 0.86582 HOM Link to ClinVar
683242 664942 Benign not_provided . . HOM Link to ClinVar
299181 320637 Benign Ornithine_aminotransferase_deficiency . 0.86302 HOM Link to ClinVar
299198 321178 Benign Congenital_erythropoietic_porphyria . 0.3732 HET Link to ClinVar
225268 227033 Benign Congenital_erythropoietic_porphyria . 0.37939 HET Link to ClinVar
771743 701252 Benign not_provided . . HET Link to ClinVar
683765 664632 Benign not_provided . . HOM Link to ClinVar
379966 373332 Benign not_specified 0.98411 0.94788 HOM Link to ClinVar
683763 664688 Benign not_provided . . HOM Link to ClinVar
683762 664656 Benign not_provided . . HOM Link to ClinVar
683761 664661 Benign not_provided . . HOM Link to ClinVar
379965 370659 Benign not_specified 0.91308 0.82129 HOM Link to ClinVar
683758 664952 Benign not_provided . . HOM Link to ClinVar
683757 664086 Benign not_provided . . HOM Link to ClinVar
402581 389879 Benign not_specified 0.99116 0.97284 HOM Link to ClinVar
402582 389938 Benign not_specified 0.83022 0.70088 HOM Link to ClinVar
768404 701694 Benign not_provided . . HET Link to ClinVar
768405 701695 Benign not_provided . . HET Link to ClinVar
669653 665036 Benign not_provided . . HET Link to ClinVar
674990 665986 Benign not_provided . . HET Link to ClinVar
193131 190296 Benign Osteogenesis_imperfecta_type_5
not_specified		 . 0.59265 HET Link to ClinVar
674885 665688 Benign not_provided . . HOM Link to ClinVar
667613 665859 Benign not_provided . . HET Link to ClinVar
667612 665863 Benign not_provided . . HET Link to ClinVar
561388 552660 Benign not_provided . 0.05611 HET Link to ClinVar
40431 48901 Benign Costello_syndrome
Rasopathy
not_specified
not_provided		 0.31352 0.29712 HOM Link to ClinVar
561357 552665 Benign not_provided . . . Link to ClinVar
476072 461411 Benign not_provided . . HET Link to ClinVar
306252 322136 Benign Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive . 0.29932 HET Link to ClinVar
670574 666116 Benign not_provided . . . Link to ClinVar
667943 665287 Benign not_provided . . HOM Link to ClinVar
667944 666312 Benign not_provided . . HOM Link to ClinVar
261245 254345 Benign not_specified 0.53418 0.44249 HOM Link to ClinVar
252728 247067 Benign/Likely_benign Neutral_lipid_storage_disease_with_myopathy
not_specified		 . 0.00759 HET Link to ClinVar
261236 254357 Benign Neutral_lipid_storage_disease_with_myopathy
not_specified		 0.59237 0.65435 HOM Link to ClinVar
306309 328307 Benign Neutral_lipid_storage_disease_with_myopathy . . HOM Link to ClinVar
306310 328308 Benign Neutral_lipid_storage_disease_with_myopathy . 0.34225 HOM Link to ClinVar
178786 175377 Benign not_specified 0.43955 0.39277 HET Link to ClinVar
163995 175100 Benign not_specified . 0.56949 HET Link to ClinVar
163996 175799 Benign not_specified . 0.46446 HET Link to ClinVar
163997 175659 Benign not_specified 0.64398 0.54493 HET Link to ClinVar
403127 389907 Benign not_specified . . HET Link to ClinVar
163998 175660 Benign not_specified 0.37979 0.33946 HET Link to ClinVar
403133 389975 Benign not_specified 0.12254 0.08526 HET Link to ClinVar
403141 389852 Benign not_specified 0.13916 0.09764 HET Link to ClinVar
403147 389977 Benign not_specified 0.19789 0.32149 HET Link to ClinVar
403148 389927 Benign not_specified 0.16938 0.29493 HET Link to ClinVar
403150 389877 Benign not_specified 0.48968 0.48063 HET Link to ClinVar
403159 389881 Benign not_specified . . HET Link to ClinVar
403165 389999 Benign not_specified . 0.28894 HET Link to ClinVar
403171 389954 Benign not_specified . 0.46146 HET Link to ClinVar
403175 390023 Benign not_specified . 0.46705 HET Link to ClinVar
403179 390027 Benign not_specified . 0.54034 HET Link to ClinVar
403180 390035 Benign not_specified 0.31906 0.33886 HET Link to ClinVar
303822 319538 Likely_benign Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive . 0.15595 HET Link to ClinVar
303831 313438 Likely_benign Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive . 0.20048 HET Link to ClinVar
670819 665706 Benign not_provided . . HET Link to ClinVar
258490 254079 Benign Ceroid_lipofuscinosis_neuronal_10
not_specified
not_provided		 0.07866 0.05232 HET Link to ClinVar
128876 134324 Benign/Likely_benign Seizures
Ceroid_lipofuscinosis_neuronal_10
not_specified
Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive
not_provided		 0.07837 0.07628 HET Link to ClinVar
128875 134323 Benign/Likely_benign Seizures
Ceroid_lipofuscinosis_neuronal_10
not_specified
Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive
not_provided		 0.07131 0.05531 HET Link to ClinVar
128873 134321 Benign/Likely_benign Seizures
Ceroid_lipofuscinosis_neuronal_10
not_specified
Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive
not_provided		 0.07041 0.05531 HET Link to ClinVar
669403 665626 Benign not_provided . . HET Link to ClinVar
140481 150159 not_provided not_provided . 0.17372 HET Link to ClinVar
94120 100020 Benign/Likely_benign Arthrogryposis_multiplex_congenita_distal
Arthrogryposis_multiplex_congenita
Distal_arthrogryposis_type_2B
not_specified
not_provided		 . 0.82768 HET Link to ClinVar
259023 254092 Benign not_specified 0.26589 0.17692 HET Link to ClinVar
31866 40526 not_provided not_provided . 0.78135 HET Link to ClinVar
31868 40528 not_provided not_provided . 0.77975 HET Link to ClinVar
31869 40529 not_provided not_provided . 0.8105 HET Link to ClinVar
260032 254096 Benign not_specified . 0.82428 HET Link to ClinVar
304051 326978 Benign Maturity_onset_diabetes_mellitus_in_young
Segawa_syndrome,_autosomal_recessive
Transient_Neonatal_Diabetes,_Dominant/Recessive		 0.7378 0.64916 HOM Link to ClinVar
255532 254106 Benign Maturity_onset_diabetes_mellitus_in_young
Segawa_syndrome,_autosomal_recessive
not_specified
Transient_Neonatal_Diabetes,_Dominant/Recessive		 0.98049 0.93391 HOM Link to ClinVar
304059 319828 Benign Maturity_onset_diabetes_mellitus_in_young
Segawa_syndrome,_autosomal_recessive
Transient_Neonatal_Diabetes,_Dominant/Recessive
not_provided		 0.7268 0.64956 HOM Link to ClinVar
263257 254111 Benign not_specified 0.71949 0.70567 HOM Link to ClinVar
526231 526178 Benign Dystonia . 0.2502 HET Link to ClinVar
21866 34718 Benign Segawa_syndrome,_autosomal_recessive
not_specified
not_provided		 0.4249 0.43051 HET Link to ClinVar
671897 665973 Benign not_provided . . HOM Link to ClinVar
42488 51658 Benign Arrhythmia
Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
short_QT_syndrome
Familial_atrial_fibrillation
not_specified
Cardiovascular_phenotype
not_provided		 0.25844 0.18091 HOM Link to ClinVar
671898 665855 Benign not_provided . . HOM Link to ClinVar
671899 665983 Benign not_provided . . HET Link to ClinVar
304249 326211 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
short_QT_syndrome
Familial_atrial_fibrillation		 0.10548 0.09105 HET Link to ClinVar
304262 320017 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
short_QT_syndrome
Familial_atrial_fibrillation		 0.44813 0.52177 HET Link to ClinVar
304268 320030 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
short_QT_syndrome
Familial_atrial_fibrillation		 0.44745 0.51538 HET Link to ClinVar
254879 254131 Benign not_specified . . HET Link to ClinVar
768417 701720 Benign not_provided . . HET Link to ClinVar
768418 777942 Benign not_provided . . HOM Link to ClinVar
258966 254154 Benign not_specified 0.4996 0.38898 HET Link to ClinVar
258971 254158 Benign not_specified 0.88996 0.8121 HOM Link to ClinVar
769375 701771 Benign not_provided . . HOM Link to ClinVar
403275 390067 Benign not_specified 0.21287 0.21586 HET Link to ClinVar
403274 390070 Benign not_specified 0.13541 0.30312 HOM Link to ClinVar
256342 254201 Benign not_specified . 0.71026 HET Link to ClinVar
256341 254202 Benign not_specified
not_provided		 . 0.09924 HET Link to ClinVar
36316 44980 Benign beta_Thalassemia
not_specified
not_provided		 . 0.71386 HET Link to ClinVar
439774 433082 Benign beta_Thalassemia
not_specified
not_provided		 . 0.09924 HET Link to ClinVar
256345 254206 Benign/Likely_benign beta_Thalassemia
not_specified		 0.7699 0.72005 HET Link to ClinVar
193106 190271 Benign Hb_SS_disease
beta_Thalassemia
Fetal_hemoglobin_quantitative_trait_locus_1
not_specified		 . 0.71426 HET Link to ClinVar
219307 220996 Uncertain_significance Malignant_tumor_of_prostate 0.00423 0.0026 HET Link to ClinVar
256592 254229 Benign not_specified
not_provided		 . . HOM Link to ClinVar
93317 99224 Benign/Likely_benign Sphingomyelin/cholesterol_lipidosis
not_specified
not_provided		 0.19174 0.14996 HET Link to ClinVar
674309 656069 Benign not_provided . . HOM Link to ClinVar
201786 198367 Benign Cardiomyopathy
not_specified		 . . HOM Link to ClinVar
305489 328601 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.8103 HOM Link to ClinVar
305490 327528 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.44888 HOM Link to ClinVar
558850 549679 Benign not_provided 0.99686 0.98982 HOM Link to ClinVar
305512 321432 Uncertain_significance Neuronal_Ceroid-Lipofuscinosis,_Recessive
not_provided		 . . HOM Link to ClinVar
558856 549685 Benign not_provided 0.54941 0.46206 HOM Link to ClinVar
773524 701905 Benign not_provided . . HET Link to ClinVar
306557 328659 Benign Charcot-Marie-Tooth_disease_type_4 . 0.61082 HOM Link to ClinVar
306572 315597 Benign Charcot-Marie-Tooth_disease_type_4 0.30903 0.32748 HOM Link to ClinVar
669272 665931 Benign not_provided . . HOM Link to ClinVar
673451 666136 Benign not_provided . . HOM Link to ClinVar
669269 666377 Benign not_provided . . HOM Link to ClinVar
669268 665942 Benign not_provided . . HOM Link to ClinVar
261940 254371 Benign Charcot-Marie-Tooth_disease,_type_4B2
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.85836 0.80272 HOM Link to ClinVar
669265 665304 Benign not_provided . . HOM Link to ClinVar
669264 665972 Benign not_provided . . HOM Link to ClinVar
669263 665974 Benign not_provided . . HOM Link to ClinVar
669262 666140 Benign not_provided . . HET Link to ClinVar
669306 665320 Benign not_provided . . HET Link to ClinVar
671682 666379 Benign not_provided . . HET Link to ClinVar
138965 142668 Benign/Likely_benign Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.09873 0.08227 HET Link to ClinVar
669260 665980 Benign not_provided . . HET Link to ClinVar
670562 666383 Benign not_provided . . HOM Link to ClinVar
669259 666384 Benign not_provided . . HOM Link to ClinVar
669258 665322 Benign not_provided . . HET Link to ClinVar
672627 666397 Benign not_provided . . HET Link to ClinVar
672626 665325 Benign not_provided . . HOM Link to ClinVar
670561 666152 Benign not_provided . . HOM Link to ClinVar
684195 665990 Benign not_provided . . HOM Link to ClinVar
673450 665327 Benign not_provided . . HOM Link to ClinVar
670558 665379 Benign not_provided . . HOM Link to ClinVar
302137 312171 Likely_benign Erythrocyte_AMP_deaminase_deficiency . 0.61961 HOM Link to ClinVar
302140 312172 Benign Erythrocyte_AMP_deaminase_deficiency . 0.99461 HOM Link to ClinVar
302142 324733 Likely_benign Erythrocyte_AMP_deaminase_deficiency . 0.71765 HOM Link to ClinVar
302175 324011 Benign/Likely_benign Erythrocyte_AMP_deaminase_deficiency
not_specified		 0.40837 0.36741 HET Link to ClinVar
302181 317975 Benign Erythrocyte_AMP_deaminase_deficiency . 0.97484 HOM Link to ClinVar
302184 324028 Benign Erythrocyte_AMP_deaminase_deficiency . 0.94728 HOM Link to ClinVar
302186 324845 Benign Erythrocyte_AMP_deaminase_deficiency . 0.99341 HOM Link to ClinVar
302190 312217 Benign Erythrocyte_AMP_deaminase_deficiency . 0.99401 HOM Link to ClinVar
255817 254060 Benign Hypoparathyroidism_familial_isolated
not_specified		 0.16106 0.15136 HET Link to ClinVar
255816 254061 Benign Hypoparathyroidism_familial_isolated
not_specified		 0.55792 0.41773 HET Link to ClinVar
127107 132616 not_provided not_provided . 0.95108 HOM Link to ClinVar
127108 132617 Likely_pathogenic not_provided . 0.66514 HET Link to ClinVar
127110 132619 not_provided not_provided . 0.10084 HET Link to ClinVar
303722 326654 Likely_benign Maturity_onset_diabetes_mellitus_in_young
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive		 . 0.46885 HOM Link to ClinVar
303727 319470 Likely_benign Maturity_onset_diabetes_mellitus_in_young
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive		 . 0.46765 HOM Link to ClinVar
303731 319487 Likely_benign Maturity_onset_diabetes_mellitus_in_young
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive		 . 0.73582 HOM Link to ClinVar
158670 168863 Benign/Likely_benign Maturity_onset_diabetes_mellitus_in_young
Islet_cell_hyperplasia
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive		 0.64484 0.73063 HOM Link to ClinVar
158680 168871 Benign/Likely_benign Maturity_onset_diabetes_mellitus_in_young
Islet_cell_hyperplasia
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive		 . 0.22744 HET Link to ClinVar
8678 23717 drug_response glibenclamide_response_-_Efficacy
gliclazide_response_-_Efficacy
glimepiride_response_-_Efficacy
glipizide_response_-_Efficacy
gliquidone_response_-_Efficacy
Maturity_onset_diabetes_mellitus_in_young
Diabetes_mellitus_type_2
Permanent_neonatal_diabetes_mellitus
Islet_cell_hyperplasia
Exercise_stress_response,_impaired,_association_with
not_specified
sulfonamides,_urea_derivatives_response_-_Efficacy
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive		 0.6471 0.73702 HOM Link to ClinVar
435554 429192 Benign not_specified . . HOM Link to ClinVar
157704 167552 Likely_benign not_specified 0.34386 0.35623 HET Link to ClinVar
157700 167548 Likely_benign not_specified 0.45834 0.42153 HET Link to ClinVar
157699 167547 Benign Permanent_neonatal_diabetes_mellitus
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
not_provided		 . 0.72644 HOM Link to ClinVar
157698 167546 Benign Permanent_neonatal_diabetes_mellitus
Hyperinsulinemic_hypoglycemia,_familial,_1
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive		 0.29623 0.39097 HET Link to ClinVar
157694 167542 Benign not_specified
not_provided		 0.61247 0.61462 HOM Link to ClinVar
157688 167536 Benign Permanent_neonatal_diabetes_mellitus
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
not_provided		 0.43459 0.36841 HET Link to ClinVar
157684 167532 Benign Permanent_neonatal_diabetes_mellitus
Hyperinsulinemic_hypoglycemia,_familial,_1
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive		 0.43112 0.42991 HET Link to ClinVar
446763 441416 Uncertain_significance not_specified . 0.0016 HET Link to ClinVar
303793 325652 Benign Retinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive		 . . HOM Link to ClinVar
667875 665835 Benign not_provided . . HOM Link to ClinVar
48008 57172 Benign not_specified 0.40618 0.36981 HOM Link to ClinVar
678908 665590 Benign not_provided . . HOM Link to ClinVar
678883 665837 Benign not_provided . . HOM Link to ClinVar
678909 665660 Benign not_provided . . HOM Link to ClinVar
678882 664971 Benign not_provided . . HET Link to ClinVar
670420 665666 Benign not_provided . . HET Link to ClinVar
678881 664973 Benign not_provided . . HET Link to ClinVar
670419 665858 Benign not_provided . . HOM Link to ClinVar
262731 254073 Benign not_specified
not_provided		 0.16359 0.19988 HET Link to ClinVar
670417 665668 Benign not_provided . . HOM Link to ClinVar
678880 665860 Likely_benign not_provided . . HET Link to ClinVar
47976 57140 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.56886 0.51637 HOM Link to ClinVar
47975 57139 Uncertain_significance not_specified 0.00014 0.0006 HET Link to ClinVar
47974 57138 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.06077 0.08566 HET Link to ClinVar
670416 665673 Benign not_provided . . HOM Link to ClinVar
670415 665676 Benign not_provided . . HOM Link to ClinVar
670414 664981 Benign not_provided . . HOM Link to ClinVar
47973 57137 Benign not_specified . 0.44269 HET Link to ClinVar
678879 665865 Benign not_provided . . HOM Link to ClinVar
678911 665682 Benign not_provided . . HET Link to ClinVar
672462 665685 Benign not_provided . . HET Link to ClinVar
672461 665602 Benign not_provided . . HET Link to ClinVar
667874 664982 Benign not_provided . . HET Link to ClinVar
678907 665694 Likely_benign not_provided . . HET Link to ClinVar
262736 254076 Benign not_specified . . HOM Link to ClinVar
226892 230112 Benign not_specified 0.76796 0.82608 HOM Link to ClinVar
768433 777941 Benign not_provided . . HET Link to ClinVar
262985 254082 Benign not_specified 0.61165 0.65016 HET Link to ClinVar
262983 254084 Benign not_specified 0.59145 0.65016 HET Link to ClinVar
183158 181294 association decreased_blood_alpha-hydroxyisovalerate_levels . 0.41873 HET Link to ClinVar
163678 175690 Benign Hermansky-Pudlak_syndrome
not_specified		 0.72896 0.80471 HET Link to ClinVar
303908 313482 Likely_benign Glycogen_storage_disease_XI . . HET Link to ClinVar
683023 665627 Benign not_provided . . HOM Link to ClinVar
683024 665738 Benign not_provided . . HOM Link to ClinVar
303912 325801 Benign/Likely_benign Glycogen_storage_disease_XI
not_specified
not_provided		 0.14419 0.09744 HET Link to ClinVar
684191 665925 Benign not_provided . . HOM Link to ClinVar
683025 665630 Benign not_provided . . HOM Link to ClinVar
303914 319682 Benign Glycogen_storage_disease_XI
not_specified
not_provided		 0.69779 0.63458 HOM Link to ClinVar
303915 325814 Benign Glycogen_storage_disease_XI
not_specified
not_provided		 0.69772 0.63458 HOM Link to ClinVar
558836 549651 Benign not_provided 0.70136 0.63478 HOM Link to ClinVar
683026 664999 Benign not_provided . . HOM Link to ClinVar
684193 665748 Benign not_provided . . HET Link to ClinVar
683028 665752 Benign not_provided . . HOM Link to ClinVar
683029 665640 Benign not_provided . . HOM Link to ClinVar
684194 665755 Benign not_provided . . HOM Link to ClinVar
303925 313501 Benign Glycogen_storage_disease_XI 0.54839 0.4984 HET Link to ClinVar
303926 313504 Benign Glycogen_storage_disease_XI 0.71624 0.62999 HOM Link to ClinVar
303929 313512 Benign Glycogen_storage_disease_XI 0.54821 0.498 HET Link to ClinVar
672012 665772 Benign not_provided . . HET Link to ClinVar
678472 665773 Benign not_provided . . HET Link to ClinVar
683441 665776 Benign not_provided . . HET Link to ClinVar
683439 665783 Benign not_provided . . HET Link to ClinVar
683438 665792 Benign not_provided . . HET Link to ClinVar
303991 319758 Benign Hyperekplexia 0.08897 0.0637 HET Link to ClinVar
304002 319765 Benign Hyperekplexia 0.40668 0.40575 HET Link to ClinVar
304003 313581 Benign Hyperekplexia . 0.1903 HET Link to ClinVar
304006 313586 Benign Hyperekplexia . 0.32688 HET Link to ClinVar
304008 313588 Benign Hyperekplexia
Hyperekplexia_3		 0.77891 0.79313 HOM Link to ClinVar
304011 325940 Benign Hyperekplexia
Hyperekplexia_3		 0.99832 0.99361 HOM Link to ClinVar
304018 325978 Benign Hyperekplexia . 0.9974 HOM Link to ClinVar
304026 319779 Benign Hyperekplexia . 0.0619 HET Link to ClinVar
304033 326944 Benign Hyperekplexia 0.16228 0.07548 HOM Link to ClinVar
304043 326948 Benign Hyperekplexia 0.18331 0.14078 HOM Link to ClinVar
304093 319863 Benign Gnathodiaphyseal_dysplasia
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . . HET Link to ClinVar
140544 150222 Benign not_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 . 0.78994 HET Link to ClinVar
140547 150225 Benign not_provided . 0.57648 HET Link to ClinVar
140548 150226 Benign not_provided . 0.57428 HET Link to ClinVar
140554 150232 Benign not_provided . 0.78994 HET Link to ClinVar
667964 665646 Benign not_provided . . HET Link to ClinVar
96681 102574 Benign not_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.77722 0.78994 HET Link to ClinVar
140559 150237 not_provided not_provided . 0.78994 HET Link to ClinVar
667965 665830 Benign not_provided . . HET Link to ClinVar
96687 102580 Benign/Likely_benign not_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 . . HET Link to ClinVar
140557 150235 Benign not_provided . 0.20647 HET Link to ClinVar
304121 326025 Likely_benign Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.44409 HET Link to ClinVar
304130 327045 Likely_benign Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.56749 HET Link to ClinVar
304140 326053 Likely_benign Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . . HET Link to ClinVar
304142 319915 Likely_benign Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . . HET Link to ClinVar
304163 319943 Benign Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.69289 HET Link to ClinVar
304181 327062 Uncertain_significance Fanconi_anemia . . HET Link to ClinVar
304185 319949 Benign Fanconi_anemia . 0.94908 HOM Link to ClinVar
304190 326155 Benign Fanconi_anemia . 0.97145 HOM Link to ClinVar
304197 313761 Benign Fanconi_anemia . 0.70367 HOM Link to ClinVar
261630 254128 Benign Fanconi_anemia
not_specified
not_provided		 . 0.11382 HET Link to ClinVar
179329 175704 Benign not_specified 0.99891 0.99521 HOM Link to ClinVar
17697 32736 Benign Memory_impairment,_susceptibility_to
not_specified		 0.19375 0.20128 HET Link to ClinVar
257061 254134 Benign/Likely_benign not_specified
isolated_follicle-stimulating_hormone_deficiency		 0.5142 0.61482 HOM Link to ClinVar
304280 320035 Likely_benign isolated_follicle-stimulating_hormone_deficiency . 0.55851 HOM Link to ClinVar
304281 313853 Likely_benign isolated_follicle-stimulating_hormone_deficiency . 0.55871 HOM Link to ClinVar
304283 320036 Likely_benign isolated_follicle-stimulating_hormone_deficiency . 0.55731 HOM Link to ClinVar
304301 320084 Benign Congenital_aniridia
Anophthalmia
Irido-corneo-trabecular_dysgenesis
Wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardation_syndrome
Keratitis,_hereditary
Foveal_hypoplasia_and_presenile_cataract_syndrome
Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability		 . 0.64317 HET Link to ClinVar
304309 320089 Benign Congenital_aniridia
Anophthalmia
Irido-corneo-trabecular_dysgenesis
Wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardation_syndrome
Keratitis,_hereditary
Foveal_hypoplasia_and_presenile_cataract_syndrome
Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability		 . . HET Link to ClinVar
304310 327207 Benign Congenital_aniridia
Anophthalmia
Irido-corneo-trabecular_dysgenesis
Wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardation_syndrome
Keratitis,_hereditary
Foveal_hypoplasia_and_presenile_cataract_syndrome
Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability		 . 0.84984 HOM Link to ClinVar
304317 327217 Benign Congenital_aniridia
Anophthalmia
Irido-corneo-trabecular_dysgenesis
Wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardation_syndrome
Keratitis,_hereditary
Foveal_hypoplasia_and_presenile_cataract_syndrome
Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability		 . 0.84784 HOM Link to ClinVar
304328 320108 Benign Congenital_aniridia
Anophthalmia
Irido-corneo-trabecular_dysgenesis
Wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardation_syndrome
Keratitis,_hereditary
Foveal_hypoplasia_and_presenile_cataract_syndrome
Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability		 . 0.17332 HET Link to ClinVar
304334 327224 Benign Congenital_aniridia
Anophthalmia
Irido-corneo-trabecular_dysgenesis
Wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardation_syndrome
Keratitis,_hereditary
Foveal_hypoplasia_and_presenile_cataract_syndrome
Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability		 . 0.44788 HET Link to ClinVar
304341 313877 Benign Congenital_aniridia
Anophthalmia
Irido-corneo-trabecular_dysgenesis
Wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardation_syndrome
Keratitis,_hereditary
Foveal_hypoplasia_and_presenile_cataract_syndrome
Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability		 . 0.66094 HET Link to ClinVar
674009 665691 Benign not_provided . . HET Link to ClinVar
258168 254136 Benign Congenital_aniridia
Anophthalmia
Irido-corneo-trabecular_dysgenesis
Wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardation_syndrome
Keratitis,_hereditary
Foveal_hypoplasia_and_presenile_cataract_syndrome
not_specified
Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability		 0.07792 0.09046 HET Link to ClinVar
768439 701735 Benign not_provided . . HET Link to ClinVar
403219 390041 Benign not_specified 0.93369 0.86042 HOM Link to ClinVar
559060 549658 Benign not_provided 0.6749 0.52875 HOM Link to ClinVar
126867 132380 association Calcium_oxalate_urolithiasis . 0.27636 HET Link to ClinVar
126868 132381 association Calcium_oxalate_urolithiasis . 0.27636 HET Link to ClinVar
126869 132382 association Calcium_oxalate_urolithiasis . 0.19748 HET Link to ClinVar
126871 132384 association Calcium_oxalate_urolithiasis . 0.28095 HET Link to ClinVar
126872 132385 association Calcium_oxalate_urolithiasis . 0.45347 HET Link to ClinVar
126875 132388 association Calcium_oxalate_urolithiasis . 0.53994 HET Link to ClinVar
126877 132390 association Calcium_oxalate_urolithiasis . 0.38818 HET Link to ClinVar
304542 320476 Benign Histiocytic_medullary_reticulosis
Severe_Combined_Immune_Deficiency		 . 0.61322 HET Link to ClinVar
304561 326452 Likely_benign Histiocytic_medullary_reticulosis
Severe_Combined_Immune_Deficiency		 . 0.09764 HET Link to ClinVar
304569 320503 Benign Hereditary_Multiple_Osteochondromatosis . 0.08586 HET Link to ClinVar
304623 326553 Benign Enlarged_parietal_foramina . 0.90735 HET Link to ClinVar
304633 326556 Benign Enlarged_parietal_foramina . 0.73263 HET Link to ClinVar
304644 327560 Benign Enlarged_parietal_foramina . 0.99181 HOM Link to ClinVar
304674 326607 Likely_benign Enlarged_parietal_foramina . 0.01378 HET Link to ClinVar
304683 320588 Likely_benign Enlarged_parietal_foramina . . HET Link to ClinVar
304686 320593 Benign Enlarged_parietal_foramina . 0.88478 HOM Link to ClinVar
304688 320598 Benign Enlarged_parietal_foramina . 0.75599 HOM Link to ClinVar
304694 326638 Likely_benign Enlarged_parietal_foramina . 0.19908 HET Link to ClinVar
304703 320622 Likely_benign Enlarged_parietal_foramina 0.08313 0.08007 HET Link to ClinVar
304706 320633 Benign Enlarged_parietal_foramina . 0.99161 HOM Link to ClinVar
304711 320636 Benign Enlarged_parietal_foramina 0.60283 0.37201 HOM Link to ClinVar
304715 320646 Benign Enlarged_parietal_foramina 0.59144 0.47264 HOM Link to ClinVar
95903 101799 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.21137 0.25 HET Link to ClinVar
261027 254171 Benign not_specified 0.17098 0.1887 HET Link to ClinVar
95905 101801 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.09415 0.10284 HET Link to ClinVar
261026 254172 Benign Congenital_disorder_of_glycosylation
not_specified		 0.67412 0.45128 HET Link to ClinVar
304748 327713 Likely_benign Congenital_disorder_of_glycosylation . 0.03175 HET Link to ClinVar
304755 327715 Likely_benign Congenital_disorder_of_glycosylation . 0.1246 HET Link to ClinVar
304757 314145 Benign Congenital_disorder_of_glycosylation . 0.72065 HOM Link to ClinVar
304759 326748 Benign Congenital_disorder_of_glycosylation 0.77429 0.65375 HOM Link to ClinVar
304760 314146 Benign Congenital_disorder_of_glycosylation 0.17013 0.1246 HET Link to ClinVar
368962 353191 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.03235 HET Link to ClinVar
259547 254173 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided		 0.81545 0.6891 HOM Link to ClinVar
259546 254174 Benign not_specified
not_provided		 0.81005 0.6849 HOM Link to ClinVar
802673 791139 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . HOM Link to ClinVar
259544 254176 Benign not_specified
not_provided		 . 0.01318 HET Link to ClinVar
768444 778136 Benign not_provided . . HOM Link to ClinVar
256315 254180 Benign/Likely_benign Venous_thrombosis
Hereditary_factor_II_deficiency_disease
not_specified		 0.60261 0.45527 HET Link to ClinVar
143996 153726 Uncertain_significance Venous_thrombosis . 0.28295 HET Link to ClinVar
304838 326840 Benign Syndactyly_Cenani_Lenz_type . 0.58267 HOM Link to ClinVar
304850 320781 Benign Syndactyly_Cenani_Lenz_type . 0.57967 HOM Link to ClinVar
304855 326858 Benign Syndactyly_Cenani_Lenz_type . 0.36761 HET Link to ClinVar
304872 326874 Benign Syndactyly_Cenani_Lenz_type
not_specified		 0.5849 0.44589 HET Link to ClinVar
304884 320834 Benign Syndactyly_Cenani_Lenz_type 0.98883 0.98083 HOM Link to ClinVar
304885 327831 Benign Syndactyly_Cenani_Lenz_type 0.99887 0.99461 HOM Link to ClinVar
188578 186356 Benign not_specified 0.10692 0.03295 HET Link to ClinVar
680647 665057 Benign not_provided . . HOM Link to ClinVar
680646 666044 Benign not_provided . . HOM Link to ClinVar
680645 666051 Benign not_provided . . HOM Link to ClinVar
42763 51933 Benign/Likely_benign Cardiomyopathy
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_hypertrophic_cardiomyopathy_4
not_specified
Dilated_Cardiomyopathy,_Dominant		 . . HOM Link to ClinVar
403458 390052 Benign Spondylocheirodysplasia,_Ehlers-Danlos_syndrome-like
not_specified		 0.98535 0.9405 HOM Link to ClinVar
384707 372229 Benign not_specified . 0.27057 HOM Link to ClinVar
684034 665908 Benign not_provided . . HOM Link to ClinVar
669109 665909 Benign not_provided . . HOM Link to ClinVar
130089 135535 Benign Pena-Shokeir_syndrome_type_I
not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 0.68373 0.6248 HOM Link to ClinVar
197249 194410 Benign Pena-Shokeir_syndrome_type_I
not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 . . HOM Link to ClinVar
130091 135537 Benign Pena-Shokeir_syndrome_type_I
not_specified
Congenital_Myasthenic_Syndrome,_Recessive		 0.68467 0.6256 HOM Link to ClinVar
679851 666065 Benign not_provided . . HOM Link to ClinVar
683070 665750 Benign not_provided . . HOM Link to ClinVar
768446 701795 Benign not_provided . . HOM Link to ClinVar
768448 701804 Benign not_provided . . HOM Link to ClinVar
668099 665910 Benign not_provided . . HOM Link to ClinVar
305042 314350 Likely_benign Intrinsic_factor_deficiency 0.07472 0.05371 HET Link to ClinVar
1742 16781 Benign Intrinsic_factor_deficiency,_congenital,_susceptibility_to
Intrinsic_factor_deficiency		 0.06072 0.10264 HET Link to ClinVar
260747 254215 Likely_benign not_specified 0.00044 0.0002 HET Link to ClinVar
671928 665081 Benign not_provided . . HET Link to ClinVar
667551 665912 Benign not_provided . . HOM Link to ClinVar
667552 665914 Benign not_provided . . HET Link to ClinVar
126296 131828 Benign Joubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided		 0.86588 0.85583 HET Link to ClinVar
167734 178098 Benign Joubert_syndrome
Meckel-Gruber_syndrome
Joubert_syndrome_1
not_specified
not_provided		 0.85933 0.85583 HET Link to ClinVar
126297 131829 Benign Joubert_syndrome
Meckel-Gruber_syndrome
Joubert_syndrome_1
not_specified
not_provided		 . 0.71965 HET Link to ClinVar
305090 314380 Benign Joubert_syndrome
Meckel-Gruber_syndrome		 . 0.71965 HET Link to ClinVar
260942 254221 Benign not_specified 0.8195 0.71805 HET Link to ClinVar
305100 327110 Benign Pheochromocytoma . 0.86142 HET Link to ClinVar
166753 177523 Benign/Likely_benign not_specified . . HOM Link to ClinVar
193666 190829 Benign Iron_Overload
Vitelliform_macular_dystrophy_type_2
Vitreoretinochoroidopathy
not_specified
Retinitis_Pigmentosa,_Recessive		 0.22712 0.11222 HET Link to ClinVar
99680 105569 Benign Iron_Overload
Vitelliform_macular_dystrophy_type_2
Vitreoretinochoroidopathy
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided		 0.17516 0.10144 HET Link to ClinVar
99682 105571 Benign Iron_Overload
Vitelliform_macular_dystrophy_type_2
Vitreoretinochoroidopathy
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided		 0.45834 0.59145 HET Link to ClinVar
774693 701832 Benign not_provided . . HET Link to ClinVar
167600 178019 Benign not_specified
not_provided		 0.98221 0.9353 HOM Link to ClinVar
802680 791146 Benign Multiple_joint_dislocations,_short_stature,_craniofacial_dysmorphism,_and_congenital_heart_defects . . HOM Link to ClinVar
684317 665916 Benign not_provided . . HOM Link to ClinVar
380147 374164 Benign not_specified 0.75856 0.7494 HOM Link to ClinVar
257496 254222 Benign not_specified 0.02209 0.00978 HET Link to ClinVar
257500 254223 Benign not_specified
not_provided		 0.7756 0.7494 HOM Link to ClinVar
678151 665751 Benign not_provided . . HOM Link to ClinVar
777228 701849 Benign not_provided . . HET Link to ClinVar
683606 665926 Benign not_provided . . HOM Link to ClinVar
683608 665934 Benign not_provided . . HOM Link to ClinVar
402862 390006 Benign not_specified . 0.3129 HOM Link to ClinVar
402864 390058 Benign not_specified 0.18989 0.16294 HET Link to ClinVar
305213 321162 Benign Familial_renal_hypouricemia . 0.38698 HET Link to ClinVar
305218 321164 Benign Familial_renal_hypouricemia . 0.57189 HET Link to ClinVar
305225 327258 Benign Familial_renal_hypouricemia . 0.38538 HET Link to ClinVar
305230 327262 Benign Familial_renal_hypouricemia
not_specified		 0.57795 0.38718 HET Link to ClinVar
305233 328343 Benign Familial_renal_hypouricemia
not_specified		 0.57511 0.38598 HET Link to ClinVar
305241 328349 Benign Familial_renal_hypouricemia
not_specified		 . 0.97684 HOM Link to ClinVar
305244 321203 Benign Familial_renal_hypouricemia 0.30331 0.39736 HET Link to ClinVar
129833 135279 Likely_benign not_specified . 0.38179 HET Link to ClinVar
129837 135283 Likely_benign not_specified 0.72432 0.53355 HOM Link to ClinVar
680727 666092 Benign not_provided . . HET Link to ClinVar
668605 665950 Benign not_provided . . HOM Link to ClinVar
259830 254234 Benign not_specified 0.81288 0.65895 HOM Link to ClinVar
259840 254236 Benign not_specified 0.79331 0.61242 HOM Link to ClinVar
134640 138379 Benign not_specified
not_provided		 0.93778 0.83447 HOM Link to ClinVar
167288 177834 Benign not_specified
not_provided		 0.99275 0.97604 HOM Link to ClinVar
96249 102143 Benign/Likely_benign Hyperparathyroidism
Multiple_endocrine_neoplasia,_type_1
Multiple_endocrine_neoplasia
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 0.39335 0.30791 HET Link to ClinVar
305317 321251 Benign/Likely_benign Hyperparathyroidism
Multiple_endocrine_neoplasia
not_specified		 . 0.19728 HET Link to ClinVar
305334 327435 Benign Aicardi_Goutieres_syndrome . 0.82488 HOM Link to ClinVar
402818 390090 Benign not_specified 0.57928 0.42991 HET Link to ClinVar
402819 390063 Benign not_specified . 0.42832 HET Link to ClinVar
39015 47618 Benign Autosomal_recessive_cutis_laxa_type_IA
Cutis_laxa,_recessive
Autosomal_recessive_cutis_laxa_type_1B
not_specified
not_provided		 0.9695 0.89457 HOM Link to ClinVar
305388 327479 Benign Cutis_laxa,_recessive
Autosomal_recessive_cutis_laxa_type_1B		 0.7917 0.62061 HET Link to ClinVar
305400 327485 Benign Nestor-Guillermo_progeria_syndrome . 0.41793 HET Link to ClinVar
305401 314640 Benign Nestor-Guillermo_progeria_syndrome . 0.67692 HOM Link to ClinVar
305419 321354 Likely_benign Male_infertility 0.15605 0.16254 HET Link to ClinVar
305421 321357 Benign Male_infertility 0.97965 0.9365 HOM Link to ClinVar
305433 321362 Likely_benign Male_infertility 0.51855 0.43191 HET Link to ClinVar
770770 701898 Benign not_provided . . HET Link to ClinVar
129869 135315 Likely_benign not_specified 0.17919 0.21106 HET Link to ClinVar
129871 135317 Likely_benign not_specified 0.24239 0.22724 HET Link to ClinVar
129872 135318 Benign History_of_neurodevelopmental_disorder
not_specified		 0.9954 0.98303 HOM Link to ClinVar
260057 254254 Benign not_specified 0.1722 0.13938 HET Link to ClinVar
771747 701922 Benign not_provided . . HET Link to ClinVar
261745 254262 Benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified		 0.58937 0.61282 HET Link to ClinVar
305483 314744 Benign Bardet-Biedl_syndrome . 0.38459 HET Link to ClinVar
259168 254263 Benign Seizures
Ceroid_lipofuscinosis,_neuronal,_13
not_specified
not_provided		 0.53003 0.58906 HET Link to ClinVar
259172 254267 Benign Seizures
Ceroid_lipofuscinosis,_neuronal,_13
not_specified
not_provided		 0.53077 0.58886 HET Link to ClinVar
259169 254270 Benign Seizures
Ceroid_lipofuscinosis,_neuronal,_13
not_specified
not_provided		 . 0.58267 HET Link to ClinVar
259166 254271 Benign Seizures
Ceroid_lipofuscinosis,_neuronal,_13
not_specified
not_provided		 0.48936 0.20787 HET Link to ClinVar
285565 269802 Benign not_specified 0.99688 0.98782 HOM Link to ClinVar
262579 254272 Conflicting_interpretations_of_pathogenicity not_specified
Congenital_Stationary_Night_Blindness,_Recessive		 . . HET Link to ClinVar
305671 328807 Benign Congenital_Stationary_Night_Blindness,_Recessive . 0.28075 HET Link to ClinVar
259205 254275 Benign Hereditary_cancer-predisposing_syndrome
not_specified
Familial_Isolated_Pituitary_Adenomas		 0.95496 0.84545 HOM Link to ClinVar
4893 19932 Conflicting_interpretations_of_pathogenicity Dopamine_agonist_response
Hereditary_cancer-predisposing_syndrome
Pituitary_dependent_hypercortisolism
Somatotroph_adenoma
not_specified
Familial_Isolated_Pituitary_Adenomas
not_provided		 0.00146 . HET Link to ClinVar
259206 254276 Benign Hereditary_cancer-predisposing_syndrome
not_specified
Familial_Isolated_Pituitary_Adenomas		 0.99991 0.9994 HOM Link to ClinVar
683144 665148 Benign not_provided . . HOM Link to ClinVar
683175 665159 Benign not_provided . . HOM Link to ClinVar
683178 666146 Benign not_provided . . HOM Link to ClinVar
305765 328891 Benign Leigh_syndrome
Mitochondrial_complex_I_deficiency		 . 0.96865 HOM Link to ClinVar
235762 237442 Benign not_provided . . HOM Link to ClinVar
235422 237106 Benign not_provided . 0.81969 HET Link to ClinVar
235632 237313 Benign not_specified
not_provided		 0.99275 0.96985 HOM Link to ClinVar
258634 254279 Benign not_specified 0.90006 0.84145 HOM Link to ClinVar
258638 254283 Benign not_specified 0.67548 0.57927 HOM Link to ClinVar
673761 666162 Benign not_provided . . HOM Link to ClinVar
673760 665170 Benign not_provided . . HOM Link to ClinVar
673759 665790 Benign not_provided . . HOM Link to ClinVar
678064 666165 Benign not_provided . . HOM Link to ClinVar
166951 177647 Benign not_specified 0.9313 0.89257 HOM Link to ClinVar
93975 99877 Benign not_specified 0.9375 0.90355 HOM Link to ClinVar
678470 666006 Benign not_provided . . HOM Link to ClinVar
668907 665799 Benign not_provided . . HET Link to ClinVar
258575 254288 Benign Spinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified		 0.75895 0.67512 HOM Link to ClinVar
668744 665800 Benign not_provided . . HET Link to ClinVar
681863 665171 Benign not_provided . . HET Link to ClinVar
668908 666009 Benign not_provided . . HET Link to ClinVar
681878 665811 Benign not_provided . . HET Link to ClinVar
258576 254293 Benign Spinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified		 0.77189 0.68051 HOM Link to ClinVar
681884 665186 Benign not_provided . . HET Link to ClinVar
681886 665187 Benign not_provided . . HET Link to ClinVar
258566 254303 Benign Spinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified		 0.29883 0.24621 HET Link to ClinVar
258570 254306 Benign Spinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified		 0.29885 0.24621 HET Link to ClinVar
681879 666016 Benign not_provided . . HET Link to ClinVar
194368 191531 Benign Spinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified
Autosomal_dominant_distal_hereditary_motor_neuropathy		 . 0.19709 HET Link to ClinVar
637890 625259 Benign not_specified . . HET Link to ClinVar
681881 666017 Benign not_provided . . HET Link to ClinVar
681882 665189 Benign not_provided . . HET Link to ClinVar
681883 665823 Benign not_provided . . HET Link to ClinVar
305868 321822 Benign Spinal_muscular_atrophy . 0.67093 HOM Link to ClinVar
305872 315023 Benign Spinal_muscular_atrophy . 0.19669 HET Link to ClinVar
727 15766 association Skin/hair/eye_pigmentation,_variation_in,_10 . 0.09964 HET Link to ClinVar
13755 28794 risk_factor VON_HIPPEL-LINDAU_SYNDROME,_MODIFIER_OF
Colorectal_cancer,_susceptibility_to
Multiple_myeloma,_translocation_11,14_type		 0.45513 0.41354 HOM Link to ClinVar
305881 327887 Likely_benign Autism_spectrum_disorder . . HOM Link to ClinVar
305889 315045 Likely_benign Autism_spectrum_disorder . . HET Link to ClinVar
305931 321887 Likely_benign Autism_spectrum_disorder . 0.74681 HOM Link to ClinVar
305936 315071 Benign Smith-Lemli-Opitz_syndrome . 0.77356 HOM Link to ClinVar
305940 329056 Benign Smith-Lemli-Opitz_syndrome . 0.74361 HOM Link to ClinVar
305949 329073 Uncertain_significance Smith-Lemli-Opitz_syndrome . 0.00439 HET Link to ClinVar
93707 99610 Benign Smith-Lemli-Opitz_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.85312 0.75639 HOM Link to ClinVar
673331 665829 Benign not_provided . . HOM Link to ClinVar
679282 666173 Benign not_provided . . HOM Link to ClinVar
93719 99622 Benign Smith-Lemli-Opitz_syndrome
History_of_neurodevelopmental_disorder
not_specified		 . 0.80731 HOM Link to ClinVar
679281 665194 Benign not_provided . . HOM Link to ClinVar
93715 99618 Benign Smith-Lemli-Opitz_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.8755 0.8101 HOM Link to ClinVar
93713 99616 Benign/Likely_benign Smith-Lemli-Opitz_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.57185 0.40096 HOM Link to ClinVar
667656 666175 Benign not_provided . . HOM Link to ClinVar
305969 327973 Likely_benign Smith-Lemli-Opitz_syndrome . 0.35344 HOM Link to ClinVar
683470 665207 Benign not_provided . . HOM Link to ClinVar
306034 315142 Likely_benign Brugada_syndrome . 0.59605 HOM Link to ClinVar
306035 329246 Likely_benign Brugada_syndrome . 0.42472 HET Link to ClinVar
306045 328028 Likely_benign Brugada_syndrome . 0.59565 HET Link to ClinVar
306046 321937 Likely_benign Brugada_syndrome . 0.56709 HET Link to ClinVar
306063 329302 Uncertain_significance Brugada_syndrome . . HET Link to ClinVar
306066 328059 Likely_benign Brugada_syndrome . 0.56669 HET Link to ClinVar
5541 20580 Conflicting_interpretations_of_pathogenicity Ventricular_fibrillation
Syncope
Cardiomyopathy
Periodic_paralysis
Brugada_syndrome_6
ENCEPHALOPATHY,_NEONATAL_SEVERE,_WITH_LACTIC_ACIDOSIS_AND_BRAIN_ABNORMALITIES
not_specified
Cardiovascular_phenotype
not_provided		 0.00297 0.001 HET Link to ClinVar
683555 666203 Benign not_provided . . HOM Link to ClinVar
195141 192302 Benign not_specified
Osteogenesis_Imperfecta,_Recessive		 0.89952 0.88998 HET Link to ClinVar
306105 315181 Benign not_specified
Osteogenesis_Imperfecta,_Recessive		 0.43999 0.29932 HET Link to ClinVar
667595 666211 Benign not_provided . . HET Link to ClinVar
667596 666214 Benign not_provided . . HET Link to ClinVar
306115 328131 Benign Osteogenesis_Imperfecta,_Recessive . 0.2478 HET Link to ClinVar
259225 254323 Benign not_specified 0.31375 0.35543 HET Link to ClinVar
43258 52428 Benign Usher_syndrome,_type_1
Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
not_provided		 . 0.51358 HET Link to ClinVar
43343 52513 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.47404 HET Link to ClinVar
680660 665243 Benign not_provided . . HET Link to ClinVar
678821 666050 Benign not_provided . . HOM Link to ClinVar
680661 666223 Benign not_provided . . HOM Link to ClinVar
670353 666240 Benign not_provided . . HOM Link to ClinVar
680664 666056 Benign not_provided . . HET Link to ClinVar
678822 665244 Benign not_provided . . HET Link to ClinVar
680662 666061 Benign not_provided . . HOM Link to ClinVar
678823 666242 Benign not_provided . . HET Link to ClinVar
255661 254327 Benign not_specified
not_provided		 0.5432 0.48562 HET Link to ClinVar
678824 666248 Benign not_provided . . HET Link to ClinVar
670355 666255 Benign not_provided . . HET Link to ClinVar
678825 666068 Benign not_provided . . HET Link to ClinVar
680663 665245 Benign not_provided . . HET Link to ClinVar
678826 666070 Benign not_provided . . HET Link to ClinVar
678827 665840 Benign not_provided . . HET Link to ClinVar
670356 666071 Benign not_provided . . HET Link to ClinVar
670357 666073 Benign not_provided . . HET Link to ClinVar
678829 666262 Benign not_provided . . HET Link to ClinVar
255662 254328 Benign not_specified
not_provided		 . 0.55511 HET Link to ClinVar
680668 665847 Benign not_provided . . HET Link to ClinVar
678830 665248 Benign not_provided . . HET Link to ClinVar
670359 666076 Benign not_provided . . HET Link to ClinVar
678831 666267 Benign not_provided . . HET Link to ClinVar
670360 665848 Benign not_provided . . HET Link to ClinVar
43226 52396 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.53761 0.46845 HET Link to ClinVar
670361 665852 Benign not_provided . . HET Link to ClinVar
678832 666272 Benign not_provided . . HOM Link to ClinVar
678833 666078 Benign not_provided . . HET Link to ClinVar
670377 665250 Benign not_provided . . HET Link to ClinVar
255663 254329 Benign not_specified
not_provided		 0.56449 0.54533 HET Link to ClinVar
670379 665252 Benign not_provided . . HET Link to ClinVar
673900 665854 Benign not_provided . . HET Link to ClinVar
673901 665856 Benign not_provided . . HET Link to ClinVar
673902 666274 Benign not_provided . . HET Link to ClinVar
680669 665258 Benign not_provided . . HET Link to ClinVar
43257 52427 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.50829 0.43251 HET Link to ClinVar
43269 52439 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.54399 0.55172 HET Link to ClinVar
678835 665861 Benign not_provided . . HET Link to ClinVar
670381 665872 Benign not_provided . . HET Link to ClinVar
678838 665262 Benign not_provided . . HET Link to ClinVar
670382 665877 Benign not_provided . . HET Link to ClinVar
43296 52466 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.52321 0.55491 HET Link to ClinVar
680670 665878 Benign not_provided . . HET Link to ClinVar
43297 52467 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.63298 0.59345 HET Link to ClinVar
255664 254330 Benign not_specified
not_provided		 0.53913 0.51298 HET Link to ClinVar
43303 52473 Benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.5675 0.51298 HET Link to ClinVar
43304 52474 Benign Deafness,_autosomal_recessive_2
Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.499 HET Link to ClinVar
674387 666080 Benign not_provided . . HET Link to ClinVar
674388 665881 Benign not_provided . . HET Link to ClinVar
43315 52485 Benign not_specified 0.54452 0.51298 HET Link to ClinVar
678839 665263 Benign not_provided . . HET Link to ClinVar
678840 666083 Benign not_provided . . HET Link to ClinVar
678841 666087 Benign not_provided . . HET Link to ClinVar
680671 666279 Benign not_provided . . HET Link to ClinVar
43323 52493 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
not_provided		 0.02673 0.01597 HET Link to ClinVar
43324 52494 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.18056 0.19569 HET Link to ClinVar
255665 254331 Benign not_specified
not_provided		 0.90448 0.80771 HOM Link to ClinVar
43332 52502 Benign not_specified 0.20005 0.11102 HET Link to ClinVar
670385 665884 Benign not_provided . . HOM Link to ClinVar
680675 666287 Benign not_provided . . HOM Link to ClinVar
306210 315259 Likely_benign Retinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.03395 HET Link to ClinVar
96088 101982 Benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1H
not_specified		 0.83191 0.83267 HOM Link to ClinVar
261683 254333 Benign not_specified 0.19526 0.25859 HET Link to ClinVar
261684 254334 Benign not_specified 0.19471 0.25839 HET Link to ClinVar
261682 254335 Benign not_specified 0.22537 0.25879 HET Link to ClinVar
96092 101986 Benign/Likely_benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1H
not_specified		 0.19908 0.14637 HET Link to ClinVar
261680 254337 Benign not_specified 0.99999 1 HOM Link to ClinVar
667638 665895 Benign not_provided . . HOM Link to ClinVar
682659 666301 Benign not_provided . . HOM Link to ClinVar
682658 665276 Benign not_provided . . HOM Link to ClinVar
380001 371732 Benign not_specified 0.71624 0.65056 HOM Link to ClinVar
380000 372457 Benign Combined_oxidative_phosphorylation_deficiency_24
not_specified		 0.73817 0.71006 HOM Link to ClinVar
682656 666099 Benign not_provided . . HOM Link to ClinVar
379999 372729 Benign not_specified . 0.60843 HOM Link to ClinVar
671602 666324 Benign not_provided . . HET Link to ClinVar
684192 666328 Benign not_provided . . HOM Link to ClinVar
671603 666122 Benign not_provided . . HET Link to ClinVar
671604 665901 Benign not_provided . . HET Link to ClinVar
215269 211570 Benign not_specified
Optic_Atrophy,_Recessive		 . . HET Link to ClinVar
676442 666342 Benign not_provided . . HET Link to ClinVar
262022 254360 Benign not_specified
Optic_Atrophy,_Recessive
not_provided		 0.28538 0.376 HET Link to ClinVar
403297 390064 Benign not_specified . 0.6228 HET Link to ClinVar
403298 390024 Benign not_specified . 0.23203 HET Link to ClinVar
403299 390092 Benign not_specified 0.78612 0.78874 HOM Link to ClinVar
306335 328331 Benign Familial_exudative_vitreoretinopathy . 0.50998 HOM Link to ClinVar
306350 315395 Uncertain_significance Familial_exudative_vitreoretinopathy . . . Link to ClinVar
306365 315414 Benign Familial_exudative_vitreoretinopathy . 0.19309 HET Link to ClinVar
306385 315440 Benign Familial_exudative_vitreoretinopathy . 0.70367 HOM Link to ClinVar
258191 254362 Benign not_specified . 0.93011 HET Link to ClinVar
402572 389960 Benign not_specified 0.88608 0.93091 HET Link to ClinVar
3783 18822 Benign Tyrosinase-negative_oculocutaneous_albinism
not_provided		 . 0.1859 HET Link to ClinVar
3779 18818 Conflicting_interpretations_of_pathogenicity Albinism
Abnormality_of_metabolism/homeostasis
Elevated_hepatic_transaminases
Hypoplasia_of_the_fovea
Slow_decrease_in_visual_acuity
Choroidal_neovascularization
Oculocutaneous_albinism
Autosomal_recessive_ocular_albinism
Oculocutaneous_albinism_type_1B
Oculocutaneous_albinism_type_1,_temperature_sensitive
Skin/hair/eye_pigmentation,_variation_in,_3
Skin/hair/eye_pigmentation_3,_blue/green_eyes
Cutaneous_malignant_melanoma_8
Tyrosinase-negative_oculocutaneous_albinism
not_specified
not_provided		 0.17697 0.08127 HET Link to ClinVar
3777 18816 Pathogenic/Likely_pathogenic Inborn_genetic_diseases
Oculocutaneous_albinism
Oculocutaneous_albinism_type_1B
Albinism,_ocular,_with_sensorineural_deafness
Skin/hair/eye_pigmentation,_variation_in,_3
Tyrosinase-negative_oculocutaneous_albinism
not_provided		 0.00349 0.002 HET Link to ClinVar
518245 508868 Benign Microcephaly,_postnatal_progressive,_with_seizures_and_brain_atrophy . 0.93311 HOM Link to ClinVar
129597 135043 Benign Microcephaly,_postnatal_progressive,_with_seizures_and_brain_atrophy
not_specified		 0.11853 0.11322 HET Link to ClinVar
306450 315480 Benign Ataxia-telangiectasia-like_disorder_1 . 0.23423 HET Link to ClinVar
193884 191047 Benign Ataxia-telangiectasia-like_disorder_1
not_specified
not_provided		 0.37831 0.38878 HET Link to ClinVar
129623 135069 Benign Ataxia-telangiectasia-like_disorder_1
not_specified
not_provided		 0.32523 0.3131 HET Link to ClinVar
259798 254368 Benign not_specified . 0.45727 HET Link to ClinVar
403103 390028 Benign not_specified 0.54109 0.54752 HET Link to ClinVar
802713 791184 Benign Mosaic_variegated_aneuploidy_syndrome_2 . . HET Link to ClinVar
306505 329846 Likely_benign Charcot-Marie-Tooth_disease_type_4 . 0.02017 HET Link to ClinVar
306506 315510 Benign Charcot-Marie-Tooth_disease_type_4 . 0.20347 HET Link to ClinVar
306511 315515 Benign Charcot-Marie-Tooth_disease_type_4 . 0.20248 HET Link to ClinVar
306514 328558 Benign Charcot-Marie-Tooth_disease_type_4 . 0.20347 HET Link to ClinVar
306527 328580 Benign Charcot-Marie-Tooth_disease_type_4 . 0.20208 HET Link to ClinVar
683220 665290 Benign not_provided . . HET Link to ClinVar
683218 666350 Benign not_provided . . HET Link to ClinVar
683219 665292 Benign not_provided . . HET Link to ClinVar
668751 665907 Benign not_provided . . HET Link to ClinVar
683217 666355 Benign not_provided . . HET Link to ClinVar
260685 254369 Benign Charcot-Marie-Tooth_disease,_type_4B1
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.29799 0.20927 HET Link to ClinVar
683215 665294 Benign not_provided . . HET Link to ClinVar
684384 665928 Benign not_provided . . HET Link to ClinVar
673447 666372 Benign not_provided . . HET Link to ClinVar
683213 666132 Benign not_provided . . HET Link to ClinVar
260686 254370 Benign Charcot-Marie-Tooth_disease,_type_4B1
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 . 0.21286 HET Link to ClinVar
768471 702050 Benign not_provided . . HET Link to ClinVar
301884 312031 Benign Focal_segmental_glomerulosclerosis . . HOM Link to ClinVar
162146 171859 not_provided not_provided . 0.1266 HET Link to ClinVar
259539 253985 Benign not_specified
Amelogenesis_Imperfecta,_Recessive		 . 0.67652 HET Link to ClinVar
403099 389935 Benign not_specified 0.54235 0.60004 HET Link to ClinVar
403100 389939 Benign not_specified 0.59715 0.65435 HET Link to ClinVar
403092 389957 Benign not_specified 0.93036 0.93131 HET Link to ClinVar
403093 389961 Benign not_specified 0.05837 0.07228 HET Link to ClinVar
802715 791023 Benign Preterm_premature_rupture_of_membranes . . . Link to ClinVar
667691 665391 Benign not_provided . . HOM Link to ClinVar
302018 312103 Benign/Likely_benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided		 0.04314 0.04153 HET Link to ClinVar
667693 665389 Benign not_provided . . HOM Link to ClinVar
667694 664787 Benign not_provided . . HOM Link to ClinVar
669444 665661 Benign not_provided . . HET Link to ClinVar
669446 665396 Benign not_provided . . HET Link to ClinVar
196009 193170 Benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly
not_specified
not_provided		 0.71263 0.66833 HET Link to ClinVar
379420 371669 Benign not_specified
not_provided		 0.02095 0.01458 HET Link to ClinVar
302040 312117 Conflicting_interpretations_of_pathogenicity Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_provided		 0.0003 . HET Link to ClinVar
667695 665407 Benign not_provided . . HET Link to ClinVar
667714 665664 Benign not_provided . . HET Link to ClinVar
674031 665409 Benign not_provided . . HET Link to ClinVar
167011 177681 Benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided		 0.91783 0.93131 HOM Link to ClinVar
667716 665665 Benign not_provided . . HOM Link to ClinVar
302056 312136 Benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided		 . 0.57149 HET Link to ClinVar
667717 665411 Benign not_provided . . HOM Link to ClinVar
93529 99434 Benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided		 0.63296 0.61701 HET Link to ClinVar
667718 664814 Benign not_provided . . HOM Link to ClinVar
667719 665461 Benign not_provided . . HET Link to ClinVar
667720 664817 Benign not_provided . . HET Link to ClinVar
669450 665687 Benign not_provided . . HET Link to ClinVar
669451 665422 Benign not_provided . . HET Link to ClinVar
667721 665425 Benign not_provided . . HOM Link to ClinVar
667722 665434 Benign not_provided . . HOM Link to ClinVar
667723 664819 Benign not_provided . . HOM Link to ClinVar
302073 317856 Benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly
not_specified
not_provided		 0.78735 0.73842 HOM Link to ClinVar
667724 665690 Benign not_provided . . HET Link to ClinVar
667725 665696 Benign not_provided . . HOM Link to ClinVar
667726 665699 Benign not_provided . . HOM Link to ClinVar
667727 664820 Benign not_provided . . HOM Link to ClinVar
667728 665700 Benign not_provided . . HOM Link to ClinVar
667746 665468 Benign not_provided . . HOM Link to ClinVar
667747 665441 Benign not_provided . . HOM Link to ClinVar
667748 665473 Benign not_provided . . HET Link to ClinVar
669452 665444 Benign not_provided . . HOM Link to ClinVar
667751 665477 Benign not_provided . . HET Link to ClinVar
93527 99432 Benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified		 0.37645 0.42931 HET Link to ClinVar
667752 665467 Benign not_provided . . HET Link to ClinVar
669456 665475 Benign not_provided . . HET Link to ClinVar
667755 665720 Benign not_provided . . HET Link to ClinVar
669457 665481 Benign not_provided . . HET Link to ClinVar
667756 665486 Benign not_provided . . HOM Link to ClinVar
669922 665488 Benign not_provided . . HET Link to ClinVar
667759 665491 Benign not_provided . . HET Link to ClinVar
669923 665726 Benign not_provided . . HET Link to ClinVar
93528 99433 Benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified		 . 0.13359 HET Link to ClinVar
667776 665730 Benign not_provided . . HET Link to ClinVar
667786 664847 Benign not_provided . . HOM Link to ClinVar
667788 665747 Benign not_provided . . HOM Link to ClinVar
302117 317899 Benign Short_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided		 0.65891 0.49501 HOM Link to ClinVar
667790 665754 Benign not_provided . . HOM Link to ClinVar
669930 664854 Benign not_provided . . HOM Link to ClinVar
667808 664858 Benign not_provided . . HOM Link to ClinVar
226013 227832 drug_response Platinum_compounds_response_-_Toxicity/ADR
etoposide_response_-_Toxicity/ADR		 . 0.4371 HOM Link to ClinVar
402491 389897 Benign not_specified 0.99939 0.9976 HOM Link to ClinVar
2171 17210 Likely_benign Sepsis,_susceptibility_to
not_specified		 0.98562 0.94848 HOM Link to ClinVar
632624 621797 Benign not_specified . . HOM Link to ClinVar
302240 318028 Benign Ataxia-telangiectasia_syndrome
not_provided		 . 0.47604 HOM Link to ClinVar
181847 180398 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome . . . Link to ClinVar
439418 433369 Benign Ataxia-telangiectasia_syndrome . 0.65256 HOM Link to ClinVar
181857 180439 Benign/Likely_benign Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 . . HET Link to ClinVar
181858 180443 Benign/Likely_benign Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified		 . . HOM Link to ClinVar
489536 482779 Benign Hereditary_cancer-predisposing_syndrome . 0.51158 HOM Link to ClinVar
516633 503053 Benign not_specified
not_provided		 . 0.51178 HOM Link to ClinVar
128458 133907 Benign/Likely_benign Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 0.11014 0.06689 HET Link to ClinVar
133627 137366 Benign not_specified
not_provided		 1 1 HOM Link to ClinVar
632649 621801 Benign not_specified . 0.53494 HOM Link to ClinVar
633055 621803 Benign not_specified . . HOM Link to ClinVar
302265 324952 Benign Ataxia-telangiectasia_syndrome . 0.51837 HOM Link to ClinVar
302272 324093 Benign Ataxia-telangiectasia_syndrome . 0.51817 HOM Link to ClinVar
302285 312262 Uncertain_significance Ataxia-telangiectasia_syndrome . . HET Link to ClinVar
302299 324138 Benign Ataxia-telangiectasia_syndrome . 0.53455 HOM Link to ClinVar
225942 227817 drug_response metformin_response_-_Efficacy . 0.46845 HOM Link to ClinVar
302333 318158 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . HET Link to ClinVar
302379 318212 Likely_benign Congenital_disorder_of_glycosylation . . HOM Link to ClinVar
302382 325030 Uncertain_significance Congenital_disorder_of_glycosylation . . HET Link to ClinVar
302385 324294 Uncertain_significance Congenital_disorder_of_glycosylation . . HET Link to ClinVar
672477 665558 Benign not_provided . . HOM Link to ClinVar
44234 53401 Benign Posterior_polar_cataract
Alpha-B_crystallinopathy
not_specified
Cardiovascular_phenotype
Myofibrillar_Myopathy,_Dominant		 . 0.23982 HOM Link to ClinVar
680264 665554 Benign not_provided . . HOM Link to ClinVar
683732 665556 Benign not_provided . . HOM Link to ClinVar
44648 53815 Benign Pheochromocytoma
not_specified		 . 0.9361 HOM Link to ClinVar
198436 195597 Benign/Likely_benign not_specified 0.41577 0.24401 HET Link to ClinVar
256814 253992 Benign not_specified 0.64111 0.52656 HET Link to ClinVar
256813 253993 Benign Dystonia
not_specified		 0.02641 0.03175 HET Link to ClinVar
225963 227820 drug_response not_specified
risperidone_response_-_Efficacy		 . 0.11901 HET Link to ClinVar
508109 503143 Benign not_specified 0.6959 0.77017 HOM Link to ClinVar
508108 504043 Benign not_specified 0.69614 0.77017 HOM Link to ClinVar
508146 503152 Benign not_specified 0.09012 0.08946 HET Link to ClinVar
508107 503712 Benign not_specified 0.73157 0.77077 HOM Link to ClinVar
508106 503716 Benign not_specified 0.34307 0.21386 HET Link to ClinVar
777860 701564 Likely_benign not_provided . . HET Link to ClinVar
127141 132639 risk_factor Hypertriglyceridemia,_susceptibility_to . 0.8742 HOM Link to ClinVar
496495 487403 Benign not_provided 0.10972 0.09066 HET Link to ClinVar
4403 19442 risk_factor Hypertriglyceridemia,_susceptibility_to . 0.05571 HET Link to ClinVar
548114 538603 drug_response lovastatin_response_-_Efficacy
atorvastatin_response_-_Efficacy
simvastatin_response_-_Efficacy		 . 0.83706 HOM Link to ClinVar
518235 508859 Benign Hyperalphalipoproteinemia_2
not_provided		 0.6542 0.59705 HET Link to ClinVar
260475 253998 Benign not_specified 0.91239 0.90136 HET Link to ClinVar
260483 254004 Benign not_specified 0.55186 0.52736 HET Link to ClinVar
260485 254006 Benign not_specified 0.48519 0.46326 HET Link to ClinVar
260490 254011 Benign not_specified 0.9383 0.90835 HET Link to ClinVar
302515 318307 Benign Renal_Hypomagnesemia,_Dominant . 0.19289 HET Link to ClinVar
302546 318326 Benign Inflammatory_bowel_disease
not_specified		 0.52734 0.51677 HOM Link to ClinVar
302554 318357 Benign Inflammatory_bowel_disease
not_specified		 0.73814 0.8111 HOM Link to ClinVar
302580 318366 Benign Inflammatory_bowel_disease 0.50202 0.5597 HOM Link to ClinVar
302584 324524 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 0.00787 0.002 HET Link to ClinVar
302585 324528 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 0.6682 0.64078 HET Link to ClinVar
302591 312473 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 0.2334 0.15955 HET Link to ClinVar
302594 318395 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 0.23128 0.15735 HET Link to ClinVar
302604 312477 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 0.23196 0.15934 HET Link to ClinVar
302615 312485 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 0.43375 0.41973 HET Link to ClinVar
302629 312495 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 0.29127 0.28474 HET Link to ClinVar
302635 318464 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome		 0.65817 0.61621 HET Link to ClinVar
671916 665565 Benign not_provided . . HET Link to ClinVar
671915 665604 Benign not_provided . . HET Link to ClinVar
671914 665568 Benign not_provided . . HET Link to ClinVar
403419 389847 Benign not_specified
not_provided		 0.68198 0.6849 HET Link to ClinVar
259446 254012 Benign not_specified 0.50219 0.51438 HOM Link to ClinVar
518236 508860 Benign Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-positive,_NK_cell-positive 0.67521 0.6258 HOM Link to ClinVar
302678 312525 Benign/Likely_benign Immunodeficiency_due_to_defect_in_CD3-gamma
Severe_Combined_Immune_Deficiency		 . . HET Link to ClinVar
474799 460944 Benign not_provided . . HET Link to ClinVar
302688 318503 Likely_benign Immunodeficiency_due_to_defect_in_CD3-gamma . 0.07208 HET Link to ClinVar
302693 324614 Likely_benign Immunodeficiency_due_to_defect_in_CD3-gamma . 0.29772 HET Link to ClinVar
768489 701599 Benign not_provided . . HOM Link to ClinVar
377170 364048 Likely_benign not_provided 0.00714 0.0016 HET Link to ClinVar
402412 389959 Benign not_specified 0.42462 0.44409 HET Link to ClinVar
302701 318535 Benign Glycogen_storage_disease,_type_I . 0.28355 HET Link to ClinVar
139192 142895 Benign not_specified 0.21875 0.2478 HET Link to ClinVar
139190 142893 Benign not_specified 0.10566 0.07748 HET Link to ClinVar
801370 789809 Benign not_provided . . HOM Link to ClinVar
779603 779515 Benign not_provided . . HET Link to ClinVar
302718 325405 Benign Glycogen_storage_disease,_type_I . 0.84964 HOM Link to ClinVar
255487 254014 Benign Acute_intermittent_porphyria
not_specified		 0.55806 0.57288 HOM Link to ClinVar
255486 254016 Benign Acute_intermittent_porphyria
not_specified		 . 0.3147 HET Link to ClinVar
561493 552641 Benign not_provided . 0.98722 HOM Link to ClinVar
55796 70452 Benign Noonan_syndrome-like_disorder_with_or_without_juvenile_myelomonocytic_leukemia
Rasopathy
not_specified
not_provided		 0.60112 0.72863 HET Link to ClinVar
302792 324752 Benign Noonan-Like_Syndrome_Disorder . . HET Link to ClinVar
302818 312630 Benign Noonan-Like_Syndrome_Disorder . 0.21925 HET Link to ClinVar
302829 325571 Likely_benign Noonan-Like_Syndrome_Disorder . 0.00739 HET Link to ClinVar
302852 318699 Benign Noonan-Like_Syndrome_Disorder . 0.39677 HET Link to ClinVar
302858 312665 Benign Noonan-Like_Syndrome_Disorder . 0.9994 HOM Link to ClinVar
302901 318734 Benign Noonan-Like_Syndrome_Disorder . 0.23243 HET Link to ClinVar
302902 324826 Benign Noonan-Like_Syndrome_Disorder . 0.41214 HET Link to ClinVar
198596 195757 Conflicting_interpretations_of_pathogenicity Retinal_degeneration
Microphthalmia,_isolated_6
not_specified
not_provided		 0.00282 0.002 HET Link to ClinVar
167297 177837 Benign/Likely_benign Retinal_degeneration
Microphthalmia,_isolated_6
not_specified		 . 0.90196 HOM Link to ClinVar
143157 152875 Benign/Likely_benign Retinal_degeneration
Microphthalmia,_isolated_6
not_specified
not_provided		 . 0.20148 HET Link to ClinVar
167299 177134 Benign/Likely_benign Retinal_degeneration
Microphthalmia,_isolated_6
not_specified		 0.26636 0.18211 HET Link to ClinVar
302982 325780 Likely_benign Retinal_degeneration
Microphthalmia,_isolated_6		 0.59509 0.63558 HET Link to ClinVar
302987 324926 Likely_benign Retinal_degeneration
Microphthalmia,_isolated_6		 . 0.58387 HET Link to ClinVar
802808 791116 Benign Cleft_lip/palate-ectodermal_dysplasia_syndrome . . HOM Link to ClinVar
225967 227821 drug_response not_specified
antidepressants_response_-_Efficacy		 . 0.5022 HET Link to ClinVar
45315 54482 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.71165 0.77217 HET Link to ClinVar
45319 54486 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.30875 0.3103 HET Link to ClinVar
45323 54490 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.7041 0.7514 HET Link to ClinVar
45336 54503 Benign Deafness,_autosomal_dominant_12
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.99267 0.99681 HOM Link to ClinVar
45338 54505 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 0.16896 0.1853 HET Link to ClinVar
303057 312876 Benign Lathosterolosis . 0.72464 HOM Link to ClinVar
303070 318905 Benign Lathosterolosis . 0.42213 HET Link to ClinVar
303099 325089 Benign Lathosterolosis . 0.15695 HET Link to ClinVar
303108 318954 Benign Lathosterolosis . 0.39337 HET Link to ClinVar
671838 664951 Benign not_provided . . HOM Link to ClinVar
670950 665579 Benign not_provided . . HOM Link to ClinVar
671837 664953 Benign not_provided . . HOM Link to ClinVar
261028 254022 Benign/Likely_benign Brugada_syndrome
not_specified
Cardiovascular_phenotype
not_provided		 0.0896 0.08207 HET Link to ClinVar
674316 664964 Likely_benign not_provided . . HET Link to ClinVar
768493 701641 Benign not_provided . . HOM Link to ClinVar
303262 326080 Benign Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1 0.67853 0.63199 HOM Link to ClinVar
303279 325249 Benign Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1 . . HET Link to ClinVar
303289 313075 Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts . . HET Link to ClinVar
303295 326092 Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts 0.73712 0.79892 HOM Link to ClinVar
303319 326109 Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts . 0.1885 HET Link to ClinVar
262682 254025 Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts
not_specified		 0.10635 0.14297 HET Link to ClinVar
262681 254026 Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts
not_specified		 0.72861 0.79393 HOM Link to ClinVar
262680 254027 Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts
not_specified		 . 0.13598 HET Link to ClinVar
387269 372271 Likely_benign not_specified . . HET Link to ClinVar
380012 372052 Benign not_specified 0.0745 0.10463 HET Link to ClinVar
380013 372273 Benign not_specified 0.05993 0.05831 HET Link to ClinVar
380014 373936 Benign not_specified . 0.10363 HET Link to ClinVar
380015 372061 Benign not_specified 0.3694 0.41933 HOM Link to ClinVar
380031 373938 Benign not_specified 0.29628 0.30831 HET Link to ClinVar
380016 373944 Benign not_specified 0.05981 0.05751 HET Link to ClinVar
380017 372289 Benign not_specified 0.07629 0.11122 HET Link to ClinVar
496139 487497 Benign not_provided 0.9726 0.98582 HOM Link to ClinVar
303347 319169 Benign Hydrolethalus_syndrome . 0.85443 HOM Link to ClinVar
303351 313115 Benign Hydrolethalus_syndrome . . HOM Link to ClinVar
303368 319178 Benign Hydrolethalus_syndrome . 0.16913 HET Link to ClinVar
368942 353171 Benign Holoprosencephaly_sequence . 0.4972 HOM Link to ClinVar
303374 326221 Likely_benign Holoprosencephaly_sequence . 0.24022 HET Link to ClinVar
303378 313133 Benign Holoprosencephaly_sequence . 0.27256 HOM Link to ClinVar
303379 325340 Likely_benign Holoprosencephaly_sequence . 0.03255 HET Link to ClinVar
303397 326250 Benign Holoprosencephaly_sequence . 0.50559 HOM Link to ClinVar
303400 313146 Benign Holoprosencephaly_sequence . 0.51857 HET Link to ClinVar
303450 325385 Benign Holoprosencephaly_sequence . 0.49501 HET Link to ClinVar
303481 326386 Uncertain_significance Holoprosencephaly_sequence . . HET Link to ClinVar
303488 319273 Likely_benign Holoprosencephaly_sequence . 0.24241 HET Link to ClinVar
260799 254031 Benign Holoprosencephaly_sequence
Holoprosencephaly_1
not_specified		 0.73099 . HOM Link to ClinVar
260797 254033 Benign Holoprosencephaly_sequence
not_specified		 . 0.24221 HET Link to ClinVar
260793 254035 Benign Holoprosencephaly_sequence
not_specified		 0.41429 0.39956 HET Link to ClinVar
260792 254036 Benign Holoprosencephaly_sequence
not_specified		 0.25817 0.26817 HET Link to ClinVar
260791 254037 Benign Holoprosencephaly_sequence
not_specified		 . 0.26757 HET Link to ClinVar
260788 254040 Benign not_specified 0.32745 0.3121 HOM Link to ClinVar
260786 254042 Benign not_specified . 0.94149 HOM Link to ClinVar
260784 254044 Benign Holoprosencephaly_sequence
not_specified		 0.31269 0.30252 HET Link to ClinVar
193724 190887 Conflicting_interpretations_of_pathogenicity Holoprosencephaly_sequence
not_provided		 0.00062 . HET Link to ClinVar
303517 319328 Uncertain_significance Holoprosencephaly_sequence . . HET Link to ClinVar
260794 254054 Benign not_specified . . HET Link to ClinVar
95753 101650 Benign/Likely_benign Holoprosencephaly_sequence
Holoprosencephaly_11
not_specified		 0.03712 0.02636 HET Link to ClinVar
95752 101649 Benign Holoprosencephaly_sequence
not_specified		 0.55732 0.57228 HET Link to ClinVar
303532 313196 Benign Mitochondrial_complex_I_deficiency
not_provided		 0.78907 0.78614 HOM Link to ClinVar
678089 665832 Benign not_provided . . HOM Link to ClinVar
303547 313203 Likely_benign Mitochondrial_complex_I_deficiency . 0.13139 HET Link to ClinVar
257673 254057 Benign not_specified 0.31618 0.34625 HET Link to ClinVar
257674 254058 Benign not_specified 0.31395 0.34485 HET Link to ClinVar
129425 134871 Likely_benign not_specified 0.67128 0.70367 HET Link to ClinVar
129427 134873 Likely_benign not_specified 0.27042 0.22484 HET Link to ClinVar
303553 325499 Benign Antenatal_Bartter_Syndrome . 0.16434 HET Link to ClinVar
303554 313219 Benign Antenatal_Bartter_Syndrome . 0.15735 HET Link to ClinVar
303556 313220 Benign Antenatal_Bartter_Syndrome . 0.16653 HET Link to ClinVar
303561 313240 Benign Antenatal_Bartter_Syndrome . . HET Link to ClinVar
303567 326461 Benign Antenatal_Bartter_Syndrome . 0.16653 HET Link to ClinVar
137990 141693 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
Cardiovascular_phenotype
not_provided		 0.84356 0.86981 HOM Link to ClinVar
137991 141694 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
Cardiovascular_phenotype
not_provided		 0.84144 0.86621 HOM Link to ClinVar
137992 141695 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
Cardiovascular_phenotype
not_provided		 0.84159 0.86701 HOM Link to ClinVar
137993 141696 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
Cardiovascular_phenotype
not_provided		 0.98648 0.99501 HOM Link to ClinVar
672206 665653 Benign not_provided . . HOM Link to ClinVar
137995 141698 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
not_provided		 0.7346 0.73582 HOM Link to ClinVar
303640 325560 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism		 . . HOM Link to ClinVar
303641 313305 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism		 . 0.8752 HOM Link to ClinVar
303648 313312 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism		 . 0.15595 HOM Link to ClinVar
303649 325562 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism		 . 0.73542 HOM Link to ClinVar
303652 326565 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism		 . 0.85423 HOM Link to ClinVar
303660 326575 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism		 . 0.68231 HOM Link to ClinVar
303668 319444 Benign Romano-Ward_syndrome
Familial_hyperaldosteronism		 . 0.73982 HOM Link to ClinVar
776679 701660 Benign not_provided . . HET Link to ClinVar
518237 508861 Benign Ichthyosis,_congenital,_autosomal_recessive_11 0.84327 0.83287 HET Link to ClinVar
518238 508862 Benign Ichthyosis,_congenital,_autosomal_recessive_11 0.69045 0.63898 HET Link to ClinVar
310533 318492 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
not_provided		 . 0.33986 HOM Link to ClinVar
261069 254719 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified		 0.99239 0.97564 HOM Link to ClinVar
137927 141630 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
not_specified
not_provided		 0.16333 0.07448 HET Link to ClinVar
670589 666857 Benign not_provided . . HOM Link to ClinVar
670590 666860 Benign not_provided . . HOM Link to ClinVar
681290 667225 Benign not_provided . . HOM Link to ClinVar
261066 254728 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified		 0.74509 0.69349 HOM Link to ClinVar
670303 667226 Benign not_provided . . HOM Link to ClinVar
670304 666864 Benign not_provided . . HOM Link to ClinVar
137922 141625 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
not_specified		 0.14923 0.09345 HOM Link to ClinVar
137923 141626 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified		 0.14876 0.09345 HOM Link to ClinVar
261067 254731 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified		 . 0.67951 HOM Link to ClinVar
218533 215458 Benign not_specified
not_provided		 . . HOM Link to ClinVar
538531 527667 Benign Pseudohypoaldosteronism_type_2C
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_provided		 . 0.52895 HOM Link to ClinVar
137926 141629 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified		 0.15542 0.11582 HOM Link to ClinVar
261072 254767 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified		 0.99634 0.98682 HOM Link to ClinVar
670309 666189 Benign not_provided . . HOM Link to ClinVar
670310 666984 Benign not_provided . . HOM Link to ClinVar
670311 666998 Benign not_provided . . HOM Link to ClinVar
261074 254769 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified		 0.99643 0.98702 HOM Link to ClinVar
306711 333103 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A		 . 0.98722 HOM Link to ClinVar
306723 333107 Benign Hereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A		 . 0.11921 HOM Link to ClinVar
307801 331332 Benign Cone_dystrophy_3 . . HOM Link to ClinVar
307803 329967 Benign Cone_dystrophy_3 . 0.374 HOM Link to ClinVar
307806 331342 Benign Cone_dystrophy_3 . 0.3746 HOM Link to ClinVar
307811 331346 Benign Cone_dystrophy_3 . . HOM Link to ClinVar
307819 323961 Benign Cone_dystrophy_3 . 0.3722 HOM Link to ClinVar
307828 331357 Benign Cone_dystrophy_3 . 0.38399 HOM Link to ClinVar
262820 254464 Benign Cone_dystrophy_3
not_specified		 . 0.9371 HOM Link to ClinVar
683258 665591 Benign not_provided . . HET Link to ClinVar
683259 666235 Benign not_provided . . HOM Link to ClinVar
695132 685312 Benign not_provided . . HOM Link to ClinVar
93412 99319 Benign Brugada_syndrome
Timothy_syndrome
History_of_neurodevelopmental_disorder
not_specified
Cardiovascular_phenotype
not_provided		 0.20737 0.12041 HOM Link to ClinVar
671977 666491 Benign not_provided . . HOM Link to ClinVar
683261 665692 Benign not_provided . . HOM Link to ClinVar
683274 666364 Benign not_provided . . HET Link to ClinVar
671970 665693 Benign not_provided . . HOM Link to ClinVar
683275 666496 Benign not_provided . . HET Link to ClinVar
671783 665698 Benign not_provided . . HET Link to ClinVar
764556 775881 Benign not_provided . . HET Link to ClinVar
695133 685328 Benign not_provided . . HET Link to ClinVar
764565 776028 Benign not_provided . . HET Link to ClinVar
764686 775962 Benign not_provided . . HET Link to ClinVar
764557 775888 Benign not_provided . . HOM Link to ClinVar
671798 666499 Benign not_provided . . HET Link to ClinVar
683263 666380 Benign not_provided . . HET Link to ClinVar
671799 666393 Benign not_provided . . HET Link to ClinVar
683270 665735 Benign not_provided . . HOM Link to ClinVar
671800 666510 Benign not_provided . . HET Link to ClinVar
695135 685335 Benign not_provided . . HET Link to ClinVar
670939 665737 Benign not_provided . . HET Link to ClinVar
671801 665749 Benign not_provided . . HOM Link to ClinVar
794112 787803 Benign not_provided . . HET Link to ClinVar
764840 775834 Benign not_provided . . HET Link to ClinVar
683271 666773 Benign not_provided . . HET Link to ClinVar
671806 666775 Benign not_provided . . HET Link to ClinVar
671807 666531 Benign not_provided . . HET Link to ClinVar
671808 665763 Benign not_provided . . HET Link to ClinVar
676054 666413 Benign/Likely_benign not_provided . . HET Link to ClinVar
673265 666423 Benign not_provided . . HET Link to ClinVar
670958 666426 Benign not_provided . . HOM Link to ClinVar
670940 665766 Benign not_provided . . HET Link to ClinVar
695136 685362 Benign not_provided . . HOM Link to ClinVar
671809 666431 Benign not_provided . . HET Link to ClinVar
670934 665770 Benign not_provided . . HET Link to ClinVar
673266 666436 Benign not_provided . . HOM Link to ClinVar
669624 666783 Benign not_provided . . HOM Link to ClinVar
671810 666785 Benign not_provided . . HOM Link to ClinVar
671811 666786 Benign not_provided . . HOM Link to ClinVar
93413 99320 Benign Brugada_syndrome
Timothy_syndrome
History_of_neurodevelopmental_disorder
not_specified
Cardiovascular_phenotype
not_provided		 0.69528 0.52636 HET Link to ClinVar
136640 140343 Benign not_specified 0.9999 1 HOM Link to ClinVar
671813 666796 Benign not_provided . . HOM Link to ClinVar
308169 330335 Benign Brugada_syndrome
Timothy_syndrome
not_provided		 . 0.88339 HOM Link to ClinVar
308174 330349 Benign Brugada_syndrome
Timothy_syndrome		 . . HOM Link to ClinVar
308236 324323 Benign Brugada_syndrome
Timothy_syndrome		 . 0.94828 HOM Link to ClinVar
308251 330445 Benign Brugada_syndrome
Timothy_syndrome		 . 0.77117 HOM Link to ClinVar
308267 316806 Benign Brugada_syndrome
Timothy_syndrome		 . 0.96685 HOM Link to ClinVar
678294 656161 Benign not_provided . . HET Link to ClinVar
380772 375127 Benign not_specified . 0.21985 HET Link to ClinVar
308779 324849 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial
Hypophosphatemic_Rickets,_Dominant		 . 0.20467 HOM Link to ClinVar
308803 330952 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial
not_specified
Hypophosphatemic_Rickets,_Dominant		 0.12388 0.14736 HET Link to ClinVar
138447 142150 Benign not_specified
not_provided		 0.24629 0.22404 HET Link to ClinVar
138448 142151 Benign not_specified 0.71857 0.70607 HET Link to ClinVar
671789 666700 Benign not_provided . . HET Link to ClinVar
682711 666628 Benign not_provided . . HOM Link to ClinVar
682712 666955 Benign not_provided . . HET Link to ClinVar
682713 666635 Benign not_provided . . HOM Link to ClinVar
671790 665961 Benign not_provided . . HET Link to ClinVar
138449 142152 Benign not_specified 0.42513 0.34685 HET Link to ClinVar
682714 666708 Benign not_provided . . HOM Link to ClinVar
682725 666965 Benign not_provided . . HOM Link to ClinVar
682728 666968 Benign not_provided . . HOM Link to ClinVar
21130 33982 Benign Episodic_ataxia
Myokymia
not_specified
not_provided		 . 0.53335 HET Link to ClinVar
129313 134759 Benign Episodic_ataxia
Myokymia
Episodic_ataxia_type_1
not_specified
not_provided		 0.73852 0.82049 HET Link to ClinVar
258594 254607 Benign/Likely_benign Atrial_fibrillation,_familial,_7
Familial_atrial_fibrillation
not_specified		 . 0.98103 HOM Link to ClinVar
309342 333135 Likely_benign Familial_atrial_fibrillation . 0.21905 HET Link to ClinVar
440406 433116 Benign not_specified 0.07926 0.10004 HET Link to ClinVar
440405 433117 Benign not_specified 0.07945 0.10104 HET Link to ClinVar
256704 254648 Benign not_specified 0.13509 0.11681 HET Link to ClinVar
256703 254649 Benign not_specified 0.19496 0.16234 HOM Link to ClinVar
256702 254650 Benign/Likely_benign von_Willebrand_disorder
not_specified		 0.05934 0.04473 HET Link to ClinVar
256696 254656 Benign/Likely_benign von_Willebrand_disorder
not_specified		 0.86871 0.82508 HOM Link to ClinVar
256695 254657 Benign/Likely_benign von_Willebrand_disorder
not_specified		 0.33541 0.30332 HET Link to ClinVar
256693 254659 Benign/Likely_benign von_Willebrand_disorder
not_specified		 . 0.70068 HOM Link to ClinVar
256688 254663 Benign/Likely_benign von_Willebrand_disorder
not_specified		 0.45766 0.45607 HET Link to ClinVar
256661 254687 Benign not_specified 0.7029 0.7532 HET Link to ClinVar
256658 254690 Benign not_specified . 0.53075 HET Link to ClinVar
256657 254691 Benign/Likely_benign von_Willebrand_disorder
not_specified		 . . HET Link to ClinVar
256654 254694 Benign/Likely_benign von_Willebrand_disorder
not_specified		 . 0.51877 HOM Link to ClinVar
619927 611318 Benign not_provided . 0.44369 HET Link to ClinVar
37038 45724 Benign/Likely_benign Multiple_sclerosis,_susceptibility_to,_5
not_specified
Familial_Periodic_Fever		 0.36212 0.29972 HOM Link to ClinVar
257326 254705 Benign/Likely_benign not_specified
Familial_Periodic_Fever		 0.3755 0.30152 HOM Link to ClinVar
675609 667205 Benign not_provided . . HOM Link to ClinVar
165164 175889 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
not_specified
Cystic_Fibrosis-Like_Syndrome		 . 0.74062 HOM Link to ClinVar
165165 175749 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
not_specified
Cystic_Fibrosis-Like_Syndrome		 0.08987 0.19229 HET Link to ClinVar
402517 390154 Benign not_specified 0.99261 0.9974 HOM Link to ClinVar
402518 390068 Benign not_specified . 0.36002 HET Link to ClinVar
675808 667211 Benign not_provided . . HET Link to ClinVar
226004 227813 drug_response sildenafil_response_-_Efficacy
not_provided		 0.35977 0.49221 HET Link to ClinVar
310372 326542 Uncertain_significance Triosephosphate_isomerase_deficiency . . HET Link to ClinVar
310415 318422 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.03654 HET Link to ClinVar
310452 334493 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.43211 HET Link to ClinVar
261353 254729 Benign Immunodeficiency_with_hyper_IgM_type_2
not_specified
Immunodeficiency_with_Hyper-IgM		 0.59043 0.48423 HOM Link to ClinVar
261352 254730 Benign Immunodeficiency_with_hyper_IgM_type_2
not_specified		 0.53233 0.63259 HET Link to ClinVar
369029 353258 Benign Immunodeficiency_with_Hyper-IgM . 0.99541 HOM Link to ClinVar
381191 375428 Benign not_specified 0.41653 0.42931 HET Link to ClinVar
674904 667237 Benign not_provided . . HET Link to ClinVar
561550 552696 Benign not_provided . 0.35803 HOM Link to ClinVar
384687 372586 Benign not_provided 0.08918 0.13019 HET Link to ClinVar
561804 552698 Benign not_provided . 0.61701 HET Link to ClinVar
561805 552699 Benign not_provided . 0.36122 HET Link to ClinVar
561806 552702 Benign not_provided . 0.90935 HOM Link to ClinVar
561551 552706 Benign not_provided . 0.94888 HOM Link to ClinVar
561807 552707 Benign not_provided . 0.94848 HOM Link to ClinVar
561539 552709 Benign not_provided . 0.84605 HOM Link to ClinVar
561552 552711 Benign not_provided . 0.85344 HOM Link to ClinVar
561533 552713 Benign not_provided . 0.85643 HOM Link to ClinVar
561553 552714 Benign not_provided . 0.82648 HOM Link to ClinVar
561534 552716 Benign not_provided . 0.82688 HOM Link to ClinVar
561535 552717 Benign not_provided . 0.93291 HOM Link to ClinVar
561809 552718 Benign not_provided . . HOM Link to ClinVar
561810 552719 Benign not_provided . . HOM Link to ClinVar
561520 552720 Benign not_provided . 0.93431 HOM Link to ClinVar
561521 552722 Benign not_provided . 0.43211 HOM Link to ClinVar
383777 373491 Benign not_provided 0.87003 0.86821 HOM Link to ClinVar
561554 552737 Benign not_provided . 0.51637 HET Link to ClinVar
561555 552739 Benign not_provided . 0.51378 HET Link to ClinVar
561527 552742 Benign not_provided . 0.51298 HET Link to ClinVar
561568 552747 Benign not_provided . 0.11621 HET Link to ClinVar
384669 373500 Benign Otitis_media,_susceptibility_to
not_provided		 0.43211 0.43231 HET Link to ClinVar
561569 552752 Benign not_provided . 0.10004 HET Link to ClinVar
384670 375466 Benign not_provided 0.85911 0.85264 HOM Link to ClinVar
384671 373525 Benign not_provided 0.73521 0.67772 HET Link to ClinVar
561565 552762 Benign not_provided 0.41267 0.40455 HET Link to ClinVar
561570 552764 Benign not_provided . 0.1893 HET Link to ClinVar
561566 552765 Benign not_provided . 0.40435 HET Link to ClinVar
211899 208005 Benign not_specified 0.73354 . HOM Link to ClinVar
769813 702542 Benign not_provided . . HET Link to ClinVar
590287 581228 risk_factor Aspergillosis,_susceptibility_to 0.76792 0.67053 HOM Link to ClinVar
402543 390101 Benign not_specified 0.74149 0.64058 HOM Link to ClinVar
307658 331119 Benign Multiple_endocrine_neoplasia
Multiple_endocrine_neoplasia,_type_4
not_provided		 . 0.66174 HOM Link to ClinVar
307718 323803 Likely_benign Intellectual_Disability,_Dominant . 0.89137 HOM Link to ClinVar
307723 331211 Likely_benign Intellectual_Disability,_Dominant . 0.27496 HOM Link to ClinVar
129204 134650 Benign/Likely_benign History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Dominant
not_provided		 . 0.2476 HET Link to ClinVar
676042 666226 Benign not_provided . . HET Link to ClinVar
681647 666625 Benign not_provided . . HET Link to ClinVar
129200 134646 Benign/Likely_benign History_of_neurodevelopmental_disorder
Mental_retardation,_autosomal_dominant_6
not_specified
Intellectual_Disability,_Dominant
not_provided		 0.26466 0.1901 HET Link to ClinVar
137516 141219 Benign not_specified 0.15766 0.10383 HOM Link to ClinVar
129205 134651 Benign/Likely_benign History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Dominant		 . 0.44149 HET Link to ClinVar
402915 390540 Benign not_specified . . HOM Link to ClinVar
402916 390087 Benign not_specified 0.94109 0.82348 HOM Link to ClinVar
17730 32769 Affects Blood_group,_Dombrock_system 0.34903 0.29273 HET Link to ClinVar
307759 331251 Benign Keutel_syndrome . 0.32408 HET Link to ClinVar
284369 268606 Benign Keutel_syndrome
not_specified		 0.37996 0.38538 HET Link to ClinVar
307773 331322 Benign Keutel_syndrome . . HET Link to ClinVar
307776 323908 Benign Keutel_syndrome . 0.26218 HET Link to ClinVar
307884 316532 Benign Rotor_syndrome . 0.69709 HET Link to ClinVar
440287 433930 Benign not_provided 0.21989 0.18411 HET Link to ClinVar
261184 254467 Benign Rotor_syndrome
not_specified		 0.80446 0.70248 HOM Link to ClinVar
261185 254468 Benign Rotor_syndrome
not_specified		 0.80656 0.70228 HOM Link to ClinVar
261186 254469 Benign Rotor_syndrome
not_specified		 0.80436 0.70248 HOM Link to ClinVar
810734 798983 Benign Gilbert's_syndrome . . HOM Link to ClinVar
307896 316533 Benign/Likely_benign Rotor_syndrome
not_specified		 0.11316 0.06569 HET Link to ClinVar
261183 254470 Benign Rotor_syndrome
not_specified		 0.80468 0.70288 HOM Link to ClinVar
440286 433929 Benign not_specified 0.81821 0.67871 HOM Link to ClinVar
810735 798984 Benign Gilbert's_syndrome . . HET Link to ClinVar
225995 227775 drug_response pravastatin_response_-_Efficacy . 0.05471 HET Link to ClinVar
259983 254471 Conflicting_interpretations_of_pathogenicity Gilbert's_syndrome
Rotor_syndrome
not_specified
not_provided		 0.47949 0.6224 HOM Link to ClinVar
37346 40587 drug_response simvastatin_acid_response_-_Metabolism/PK
Gilbert's_syndrome
Rotor_syndrome
not_specified
cerivastatin_response_-_Toxicity/ADR
pravastatin_response_-_Metabolism/PK
rosuvastatin_response_-_Other
simvastatin_response_-_Toxicity/ADR
hmg_coa_reductase_inhibitors_response_-_Toxicity/ADR,_Metabolism/PK
not_provided		 0.12943 0.08766 HET Link to ClinVar
259985 254473 Benign Rotor_syndrome
not_specified		 0.38514 0.41554 HOM Link to ClinVar
375656 362505 drug_response methotrexate_response_-_Toxicity/ADR . 0.21925 HET Link to ClinVar
307959 331512 Likely_benign Rotor_syndrome 0.04632 0.04433 HET Link to ClinVar
307967 324112 Benign Rotor_syndrome . 0.44768 HET Link to ClinVar
307969 331528 Benign Rotor_syndrome . 0.44848 HET Link to ClinVar
679695 665596 Benign not_provided . . HOM Link to ClinVar
679693 666651 Benign not_provided . . HOM Link to ClinVar
679691 665601 Benign not_provided . . HOM Link to ClinVar
679692 665603 Benign not_provided . . HOM Link to ClinVar
679689 666405 Benign not_provided . . HOM Link to ClinVar
679685 666661 Benign not_provided . . HOM Link to ClinVar
679683 666243 Benign not_provided . . HOM Link to ClinVar
679680 666685 Benign not_provided . . HOM Link to ClinVar
679678 656146 Benign not_provided . . HOM Link to ClinVar
307985 316625 Benign Hypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver . 0.53155 HET Link to ClinVar
261469 254475 Likely_benign not_specified . . HOM Link to ClinVar
261466 254478 Benign not_specified
not_provided		 0.76612 0.71566 HOM Link to ClinVar
261464 254480 Benign not_specified 0.76571 0.74062 HOM Link to ClinVar
199162 196321 Benign Hypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver
not_specified
not_provided		 . 0.74062 HOM Link to ClinVar
261463 254481 Benign Hypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver
not_specified
not_provided		 0.78958 0.75459 HOM Link to ClinVar
261462 254482 Benign Hypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver
not_specified
not_provided		 0.76856 0.74062 HOM Link to ClinVar
261473 254484 Benign not_specified
not_provided		 0.20874 0.17652 HET Link to ClinVar
308019 316663 Benign Lactate_dehydrogenase_B_deficiency 0.98053 0.93251 HOM Link to ClinVar
672441 666416 Benign not_provided . . HOM Link to ClinVar
673827 666270 Benign not_provided . . HET Link to ClinVar
681194 666716 Benign not_provided . . HOM Link to ClinVar
681193 665637 Benign not_provided . . HET Link to ClinVar
681192 666314 Benign not_provided . . HET Link to ClinVar
261216 254488 Benign not_specified
not_provided		 0.38829 0.33467 HET Link to ClinVar
681190 666744 Benign not_provided . . HOM Link to ClinVar
677919 666745 Benign not_provided . . HET Link to ClinVar
673006 666437 Benign not_provided . . HET Link to ClinVar
308037 330167 Benign/Likely_benign Hypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Dilated_Cardiomyopathy,_Dominant		 . . HET Link to ClinVar
681189 666443 Benign not_provided . . . Link to ClinVar
673826 665667 Benign not_provided . . HET Link to ClinVar
45402 54569 Benign/Likely_benign Hypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Dilated_Cardiomyopathy,_Dominant		 0.99952 0.9982 HOM Link to ClinVar
671057 665675 Benign not_provided . . HOM Link to ClinVar
673825 666336 Benign not_provided . . HOM Link to ClinVar
261214 254490 Benign not_specified 0.99953 0.9978 HOM Link to ClinVar
681188 666749 Benign not_provided . . HOM Link to ClinVar
45386 54553 Benign/Likely_benign Cardiomyopathy
Hypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant		 0.99897 0.9972 HOM Link to ClinVar
261213 254491 Benign not_specified 0.99692 0.99161 HOM Link to ClinVar
45384 54551 Benign/Likely_benign Hypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Dilated_Cardiomyopathy,_Dominant		 0.99693 0.99161 HOM Link to ClinVar
681187 665679 Benign not_provided . . HOM Link to ClinVar
672436 665684 Benign not_provided . . HOM Link to ClinVar
45419 54586 Benign/Likely_benign Hypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant		 0.6138 0.64477 HOM Link to ClinVar
681185 665689 Benign not_provided . . HOM Link to ClinVar
681184 666469 Benign not_provided . . HOM Link to ClinVar
681183 666472 Benign not_provided . . HOM Link to ClinVar
261217 254492 Benign not_specified 0.64151 0.70168 HOM Link to ClinVar
681182 666484 Benign not_provided . . HOM Link to ClinVar
308059 331607 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.54832 HOM Link to ClinVar
308062 316688 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . . HOM Link to ClinVar
308064 324167 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.54832 HOM Link to ClinVar
308065 330205 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.54852 HOM Link to ClinVar
308066 316694 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.43331 HOM Link to ClinVar
308075 316697 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.54812 HOM Link to ClinVar
308076 324182 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.54852 HOM Link to ClinVar
308077 331627 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . . HOM Link to ClinVar
308082 316700 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.52556 HOM Link to ClinVar
308089 316706 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . . HOM Link to ClinVar
308102 330231 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.9974 HOM Link to ClinVar
308118 324217 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 0.63591 0.54912 HOM Link to ClinVar
40467 48937 Benign/Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome
not_provided		 . 0.52057 HOM Link to ClinVar
561815 552690 Benign not_provided . 0.54752 HOM Link to ClinVar
46538 55703 Benign Noonan_syndrome_3
Rasopathy
not_specified		 0.99954 0.9976 HOM Link to ClinVar
402425 390019 Benign not_specified 0.23408 0.26458 HET Link to ClinVar
802832 791228 Benign Charcot-Marie-Tooth_disease,_type_4H . . HOM Link to ClinVar
308287 331861 Benign Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 . 0.46705 HET Link to ClinVar
670478 666803 Benign not_provided . . HET Link to ClinVar
670479 666454 Benign not_provided . . HET Link to ClinVar
670509 666808 Benign not_provided . . HET Link to ClinVar
680165 666566 Benign not_provided . . HET Link to ClinVar
308297 316842 Likely_benign Charcot-Marie-Tooth_disease_type_4 0.0953 0.0651 HET Link to ClinVar
668737 666815 Benign not_provided . . HET Link to ClinVar
308299 330499 Benign/Likely_benign Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.13177 0.14018 HET Link to ClinVar
680168 666819 Benign not_provided . . HET Link to ClinVar
308313 331882 Likely_benign Charcot-Marie-Tooth_disease_type_4 . 0.06689 HET Link to ClinVar
308322 330532 Likely_benign Charcot-Marie-Tooth_disease_type_4 . 0.06709 HET Link to ClinVar
308324 330549 Likely_benign Charcot-Marie-Tooth_disease_type_4 . 0.06709 HET Link to ClinVar
308327 331894 Benign Charcot-Marie-Tooth_disease_type_4 . 0.74181 HET Link to ClinVar
308336 330561 Benign Charcot-Marie-Tooth_disease_type_4 . . HET Link to ClinVar
308341 330563 Likely_benign Charcot-Marie-Tooth_disease_type_4 . 0.06789 HET Link to ClinVar
308351 331938 Benign Charcot-Marie-Tooth_disease_type_4 . 0.43371 HET Link to ClinVar
308355 316862 Likely_benign Charcot-Marie-Tooth_disease_type_4 . 0.06689 HET Link to ClinVar
308361 330594 Benign Charcot-Marie-Tooth_disease_type_4 . 0.49661 HET Link to ClinVar
308366 324449 Uncertain_significance Charcot-Marie-Tooth_disease_type_4 . . HET Link to ClinVar
308372 330604 Benign Charcot-Marie-Tooth_disease_type_4 . 0.99022 HOM Link to ClinVar
308377 324459 Benign Charcot-Marie-Tooth_disease_type_4 . 0.46765 HET Link to ClinVar
678476 666458 Benign not_provided . . HOM Link to ClinVar
671551 666462 Benign not_provided . . HOM Link to ClinVar
678685 666837 Benign not_provided . . HET Link to ClinVar
671780 665793 Likely_benign not_provided . . HET Link to ClinVar
676117 665808 Benign not_provided . . HOM Link to ClinVar
671645 666607 Benign not_provided . . HET Link to ClinVar
680551 666478 Benign not_provided . . HET Link to ClinVar
680576 665817 Benign not_provided . . HET Link to ClinVar
308420 332046 Uncertain_significance Lethal_Encephalopathy . . HET Link to ClinVar
680849 665824 Benign not_provided . . HET Link to ClinVar
308468 330718 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy . 0.03574 HET Link to ClinVar
308471 332116 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy . 0.03574 HET Link to ClinVar
308481 316934 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy . 0.89916 HOM Link to ClinVar
45070 54237 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9
not_specified		 0.2108 0.31829 HET Link to ClinVar
672403 666873 Benign not_provided . . HET Link to ClinVar
672402 666881 Benign not_provided . . HET Link to ClinVar
672401 665867 Benign not_provided . . HET Link to ClinVar
672209 666513 Benign not_provided . . HET Link to ClinVar
672400 665870 Benign not_provided . . HET Link to ClinVar
259441 254502 Benign not_specified 0.71268 0.59165 HET Link to ClinVar
674301 666893 Benign not_provided . . HET Link to ClinVar
669622 666640 Benign not_provided . . HET Link to ClinVar
369015 353244 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy . 0.33247 HET Link to ClinVar
683983 666899 Benign not_provided . . HET Link to ClinVar
308537 324579 Benign Congenital_fibrosis_of_the_extraocular_muscles . 0.38199 HET Link to ClinVar
308542 330788 Benign Congenital_fibrosis_of_the_extraocular_muscles . 0.38219 HET Link to ClinVar
39192 47798 Benign Parkinson_disease_8,_autosomal_dominant 0.52626 0.45288 HOM Link to ClinVar
308613 324683 Benign Parkinson_disease_8,_autosomal_dominant 0.36221 0.31949 HET Link to ClinVar
308617 330850 Benign Parkinson_disease_8,_autosomal_dominant . . HET Link to ClinVar
39197 47803 Benign Parkinson_disease_8,_autosomal_dominant 0.67809 0.68291 HET Link to ClinVar
39201 47807 Likely_benign Parkinson_disease_8,_autosomal_dominant 0.29827 0.28594 HET Link to ClinVar
39209 47815 Benign Parkinson_disease_8,_autosomal_dominant 0.57331 0.58526 HET Link to ClinVar
39222 47828 Likely_benign Parkinson_disease_8,_autosomal_dominant 0.30013 0.27376 HET Link to ClinVar
308647 324716 Benign Parkinson_disease_8,_autosomal_dominant
not_provided		 0.62398 0.55172 HET Link to ClinVar
308656 317030 Benign Parkinson_disease_8,_autosomal_dominant . 0.55132 HET Link to ClinVar
308657 332384 Benign Parkinson_disease_8,_autosomal_dominant . 0.55152 HET Link to ClinVar
308662 317036 Benign Parkinson_disease_8,_autosomal_dominant . 0.55132 HET Link to ClinVar
308668 330896 Benign Parkinson_disease_8,_autosomal_dominant . 0.55132 HET Link to ClinVar
679919 665885 Benign not_provided . . HET Link to ClinVar
679921 666660 Benign not_provided . . HET Link to ClinVar
679922 665889 Benign not_provided . . HET Link to ClinVar
679153 665893 Benign not_provided . . HET Link to ClinVar
679156 665894 Benign not_provided . . HET Link to ClinVar
679152 665902 Benign not_provided . . HET Link to ClinVar
128791 134240 Benign not_specified 0.61925 0.57149 HET Link to ClinVar
679162 665913 Benign not_provided . . HET Link to ClinVar
679164 666564 Benign not_provided . . HET Link to ClinVar
681651 666908 Benign not_provided . . HET Link to ClinVar
681652 666911 Benign not_provided . . HET Link to ClinVar
679926 666923 Benign not_provided . . HET Link to ClinVar
308683 332405 Benign Progressive_myoclonus_epilepsy_with_ataxia . 0.96965 HOM Link to ClinVar
308692 324780 Uncertain_significance Progressive_myoclonus_epilepsy_with_ataxia . . HET Link to ClinVar
308694 324781 Benign Progressive_myoclonus_epilepsy_with_ataxia 0.24671 0.30012 HET Link to ClinVar
308700 324798 Benign Progressive_myoclonus_epilepsy_with_ataxia . 0.72105 HOM Link to ClinVar
96506 102400 Benign Seizures
Progressive_myoclonus_epilepsy_with_ataxia
not_specified
not_provided		 0.43846 0.42931 HET Link to ClinVar
130024 135470 Benign Seizures
Progressive_myoclonus_epilepsy_with_ataxia
not_specified
not_provided		 0.34591 0.27057 HET Link to ClinVar
668046 665929 Benign not_provided . . HOM Link to ClinVar
668045 666587 Benign not_provided . . HOM Link to ClinVar
674935 666933 Benign not_provided . . HOM Link to ClinVar
668602 666944 Benign not_provided . . HOM Link to ClinVar
668600 665932 Benign not_provided . . HET Link to ClinVar
668599 665952 Benign not_provided . . HET Link to ClinVar
308741 332517 Likely_benign IRAK4_deficiency . 0.02416 HET Link to ClinVar
308828 317210 Likely_benign Vitamin_D-Dependent_Rickets . 0.54333 HET Link to ClinVar
308840 332585 Benign Vitamin_D-Dependent_Rickets . 0.97824 HOM Link to ClinVar
308841 331058 Likely_benign Vitamin_D-Dependent_Rickets . 0.5026 HET Link to ClinVar
308842 332589 Uncertain_significance Vitamin_D-Dependent_Rickets . 0.00539 HET Link to ClinVar
308862 331077 Likely_benign Vitamin_D-Dependent_Rickets . 0.12879 HET Link to ClinVar
308868 332607 Likely_benign Vitamin_D-Dependent_Rickets . 0.49421 HET Link to ClinVar
308887 331088 drug_response peginterferon_alfa-2b_and_ribavirin_response_-_Efficacy
Vitamin_D-Dependent_Rickets
Vitamin_D-dependent_rickets,_type_2
not_specified		 0.63756 0.67153 HOM Link to ClinVar
308889 317255 Likely_benign Vitamin_D-Dependent_Rickets . 0.16514 HET Link to ClinVar
308891 331092 Likely_benign Vitamin_D-Dependent_Rickets . 0.16613 HET Link to ClinVar
675027 666974 Benign not_provided . . HET Link to ClinVar
802842 791239 Benign Stickler_syndrome_type_1 . . HOM Link to ClinVar
674857 666656 Benign not_provided . . HOM Link to ClinVar
674856 667018 Benign not_provided . . HOM Link to ClinVar
674843 666658 Benign not_provided . . HOM Link to ClinVar
93787 99689 Benign/Likely_benign Type_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant		 0.48963 0.48283 HOM Link to ClinVar
674842 666662 Benign not_provided . . HOM Link to ClinVar
258226 254539 Benign not_specified
not_provided		 0.39002 0.47324 HOM Link to ClinVar
258225 254540 Benign/Likely_benign Type_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant		 0.39583 0.42971 HOM Link to ClinVar
674840 667026 Benign not_provided . . HOM Link to ClinVar
674839 666663 Benign not_provided . . HOM Link to ClinVar
258219 254547 Benign not_specified
not_provided		 0.75222 0.68311 HOM Link to ClinVar
674837 666666 Benign not_provided . . HET Link to ClinVar
674836 667048 Benign not_provided . . HET Link to ClinVar
585506 577262 Benign not_provided . 0.48403 HET Link to ClinVar
585505 577263 Benign not_provided . 0.48383 HET Link to ClinVar
585507 577264 Benign not_provided . 0.48602 HET Link to ClinVar
258210 254555 Benign/Likely_benign Type_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant		 0.196 0.20367 HET Link to ClinVar
683344 667055 Benign not_provided . . HET Link to ClinVar
677868 666003 Benign not_provided . . HET Link to ClinVar
677867 666779 Benign not_provided . . HET Link to ClinVar
674982 666782 Benign not_provided . . HOM Link to ClinVar
674981 666668 Benign not_provided . . HOM Link to ClinVar
677855 666007 Benign not_provided . . HOM Link to ClinVar
677854 666015 Benign not_provided . . HOM Link to ClinVar
677853 666671 Benign not_provided . . HOM Link to ClinVar
677852 666677 Benign not_provided . . HOM Link to ClinVar
675025 666679 Benign not_provided . . HET Link to ClinVar
258244 254562 Benign/Likely_benign Type_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant		 0.29345 0.16074 HET Link to ClinVar
258243 254563 Benign/Likely_benign Type_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant		 0.74893 0.68271 HOM Link to ClinVar
683339 666683 Benign not_provided . . HOM Link to ClinVar
258241 254565 Benign not_specified 0.02482 0.01098 HET Link to ClinVar
668711 667058 Benign not_provided . . HET Link to ClinVar
668953 666018 Benign not_provided . . HET Link to ClinVar
668947 666687 Benign not_provided . . HET Link to ClinVar
198471 195632 Benign/Likely_benign Type_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant		 . 0.21925 HET Link to ClinVar
677845 666689 Benign not_provided . . HET Link to ClinVar
671012 666020 Benign not_provided . . HOM Link to ClinVar
677851 667068 Benign not_provided . . HOM Link to ClinVar
93791 99693 Benign not_specified 0.77124 0.6859 HOM Link to ClinVar
93788 99690 Benign/Likely_benign Type_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant		 0.77256 0.6853 HOM Link to ClinVar
308941 317278 Benign/Likely_benign Type_II_Collagenopathies
Stickler_Syndrome,_Dominant
not_provided		 . 0.72764 HOM Link to ClinVar
674834 667074 Benign not_provided . . HOM Link to ClinVar
683490 666021 Benign not_provided . . HET Link to ClinVar
255763 254572 Benign Glycogen_storage_disease,_type_VII
not_specified
not_provided		 0.14854 0.1879 HET Link to ClinVar
669651 666036 Benign not_provided . . HET Link to ClinVar
676171 666037 Benign not_provided . . HET Link to ClinVar
683493 666041 Benign not_provided . . HET Link to ClinVar
667847 667100 Benign not_provided . . HET Link to ClinVar
255754 254583 Benign not_specified
not_provided		 0.73522 0.64537 HOM Link to ClinVar
255758 254587 Benign Glycogen_storage_disease,_type_VII
not_specified
not_provided		 . 0.20427 HET Link to ClinVar
402501 390097 Benign not_specified 0.36988 0.3099 HOM Link to ClinVar
88685 94265 Likely_pathogenic Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_27
Kartagener_syndrome
not_provided		 . . HET Link to ClinVar
402502 390144 Benign not_specified . 0.30771 HOM Link to ClinVar
402503 390099 Benign not_specified 0.36971 0.30831 HOM Link to ClinVar
402504 390145 Benign not_specified 0.36923 0.30811 HOM Link to ClinVar
504917 497419 Benign not_specified 0.75927 0.66713 HOM Link to ClinVar
309241 317502 Benign Nephrogenic_diabetes_insipidus . 0.35264 HET Link to ClinVar
309255 317523 Benign Nephrogenic_diabetes_insipidus . 0.88878 HOM Link to ClinVar
309257 333084 Benign Nephrogenic_diabetes_insipidus . 0.48123 HET Link to ClinVar
309259 333088 Benign Nephrogenic_diabetes_insipidus . 0.22764 HET Link to ClinVar
309263 331609 Benign Nephrogenic_diabetes_insipidus . . HET Link to ClinVar
309264 331612 Benign Nephrogenic_diabetes_insipidus . 0.88518 HOM Link to ClinVar
309274 317541 Benign Nephrogenic_diabetes_insipidus . 0.23423 HET Link to ClinVar
309281 331638 Benign Anemia,_hypochromic_microcytic,_with_iron_overload_1 0.42536 0.4381 HOM Link to ClinVar
309290 317582 Benign Anemia,_hypochromic_microcytic,_with_iron_overload_1 0.91858 0.89677 HOM Link to ClinVar
309307 331680 Benign Anemia,_hypochromic_microcytic,_with_iron_overload_1 0.93421 0.89597 HOM Link to ClinVar
309323 325455 Benign Anemia,_hypochromic_microcytic,_with_iron_overload_1 0.45251 0.3119 HOM Link to ClinVar
309328 333177 Benign Anemia,_hypochromic_microcytic,_with_iron_overload_1 0.91806 0.89677 HOM Link to ClinVar
130253 135700 Benign History_of_neurodevelopmental_disorder
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided		 0.83669 0.78494 HOM Link to ClinVar
670686 667114 Benign not_provided . . HOM Link to ClinVar
669362 666047 Benign not_provided . . HOM Link to ClinVar
260352 254609 Benign not_specified 0.79147 0.70747 HOM Link to ClinVar
684270 666831 Benign not_provided . . HOM Link to ClinVar
670526 666833 Benign not_provided . . HET Link to ClinVar
670540 666750 Benign not_provided . . HET Link to ClinVar
670844 666055 Benign not_provided . . HET Link to ClinVar
139073 142776 Benign not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant		 0.14 0.16014 HET Link to ClinVar
684272 666841 Benign not_provided . . HET Link to ClinVar
130247 135694 Benign History_of_neurodevelopmental_disorder
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided		 0.65001 0.50379 HET Link to ClinVar
670845 667128 Benign not_provided . . HET Link to ClinVar
668851 666057 Benign not_provided . . HET Link to ClinVar
668853 666059 Benign not_provided . . HET Link to ClinVar
130251 135698 Benign History_of_neurodevelopmental_disorder
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided		 . 0.48902 HET Link to ClinVar
309381 331755 Benign Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant . 0.16314 HET Link to ClinVar
309407 331784 Benign Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant 0.75365 0.83846 HOM Link to ClinVar
810906 799691 Benign Hereditary_hemorrhagic_telangiectasia_type_2 . . HET Link to ClinVar
136293 139996 Benign Hereditary_hemorrhagic_telangiectasia_type_2
Hereditary_hemorrhagic_telangiectasia_type_1
not_specified		 0.42633 0.43111 HET Link to ClinVar
254710 254610 Benign Hereditary_hemorrhagic_telangiectasia_type_2
not_specified		 0.45775 0.4367 HET Link to ClinVar
439376 433105 Benign Hereditary_hemorrhagic_telangiectasia_type_2
not_specified		 . . HET Link to ClinVar
254709 254616 Benign/Likely_benign Hereditary_hemorrhagic_telangiectasia_type_2
not_specified
not_provided		 0.28429 0.34345 HET Link to ClinVar
439373 433114 Benign Hereditary_hemorrhagic_telangiectasia_type_2
not_provided		 0.30761 0.34325 HET Link to ClinVar
810907 799705 Benign Hereditary_hemorrhagic_telangiectasia_type_2 . . HET Link to ClinVar
678439 666850 Benign Hereditary_hemorrhagic_telangiectasia_type_2
not_provided		 . . HET Link to ClinVar
811605 799708 Benign Hereditary_hemorrhagic_telangiectasia_type_2 . . HET Link to ClinVar
810856 799709 Benign Hereditary_hemorrhagic_telangiectasia_type_2 . . HET Link to ClinVar
309454 333309 Benign Hereditary_hemorrhagic_telangiectasia_type_1 . 0.34245 HET Link to ClinVar
309467 333318 Benign Hereditary_hemorrhagic_telangiectasia_type_1 . 0.69968 HOM Link to ClinVar
309477 333333 Likely_benign Hereditary_hemorrhagic_telangiectasia_type_1 . 0.17672 HET Link to ClinVar
309483 317733 Likely_benign Hereditary_hemorrhagic_telangiectasia_type_1 . 0.13099 HET Link to ClinVar
309484 331852 Likely_benign Hereditary_hemorrhagic_telangiectasia_type_1 . 0.14257 HET Link to ClinVar
66545 77442 not_provided not_provided . 0.1873 HET Link to ClinVar
309489 331858 Benign Beaded_hair . 0.71086 HET Link to ClinVar
309494 333362 Benign Beaded_hair 0.69984 0.73622 HET Link to ClinVar
309499 325618 Benign Beaded_hair . 0.71146 HET Link to ClinVar
309521 333400 Benign Beaded_hair 0.66626 0.71785 HET Link to ClinVar
66546 77443 Benign Beaded_hair
not_provided		 0.32313 0.36262 HET Link to ClinVar
1891 16930 risk_factor Pseudofolliculitis_barbae,_susceptibility_to
not_provided		 0.12308 0.14317 HET Link to ClinVar
768547 702366 Likely_benign not_provided . . HOM Link to ClinVar
309550 331909 Benign Epidermolysis_bullosa_simplex . 0.12919 HET Link to ClinVar
66224 77121 Benign Epidermolysis_bullosa_simplex
not_specified
not_provided		 0.1344 0.12879 HET Link to ClinVar
66223 77120 Benign Epidermolysis_bullosa_simplex
not_specified
not_provided		 0.1394 0.15176 HET Link to ClinVar
66198 77095 Benign Epidermolysis_bullosa_simplex
not_specified
not_provided		 0.13 0.12859 HET Link to ClinVar
66283 77180 Benign Epidermolysis_bullosa_simplex
not_specified
not_provided		 . 0.1276 HET Link to ClinVar
66282 77179 Benign Epidermolysis_bullosa_simplex
not_specified
not_provided		 0.13029 0.128 HET Link to ClinVar
256044 254617 Benign Epidermolysis_bullosa_simplex
not_specified		 . 0.13818 HET Link to ClinVar
256043 254618 Benign Epidermolysis_bullosa_simplex
not_specified		 0.07218 0.06849 HET Link to ClinVar
309581 333460 Benign Epidermolysis_bullosa_simplex . 0.10523 HET Link to ClinVar
309616 331979 Benign Ichthyosis_bullosa_of_Siemens . 0.07208 HET Link to ClinVar
309626 317855 Benign Ichthyosis_bullosa_of_Siemens . 0.27816 HET Link to ClinVar
309637 333512 Benign Nonepidermolytic_palmoplantar_keratoderma
Bullous_ichthyosiform_erythroderma		 0.30507 0.27556 HET Link to ClinVar
66623 77520 Benign Nonepidermolytic_palmoplantar_keratoderma
Bullous_ichthyosiform_erythroderma
not_provided		 0.44344 0.42552 HET Link to ClinVar
66667 77564 not_provided not_provided . 0.28854 HET Link to ClinVar
66666 77563 not_provided not_provided 0.44403 0.42552 HET Link to ClinVar
66516 77413 Benign White_sponge_nevus_of_cannon
not_provided		 . 0.83706 HOM Link to ClinVar
309671 325795 Benign White_sponge_nevus_of_cannon . 0.83786 HOM Link to ClinVar
309687 333549 Benign White_sponge_nevus_of_cannon 0.83173 0.82348 HOM Link to ClinVar
768551 702383 Benign not_provided . . HOM Link to ClinVar
66535 77432 not_provided not_provided 0.55301 0.56749 HET Link to ClinVar
128252 133701 Benign Glucocorticoid_deficiency_with_achalasia
not_specified		 0.97454 0.91534 HOM Link to ClinVar
309747 325888 Uncertain_significance Osteogenesis_Imperfecta,_Recessive . 0.00339 HET Link to ClinVar
309751 325889 Benign Osteogenesis_Imperfecta,_Recessive . . HOM Link to ClinVar
285779 270016 Benign Osteogenesis_imperfecta_type_12
not_specified
Osteogenesis_Imperfecta,_Recessive		 0.98664 0.96126 HOM Link to ClinVar
285778 270015 Benign Osteogenesis_imperfecta_type_12
not_specified
Osteogenesis_Imperfecta,_Recessive		 0.95821 0.89557 HOM Link to ClinVar
667626 666759 Benign not_provided . . HOM Link to ClinVar
129297 134743 Conflicting_interpretations_of_pathogenicity not_specified
Congenital_Muscular_Dystrophy,_ITGA7-related
not_provided		 0.00466 0.0024 HET Link to ClinVar
94047 99949 Conflicting_interpretations_of_pathogenicity Muscular_dystrophy,_congenital,_due_to_integrin_alpha-7_deficiency
not_specified
Congenital_Muscular_Dystrophy,_ITGA7-related		 . 0.01558 HET Link to ClinVar
94046 99948 Benign/Likely_benign not_specified
Congenital_Muscular_Dystrophy,_ITGA7-related		 . 0.03494 HET Link to ClinVar
258857 254633 Benign/Likely_benign Pigmentary_retinal_dystrophy
not_specified		 0.19522 0.15276 HET Link to ClinVar
130383 135830 Benign Sulfite_oxidase_deficiency
not_specified		 . 0.7522 HOM Link to ClinVar
309857 318056 Benign Diamond-Blackfan_anemia
not_specified		 . 0.55591 HOM Link to ClinVar
309863 325984 Benign Cataract . . HOM Link to ClinVar
309866 325987 Benign Cataract . 0.32209 HET Link to ClinVar
309871 318063 Benign Cataract . 0.26917 HET Link to ClinVar
309875 325992 Benign Cataract . 0.85304 HET Link to ClinVar
309883 333746 Benign Cataract . 0.97224 HOM Link to ClinVar
260169 254635 Benign/Likely_benign Cataract
Cataract_15,_multiple_types
not_specified		 0.0253 0.02196 HET Link to ClinVar
768555 702431 Benign not_provided . . HOM Link to ClinVar
226408 228212 Likely_benign Deafness,_autosomal_dominant_48
Nonsyndromic_Hearing_Loss,_Dominant		 0.00287 0.001 HET Link to ClinVar
774328 702442 Benign not_provided . . HET Link to ClinVar
1189 16228 Uncertain_significance Coronary_artery_spasm_3,_susceptibility_to . 0.37021 HOM Link to ClinVar
682853 666097 Benign not_provided . . HOM Link to ClinVar
682856 666891 Benign not_provided . . HOM Link to ClinVar
682858 666798 Benign not_provided . . HOM Link to ClinVar
309975 332311 Uncertain_significance Cutaneous_Malignant_Melanoma,_Dominant . . HET Link to ClinVar
678634 666914 Benign not_provided . . HOM Link to ClinVar
198206 195367 Benign not_specified 0.13708 . HET Link to ClinVar
403522 390062 Benign Glaucoma_1,_open_angle,_p
not_specified
not_provided		 0.48142 0.35324 HOM Link to ClinVar
310175 332553 Benign Sanfilippo_syndrome . 0.60643 HOM Link to ClinVar
310184 334206 Benign Sanfilippo_syndrome . 0.59385 HOM Link to ClinVar
310198 332602 Benign Sanfilippo_syndrome . 0.71566 HOM Link to ClinVar
94029 99931 Benign Sanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-D
not_specified
not_provided		 . . HOM Link to ClinVar
310219 326356 Benign/Likely_benign Dermatofibrosis_lenticularis_disseminata
not_specified		 0.20349 0.08327 HET Link to ClinVar
310222 332656 Likely_benign Dermatofibrosis_lenticularis_disseminata 0.07426 0.04812 HET Link to ClinVar
310255 332686 Likely_benign Dermatofibrosis_lenticularis_disseminata . 0.04792 HET Link to ClinVar
310277 326419 Benign Fraser_syndrome_1 . . HOM Link to ClinVar
310290 332712 Benign Fraser_syndrome_1 . 0.50379 HOM Link to ClinVar
261411 254710 Benign Fraser_syndrome_1
not_specified		 . 0.97464 HOM Link to ClinVar
261410 254711 Benign Fraser_syndrome_1
not_specified		 0.94938 0.84365 HOM Link to ClinVar
261409 254712 Benign Fraser_syndrome_1
not_specified		 0.56156 0.42232 HET Link to ClinVar
261413 254713 Benign Fraser_syndrome_1
not_specified		 0.65231 0.71705 HOM Link to ClinVar
695297 685383 Likely_benign not_provided . . HET Link to ClinVar
310335 332755 Benign Familial_visceral_amyloidosis,_Ostertag_type . 0.91993 HOM Link to ClinVar
310354 318410 Benign Familial_visceral_amyloidosis,_Ostertag_type . 0.46865 HOM Link to ClinVar
310386 326588 Likely_benign Tryptophan_5-monooxygenase_deficiency 0.56466 0.54173 HOM Link to ClinVar
310388 332804 Likely_benign Tryptophan_5-monooxygenase_deficiency 0.57319 0.48722 HOM Link to ClinVar
35752 44416 Benign/Likely_benign Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.00837 0.0028 HET Link to ClinVar
669384 667213 Likely_benign not_provided . . HET Link to ClinVar
226934 230375 Benign not_specified 0.69854 0.68331 HET Link to ClinVar
501890 493314 Benign not_specified 0.21747 0.18331 HET Link to ClinVar
226944 230391 Benign not_specified 0.9618 0.94848 HOM Link to ClinVar
226949 230398 Benign not_specified . . HET Link to ClinVar
226952 230404 Benign not_specified 0.61508 0.49481 HET Link to ClinVar
226956 230408 Benign not_specified 0.22331 0.17332 HET Link to ClinVar
226957 230409 Benign not_specified 0.85312 0.83407 HOM Link to ClinVar
226962 230414 Benign not_specified 0.18289 0.17153 HET Link to ClinVar
226966 230419 Benign not_specified 0.94001 0.96446 HOM Link to ClinVar
226968 230422 Benign not_specified . 0.16993 HET Link to ClinVar
226969 230423 Benign not_specified 0.78683 0.67812 HOM Link to ClinVar
226970 230424 Benign not_specified 0.94539 0.96865 HOM Link to ClinVar
226972 230426 Benign not_specified 0.58932 0.48403 HET Link to ClinVar
226976 230431 Benign not_specified 0.78742 0.68311 HOM Link to ClinVar
671633 666135 Benign not_provided . . HET Link to ClinVar
682569 656185 Benign Deafness,_autosomal_recessive_84
not_provided		 . . HOM Link to ClinVar
682570 666138 Benign not_provided . . HOM Link to ClinVar
805262 793449 Benign not_provided . . HET Link to ClinVar
310511 334598 Benign Centronuclear_Myopathy,_Dominant . 0.45847 HET Link to ClinVar
310516 326716 Benign Centronuclear_Myopathy,_Dominant . 0.45847 HET Link to ClinVar
681349 667239 Benign not_provided . . HET Link to ClinVar
678616 666884 Benign not_provided . . HOM Link to ClinVar
166828 177569 Benign Joubert_syndrome
Leber_congenital_amaurosis
Meckel-Gruber_syndrome
Renal_dysplasia_and_retinal_aplasia
Bardet-Biedl_syndrome
not_specified		 . . HOM Link to ClinVar
126261 131793 Benign not_specified 0.88413 0.76458 HOM Link to ClinVar
668069 666942 Benign not_provided . . HOM Link to ClinVar
261845 254744 Benign not_specified . . HOM Link to ClinVar
668067 666887 Benign not_provided . . HOM Link to ClinVar
96170 102064 Benign Joubert_syndrome
Leber_congenital_amaurosis
Meckel-Gruber_syndrome
Renal_dysplasia_and_retinal_aplasia
Bardet-Biedl_syndrome
not_specified
not_provided		 . . HOM Link to ClinVar
668886 667251 Benign not_provided . . HET Link to ClinVar
668066 666174 Benign not_provided . . HOM Link to ClinVar
126253 131785 Benign not_specified . 0.76458 HOM Link to ClinVar
126249 131781 Benign not_specified
not_provided		 . 0.76458 HOM Link to ClinVar
678615 666952 Benign not_provided . . HOM Link to ClinVar
680377 667264 Benign not_provided . . HOM Link to ClinVar
166839 177574 Benign Joubert_syndrome
Leber_congenital_amaurosis
Meckel-Gruber_syndrome
Renal_dysplasia_and_retinal_aplasia
Bardet-Biedl_syndrome
not_specified		 0.92839 0.8736 HOM Link to ClinVar
12811 27850 Affects Skin/hair/eye_pigmentation,_variation_in,_7 . 0.03175 HET Link to ClinVar
802882 791287 Benign Hypogonadotropic_hypogonadism_19_with_or_without_anosmia . . HET Link to ClinVar
677224 666195 Benign not_provided . . HOM Link to ClinVar
768570 778133 Benign not_provided . . HOM Link to ClinVar
682690 667009 Benign not_provided . . HET Link to ClinVar
310677 327068 Likely_benign Histidinemia . 0.35244 HOM Link to ClinVar
310679 327069 Benign Histidinemia . 0.45347 HOM Link to ClinVar
310695 333174 Uncertain_significance Histidinemia . . HET Link to ClinVar
310701 333182 Likely_benign Histidinemia . 0.17712 HET Link to ClinVar
310709 334906 Benign Histidinemia 0.83938 0.88718 HOM Link to ClinVar
310710 318725 Benign Histidinemia 0.84683 0.91114 HOM Link to ClinVar
310719 333194 Benign Histidinemia 0.56479 0.57967 HET Link to ClinVar
684070 666200 Benign not_provided . . HET Link to ClinVar
672959 667012 Benign not_provided . . HET Link to ClinVar
672960 667016 Benign not_provided . . HET Link to ClinVar
672961 667022 Benign not_provided . . HET Link to ClinVar
671210 667284 Benign not_provided . . HET Link to ClinVar
310785 334955 Likely_benign Dilated_Cardiomyopathy,_Dominant . 0.13359 HET Link to ClinVar
678043 667033 Benign not_provided . . HOM Link to ClinVar
306637 322498 Benign Nonsyndromic_Hearing_Loss,_Dominant 0.4875 0.377 HET Link to ClinVar
368977 353206 Likely_benign Nonsyndromic_Hearing_Loss,_Dominant . 0.31729 HET Link to ClinVar
129644 135090 Benign Distal_arthrogryposis
not_specified		 0.95421 0.96446 HOM Link to ClinVar
306773 330054 Likely_benign I_cell_disease
Mucolipidosis,_Type_III_Alpha/Beta		 . 0.07827 HOM Link to ClinVar
671998 666005 Benign not_provided . . HOM Link to ClinVar
96121 102015 Benign I_cell_disease
not_specified
Mucolipidosis,_Type_III_Alpha/Beta
not_provided		 0.60146 0.6905 HOM Link to ClinVar
96119 102013 Benign I_cell_disease
not_specified
Mucolipidosis,_Type_III_Alpha/Beta
not_provided		 0.58851 0.65136 HOM Link to ClinVar
671996 666428 Benign not_provided . . HOM Link to ClinVar
671995 666183 Benign not_provided . . HOM Link to ClinVar
671994 666192 Benign not_provided . . HOM Link to ClinVar
671993 666430 Benign not_provided . . HOM Link to ClinVar
671992 666199 Benign not_provided . . HOM Link to ClinVar
684061 666013 Benign not_provided . . HOM Link to ClinVar
306840 328922 Benign Insulin-like_growth_factor_I_deficiency . 0.61901 HOM Link to ClinVar
306880 330185 Benign Insulin-like_growth_factor_I_deficiency . 0.42692 HOM Link to ClinVar
306886 322907 Uncertain_significance Insulin-like_growth_factor_I_deficiency . . HOM Link to ClinVar
306892 315820 Benign Insulin-like_growth_factor_I_deficiency . 0.63858 HET Link to ClinVar
306911 330196 Benign Phenylketonuria . 0.29253 HET Link to ClinVar
102592 108328 Benign not_specified
not_provided		 0.01625 0.01058 HET Link to ClinVar
167413 177903 Benign not_specified . 0.84026 HOM Link to ClinVar
92755 98662 Benign Phenylketonuria
not_specified
not_provided		 0.35173 0.26957 HET Link to ClinVar
167414 177904 Benign not_specified . 0.54653 HOM Link to ClinVar
102712 108448 not_provided not_provided . 0.23463 HET Link to ClinVar
102673 108409 Benign not_specified
not_provided		 0.37252 0.29433 HET Link to ClinVar
92736 98643 Benign Phenylketonuria
not_specified
not_provided		 0.19427 0.21685 HET Link to ClinVar
585207 576256 Conflicting_interpretations_of_pathogenicity Phenylketonuria . 0.36362 HET Link to ClinVar
162758 175385 Benign not_specified 0.05252 0.07129 HET Link to ClinVar
306923 315852 Uncertain_significance Pol_III-related_leukodystrophy . 0.00679 HET Link to ClinVar
130001 135447 Benign Pol_III-related_leukodystrophy
not_specified		 . 0.31789 HET Link to ClinVar
130003 135449 Benign Pol_III-related_leukodystrophy
not_specified		 0.32414 0.32488 HET Link to ClinVar
306955 330244 Benign Pol_III-related_leukodystrophy . 0.32488 HET Link to ClinVar
559220 549981 Benign not_provided . . HOM Link to ClinVar
559222 549983 Benign not_provided . 0.50759 HET Link to ClinVar
214554 211576 Benign not_specified . . HOM Link to ClinVar
684116 666438 Benign not_provided . . HOM Link to ClinVar
681978 666439 Benign not_provided . . HOM Link to ClinVar
261417 254400 Benign not_specified
not_provided		 . 0.5619 HET Link to ClinVar
667567 666224 Benign not_provided . . HET Link to ClinVar
667566 665364 Benign not_provided . . HET Link to ClinVar
667565 666228 Benign not_provided . . HET Link to ClinVar
261420 254405 Benign Spondylometaphyseal_dysplasia
Metatrophic_dysplasia
Charcot-Marie-Tooth_disease,_type_2
Brachyolmia
Scapuloperoneal_spinal_muscular_atrophy
Distal_spinal_muscular_atrophy,_congenital_nonprogressive
not_specified
not_provided		 . 0.75439 HET Link to ClinVar
670248 666234 Benign not_provided . . HOM Link to ClinVar
670247 665388 Benign not_provided . . HOM Link to ClinVar
670706 666236 Benign not_provided . . HET Link to ClinVar
670705 665393 Benign not_provided . . HET Link to ClinVar
31774 40434 not_provided not_provided . 0.14996 HET Link to ClinVar
31772 40432 Benign Familial_hypertrophic_cardiomyopathy_10
not_specified
not_provided		 . . HET Link to ClinVar
522365 512973 Likely_benign Spinocerebellar_ataxia_2 0.21574 0.23143 HET Link to ClinVar
128508 133957 Benign/Likely_benign Spinocerebellar_ataxia_2
not_specified		 0.71861 0.44429 HET Link to ClinVar
128507 133956 Benign/Likely_benign Spinocerebellar_ataxia_2
not_specified		 0.875 0.44429 HET Link to ClinVar
307220 316040 Benign/Likely_benign Noonan_syndrome
Noonan_syndrome_with_multiple_lentigines
Metachondromatosis
not_provided		 . 0.14317 HET Link to ClinVar
561607 552671 Benign not_provided . 0.3734 HET Link to ClinVar
40569 49039 Benign Noonan_syndrome . 0.51178 HET Link to ClinVar
307230 329407 Uncertain_significance Noonan_syndrome
Noonan_syndrome_with_multiple_lentigines
Metachondromatosis		 . . HET Link to ClinVar
13985 29024 Uncertain_significance Diabetes_mellitus,_type_1,_susceptibility_to 0.56278 0.47384 HOM Link to ClinVar
307275 316071 Benign Holt-Oram_syndrome . 0.80831 HOM Link to ClinVar
307300 323333 Benign Holt-Oram_syndrome 0.68373 0.57228 HOM Link to ClinVar
307318 329565 Likely_benign Holt-Oram_syndrome . 0.0002 HET Link to ClinVar
307336 323367 Benign Ulnar-mammary_syndrome . 0.49581 HOM Link to ClinVar
307384 316155 Benign Ulnar-mammary_syndrome . 0.15915 HET Link to ClinVar
307399 330802 Benign Ulnar-mammary_syndrome . . HET Link to ClinVar
676114 665408 Benign not_provided . . HET Link to ClinVar
669703 665417 Benign not_provided . . HET Link to ClinVar
136259 139962 Benign Deficiency_of_butyryl-CoA_dehydrogenase
not_specified		 0.5706 0.59066 HET Link to ClinVar
136260 139963 Benign Deficiency_of_butyryl-CoA_dehydrogenase
not_specified		 0.54526 0.67312 HET Link to ClinVar
307453 316184 Benign Deficiency_of_butyryl-CoA_dehydrogenase . 0.27436 HET Link to ClinVar
129234 134680 Benign Maturity_onset_diabetes_mellitus_in_young
not_specified
not_provided		 0.47217 0.42851 HOM Link to ClinVar
14937 29976 Benign SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF
Maturity_onset_diabetes_mellitus_in_young
Maturity-onset_diabetes_of_the_young,_type_3
Insulin_resistance,_susceptibility_to
not_specified
not_provided		 0.35329 0.29852 HOM Link to ClinVar
676859 666539 Benign not_provided . . HOM Link to ClinVar
676864 665420 Benign not_provided . . HOM Link to ClinVar
673535 666082 Benign not_provided . . HOM Link to ClinVar
676874 666269 Benign not_provided . . HOM Link to ClinVar
673536 666085 Benign not_provided . . HOM Link to ClinVar
676860 666276 Benign not_provided . . HOM Link to ClinVar
133355 137094 Benign not_specified
not_provided		 . . HOM Link to ClinVar
680606 666096 Benign not_provided . . HOM Link to ClinVar
129229 134675 Benign Maturity_onset_diabetes_mellitus_in_young
not_specified
not_provided		 0.33678 0.31669 HOM Link to ClinVar
129230 134676 Benign Maturity_onset_diabetes_mellitus_in_young
not_specified
not_provided		 0.34651 0.31769 HOM Link to ClinVar
129231 134677 Benign Maturity_onset_diabetes_mellitus_in_young
not_specified
not_provided		 0.43472 0.35963 HOM Link to ClinVar
676877 666282 Benign not_provided . . HOM Link to ClinVar
135505 139244 not_provided not_specified 0.81454 0.77696 HOM Link to ClinVar
36810 45471 Benign Maturity-onset_diabetes_of_the_young,_type_3
not_specified		 0.99585 0.98522 HOM Link to ClinVar
673537 666285 Benign not_provided . . HOM Link to ClinVar
307464 329694 Benign Maturity_onset_diabetes_mellitus_in_young . 0.35982 HOM Link to ClinVar
307468 323496 Benign Maturity_onset_diabetes_mellitus_in_young . 0.36002 HOM Link to ClinVar
802899 791201 Benign Hawkinsinuria . . HOM Link to ClinVar
368982 353211 Benign Hypertyrosinemia
Hawkinsinuria		 . 0.33606 HET Link to ClinVar
403606 390112 Benign not_specified 0.04235 0.03435 HET Link to ClinVar
403607 390117 Benign not_specified 0.04261 0.03614 HET Link to ClinVar
770415 702187 Benign not_provided . . HET Link to ClinVar
671535 666286 Benign not_provided . . HOM Link to ClinVar
307502 323565 Benign Combined_oxidative_phosphorylation_deficiency . 0.65136 HOM Link to ClinVar
307507 316228 Benign Combined_oxidative_phosphorylation_deficiency . 0.55731 HOM Link to ClinVar
307508 316231 Benign Combined_oxidative_phosphorylation_deficiency . 0.65056 HOM Link to ClinVar
675007 666542 Benign not_provided . . HET Link to ClinVar
670707 666288 Benign not_provided . . HET Link to ClinVar
675008 666100 Benign not_provided . . HET Link to ClinVar
675009 666290 Benign not_provided . . HET Link to ClinVar
675010 665445 Benign not_provided . . HET Link to ClinVar
672228 665448 Benign not_provided . . HET Link to ClinVar
672250 665449 Benign not_provided . . HET Link to ClinVar
670708 665450 Benign not_provided . . HET Link to ClinVar
670709 666101 Benign not_provided . . HET Link to ClinVar
675011 665453 Benign not_provided . . HET Link to ClinVar
675012 666292 Benign not_provided . . HET Link to ClinVar
672251 666293 Benign not_provided . . HET Link to ClinVar
671911 666296 Benign not_provided . . HET Link to ClinVar
671912 665455 Benign not_provided . . HET Link to ClinVar
126290 131822 Benign not_specified
not_provided		 0.35666 0.33167 HET Link to ClinVar
126294 131826 Benign/Likely_benign Joubert_syndrome
Meckel-Gruber_syndrome
Meckel_syndrome_type_8
not_specified
not_provided		 0.35772 0.33606 HET Link to ClinVar
126293 131825 Benign not_specified
not_provided		 0.42686 0.44549 HET Link to ClinVar
671913 666302 Benign not_provided . . HET Link to ClinVar
672252 666551 Benign not_provided . . HET Link to ClinVar
126282 131814 Benign Meckel_syndrome_type_8
not_specified		 0.42813 0.44549 HET Link to ClinVar
671926 666306 Benign not_provided . . HET Link to ClinVar
126283 131815 Benign Joubert_syndrome
Meckel-Gruber_syndrome
Meckel_syndrome_type_8
not_specified
not_provided		 0.43874 0.48223 HET Link to ClinVar
675016 666310 Benign not_provided . . HET Link to ClinVar
126284 131816 Benign not_specified
not_provided		 0.32599 0.27217 HET Link to ClinVar
672253 666107 Benign not_provided . . HET Link to ClinVar
126285 131817 Benign/Likely_benign Joubert_syndrome
Meckel-Gruber_syndrome
Meckel_syndrome_type_8
not_specified
not_provided		 0.32552 0.27236 HET Link to ClinVar
675018 666313 Benign not_provided . . HET Link to ClinVar
672255 666115 Benign not_provided . . HET Link to ClinVar
672256 666562 Benign not_provided . . HET Link to ClinVar
671927 666321 Benign not_provided . . HET Link to ClinVar
307564 316270 Benign/Likely_benign Joubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive		 . 0.21685 HET Link to ClinVar
307567 323625 Benign Joubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive		 . . HET Link to ClinVar
307569 331039 Benign/Likely_benign Joubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive		 . 0.27217 HET Link to ClinVar
676231 666144 Benign not_provided . . HET Link to ClinVar
307573 316275 Benign/Likely_benign Joubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive		 . 0.27217 HET Link to ClinVar
95515 101414 Benign/Likely_benign Joubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive
not_specified		 0.48251 0.27217 HET Link to ClinVar
95523 101422 Benign Cutis_laxa,_recessive
not_specified		 0.67924 0.751 HET Link to ClinVar
95524 101423 Benign Cutis_laxa,_recessive
not_specified		 0.67563 0.7498 HET Link to ClinVar
95525 101424 Benign Cutis_laxa,_recessive
not_specified		 0.67559 0.7498 HET Link to ClinVar
683167 665490 Benign not_provided . . HET Link to ClinVar
260260 254452 Benign not_specified . 0.67991 HET Link to ClinVar
95520 101419 Benign Cutis_laxa,_recessive
not_specified		 0.6934 0.79952 HET Link to ClinVar
683169 665492 Benign not_provided . . HOM Link to ClinVar
95521 101420 Benign/Likely_benign ALG9_congenital_disorder_of_glycosylation
Cutis_laxa,_recessive
not_specified		 0.02835 0.01478 HET Link to ClinVar
307610 331090 Benign Cutis_laxa,_recessive . 0.61761 HET Link to ClinVar
307618 316294 Benign Cutis_laxa,_recessive . 0.79153 HET Link to ClinVar
307642 316304 Benign Cutis_laxa,_recessive . 0.60663 HET Link to ClinVar
402611 390121 Benign not_specified 0.66321 0.71326 HOM Link to ClinVar
402612 389988 Benign not_specified 0.91334 0.96306 HOM Link to ClinVar
402613 390038 Benign not_specified 0.67025 0.80132 HOM Link to ClinVar
781702 713405 Benign not_provided . . HET Link to ClinVar
402614 390123 Benign not_specified 0.72937 0.83786 HOM Link to ClinVar
402615 390127 Benign not_specified . 0.78614 HOM Link to ClinVar
402621 390129 Benign not_specified 0.30553 0.33566 HET Link to ClinVar
402622 389996 Benign not_specified 0.30088 0.35803 HET Link to ClinVar
402624 390002 Benign not_specified 0.17267 0.20847 HET Link to ClinVar
402625 390133 Benign not_specified 0.37411 0.26058 HOM Link to ClinVar
253091 247502 Pathogenic High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6 0.00065 . HET Link to ClinVar
768597 702205 Benign not_provided . . HOM Link to ClinVar
769836 702216 Benign not_provided . . HET Link to ClinVar
307697 323783 Benign Mitochondrial_myopathy_and_sideroblastic_anemia
not_provided		 . 0.1274 HET Link to ClinVar
683630 665502 Benign not_provided . . HET Link to ClinVar
683631 666180 Benign not_provided . . HOM Link to ClinVar
226985 230275 Benign/Likely_benign not_specified
not_provided		 0.02901 0.00938 HET Link to ClinVar
676504 665511 Benign not_provided . . HET Link to ClinVar
380211 374780 Benign not_specified
not_provided		 0.97117 0.98383 HOM Link to ClinVar
439266 432724 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 . . HET Link to ClinVar
380209 373073 Benign not_specified
not_provided		 . 0.57169 HOM Link to ClinVar
679673 666617 Benign not_provided . . HOM Link to ClinVar
676491 666621 Benign not_provided . . HOM Link to ClinVar
676488 666220 Benign not_provided . . HOM Link to ClinVar
676489 666369 Benign not_provided . . HOM Link to ClinVar
676486 666222 Benign not_provided . . HOM Link to ClinVar
679670 666374 Benign not_provided . . HOM Link to ClinVar
380208 373095 Benign not_specified
not_provided		 0.49014 0.37879 HOM Link to ClinVar
311285 335443 Benign Zonular_Pulverulent_Cataract . . HOM Link to ClinVar
311296 319093 Benign Zonular_Pulverulent_Cataract . 0.95407 HOM Link to ClinVar
311298 327537 Benign Zonular_Pulverulent_Cataract . 0.97923 HOM Link to ClinVar
311308 327539 Benign Zonular_Pulverulent_Cataract . 0.27137 HOM Link to ClinVar
311312 335505 Likely_benign Zonular_Pulverulent_Cataract . 0.00919 HET Link to ClinVar
311319 335528 Benign Zonular_Pulverulent_Cataract . 0.97804 HOM Link to ClinVar
311322 335530 Likely_benign Zonular_Pulverulent_Cataract . 0.00919 HET Link to ClinVar
311327 319109 Benign Zonular_Pulverulent_Cataract . 0.24101 HOM Link to ClinVar
311329 335534 Benign Zonular_Pulverulent_Cataract . . HOM Link to ClinVar
261459 254822 Benign not_specified
Zonular_Pulverulent_Cataract
not_provided		 0.98676 0.96486 HOM Link to ClinVar
311353 335544 Benign Mutilating_keratoderma
Hystrix-like_ichthyosis_with_deafness
Keratitis_ichthyosis_and_deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.9972 HOM Link to ClinVar
311356 327575 Benign Mutilating_keratoderma
Hystrix-like_ichthyosis_with_deafness
Keratitis_ichthyosis_and_deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.89337 HOM Link to ClinVar
311357 333862 Benign Mutilating_keratoderma
Hystrix-like_ichthyosis_with_deafness
Keratitis_ichthyosis_and_deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.87021 HOM Link to ClinVar
36277 44941 Benign Mutilating_keratoderma
Hystrix-like_ichthyosis_with_deafness
Deafness,_autosomal_recessive_1A
Keratitis_ichthyosis_and_deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.6867 HET Link to ClinVar
44739 53906 Benign Deafness,_autosomal_recessive_1A
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
not_provided		 0.01459 0.03095 HET Link to ClinVar
36279 44943 Benign Deafness,_autosomal_recessive_1A
Deafness,_autosomal_dominant_3a
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.04538 0.07189 HET Link to ClinVar
311376 333878 Likely_benign Hidrotic_ectodermal_dysplasia_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.25479 HET Link to ClinVar
402965 390036 Benign not_specified 0.13208 0.12999 HET Link to ClinVar
402966 390156 Benign not_specified 0.7602 0.76478 HET Link to ClinVar
402967 390163 Benign not_specified 0.76004 0.76478 HET Link to ClinVar
311416 333898 Benign Symphalangism-brachydactyly_syndrome . . HET Link to ClinVar
311421 327654 Benign Symphalangism-brachydactyly_syndrome 0.32145 0.25339 HET Link to ClinVar
311424 333908 Benign Symphalangism-brachydactyly_syndrome . 0.83247 HET Link to ClinVar
311426 319176 Benign Symphalangism-brachydactyly_syndrome 0.99482 0.98183 HOM Link to ClinVar
311478 335624 Likely_benign Severe_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.1252 HET Link to ClinVar
684354 667089 Benign not_provided . . HOM Link to ClinVar
678210 666995 Benign not_provided . . HOM Link to ClinVar
92654 98561 Benign Severe_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.43426 0.52476 HOM Link to ClinVar
670553 666264 Benign not_provided . . HET Link to ClinVar
684357 667097 Benign not_provided . . HET Link to ClinVar
670065 667021 Benign not_provided . . HET Link to ClinVar
92657 98564 Benign/Likely_benign Severe_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.67442 0.62979 HET Link to ClinVar
167681 178066 Benign Severe_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
Spastic_ataxia_Charlevoix-Saguenay_type
not_specified		 . 0.8778 HET Link to ClinVar
288428 272665 Benign/Likely_benign Severe_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.35024 HET Link to ClinVar
130201 135648 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided		 0.27797 0.25839 HET Link to ClinVar
130200 135647 Benign Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided		 0.99567 0.98542 HOM Link to ClinVar
130199 135646 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided		 0.27779 0.25899 HET Link to ClinVar
130205 135652 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided		 . 0.25919 HET Link to ClinVar
130203 135650 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided		 0.28091 0.25998 HET Link to ClinVar
240895 241631 Benign Spastic_paraplegia
Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided		 0.02332 0.00819 HET Link to ClinVar
260389 254843 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type
not_specified		 . 0.3111 HET Link to ClinVar
769844 702636 Benign not_provided . . HET Link to ClinVar
768604 778271 Benign not_provided . . HET Link to ClinVar
311588 335746 Benign Seckel_syndrome
Primary_Microcephaly,_Recessive		 . 0.32388 HET Link to ClinVar
311597 327860 Benign Seckel_syndrome
Primary_Microcephaly,_Recessive		 . 0.15435 HET Link to ClinVar
311598 335797 Benign Seckel_syndrome
Primary_Microcephaly,_Recessive		 . 0.13498 HET Link to ClinVar
678327 667110 Benign not_provided . . HOM Link to ClinVar
158213 169016 Benign Seckel_syndrome
not_specified
Primary_Microcephaly,_Recessive		 . . HOM Link to ClinVar
158212 169017 Benign not_specified
not_provided		 0.80662 0.7482 HOM Link to ClinVar
668064 667360 Benign not_provided . . HOM Link to ClinVar
680183 667366 Benign not_provided . . HET Link to ClinVar
158208 169021 Benign Seckel_syndrome
not_specified
Primary_Microcephaly,_Recessive
not_provided		 0.80358 0.73722 HOM Link to ClinVar
158207 169022 Benign Seckel_syndrome
not_specified
Primary_Microcephaly,_Recessive
not_provided		 0.53945 0.48403 HOM Link to ClinVar
668063 666271 Benign not_provided . . HET Link to ClinVar
678325 666275 Benign not_provided . . HOM Link to ClinVar
680180 666278 Benign not_provided . . HET Link to ClinVar
673928 667023 Benign not_provided . . HET Link to ClinVar
678324 667027 Benign not_provided . . HOM Link to ClinVar
21666 34518 Benign Seckel_syndrome
Primary_autosomal_recessive_microcephaly_6
Seckel_syndrome_1
not_specified
Primary_Microcephaly,_Recessive		 . 0.15515 HET Link to ClinVar
128488 133937 Likely_benign not_specified 0.19131 0.20407 HET Link to ClinVar
128489 133938 Likely_benign not_specified 0.62866 0.53634 HOM Link to ClinVar
128490 133939 Likely_benign not_specified 0.99726 0.98742 HOM Link to ClinVar
311641 319355 Likely_benign Treacher_Collins_Syndrome,_Dominant . 0.08087 HET Link to ClinVar
311646 334181 Likely_benign Treacher_Collins_Syndrome,_Dominant . 0.002 HET Link to ClinVar
669733 666284 Benign not_provided . . HET Link to ClinVar
683833 667116 Benign not_provided . . HET Link to ClinVar
673552 667377 Benign not_provided . . HET Link to ClinVar
134447 138186 not_provided not_specified 0.59878 0.55871 HET Link to ClinVar
162173 171886 not_provided not_provided . 0.20088 HET Link to ClinVar
96626 102519 Benign not_specified 0.3617 0.2476 HET Link to ClinVar
96628 102521 Benign not_specified
not_provided		 0.98276 0.97544 HOM Link to ClinVar
96624 102517 Benign not_specified
not_provided		 0.74246 0.66673 HOM Link to ClinVar
209598 205808 Benign Breast-ovarian_cancer,_familial_2 . 0.15955 HET Link to ClinVar
209930 205811 Benign Breast-ovarian_cancer,_familial_2 . 0.74121 HET Link to ClinVar
209606 205817 Benign Breast-ovarian_cancer,_familial_2 . 0.25839 HOM Link to ClinVar
209931 205823 Benign Breast-ovarian_cancer,_familial_2 . 0.97424 HOM Link to ClinVar
209623 205837 Benign Breast-ovarian_cancer,_familial_2 . 0.04912 HET Link to ClinVar
209934 205843 Benign Breast-ovarian_cancer,_familial_2 . 0.97424 HOM Link to ClinVar
209935 205863 Benign Breast-ovarian_cancer,_familial_2 . 0.97384 HOM Link to ClinVar
264863 259427 Benign Breast-ovarian_cancer,_familial_2 . . HOM Link to ClinVar
209936 205884 Benign Breast-ovarian_cancer,_familial_2 . 0.97404 HOM Link to ClinVar
9329 24368 Benign Breast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Ductal_breast_carcinoma
Breast-ovarian_cancer,_familial_2
not_specified
not_provided		 0.27793 0.2494 HOM Link to ClinVar
209937 205894 Benign Breast-ovarian_cancer,_familial_2 . 0.97404 HOM Link to ClinVar
132779 136527 Benign Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
not_provided		 . 0.97404 HOM Link to ClinVar
132780 136528 Benign Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
not_provided		 . 0.97364 HOM Link to ClinVar
264926 259450 Benign Breast-ovarian_cancer,_familial_2 . . HOM Link to ClinVar
209938 205931 Benign Breast-ovarian_cancer,_familial_2
not_specified		 . 0.97404 HOM Link to ClinVar
209714 205936 Benign Breast-ovarian_cancer,_familial_2 . 0.42332 HOM Link to ClinVar
209939 205938 Benign Breast-ovarian_cancer,_familial_2
not_specified		 . 0.97404 HOM Link to ClinVar
209738 205961 Benign Breast-ovarian_cancer,_familial_2 . 0.2482 HOM Link to ClinVar
209747 205970 Benign Breast-ovarian_cancer,_familial_2 . 0.03714 HET Link to ClinVar
209940 205977 Benign Breast-ovarian_cancer,_familial_2 . 0.97584 HOM Link to ClinVar
133738 137477 Benign Ductal_breast_carcinoma
Breast-ovarian_cancer,_familial_2
not_specified
not_provided		 0.99372 0.97584 HOM Link to ClinVar
264968 259469 Benign Breast-ovarian_cancer,_familial_2 . 0.9986 HOM Link to ClinVar
209763 205988 Benign Breast-ovarian_cancer,_familial_2 . 0.4409 HOM Link to ClinVar
209942 205991 Benign Breast-ovarian_cancer,_familial_2 . 0.97624 HOM Link to ClinVar
209783 206009 Benign Breast-ovarian_cancer,_familial_2 . 0.21046 HET Link to ClinVar
209788 206014 Benign Breast-ovarian_cancer,_familial_2 . 0.22065 HET Link to ClinVar
264906 259489 Benign Breast-ovarian_cancer,_familial_2 . 0.22404 HET Link to ClinVar
209821 206049 Benign Breast-ovarian_cancer,_familial_2 . 0.20887 HET Link to ClinVar
209945 206051 Benign Breast-ovarian_cancer,_familial_2 . 0.97604 HOM Link to ClinVar
209946 206053 Benign Breast-ovarian_cancer,_familial_2 . 0.97604 HOM Link to ClinVar
209950 206082 Benign Breast-ovarian_cancer,_familial_2 . 0.97664 HOM Link to ClinVar
209850 206084 Benign Breast-ovarian_cancer,_familial_2 . 0.00559 HET Link to ClinVar
209858 206093 Benign Breast-ovarian_cancer,_familial_2 . 0.22804 HET Link to ClinVar
209867 206102 Benign Breast-ovarian_cancer,_familial_2 . 0.02636 HET Link to ClinVar
209870 206106 Benign Breast-ovarian_cancer,_familial_2 . 0.20927 HET Link to ClinVar
209872 206108 Benign Breast-ovarian_cancer,_familial_2 . 0.22863 HET Link to ClinVar
264910 259515 Benign Breast-ovarian_cancer,_familial_2 . 0.97664 HOM Link to ClinVar
209878 206116 Benign Breast-ovarian_cancer,_familial_2 . 0.01138 HET Link to ClinVar
264867 259517 Benign Breast-ovarian_cancer,_familial_2 . . HOM Link to ClinVar
209884 206125 Benign Breast-ovarian_cancer,_familial_2 . 0.05112 HET Link to ClinVar
209891 206133 Benign Breast-ovarian_cancer,_familial_2 . 0.16034 HET Link to ClinVar
209893 206135 Benign Breast-ovarian_cancer,_familial_2 . 0.22824 HET Link to ClinVar
209959 206136 Benign Breast-ovarian_cancer,_familial_2 . 0.97664 HOM Link to ClinVar
209902 206145 Benign Breast-ovarian_cancer,_familial_2 . 0.15994 HET Link to ClinVar
209903 206147 Benign Breast-ovarian_cancer,_familial_2 . 0.16014 HET Link to ClinVar
209911 206157 Benign Breast-ovarian_cancer,_familial_2 . 0.16014 HET Link to ClinVar
209917 206163 Benign Breast-ovarian_cancer,_familial_2 . 0.21006 HET Link to ClinVar
209964 206167 Benign Breast-ovarian_cancer,_familial_2 . 0.97684 HOM Link to ClinVar
125927 131465 Benign Hereditary_breast_and_ovarian_cancer_syndrome
Fanconi_anemia
Breast-ovarian_cancer,_familial_2
not_specified		 . 0.16074 HET Link to ClinVar
311680 334231 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial
not_specified		 0.98652 0.94409 HOM Link to ClinVar
311701 319386 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial 0.8036 0.71086 HET Link to ClinVar
311705 334253 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial 0.99186 0.97624 HOM Link to ClinVar
311724 334285 Likely_benign Tumoral_calcinosis,_hyperphosphatemic,_familial . 0.01258 HET Link to ClinVar
311757 336031 Benign Troyer_syndrome . 0.98902 HOM Link to ClinVar
311793 319478 Benign Bare_lymphocyte_syndrome_2 . . HOM Link to ClinVar
311796 328029 Likely_benign Bare_lymphocyte_syndrome_2 . 0.00938 HET Link to ClinVar
311797 336079 Benign Bare_lymphocyte_syndrome_2 . 0.79613 HOM Link to ClinVar
311802 328035 Likely_benign Bare_lymphocyte_syndrome_2 . 0.14137 HET Link to ClinVar
311809 319497 Benign Primary_pulmonary_hypertension . 0.11442 HET Link to ClinVar
311810 319502 Benign Primary_pulmonary_hypertension . 0.32089 HET Link to ClinVar
311832 336116 Benign Primary_pulmonary_hypertension . . HET Link to ClinVar
311838 319534 Benign Primary_pulmonary_hypertension . . HET Link to ClinVar
311839 334428 Benign Primary_pulmonary_hypertension . 0.43011 HET Link to ClinVar
311883 334468 Benign Primary_pulmonary_hypertension . . HET Link to ClinVar
675286 667127 Benign not_provided . . HET Link to ClinVar
672486 667034 Benign not_provided . . HOM Link to ClinVar
683862 667035 Benign not_provided . . HOM Link to ClinVar
802960 791343 Benign Pontocerebellar_hypoplasia,_type_1c . . HET Link to ClinVar
263299 254848 Benign Fraser_syndrome_1
not_specified		 0.99997 1 HOM Link to ClinVar
193535 190699 Benign Fraser_syndrome_1
not_specified		 0.19033 0.08427 HET Link to ClinVar
193536 190700 Benign Fraser_syndrome_1
not_specified		 0.99997 1 HOM Link to ClinVar
263300 254849 Benign Fraser_syndrome_1
not_specified		 0.73977 0.77197 HOM Link to ClinVar
263301 254850 Benign Fraser_syndrome_1
not_specified		 0.37337 0.4367 HET Link to ClinVar
312045 328237 Benign Fraser_syndrome_1 . 0.32628 HET Link to ClinVar
312052 336408 Benign Fraser_syndrome_1 . 0.43391 HET Link to ClinVar
312065 334678 Benign Fraser_syndrome_1 . 0.43391 HET Link to ClinVar
312075 328254 Benign Fraser_syndrome_1 . 0.29872 HET Link to ClinVar
312078 336428 Benign Fraser_syndrome_1 . 0.30371 HET Link to ClinVar
312080 328262 Benign Fraser_syndrome_1 . 0.30371 HET Link to ClinVar
312087 328264 Benign Fraser_syndrome_1 . 0.7474 HOM Link to ClinVar
312089 328272 Benign Fraser_syndrome_1 . 0.29872 HET Link to ClinVar
312093 319727 Benign Fraser_syndrome_1 . 0.30871 HET Link to ClinVar
312099 319745 Benign Fraser_syndrome_1 . 0.7504 HOM Link to ClinVar
312101 319746 Benign Fraser_syndrome_1 . 0.30851 HET Link to ClinVar
312104 319751 Benign Fraser_syndrome_1 . 0.43411 HET Link to ClinVar
312106 336477 Benign Fraser_syndrome_1 . 0.46446 . Link to ClinVar
312111 336493 Benign Fraser_syndrome_1 . . HOM Link to ClinVar
312113 328287 Benign Fraser_syndrome_1 . 0.43431 HET Link to ClinVar
312116 328291 Benign Fraser_syndrome_1 . 0.25719 HET Link to ClinVar
193435 190599 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 . . HET Link to ClinVar
193436 190600 Benign Congenital_disorder_of_glycosylation
not_specified		 . 0.48443 HET Link to ClinVar
193437 190601 Benign Congenital_disorder_of_glycosylation
not_specified		 0.51315 0.48423 HET Link to ClinVar
312139 336505 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.25988 0.29553 HET Link to ClinVar
312153 328314 Benign Congenital_disorder_of_glycosylation 0.51466 0.46645 HET Link to ClinVar
312159 334793 Benign Congenital_disorder_of_glycosylation 0.44361 0.27596 HET Link to ClinVar
312160 328326 Benign Congenital_disorder_of_glycosylation . . HET Link to ClinVar
312168 319824 Benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome . 0.57728 HOM Link to ClinVar
683871 667130 Benign not_provided . . HET Link to ClinVar
139125 142828 Benign/Likely_benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome
not_specified		 0.07932 0.0629 HET Link to ClinVar
672018 667132 Benign not_provided . . HET Link to ClinVar
139126 142829 Benign/Likely_benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome
not_specified		 0.09551 0.11342 HET Link to ClinVar
672019 667040 Benign not_provided . . HET Link to ClinVar
139127 142830 Benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome
not_specified		 0.37248 0.32268 HET Link to ClinVar
674052 667391 Benign not_provided . . HET Link to ClinVar
672020 667044 Benign not_provided . . HET Link to ClinVar
683874 667046 Benign not_provided . . HET Link to ClinVar
312187 336595 Benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome . 0.42372 HET Link to ClinVar
312189 319839 Benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome . 0.42372 HET Link to ClinVar
312190 336610 Benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome . 0.42372 HET Link to ClinVar
312197 336614 Likely_benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome . 0.05292 HET Link to ClinVar
312204 319871 Likely_benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome . 0.04213 HET Link to ClinVar
312209 334838 Benign Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome . 0.23163 HET Link to ClinVar
312222 328402 Benign Osteopetrosis . 0.9988 HOM Link to ClinVar
193257 190421 Benign Osteopetrosis
not_specified		 0.52363 0.46546 HET Link to ClinVar
195202 192363 Benign Osteopetrosis
not_specified		 0.81152 0.78834 HOM Link to ClinVar
312243 319888 Benign Osteopetrosis . 0.99461 HOM Link to ClinVar
312251 319894 Benign Osteopetrosis . 0.33287 HET Link to ClinVar
226025 227777 drug_response Major_depressive_disorder,_response_to_citalopram_therapy_in
not_specified
antidepressants_response_-_Efficacy
citalopram_response_-_Efficacy
Selective_serotonin_reuptake_inhibitors_response_-_Efficacy		 . 0.72724 HOM Link to ClinVar
511089 504274 Likely_benign not_specified 0.40715 0.44129 HET Link to ClinVar
511090 504813 Likely_benign not_specified . 0.44349 HET Link to ClinVar
312254 319895 Likely_benign Mitochondrial_DNA_depletion_syndrome . 0.08227 HET Link to ClinVar
312259 328423 Likely_benign Mitochondrial_DNA_depletion_syndrome . 0.08247 HET Link to ClinVar
312262 319904 Benign Mitochondrial_DNA_depletion_syndrome . 0.94189 HOM Link to ClinVar
672631 667394 Benign not_provided . . HET Link to ClinVar
676449 667140 Benign not_provided . . HET Link to ClinVar
672630 666299 Benign not_provided . . HET Link to ClinVar
684103 666305 Benign not_provided . . HOM Link to ClinVar
671130 667146 Benign not_provided . . HET Link to ClinVar
671617 666307 Benign not_provided . . HOM Link to ClinVar
671999 667158 Benign not_provided . . HET Link to ClinVar
670147 666308 Benign not_provided . . HOM Link to ClinVar
670146 667169 Benign not_provided . . HOM Link to ClinVar
139360 143063 Benign Mitochondrial_DNA_depletion_syndrome
not_specified
not_provided		 0.75155 0.68351 HOM Link to ClinVar
676453 667174 Benign not_provided . . HET Link to ClinVar
139358 143061 Benign Mitochondrial_DNA_depletion_syndrome
not_specified
not_provided		 0.75152 0.68351 HOM Link to ClinVar
676421 666315 Benign not_provided . . HOM Link to ClinVar
671225 667177 Benign not_provided . . HET Link to ClinVar
670145 666317 Benign not_provided . . HOM Link to ClinVar
676448 667072 Benign not_provided . . HET Link to ClinVar
684102 667395 Benign not_provided . . HOM Link to ClinVar
255825 254854 Benign not_specified 0.96075 0.91374 HOM Link to ClinVar
255823 254858 Benign not_specified 0.95521 0.88498 HOM Link to ClinVar
312343 319950 Benign Wilson_disease . 0.52396 HET Link to ClinVar
680486 666319 Benign not_provided . . HET Link to ClinVar
254770 254860 Benign not_specified
not_provided		 0.56071 0.53175 HET Link to ClinVar
35727 44391 Benign/Likely_benign Wilson_disease
not_specified
not_provided		 0.53738 0.5018 HET Link to ClinVar
680485 667078 Benign not_provided . . HET Link to ClinVar
35720 44384 Benign Wilson_disease
not_specified		 0.56526 0.54054 HET Link to ClinVar
680483 666326 Benign not_provided . . HET Link to ClinVar
680484 667405 Benign not_provided . . HET Link to ClinVar
35713 44377 Benign/Likely_benign Wilson_disease
not_specified		 0.05802 0.02496 HET Link to ClinVar
35709 44373 Benign/Likely_benign Wilson_disease
not_specified		 0.07199 0.11362 HET Link to ClinVar
35708 44372 Benign Wilson_disease
not_specified		 0.56269 0.53095 HET Link to ClinVar
35707 44371 Benign Wilson_disease
not_specified		 0.53844 0.5024 HET Link to ClinVar
680481 667187 Benign not_provided . . HET Link to ClinVar
676098 667410 Benign not_provided . . HET Link to ClinVar
312405 336917 Benign Wilson_disease
Congenital_disorder_of_glycosylation
not_specified
not_provided		 . 0.51677 HET Link to ClinVar
538871 528164 Benign Congenital_disorder_of_glycosylation_type_1P
not_specified
not_provided		 . 0.07288 HET Link to ClinVar
487323 463943 Likely_benign not_provided . 0.02196 HET Link to ClinVar
312422 335052 Benign Congenital_disorder_of_glycosylation 0.64785 0.58127 HET Link to ClinVar
312423 320003 Likely_benign Congenital_disorder_of_glycosylation 0.11199 0.08007 HET Link to ClinVar
312426 320004 Benign Congenital_disorder_of_glycosylation 0.62881 0.51058 HET Link to ClinVar
517823 504304 Benign not_specified 0.20412 0.14697 HET Link to ClinVar
508094 504579 Benign Auditory_neuropathy,_autosomal_dominant,_1
not_specified		 . 0.92911 HOM Link to ClinVar
508609 505207 Benign not_specified
not_provided		 0.02687 0.01198 HET Link to ClinVar
683133 656213 Benign not_provided . . HET Link to ClinVar
130861 136305 Likely_benign not_specified 0.08323 0.17432 HET Link to ClinVar
212373 208052 Benign not_specified . . HET Link to ClinVar
130552 135998 Likely_benign not_specified 0.08198 0.03634 HET Link to ClinVar
130550 135996 Likely_benign not_specified 0.49107 0.36921 HOM Link to ClinVar
130549 135995 Likely_benign not_specified 0.82564 0.71186 HOM Link to ClinVar
130548 135994 Likely_benign not_specified 0.35749 0.22604 HET Link to ClinVar
130556 136002 Likely_benign not_specified . 0.99521 HOM Link to ClinVar
130551 135997 Likely_benign not_specified 0.0967 0.11102 HET Link to ClinVar
789220 713972 Benign not_provided . . HET Link to ClinVar
670727 666343 Benign not_provided . . HOM Link to ClinVar
95396 101295 Benign/Likely_benign Seizures
Neuronal_ceroid_lipofuscinosis
not_specified
Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive
not_provided		 0.02693 0.01298 HET Link to ClinVar
768620 702735 Benign not_provided . . HOM Link to ClinVar
768621 702736 Benign not_provided . . HOM Link to ClinVar
226622 230450 Benign Waardenburg_syndrome
not_specified
Hirschsprung_Disease,_Recessive		 0.5799 0.54473 HET Link to ClinVar
226625 230453 Benign not_specified 0.99488 0.98383 HOM Link to ClinVar
506089 497033 Benign not_specified 0.72103 0.75 HET Link to ClinVar
312529 337079 Benign Omodysplasia . 0.39357 HOM Link to ClinVar
312547 320094 Benign Omodysplasia_1
Omodysplasia		 0.21057 0.17093 HET Link to ClinVar
312560 328645 Benign Omodysplasia . . HET Link to ClinVar
312577 335285 Benign Omodysplasia . 0.1891 HET Link to ClinVar
312598 337158 Benign Omodysplasia . 0.1899 HET Link to ClinVar
312602 328704 Benign Omodysplasia . 0.88139 HET Link to ClinVar
225959 227778 drug_response tenofovir_response_-_Metabolism/PK 0.81214 0.79433 HOM Link to ClinVar
402794 390093 Benign not_specified 0.04482 0.03015 HET Link to ClinVar
95446 101345 Benign not_specified 0.07992 0.04173 HET Link to ClinVar
669662 667117 Benign not_provided . . HET Link to ClinVar
669947 667042 Benign not_provided . . HET Link to ClinVar
669953 666225 Benign not_provided . . HET Link to ClinVar
92765 98672 Benign Propionyl-CoA_carboxylase_deficiency
not_specified
not_provided		 0.97702 0.91594 HOM Link to ClinVar
255734 254773 Benign not_specified 0.69662 0.55272 HOM Link to ClinVar
676165 666233 Benign not_provided . . HET Link to ClinVar
262253 254785 Benign not_specified
not_provided		 0.00864 0.00399 HET Link to ClinVar
262252 254786 Benign not_specified 0.49099 0.52177 HET Link to ClinVar
262250 254788 Benign not_specified 0.2858 0.19229 HET Link to ClinVar
310903 333317 Benign Xeroderma_pigmentosum . 0.6889 HOM Link to ClinVar
310904 318811 Benign Xeroderma_pigmentosum . 0.29792 HET Link to ClinVar
129009 134455 Benign Xeroderma_pigmentosum
Xeroderma_pigmentosum,_group_G
not_specified		 0.5291 0.49301 HET Link to ClinVar
255161 254793 Benign Xeroderma_pigmentosum
Xeroderma_pigmentosum,_group_G
not_specified		 0.4513 0.31709 HET Link to ClinVar
134172 137911 Benign Xeroderma_pigmentosum,_group_G
not_specified		 . 0.9982 HOM Link to ClinVar
134173 137912 not_provided not_specified . 0.9972 HOM Link to ClinVar
129011 134457 Benign Xeroderma_pigmentosum
Xeroderma_pigmentosum,_group_G
not_specified		 0.27768 0.36142 HET Link to ClinVar
310945 318841 Benign Xeroderma_pigmentosum . 0.54952 HET Link to ClinVar
403446 390031 Benign not_specified 0.86099 0.84026 HOM Link to ClinVar
310948 318850 Likely_benign Lig4_syndrome
Severe_combined_immunodeficiency_with_sensitivity_to_ionizing_radiation		 . 0.12979 HET Link to ClinVar
8820 23859 risk_factor DIABETES,_TYPE_II,_SUSCEPTIBILITY_TO 0.38205 0.28335 HET Link to ClinVar
768633 702582 Likely_benign not_provided . . HET Link to ClinVar
258255 254798 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 0.37559 0.30791 HOM Link to ClinVar
197520 194681 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 . 0.28834 HOM Link to ClinVar
258251 254801 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 0.3515 0.31789 HET Link to ClinVar
258250 254802 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 . 0.31809 HET Link to ClinVar
258249 254803 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 0.34768 0.30711 HET Link to ClinVar
258248 254804 Benign not_specified 0.11525 0.08167 HET Link to ClinVar
258247 254805 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 1 1 HOM Link to ClinVar
258266 254807 Benign not_specified 0.61933 0.59345 HOM Link to ClinVar
258265 254808 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 0.62224 0.59645 HOM Link to ClinVar
258262 254810 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 0.62105 0.59605 HOM Link to ClinVar
258261 254811 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 . 0.86122 HOM Link to ClinVar
258254 254813 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 0.46723 0.47284 HOM Link to ClinVar
198472 195633 Benign/Likely_benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
not_provided		 0.00719 0.00659 HET Link to ClinVar
258264 254814 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 0.19072 0.1899 HET Link to ClinVar
193216 190381 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified		 0.48236 0.42412 HET Link to ClinVar
311087 335235 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage		 . 0.248 HET Link to ClinVar
311089 333543 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage		 . 0.61502 HET Link to ClinVar
311090 327337 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage		 . 0.30891 HET Link to ClinVar
311091 327338 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage		 . 0.50939 HET Link to ClinVar
311092 333546 Benign Porencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage		 . 0.30611 HET Link to ClinVar
311096 335259 Benign Porencephalic_cyst 0.96135 0.94269 HOM Link to ClinVar
311117 333580 Benign Porencephalic_cyst
not_provided		 0.51372 0.48283 HET Link to ClinVar
311119 333585 Benign Porencephalic_cyst
not_provided		 0.31443 0.23862 HET Link to ClinVar
311120 318936 Benign Porencephalic_cyst
not_provided		 0.33824 0.24681 HET Link to ClinVar
311128 333595 Benign Porencephalic_cyst
not_provided		 0.52883 0.49141 HOM Link to ClinVar
311129 333604 Benign Porencephalic_cyst
not_provided		 0.53895 0.50919 HOM Link to ClinVar
311134 333615 Benign Porencephalic_cyst
not_provided		 0.53833 0.51398 HOM Link to ClinVar
311145 318982 Benign Porencephalic_cyst
not_provided		 0.25539 0.1909 HOM Link to ClinVar
311151 335312 Benign Porencephalic_cyst
not_provided		 0.31003 0.24641 HET Link to ClinVar
311153 327386 Benign Porencephalic_cyst
not_provided		 0.15696 0.1258 HET Link to ClinVar
311171 333642 Benign Porencephalic_cyst
not_provided		 . 0.1863 HET Link to ClinVar
311180 333651 Benign Porencephalic_cyst
not_provided		 0.83291 0.752 HOM Link to ClinVar
311183 319027 Benign Porencephalic_cyst
not_provided		 0.10098 0.10084 HET Link to ClinVar
311188 335349 Likely_benign Porencephalic_cyst 0.00135 0.00559 HET Link to ClinVar
311190 327437 Benign/Likely_benign Porencephalic_cyst
not_provided		 0.00136 0.00559 HET Link to ClinVar
311200 327453 Benign Porencephalic_cyst . 0.46625 HET Link to ClinVar
311201 335357 Benign Porencephalic_cyst . . HET Link to ClinVar
683459 666983 Benign not_provided . . HOM Link to ClinVar
683458 667067 Benign not_provided . . HOM Link to ClinVar
683456 667070 Benign not_provided . . HOM Link to ClinVar
683455 666992 Benign not_provided . . HOM Link to ClinVar
379949 372639 Benign not_specified 0.8022 0.76238 HOM Link to ClinVar
683447 667351 Benign not_provided . . HOM Link to ClinVar
256307 254819 Benign not_specified 0.8359 0.80272 HOM Link to ClinVar
256308 254820 Benign Factor_X_deficiency
not_specified		 . 0.6232 HOM Link to ClinVar
138729 142432 Benign/Likely_benign Purine-nucleoside_phosphorylase_deficiency
not_specified		 0.1664 0.17213 HET Link to ClinVar
13992 29031 Benign NUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM
Purine-nucleoside_phosphorylase_deficiency
not_specified		 0.19196 0.20467 HET Link to ClinVar
138730 142433 Benign/Likely_benign Purine-nucleoside_phosphorylase_deficiency
not_specified		 0.19324 0.20447 HET Link to ClinVar
312730 320249 Benign Purine-nucleoside_phosphorylase_deficiency
not_specified		 0.19433 0.20228 HET Link to ClinVar
312745 328812 Benign Purine-nucleoside_phosphorylase_deficiency . 0.97744 HOM Link to ClinVar
312749 335445 Likely_benign Purine-nucleoside_phosphorylase_deficiency . 0.03714 HET Link to ClinVar
312750 328815 Likely_benign Purine-nucleoside_phosphorylase_deficiency . 0.17033 HET Link to ClinVar
312751 337323 Likely_benign Purine-nucleoside_phosphorylase_deficiency . 0.20527 HET Link to ClinVar
312758 328851 Benign Purine-nucleoside_phosphorylase_deficiency . 0.32228 HET Link to ClinVar
312768 320277 Likely_benign Amyotrophic_Lateral_Sclerosis,_Dominant . 0.09784 HET Link to ClinVar
99827 105716 Benign Leber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided		 0.54801 0.47724 HET Link to ClinVar
4987 20026 Benign/Likely_benign Leber_congenital_amaurosis
Cone-rod_dystrophy_13
Leber_congenital_amaurosis_1
not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided		 0.21049 0.16733 HET Link to ClinVar
99812 105701 Benign/Likely_benign Leber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided		 0.21258 0.1847 HET Link to ClinVar
261227 254910 Benign/Likely_benign Leber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Recessive		 0.19715 0.14517 HET Link to ClinVar
261228 254911 Benign Leber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Recessive		 0.33731 0.29533 HET Link to ClinVar
587786 579920 Benign History_of_neurodevelopmental_disorder 0.90926 0.90735 HOM Link to ClinVar
403461 390596 Benign not_specified . . HET Link to ClinVar
139197 142900 Benign Lysinuric_protein_intolerance
not_specified		 0.8651 0.78554 HET Link to ClinVar
684066 667572 Benign not_provided . . HET Link to ClinVar
380186 373723 Benign Lysinuric_protein_intolerance
not_specified		 0.01225 0.00419 HET Link to ClinVar
139198 142901 Benign Lysinuric_protein_intolerance
not_specified		 0.6073 0.60603 HET Link to ClinVar
684063 666498 Benign not_provided . . HET Link to ClinVar
312832 337424 Benign Lysinuric_protein_intolerance 0.52939 0.57808 HET Link to ClinVar
312835 335556 Likely_benign Lysinuric_protein_intolerance . 0.11701 HET Link to ClinVar
312838 335564 Likely_benign Lysinuric_protein_intolerance . 0.11701 HET Link to ClinVar
258710 254919 Benign not_specified 0.49574 0.47165 HET Link to ClinVar
36628 45290 Conflicting_interpretations_of_pathogenicity Atrial_septal_defect
Cardiomyopathy
Hypertrophic_cardiomyopathy
not_specified
Dilated_Cardiomyopathy,_Dominant
not_provided		 . . HET Link to ClinVar
44544 53711 Benign/Likely_benign Atrial_septal_defect
Hypertrophic_cardiomyopathy
not_specified
Dilated_Cardiomyopathy,_Dominant		 0.75651 0.78494 HET Link to ClinVar
188649 186460 Benign/Likely_benign Hypertrophic_cardiomyopathy
Scapuloperoneal_myopathy
Left_ventricular_noncompaction_cardiomyopathy
Myosin_storage_myopathy
Myopathy,_distal,_1
not_specified
Dilated_Cardiomyopathy,_Dominant		 0.00496 0.0014 HET Link to ClinVar
667619 667431 Benign not_provided . . HET Link to ClinVar
43116 52286 Benign Cardiomyopathy
Hypertrophic_cardiomyopathy
Scapuloperoneal_myopathy
Left_ventricular_noncompaction_cardiomyopathy
Myosin_storage_myopathy
Myopathy,_distal,_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.02085 0.01458 HET Link to ClinVar
42869 52039 Benign Cardiomyopathy
Hypertrophic_cardiomyopathy
Scapuloperoneal_myopathy
Left_ventricular_noncompaction_cardiomyopathy
Myosin_storage_myopathy
Myopathy,_distal,_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.48885 0.52037 HET Link to ClinVar
312935 335678 Likely_benign Retinitis_Pigmentosa,_Dominant . 0.41713 HOM Link to ClinVar
803011 791396 Benign Phosphoenolpyruvate_carboxykinase_deficiency,_mitochondrial . . HOM Link to ClinVar
769857 702849 Likely_benign not_provided . . HET Link to ClinVar
769858 702850 Benign not_provided . . HET Link to ClinVar
769859 702851 Benign not_provided . . HET Link to ClinVar
177681 176082 Benign not_specified
not_provided		 . 0.21386 HET Link to ClinVar
226525 230521 Benign Deafness,_autosomal_dominant_9
not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.54915 0.41134 HET Link to ClinVar
226528 230525 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.06591 0.07169 HET Link to ClinVar
669811 667323 Benign not_provided . . HOM Link to ClinVar
680071 667452 Benign not_provided . . HET Link to ClinVar
683212 667453 Benign not_provided . . HOM Link to ClinVar
683233 666544 Benign not_provided . . HOM Link to ClinVar
671489 666547 Benign not_provided . . HET Link to ClinVar
683234 667455 Benign not_provided . . HET Link to ClinVar
669937 666548 Benign not_provided . . HET Link to ClinVar
683237 667460 Benign not_provided . . HET Link to ClinVar
669941 667648 Benign not_provided . . HET Link to ClinVar
669526 666554 Benign not_provided . . HET Link to ClinVar
313032 337651 Likely_benign Mitochondrial_complex_I_deficiency . 0.0625 HET Link to ClinVar
313046 329185 Benign Mitochondrial_complex_I_deficiency . 0.60503 HET Link to ClinVar
313067 337727 Benign Mitochondrial_complex_I_deficiency . 0.48602 HET Link to ClinVar
313068 320435 Benign Mitochondrial_complex_I_deficiency . 0.48602 HET Link to ClinVar
313072 329216 Benign Mitochondrial_complex_I_deficiency . 0.4976 HET Link to ClinVar
313079 335822 Benign Nemaline_Myopathy,_Recessive 0.24689 0.27596 HET Link to ClinVar
313082 320449 Benign Nemaline_Myopathy,_Recessive 0.41304 0.34205 HET Link to ClinVar
313083 329225 Benign Nemaline_Myopathy,_Recessive . . HOM Link to ClinVar
313088 337734 Benign Nemaline_Myopathy,_Recessive 0.24622 0.27616 HET Link to ClinVar
313094 329237 Benign Nemaline_Myopathy,_Recessive 0.2563 0.3099 HET Link to ClinVar
673808 667337 Benign not_provided . . HET Link to ClinVar
681265 667658 Benign not_provided . . HET Link to ClinVar
668881 667664 Benign not_provided . . HET Link to ClinVar
668071 667472 Benign not_provided . . HOM Link to ClinVar
6796 21835 risk_factor Myocardial_infarction . 0.1903 HET Link to ClinVar
313105 337761 Benign Ectodermal_dysplasia_and_immunodeficiency_2
not_provided		 . 0.45567 HOM Link to ClinVar
313108 329242 Benign Ectodermal_dysplasia_and_immunodeficiency_2
not_specified		 0.4011 0.44788 HOM Link to ClinVar
313117 329256 Benign Ectodermal_dysplasia_and_immunodeficiency_2
not_specified		 0.34309 0.24441 HOM Link to ClinVar
313128 335868 Uncertain_significance Benign_hereditary_chorea
Choreoathetosis,_hypothyroidism,_and_neonatal_respiratory_distress		 . . . Link to ClinVar
313133 320501 Benign Benign_hereditary_chorea
Choreoathetosis,_hypothyroidism,_and_neonatal_respiratory_distress		 . 0.62181 HET Link to ClinVar
313149 329293 Benign Benign_hereditary_chorea
Choreoathetosis,_hypothyroidism,_and_neonatal_respiratory_distress		 . 0.10803 HET Link to ClinVar
313152 337831 Likely_benign Selective_tooth_agenesis . . HET Link to ClinVar
313155 337835 Likely_benign Selective_tooth_agenesis . 0.3762 HET Link to ClinVar
259937 254940 Benign/Likely_benign Selective_tooth_agenesis
Tooth_agenesis,_selective,_3
not_specified		 0.43249 0.33167 HET Link to ClinVar
683729 656251 Benign not_provided . . HOM Link to ClinVar
261385 254947 Benign/Likely_benign Fanconi_anemia
not_specified		 0.02531 0.01298 HET Link to ClinVar
261391 254952 Benign/Likely_benign Fanconi_anemia
not_specified		 . 0.00859 HET Link to ClinVar
313249 320629 Benign Primary_ciliary_dyskinesia
Congenital_disorder_of_glycosylation		 0.4935 0.29533 HET Link to ClinVar
313270 329433 Benign Primary_ciliary_dyskinesia
Congenital_disorder_of_glycosylation		 . 0.54153 HET Link to ClinVar
163091 175940 Benign Primary_ciliary_dyskinesia
Congenital_disorder_of_glycosylation
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided		 0.451 0.30871 HET Link to ClinVar
261017 254955 Benign not_specified 0.6384 0.54193 HET Link to ClinVar
95892 101788 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided		 0.64859 0.48822 HET Link to ClinVar
95891 101787 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided		 0.61346 0.5591 HET Link to ClinVar
95894 101790 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided		 0.65251 0.49341 HET Link to ClinVar
95893 101789 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided		 . 0.49321 HET Link to ClinVar
517059 505456 Benign not_specified . . HOM Link to ClinVar
561523 552772 Benign not_provided . 0.85383 HOM Link to ClinVar
561524 552774 Benign not_provided . 0.53015 HOM Link to ClinVar
561606 552781 Benign not_provided . 0.24141 HOM Link to ClinVar
561604 552786 Benign not_provided . 0.84445 HOM Link to ClinVar
561838 552787 Benign not_provided . 0.85344 HOM Link to ClinVar
561605 552788 Benign not_provided . 0.2514 HOM Link to ClinVar
561538 552791 Benign not_provided . 0.88478 HOM Link to ClinVar
561518 552792 Benign not_provided 0.87162 0.85344 HOM Link to ClinVar
561537 552793 Benign not_provided . 0.83387 HOM Link to ClinVar
561603 552794 Benign not_provided . 0.85344 HOM Link to ClinVar
561602 552795 Benign not_provided . 0.83387 HOM Link to ClinVar
384710 376065 Benign not_provided 0.62145 0.51837 HOM Link to ClinVar
561601 552796 Benign not_provided . 0.2472 HOM Link to ClinVar
561632 552800 Likely_benign not_provided . . HET Link to ClinVar
561599 552804 Benign not_provided 0.87161 0.85304 HOM Link to ClinVar
561871 552806 Benign not_provided . 0.52276 HOM Link to ClinVar
561836 552807 Benign not_provided . 0.89317 HOM Link to ClinVar
561597 552808 Benign not_provided . 0.99481 HOM Link to ClinVar
561531 552812 Benign not_provided . 0.89257 HOM Link to ClinVar
561868 552824 Benign not_provided . 0.2472 HOM Link to ClinVar
561835 552825 Benign not_provided . 0.83706 HOM Link to ClinVar
561593 552827 Benign not_provided . . HOM Link to ClinVar
561541 552830 Benign not_provided . 0.53614 HOM Link to ClinVar
561590 552832 Benign not_provided . 0.85204 HOM Link to ClinVar
561865 552834 Benign not_provided . 0.248 HOM Link to ClinVar
561519 552835 Benign not_provided 0.88328 0.85783 HOM Link to ClinVar
383779 376072 Benign not_provided 0.34372 0.24201 HOM Link to ClinVar
158797 169064 Likely_benign not_specified 0.43767 0.41713 HET Link to ClinVar
158801 169066 Likely_benign not_specified 0.53959 0.50479 HOM Link to ClinVar
158798 169068 Benign/Likely_benign not_specified
not_provided		 0.5701 0.59665 HOM Link to ClinVar
158799 169070 Benign/Likely_benign not_specified
not_provided		 0.59991 0.57268 HOM Link to ClinVar
678056 666568 Benign not_provided . . HOM Link to ClinVar
678057 667341 Benign not_provided . . HOM Link to ClinVar
21530 34382 Benign Spastic_paraplegia_3
not_specified
Spastic_paraplegia,_autosomal_dominant
not_provided		 0.76327 0.82149 HET Link to ClinVar
678058 667345 Benign not_provided . . HET Link to ClinVar
670498 667348 Benign not_provided . . HET Link to ClinVar
670499 667481 Benign not_provided . . HET Link to ClinVar
678059 666571 Benign not_provided . . HET Link to ClinVar
668735 666574 Benign not_provided . . HET Link to ClinVar
670500 667665 Benign not_provided . . HET Link to ClinVar
678069 667486 Benign not_provided . . HET Link to ClinVar
678070 666578 Benign not_provided . . HET Link to ClinVar
678071 667670 Benign not_provided . . HET Link to ClinVar
678072 667349 Benign not_provided . . HET Link to ClinVar
670501 667356 Benign not_provided . . HET Link to ClinVar
129797 135243 Likely_benign not_specified 0.50442 0.50879 HET Link to ClinVar
129796 135242 Likely_benign not_specified 0.99757 0.99261 HOM Link to ClinVar
194884 192046 Benign Seckel_syndrome_7
not_specified		 0.74536 0.76438 HET Link to ClinVar
281107 265344 Benign Seckel_syndrome_7
not_specified		 0.75326 0.78494 HET Link to ClinVar
129787 135233 Likely_benign not_specified 0.22719 0.1863 HET Link to ClinVar
129784 135230 Likely_benign not_specified 0.01605 0.00899 HET Link to ClinVar
129779 135225 Likely_benign not_specified 0.62067 0.57728 HOM Link to ClinVar
129803 135249 Likely_benign not_specified . 0.99241 HOM Link to ClinVar
258828 254969 Benign Glycogen_storage_disease,_type_VI
not_specified
not_provided		 . . HET Link to ClinVar
258829 254970 Benign Glycogen_storage_disease,_type_VI
not_specified
not_provided		 0.23569 0.251 HET Link to ClinVar
258838 254975 Likely_benign not_specified
not_provided		 . . HET Link to ClinVar
194627 191790 Benign Glycogen_storage_disease,_type_VI
not_specified
not_provided		 . . HET Link to ClinVar
258830 254983 Benign Glycogen_storage_disease,_type_VI
not_specified
not_provided		 0.22529 0.23542 HET Link to ClinVar
668115 667674 Benign not_provided . . HOM Link to ClinVar
679273 667358 Benign not_provided . . HOM Link to ClinVar
379963 374264 Benign not_specified . 0.81769 HOM Link to ClinVar
679272 666585 Benign not_provided . . HOM Link to ClinVar
379962 376096 Benign not_specified 0.84551 0.7522 HOM Link to ClinVar
221131 222375 Benign not_specified
not_provided		 . . HOM Link to ClinVar
379960 374268 Benign not_specified . 0.7504 HOM Link to ClinVar
197190 194351 Benign/Likely_benign Microphthalmia_syndromic_6
Orofacial_cleft
not_specified
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
BMP4-Related_Syndromic_Microphthalmia
Syndromic_Microphthalmia,_Dominant
not_provided		 0.45702 0.32568 HET Link to ClinVar
430718 424257 association Lip_and_oral_cavity_carcinoma . 0.40296 HET Link to ClinVar
313367 320709 Benign GTP_cyclohydrolase_I_deficiency
Dystonia,_dopa-responsive		 . 0.03375 HET Link to ClinVar
313378 336167 Benign GTP_cyclohydrolase_I_deficiency
Dystonia,_dopa-responsive		 . 0.07408 HET Link to ClinVar
313404 336185 Benign GTP_cyclohydrolase_I_deficiency
Dystonia,_dopa-responsive		 . 0.94569 HOM Link to ClinVar
803031 791416 Benign Joubert_syndrome_23 . . HOM Link to ClinVar
313426 329589 Benign Anophthalmia_-_microphthalmia . 0.82488 HOM Link to ClinVar
260163 254993 Benign Cataract,_microphthalmia_and_nystagmus
not_specified
Anophthalmia_-_microphthalmia		 0.51526 0.34145 HOM Link to ClinVar
313436 329623 Benign Anophthalmia_-_microphthalmia . 0.80332 HOM Link to ClinVar
313450 338147 Benign Branchiootorenal_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 . . HOM Link to ClinVar
313459 338171 Benign Branchiootorenal_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.77117 HOM Link to ClinVar
130501 135947 Benign Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.81178 0.67891 HOM Link to ClinVar
130503 135949 Benign Emery-Dreifuss_muscular_dystrophy
not_specified		 . 0.752 HOM Link to ClinVar
130504 135950 Benign Emery-Dreifuss_muscular_dystrophy
not_specified		 0.81219 0.67193 HOM Link to ClinVar
130508 135954 Benign Emery-Dreifuss_muscular_dystrophy
not_specified		 0.82093 0.70248 HOM Link to ClinVar
130511 135957 Benign Emery-Dreifuss_muscular_dystrophy
not_specified		 0.89238 0.83726 HOM Link to ClinVar
130513 135959 Benign Emery-Dreifuss_muscular_dystrophy
Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant
not_specified		 0.90676 0.86182 HOM Link to ClinVar
130516 135962 Benign Emery-Dreifuss_muscular_dystrophy
not_specified		 . 0.66514 HOM Link to ClinVar
130520 135966 Benign Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided		 0.80763 0.68131 HOM Link to ClinVar
130521 135967 Benign Emery-Dreifuss_muscular_dystrophy
not_specified		 . 0.68231 HOM Link to ClinVar
130488 135934 Benign Emery-Dreifuss_muscular_dystrophy
Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant
not_specified
not_provided		 0.3943 0.48702 HET Link to ClinVar
130489 135935 Benign Emery-Dreifuss_muscular_dystrophy
Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant
not_specified		 0.47016 0.58327 HET Link to ClinVar
130490 135936 Benign Emery-Dreifuss_muscular_dystrophy
not_specified		 0.24095 0.20967 HET Link to ClinVar
281196 265433 Benign not_specified
not_provided		 . 0.6883 HET Link to ClinVar
313681 320910 Benign Emery-Dreifuss_muscular_dystrophy . 0.6895 HET Link to ClinVar
313684 329957 Benign Emery-Dreifuss_muscular_dystrophy . 0.6909 HET Link to ClinVar
403114 390190 Benign not_specified 0.83308 0.82348 HOM Link to ClinVar
13633 28672 Benign Neural_tube_defects,_folate-sensitive,_susceptibility_to
not_specified		 0.4354 0.34185 HET Link to ClinVar
257120 255009 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 . 0.41054 HET Link to ClinVar
257119 255010 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.28092 0.41154 HET Link to ClinVar
257118 255011 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.28136 0.41194 HET Link to ClinVar
257117 255012 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.34944 0.44509 HET Link to ClinVar
257115 255014 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 . 0.10164 HET Link to ClinVar
257108 255019 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.33811 0.46945 HET Link to ClinVar
257102 255024 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.39165 0.45028 HET Link to ClinVar
257098 255027 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.38036 0.46685 HOM Link to ClinVar
257097 255028 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.26385 0.28135 HET Link to ClinVar
257138 255029 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.32605 0.3734 HET Link to ClinVar
257106 255034 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.36932 0.46605 HOM Link to ClinVar
257099 255035 Benign/Likely_benign Elliptocytosis
not_specified
Spherocytosis,_Dominant		 0.05344 0.06809 HET Link to ClinVar
313793 330076 Benign Pheochromocytoma . 0.51338 HOM Link to ClinVar
313801 338566 Benign Pheochromocytoma . 0.54593 HOM Link to ClinVar
313802 338569 Benign Pheochromocytoma . 0.51478 HOM Link to ClinVar
313807 320994 Benign Pheochromocytoma . 0.51178 HOM Link to ClinVar
676931 667677 Benign not_provided . . HET Link to ClinVar
402887 390197 Benign not_specified
not_provided		 0.70457 0.75679 HET Link to ClinVar
261355 255036 Benign not_specified 0.26611 0.45028 HET Link to ClinVar
313851 330125 Benign Spastic_Paraplegia,_Recessive . 0.95008 HOM Link to ClinVar
313852 321033 Benign Spastic_Paraplegia,_Recessive . 0.95008 HOM Link to ClinVar
313853 336646 Benign Spastic_Paraplegia,_Recessive . 0.3135 HET Link to ClinVar
313866 338611 Benign Spastic_Paraplegia,_Recessive . 0.49401 HET Link to ClinVar
130783 136229 Benign not_specified
Spastic_Paraplegia,_Recessive
not_provided		 0.95458 0.90316 HOM Link to ClinVar
669987 667498 Benign not_provided . . HET Link to ClinVar
670343 667369 Benign not_provided . . HET Link to ClinVar
667592 667370 Benign not_provided . . HOM Link to ClinVar
669979 666593 Benign not_provided . . HET Link to ClinVar
313905 338688 Benign/Likely_benign not_specified
Spastic_Paraplegia,_Recessive
not_provided		 0.01389 0.02716 HET Link to ClinVar
669978 667503 Benign not_provided . . HET Link to ClinVar
695138 684516 Benign not_provided . . HET Link to ClinVar
678188 666604 Benign not_provided . . HET Link to ClinVar
669974 667511 Benign not_provided . . HET Link to ClinVar
257188 255038 Benign not_specified 0.2497 0.21705 HET Link to ClinVar
257189 255039 Benign not_specified 0.20125 0.20567 HET Link to ClinVar
257190 255040 Benign not_specified 0.20068 0.20567 HET Link to ClinVar
254714 255043 Benign not_specified 0.62799 0.67153 HET Link to ClinVar
313956 338754 Likely_benign Early-Onset_Familial_Alzheimer_Disease
Dilated_Cardiomyopathy,_Dominant		 . 0.02117 HET Link to ClinVar
313960 330249 Likely_benign Early-Onset_Familial_Alzheimer_Disease
Dilated_Cardiomyopathy,_Dominant		 . 0.14597 HET Link to ClinVar
313962 336732 Likely_benign Early-Onset_Familial_Alzheimer_Disease
Dilated_Cardiomyopathy,_Dominant		 . 0.67033 HET Link to ClinVar
684519 672091 Benign not_provided . . HET Link to ClinVar
314060 321179 Benign Primary_ciliary_dyskinesia . 0.86661 HET Link to ClinVar
314069 321192 Benign Primary_ciliary_dyskinesia . 0.86661 HET Link to ClinVar
314082 321202 Likely_benign Primary_ciliary_dyskinesia . 0.03654 HET Link to ClinVar
314084 321205 Likely_benign Primary_ciliary_dyskinesia . 0.28275 HET Link to ClinVar
314091 321210 Benign Primary_ciliary_dyskinesia . . HET Link to ClinVar
314095 321215 Likely_benign Primary_ciliary_dyskinesia . 0.09225 HET Link to ClinVar
314110 321229 Benign Primary_ciliary_dyskinesia . 0.86621 HET Link to ClinVar
314142 321236 Uncertain_significance Primary_ciliary_dyskinesia . . HET Link to ClinVar
314149 321248 Benign Primary_ciliary_dyskinesia . 0.86661 HET Link to ClinVar
314153 338910 Likely_benign Primary_ciliary_dyskinesia . 0.29553 HET Link to ClinVar
683565 667526 Benign not_provided . . HOM Link to ClinVar
669472 667703 Benign not_provided . . HET Link to ClinVar
683566 667704 Benign not_provided . . HOM Link to ClinVar
128835 134283 Benign not_specified
not_provided		 0.32813 0.1849 HET Link to ClinVar
136982 140685 Benign not_specified . . HOM Link to ClinVar
128834 134282 Benign not_specified
not_provided		 0.43463 0.34545 HOM Link to ClinVar
314161 321265 Benign Methylmalonate_semialdehyde_dehydrogenase_deficiency . 0.32248 HET Link to ClinVar
314165 338925 Benign Methylmalonate_semialdehyde_dehydrogenase_deficiency . 0.24161 HET Link to ClinVar
314166 321269 Benign Methylmalonate_semialdehyde_dehydrogenase_deficiency . 0.99301 HOM Link to ClinVar
314178 338938 Benign Methylmalonate_semialdehyde_dehydrogenase_deficiency 0.4111 0.53674 HET Link to ClinVar
167840 178152 Benign Microphthalmia,_isolated_6
not_specified
VSX2-related_Microphthalmia		 0.42166 0.25998 HET Link to ClinVar
259619 255050 Benign not_specified 0.32759 0.27037 HET Link to ClinVar
259622 255051 Benign not_specified 0.32435 0.26298 HET Link to ClinVar
259621 255052 Benign not_specified 0.32852 0.27037 HET Link to ClinVar
259620 255053 Benign METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cblJ_TYPE
not_specified		 . 0.26258 HET Link to ClinVar
314254 337136 Likely_benign Primary_congenital_glaucoma
Weill-Marchesani_syndrome		 . 0.29992 HET Link to ClinVar
770997 702989 Benign not_provided . . HET Link to ClinVar
314328 330581 Uncertain_significance Leukoencephalopathy_with_vanishing_white_matter . . HET Link to ClinVar
260365 255061 Benign not_specified 0.99563 0.98602 HOM Link to ClinVar
314342 339147 Benign/Likely_benign Lynch_syndrome
Leukoencephalopathy_with_vanishing_white_matter		 . 0.51757 HET Link to ClinVar
314345 337219 Benign/Likely_benign Lynch_syndrome
Leukoencephalopathy_with_vanishing_white_matter		 . 0.36522 HET Link to ClinVar
314351 339162 Likely_benign Lynch_syndrome . 0.34525 HET Link to ClinVar
314356 337227 Likely_benign Lynch_syndrome . 0.33566 HET Link to ClinVar
314361 330620 Likely_benign Lynch_syndrome . . HET Link to ClinVar
314364 321382 Uncertain_significance Lynch_syndrome . . HET Link to ClinVar
257253 255063 Benign/Likely_benign Lynch_syndrome
not_specified		 0.56344 0.58007 HET Link to ClinVar
257252 255064 Benign/Likely_benign Lynch_syndrome
not_specified		 0.41264 0.36382 HET Link to ClinVar
257251 255065 Benign/Likely_benign Lynch_syndrome
not_specified		 0.9968 0.99042 HOM Link to ClinVar
314404 339228 Benign Proliferative_vasculopathy_and_hydranencephaly-hydrocephaly_syndrome . . HOM Link to ClinVar
95817 101714 Benign/Likely_benign Proliferative_vasculopathy_and_hydranencephaly-hydrocephaly_syndrome
not_specified		 0.16758 0.17931 HOM Link to ClinVar
677189 656263 Benign not_provided . . HOM Link to ClinVar
677190 667379 Benign not_provided . . HOM Link to ClinVar
677191 666618 Benign not_provided . . HOM Link to ClinVar
683994 667710 Benign not_provided . . HOM Link to ClinVar
683992 667392 Benign not_provided . . HOM Link to ClinVar
314470 337337 Benign Cranioectodermal_dysplasia 0.26074 0.16893 HET Link to ClinVar
45002 54169 Benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.99862 0.99281 HOM Link to ClinVar
314496 337357 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.39996 HET Link to ClinVar
314507 321465 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.29133 HET Link to ClinVar
314519 339428 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.10943 HET Link to ClinVar
314520 321479 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.85224 HOM Link to ClinVar
314525 337398 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.14836 HET Link to ClinVar
314526 339435 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.85583 HOM Link to ClinVar
314531 321492 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.51158 HET Link to ClinVar
314536 337416 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.51098 HET Link to ClinVar
314545 330773 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.14437 HET Link to ClinVar
314552 339471 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . 0.26857 HET Link to ClinVar
166901 177616 Benign not_specified 0.81764 0.84705 HOM Link to ClinVar
668039 667724 Benign not_provided . . HET Link to ClinVar
260297 255069 Benign/Likely_benign not_specified
not_provided		 . 0.17851 HET Link to ClinVar
671546 666659 Benign not_provided . . HET Link to ClinVar
670967 667746 Benign not_provided . . HET Link to ClinVar
674164 666664 Benign not_provided . . HET Link to ClinVar
673022 667749 Benign not_provided . . HET Link to ClinVar
668036 667760 Benign not_provided . . HOM Link to ClinVar
166906 177620 Benign not_specified 0.82082 0.85823 HOM Link to ClinVar
260290 255076 Benign not_specified
not_provided		 . 0.47644 HET Link to ClinVar
95533 101432 Benign not_specified 0.07969 0.11042 HET Link to ClinVar
683960 667544 Benign not_provided . . HET Link to ClinVar
683955 667766 Benign not_provided . . HET Link to ClinVar
673021 666670 Benign not_provided . . HET Link to ClinVar
668016 666673 Benign not_provided . . HET Link to ClinVar
673020 667779 Benign not_provided . . HET Link to ClinVar
95536 101435 Benign/Likely_benign not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive		 0.12305 0.08307 HET Link to ClinVar
314565 321504 Benign/Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 . 0.05212 HET Link to ClinVar
194886 192048 Benign not_specified
not_provided		 0.00634 0.00319 HET Link to ClinVar
314584 330820 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC . 0.85124 HOM Link to ClinVar
314585 321535 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC . 0.94509 HOM Link to ClinVar
314589 330822 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC . 0.59625 HOM Link to ClinVar
314603 330839 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC . 0.76897 HOM Link to ClinVar
314604 321542 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC . 0.94748 HOM Link to ClinVar
314606 337479 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC . 0.77616 HOM Link to ClinVar
314628 330855 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC . 0.76058 HOM Link to ClinVar
670140 667550 Benign not_provided . . HOM Link to ClinVar
670586 667792 Benign not_provided . . HOM Link to ClinVar
670138 667429 Benign not_provided . . HET Link to ClinVar
670570 666680 Benign not_provided . . HOM Link to ClinVar
670569 667440 Benign not_provided . . HET Link to ClinVar
670137 667563 Benign not_provided . . HET Link to ClinVar
314672 330884 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC
not_specified		 0.90294 0.83746 HET Link to ClinVar
670136 667565 Benign not_provided . . HOM Link to ClinVar
667523 667568 Benign not_provided . . HOM Link to ClinVar
670568 667802 Benign not_provided . . HOM Link to ClinVar
670567 667443 Benign not_provided . . HOM Link to ClinVar
314681 337525 Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC . 0.02776 HET Link to ClinVar
667522 667808 Benign not_provided . . HET Link to ClinVar
674092 667570 Benign not_provided . . HET Link to ClinVar
255954 255094 Benign not_specified . . HOM Link to ClinVar
135403 139142 not_provided not_specified . 0.61022 HOM Link to ClinVar
135400 139139 Benign/Likely_benign Congenital_hypothyroidism
Hyperthyroidism,_nonautoimmune
not_specified		 0.90038 0.89677 HOM Link to ClinVar
314705 339647 Likely_benign Congenital_hypothyroidism
Hyperthyroidism,_nonautoimmune		 . 0.84325 HOM Link to ClinVar
314708 339648 Likely_benign Congenital_hypothyroidism
Hyperthyroidism,_nonautoimmune		 . 0.28435 HET Link to ClinVar
314711 337591 Likely_benign Congenital_hypothyroidism
Hyperthyroidism,_nonautoimmune		 . 0.15575 HET Link to ClinVar
314716 330908 Likely_benign Congenital_hypothyroidism
Hyperthyroidism,_nonautoimmune		 . 0.29313 HET Link to ClinVar
314719 339661 Likely_benign Congenital_hypothyroidism
Hyperthyroidism,_nonautoimmune		 . 0.29353 HET Link to ClinVar
314727 339667 Benign Galactosylceramide_beta-galactosidase_deficiency . 0.48862 HET Link to ClinVar
314729 337616 Benign Galactosylceramide_beta-galactosidase_deficiency . 0.44788 HET Link to ClinVar
314731 337617 Benign Galactosylceramide_beta-galactosidase_deficiency . 0.48882 HET Link to ClinVar
314732 330918 Benign Galactosylceramide_beta-galactosidase_deficiency . 0.49341 HET Link to ClinVar
314734 339676 Benign Galactosylceramide_beta-galactosidase_deficiency . 0.9409 HOM Link to ClinVar
314736 339677 Benign Galactosylceramide_beta-galactosidase_deficiency 0.43628 0.44748 HET Link to ClinVar
314741 339688 Benign Galactosylceramide_beta-galactosidase_deficiency . 0.49341 HET Link to ClinVar
92500 98409 Benign Galactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided		 . 0.9407 HOM Link to ClinVar
680310 666692 Benign not_provided . . HOM Link to ClinVar
680307 667457 Benign not_provided . . HET Link to ClinVar
680306 666693 Benign not_provided . . HET Link to ClinVar
445792 439064 Likely_benign not_provided . . HET Link to ClinVar
92499 98408 Benign Galactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided		 0.98303 0.9409 HOM Link to ClinVar
92498 98407 Benign Galactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided		 . 0.9409 HOM Link to ClinVar
92497 98406 Benign,_other Galactosylceramide_beta-galactosidase_deficiency
not_specified		 0.4406 0.44748 HET Link to ClinVar
92496 98405 Benign Galactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided		 0.54129 0.48882 HET Link to ClinVar
682663 666696 Benign not_provided . . HOM Link to ClinVar
680304 667463 Benign not_provided . . HOM Link to ClinVar
680303 666699 Benign not_provided . . HOM Link to ClinVar
167118 177737 Benign not_specified 0.98319 0.94269 HOM Link to ClinVar
680302 667583 Benign not_provided . . HET Link to ClinVar
92494 98403 Benign Galactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided		 0.37337 0.36661 HET Link to ClinVar
680300 666701 Benign not_provided . . HOM Link to ClinVar
680299 667585 Benign not_provided . . HOM Link to ClinVar
92493 98402 Conflicting_interpretations_of_pathogenicity Abnormality_of_brain_morphology
Galactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided		 . . HOM Link to ClinVar
680298 667590 Benign not_provided . . HOM Link to ClinVar
680296 667593 Benign not_provided . . HOM Link to ClinVar
682662 667475 Benign not_provided . . HOM Link to ClinVar
801397 789778 Benign not_provided . . HOM Link to ClinVar
286866 271103 Benign/Likely_benign Leber_congenital_amaurosis
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided		 0.34728 0.40755 HET Link to ClinVar
130765 136211 Likely_benign not_specified 0.61878 0.48582 HOM Link to ClinVar
262516 255109 Benign not_specified 0.21153 0.1887 HOM Link to ClinVar
314807 337713 Benign Bardet-Biedl_syndrome
Retinitis_Pigmentosa,_Recessive		 . 0.19988 HOM Link to ClinVar
674613 656269 Benign not_provided . . HOM Link to ClinVar
683300 667831 Benign not_provided . . HOM Link to ClinVar
674614 667624 Benign not_provided . . HOM Link to ClinVar
668719 667628 Benign not_provided . . HOM Link to ClinVar
158118 167971 Benign not_specified 0.85241 0.80591 HOM Link to ClinVar
158110 167963 Benign not_specified 0.53036 0.49401 HET Link to ClinVar
713623 725855 Likely_benign not_provided . . HET Link to ClinVar
158099 167951 Benign not_specified 0.15955 0.16633 HET Link to ClinVar
158098 167950 Benign not_specified 0.53357 0.48043 HET Link to ClinVar
158120 167973 Benign not_specified . 0.36322 HET Link to ClinVar
683869 667834 Benign not_provided . . HET Link to ClinVar
683518 667632 Benign not_provided . . HOM Link to ClinVar
683516 666726 Benign not_provided . . HOM Link to ClinVar
163450 176093 Benign Macular_degeneration
not_specified
Cutis_Laxa,_Dominant/Recessive		 0.7609 0.78494 HOM Link to ClinVar
683515 666729 Benign not_provided . . HOM Link to ClinVar
672116 667644 Benign not_provided . . HET Link to ClinVar
667761 667904 Benign not_provided . . HET Link to ClinVar
128510 133959 Likely_benign not_specified 0.50276 0.56669 HET Link to ClinVar
1420 16459 association Skin/hair/eye_pigmentation,_variation_in,_6 . 0.26078 HOM Link to ClinVar
586377 577377 Benign not_provided 0.60317 0.4988 HOM Link to ClinVar
586376 577378 Benign not_provided 0.69198 0.58566 HOM Link to ClinVar
586378 577380 Benign not_provided . 0.36302 HET Link to ClinVar
315004 321840 Benign Alpha-1-antitrypsin_deficiency . 0.66254 HET Link to ClinVar
315008 331149 Likely_benign Alpha-1-antitrypsin_deficiency . 0.69629 HOM Link to ClinVar
315009 321853 Likely_benign Alpha-1-antitrypsin_deficiency . 0.46506 HET Link to ClinVar
315015 331152 Likely_benign Alpha-1-antitrypsin_deficiency . 0.27197 HET Link to ClinVar
315018 337963 Likely_benign Alpha-1-antitrypsin_deficiency . 0.2512 HET Link to ClinVar
17955 32994 Benign/Likely_benign PI_M1-ALA213
PI,_M1A
Alpha-1-antitrypsin_deficiency
not_specified		 0.22145 0.2494 HET Link to ClinVar
18051 33090 Benign ANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM
not_specified		 0.44802 0.39936 HET Link to ClinVar
315063 331201 Benign Pleuropulmonary_blastoma
not_provided		 . 0.17232 HET Link to ClinVar
315075 321892 Benign Pleuropulmonary_blastoma . 0.99002 HOM Link to ClinVar
315096 331225 Uncertain_significance Pleuropulmonary_blastoma . . HET Link to ClinVar
315098 321919 Benign Pleuropulmonary_blastoma
DICER1-related_pleuropulmonary_blastoma_cancer_predisposition_syndrome
not_specified		 . 0.90895 HET Link to ClinVar
516580 505595 Benign DICER1-related_pleuropulmonary_blastoma_cancer_predisposition_syndrome
not_specified
not_provided		 . 0.16574 HET Link to ClinVar
676815 667564 Benign not_provided . . HET Link to ClinVar
676814 667909 Benign not_provided . . HET Link to ClinVar
379974 373305 Benign not_specified 0.11975 0.08307 HET Link to ClinVar
402361 390143 Benign not_specified 0.40514 0.3151 HET Link to ClinVar
402363 390149 Benign not_specified 0.83842 0.88459 HOM Link to ClinVar
675686 667649 Benign not_provided . . HET Link to ClinVar
130731 136177 Benign Pontocerebellar_hypoplasia_type_1A
Pontoneocerebellar_hypoplasia
not_specified		 0.35647 0.28954 HET Link to ClinVar
680838 666770 Benign not_provided . . HET Link to ClinVar
670271 666774 Benign not_provided . . HET Link to ClinVar
670272 667566 Benign not_provided . . HET Link to ClinVar
680843 667569 Benign not_provided . . HOM Link to ClinVar
670273 667650 Benign not_provided . . HET Link to ClinVar
670274 667923 Benign not_provided . . HOM Link to ClinVar
672717 667925 Benign not_provided . . HET Link to ClinVar
672718 667656 Benign not_provided . . HET Link to ClinVar
680844 667931 Benign not_provided . . HET Link to ClinVar
680841 667933 Benign not_provided . . HET Link to ClinVar
675687 666781 Benign not_provided . . HET Link to ClinVar
668120 667499 Benign not_provided . . HOM Link to ClinVar
679356 667276 Benign not_provided . . HET Link to ClinVar
681359 666418 Benign not_provided . . HET Link to ClinVar
668900 667286 Benign not_provided . . HET Link to ClinVar
674056 667189 Benign not_provided . . HET Link to ClinVar
128929 134376 Benign/Likely_benign Charcot-Marie-Tooth_disease,_type_2
History_of_neurodevelopmental_disorder
not_specified
Spinocerebellar_Ataxia,_Dominant
Intellectual_Disability,_Dominant		 0.22921 0.34724 HET Link to ClinVar
679361 666440 Benign not_provided . . HET Link to ClinVar
128932 134379 Benign/Likely_benign Charcot-Marie-Tooth_disease,_type_2
not_specified
Spinocerebellar_Ataxia,_Dominant
Intellectual_Disability,_Dominant
not_provided		 0.23108 0.3145 HET Link to ClinVar
679362 667301 Benign not_provided . . HET Link to ClinVar
312672 335355 Likely_benign Charcot-Marie-Tooth_disease,_type_2
Spinocerebellar_Ataxia,_Dominant
Intellectual_Disability,_Dominant		 . 0.02796 HET Link to ClinVar
670710 666461 Benign not_provided . . HOM Link to ClinVar
670231 667506 Benign not_provided . . HOM Link to ClinVar
380890 373680 Benign not_specified 0.3627 0.30551 HOM Link to ClinVar
380873 375852 Benign not_specified 0.88334 0.86042 HOM Link to ClinVar
672257 667321 Benign not_provided . . HET Link to ClinVar
670741 666468 Benign not_provided . . HET Link to ClinVar
670742 667328 Benign not_provided . . HET Link to ClinVar
380901 374019 Benign not_specified 0.08604 0.10324 HET Link to ClinVar
380891 372957 Benign not_specified 0.28296 0.21486 HET Link to ClinVar
516666 504407 Benign not_specified . . HET Link to ClinVar
667549 667241 Benign not_provided . . HET Link to ClinVar
670743 667513 Benign not_provided . . HET Link to ClinVar
240924 241780 Benign Spastic_paraplegia_49,_autosomal_recessive
not_specified		 0.0183 0.00719 HET Link to ClinVar
670744 667339 Benign not_provided . . HET Link to ClinVar
672260 667346 Benign not_provided . . HET Link to ClinVar
379942 375870 Benign not_specified
not_provided		 . 0.23463 HOM Link to ClinVar
8944 23983 risk_factor Cutaneous_malignant_melanoma_6 0.30751 0.21685 HOM Link to ClinVar
261603 254882 Benign Focal_segmental_glomerulosclerosis
Focal_segmental_glomerulosclerosis_5
not_specified		 0.97825 0.98662 HOM Link to ClinVar
683640 667250 Benign not_provided . . HET Link to ClinVar
683641 667262 Benign not_provided . . HET Link to ClinVar
261606 254892 Benign Focal_segmental_glomerulosclerosis
Focal_segmental_glomerulosclerosis_5
not_specified
not_provided		 0.61098 0.69489 HOM Link to ClinVar
681920 666487 Benign not_provided . . HOM Link to ClinVar
681940 666493 Benign not_provided . . HOM Link to ClinVar
681943 667557 Benign not_provided . . HOM Link to ClinVar
683642 667363 Benign not_provided . . HOM Link to ClinVar
681944 667364 Benign not_provided . . HOM Link to ClinVar
681946 667558 Benign not_provided . . HOM Link to ClinVar
261611 254897 Benign Focal_segmental_glomerulosclerosis
not_specified
not_provided		 0.86083 0.90935 HOM Link to ClinVar
681950 667266 Benign not_provided . . HOM Link to ClinVar
261613 254899 Benign Focal_segmental_glomerulosclerosis
not_specified
not_provided		 0.80602 0.84425 HOM Link to ClinVar
261617 254903 Benign Focal_segmental_glomerulosclerosis
Focal_segmental_glomerulosclerosis_5
not_specified		 . 0.69489 HOM Link to ClinVar
681951 667567 Benign not_provided . . HOM Link to ClinVar
681953 667268 Benign not_provided . . HOM Link to ClinVar
312721 337289 Benign Focal_segmental_glomerulosclerosis . 0.54812 HOM Link to ClinVar
769403 702775 Benign not_provided . . HET Link to ClinVar
498670 490094 Benign Cowden_syndrome_6
not_specified		 0.31413 0.32248 HET Link to ClinVar
695299 685395 Benign not_provided . . HET Link to ClinVar
803053 791385 Benign Lethal_congenital_contracture_syndrome_6 . . HET Link to ClinVar
402348 390106 Benign not_specified 0.45473 0.38518 HET Link to ClinVar
402906 390122 Benign not_specified 0.08959 . HET Link to ClinVar
315341 322078 Benign Spastic_paraplegia,_autosomal_dominant . 0.55571 HET Link to ClinVar
315356 340084 Benign Spastic_paraplegia,_autosomal_dominant . 0.07688 HET Link to ClinVar
315375 331344 Benign Spastic_paraplegia,_autosomal_dominant . 0.44788 HET Link to ClinVar
315387 322041 Benign Spastic_paraplegia,_autosomal_dominant . 0.72145 HET Link to ClinVar
315389 322040 Benign Spastic_paraplegia,_autosomal_dominant . 1 HOM Link to ClinVar
315390 331337 Benign Spastic_paraplegia,_autosomal_dominant . 0.96386 HOM Link to ClinVar
315399 338174 Benign Spastic_paraplegia,_autosomal_dominant . 0.11022 HET Link to ClinVar
315405 338164 Benign Spastic_paraplegia,_autosomal_dominant . 0.41014 HET Link to ClinVar
315410 338158 Benign Spastic_paraplegia,_autosomal_dominant . 0.6879 HET Link to ClinVar
315416 338138 Benign Spastic_paraplegia,_autosomal_dominant . . HET Link to ClinVar
129804 135250 Benign Spastic_paraplegia_6
not_specified
Spastic_paraplegia,_autosomal_dominant		 0.73589 0.70407 HET Link to ClinVar
667673 667672 Benign not_provided . . HOM Link to ClinVar
679847 666784 Benign not_provided . . HOM Link to ClinVar
315447 331389 Likely_benign Autism_spectrum_disorder . 0.52177 HOM Link to ClinVar
256818 255127 Benign not_specified 0.34562 0.47364 HET Link to ClinVar
668799 667588 Benign not_provided . . HET Link to ClinVar
668798 667971 Benign not_provided . . HET Link to ClinVar
682657 667591 Benign not_provided . . HOM Link to ClinVar
680281 667689 Benign not_provided . . HET Link to ClinVar
668792 667981 Benign not_provided . . HET Link to ClinVar
256819 255131 Benign not_specified 0.22209 0.1869 HET Link to ClinVar
377904 376374 Benign Seizures
not_specified
not_provided		 0.29825 0.19808 HET Link to ClinVar
255730 255132 Benign Oculocutaneous_albinism
not_specified		 0.26215 0.28275 HET Link to ClinVar
195643 192804 Benign Oculocutaneous_albinism
not_specified		 0.44926 0.5024 HET Link to ClinVar
255722 255140 Benign Oculocutaneous_albinism
not_specified		 0.56384 0.36402 HOM Link to ClinVar
255720 255141 Benign Oculocutaneous_albinism
not_specified		 0.54602 0.32129 HOM Link to ClinVar
193986 191149 Benign Oculocutaneous_albinism
not_specified		 0.77933 0.69329 HOM Link to ClinVar
255716 255145 Benign Oculocutaneous_albinism
not_specified		 0.63672 0.41074 HOM Link to ClinVar
4745 19784 association Skin/hair/eye_pigmentation,_variation_in,_1 . 0.17732 HET Link to ClinVar
4744 19783 Affects Skin/hair/eye_pigmentation,_variation_in,_1 . 0.38858 HOM Link to ClinVar
4743 19782 association Skin/hair/eye_pigmentation,_variation_in,_1 . 0.37959 HOM Link to ClinVar
260492 255152 Benign not_specified 0.45941 0.42252 HET Link to ClinVar
260491 255153 Benign not_specified 0.4755 0.45707 HET Link to ClinVar
315511 322164 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.81039 0.75939 HOM Link to ClinVar
193856 191019 Benign not_specified
Congenital_Stationary_Night_Blindness,_Recessive		 0.54193 0.51917 HOM Link to ClinVar
196343 193504 Benign not_specified
Congenital_Stationary_Night_Blindness,_Recessive		 0.79905 0.79094 HOM Link to ClinVar
315540 331492 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.84465 0.89437 HOM Link to ClinVar
782885 714380 Likely_benign not_provided . . HOM Link to ClinVar
284763 269000 Benign not_specified 0.57954 0.65775 HET Link to ClinVar
461837 464817 Benign not_provided 0.00987 0.02756 HET Link to ClinVar
461892 463991 Benign Epileptic_encephalopathy 0.01627 0.05531 HET Link to ClinVar
315547 322184 Likely_benign Andermann_syndrome . 0.17692 HOM Link to ClinVar
315555 331510 Likely_benign Andermann_syndrome . . HOM Link to ClinVar
315556 322193 Benign Andermann_syndrome . 0.96705 HOM Link to ClinVar
315561 331514 Likely_benign Andermann_syndrome . 0.17712 HOM Link to ClinVar
315565 338420 Likely_benign Andermann_syndrome . 0.21526 HOM Link to ClinVar
315567 340191 Likely_benign Andermann_syndrome . . HOM Link to ClinVar
315581 338444 Likely_benign Andermann_syndrome . 0.17692 HOM Link to ClinVar
315582 340194 Likely_benign Andermann_syndrome . 0.17352 HOM Link to ClinVar
315587 340206 Benign Andermann_syndrome . 0.94569 HOM Link to ClinVar
315595 331534 Benign Andermann_syndrome . 0.78954 HOM Link to ClinVar
669887 666814 Benign not_provided . . HOM Link to ClinVar
670100 667989 Benign not_provided . . HOM Link to ClinVar
670098 667604 Benign not_provided . . HOM Link to ClinVar
159893 169111 Likely_benign not_specified 0.18898 0.20707 HOM Link to ClinVar
669882 667617 Benign not_provided . . HOM Link to ClinVar
670094 667620 Benign not_provided . . HOM Link to ClinVar
159891 169112 Likely_benign not_specified . 0.02177 HOM Link to ClinVar
670566 667626 Benign not_provided . . HOM Link to ClinVar
670093 667990 Benign not_provided . . HOM Link to ClinVar
670092 666818 Benign not_provided . . HOM Link to ClinVar
139121 142824 Benign/Likely_benign Andermann_syndrome
not_specified		 . 0.20727 HOM Link to ClinVar
673452 666820 Benign not_provided . . HOM Link to ClinVar
139120 142823 Benign not_specified 0.23126 0.20687 HOM Link to ClinVar
139119 142822 Benign/Likely_benign Andermann_syndrome
not_specified		 . 0.20687 HOM Link to ClinVar
669867 667633 Benign not_provided . . HOM Link to ClinVar
668755 666821 Benign not_provided . . HOM Link to ClinVar
670089 667698 Benign not_provided . . HOM Link to ClinVar
670088 667700 Benign not_provided . . HOM Link to ClinVar
670564 667645 Benign not_provided . . HOM Link to ClinVar
670086 666825 Benign not_provided . . HOM Link to ClinVar
670085 667995 Benign not_provided . . HOM Link to ClinVar
159898 169119 Benign Andermann_syndrome
not_specified		 0.25109 0.27676 HOM Link to ClinVar
667460 666835 Benign not_provided . . HOM Link to ClinVar
159892 169121 Likely_benign not_specified . 0.48762 HOM Link to ClinVar
315628 340236 Benign/Likely_benign Andermann_syndrome
Dyskeratosis_Congenita,_Recessive
not_provided		 . 0.21066 HOM Link to ClinVar
670084 666843 Benign not_provided . . HOM Link to ClinVar
679868 666846 Benign not_provided . . HOM Link to ClinVar
315631 340242 Benign/Likely_benign Andermann_syndrome
Dyskeratosis_Congenita,_Recessive		 . 0.21006 HOM Link to ClinVar
315633 338504 Benign Dyskeratosis_Congenita,_Recessive 0.1782 0.21006 HOM Link to ClinVar
261036 255154 Benign not_specified
Dyskeratosis_Congenita,_Recessive		 0.36811 0.45288 HOM Link to ClinVar
315653 338520 Likely_benign Atrial_septal_defect
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.45367 HOM Link to ClinVar
315668 338564 Likely_benign Atrial_septal_defect
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.65595 HOM Link to ClinVar
315672 338581 Likely_benign Atrial_septal_defect
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.14537 HET Link to ClinVar
315694 338595 Likely_benign Atrial_septal_defect
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant		 . 0.27855 HET Link to ClinVar
677956 667714 Benign not_provided . . HET Link to ClinVar
257531 255156 Benign not_specified 0.95545 0.95807 HOM Link to ClinVar
257532 255157 Benign not_specified 0.53516 0.49701 HET Link to ClinVar
561829 552838 Benign not_provided . 0.84205 HOM Link to ClinVar
561830 552839 Benign not_provided . 0.80232 HOM Link to ClinVar
41371 49795 Benign/Likely_benign Legius_syndrome
not_specified
not_provided		 0.86375 0.80012 HOM Link to ClinVar
561883 552840 Benign not_provided . . HET Link to ClinVar
561831 552841 Benign not_provided . 0.76478 HOM Link to ClinVar
561479 552842 Benign not_provided . 0.90895 HOM Link to ClinVar
561832 552845 Benign not_provided . 0.79633 HOM Link to ClinVar
561406 552846 Benign not_provided . 0.79932 HOM Link to ClinVar
41452 49890 Benign Legius_syndrome
not_specified
not_provided		 0.22654 0.17792 HET Link to ClinVar
41453 49891 Benign/Likely_benign Legius_syndrome
not_specified
not_provided		 0.8637 0.79932 HOM Link to ClinVar
561407 552847 Benign not_provided 0.97471 0.90955 HOM Link to ClinVar
561480 552848 Benign not_provided . 0.79932 HOM Link to ClinVar
561481 552849 Benign not_provided . 0.79912 HOM Link to ClinVar
561482 552850 Benign not_provided . 0.79932 HOM Link to ClinVar
561483 552851 Benign not_provided . 0.79892 HOM Link to ClinVar
41370 49794 Benign/Likely_benign Legius_syndrome
not_specified
not_provided		 . 0.79952 HOM Link to ClinVar
315753 331665 Likely_benign Legius_syndrome . . HET Link to ClinVar
315762 322368 Likely_benign Legius_syndrome . 0.13758 HET Link to ClinVar
315774 331693 Likely_benign Legius_syndrome . 0.16474 HET Link to ClinVar
315775 340362 Likely_benign Legius_syndrome . 0.95407 HOM Link to ClinVar
315780 322372 Likely_benign Legius_syndrome . 0.76737 HOM Link to ClinVar
315785 338686 Likely_benign Legius_syndrome . 0.15795 HET Link to ClinVar
315789 322393 Likely_benign Legius_syndrome . 0.75379 HOM Link to ClinVar
674658 666878 Benign not_provided . . HET Link to ClinVar
381178 374053 Benign Pulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified		 0.91117 0.96006 HOM Link to ClinVar
674659 667716 Benign not_provided . . HET Link to ClinVar
674660 667720 Benign not_provided . . HET Link to ClinVar
674661 668007 Benign not_provided . . HET Link to ClinVar
672385 667659 Benign not_provided . . HET Link to ClinVar
674638 668011 Benign not_provided . . HET Link to ClinVar
683489 666885 Benign not_provided . . HET Link to ClinVar
683492 668013 Benign not_provided . . HET Link to ClinVar
678093 667668 Benign not_provided . . HET Link to ClinVar
674639 668022 Benign not_provided . . HET Link to ClinVar
674640 666888 Benign not_provided . . HET Link to ClinVar
678114 668026 Benign not_provided . . HET Link to ClinVar
683494 667673 Benign not_provided . . HET Link to ClinVar
674641 666895 Benign not_provided . . HET Link to ClinVar
674642 666897 Benign not_provided . . HET Link to ClinVar
381179 374061 Benign Pulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified		 0.88831 0.84445 HET Link to ClinVar
674662 666909 Benign not_provided . . HOM Link to ClinVar
674663 667723 Benign not_provided . . HOM Link to ClinVar
674664 668037 Benign not_provided . . HOM Link to ClinVar
674665 667729 Benign not_provided . . HET Link to ClinVar
674667 667734 Benign not_provided . . HOM Link to ClinVar
674668 667680 Benign not_provided . . HOM Link to ClinVar
674669 666912 Benign not_provided . . HOM Link to ClinVar
674670 668039 Benign not_provided . . HOM Link to ClinVar
674671 666913 Benign not_provided . . HET Link to ClinVar
381181 374485 Benign Pulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified		 0.39317 0.38019 HET Link to ClinVar
683495 667683 Benign not_provided . . HET Link to ClinVar
381183 373397 Benign Pulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified		 0.91888 0.86821 HOM Link to ClinVar
674672 667743 Benign not_provided . . HET Link to ClinVar
381185 374064 Benign Pulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified		 0.91443 0.90555 HOM Link to ClinVar
683496 666915 Benign not_provided . . HOM Link to ClinVar
674673 667684 Benign not_provided . . HOM Link to ClinVar
402823 390230 Benign not_specified 0.61173 0.45787 HOM Link to ClinVar
133780 137519 Benign not_specified 0.65662 0.62819 HOM Link to ClinVar
257632 255165 Benign not_specified . 0.1907 HET Link to ClinVar
257634 255167 Benign not_specified 0.49157 0.39697 HOM Link to ClinVar
803066 791443 Benign Mosaic_variegated_aneuploidy_syndrome_1 . . HOM Link to ClinVar
94053 99955 Benign Isovaleryl-CoA_dehydrogenase_deficiency
not_specified		 0.68377 0.64796 HET Link to ClinVar
197740 194901 Benign not_specified . 0.97844 HOM Link to ClinVar
258591 255172 Benign not_specified 0.46262 0.46605 HET Link to ClinVar
258590 255173 Benign not_specified 0.67857 0.63219 HET Link to ClinVar
315815 322414 Benign Isovaleryl-CoA_dehydrogenase_deficiency . 0.50739 HET Link to ClinVar
315820 331727 Benign Isovaleryl-CoA_dehydrogenase_deficiency . 0.58686 HET Link to ClinVar
315821 322429 Benign Isovaleryl-CoA_dehydrogenase_deficiency . 0.50679 HET Link to ClinVar
315822 340379 Benign Isovaleryl-CoA_dehydrogenase_deficiency . 0.50699 HET Link to ClinVar
315823 322434 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . HET Link to ClinVar
315828 331736 Benign Isovaleryl-CoA_dehydrogenase_deficiency . 0.61122 HET Link to ClinVar
315834 338723 Benign Isovaleryl-CoA_dehydrogenase_deficiency . 0.50719 HET Link to ClinVar
315837 322437 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . HET Link to ClinVar
672913 666917 Likely_benign not_provided . . HET Link to ClinVar
128769 134218 Benign not_specified 0.10394 0.15336 HET Link to ClinVar
128586 134035 Benign not_specified
Primary_Microcephaly,_Recessive		 0.74565 0.65375 HOM Link to ClinVar
128595 134044 Benign not_specified
Primary_Microcephaly,_Recessive		 0.78784 0.70527 HOM Link to ClinVar
128588 134037 Benign not_specified
Primary_Microcephaly,_Recessive		 0.74554 0.65395 HOM Link to ClinVar
128589 134038 Benign not_specified
Primary_Microcephaly,_Recessive		 0.3924 0.35144 HET Link to ClinVar
128590 134039 Benign not_specified
Primary_Microcephaly,_Recessive		 0.39284 0.35084 HET Link to ClinVar
128593 134042 Benign Primary_autosomal_recessive_microcephaly_4
not_specified
Primary_Microcephaly,_Recessive		 0.39234 0.35124 HET Link to ClinVar
315854 322446 Benign Primary_Microcephaly,_Recessive 0.75891 0.70567 HOM Link to ClinVar
128596 134045 Benign not_specified
Primary_Microcephaly,_Recessive		 0.39348 0.35184 HET Link to ClinVar
128598 134047 Benign not_specified
Primary_Microcephaly,_Recessive		 0.32704 0.20347 HET Link to ClinVar
13128 28167 risk_factor Breast_cancer,_susceptibility_to,_in_BRCA1_and_BRCA2_carriers . 0.14317 HET Link to ClinVar
678273 668072 Benign not_provided . . HET Link to ClinVar
92406 98317 Benign not_specified
not_provided		 0.69279 0.71945 HET Link to ClinVar
678277 667772 Benign not_provided . . HET Link to ClinVar
668059 668088 Benign not_provided . . HET Link to ClinVar
678278 667780 Benign not_provided . . HET Link to ClinVar
678305 668100 Benign not_provided . . HET Link to ClinVar
286594 270831 Benign Limb-girdle_muscular_dystrophy,_type_2A
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive		 . 0.99121 HOM Link to ClinVar
130647 136093 Benign/Likely_benign not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.00946 0.00399 HET Link to ClinVar
316002 338921 Benign Spinocerebellar_Ataxia,_Dominant . 0.53874 HOM Link to ClinVar
262895 255211 Benign not_specified 0.86416 0.84485 HOM Link to ClinVar
262898 255215 Benign not_specified 0.8626 0.84445 HOM Link to ClinVar
255149 255217 Conflicting_interpretations_of_pathogenicity Spherocytosis_type_5
not_specified
Spherocytosis,_Recessive		 0.0174 0.00539 HET Link to ClinVar
165304 176109 Benign not_specified 0.04667 0.01817 HET Link to ClinVar
227082 230573 Benign not_specified 0.02814 . HET Link to ClinVar
670115 666939 Benign not_provided . . HOM Link to ClinVar
194676 191839 Benign Spastic_paraplegia_11,_autosomal_recessive
not_specified
not_provided		 0.00993 0.00439 HET Link to ClinVar
41271 49695 Benign Spastic_paraplegia_11,_autosomal_recessive
not_specified
Spastic_Paraplegia,_Recessive
not_provided		 0.46595 0.47484 HOM Link to ClinVar
316125 340597 Likely_benign Congenital_hypothyroidism . 0.23023 HET Link to ClinVar
316126 332071 Likely_benign Congenital_hypothyroidism . 0.10324 HET Link to ClinVar
316129 322587 Likely_benign Congenital_hypothyroidism . 0.09685 HET Link to ClinVar
316130 340603 Likely_benign Congenital_hypothyroidism . 0.22524 HET Link to ClinVar
260327 255228 Benign/Likely_benign Congenital_hypothyroidism
not_specified		 0.06835 0.07049 HET Link to ClinVar
260324 255230 Benign Congenital_hypothyroidism
Thyroid_dyshormonogenesis_6
not_specified		 0.9977 0.99141 HOM Link to ClinVar
260323 255231 Benign Congenital_hypothyroidism
Thyroid_dyshormonogenesis_6
not_specified		 0.86444 0.72025 HET Link to ClinVar
260322 255232 Benign not_specified 0.04804 0.03135 HET Link to ClinVar
260321 255233 Benign/Likely_benign Congenital_hypothyroidism
not_specified		 0.09818 0.15296 HET Link to ClinVar
260320 255234 Benign/Likely_benign Congenital_hypothyroidism
not_specified		 0.0673 0.0629 HET Link to ClinVar
260319 255235 Benign/Likely_benign Congenital_hypothyroidism
not_specified		 0.06728 0.0631 HET Link to ClinVar
260318 255236 Benign/Likely_benign Congenital_hypothyroidism
not_specified		 . 0.03315 HET Link to ClinVar
260317 255237 Benign/Likely_benign Congenital_hypothyroidism
not_specified		 0.10207 0.16494 HET Link to ClinVar
260315 255239 Benign Congenital_hypothyroidism
Thyroid_dyshormonogenesis_6
not_specified		 . 0.86142 HOM Link to ClinVar
260326 255241 Benign Congenital_hypothyroidism
Thyroid_dyshormonogenesis_6
not_specified		 0.86242 0.75998 HET Link to ClinVar
263302 255242 Benign Thyroglobulin_synthesis_defect
not_specified		 0.96207 0.85843 HOM Link to ClinVar
263303 255243 Benign Thyroglobulin_synthesis_defect
not_specified		 0.84185 0.68291 HET Link to ClinVar
263304 255244 Benign Thyroglobulin_synthesis_defect
not_specified		 . 0.92033 HOM Link to ClinVar
263305 255245 Benign Thyroglobulin_synthesis_defect
not_specified		 0.87646 0.76418 HET Link to ClinVar
263306 255246 Benign Thyroglobulin_synthesis_defect
not_specified		 0.85168 0.68411 HET Link to ClinVar
225957 227779 drug_response hmg_coa_reductase_inhibitors_response_-_Toxicity/ADR
simvastatin_response_-_Toxicity/ADR		 . 0.58746 HOM Link to ClinVar
316200 340648 Benign Arginine:glycine_amidinotransferase_deficiency . 0.71765 HOM Link to ClinVar
316201 339114 Likely_benign Arginine:glycine_amidinotransferase_deficiency . 0.05531 HET Link to ClinVar
316203 322635 Benign Arginine:glycine_amidinotransferase_deficiency . . HOM Link to ClinVar
316204 332157 Benign Arginine:glycine_amidinotransferase_deficiency . 0.61781 HOM Link to ClinVar
316206 340649 Benign Arginine:glycine_amidinotransferase_deficiency . 0.45068 HOM Link to ClinVar
129137 134583 Benign Arginine:glycine_amidinotransferase_deficiency
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.53293 0.71765 HOM Link to ClinVar
680745 667783 Benign not_provided . . HOM Link to ClinVar
682670 667717 Benign not_provided . . HOM Link to ClinVar
129138 134584 Benign Arginine:glycine_amidinotransferase_deficiency
History_of_neurodevelopmental_disorder
not_specified
not_provided		 . 0.61861 HOM Link to ClinVar
684069 668109 Benign not_provided . . HOM Link to ClinVar
680744 668114 Benign not_provided . . HOM Link to ClinVar
684068 668116 Benign not_provided . . HOM Link to ClinVar
316215 340655 Benign Arginine:glycine_amidinotransferase_deficiency 0.55333 0.44389 HOM Link to ClinVar
684065 667726 Benign not_provided . . HOM Link to ClinVar
225951 227780 drug_response hmg_coa_reductase_inhibitors_response_-_Toxicity/ADR
simvastatin_response_-_Toxicity/ADR		 . 0.45088 HOM Link to ClinVar
255874 255252 Benign/Likely_benign Bartter_syndrome,_type_1,_antenatal
not_specified
Antenatal_Bartter_Syndrome		 0.99924 0.9978 HOM Link to ClinVar
316285 339194 Benign Antenatal_Bartter_Syndrome . 0.73522 HOM Link to ClinVar
316290 332223 Benign Antenatal_Bartter_Syndrome . 0.69609 HOM Link to ClinVar
316294 332230 Benign Antenatal_Bartter_Syndrome . 0.82069 HOM Link to ClinVar
316310 332247 Benign Ectopia_lentis
Marfan_syndrome
Acromicric_dysplasia
Weill-Marchesani_syndrome
MASS_syndrome
Stiff_skin_syndrome
Geleophysic_dysplasia
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.78235 HOM Link to ClinVar
316329 340715 Benign Ectopia_lentis
Marfan_syndrome
Acromicric_dysplasia
Weill-Marchesani_syndrome
MASS_syndrome
Stiff_skin_syndrome
Geleophysic_dysplasia
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.65695 HOM Link to ClinVar
316351 322767 Benign Ectopia_lentis
Marfan_syndrome
Acromicric_dysplasia
Weill-Marchesani_syndrome
MASS_syndrome
Stiff_skin_syndrome
Geleophysic_dysplasia
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.91933 HOM Link to ClinVar
316354 339275 Benign Ectopia_lentis
Marfan_syndrome
Acromicric_dysplasia
Weill-Marchesani_syndrome
MASS_syndrome
Stiff_skin_syndrome
Geleophysic_dysplasia
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.60004 HOM Link to ClinVar
677988 668117 Benign not_provided . . HOM Link to ClinVar
680580 667796 Benign not_provided . . HOM Link to ClinVar
672314 666958 Benign not_provided . . HOM Link to ClinVar
680579 666959 Benign not_provided . . HOM Link to ClinVar
137312 141015 Benign not_specified 0.74038 0.65595 HOM Link to ClinVar
680578 668138 Benign not_provided . . HOM Link to ClinVar
680577 667738 Benign not_provided . . HOM Link to ClinVar
680575 667828 Benign not_provided . . HOM Link to ClinVar
680574 668140 Benign not_provided . . HOM Link to ClinVar
680569 667847 Benign not_provided . . HOM Link to ClinVar
228314 230590 Benign Marfan_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified		 1 1 HOM Link to ClinVar
672311 667816 Benign not_provided . . HOM Link to ClinVar
678485 668201 Benign not_provided . . HOM Link to ClinVar
678344 667824 Likely_benign not_provided . . HET Link to ClinVar
678329 666999 Benign not_provided . . HET Link to ClinVar
669844 667825 Likely_benign not_provided . . HET Link to ClinVar
669815 667883 Benign not_provided . . HET Link to ClinVar
678328 667830 Benign not_provided . . HET Link to ClinVar
678333 667002 Likely_benign not_provided . . HET Link to ClinVar
158274 169172 Benign Seckel_syndrome
not_specified
Primary_Microcephaly,_Recessive		 0.39745 0.34465 HET Link to ClinVar
668065 667003 Benign not_provided . . HET Link to ClinVar
136719 140422 Benign/Likely_benign Seckel_syndrome
not_specified
Primary_Microcephaly,_Recessive		 0.05345 0.08686 HET Link to ClinVar
678332 667840 Benign not_provided . . HOM Link to ClinVar
316436 332325 Benign Seckel_syndrome
Primary_Microcephaly,_Recessive		 . 0.19709 HET Link to ClinVar
4807 19846 risk_factor Amyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to 0.08703 0.07588 HET Link to ClinVar
677997 667888 Benign not_provided . . HET Link to ClinVar
677998 667845 Benign not_provided . . HET Link to ClinVar
678000 667849 Benign not_provided . . HET Link to ClinVar
380768 373594 Benign Spastic_paraplegia_51,_autosomal_recessive
not_specified		 0.56529 0.5591 HET Link to ClinVar
128401 133850 Benign Spastic_paraplegia_51,_autosomal_recessive
not_specified		 0.43515 0.4409 HET Link to ClinVar
678001 667010 Benign not_provided . . HET Link to ClinVar
667966 668205 Benign not_provided . . HET Link to ClinVar
678002 667013 Benign not_provided . . HET Link to ClinVar
667967 667851 Benign not_provided . . HET Link to ClinVar
678003 667852 Benign not_provided . . HET Link to ClinVar
680064 667900 Benign not_provided . . HET Link to ClinVar
667968 668218 Benign not_provided . . HET Link to ClinVar
680066 667859 Benign not_provided . . HET Link to ClinVar
678004 668220 Benign not_provided . . HET Link to ClinVar
255650 255284 Benign Griscelli_syndrome_type_1
not_specified		 0.15428 0.14856 HET Link to ClinVar
255639 255294 Benign not_specified 0.9688 0.96246 HOM Link to ClinVar
316486 339375 Likely_benign Amelogenesis_Imperfecta,_Recessive . 0.02696 HOM Link to ClinVar
316503 339378 Benign Amelogenesis_Imperfecta,_Recessive . 0.52716 HOM Link to ClinVar
316537 322920 Benign Amelogenesis_Imperfecta,_Recessive . 0.90435 HOM Link to ClinVar
316543 332461 Benign Amelogenesis_Imperfecta,_Recessive . 0.93171 HOM Link to ClinVar
316544 340846 Benign Amelogenesis_Imperfecta,_Recessive . 0.90455 HOM Link to ClinVar
316563 340888 Benign Amelogenesis_Imperfecta,_Recessive . 0.93211 HOM Link to ClinVar
316582 340892 Uncertain_significance Amelogenesis_Imperfecta,_Recessive . . HET Link to ClinVar
262998 255300 Benign not_specified
Amelogenesis_Imperfecta,_Recessive		 0.57917 0.63978 HET Link to ClinVar
263003 255301 Benign/Likely_benign not_specified
Amelogenesis_Imperfecta,_Recessive		 0.4113 0.32089 HET Link to ClinVar
263002 255302 Benign not_specified
Amelogenesis_Imperfecta,_Recessive		 0.74687 0.7492 HET Link to ClinVar
263001 255303 Benign not_specified
Amelogenesis_Imperfecta,_Recessive		 0.9882 0.95947 HOM Link to ClinVar
263000 255304 Benign/Likely_benign not_specified
Amelogenesis_Imperfecta,_Recessive		 . . HET Link to ClinVar
369092 353321 Benign Griscelli_syndrome . 0.26657 HOM Link to ClinVar
316611 339482 Benign Griscelli_syndrome . 0.26538 HOM Link to ClinVar
316612 339485 Benign Griscelli_syndrome . 0.26518 HOM Link to ClinVar
316613 339493 Benign Griscelli_syndrome . 0.26558 HOM Link to ClinVar
316618 322988 Benign Griscelli_syndrome . 0.26518 HOM Link to ClinVar
316621 332533 Benign Griscelli_syndrome . 0.26538 HOM Link to ClinVar
316622 339506 Benign Griscelli_syndrome . 0.26538 HOM Link to ClinVar
316624 340922 Benign Griscelli_syndrome . 0.26518 HOM Link to ClinVar
316627 340924 Benign Griscelli_syndrome . 0.26518 HOM Link to ClinVar
316628 332547 Benign Griscelli_syndrome . 0.26538 HOM Link to ClinVar
316633 339514 Benign Griscelli_syndrome . 0.26498 HOM Link to ClinVar
316634 340931 Benign Griscelli_syndrome . 0.26518 HOM Link to ClinVar
316636 322989 Benign Griscelli_syndrome . 0.32668 HOM Link to ClinVar
259442 255305 Benign not_specified
Griscelli_syndrome		 0.20073 0.26478 HOM Link to ClinVar
262315 255310 Benign not_specified 0.58383 0.52836 HET Link to ClinVar
788449 714508 Benign not_provided . . HET Link to ClinVar
316660 323001 Benign Hepatic_lipase_deficiency . 0.47804 HOM Link to ClinVar
316666 323007 Benign Hepatic_lipase_deficiency 0.42891 0.30351 HOM Link to ClinVar
316673 323013 Benign Hepatic_lipase_deficiency 0.96875 0.9361 HOM Link to ClinVar
316674 339577 Benign Hepatic_lipase_deficiency 0.96875 0.9359 HOM Link to ClinVar
770787 703274 Benign not_provided . . HET Link to ClinVar
668767 667916 Benign not_provided . . HET Link to ClinVar
684019 667936 Benign not_provided . . HET Link to ClinVar
668768 667868 Benign not_provided . . HET Link to ClinVar
678622 667948 Benign not_provided . . HET Link to ClinVar
684022 667950 Benign not_provided . . HET Link to ClinVar
31888 40548 Benign/Likely_benign Hypertrophic_cardiomyopathy
Familial_hypertrophic_cardiomyopathy_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.67368 0.70567 HET Link to ClinVar
31889 40549 Benign/Likely_benign Hypertrophic_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided		 0.05331 0.02416 HET Link to ClinVar
671948 667955 Benign not_provided . . HET Link to ClinVar
678158 667892 Benign not_provided . . HET Link to ClinVar
674934 667895 Benign not_provided . . HOM Link to ClinVar
675189 668247 Benign not_provided . . HET Link to ClinVar
316715 323041 Benign Spastic_Paraplegia,_Recessive . 0.45407 HET Link to ClinVar
667515 667960 Benign not_provided . . HET Link to ClinVar
670117 667961 Benign not_provided . . HET Link to ClinVar
670116 667963 Benign not_provided . . HET Link to ClinVar
316729 323048 Benign Spastic_Paraplegia,_Recessive . 0.53994 HET Link to ClinVar
684265 667897 Benign not_provided . . HET Link to ClinVar
684264 668255 Benign not_provided . . HET Link to ClinVar
684261 667041 Benign not_provided . . HET Link to ClinVar
129308 134754 Benign Nemaline_myopathy_6
not_specified
Nemaline_Myopathy,_Dominant		 0.40032 0.52177 HET Link to ClinVar
129309 134755 Benign not_specified
Nemaline_Myopathy,_Dominant		 0.40242 0.5016 HET Link to ClinVar
129311 134757 Benign Nemaline_myopathy_6
not_specified
Nemaline_Myopathy,_Dominant		 0.88529 0.90375 HOM Link to ClinVar
129307 134753 Benign not_specified
Nemaline_Myopathy,_Dominant		 0.99609 0.98942 HOM Link to ClinVar
316756 341058 Benign Nemaline_Myopathy,_Dominant . 0.39078 HET Link to ClinVar
316757 323067 Benign Nemaline_Myopathy,_Dominant . 0.88938 HOM Link to ClinVar
316759 323072 Benign Nemaline_Myopathy,_Dominant . 0.34325 HET Link to ClinVar
316764 341062 Benign Nemaline_Myopathy,_Dominant . 0.38319 HET Link to ClinVar
6312 21351 risk_factor Lumbar_disc_disease,_susceptibility_to 0.56822 0.49661 HET Link to ClinVar
316813 341089 Likely_benign Congenital_Stationary_Night_Blindness,_Recessive 0.05022 0.02037 HET Link to ClinVar
316816 323100 Likely_benign Congenital_Stationary_Night_Blindness,_Recessive 0.12886 0.02656 HET Link to ClinVar
40704 49174 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.16374 HET Link to ClinVar
40784 49254 Benign not_specified . 0.27077 HET Link to ClinVar
561383 552857 Benign not_provided . 0.18411 HET Link to ClinVar
561540 552859 Benign not_provided . 0.97684 HOM Link to ClinVar
561818 552861 Benign not_provided . 0.31969 HET Link to ClinVar
561384 552863 Benign not_provided . 0.15855 HET Link to ClinVar
44586 53753 Benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome
Rasopathy
not_specified
not_provided		 . . HET Link to ClinVar
316841 332760 Likely_benign Noonan_syndrome
Cardio-facio-cutaneous_syndrome		 . 0.18311 HET Link to ClinVar
240176 242095 Benign Loeys-Dietz_syndrome_3 . . HET Link to ClinVar
139216 142919 Benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified		 0.37699 0.22364 HET Link to ClinVar
672362 667052 Benign not_provided . . HOM Link to ClinVar
683841 668281 Benign not_provided . . HOM Link to ClinVar
811543 799816 Benign Loeys-Dietz_syndrome_3 . . HOM Link to ClinVar
139217 142920 Benign Loeys-Dietz_syndrome
Loeys-Dietz_syndrome_3
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype		 0.86352 0.83407 HOM Link to ClinVar
672363 667970 Benign not_provided . . HOM Link to ClinVar
672364 667978 Benign not_provided . . HOM Link to ClinVar
683844 667985 Benign not_provided . . HET Link to ClinVar
683847 668288 Benign not_provided . . HET Link to ClinVar
683848 667905 Benign not_provided . . HET Link to ClinVar
673139 668299 Benign not_provided . . HET Link to ClinVar
673140 668313 Benign not_provided . . HET Link to ClinVar
316873 332783 Benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.2516 HET Link to ClinVar
316889 341152 Likely_benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.01058 HET Link to ClinVar
316892 339754 Benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.25339 HET Link to ClinVar
316896 341159 Benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.2528 HET Link to ClinVar
316902 339761 Benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.2528 HET Link to ClinVar
316929 323180 Benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.17053 HET Link to ClinVar
316934 339769 Benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.2518 HET Link to ClinVar
316947 332862 Benign Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection		 . 0.25479 HET Link to ClinVar
803103 791480 Benign Keratosis_palmoplantaris_papulosa . . HET Link to ClinVar
369098 353327 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.48423 HET Link to ClinVar
316970 339790 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.40495 HET Link to ClinVar
668098 667994 Benign not_provided . . HET Link to ClinVar
668097 668008 Benign not_provided . . HOM Link to ClinVar
560340 551393 Benign Ceroid_lipofuscinosis_neuronal_6 . 0.47604 HET Link to ClinVar
768717 778135 Benign not_provided . . HOM Link to ClinVar
445726 438998 Likely_benign not_provided . . HOM Link to ClinVar
791639 714580 Likely_benign not_provided . . HET Link to ClinVar
317033 332971 Benign Tay-Sachs_disease . 0.69329 HOM Link to ClinVar
317035 341250 Benign Tay-Sachs_disease . 0.69289 HOM Link to ClinVar
93191 99098 Benign Tay-Sachs_disease
not_specified
not_provided		 0.96414 0.877 HOM Link to ClinVar
684096 668211 Benign not_provided . . HOM Link to ClinVar
93189 99096 Benign Tay-Sachs_disease
not_specified
not_provided		 0.96433 0.8764 HOM Link to ClinVar
166733 177512 Benign Bardet-Biedl_syndrome_1
not_specified		 0.98328 0.94189 HOM Link to ClinVar
262143 255348 Benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.98308 0.94209 HOM Link to ClinVar
166734 177513 Benign not_specified
not_provided		 0.98746 0.96046 HOM Link to ClinVar
21734 34586 Benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided		 0.57432 0.42891 HET Link to ClinVar
317073 341280 Likely_benign Bardet-Biedl_syndrome . 0.11122 HET Link to ClinVar
95285 101184 Benign not_specified
Cardiovascular_phenotype
not_provided		 . 0.85963 HOM Link to ClinVar
259779 255358 Benign not_specified
not_provided		 0.87581 0.77296 HOM Link to ClinVar
683543 667065 Benign not_provided . . HOM Link to ClinVar
137539 141242 Benign not_specified
Cardiovascular_phenotype		 0.08565 0.05312 HET Link to ClinVar
137537 141240 Benign not_specified
Cardiovascular_phenotype		 0.06131 0.02496 HET Link to ClinVar
683544 668358 Benign not_provided . . HET Link to ClinVar
14361 29400 risk_factor Exfoliation_syndrome,_susceptibility_to 0.18494 0.2476 HOM Link to ClinVar
14362 29401 risk_factor Exfoliation_syndrome,_susceptibility_to . 0.71286 HOM Link to ClinVar
403329 390172 Benign not_specified 0.52259 0.55192 HOM Link to ClinVar
403330 390173 Benign not_specified 0.3599 0.35124 HET Link to ClinVar
317085 341282 Benign Syndromic_Microphthalmia,_Recessive . 0.53275 HOM Link to ClinVar
674954 668018 Benign not_provided . . HOM Link to ClinVar
674953 667943 Benign not_provided . . HOM Link to ClinVar
511079 505375 Likely_benign not_specified . 0.62979 HOM Link to ClinVar
675798 656305 Benign not_provided . . HOM Link to ClinVar
94067 99969 Benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1B
not_specified		 0.36891 0.21366 HET Link to ClinVar
94069 99971 Benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1B
not_specified		 0.43747 0.33826 HET Link to ClinVar
94066 99968 Benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1B
not_specified		 0.43764 0.33866 HET Link to ClinVar
317152 333071 Benign Glutaric_aciduria,_type_2 . 0.97424 HOM Link to ClinVar
681672 667092 Benign not_provided . . HET Link to ClinVar
683823 668379 Benign not_provided . . HOM Link to ClinVar
680103 668384 Benign not_provided . . HET Link to ClinVar
676233 668019 Benign not_provided . . HET Link to ClinVar
810900 799822 Benign Pyogenic_arthritis,_pyoderma_gangrenosum_and_acne . . HOM Link to ClinVar
440205 433868 Benign Pyogenic_arthritis,_pyoderma_gangrenosum_and_acne
not_provided		 . 0.53175 HOM Link to ClinVar
668718 668044 Benign not_provided . . HOM Link to ClinVar
768719 703352 Likely_benign not_provided . . HET Link to ClinVar
226515 230606 Benign not_specified
not_provided		 0.02481 0.01178 HET Link to ClinVar
402789 390183 Likely_benign not_specified 0.03216 0.01837 HET Link to ClinVar
17497 32536 drug_response Lung_cancer_susceptibility_2
Smoking_as_a_quantitative_trait_locus_3
nicotine_response_-_Toxicity/ADR		 0.26767 0.14956 HOM Link to ClinVar
17503 32542 drug_response Lung_cancer_susceptibility_2
Smoking_as_a_quantitative_trait_locus_3
nicotine_response_-_Toxicity/ADR		 0.27297 0.16813 HOM Link to ClinVar
380447 376678 Benign not_specified 0.00328 0.00958 HET Link to ClinVar
92446 98355 Benign Hypertyrosinemia
Tyrosinemia_type_I
not_specified		 0.51406 0.50679 HET Link to ClinVar
255279 255370 Benign not_specified 0.60983 0.63299 HET Link to ClinVar
255280 255371 Benign not_specified . 0.64038 HET Link to ClinVar
255282 255373 Benign not_specified 0.73907 0.77875 HET Link to ClinVar
317217 339979 Likely_benign Hypertyrosinemia . . HET Link to ClinVar
317219 339984 Likely_benign Hypertyrosinemia . 0.11262 HET Link to ClinVar
317221 341367 Likely_benign Hypertyrosinemia . 0.05112 HET Link to ClinVar
317222 323442 Likely_benign Hypertyrosinemia . 0.11262 HET Link to ClinVar
710056 726305 Benign not_provided . . HET Link to ClinVar
773051 778145 Benign not_provided . . HET Link to ClinVar
679398 656313 Benign not_provided . . HOM Link to ClinVar
130839 136283 Benign/Likely_benign Galloway-Mowat_syndrome_1
not_specified		 0.75013 0.78395 HOM Link to ClinVar
382155 374366 Benign not_specified 0.81887 0.86482 HOM Link to ClinVar
678087 667974 Benign not_provided . . HOM Link to ClinVar
678441 668413 Benign not_provided . . HOM Link to ClinVar
379361 374372 Benign not_specified 0.6708 0.72584 HOM Link to ClinVar
382154 374781 Benign not_specified 0.22023 0.13638 HOM Link to ClinVar
384685 374791 Benign not_specified 0.22195 0.13798 HOM Link to ClinVar
383784 374381 Benign not_specified 0.67895 0.74361 HOM Link to ClinVar
683073 668048 Benign not_provided . . HOM Link to ClinVar
383785 374427 Benign not_specified 0.76442 0.80471 HOM Link to ClinVar
384674 376712 Benign not_specified 0.82764 0.84784 HOM Link to ClinVar
678477 667134 Benign not_provided . . HET Link to ClinVar
678541 668424 Benign not_provided . . HET Link to ClinVar
678542 668061 Benign not_provided . . HET Link to ClinVar
384691 376720 Benign not_specified 0.22419 0.15036 HET Link to ClinVar
683074 668431 Benign not_provided . . HOM Link to ClinVar
678088 668066 Benign not_provided . . HOM Link to ClinVar
384676 376731 Benign not_specified 0.30746 0.39497 HET Link to ClinVar
284980 269217 Benign not_specified 0.99096 0.99561 HOM Link to ClinVar
283836 268073 Benign not_specified 0.53481 0.42412 HET Link to ClinVar
317228 341371 Benign Pigmentary_retinal_dystrophy
Newfoundland_rod-cone_dystrophy
Retinitis_Pigmentosa,_Recessive		 . 0.34764 HOM Link to ClinVar
317230 339987 Benign Pigmentary_retinal_dystrophy
Newfoundland_rod-cone_dystrophy
Retinitis_Pigmentosa,_Recessive		 . 0.91594 HOM Link to ClinVar
378479 374448 Benign not_specified 0.33742 0.25619 HOM Link to ClinVar
257484 255379 Benign Fanconi_anemia
not_specified
not_provided		 . 0.25978 HOM Link to ClinVar
257486 255380 Benign not_specified 0.41638 0.44928 HOM Link to ClinVar
257490 255381 Benign not_specified 0.38197 0.33886 HOM Link to ClinVar
257491 255382 Benign not_specified 0.38082 0.33826 HOM Link to ClinVar
257481 255383 Benign Fanconi_anemia
not_specified		 0.41731 0.4393 HOM Link to ClinVar
257482 255384 Benign Fanconi_anemia
not_specified
not_provided		 . 0.26498 HOM Link to ClinVar
439694 433550 Benign not_specified
not_provided		 0.95935 0.98083 HOM Link to ClinVar
257485 255386 Benign/Likely_benign Fanconi_anemia
not_specified
not_provided		 0.09467 0.0595 HOM Link to ClinVar
257487 255387 Benign Fanconi_anemia
not_specified		 0.39438 0.36262 HOM Link to ClinVar
210987 208225 Likely_benign not_specified . . HOM Link to ClinVar
257489 255389 Benign/Likely_benign Fanconi_anemia
not_specified
POLG-Related_Spectrum_Disorders
not_provided		 0.41226 0.41234 HOM Link to ClinVar
317306 340026 Benign/Likely_benign Fanconi_anemia
POLG-Related_Spectrum_Disorders		 . . HOM Link to ClinVar
317321 323507 Benign Fanconi_anemia
POLG-Related_Spectrum_Disorders
not_provided		 . 0.44589 HOM Link to ClinVar
619393 610810 Benign/Likely_benign Progressive_sclerosing_poliodystrophy
not_provided		 . 0.44229 HOM Link to ClinVar
138763 142466 Benign Progressive_sclerosing_poliodystrophy
not_specified		 0.42095 0.41993 HOM Link to ClinVar
138754 142457 Benign/Likely_benign Fanconi_anemia
Progressive_sclerosing_poliodystrophy
not_specified
POLG-Related_Spectrum_Disorders		 0.37471 0.29812 HOM Link to ClinVar
619492 610823 Benign Progressive_sclerosing_poliodystrophy 0.3719 0.29113 HOM Link to ClinVar
619386 610835 Benign Progressive_sclerosing_poliodystrophy . . HOM Link to ClinVar
680714 667155 Benign not_provided . . HOM Link to ClinVar
667971 667992 Benign not_provided . . HOM Link to ClinVar
619385 610855 Benign Progressive_sclerosing_poliodystrophy 0.49909 0.54732 HOM Link to ClinVar
667969 667163 Benign not_provided . . HOM Link to ClinVar
667951 668455 Benign not_provided . . HOM Link to ClinVar
680713 667167 Benign not_provided . . HOM Link to ClinVar
680712 668132 Benign not_provided . . HOM Link to ClinVar
695736 685411 Benign not_provided . . HOM Link to ClinVar
263145 255399 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 . 0.49221 HOM Link to ClinVar
96655 102548 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 0.527 0.45108 HOM Link to ClinVar
96653 102546 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 0.51282 0.4393 HOM Link to ClinVar
96652 102545 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 0.54163 0.45108 HOM Link to ClinVar
96651 102544 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 0.52546 0.4383 HOM Link to ClinVar
129413 134859 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 . 0.79453 HOM Link to ClinVar
683980 668467 Benign not_provided . . HOM Link to ClinVar
263138 255406 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 0.56967 0.51178 HOM Link to ClinVar
96649 102542 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 0.89122 0.86142 HOM Link to ClinVar
129408 134854 Benign Acrocallosal_syndrome,_Schinzel_type
not_specified		 . 0.86022 HOM Link to ClinVar
129972 135418 Benign not_specified 0.08823 0.02077 HET Link to ClinVar
129970 135416 Likely_benign not_specified 0.37966 0.39637 HET Link to ClinVar
129973 135419 Likely_benign not_specified . 0.89577 HOM Link to ClinVar
369104 353333 Benign Jarcho-Levin_syndrome . 0.57528 HET Link to ClinVar
254778 255426 Benign not_specified 0.1553 0.16094 HET Link to ClinVar
92392 98303 Benign Bloom_syndrome
not_specified
not_provided		 0.29559 0.36661 HET Link to ClinVar
92394 98305 Benign/Likely_benign Bloom_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 0.16113 0.15116 HET Link to ClinVar
254780 255428 Benign not_specified 0.15891 0.14477 HET Link to ClinVar
210529 208234 Likely_benign not_specified . 0.70308 HOM Link to ClinVar
92395 98306 Benign/Likely_benign Bloom_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 0.15527 0.13319 HET Link to ClinVar
92396 98307 Benign/Likely_benign Bloom_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 0.15568 0.13279 HET Link to ClinVar
210530 208235 Likely_benign not_specified . . HOM Link to ClinVar
157646 167495 Uncertain_significance Familial_cancer_of_breast . 0.65555 HOM Link to ClinVar
157644 167493 Uncertain_significance Familial_cancer_of_breast . 0.75539 HOM Link to ClinVar
157640 167489 Uncertain_significance Familial_cancer_of_breast 0.5064 0.74301 HOM Link to ClinVar
157635 167484 Uncertain_significance Familial_cancer_of_breast . 0.49521 HOM Link to ClinVar
157632 167481 Uncertain_significance Familial_cancer_of_breast 0.30837 0.47065 HOM Link to ClinVar
157630 167479 Uncertain_significance Familial_cancer_of_breast . 0.42213 HOM Link to ClinVar
157631 167480 Uncertain_significance Familial_cancer_of_breast . 0.48463 HOM Link to ClinVar
261041 255432 Benign Arthrogryposis,_renal_dysfunction,_and_cholestasis_1
Arthrogryposis_with_renal_dysfunction_and_cholestasis_syndrome
not_specified		 . 0.76777 HOM Link to ClinVar
261037 255435 Benign Arthrogryposis_with_renal_dysfunction_and_cholestasis_syndrome
not_specified		 . 0.20807 HOM Link to ClinVar
317436 341554 Benign Arthrogryposis_with_renal_dysfunction_and_cholestasis_syndrome . 0.75659 HOM Link to ClinVar
669402 667173 Benign not_provided . . HOM Link to ClinVar
668075 668143 Benign not_provided . . HOM Link to ClinVar
668076 668478 Benign not_provided . . HOM Link to ClinVar
668077 668028 Benign not_provided . . HOM Link to ClinVar
680217 668480 Benign not_provided . . HOM Link to ClinVar
668078 668158 Benign not_provided . . HOM Link to ClinVar
257706 255443 Benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.84194 0.82648 HOM Link to ClinVar
668079 668166 Benign not_provided . . HOM Link to ClinVar
257708 255445 Benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.83525 0.80911 HOM Link to ClinVar
678926 667191 Benign not_provided . . HOM Link to ClinVar
680220 667193 Benign not_provided . . HOM Link to ClinVar
678928 668498 Benign not_provided . . HOM Link to ClinVar
668080 668173 Benign not_provided . . HOM Link to ClinVar
668081 668180 Benign not_provided . . HOM Link to ClinVar
257709 255446 Benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.22658 0.19349 HOM Link to ClinVar
678930 668187 Benign not_provided . . HOM Link to ClinVar
678932 667200 Benign not_provided . . HOM Link to ClinVar
668082 668508 Benign not_provided . . HOM Link to ClinVar
668083 667204 Benign not_provided . . HOM Link to ClinVar
680221 668063 Benign not_provided . . HOM Link to ClinVar
257713 255450 Benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.29462 0.1865 HET Link to ClinVar
284932 269169 Benign not_specified 0.57752 0.51118 HET Link to ClinVar
199042 196202 Benign not_specified
not_provided		 0.00729 0.00479 HET Link to ClinVar
282215 266452 Conflicting_interpretations_of_pathogenicity Insulin-like_growth_factor_1_resistance_to
not_specified
not_provided		 0.00361 0.002 HET Link to ClinVar
194610 191773 Benign Insulin-like_growth_factor_1_resistance_to
not_specified		 0.39719 0.33566 HOM Link to ClinVar
317500 340150 Benign Insulin-like_growth_factor_1_resistance_to . . HOM Link to ClinVar
317535 323741 Benign Insulin-like_growth_factor_1_resistance_to . . HOM Link to ClinVar
317539 340170 Benign Insulin-like_growth_factor_1_resistance_to . . HOM Link to ClinVar
317546 341605 Benign Insulin-like_growth_factor_1_resistance_to . 0.48323 HOM Link to ClinVar
317570 341626 Benign Insulin-like_growth_factor_1_resistance_to . 0.59045 HOM Link to ClinVar
317637 340252 Benign Insulin-like_growth_factor_1_resistance_to . 0.98942 HOM Link to ClinVar
315163 323871 Benign Weill-Marchesani_syndrome_4 . 0.9998 HOM Link to ClinVar
315178 340296 Likely_benign Weill-Marchesani_syndrome_4 . 0.01478 HET Link to ClinVar
315190 333587 Benign Weill-Marchesani_syndrome_4 . 0.58447 HET Link to ClinVar
315192 323891 Benign Weill-Marchesani_syndrome_4 . 0.58167 HET Link to ClinVar
315193 341712 Benign Weill-Marchesani_syndrome_4 . . HET Link to ClinVar
315196 341714 Benign Weill-Marchesani_syndrome_4 . 0.58806 HET Link to ClinVar
315197 333598 Benign Weill-Marchesani_syndrome_4 . 0.58786 HET Link to ClinVar
315201 340315 Conflicting_interpretations_of_pathogenicity Weill-Marchesani_syndrome_4 . . HET Link to ClinVar
315207 341719 Benign Weill-Marchesani_syndrome_4 . 0.53674 HET Link to ClinVar
315208 340319 Benign Weill-Marchesani_syndrome_4 . 0.57388 HET Link to ClinVar
315210 333602 Benign Weill-Marchesani_syndrome_4 . 0.57768 HET Link to ClinVar
315221 323900 Benign Weill-Marchesani_syndrome_4 . 0.58646 HET Link to ClinVar
315222 341724 Benign Weill-Marchesani_syndrome_4 . 0.58367 HET Link to ClinVar
315224 323905 Benign Weill-Marchesani_syndrome_4 . 0.66094 HET Link to ClinVar
315225 340341 Benign Weill-Marchesani_syndrome_4 . 0.59385 HET Link to ClinVar
315230 323910 Benign Weill-Marchesani_syndrome_4 . 0.58846 HET Link to ClinVar
315234 340349 Benign Weill-Marchesani_syndrome_4 . 0.58467 HET Link to ClinVar
315236 323914 Benign Weill-Marchesani_syndrome_4 . 0.58666 HET Link to ClinVar
315243 340365 Benign Weill-Marchesani_syndrome_4 . 0.59006 HET Link to ClinVar
315245 323916 Benign Weill-Marchesani_syndrome_4 . 0.33846 HET Link to ClinVar
315246 323920 Benign Weill-Marchesani_syndrome_4 0.62819 . HET Link to ClinVar
315248 341746 Benign Weill-Marchesani_syndrome_4 . 0.67951 HET Link to ClinVar
315286 340003 Benign Weill-Marchesani_syndrome_4 . 0.9976 HOM Link to ClinVar
315304 338092 Benign Weill-Marchesani_syndrome_4 0.68255 0.69209 HET Link to ClinVar
315328 340037 Benign Weill-Marchesani_syndrome_4 . . HET Link to ClinVar
587793 579916 Benign History_of_neurodevelopmental_disorder 0.38499 0.3115 HOM Link to ClinVar
587795 579918 Benign History_of_neurodevelopmental_disorder 0.38484 0.3115 HOM Link to ClinVar
587792 580207 Benign History_of_neurodevelopmental_disorder 0.50561 0.45627 HOM Link to ClinVar
587794 580213 Benign History_of_neurodevelopmental_disorder 0.38475 0.3117 HOM Link to ClinVar
587791 579973 Benign History_of_neurodevelopmental_disorder . 0.3115 HOM Link to ClinVar
587799 579971 Benign History_of_neurodevelopmental_disorder 0.34384 0.25479 HOM Link to ClinVar
587782 579925 Benign History_of_neurodevelopmental_disorder 0.38853 0.32748 HOM Link to ClinVar
587790 579990 Benign History_of_neurodevelopmental_disorder 0.38674 0.3143 HOM Link to ClinVar
587785 579999 Benign History_of_neurodevelopmental_disorder 0.38358 0.29852 HOM Link to ClinVar
683870 667937 Benign not_provided . . HET Link to ClinVar
677157 667941 Benign not_provided . . HET Link to ClinVar
256761 255126 Benign not_specified
not_provided		 0.20456 0.21346 HET Link to ClinVar
677159 667669 Benign not_provided . . HET Link to ClinVar
672053 656277 Benign not_provided . . HET Link to ClinVar
439108 432860 Benign not_specified . 0.99701 HOM Link to ClinVar
402921 390135 Benign not_specified . 0.93391 HOM Link to ClinVar
402405 390297 Benign not_specified 0.62184 0.63898 HET Link to ClinVar
257169 255863 Benign not_specified 0.60797 0.58966 HET Link to ClinVar
128631 134080 Benign not_specified 0.60387 0.70088 HET Link to ClinVar
257165 255867 Benign not_specified . 0.15974 HET Link to ClinVar
257162 255869 Benign not_specified . . HET Link to ClinVar
768735 778218 Benign not_provided . . HET Link to ClinVar
96005 101900 Benign Epilepsy,_childhood_absence_6
not_specified
not_provided		 . 0.4399 HOM Link to ClinVar
96008 38427 Benign not_specified
not_provided		 . 0.04673 HET Link to ClinVar
96011 101905 Benign Epilepsy,_childhood_absence_6
not_specified
not_provided		 0.86015 0.91993 HOM Link to ClinVar
585639 577430 Benign not_provided 0.06061 0.03355 HET Link to ClinVar
585642 577432 Benign not_provided 0.64312 0.70967 HET Link to ClinVar
585643 577433 Benign not_provided 0.64323 0.70967 HET Link to ClinVar
585644 577434 Benign not_provided 0.85969 0.91773 HOM Link to ClinVar
585650 577440 Benign not_provided 0.07991 0.03275 HET Link to ClinVar
585651 577441 Benign not_provided 0.09794 0.03175 HET Link to ClinVar
585653 577443 Benign not_provided 0.62243 0.69908 HET Link to ClinVar
518260 508885 Benign Epilepsy,_childhood_absence_6
not_provided		 0.61036 0.69169 HET Link to ClinVar
585654 577444 Benign not_provided 0.09078 0.03275 HET Link to ClinVar
96016 101910 Benign Epilepsy,_childhood_absence_6
not_specified
not_provided		 0.66278 0.70068 HET Link to ClinVar
96018 101912 Benign Epilepsy,_childhood_absence_6
not_specified
not_provided		 0.85827 0.91394 HOM Link to ClinVar
317904 341950 Benign Osteopetrosis . 0.66134 HET Link to ClinVar
317912 333780 Benign Osteopetrosis . 0.91893 HOM Link to ClinVar
317913 340566 Benign Osteopetrosis . 0.46965 HET Link to ClinVar
317926 333791 Benign Osteopetrosis . 0.58706 HET Link to ClinVar
257949 255466 Benign Osteopetrosis
not_specified		 . 0.55591 HET Link to ClinVar
317981 324309 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia . 0.38978 HET Link to ClinVar
516182 505581 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified		 0.96454 0.98443 HOM Link to ClinVar
129260 134706 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified		 0.19852 0.23103 HET Link to ClinVar
129259 134705 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified		 0.25633 0.34744 HET Link to ClinVar
129258 134704 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified		 0.39087 0.50519 HET Link to ClinVar
318223 334063 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified		 0.40035 0.51498 HET Link to ClinVar
318265 334129 Benign Acid-labile_subunit_deficiency . 0.78415 HET Link to ClinVar
318273 324568 Benign Acid-labile_subunit_deficiency 0.69991 0.66873 HET Link to ClinVar
671762 668649 Benign not_provided . . HET Link to ClinVar
671621 668341 Benign not_provided . . HET Link to ClinVar
671622 668167 Benign not_provided . . HET Link to ClinVar
676125 668170 Benign not_provided . . HET Link to ClinVar
676126 668660 Benign not_provided . . HET Link to ClinVar
49958 59120 not_provided Tuberous_sclerosis_syndrome . 0.15336 HET Link to ClinVar
49957 59119 Benign Neoplasm_of_brain
Hereditary_cancer-predisposing_syndrome
Tuberous_sclerosis_syndrome
Lymphangiomyomatosis
Tuberous_sclerosis_2
not_specified
not_provided		 0.08711 0.09205 HET Link to ClinVar
675047 668366 Benign not_provided . . HET Link to ClinVar
49143 58305 Benign not_provided . 0.61062 HET Link to ClinVar
49695 58857 Benign Tuberous_sclerosis_syndrome
not_specified
not_provided		 0.07124 0.03934 HET Link to ClinVar
677145 668375 Benign not_provided . . HET Link to ClinVar
65157 76088 Benign Tuberous_sclerosis_syndrome
not_provided		 . 0.39337 HET Link to ClinVar
65253 76185 Benign Tuberous_sclerosis_syndrome
not_provided		 . 0.24121 HET Link to ClinVar
49431 58593 Benign Tuberous_sclerosis_syndrome
Tuberous_sclerosis_2
not_specified
not_provided		 0.20672 0.25699 HET Link to ClinVar
49895 59057 Benign Hereditary_cancer-predisposing_syndrome
Tuberous_sclerosis_syndrome
Lymphangiomyomatosis
not_specified
not_provided		 0.18828 0.27636 HET Link to ClinVar
49420 58582 Benign Tuberous_sclerosis_syndrome
not_specified
not_provided		 0.11018 0.16773 HET Link to ClinVar
49976 59138 Benign Tuberous_sclerosis_syndrome
Tuberous_sclerosis_2
not_specified
not_provided		 0.12096 0.20088 HET Link to ClinVar
256921 255507 Benign Polycystic_kidney_disease,_adult_type
not_specified		 . 0.27796 HET Link to ClinVar
256917 255511 Benign Polycystic_kidney_disease,_adult_type
not_specified		 . 0.27636 HET Link to ClinVar
256913 255514 Benign Polycystic_kidney_disease,_adult_type
not_specified		 0.19094 0.252 HET Link to ClinVar
257034 255553 Benign Polycystic_kidney_disease,_adult_type
not_specified		 0.1646 0.22065 HET Link to ClinVar
440071 433189 Benign Polycystic_kidney_disease,_adult_type . 0.63259 HOM Link to ClinVar
257004 255582 Benign Polycystic_kidney_disease,_adult_type
not_specified		 . 0.17772 HET Link to ClinVar
256997 255589 Benign Polycystic_kidney_disease,_adult_type
not_specified		 0.18749 0.24261 HET Link to ClinVar
256968 255617 Benign Polycystic_kidney_disease,_adult_type
not_specified		 . 0.22165 HET Link to ClinVar
256944 255640 Benign Polycystic_kidney_disease,_adult_type
not_specified		 0.03738 0.01997 HET Link to ClinVar
256942 255642 Benign Polycystic_kidney_disease,_adult_type
not_specified		 0.11047 0.18291 HET Link to ClinVar
256929 255655 Benign Polycystic_kidney_disease,_adult_type
not_specified		 0.18833 0.22664 HET Link to ClinVar
162672 175790 Benign not_specified 0.91921 0.90096 HET Link to ClinVar
775366 703568 Benign not_provided . . HET Link to ClinVar
318648 341030 Uncertain_significance Myoclonic_epilepsy,_familial_infantile . 0.00699 HET Link to ClinVar
318677 342579 Benign Myoclonic_epilepsy,_familial_infantile . 0.45547 HET Link to ClinVar
318688 342594 Uncertain_significance Myoclonic_epilepsy,_familial_infantile . 0.0004 HET Link to ClinVar
768742 703649 Benign not_provided . . HET Link to ClinVar
319086 341340 Likely_benign Familial_Mediterranean_fever . 0.65096 HET Link to ClinVar
319088 325218 Likely_benign Familial_Mediterranean_fever . 0.64996 HET Link to ClinVar
319092 325223 Likely_benign Familial_Mediterranean_fever . 0.69429 HET Link to ClinVar
319101 334887 Likely_benign Familial_Mediterranean_fever . . HET Link to ClinVar
224065 225792 Likely_benign Familial_Mediterranean_fever . 0.64617 HET Link to ClinVar
224064 225793 Likely_benign Familial_Mediterranean_fever . 0.63978 HET Link to ClinVar
36505 45167 Benign Familial_Mediterranean_fever
not_specified		 . 0.35363 HET Link to ClinVar
439880 433684 Benign not_specified . 0.3113 HET Link to ClinVar
676934 668336 Benign not_provided . . HET Link to ClinVar
667833 667523 Benign not_provided . . HET Link to ClinVar
439879 433683 Benign not_specified . 0.45407 HET Link to ClinVar
439878 433682 Benign not_specified
not_provided		 . 0.45407 HET Link to ClinVar
36503 45165 Benign/Likely_benign Familial_Mediterranean_fever
not_specified		 0.61043 0.66314 HET Link to ClinVar
255615 255706 Benign/Likely_benign Familial_Mediterranean_fever
not_specified		 0.6057 0.65056 HET Link to ClinVar
36500 45162 Benign/Likely_benign Familial_Mediterranean_fever
not_specified		 0.60267 0.63898 HET Link to ClinVar
667831 668504 Benign not_provided . . HET Link to ClinVar
36515 45177 Benign/Likely_benign Familial_Mediterranean_fever
not_specified		 0.62835 0.6907 HET Link to ClinVar
36512 45174 Benign/Likely_benign Familial_Mediterranean_fever
not_specified		 0.2555 0.13598 HET Link to ClinVar
36511 45173 Benign/Likely_benign Familial_Mediterranean_fever
not_specified		 0.49074 0.38638 HET Link to ClinVar
36510 45172 Benign/Likely_benign Familial_Mediterranean_fever
not_specified		 . 0.38658 HET Link to ClinVar
36509 45171 Benign/Likely_benign Familial_Mediterranean_fever
not_specified		 0.43818 0.38938 HET Link to ClinVar
260710 255737 Benign not_specified
not_provided		 . 0.39277 HET Link to ClinVar
260709 255738 Benign not_specified 0.9303 0.96705 HOM Link to ClinVar
96224 102118 Benign Nephronophthisis
not_specified
not_provided		 0.97962 0.99121 HOM Link to ClinVar
319241 341474 Benign Nephronophthisis . 0.15355 HET Link to ClinVar
319394 341579 Benign Kohlschutter's_syndrome . 0.39577 HET Link to ClinVar
319396 325480 Benign Kohlschutter's_syndrome . 0.39796 HET Link to ClinVar
319413 335133 Benign Kohlschutter's_syndrome . 0.38898 HET Link to ClinVar
260705 255780 Benign not_specified 0.70167 0.79253 HET Link to ClinVar
260704 255781 Benign not_specified 0.30098 0.20088 HET Link to ClinVar
260703 255782 Likely_benign not_specified . . HET Link to ClinVar
260708 255783 Benign not_specified . 0.9992 HOM Link to ClinVar
260707 255784 Benign not_specified 0.22892 0.1851 HET Link to ClinVar
260706 255785 Benign not_specified 0.71019 0.73023 HET Link to ClinVar
95935 101831 Benign Congenital_disorder_of_glycosylation_type_1K
not_specified		 . . HET Link to ClinVar
95936 101832 Benign not_specified . 0.17672 HET Link to ClinVar
803210 791630 Benign Idiopathic_generalized_epilepsy . . HOM Link to ClinVar
320841 344189 Benign Gamma-aminobutyric_acid_transaminase_deficiency
not_provided		 0.58413 0.5008 HET Link to ClinVar
320843 336367 Benign Gamma-aminobutyric_acid_transaminase_deficiency
not_provided		 0.57041 0.46945 HET Link to ClinVar
321071 344196 Benign Gamma-aminobutyric_acid_transaminase_deficiency 0.89854 0.82588 HOM Link to ClinVar
321082 326555 Benign Gamma-aminobutyric_acid_transaminase_deficiency
not_provided		 0.38555 0.31749 HET Link to ClinVar
321094 342608 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.3738 HOM Link to ClinVar
321104 336390 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.37121 HOM Link to ClinVar
321107 326569 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.38498 HOM Link to ClinVar
321109 326573 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.60643 HOM Link to ClinVar
321111 342626 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.55032 HOM Link to ClinVar
321126 344235 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.38618 HOM Link to ClinVar
321134 342650 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.90815 HOM Link to ClinVar
321139 344245 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.60683 HOM Link to ClinVar
321145 342652 Benign Gamma-aminobutyric_acid_transaminase_deficiency . 0.60543 HOM Link to ClinVar
495797 487926 Benign not_provided . . HOM Link to ClinVar
92802 98709 Benign Congenital_disorder_of_glycosylation,_type_Ia
not_specified
not_provided		 0.46536 0.38119 HOM Link to ClinVar
321232 326761 Likely_benign Congenital_disorder_of_glycosylation . 0.39617 HOM Link to ClinVar
321248 326771 Benign Congenital_disorder_of_glycosylation . 0.92093 HOM Link to ClinVar
321471 336832 Benign Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation . 0.7506 HOM Link to ClinVar
321501 336853 Benign Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation . 0.42332 HET Link to ClinVar
321514 336862 Benign Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation . 0.41633 HET Link to ClinVar
321515 344757 Benign Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation . 0.41733 HET Link to ClinVar
321519 343130 Benign Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation . 0.36761 HET Link to ClinVar
321520 343131 Benign Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation . 0.7522 HOM Link to ClinVar
321565 343154 Benign Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation . 0.374 HET Link to ClinVar
321583 336920 Benign Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation . 0.26817 HET Link to ClinVar
681804 668744 Benign not_provided . . HET Link to ClinVar
129192 134638 Benign History_of_neurodevelopmental_disorder
Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation
not_specified		 0.26482 0.28115 HET Link to ClinVar
675086 669016 Benign not_provided . . HET Link to ClinVar
674884 668617 Benign not_provided . . HET Link to ClinVar
681643 667736 Benign not_provided . . HET Link to ClinVar
129190 134636 Benign History_of_neurodevelopmental_disorder
Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation
not_specified		 0.2542 0.22584 HET Link to ClinVar
681642 668765 Benign not_provided . . HET Link to ClinVar
683415 667740 Benign not_provided . . HET Link to ClinVar
258093 255451 Benign not_specified . 0.41973 HET Link to ClinVar
402538 390078 Benign Bare_lymphocyte_syndrome_2
not_specified		 0.99586 0.98722 HOM Link to ClinVar
317717 323996 Benign Bare_lymphocyte_syndrome_2
not_specified		 0.68396 0.66314 HOM Link to ClinVar
317718 323999 Benign Bare_lymphocyte_syndrome_2
not_specified		 0.97872 0.92871 HOM Link to ClinVar
317725 324017 Likely_benign Bare_lymphocyte_syndrome_2 0.10088 0.10483 HET Link to ClinVar
317727 341801 Likely_benign Bare_lymphocyte_syndrome_2 . 0.07189 HOM Link to ClinVar
317747 341808 Benign Bare_lymphocyte_syndrome_2 . 0.69169 HOM Link to ClinVar
684091 668090 Benign not_provided . . HOM Link to ClinVar
683058 668536 Benign not_provided . . HOM Link to ClinVar
684077 667277 Benign not_provided . . HOM Link to ClinVar
259686 255455 Benign Xeroderma_pigmentosum
not_specified		 . 0.94649 HOM Link to ClinVar
317845 333761 Uncertain_significance Xeroderma_pigmentosum . 0.001 HET Link to ClinVar
317871 324203 Uncertain_significance Xeroderma_pigmentosum . 0.001 HET Link to ClinVar
672359 667306 Benign not_provided . . HET Link to ClinVar
138342 142045 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_4
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
Lissencephaly,_Recessive		 . 0.41014 HET Link to ClinVar
318129 333972 Uncertain_significance Lissencephaly,_Recessive . . HET Link to ClinVar
138334 142037 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_4
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
Lissencephaly,_Recessive		 0.24569 0.20387 HET Link to ClinVar
672357 667315 Benign not_provided . . HOM Link to ClinVar
680674 667318 Benign not_provided . . HOM Link to ClinVar
670997 668285 Benign not_provided . . HOM Link to ClinVar
138330 142033 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype		 0.29751 0.25359 HOM Link to ClinVar
678515 668287 Benign not_provided . . HOM Link to ClinVar
672356 668296 Benign Aortic_aneurysm,_familial_thoracic_4
not_provided		 . . HET Link to ClinVar
672355 668301 Benign not_provided . . HOM Link to ClinVar
138327 142030 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype		 0.4437 0.54812 HOM Link to ClinVar
138371 142074 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified		 0.41639 0.53434 HOM Link to ClinVar
680657 668315 Benign not_provided . . HET Link to ClinVar
680653 668329 Benign not_provided . . HET Link to ClinVar
680648 667347 Benign not_provided . . HET Link to ClinVar
126852 132366 Uncertain_significance Familial_cancer_of_breast . 0.5611 HOM Link to ClinVar
126860 132374 Uncertain_significance Familial_cancer_of_breast . 0.80371 HOM Link to ClinVar
433369 426779 Benign Pseudoxanthoma_elasticum 0.07013 0.06629 HET Link to ClinVar
433280 426928 Benign Pseudoxanthoma_elasticum 0.13953 0.15156 HET Link to ClinVar
433247 426987 Benign Pseudoxanthoma_elasticum 0.41518 0.33267 HET Link to ClinVar
433246 426988 Benign Pseudoxanthoma_elasticum 0.41515 0.33267 HET Link to ClinVar
433244 426990 Benign Pseudoxanthoma_elasticum 0.42612 0.33946 HET Link to ClinVar
433383 427023 Benign Pseudoxanthoma_elasticum . 0.73143 HET Link to ClinVar
433382 427024 Benign Pseudoxanthoma_elasticum . 0.78794 HET Link to ClinVar
433228 427028 Benign Pseudoxanthoma_elasticum 0.30672 0.23223 HET Link to ClinVar
143117 152835 Likely_benign not_provided 0.3384 0.28275 HET Link to ClinVar
143120 152838 Conflicting_interpretations_of_pathogenicity Pseudoxanthoma_elasticum
not_provided		 0.05976 . HET Link to ClinVar
669474 668335 Benign not_provided . . HET Link to ClinVar
683572 668160 Benign not_provided . . HOM Link to ClinVar
683574 668645 Benign not_provided . . HET Link to ClinVar
683575 668337 Benign not_provided . . HOM Link to ClinVar
683576 667359 Benign not_provided . . HET Link to ClinVar
678528 656341 Benign not_provided . . HET Link to ClinVar
669795 668165 Benign not_provided . . HOM Link to ClinVar
683582 668340 Benign not_provided . . HOM Link to ClinVar
402512 390286 Benign not_specified 0.86814 0.82808 HOM Link to ClinVar
318299 342241 Benign not_specified
Uromodulin-associated_kidney_disease		 0.02684 0.04014 HET Link to ClinVar
402724 390162 Benign not_specified . 0.44449 HET Link to ClinVar
44241 53408 Benign not_specified . 0.5026 HET Link to ClinVar
44237 53404 Benign not_specified 0.23428 0.20288 HET Link to ClinVar
47954 57118 Benign not_specified 0.06236 0.10304 HET Link to ClinVar
682739 668216 Benign not_provided . . HET Link to ClinVar
47952 57116 Benign not_specified 0.63197 0.57668 HOM Link to ClinVar
318343 334228 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1		 . 0.19689 HET Link to ClinVar
318344 324670 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1		 0.2378 0.19689 HET Link to ClinVar
165172 176148 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
not_specified
not_provided		 0.30228 0.23902 HOM Link to ClinVar
165173 176006 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
not_specified
not_provided		 0.30177 0.23922 HOM Link to ClinVar
165174 176149 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
not_specified
not_provided		 0.06086 0.04453 HET Link to ClinVar
165176 176008 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
not_specified		 0.81062 0.78375 HET Link to ClinVar
318367 334266 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1		 . 0.33946 HET Link to ClinVar
318371 334268 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1		 . 0.33946 HET Link to ClinVar
318373 340920 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1		 . 0.33886 HET Link to ClinVar
165167 176011 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Bronchiectasis_with_or_without_elevated_sweat_chloride_1
Liddle_syndrome_1
not_specified		 0.63547 0.78854 HOM Link to ClinVar
165170 176014 Benign Pseudohypoaldosteronism_type_1_autosomal_recessive
Bronchiectasis_with_or_without_elevated_sweat_chloride_1
Liddle_syndrome_1
not_specified		 . 0.04133 HET Link to ClinVar
318516 340995 Benign Combined_oxidative_phosphorylation_deficiency . 0.78694 HOM Link to ClinVar
318518 342493 Benign Combined_oxidative_phosphorylation_deficiency . 0.78694 HOM Link to ClinVar
318532 324778 Benign Combined_oxidative_phosphorylation_deficiency . . HOM Link to ClinVar
318536 334395 Benign Combined_oxidative_phosphorylation_deficiency . . HOM Link to ClinVar
318539 260348 Benign Combined_oxidative_phosphorylation_deficiency 0.83036 0.80212 HOM Link to ClinVar
680558 667432 Benign not_provided . . HOM Link to ClinVar
671646 667437 Benign not_provided . . HET Link to ClinVar
137186 140889 Benign not_specified
Combined_oxidative_phosphorylation_deficiency
not_provided		 0.83063 0.80192 HOM Link to ClinVar
671552 668245 Benign not_provided . . HOM Link to ClinVar
137185 140888 Benign not_specified
Combined_oxidative_phosphorylation_deficiency
not_provided		 0.75567 0.67312 HOM Link to ClinVar
680557 668733 Benign not_provided . . HOM Link to ClinVar
137183 140886 Benign not_specified
Combined_oxidative_phosphorylation_deficiency
not_provided		 0.83081 0.80272 HOM Link to ClinVar
676118 668436 Benign not_provided . . HOM Link to ClinVar
137191 140894 Benign not_specified
Combined_oxidative_phosphorylation_deficiency
not_provided		 0.75606 0.67472 HOM Link to ClinVar
126714 132224 Likely_benign Familial_cancer_of_breast 0.99747 0.99681 HOM Link to ClinVar
679913 668458 Benign not_provided . . HET Link to ClinVar
668788 668267 Benign not_provided . . HET Link to ClinVar
668786 668740 Benign not_provided . . HET Link to ClinVar
318738 341082 Benign Combined_oxidative_phosphorylation_deficiency . 0.26158 HET Link to ClinVar
667506 668291 Benign not_provided . . HET Link to ClinVar
318747 341086 Benign Combined_oxidative_phosphorylation_deficiency 0.34544 0.26158 HET Link to ClinVar
318760 342632 Benign Combined_oxidative_phosphorylation_deficiency . 0.34924 HET Link to ClinVar
671198 668464 Benign not_provided . . HET Link to ClinVar
678078 668298 Benign not_provided . . HET Link to ClinVar
678079 667497 Benign not_provided . . HET Link to ClinVar
678080 668302 Benign not_provided . . HET Link to ClinVar
678081 667509 Benign not_provided . . HET Link to ClinVar
96545 102439 Benign Brody_myopathy
not_specified
not_provided		 0.34819 0.33886 HET Link to ClinVar
678082 668484 Benign not_provided . . HET Link to ClinVar
678083 668489 Benign not_provided . . HET Link to ClinVar
678094 668502 Benign not_provided . . HET Link to ClinVar
678201 667510 Benign not_provided . . HET Link to ClinVar
96539 102433 Benign Brody_myopathy
not_specified
not_provided		 0.70601 0.81869 HET Link to ClinVar
318803 341124 Benign Common_variable_immunodeficiency_3
not_specified
Common_Variable_Immune_Deficiency,_Recessive		 0.72932 0.83027 HET Link to ClinVar
318805 324967 Benign Common_Variable_Immune_Deficiency,_Recessive . 0.1871 HET Link to ClinVar
318821 324989 Uncertain_significance Common_Variable_Immune_Deficiency,_Recessive . . HET Link to ClinVar
803248 791581 Benign Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_2 . . HOM Link to ClinVar
167544 177989 Benign not_specified 0.99796 0.99181 HOM Link to ClinVar
769898 703631 Benign not_provided . . HOM Link to ClinVar
259450 255674 Benign not_specified . . HOM Link to ClinVar
512692 505610 Benign not_specified 0.88279 0.89517 HOM Link to ClinVar
260018 255677 Benign not_specified 0.15443 0.08327 HET Link to ClinVar
195889 193050 Benign not_specified 0.99389 0.98123 HOM Link to ClinVar
160034 169197 Benign/Likely_benign Floating-Harbor_syndrome
not_specified		 0.01346 0.00659 HET Link to ClinVar
318927 341225 Benign Glycogen_phosphorylase_kinase_deficiency . 0.98143 HOM Link to ClinVar
255782 255685 Benign not_specified 0.98945 0.96745 HOM Link to ClinVar
318968 341249 Likely_benign Dilated_Cardiomyopathy,_Dominant . 0.58866 HOM Link to ClinVar
261873 255691 Benign not_specified . 0.49341 HOM Link to ClinVar
261870 255696 Benign not_specified 0.60329 0.49281 HOM Link to ClinVar
225975 227784 drug_response warfarin_response_-_Dosage
not_provided		 . 0.60963 HET Link to ClinVar
226026 227785 drug_response not_specified
warfarin_response_-_Dosage		 . 0.41633 HET Link to ClinVar
37344 38302 drug_response Warfarin_response
not_specified
acenocoumarol_response_-_Dosage
phenprocoumon_response_-_Dosage
warfarin_response_-_Dosage
Vitamin_K-Dependent_Clotting_Factors		 . 0.35583 HET Link to ClinVar
225960 227786 drug_response warfarin_response_-_Dosage
not_provided		 . 0.09365 HET Link to ClinVar
2211 17250 Likely_benign,_other Warfarin_response
not_specified
not_provided		 . 0.35563 HET Link to ClinVar
226015 227782 drug_response warfarin_response_-_Dosage . 0.52556 HET Link to ClinVar
128521 133970 Benign not_specified 0.38031 0.35923 HET Link to ClinVar
318979 334778 Benign Amyotrophic_Lateral_Sclerosis,_Dominant 0.9846 0.9391 HOM Link to ClinVar
259594 255698 Benign Amyotrophic_lateral_sclerosis_type_6
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant		 . 0.27895 HET Link to ClinVar
319004 325136 Benign Amyotrophic_Lateral_Sclerosis,_Dominant 0.42268 0.28175 HET Link to ClinVar
319017 334828 Benign Amyotrophic_Lateral_Sclerosis,_Dominant 0.99944 0.99101 HOM Link to ClinVar
703789 695697 Benign not_provided . . HET Link to ClinVar
260386 255745 Benign Meier-Gorlin_syndrome
not_specified
Parkinson_Disease,_Dominant		 0.42638 0.19409 HOM Link to ClinVar
257173 255752 Likely_benign not_specified . . HET Link to ClinVar
319385 335120 Benign Glycogen_phosphorylase_kinase_deficiency . 0.99641 HOM Link to ClinVar
260529 255766 Benign not_specified 0.21653 0.20487 HET Link to ClinVar
260538 255777 Benign not_specified 0.47961 0.57867 HOM Link to ClinVar
319429 341616 Benign Blau_syndrome
Crohn_disease
not_specified		 . 0.24661 HOM Link to ClinVar
319450 341634 Benign Blau_syndrome
Crohn_disease
not_specified		 0.33022 0.21605 HOM Link to ClinVar
97869 103761 Benign/Likely_benign Inflammatory_bowel_disease_1
Psoriatic_arthritis,_susceptibility_to
Blau_syndrome
Yao_syndrome
Crohn_disease
not_specified		 0.06112 0.03335 HET Link to ClinVar
319482 325520 Benign Blau_syndrome
Crohn_disease		 . 0.35823 HOM Link to ClinVar
319492 335201 Benign Blau_syndrome
Crohn_disease		 . 0.35224 HET Link to ClinVar
319586 335255 Benign Townes-Brocks_syndrome_1 . . HET Link to ClinVar
258871 255786 Benign Townes-Brocks_syndrome_1
not_specified		 0.99648 0.98682 HOM Link to ClinVar
667579 668339 Benign not_provided . . HET Link to ClinVar
258866 255790 Benign Townes-Brocks_syndrome_1
not_specified		 . 0.53874 HET Link to ClinVar
319624 343259 Likely_benign Nephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome		 . 0.47664 HET Link to ClinVar
319634 341775 Likely_benign Nephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome		 . 0.47704 HET Link to ClinVar
319645 335300 Likely_benign Nephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome		 . 0.47704 HET Link to ClinVar
671910 668775 Benign not_provided . . HET Link to ClinVar
319648 325647 Uncertain_significance Nephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome		 . . HET Link to ClinVar
95692 101589 Benign/Likely_benign Nephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided		 0.22552 0.13698 HOM Link to ClinVar
126276 131808 Benign not_specified
not_provided		 0.3575 0.48463 HOM Link to ClinVar
217824 214481 risk_factor OBESITY_(BMIQ14),_SUSCEPTIBILITY_TO . 0.22863 HET Link to ClinVar
319750 341847 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders 0.30128 0.20008 HET Link to ClinVar
319756 335387 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders 0.83783 0.79992 HET Link to ClinVar
319761 343361 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders . 0.32488 HET Link to ClinVar
319766 325751 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders 0.48409 0.48762 HET Link to ClinVar
319768 335392 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders 0.39504 0.30391 HET Link to ClinVar
319769 335396 Likely_benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders . 0.03714 HET Link to ClinVar
319776 343362 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders . 0.29892 HET Link to ClinVar
319789 325781 Likely_benign Orthostatic_intolerance . 0.753 HET Link to ClinVar
319803 341872 Likely_benign Orthostatic_intolerance . 0.23343 HET Link to ClinVar
319805 335414 Likely_benign Orthostatic_intolerance 0.30374 0.22943 HET Link to ClinVar
319820 335430 Uncertain_significance Orthostatic_intolerance . . HET Link to ClinVar
319821 335436 Likely_benign Orthostatic_intolerance . . HET Link to ClinVar
319842 341888 Likely_benign Orthostatic_intolerance . 0.89357 HOM Link to ClinVar
585942 577548 Benign History_of_neurodevelopmental_disorder
not_provided		 0.43836 0.4974 HET Link to ClinVar
261981 255825 Benign Bardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
Bardet-Biedl_syndrome_2
not_specified
not_provided		 0.20924 0.26358 HET Link to ClinVar
285261 269498 Benign Bardet-Biedl_syndrome_2
not_specified
not_provided		 0.99377 0.99641 HOM Link to ClinVar
369114 353343 Benign Bardet-Biedl_syndrome . 0.99701 HOM Link to ClinVar
504886 497694 Benign Familial_hypokalemia-hypomagnesemia
not_specified		 0.97557 0.99062 HOM Link to ClinVar
255880 255835 Benign Familial_hypokalemia-hypomagnesemia
not_specified		 0.45897 0.57069 HET Link to ClinVar
319917 341943 Benign/Likely_benign Familial_hypokalemia-hypomagnesemia 0.03057 0.05232 HET Link to ClinVar
255891 255845 Benign Familial_hypokalemia-hypomagnesemia
not_specified		 0.28717 0.33966 HET Link to ClinVar
319924 325868 Benign Familial_hypokalemia-hypomagnesemia . 0.59125 HET Link to ClinVar
319930 341960 Benign Familial_hypokalemia-hypomagnesemia . 0.54094 HET Link to ClinVar
319938 343483 Benign Familial_hypokalemia-hypomagnesemia . 0.59125 HET Link to ClinVar
319942 325884 Benign Familial_hypokalemia-hypomagnesemia . 0.5613 HET Link to ClinVar
319951 325898 Benign Familial_hypokalemia-hypomagnesemia . 0.53994 HET Link to ClinVar
319957 325902 Benign Familial_hypokalemia-hypomagnesemia . 0.5619 HET Link to ClinVar
319984 343503 Benign Hyperalphalipoproteinemia_1 0.05355 0.05471 HET Link to ClinVar
17525 32564 Benign Hyperalphalipoproteinemia_1
High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_10		 0.61648 0.53395 HET Link to ClinVar
320000 325942 Benign Hyperalphalipoproteinemia_1 . 0.15535 HET Link to ClinVar
369116 353345 Benign Hyperalphalipoproteinemia_1 . 0.76617 HOM Link to ClinVar
683585 668794 Benign not_provided . . HOM Link to ClinVar
683587 668355 Benign not_provided . . HOM Link to ClinVar
320014 325945 Likely_benign Coenzyme_Q10_deficiency,_primary . 0.11641 HET Link to ClinVar
320015 325947 Benign Coenzyme_Q10_deficiency,_primary . 0.99261 HOM Link to ClinVar
679870 667748 Benign not_provided . . HOM Link to ClinVar
683313 669039 Benign not_provided . . HET Link to ClinVar
137493 141196 Benign/Likely_benign not_specified
not_provided		 . 0.72085 HOM Link to ClinVar
158640 169286 Benign not_specified
not_provided		 0.19978 0.11302 HET Link to ClinVar
158641 169287 Benign not_specified
not_provided		 0.75658 0.81669 HOM Link to ClinVar
158615 169291 Benign not_specified . 0.29094 HET Link to ClinVar
683315 668636 Benign not_provided . . HET Link to ClinVar
681781 668790 Benign not_provided . . HET Link to ClinVar
259865 255850 Benign not_specified 0.75644 0.84784 HET Link to ClinVar
712324 726711 Benign not_provided . . HET Link to ClinVar
320027 335611 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.08566 HOM Link to ClinVar
320028 342033 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.10963 HOM Link to ClinVar
320046 342038 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.08946 HOM Link to ClinVar
320053 335659 Likely_benign Retinitis_Pigmentosa,_Recessive 0.072 0.08546 HOM Link to ClinVar
320059 326000 Benign/Likely_benign Retinitis_pigmentosa_45
Retinitis_Pigmentosa,_Recessive		 0.31064 0.37021 HOM Link to ClinVar
194492 191655 Benign/Likely_benign Retinitis_pigmentosa_45
not_specified
Retinitis_Pigmentosa,_Recessive		 0.54304 0.40076 HET Link to ClinVar
320109 335733 Benign/Likely_benign Retinitis_pigmentosa_45
Retinitis_Pigmentosa,_Recessive		 0.43042 0.3141 HET Link to ClinVar
320110 342070 Benign Retinitis_pigmentosa_45
Retinitis_Pigmentosa,_Recessive		 . 0.752 HOM Link to ClinVar
402549 390165 Benign not_specified . . HET Link to ClinVar
320206 343681 Benign EEM_syndrome . . . Link to ClinVar
320212 343691 Benign EEM_syndrome . 0.17093 HET Link to ClinVar
677162 668527 Benign not_provided . . HET Link to ClinVar
320227 342177 Benign EEM_syndrome . 0.13978 HET Link to ClinVar
320229 326126 Benign EEM_syndrome
not_provided		 0.594 0.60783 HET Link to ClinVar
320230 343710 Benign EEM_syndrome
not_provided		 0.59396 0.60783 HET Link to ClinVar
320243 342183 Benign EEM_syndrome
not_provided		 0.58811 0.59744 HET Link to ClinVar
320250 342187 Benign EEM_syndrome
not_provided		 0.57856 0.57448 HET Link to ClinVar
320258 342193 Benign EEM_syndrome . 0.8109 HET Link to ClinVar
136692 140395 Benign Hereditary_cancer-predisposing_syndrome
Hereditary_diffuse_gastric_cancer
not_specified
not_provided		 0.81114 0.76338 HET Link to ClinVar
676887 668405 Benign not_provided . . HET Link to ClinVar
142770 152484 Benign Hereditary_cancer-predisposing_syndrome
Hereditary_diffuse_gastric_cancer
not_specified
not_provided		 0.65481 0.71865 HOM Link to ClinVar
320281 326168 Benign Hereditary_diffuse_gastric_cancer . 0.10304 HET Link to ClinVar
369122 353351 Benign Hereditary_diffuse_gastric_cancer . 0.99481 HOM Link to ClinVar
225971 227789 drug_response anthracyclines_and_related_substances_response_-_Toxicity/ADR . 0.34225 HET Link to ClinVar
676109 668529 Benign not_provided . . HET Link to ClinVar
96220 102114 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 . 0.25759 HET Link to ClinVar
16809 31848 drug_response Lung_cancer
Benzene_toxicity,_susceptibility_to
Leukemia,_post-chemotherapy,_susceptibility_to
Breast_cancer,_post-chemotherapy_poor_survival_in
Alkylating_Agents,_anthracyclines_and_related_substances,_fluorouracil,_and_Platinum_compounds_response_-_Efficacy		 0.24516 0.28894 HET Link to ClinVar
320325 335871 Benign Charcot-Marie-Tooth_disease,_type_2
Charcot-Marie-Tooth_disease,_type_2N
not_provided		 0.8241 0.88119 HOM Link to ClinVar
676230 667573 Benign not_provided . . HET Link to ClinVar
803270 791639 Benign Congenital_disorder_of_glycosylation_type_2J . . HOM Link to ClinVar
95699 101596 Benign Congenital_disorder_of_glycosylation
not_specified		 0.4511 0.47025 HOM Link to ClinVar
380059 377764 Benign not_specified 0.06352 0.04633 HET Link to ClinVar
95697 101594 Benign Congenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_2J
not_specified		 0.94743 0.95947 HOM Link to ClinVar
402954 390205 Benign not_specified . 0.999 HOM Link to ClinVar
402955 390115 Benign Ciliary_dyskinesia,_primary,_5
not_specified		 0.61642 0.45387 HET Link to ClinVar
808074 797374 Uncertain_significance not_provided . . HET Link to ClinVar
402956 390310 Benign not_specified 0.40871 0.46725 HET Link to ClinVar
402957 390116 Benign not_specified 0.38474 . HET Link to ClinVar
402958 390175 Benign not_specified 0.04117 0.01857 HET Link to ClinVar
402959 390176 Benign not_specified 0.37299 0.40535 HET Link to ClinVar
320449 336023 Benign Miller_syndrome . 0.54453 HOM Link to ClinVar
320453 326286 Benign Miller_syndrome . 0.54373 HOM Link to ClinVar
320459 336034 Benign Miller_syndrome . 0.54493 HOM Link to ClinVar
320461 336037 Benign Miller_syndrome . 0.54393 HOM Link to ClinVar
768789 703799 Benign not_provided . . HOM Link to ClinVar
768791 703805 Benign not_provided . . HOM Link to ClinVar
320466 326302 Benign Spastic_paraplegia_35 . 0.2504 HOM Link to ClinVar
320477 342319 Benign Spastic_paraplegia_35 . 0.23782 HET Link to ClinVar
129032 134478 Benign/Likely_benign Spastic_paraplegia_35
not_specified		 0.11951 0.11601 HET Link to ClinVar
129031 134477 Benign Spastic_paraplegia_35
not_specified		 0.7732 0.72524 HOM Link to ClinVar
680134 668415 Benign not_provided . . HET Link to ClinVar
129028 134474 Benign Spastic_paraplegia_35
not_specified		 0.3587 0.249 HET Link to ClinVar
369127 353356 Benign Spastic_paraplegia_35
not_provided		 . 0.6851 HOM Link to ClinVar
320505 336068 Benign Macular_corneal_dystrophy_Type_I . 0.65815 HOM Link to ClinVar
320507 343959 Benign Macular_corneal_dystrophy_Type_I . 0.79273 HOM Link to ClinVar
320519 342351 Benign Macular_corneal_dystrophy_Type_I . 0.38439 HET Link to ClinVar
320520 336084 Benign Macular_corneal_dystrophy_Type_I . 0.51438 HET Link to ClinVar
320527 326345 Benign Macular_corneal_dystrophy_Type_I . 0.54074 HET Link to ClinVar
320531 343972 Benign Macular_corneal_dystrophy_Type_I . 0.46586 HET Link to ClinVar
320539 343978 Benign Macular_corneal_dystrophy_Type_I . . HET Link to ClinVar
320552 342363 Benign Macular_corneal_dystrophy_Type_I . 0.20787 HET Link to ClinVar
320557 336122 Benign Macular_corneal_dystrophy_Type_I . 0.52177 HET Link to ClinVar
320558 326366 Benign Macular_corneal_dystrophy_Type_I . 0.97664 HOM Link to ClinVar
320559 342366 Benign Macular_corneal_dystrophy_Type_I . 0.53195 HET Link to ClinVar
320561 326370 Benign Macular_corneal_dystrophy_Type_I . . HET Link to ClinVar
320567 326376 Benign Macular_corneal_dystrophy_Type_I . 0.50799 HET Link to ClinVar
320596 326392 Benign Macular_corneal_dystrophy_Type_I . 0.55671 HOM Link to ClinVar
320611 342409 Benign/Likely_benign Macular_corneal_dystrophy_Type_I . 0.01757 HET Link to ClinVar
130591 136037 Benign not_specified 0.17402 0.27017 HET Link to ClinVar
669396 668419 Benign not_provided . . HET Link to ClinVar
130587 136033 Benign Joubert_syndrome_20
not_specified		 0.28133 0.28914 HET Link to ClinVar
803274 791643 Benign Microcornea,_myopic_chorioretinal_atrophy,_and_telecanthus . . HOM Link to ClinVar
670330 667608 Benign not_provided . . HET Link to ClinVar
260738 255878 Benign not_specified . 0.17592 HET Link to ClinVar
670331 668900 Benign not_provided . . HET Link to ClinVar
670333 668429 Benign not_provided . . HET Link to ClinVar
260739 255879 Benign not_specified
not_provided		 0.74821 0.78914 HOM Link to ClinVar
586944 577569 Benign not_provided 0.45947 0.47224 HET Link to ClinVar
260740 255880 Benign Epileptic_encephalopathy,_early_infantile,_1
not_specified
not_provided		 . 0.26338 HET Link to ClinVar
668842 667618 Likely_benign not_provided . . HET Link to ClinVar
540240 530280 Benign not_provided . 0.50399 HET Link to ClinVar
670869 668476 Benign not_provided . . HOM Link to ClinVar
682664 668481 Benign not_provided . . HOM Link to ClinVar
673442 668624 Benign not_provided . . HOM Link to ClinVar
680312 668955 Benign not_provided . . HOM Link to ClinVar
680313 668634 Benign not_provided . . HET Link to ClinVar
682665 668635 Benign not_provided . . HET Link to ClinVar
682666 668483 Benign not_provided . . HOM Link to ClinVar
680740 668637 Benign not_provided . . HET Link to ClinVar
637432 625349 Benign not_specified
not_provided		 . . HET Link to ClinVar
669768 667627 Benign not_provided . . HET Link to ClinVar
681702 668490 Benign not_provided . . HET Link to ClinVar
682667 668494 Benign not_provided . . HET Link to ClinVar
680741 668639 Benign not_provided . . HET Link to ClinVar
129131 134577 Benign Giant_axonal_neuropathy_1
not_specified		 0.19544 0.15116 HET Link to ClinVar
681715 668501 Benign not_provided . . HET Link to ClinVar
320664 336177 Likely_benign Giant_axonal_neuropathy_1 . 0.01298 HET Link to ClinVar
320668 344092 Benign Giant_axonal_neuropathy_1 . 0.6276 HET Link to ClinVar
320674 336184 Benign Giant_axonal_neuropathy_1 . 0.67113 HET Link to ClinVar
320678 342450 Benign Giant_axonal_neuropathy_1 . 0.64177 HET Link to ClinVar
320683 336191 Benign Giant_axonal_neuropathy_1 . 0.30551 HET Link to ClinVar
320688 326450 Uncertain_significance Giant_axonal_neuropathy_1 . 0.002 HET Link to ClinVar
403316 390119 Benign not_specified 0.72477 0.73323 HOM Link to ClinVar
403317 390125 Benign not_specified . 0.21206 HET Link to ClinVar
403318 390128 Benign not_specified 0.55093 0.54113 HET Link to ClinVar
403320 390208 Benign not_specified 0.4158 0.40655 HET Link to ClinVar
403322 390314 Benign not_specified . 0.77496 HOM Link to ClinVar
403323 390182 Benign not_specified . 0.51977 HET Link to ClinVar
403324 390147 Benign not_specified 0.44867 0.3139 HET Link to ClinVar
257644 255899 Benign not_specified 0.99593 0.9387 HOM Link to ClinVar
257649 255902 Benign not_specified . 0.53415 HOM Link to ClinVar
257647 255908 Benign not_specified 0.81078 0.81609 HOM Link to ClinVar
95501 101400 Benign Deficiency_of_malonyl-CoA_decarboxylase
not_specified		 . 0.95707 HOM Link to ClinVar
768800 778222 Benign not_provided . . HET Link to ClinVar
291145 275382 Benign not_specified . 0.58506 HET Link to ClinVar
163086 176164 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_13
not_specified
not_provided		 0.52799 0.53175 HET Link to ClinVar
262933 255935 Benign Primary_ciliary_dyskinesia
not_specified		 0.51063 0.5018 HET Link to ClinVar
402596 390214 Benign not_specified 0.40075 0.32029 HET Link to ClinVar
320801 336334 Benign Persistent_fetal_circulation . 0.85024 HOM Link to ClinVar
320809 336352 Benign Persistent_fetal_circulation . . HET Link to ClinVar
320818 344175 Benign Persistent_fetal_circulation . 0.81789 HOM Link to ClinVar
320822 344178 Benign Persistent_fetal_circulation . 0.52736 HET Link to ClinVar
320831 344180 Benign Persistent_fetal_circulation . . . Link to ClinVar
379947 375545 Benign not_specified
not_provided		 0.42988 0.27796 HET Link to ClinVar
193177 190342 Benign Brittle_cornea_syndrome_1
not_specified		 0.98273 0.98902 HOM Link to ClinVar
193178 190343 Benign Brittle_cornea_syndrome_1
not_specified		 . 0.85503 HOM Link to ClinVar
320866 336441 Benign Brittle_cornea_syndrome_1
not_specified		 0.99955 0.99161 HOM Link to ClinVar
320872 336442 Benign Brittle_cornea_syndrome_1
not_specified		 0.94436 0.8748 HOM Link to ClinVar
193173 190338 Benign Brittle_cornea_syndrome_1
not_specified		 1 1 HOM Link to ClinVar
285444 269681 Benign Brittle_cornea_syndrome_1
not_specified		 0.96031 0.90256 HOM Link to ClinVar
285445 269682 Benign Brittle_cornea_syndrome_1
not_specified		 0.90217 0.81889 HOM Link to ClinVar
281205 265442 Benign Brittle_cornea_syndrome_1
not_specified		 0.87483 0.84425 HOM Link to ClinVar
285042 269279 Benign Brittle_cornea_syndrome_1
not_specified		 0.92777 0.84645 HOM Link to ClinVar
320943 336479 Benign Brittle_cornea_syndrome_1
not_specified		 0.86478 0.77955 HOM Link to ClinVar
288513 272750 Benign Brittle_cornea_syndrome_1
not_specified		 0.53451 0.47005 HOM Link to ClinVar
195125 192286 Benign Brittle_cornea_syndrome_1
not_specified		 0.99834 0.99621 HOM Link to ClinVar
195114 192275 Benign Brittle_cornea_syndrome_1
not_specified		 0.99981 0.9992 HOM Link to ClinVar
321031 326742 Benign Brittle_cornea_syndrome_1
not_specified		 0.78855 0.79633 HOM Link to ClinVar
321034 336532 Benign Brittle_cornea_syndrome_1
not_specified		 0.99574 0.98722 HOM Link to ClinVar
321047 342833 Benign Brittle_cornea_syndrome_1 . . HOM Link to ClinVar
321051 342834 Benign Brittle_cornea_syndrome_1 . 0.94728 HOM Link to ClinVar
321056 342835 Benign Brittle_cornea_syndrome_1 . 0.98622 HOM Link to ClinVar
321059 336547 Benign Brittle_cornea_syndrome_1 . . HOM Link to ClinVar
321064 344469 Benign Brittle_cornea_syndrome_1 . 0.84086 HOM Link to ClinVar
198042 195203 Benign not_specified 0.68923 0.73742 HET Link to ClinVar
2263 17302 Benign CYBA_POLYMORPHISM
Very_early_onset_inflammatory_bowel_disease
Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative
not_specified		 0.69083 0.66434 HET Link to ClinVar
196207 193368 Benign not_specified 0.48207 0.36601 HET Link to ClinVar
440040 433792 Benign not_specified 0.88956 0.86781 HOM Link to ClinVar
440041 433793 Benign not_specified 0.59224 0.6857 HOM Link to ClinVar
440048 433800 Benign not_specified 0.89648 0.89197 HOM Link to ClinVar
440055 433807 Benign not_specified 0.05393 0.03614 HET Link to ClinVar
440049 433801 Benign not_specified . 0.85244 HET Link to ClinVar
381268 377889 Benign not_specified 0.83165 0.85963 HET Link to ClinVar
440050 433802 Benign not_specified 0.85098 0.8726 HET Link to ClinVar
440042 433794 Benign not_specified 0.84915 0.8722 HET Link to ClinVar
440058 433810 Benign not_specified 0.10017 0.10543 HET Link to ClinVar
440039 433791 Benign not_specified 0.32428 0.43031 HET Link to ClinVar
440051 433803 Benign not_specified 0.6942 0.75719 HOM Link to ClinVar
440054 433806 Benign not_specified . 0.03834 HET Link to ClinVar
440043 433795 Benign Lymphedema,_hereditary,_III
not_specified		 0.7823 0.82029 HET Link to ClinVar
440046 433798 Benign not_specified 0.86619 0.90935 HOM Link to ClinVar
440047 433799 Benign not_specified 0.3363 0.29932 HOM Link to ClinVar
128680 134129 Benign Meier-Gorlin_syndrome_4
not_specified		 0.99934 0.9998 HOM Link to ClinVar
128683 134132 Benign Meier-Gorlin_syndrome_4
not_specified		 0.81834 0.87021 HOM Link to ClinVar
388732 375615 Uncertain_significance not_provided 0.00065 0.0012 HET Link to ClinVar
203598 200301 Benign not_specified . . HOM Link to ClinVar
136269 139972 Benign not_specified 0.69985 0.6244 HOM Link to ClinVar
136271 139974 Benign not_specified . 0.84924 HOM Link to ClinVar
136272 139975 Benign not_specified 0.70719 0.61901 HOM Link to ClinVar
136273 139976 Benign not_specified 0.70778 0.61981 HOM Link to ClinVar
136274 139977 Benign not_specified 0.7105 0.61981 HOM Link to ClinVar
136275 139978 Benign not_specified 0.7106 0.61981 HOM Link to ClinVar
136276 139979 Benign not_specified . 0.61921 HOM Link to ClinVar
439364 433338 Benign Combined_malonic_and_methylmalonic_aciduria 0.05429 . HET Link to ClinVar
128641 134090 Likely_benign not_specified 0.19386 0.17552 HET Link to ClinVar
128646 134095 Benign not_specified 0.49917 0.45308 HET Link to ClinVar
128647 134096 Likely_benign not_specified 0.50741 0.4998 HET Link to ClinVar
587797 580427 Benign Autism_spectrum_disorder 0.63785 0.53355 HOM Link to ClinVar
707161 693969 Benign not_provided . . HET Link to ClinVar
670118 667657 Benign not_provided . . HET Link to ClinVar
669572 668688 Benign not_provided . . HET Link to ClinVar
670123 668692 Benign not_provided . . HET Link to ClinVar
670124 668549 Benign not_provided . . HET Link to ClinVar
258910 255958 Benign Spastic_paraplegia_7
not_specified
Spastic_Paraplegia,_Recessive		 0.47715 0.52935 HET Link to ClinVar
671136 668714 Benign not_provided . . HET Link to ClinVar
670125 668716 Benign not_provided . . HET Link to ClinVar
258911 255959 Benign Spastic_paraplegia_7
not_specified
Spastic_Paraplegia,_Recessive
not_provided		 . 0.52935 HET Link to ClinVar
670126 667663 Benign not_provided . . HET Link to ClinVar
669951 668551 Benign not_provided . . HET Link to ClinVar
684094 668720 Benign not_provided . . HET Link to ClinVar
130369 135816 Benign/Likely_benign Spastic_paraplegia_7
not_specified
Spastic_Paraplegia,_Recessive
not_provided		 0.15071 0.10643 HET Link to ClinVar
670128 668563 Benign not_provided . . HET Link to ClinVar
670129 669000 Benign not_provided . . HOM Link to ClinVar
667498 668565 Benign not_provided . . HET Link to ClinVar
671694 668722 Benign not_provided . . HET Link to ClinVar
130370 135817 Benign/Likely_benign Spastic_paraplegia_7
not_specified
Spastic_Paraplegia,_Recessive
not_provided		 0.15091 0.10583 HET Link to ClinVar
321297 326827 Likely_benign Spastic_Paraplegia,_Recessive . . HET Link to ClinVar
680112 669003 Benign not_provided . . HET Link to ClinVar
680104 667705 Benign not_provided . . HET Link to ClinVar
679125 668737 Benign not_provided . . HET Link to ClinVar
668086 667711 Benign not_provided . . HET Link to ClinVar
14311 29350 Benign Skin/hair/eye_pigmentation_2,_blond_hair/fair_skin
Malignant_Melanoma_Susceptibility
not_specified		 0.08321 0.03534 HET Link to ClinVar
670259 667719 Benign not_provided . . HOM Link to ClinVar
402891 390188 Benign not_specified 0.32401 0.26438 HET Link to ClinVar
402894 390321 Benign not_specified . 0.84425 HOM Link to ClinVar
667586 669450 Benign not_provided . . HET Link to ClinVar
380878 378523 Benign not_specified 0.27844 0.34864 HET Link to ClinVar
667585 669170 Benign not_provided . . HET Link to ClinVar
670837 669005 Benign not_provided . . HET Link to ClinVar
670836 668251 Benign not_provided . . HET Link to ClinVar
380877 375663 Benign not_specified 0.18626 0.22105 HET Link to ClinVar
667584 669547 Benign not_provided . . HOM Link to ClinVar
669397 669304 Benign not_provided . . HET Link to ClinVar
670835 669307 Benign not_provided . . HET Link to ClinVar
671930 669310 Benign not_provided . . HET Link to ClinVar
670268 656467 Benign not_provided . . HET Link to ClinVar
671876 669560 Benign not_provided . . HET Link to ClinVar
768812 703962 Benign not_provided . . HET Link to ClinVar
260033 256080 Benign not_specified 0.41415 0.36262 HET Link to ClinVar
508101 505951 Benign not_specified 0.72522 0.71166 HOM Link to ClinVar
508100 505952 Benign not_specified 0.86323 0.82089 HOM Link to ClinVar
508157 505968 Benign not_specified 0.1117 0.06629 HET Link to ClinVar
683015 669145 Benign not_provided . . HET Link to ClinVar
321889 337224 Likely_benign Retinitis_Pigmentosa,_Dominant 0.21714 0.27356 HET Link to ClinVar
321898 343473 Likely_benign Retinitis_Pigmentosa,_Dominant 0.21293 0.26158 HET Link to ClinVar
321906 343496 Likely_benign Retinitis_Pigmentosa,_Dominant 0.217 0.27236 HET Link to ClinVar
321915 343505 Likely_benign Retinitis_Pigmentosa,_Dominant 0.21736 0.27217 HET Link to ClinVar
321917 343509 Likely_benign Retinitis_Pigmentosa,_Dominant 0.18707 0.2504 HET Link to ClinVar
130734 136180 Likely_benign not_specified 0.26062 0.23323 HET Link to ClinVar
130735 136181 Likely_benign not_specified 0.26975 0.26717 HET Link to ClinVar
130736 136182 Likely_benign not_specified 0.27743 0.29852 HET Link to ClinVar
130739 136185 Likely_benign not_specified 0.28112 0.27895 HET Link to ClinVar
130740 136186 Likely_benign not_specified 0.51635 0.53954 HET Link to ClinVar
130741 136187 Benign/Likely_benign Cerebellar_ataxia,_mental_retardation,_and_dysequilibrium_syndrome_2
not_specified		 0.7526 0.76238 HET Link to ClinVar
130744 136190 Likely_benign not_specified 0.73422 0.71765 HET Link to ClinVar
674942 668879 Benign not_provided . . HET Link to ClinVar
322000 337339 Benign Osteogenesis_imperfecta,_type_VI
not_specified
Osteogenesis_Imperfecta,_Recessive		 0.61882 0.6262 HOM Link to ClinVar
667593 668883 Benign not_provided . . HET Link to ClinVar
667594 668885 Benign not_provided . . HET Link to ClinVar
674943 668893 Benign Osteogenesis_imperfecta,_type_VI
not_provided		 . . HET Link to ClinVar
674945 667837 Benign not_provided . . HET Link to ClinVar
674946 669188 Benign not_provided . . HET Link to ClinVar
674948 669190 Benign not_provided . . HET Link to ClinVar
322012 343606 Benign Osteogenesis_imperfecta,_type_VI
not_specified
Osteogenesis_Imperfecta,_Recessive		 0.72924 0.77676 HET Link to ClinVar
667540 668929 Benign not_provided . . HOM Link to ClinVar
159528 169359 Benign not_specified
not_provided		 0.91485 0.89237 HOM Link to ClinVar
667794 668773 Benign not_provided . . HOM Link to ClinVar
674160 668778 Benign not_provided . . HOM Link to ClinVar
667542 669231 Benign not_provided . . HOM Link to ClinVar
673026 668938 Benign not_provided . . HET Link to ClinVar
42175 51341 Benign Lissencephaly_1
not_specified
Lissencephaly/Subcortical_Band_Heterotopia		 0.21204 0.13858 HET Link to ClinVar
322281 345238 Benign Lissencephaly/Subcortical_Band_Heterotopia . 0.83666 HOM Link to ClinVar
322300 343787 Likely_benign Lissencephaly/Subcortical_Band_Heterotopia . 0.001 HET Link to ClinVar
322332 343814 Uncertain_significance Lissencephaly/Subcortical_Band_Heterotopia . . HET Link to ClinVar
322681 328033 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.14058 HET Link to ClinVar
322682 344101 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.43431 HET Link to ClinVar
322692 337867 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.94329 HOM Link to ClinVar
322694 344105 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.94249 HOM Link to ClinVar
322696 345500 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.84545 HOM Link to ClinVar
322699 345504 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.94229 HOM Link to ClinVar
322701 337879 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.13978 HET Link to ClinVar
322709 344111 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.94509 HOM Link to ClinVar
322719 344115 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.13958 HET Link to ClinVar
322720 345531 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.43411 HET Link to ClinVar
322723 337891 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.90575 HOM Link to ClinVar
322728 337904 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.5649 HET Link to ClinVar
322730 345539 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.92093 HOM Link to ClinVar
322731 328071 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.36701 HET Link to ClinVar
322735 337920 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.46805 HET Link to ClinVar
322741 337926 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.99601 HOM Link to ClinVar
322788 337972 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.57907 HOM Link to ClinVar
322795 345570 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques 0.64045 0.66254 HOM Link to ClinVar
322796 344159 Benign/Likely_benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques
not_provided		 0.00922 0.00319 HET Link to ClinVar
322799 345577 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques 0.99943 0.9972 HOM Link to ClinVar
322806 328144 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.26797 HET Link to ClinVar
322811 328145 Benign Palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques . 0.69229 HET Link to ClinVar
791431 715392 Benign not_provided . . HET Link to ClinVar
189125 186968 Benign Nephropathic_cystinosis . 0.86122 HET Link to ClinVar
558924 549742 Benign not_provided 0.9538 0.84525 HOM Link to ClinVar
683626 667876 Benign not_provided . . HET Link to ClinVar
257157 256153 Benign Nephropathic_cystinosis
Cystinosis
not_specified
not_provided		 0.91828 0.81829 HOM Link to ClinVar
257152 256155 Benign Nephropathic_cystinosis
Cystinosis
not_specified
not_provided		 0.25142 0.22863 HET Link to ClinVar
322892 345655 Benign Nephropathic_cystinosis
Cystinosis		 . 0.74201 HET Link to ClinVar
322899 328216 Uncertain_significance Nephropathic_cystinosis
Cystinosis		 . 0.00759 HET Link to ClinVar
322913 328225 Benign Nephropathic_cystinosis
Cystinosis		 . 0.63838 HOM Link to ClinVar
322914 328229 Benign Nephropathic_cystinosis
Cystinosis		 . 0.76757 HOM Link to ClinVar
322920 328241 Benign Nephropathic_cystinosis
Cystinosis		 . 0.36162 HET Link to ClinVar
403283 390187 Benign not_specified . . HET Link to ClinVar
768821 778471 Benign not_provided . . HOM Link to ClinVar
721195 731146 Benign not_provided . . HET Link to ClinVar
226006 227792 drug_response not_specified
aspirin_response_-_Efficacy		 0.09796 0.13159 HET Link to ClinVar
255467 256260 Benign not_specified 0.15348 0.84225 HOM Link to ClinVar
324134 339128 Benign Glycogen_storage_disease_type_13
not_specified		 . 0.32608 HET Link to ClinVar
324136 346462 Benign Glycogen_storage_disease_type_13
not_specified
not_provided		 0.64928 0.5641 HOM Link to ClinVar
324138 339134 Benign Glycogen_storage_disease_type_13
not_specified
not_provided		 0.46061 0.30391 HET Link to ClinVar
403467 390198 Benign not_specified 0.78382 0.70288 HOM Link to ClinVar
682849 669096 Benign not_provided . . HET Link to ClinVar
516675 506467 Benign not_specified . . HET Link to ClinVar
682850 669100 Benign not_provided . . HET Link to ClinVar
424675 411591 Conflicting_interpretations_of_pathogenicity Hereditary_spastic_paraplegia
not_specified
not_provided		 0.00351 0.0006 HET Link to ClinVar
380828 378498 Benign not_specified 0.11172 0.0629 HET Link to ClinVar
380827 376339 Benign not_specified 0.71428 0.67512 HET Link to ClinVar
684053 656452 Benign not_provided . . HOM Link to ClinVar
684048 656453 Benign not_provided . . HOM Link to ClinVar
403240 390199 Benign not_specified 0.45485 0.41793 HET Link to ClinVar
4163 19202 risk_factor Vitiligo-associated_multiple_autoimmune_disease_susceptibility_1 0.37495 0.19209 HOM Link to ClinVar
324569 339690 Likely_benign Leber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive		 . 0.04712 HET Link to ClinVar
324577 339707 Likely_benign Leber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive		 . 0.12121 HET Link to ClinVar
324579 329421 Likely_benign Leber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive		 . 0.07508 HET Link to ClinVar
324587 339716 Likely_benign Leber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive		 . 0.19649 HET Link to ClinVar
324594 339722 Likely_benign Leber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive		 . 0.61562 HET Link to ClinVar
99805 105694 Benign/Likely_benign Leber_congenital_amaurosis
not_specified
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
not_provided		 0.72498 0.71366 HET Link to ClinVar
166655 177472 Benign/Likely_benign Leber_congenital_amaurosis
not_specified
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive		 0.63459 0.57588 HET Link to ClinVar
99789 105678 Likely_benign Leber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
not_provided		 0.02192 0.00619 HET Link to ClinVar
324659 345498 Benign Cone-Rod_Dystrophy,_Dominant . . HOM Link to ClinVar
324663 345511 Uncertain_significance Cone-Rod_Dystrophy,_Dominant . . HET Link to ClinVar
324671 346833 Uncertain_significance Cone-Rod_Dystrophy,_Dominant . . HOM Link to ClinVar
324683 339763 Benign Cone-Rod_Dystrophy,_Dominant . 0.33307 HET Link to ClinVar
324731 339793 Benign Cone-Rod_Dystrophy,_Dominant . 0.70567 HOM Link to ClinVar
324732 339795 Benign Cone-Rod_Dystrophy,_Dominant . . HOM Link to ClinVar
324737 346872 Benign Cone-Rod_Dystrophy,_Dominant . 0.4367 HOM Link to ClinVar
261946 256341 Benign not_specified
Cone-Rod_Dystrophy,_Dominant
not_provided		 0.86871 0.91394 HOM Link to ClinVar
667465 669067 Benign not_provided . . HET Link to ClinVar
672845 668237 Benign not_provided . . HET Link to ClinVar
667464 669271 Benign not_provided . . HET Link to ClinVar
668854 668239 Benign not_provided . . HET Link to ClinVar
670097 669068 Benign not_provided . . HET Link to ClinVar
672844 669070 Benign not_provided . . HET Link to ClinVar
670096 669288 Benign not_provided . . HET Link to ClinVar
670095 669076 Benign not_provided . . HET Link to ClinVar
672896 669535 Likely_benign not_provided . . HET Link to ClinVar
786837 715660 Benign not_provided . . HET Link to ClinVar
166637 177462 Benign Very_long_chain_acyl-CoA_dehydrogenase_deficiency
not_specified		 . 0.46785 HET Link to ClinVar
92277 98188 Benign Very_long_chain_acyl-CoA_dehydrogenase_deficiency
not_specified		 0.60003 0.51977 HET Link to ClinVar
679141 669333 Benign not_provided . . HET Link to ClinVar
128752 134201 Benign/Likely_benign not_specified
Congenital_Myasthenic_Syndrome,_Dominant/Recessive		 0.1748 0.1873 HET Link to ClinVar
256772 256403 Benign not_specified
not_provided		 0.99088 0.96705 HOM Link to ClinVar
679143 669339 Benign not_provided . . HET Link to ClinVar
256773 256404 Benign not_specified 0.1756 0.18291 HET Link to ClinVar
325109 345778 Benign Congenital_Myasthenic_Syndrome,_Dominant/Recessive . 0.30571 HET Link to ClinVar
325112 345779 Likely_benign Congenital_Myasthenic_Syndrome,_Dominant/Recessive . 0.18191 HET Link to ClinVar
325511 345999 Likely_benign Congenital_disorder_of_glycosylation . 0.24062 HET Link to ClinVar
325524 330041 Benign Congenital_disorder_of_glycosylation 0.80947 0.68191 HET Link to ClinVar
325623 340457 Likely_benign Li-Fraumeni_syndrome . 0.05711 HET Link to ClinVar
256603 256462 Benign not_specified . 0.83367 HET Link to ClinVar
440348 433983 Benign not_specified . 0.84285 HET Link to ClinVar
803309 791833 Likely_benign Squamous_cell_carcinoma_of_the_head_and_neck . . HET Link to ClinVar
695142 685438 Benign not_provided . . HET Link to ClinVar
256604 256464 Benign not_specified 0.06587 0.07768 HET Link to ClinVar
260999 256472 Benign not_specified
Dyskeratosis_Congenita,_Recessive		 . 0.51118 HET Link to ClinVar
402705 390368 Benign not_specified 0.12992 0.08626 HET Link to ClinVar
402707 390242 Benign not_specified . 0.35803 HET Link to ClinVar
402708 390253 Benign not_specified 0.24234 0.12041 HET Link to ClinVar
402709 390245 Benign not_specified 0.87417 0.76138 HOM Link to ClinVar
402710 390251 Benign not_specified 0.60273 0.53395 HOM Link to ClinVar
402712 390252 Benign not_specified 0.28049 0.17133 HET Link to ClinVar
402713 390255 Benign not_specified 0.60587 0.61102 HET Link to ClinVar
9353 24392 Benign Leber_congenital_amaurosis_1
not_specified
not_provided		 0.52114 0.41594 HOM Link to ClinVar
257554 256545 Benign Congenital_ichthyosiform_erythroderma
not_specified		 0.37597 0.45447 HOM Link to ClinVar
325934 340784 Benign Congenital_ichthyosiform_erythroderma . 0.38139 HET Link to ClinVar
325949 330553 Benign Congenital_ichthyosiform_erythroderma . 0.48203 HET Link to ClinVar
325991 346455 Benign Dyskeratosis_Congenita,_Recessive . 0.33307 HET Link to ClinVar
128861 134309 Benign not_specified
Dyskeratosis_Congenita,_Recessive		 0.75086 0.66354 HET Link to ClinVar
128860 134308 Benign not_specified
Dyskeratosis_Congenita,_Recessive		 0.95074 0.9373 HET Link to ClinVar
261822 256553 Benign not_specified
Dyskeratosis_Congenita,_Recessive		 . 1 HOM Link to ClinVar
129893 135339 Benign not_specified 0.41079 0.44349 HET Link to ClinVar
129894 135340 Benign not_specified 0.4103 0.44269 HET Link to ClinVar
692209 679951 Uncertain_significance Nonsyndromic_cleft_lip_with_or_without_cleft_palate . . HET Link to ClinVar
129678 135124 Benign/Likely_benign Hecht_syndrome
not_specified		 0.50958 0.48542 HOM Link to ClinVar
129674 135120 Benign/Likely_benign Hecht_syndrome
not_specified		 0.50249 0.47364 HOM Link to ClinVar
129680 135126 Benign/Likely_benign Hecht_syndrome
not_specified		 0.9224 0.86242 HET Link to ClinVar
258701 256041 Benign not_specified . 0.51418 HET Link to ClinVar
258698 256045 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.64132 0.51358 HET Link to ClinVar
258694 256046 Likely_benign not_specified 0.03598 0.04054 HET Link to ClinVar
258691 256048 Benign not_specified . 0.72384 HOM Link to ClinVar
258690 256049 Benign not_specified 0.60951 0.46685 HET Link to ClinVar
129663 135109 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.60895 0.46965 HET Link to ClinVar
129658 135104 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.69018 0.58646 HOM Link to ClinVar
129656 135102 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 . 0.46645 HET Link to ClinVar
129653 135099 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.6094 0.46645 HET Link to ClinVar
258676 256059 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.60885 0.46645 HET Link to ClinVar
129652 135098 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.60852 0.46625 HET Link to ClinVar
129651 135097 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.04291 0.0617 HET Link to ClinVar
129650 135096 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.60852 0.46645 HET Link to ClinVar
258673 256062 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.61399 0.46665 HET Link to ClinVar
129649 135095 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 . . HET Link to ClinVar
129648 135094 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 0.04292 0.0617 HET Link to ClinVar
321752 337081 Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome		 . . . Link to ClinVar
258671 256063 Benign/Likely_benign Arthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified		 . 0.52596 HOM Link to ClinVar
258668 256066 Benign not_specified 0.6075 0.46605 HET Link to ClinVar
258667 256067 Benign not_specified 0.60732 0.46426 HET Link to ClinVar
258695 256072 Benign not_specified 0.65051 0.52576 HOM Link to ClinVar
258682 256077 Benign not_specified 0.60762 0.46406 HET Link to ClinVar
321780 344879 Benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency		 . 0.47784 HET Link to ClinVar
321785 344888 Benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency		 . 1 HOM Link to ClinVar
683702 668791 Benign not_provided . . HET Link to ClinVar
676257 668646 Benign not_provided . . HET Link to ClinVar
683701 668648 Benign not_provided . . HET Link to ClinVar
402773 390159 Benign not_specified 0.45216 0.44329 HET Link to ClinVar
402776 390325 Benign not_specified 0.97219 0.94788 HOM Link to ClinVar
402777 390327 Benign not_specified 0.7938 0.77017 HET Link to ClinVar
402778 390221 Benign not_specified 0.22134 0.22464 HET Link to ClinVar
402780 390330 Benign not_specified 0.34686 0.35344 HET Link to ClinVar
402782 390174 Benign not_specified . 0.40355 HET Link to ClinVar
402783 390235 Benign not_specified 0.45283 0.38598 HET Link to ClinVar
402786 390179 Benign not_specified 0.18015 0.16374 HET Link to ClinVar
402788 390186 Benign not_specified 0.18408 0.16014 HET Link to ClinVar
674688 668792 Benign not_provided . . HOM Link to ClinVar
379967 378068 Benign not_specified 0.2716 0.20847 HET Link to ClinVar
683498 668830 Benign not_provided . . HET Link to ClinVar
683497 668832 Benign not_provided . . HET Link to ClinVar
321803 343328 Benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency		 . 0.99561 HOM Link to ClinVar
137005 140708 Benign/Likely_benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided		 0.05946 0.03315 HET Link to ClinVar
669477 667774 Benign not_provided . . HET Link to ClinVar
672514 668839 Benign not_provided . . HET Link to ClinVar
137006 140709 Benign/Likely_benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided		 0.07646 0.0615 HET Link to ClinVar
137009 140712 Benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided		 0.49447 0.46386 HET Link to ClinVar
137003 140706 Benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided		 0.52231 0.49181 HOM Link to ClinVar
683592 669120 Benign not_provided . . HOM Link to ClinVar
136995 140698 Benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified		 0.58497 0.54832 HOM Link to ClinVar
321822 327302 Likely_benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency		 . 0.20168 HOM Link to ClinVar
321839 343366 Likely_benign Leigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency		 . 0.20188 HOM Link to ClinVar
321853 343376 Likely_benign Hereditary_liability_to_pressure_palsies
Charcot-Marie-Tooth_disease,_type_I		 . . HOM Link to ClinVar
321859 343380 Benign Hereditary_liability_to_pressure_palsies
Charcot-Marie-Tooth_disease,_type_I		 0.53508 0.59545 HOM Link to ClinVar
677066 667803 Likely_benign not_provided . . HET Link to ClinVar
633487 621914 Benign Charcot-Marie-Tooth_disease,_type_I 0.55019 0.61042 HOM Link to ClinVar
667505 668869 Benign not_provided . . HOM Link to ClinVar
321969 343401 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_type_1 0.49303 0.49441 HOM Link to ClinVar
321984 337188 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_type_1 0.44622 0.36741 HOM Link to ClinVar
321990 343431 Benign Coloboma,_Congenital_Heart_Disease,_Ichthyosiform_Dermatosis,_Intellectual_Disability,_and_Ear_Anomalies_(CHIME)_Syndrome 0.41399 0.26737 HOM Link to ClinVar
36879 45540 Benign Common_variable_immunodeficiency_2
not_specified
Common_Variable_Immune_Deficiency,_Dominant		 0.81119 0.89956 HOM Link to ClinVar
322033 343533 Benign Spontaneous_pneumothorax
Multiple_fibrofolliculomas		 . 0.71306 HOM Link to ClinVar
322048 337305 Benign Spontaneous_pneumothorax
Multiple_fibrofolliculomas		 . 0.71066 HOM Link to ClinVar
96468 102362 Benign Spontaneous_pneumothorax
Multiple_fibrofolliculomas
not_specified
not_provided		 0.50234 0.503 HOM Link to ClinVar
96486 102380 Benign Spontaneous_pneumothorax
Multiple_fibrofolliculomas
not_specified
not_provided		 0.48408 0.40515 HOM Link to ClinVar
322082 343588 Benign Spontaneous_pneumothorax
Multiple_fibrofolliculomas		 . 0.42832 HOM Link to ClinVar
322087 337331 Benign Spontaneous_pneumothorax
Multiple_fibrofolliculomas		 . 0.74321 HOM Link to ClinVar
96183 102077 Benign Smith-Magenis_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.48818 0.66693 HET Link to ClinVar
96194 102088 Benign Smith-Magenis_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.44167 0.5637 HET Link to ClinVar
167558 177998 Uncertain_significance not_provided 0.00019 . HET Link to ClinVar
96179 102073 Benign Smith-Magenis_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.50691 0.39976 HET Link to ClinVar
96195 102089 Benign Smith-Magenis_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.42141 0.24062 HET Link to ClinVar
669691 669203 Benign not_provided . . HET Link to ClinVar
669688 668760 Benign not_provided . . HET Link to ClinVar
322102 345134 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.60743 HET Link to ClinVar
322106 343645 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.60703 HET Link to ClinVar
195315 192476 Benign/Likely_benign Deafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.52888 0.55351 HET Link to ClinVar
226778 230693 Benign/Likely_benign Deafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.52583 0.5659 HET Link to ClinVar
226779 230696 Benign/Likely_benign Deafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.49601 HET Link to ClinVar
682532 668764 Benign not_provided . . HET Link to ClinVar
682533 668766 Benign not_provided . . HET Link to ClinVar
45751 54916 Benign/Likely_benign Deafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.71307 0.68431 HET Link to ClinVar
45753 54918 Benign/Likely_benign Deafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.73948 0.71805 HET Link to ClinVar
45758 54923 Benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.98947 0.98982 HOM Link to ClinVar
45761 54926 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.56359 0.39078 HET Link to ClinVar
226789 230743 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 . 0.21026 HET Link to ClinVar
45774 54939 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.17672 0.15755 HET Link to ClinVar
45775 54940 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.1854 0.15695 HET Link to ClinVar
45744 54909 Benign/Likely_benign Deafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.7312 0.72145 HET Link to ClinVar
322191 327624 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.15675 HET Link to ClinVar
322196 327635 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . 0.72105 HET Link to ClinVar
260675 256099 Benign Meckel_syndrome,_type_9
not_specified		 0.5994 0.3105 HOM Link to ClinVar
674719 667861 Benign not_provided . . HOM Link to ClinVar
322219 345179 Benign Sjögren-Larsson_syndrome
not_provided		 0.61541 0.67851 HET Link to ClinVar
322237 345207 Benign Sjögren-Larsson_syndrome . . HET Link to ClinVar
322240 327687 Benign Sjögren-Larsson_syndrome . . HET Link to ClinVar
5404 20443 risk_factor Cardiac_conduction_defect,_susceptibility_to 0.37365 0.39397 HET Link to ClinVar
768841 778368 Benign not_provided . . HET Link to ClinVar
768842 704020 Benign not_provided . . HET Link to ClinVar
768843 704021 Benign not_provided . . HET Link to ClinVar
768849 704027 Likely_benign not_provided . . HET Link to ClinVar
768850 778456 Benign not_provided . . HET Link to ClinVar
218844 215533 Uncertain_significance not_specified 0.28464 . HET Link to ClinVar
768852 704029 Likely_benign not_provided . . HET Link to ClinVar
768853 704030 Likely_benign not_provided . . HET Link to ClinVar
768854 778324 Benign not_provided . . HET Link to ClinVar
768855 778240 Benign not_provided . . HET Link to ClinVar
768856 704032 Likely_benign not_provided . . HET Link to ClinVar
768857 704034 Likely_benign not_provided . . HET Link to ClinVar
768858 704035 Likely_benign not_provided . . HET Link to ClinVar
768859 704036 Benign not_provided . . HET Link to ClinVar
768860 704037 Likely_benign not_provided . . HET Link to ClinVar
768861 704038 Benign not_provided . . HET Link to ClinVar
322335 337587 Benign Congenital_defect_of_folate_absorption . 0.61741 HOM Link to ClinVar
322336 327762 Benign Congenital_defect_of_folate_absorption . 0.61741 HOM Link to ClinVar
322341 327778 Benign Congenital_defect_of_folate_absorption . . HET Link to ClinVar
322346 345316 Benign Congenital_defect_of_folate_absorption . 0.61661 HOM Link to ClinVar
322348 345318 Benign Congenital_defect_of_folate_absorption . 0.61202 HOM Link to ClinVar
322361 327801 Benign Congenital_defect_of_folate_absorption . 0.53395 HOM Link to ClinVar
322362 345325 Benign Congenital_defect_of_folate_absorption . 0.75499 HOM Link to ClinVar
322384 343853 Benign Congenital_defect_of_folate_absorption . 0.60523 HOM Link to ClinVar
322393 345336 Benign Congenital_defect_of_folate_absorption . 0.54852 HOM Link to ClinVar
379390 374904 Benign not_specified 0.71492 0.65076 HET Link to ClinVar
379409 375818 Benign not_specified 0.38597 0.43071 HET Link to ClinVar
322436 337689 Benign T-cell_immunodeficiency,_congenital_alopecia_and_nail_dystrophy
not_specified		 0.32289 0.39277 HET Link to ClinVar
322494 345410 Benign Nephronophthisis . 0.39078 HET Link to ClinVar
259672 256112 Benign not_specified
not_provided		 0.21706 0.29074 HET Link to ClinVar
322509 327926 Likely_benign Behavior_disorder . 0.58107 HOM Link to ClinVar
322518 327928 Likely_benign Behavior_disorder . 0.48343 HOM Link to ClinVar
322521 343987 Likely_benign Behavior_disorder . 0.48522 HOM Link to ClinVar
322546 327950 Likely_benign Behavior_disorder . 0.79633 HOM Link to ClinVar
561756 552872 Benign not_provided . 0.65256 HET Link to ClinVar
561463 552873 Benign not_provided . 0.50998 HET Link to ClinVar
257283 256114 Benign not_specified
not_provided		 0.623 0.50978 HET Link to ClinVar
561464 552882 Benign not_provided . 0.48842 HET Link to ClinVar
183825 184518 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome
not_specified
not_provided		 0.6228 0.51178 HET Link to ClinVar
561465 552890 Benign not_provided . 0.47804 HET Link to ClinVar
561466 552891 Benign not_provided . 0.49361 HET Link to ClinVar
561757 552900 Benign not_provided . 0.51757 HET Link to ClinVar
561758 552901 Benign not_provided . 0.51058 HET Link to ClinVar
561759 552902 Benign not_provided . 0.47444 HET Link to ClinVar
561468 552904 Benign not_provided . 0.61062 HET Link to ClinVar
257276 256117 Benign not_specified
not_provided		 . 0.47404 HET Link to ClinVar
257277 256119 Benign not_specified . . HET Link to ClinVar
257278 256120 Benign not_specified
not_provided		 0.63397 0.47344 HET Link to ClinVar
561760 552913 Benign not_provided . 0.46406 HET Link to ClinVar
183826 184580 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome
not_specified
not_provided		 0.38273 0.49681 HET Link to ClinVar
561469 552936 Benign not_provided . 0.54613 HET Link to ClinVar
561471 552941 Benign not_provided . 0.52616 HET Link to ClinVar
257285 256126 Benign not_specified 0.36763 0.45807 HET Link to ClinVar
561761 552948 Benign not_provided . 0.51158 HET Link to ClinVar
403230 390336 Benign not_specified . 0.59185 HET Link to ClinVar
561762 552959 Benign not_provided . 0.38039 HET Link to ClinVar
257293 256134 Benign not_specified
not_provided		 0.60005 0.60583 HET Link to ClinVar
257294 256135 Benign not_specified
not_provided		 0.53638 0.43191 HET Link to ClinVar
561472 552970 Benign not_provided . 0.43171 HET Link to ClinVar
561766 552975 Benign not_provided . 0.38039 HET Link to ClinVar
561473 552981 Benign not_provided . 0.88678 HOM Link to ClinVar
257300 256140 Benign not_specified
not_provided		 0.90685 0.8738 HOM Link to ClinVar
561763 552992 Benign not_provided . 0.41514 HET Link to ClinVar
561475 552993 Benign not_provided . 0.42452 HET Link to ClinVar
257303 256143 Benign not_specified
not_provided		 . 0.43091 HET Link to ClinVar
561476 553001 Benign not_provided . 0.40236 HET Link to ClinVar
561764 553002 Benign not_provided . 0.24581 HET Link to ClinVar
322597 345469 Likely_benign Neurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome		 . 0.53055 HET Link to ClinVar
322599 327986 Benign Neurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome		 . 0.55871 HET Link to ClinVar
322603 337817 Likely_benign Neurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome		 . 0.61262 HET Link to ClinVar
805606 793662 Benign not_provided . . HET Link to ClinVar
805607 793663 Benign not_provided . . HET Link to ClinVar
805608 793664 Benign not_provided . . HET Link to ClinVar
679676 668941 Benign not_provided . . HOM Link to ClinVar
322635 344170 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . HET Link to ClinVar
322663 345589 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.8774 HET Link to ClinVar
559340 550067 Benign not_provided 0.0137 0.04413 HET Link to ClinVar
322940 345691 Benign Familial_hypoplastic,_glomerulocystic_kidney 0.85239 0.78035 HET Link to ClinVar
36843 45504 Benign Familial_hypoplastic,_glomerulocystic_kidney . 0.65495 HET Link to ClinVar
674360 668961 Benign not_provided . . HET Link to ClinVar
676878 667882 Benign not_provided . . HET Link to ClinVar
676876 668964 Benign not_provided . . HET Link to ClinVar
672693 668785 Benign not_provided . . HET Link to ClinVar
676904 667884 Benign not_provided . . HET Link to ClinVar
322994 345722 Benign Congenital_Stationary_Night_Blindness,_Recessive . 0.30411 HET Link to ClinVar
198441 195602 Benign/Likely_benign not_specified
Congenital_Stationary_Night_Blindness,_Recessive		 0.06525 0.03055 HET Link to ClinVar
323028 338237 Uncertain_significance Congenital_Stationary_Night_Blindness,_Recessive 0.01002 0.00319 HET Link to ClinVar
196294 193455 Benign not_specified
Congenital_Stationary_Night_Blindness,_Recessive		 0.158 0.25859 HET Link to ClinVar
672043 669266 Benign not_provided . . HOM Link to ClinVar
44709 53876 Benign/Likely_benign Hypertrophic_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided		 0.6706 0.54972 HOM Link to ClinVar
679984 656430 Benign not_provided . . HOM Link to ClinVar
135519 139258 not_provided not_specified 0.17617 0.06589 HET Link to ClinVar
134082 137821 not_provided not_specified 0.60698 0.45208 HOM Link to ClinVar
259020 256161 Benign not_specified 0.03847 0.02975 HET Link to ClinVar
66171 77068 not_provided not_provided 0.1974 0.13279 HET Link to ClinVar
403023 390196 Benign not_specified . 0.63638 HET Link to ClinVar
323070 344363 Benign White_sponge_nevus_of_cannon . 0.6897 HET Link to ClinVar
323084 338280 Benign White_sponge_nevus_of_cannon 0.90603 0.79992 HET Link to ClinVar
323093 328372 Benign White_sponge_nevus_of_cannon 0.91394 0.82109 HET Link to ClinVar
323096 344370 Benign White_sponge_nevus_of_cannon 0.85089 0.70527 HET Link to ClinVar
323101 345815 Benign White_sponge_nevus_of_cannon 0.05345 0.07428 HET Link to ClinVar
66540 77437 not_provided not_provided 0.68572 0.73183 HOM Link to ClinVar
66544 77441 not_provided not_provided 0.689 0.68411 HOM Link to ClinVar
323120 328390 Likely_benign Localized_epidermolytic_hyperkeratosis 0.62414 0.64736 HOM Link to ClinVar
323133 344409 Likely_benign Localized_epidermolytic_hyperkeratosis 0.62889 0.66314 HOM Link to ClinVar
66151 77048 Likely_benign Localized_epidermolytic_hyperkeratosis
not_provided		 . . HOM Link to ClinVar
323141 338340 Likely_benign Localized_epidermolytic_hyperkeratosis 0.72923 0.78095 HOM Link to ClinVar
711995 727165 Likely_benign not_provided . . HET Link to ClinVar
66346 77243 Benign not_specified
not_provided		 0.63752 0.68051 HOM Link to ClinVar
256364 256164 Benign not_specified 0.67151 0.68051 HOM Link to ClinVar
771767 704140 Benign not_provided . . HET Link to ClinVar
323159 344426 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease		 . 0.63219 HOM Link to ClinVar
21304 34156 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease
not_specified
Cardiovascular_phenotype		 0.65924 0.58726 HOM Link to ClinVar
672153 668979 Benign not_provided . . HOM Link to ClinVar
672152 667894 Benign not_provided . . HOM Link to ClinVar
261475 256165 Benign not_specified
not_provided		 0.71 0.71725 HOM Link to ClinVar
261474 256166 Benign not_specified
not_provided		 0.6784 0.63898 HOM Link to ClinVar
668841 669272 Benign not_provided . . HET Link to ClinVar
674289 669278 Likely_benign not_provided . . HET Link to ClinVar
258593 256168 Benign not_specified 0.76379 0.74421 HOM Link to ClinVar
683546 667899 Benign not_provided . . HOM Link to ClinVar
45851 55016 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease
Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12
not_specified
Cardiovascular_phenotype		 0.04974 0.02396 HET Link to ClinVar
45845 55010 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease
not_specified
Cardiovascular_phenotype		 . 0.71566 HET Link to ClinVar
673320 668831 Likely_benign not_provided . . HET Link to ClinVar
674288 668990 Likely_benign not_provided . . HET Link to ClinVar
516121 505900 Benign not_specified . . HOM Link to ClinVar
323175 328421 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease		 . 0.65535 HOM Link to ClinVar
516227 506811 Benign not_specified 0.07799 0.06589 HET Link to ClinVar
682701 669283 Benign not_provided . . HET Link to ClinVar
682703 668833 Benign not_provided . . HET Link to ClinVar
682715 668842 Benign not_provided . . HET Link to ClinVar
674879 668998 Benign not_provided . . HET Link to ClinVar
323197 338398 Benign Osteogenesis_Imperfecta,_Recessive . 0.78714 HET Link to ClinVar
323199 345864 Uncertain_significance Osteogenesis_Imperfecta,_Recessive . . HET Link to ClinVar
323203 345866 Benign Osteogenesis_Imperfecta,_Recessive . . HET Link to ClinVar
323218 328440 Benign Hyper-IgE_syndrome . 0.44988 HOM Link to ClinVar
323258 345919 Benign Familial_partial_lipodystrophy . 0.85923 HOM Link to ClinVar
323259 344514 Benign Familial_partial_lipodystrophy . 0.85982 HOM Link to ClinVar
323260 344515 Benign Familial_partial_lipodystrophy . 0.85324 HOM Link to ClinVar
323267 344517 Benign Familial_partial_lipodystrophy . 0.85982 HOM Link to ClinVar
323268 328498 Benign Familial_partial_lipodystrophy . 0.53235 HOM Link to ClinVar
323271 338443 Benign Familial_partial_lipodystrophy . 0.85982 HOM Link to ClinVar
323275 344522 Benign Familial_partial_lipodystrophy . 0.86002 HOM Link to ClinVar
92694 98601 Benign Sanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-B
not_specified
not_provided		 0.9947 0.9976 HOM Link to ClinVar
195051 192213 Benign not_specified . 0.72005 HOM Link to ClinVar
682647 669311 Benign not_provided . . HOM Link to ClinVar
92697 98604 Benign not_specified
not_provided		 . 0.0004 HET Link to ClinVar
682648 667969 Benign not_provided . . HOM Link to ClinVar
92693 98600 Benign Sanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-B
not_specified
not_provided		 . 0.85923 HOM Link to ClinVar
380441 375926 Benign Neurodegeneration_with_brain_iron_accumulation_6
not_specified		 . 0.02496 HET Link to ClinVar
255350 256175 Benign Glycogen_storage_disease,_type_I
not_specified
not_provided		 0.71237 0.63838 HOM Link to ClinVar
323383 344623 Benign Glycogen_storage_disease,_type_I . 0.72664 HOM Link to ClinVar
323389 344627 Benign Glycogen_storage_disease,_type_I . . HOM Link to ClinVar
323395 338554 Benign Glycogen_storage_disease,_type_I . 0.60703 HOM Link to ClinVar
323396 344640 Benign Glycogen_storage_disease,_type_I . 0.65136 HOM Link to ClinVar
403353 390210 Benign not_specified . . . Link to ClinVar
209221 206179 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209226 206184 Benign Breast-ovarian_cancer,_familial_1 . 0.53774 HET Link to ClinVar
209227 206185 Benign Breast-ovarian_cancer,_familial_1 . 0.49141 HET Link to ClinVar
209228 206186 Benign Breast-ovarian_cancer,_familial_1 . 0.34225 HET Link to ClinVar
209230 206188 Benign Breast-ovarian_cancer,_familial_1 . 0.34245 HET Link to ClinVar
209231 206189 Benign Breast-ovarian_cancer,_familial_1 . 0.34225 HET Link to ClinVar
132777 136525 Benign Hereditary_breast_and_ovarian_cancer_syndrome
Breast-ovarian_cancer,_familial_1
not_specified		 0.44485 0.34225 HET Link to ClinVar
209234 206192 Benign Hereditary_breast_and_ovarian_cancer_syndrome
Breast-ovarian_cancer,_familial_1
not_specified		 0.44647 0.32448 HET Link to ClinVar
209238 206196 Benign Breast-ovarian_cancer,_familial_1 . 0.34245 HET Link to ClinVar
209243 206201 Benign Breast-ovarian_cancer,_familial_1 . 0.53395 HET Link to ClinVar
209244 206202 Benign Breast-ovarian_cancer,_familial_1 . 0.34265 HET Link to ClinVar
209247 206205 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
491153 485074 Likely_benign Hereditary_cancer-predisposing_syndrome . . HET Link to ClinVar
209252 206210 Benign Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1		 . 0.32508 HET Link to ClinVar
209256 206214 Benign Breast-ovarian_cancer,_familial_1 . 0.53774 HET Link to ClinVar
209259 206217 Benign Breast-ovarian_cancer,_familial_1 . 0.34285 HET Link to ClinVar
209260 206218 Benign Breast-ovarian_cancer,_familial_1 . 0.34285 HET Link to ClinVar
209266 206224 Benign Breast-ovarian_cancer,_familial_1 . 0.34285 HET Link to ClinVar
209267 206225 Benign Breast-ovarian_cancer,_familial_1 . 0.34265 HET Link to ClinVar
209277 206235 Benign Breast-ovarian_cancer,_familial_1 . 0.34265 HET Link to ClinVar
209278 206236 Benign Breast-ovarian_cancer,_familial_1 . 0.49022 HET Link to ClinVar
209279 206237 Benign Breast-ovarian_cancer,_familial_1 . 0.34285 HET Link to ClinVar
209291 206249 Benign Breast-ovarian_cancer,_familial_1 . 0.34265 HET Link to ClinVar
209296 206254 Benign Breast-ovarian_cancer,_familial_1 . 0.45927 HET Link to ClinVar
209301 206259 Benign Breast-ovarian_cancer,_familial_1 . 0.32488 HET Link to ClinVar
209303 206261 Benign Breast-ovarian_cancer,_familial_1 . 0.32488 HET Link to ClinVar
209305 206263 Benign Breast-ovarian_cancer,_familial_1 . 0.34265 HET Link to ClinVar
209306 206264 Benign Breast-ovarian_cancer,_familial_1 . 0.34245 HET Link to ClinVar
209308 206266 Benign Breast-ovarian_cancer,_familial_1 . 0.48962 HET Link to ClinVar
209313 206271 Benign Breast-ovarian_cancer,_familial_1 . 0.32428 HET Link to ClinVar
209314 206272 Benign Breast-ovarian_cancer,_familial_1 . 0.34205 HET Link to ClinVar
209317 206275 Benign Breast-ovarian_cancer,_familial_1 . 0.32428 HET Link to ClinVar
209318 206276 Benign Breast-ovarian_cancer,_familial_1 . 0.32428 HET Link to ClinVar
209320 206278 Benign Breast-ovarian_cancer,_familial_1 . 0.32648 HET Link to ClinVar
55428 70095 Benign Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified		 . 0.34245 HET Link to ClinVar
209322 206280 Benign Breast-ovarian_cancer,_familial_1 . 0.29094 HET Link to ClinVar
209327 206285 Benign Breast-ovarian_cancer,_familial_1 . 0.33966 HET Link to ClinVar
209335 206293 Benign Breast-ovarian_cancer,_familial_1 . 0.33586 HET Link to ClinVar
209336 206294 Benign Breast-ovarian_cancer,_familial_1 . 0.35363 HET Link to ClinVar
209340 206298 Benign Breast-ovarian_cancer,_familial_1 . 0.33586 HET Link to ClinVar
127127 132630 Benign Familial_cancer_of_breast
Breast-ovarian_cancer,_familial_1		 . 0.2528 HET Link to ClinVar
127126 132629 Benign Familial_cancer_of_breast
Breast-ovarian_cancer,_familial_1
not_specified		 . 0.30691 HET Link to ClinVar
125746 131284 Benign Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified		 . 0.35463 HET Link to ClinVar
125749 131287 Benign Breast-ovarian_cancer,_familial_1
not_specified		 . 0.35463 HET Link to ClinVar
209350 206308 Benign Breast-ovarian_cancer,_familial_1 . 0.35503 HET Link to ClinVar
209358 206316 Benign Breast-ovarian_cancer,_familial_1 . 0.35583 HET Link to ClinVar
209359 206317 Benign Breast-ovarian_cancer,_familial_1 . 0.33746 HET Link to ClinVar
41827 50266 Benign Breast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided		 . 0.35583 HET Link to ClinVar
264795 259558 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209363 206321 Benign Breast-ovarian_cancer,_familial_1 . 0.33646 HET Link to ClinVar
209371 206329 Benign Breast-ovarian_cancer,_familial_1 . 0.35483 HET Link to ClinVar
209374 206332 Benign Breast-ovarian_cancer,_familial_1
not_specified		 . 0.35344 HET Link to ClinVar
209375 206333 Benign Breast-ovarian_cancer,_familial_1
not_specified		 . 0.5024 HET Link to ClinVar
209376 206334 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209378 206336 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209382 206340 Benign Breast-ovarian_cancer,_familial_1 . 0.35383 HET Link to ClinVar
264844 259564 Benign Breast-ovarian_cancer,_familial_1 . 0.35363 HET Link to ClinVar
209384 206342 Benign Breast-ovarian_cancer,_familial_1 . . HOM Link to ClinVar
209385 206343 Benign Breast-ovarian_cancer,_familial_1 . 0.5026 HET Link to ClinVar
209386 206344 Benign Breast-ovarian_cancer,_familial_1 . 0.54892 HET Link to ClinVar
209387 206345 Benign Breast-ovarian_cancer,_familial_1 . 0.54812 HET Link to ClinVar
264827 259566 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209389 206347 Benign Breast-ovarian_cancer,_familial_1 . 0.33486 HET Link to ClinVar
209390 206348 Benign Breast-ovarian_cancer,_familial_1 . 0.33486 HET Link to ClinVar
209391 206349 Benign Breast-ovarian_cancer,_familial_1 . 0.33486 HET Link to ClinVar
209392 206350 Benign Breast-ovarian_cancer,_familial_1 . 0.253 HET Link to ClinVar
209393 206351 Benign Breast-ovarian_cancer,_familial_1 . 0.5024 HET Link to ClinVar
209396 206354 Benign Breast-ovarian_cancer,_familial_1 . 0.503 HET Link to ClinVar
209398 206356 Benign Breast-ovarian_cancer,_familial_1 . 0.33546 HET Link to ClinVar
209399 206357 Benign Breast-ovarian_cancer,_familial_1 . 0.35344 HET Link to ClinVar
209401 206359 Benign Breast-ovarian_cancer,_familial_1 . 0.33486 HET Link to ClinVar
209929 206361 Benign Breast-ovarian_cancer,_familial_1 . 0.98023 HOM Link to ClinVar
209404 206363 Benign Breast-ovarian_cancer,_familial_1 . 0.14397 HET Link to ClinVar
125703 131241 Benign Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided		 0.3431 0.33626 HET Link to ClinVar
209413 206372 Benign Breast-ovarian_cancer,_familial_1 . 0.58546 HET Link to ClinVar
209420 206379 Benign Breast-ovarian_cancer,_familial_1 . 0.35264 HET Link to ClinVar
209424 206383 Benign Breast-ovarian_cancer,_familial_1 . 0.33806 HET Link to ClinVar
209425 206384 Benign Breast-ovarian_cancer,_familial_1 . 0.35363 HET Link to ClinVar
209426 206385 Benign Breast-ovarian_cancer,_familial_1 . 0.35363 HET Link to ClinVar
264847 259575 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209427 206386 Benign Breast-ovarian_cancer,_familial_1 . 0.17033 HET Link to ClinVar
209432 206391 Benign Breast-ovarian_cancer,_familial_1 . 0.35344 HET Link to ClinVar
209433 206392 Benign Breast-ovarian_cancer,_familial_1 . 0.35344 HET Link to ClinVar
209435 206394 Benign Breast-ovarian_cancer,_familial_1 . 0.31969 HET Link to ClinVar
209436 206395 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209439 206398 Benign Breast-ovarian_cancer,_familial_1 . 0.35264 HET Link to ClinVar
125674 131212 Benign Familial_cancer_of_breast
Breast-ovarian_cancer,_familial_1
not_specified		 . 0.5024 HET Link to ClinVar
41818 50257 Benign Breast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided		 0.34901 0.35264 HET Link to ClinVar
41815 50254 Benign Breast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
Pancreatic_cancer_4
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_S
not_specified
not_provided		 0.34287 0.33566 HET Link to ClinVar
41812 50251 Benign Breast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided		 0.41005 0.54393 HET Link to ClinVar
125554 131092 Benign Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
Pancreatic_cancer_4
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_S
not_specified
not_provided		 0.34196 0.33526 HET Link to ClinVar
125536 131074 Benign Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided		 0.34827 0.33646 HET Link to ClinVar
127125 132628 Benign Familial_cancer_of_breast
Breast-ovarian_cancer,_familial_1		 . . HET Link to ClinVar
209447 206406 Benign Breast-ovarian_cancer,_familial_1 . . HOM Link to ClinVar
209449 206408 Benign Breast-ovarian_cancer,_familial_1 . 0.33506 HET Link to ClinVar
209450 206409 Benign Breast-ovarian_cancer,_familial_1 . 0.33486 HET Link to ClinVar
209451 206410 Benign Breast-ovarian_cancer,_familial_1 . 0.35264 HET Link to ClinVar
125889 131427 Benign Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified		 . . HET Link to ClinVar
209458 206417 Benign Breast-ovarian_cancer,_familial_1 . 0.35264 HET Link to ClinVar
209460 206419 Benign Breast-ovarian_cancer,_familial_1 . 0.54812 HET Link to ClinVar
209463 206422 Benign Breast-ovarian_cancer,_familial_1 . 0.33586 HET Link to ClinVar
125879 131417 Benign Breast-ovarian_cancer,_familial_1 . 0.35264 HET Link to ClinVar
209478 206437 Benign Breast-ovarian_cancer,_familial_1 . 0.35344 HET Link to ClinVar
264778 259589 Benign Breast-ovarian_cancer,_familial_1 . 0.35344 HET Link to ClinVar
209479 206438 Benign Breast-ovarian_cancer,_familial_1 . 0.54812 HET Link to ClinVar
264845 259592 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209483 206442 Benign Breast-ovarian_cancer,_familial_1 . 0.33526 HET Link to ClinVar
209484 206443 Benign Breast-ovarian_cancer,_familial_1 . 0.35324 HET Link to ClinVar
225705 227569 Benign Breast-ovarian_cancer,_familial_1
not_specified		 . . HET Link to ClinVar
125614 131152 Benign Breast-ovarian_cancer,_familial_1
not_specified		 . 0.54852 HET Link to ClinVar
209489 206448 Benign Breast-ovarian_cancer,_familial_1 . 0.33586 HET Link to ClinVar
209491 206450 Benign Breast-ovarian_cancer,_familial_1 . 0.35304 HET Link to ClinVar
209494 206453 Benign Breast-ovarian_cancer,_familial_1 . 0.35304 HET Link to ClinVar
209499 206458 Benign Breast-ovarian_cancer,_familial_1 . 0.35304 HET Link to ClinVar
264813 259598 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209503 206462 Benign Breast-ovarian_cancer,_familial_1 . 0.35344 HET Link to ClinVar
209512 206471 Benign Breast-ovarian_cancer,_familial_1 . 0.35224 HET Link to ClinVar
209516 206475 Benign Breast-ovarian_cancer,_familial_1 . 0.35703 HET Link to ClinVar
209519 206478 Benign Breast-ovarian_cancer,_familial_1 . 0.33447 HET Link to ClinVar
209521 206480 Benign Breast-ovarian_cancer,_familial_1 . 0.33447 HET Link to ClinVar
209524 206483 Benign Breast-ovarian_cancer,_familial_1 . 0.35304 HET Link to ClinVar
209531 206490 Benign Breast-ovarian_cancer,_familial_1 . 0.35423 HET Link to ClinVar
209537 206496 Benign Breast-ovarian_cancer,_familial_1 . 0.35304 HET Link to ClinVar
264808 259612 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209545 206504 Benign Breast-ovarian_cancer,_familial_1 . 0.35304 HET Link to ClinVar
209547 206506 Benign Breast-ovarian_cancer,_familial_1 . 0.33546 HET Link to ClinVar
209551 206510 Benign Breast-ovarian_cancer,_familial_1 . 0.35264 HET Link to ClinVar
209552 206511 Benign Breast-ovarian_cancer,_familial_1 . 0.33506 HET Link to ClinVar
209559 206518 Benign Breast-ovarian_cancer,_familial_1 . 0.35304 HET Link to ClinVar
209561 206520 Benign Breast-ovarian_cancer,_familial_1 . 0.54453 HET Link to ClinVar
209562 206521 Benign Breast-ovarian_cancer,_familial_1 . 0.33526 HET Link to ClinVar
209564 206523 Benign Breast-ovarian_cancer,_familial_1 . 0.35304 HET Link to ClinVar
209565 206524 Benign Breast-ovarian_cancer,_familial_1 . 0.35363 HET Link to ClinVar
209568 206526 Benign Breast-ovarian_cancer,_familial_1 . 0.54273 HET Link to ClinVar
209569 206528 Benign Breast-ovarian_cancer,_familial_1 . . HET Link to ClinVar
209570 206529 Benign Breast-ovarian_cancer,_familial_1 . 0.33506 HET Link to ClinVar
209571 206530 Benign Breast-ovarian_cancer,_familial_1 . 0.35363 HET Link to ClinVar
125468 131006 Benign Breast-ovarian_cancer,_familial_1
not_specified		 . 0.35363 HET Link to ClinVar
209574 206533 Benign Breast-ovarian_cancer,_familial_1 . 0.35363 HET Link to ClinVar
189123 186980 Benign Breast-ovarian_cancer,_familial_1
not_specified		 0.48053 0.54513 HET Link to ClinVar
209582 206541 Benign Breast-ovarian_cancer,_familial_1 . 0.50319 HET Link to ClinVar
209583 206542 Benign Breast-ovarian_cancer,_familial_1 . 0.35403 HET Link to ClinVar
209587 206546 Benign Breast-ovarian_cancer,_familial_1 . 0.50319 HET Link to ClinVar
209589 206548 Benign Breast-ovarian_cancer,_familial_1 . 0.35423 HET Link to ClinVar
209592 206551 Benign Breast-ovarian_cancer,_familial_1 . 0.54932 HET Link to ClinVar
209593 206552 Benign Breast-ovarian_cancer,_familial_1 . 0.35783 HET Link to ClinVar
209594 206553 Benign Breast-ovarian_cancer,_familial_1 . 0.33586 HET Link to ClinVar
209595 206554 Benign Breast-ovarian_cancer,_familial_1 . 0.35363 HET Link to ClinVar
323430 338589 Benign Sclerosing_Bone_Dysplasias . 0.5 HOM Link to ClinVar
768890 704166 Benign not_provided . . HOM Link to ClinVar
262687 256179 Benign Hyperammonemia,_type_III
not_specified		 0.31936 0.1885 HET Link to ClinVar
680677 669024 Benign not_provided . . HOM Link to ClinVar
262688 256180 Benign Hyperammonemia,_type_III
not_specified
not_provided		 0.94322 0.96026 HOM Link to ClinVar
680676 668862 Benign not_provided . . HOM Link to ClinVar
262686 256181 Benign Hyperammonemia,_type_III
not_specified
not_provided		 0.56597 0.47564 HET Link to ClinVar
323452 344676 Benign Hyperammonemia,_type_III . 0.89477 HOM Link to ClinVar
323459 344691 Benign Severe_congenital_neutropenia 0.56696 0.32308 HET Link to ClinVar
262366 256183 Benign Severe_congenital_neutropenia
not_specified		 0.17677 0.26997 HET Link to ClinVar
323481 344706 Likely_benign Hemolytic_anemia
Distal_Renal_Tubular_Acidosis,_Dominant
Spherocytosis,_Dominant		 . 0.53634 HET Link to ClinVar
323498 344720 Likely_benign Hemolytic_anemia
Distal_Renal_Tubular_Acidosis,_Dominant
Spherocytosis,_Dominant		 . 0.44649 HET Link to ClinVar
803426 791780 Benign Frontotemporal_dementia,_ubiquitin-positive . . HET Link to ClinVar
558917 549747 Benign not_provided 0.28269 0.35144 HET Link to ClinVar
128973 134420 Benign Growth_and_mental_retardation,_mandibulofacial_dysostosis,_microcephaly,_and_cleft_palate
not_specified		 0.17427 0.17053 HET Link to ClinVar
128972 134419 Benign Growth_and_mental_retardation,_mandibulofacial_dysostosis,_microcephaly,_and_cleft_palate
not_specified		 0.56925 0.5605 HET Link to ClinVar
369146 353375 Likely_benign Primary_ciliary_dyskinesia . 0.27696 HET Link to ClinVar
66508 77405 Benign Alexander_Disease
not_provided		 0.1163 0.14078 HET Link to ClinVar
66426 77323 not_provided not_provided . 0.40835 HET Link to ClinVar
98197 104089 Benign Frontotemporal_dementia
not_specified
not_provided		 0.04127 0.02776 HET Link to ClinVar
98211 104103 Benign/Likely_benign Frontotemporal_dementia
not_specified
MAPT-Related_Spectrum_Disorders
not_provided		 0.03595 0.03295 HET Link to ClinVar
323687 328833 Benign Syndromic_intellectual_disability
MAPT-Related_Spectrum_Disorders		 . 0.20248 HET Link to ClinVar
323727 344915 Benign Syndromic_intellectual_disability
MAPT-Related_Spectrum_Disorders		 . 0.61402 HET Link to ClinVar
323764 346272 Benign Koolen-de_Vries_syndrome
Syndromic_intellectual_disability
MAPT-Related_Spectrum_Disorders
not_provided		 0.3775 0.3129 HET Link to ClinVar
682029 669322 Benign not_provided . . HET Link to ClinVar
803431 791785 Benign Koolen-de_Vries_syndrome . . HOM Link to ClinVar
369215 353444 Benign Syndromic_intellectual_disability . 0.31869 HET Link to ClinVar
137487 141190 Benign Progressive_myoclonic_epilepsy
not_specified		 0.3961 0.3732 HET Link to ClinVar
193275 190439 Benign Progressive_myoclonic_epilepsy
Epilepsy,_progressive_myoclonic_6
not_specified		 . 0.95367 HOM Link to ClinVar
668838 668034 Benign not_provided . . HET Link to ClinVar
683278 668035 Benign not_provided . . HOM Link to ClinVar
668839 668880 Benign not_provided . . HOM Link to ClinVar
681357 669375 Benign not_provided . . HOM Link to ClinVar
323828 346313 Likely_benign Progressive_myoclonic_epilepsy . . HET Link to ClinVar
323830 338937 Benign Progressive_myoclonic_epilepsy . 0.9363 HOM Link to ClinVar
323837 338951 Benign Progressive_myoclonic_epilepsy . 0.375 HET Link to ClinVar
323846 328952 Benign Progressive_myoclonic_epilepsy . 0.41134 HET Link to ClinVar
323855 346341 Likely_benign Progressive_myoclonic_epilepsy . 0.07468 HET Link to ClinVar
13558 28597 Benign/Likely_benign PL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM
Myocardial_infarction
Glanzmann_thrombasthenia
not_specified		 0.12354 0.08886 HET Link to ClinVar
255541 256225 Benign Glanzmann_thrombasthenia
not_specified		 0.10286 0.14397 HET Link to ClinVar
255535 256226 Benign Glanzmann_thrombasthenia
not_specified
not_provided		 . 0.43111 HOM Link to ClinVar
255536 256227 Benign Glanzmann_thrombasthenia
not_specified		 0.28714 0.28734 HET Link to ClinVar
255537 256228 Benign Glanzmann_thrombasthenia
not_specified		 0.2873 0.28734 HET Link to ClinVar
255538 256229 Benign not_specified 0.09057 0.12041 HET Link to ClinVar
323884 346348 Likely_benign Glanzmann_thrombasthenia . 0.02356 HET Link to ClinVar
323887 346364 Likely_benign Glanzmann_thrombasthenia . 0.1232 HET Link to ClinVar
323891 346367 Benign Glanzmann_thrombasthenia . 0.72344 HET Link to ClinVar
667952 669086 Likely_benign not_provided . . HET Link to ClinVar
667950 669090 Benign not_provided . . HOM Link to ClinVar
670594 669091 Benign not_provided . . HOM Link to ClinVar
323918 345064 Benign Pyridoxal_5'-phosphate-dependent_epilepsy . 0.42552 HOM Link to ClinVar
323927 339061 Benign Pyridoxal_5'-phosphate-dependent_epilepsy . 0.6877 HOM Link to ClinVar
323940 345069 Benign Pyridoxal_5'-phosphate-dependent_epilepsy . 0.80791 HOM Link to ClinVar
768894 704194 Benign not_provided . . HET Link to ClinVar
324008 346473 Likely_benign Amelogenesis_Imperfecta,_Dominant . . HET Link to ClinVar
324013 329082 Benign Amelogenesis_Imperfecta,_Dominant . 0.65336 HET Link to ClinVar
518262 508887 Benign Interstitial_lung_disease,_nephrotic_syndrome,_and_epidermolysis_bullosa,_congenital 0.8553 0.76278 HOM Link to ClinVar
254719 256266 Benign/Likely_benign not_specified
not_provided		 0.05445 0.02835 HET Link to ClinVar
669838 668060 Benign not_provided . . HOM Link to ClinVar
684353 669391 Benign not_provided . . HET Link to ClinVar
669840 669395 Benign not_provided . . HET Link to ClinVar
254718 256269 Benign not_specified
not_provided		 . 0.1224 HET Link to ClinVar
670060 668895 Benign not_provided . . HET Link to ClinVar
669841 669396 Benign not_provided . . HET Link to ClinVar
670061 669400 Benign not_provided . . HET Link to ClinVar
670546 669104 Benign not_provided . . HET Link to ClinVar
669842 668904 Benign not_provided . . HOM Link to ClinVar
324072 339244 Likely_benign Infantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
Osteogenesis_Imperfecta,_Dominant		 . 0.13119 HET Link to ClinVar
324076 329121 Likely_benign Infantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
Osteogenesis_Imperfecta,_Dominant		 . . HET Link to ClinVar
324093 345156 Likely_benign Infantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
Osteogenesis_Imperfecta,_Dominant		 . 0.37859 HET Link to ClinVar
197918 195079 Benign/Likely_benign Infantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
not_specified
Osteogenesis_Imperfecta,_Dominant		 0.5828 0.48502 HET Link to ClinVar
674808 669404 Benign not_provided . . HET Link to ClinVar
285362 269599 Benign not_specified 0.98479 0.97883 HOM Link to ClinVar
674807 668911 Benign not_provided . . HOM Link to ClinVar
254948 256272 Benign not_specified . 0.54133 HET Link to ClinVar
254947 256273 Benign/Likely_benign Infantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
not_specified
Osteogenesis_Imperfecta,_Dominant		 0.99984 0.9998 HOM Link to ClinVar
674806 668913 Benign not_provided . . HOM Link to ClinVar
674805 669413 Benign not_provided . . HET Link to ClinVar
674804 669418 Benign not_provided . . HET Link to ClinVar
674803 669424 Benign not_specified
not_provided		 . . HET Link to ClinVar
674802 669115 Benign not_provided . . HET Link to ClinVar
674978 669430 Benign not_provided . . HET Link to ClinVar
674801 669118 Benign not_provided . . HET Link to ClinVar
674977 668099 Benign not_provided . . HOM Link to ClinVar
674976 669438 Benign not_provided . . HOM Link to ClinVar
683350 668928 Benign not_provided . . HOM Link to ClinVar
683343 669441 Benign not_provided . . HOM Link to ClinVar
254949 256277 Benign not_specified 0.61874 0.51817 HOM Link to ClinVar
2533 17572 Benign Pseudoxanthoma_elasticum,_modifier_of_severity_of
Spondyloocular_syndrome,_autosomal_recessive		 . 0.251 HET Link to ClinVar
377617 378501 Benign not_specified 0.55542 0.52396 HET Link to ClinVar
259116 256279 Benign not_specified . 0.69828 HOM Link to ClinVar
403102 390232 Benign not_specified . 0.14976 HET Link to ClinVar
403385 390363 Benign not_specified 0.4048 0.3738 HET Link to ClinVar
324173 345189 Likely_benign Fanconi_anemia
Breast_and_Ovarian_Cancer_Susceptibility		 0.17967 0.15835 HET Link to ClinVar
324219 329200 Benign Mulibrey_nanism_syndrome . 0.61182 HOM Link to ClinVar
369217 353446 Benign Mulibrey_nanism_syndrome . . HET Link to ClinVar
324241 339409 Benign Ischiopatellar_dysplasia 0.23444 0.18011 HET Link to ClinVar
324249 346635 Benign Ischiopatellar_dysplasia
not_specified		 0.18756 0.20268 HET Link to ClinVar
261035 256297 Benign Ischiopatellar_dysplasia
not_specified		 0.14545 0.21326 HET Link to ClinVar
324262 345229 Benign Ischiopatellar_dysplasia 0.10193 0.11562 HET Link to ClinVar
324280 345251 Benign Ischiopatellar_dysplasia . 0.08247 HET Link to ClinVar
324284 329230 Benign Ischiopatellar_dysplasia . 0.32308 HET Link to ClinVar
324292 346660 Likely_benign Neoplasm_of_the_breast
Fanconi_anemia		 . 0.76218 HOM Link to ClinVar
324294 345269 Likely_benign Neoplasm_of_the_breast
Fanconi_anemia		 . 0.34225 HET Link to ClinVar
324321 329244 Likely_benign Neoplasm_of_the_breast
Fanconi_anemia		 . 0.11961 HET Link to ClinVar
210533 208407 Likely_benign Neoplasm_of_the_breast
Fanconi_anemia
not_specified		 . 0.39217 HET Link to ClinVar
324322 339477 Likely_benign Neoplasm_of_the_breast
Fanconi_anemia		 . 0.38798 HET Link to ClinVar
324335 329258 Likely_benign Neoplasm_of_the_breast
Fanconi_anemia		 . 0.626 HET Link to ClinVar
324344 339494 Likely_benign Neoplasm_of_the_breast
Fanconi_anemia		 . 0.62181 HET Link to ClinVar
183702 185195 Benign/Likely_benign Neoplasm_of_the_breast
Neoplasm_of_ovary
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
not_provided		 0.59412 0.62081 HET Link to ClinVar
133756 137495 Benign/Likely_benign Neoplasm_of_the_breast
Neoplasm_of_ovary
Familial_cancer_of_breast
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
not_provided		 0.59722 0.6278 HET Link to ClinVar
183703 185227 Benign/Likely_benign Neoplasm_of_the_breast
Neoplasm_of_ovary
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
not_provided		 0.71879 0.8151 HOM Link to ClinVar
679668 669160 Benign not_provided . . HOM Link to ClinVar
262005 256299 Benign not_specified . 0.78974 HOM Link to ClinVar
256799 256305 Benign Renal_dysplasia
not_specified		 0.44916 0.42352 HET Link to ClinVar
256800 256306 Benign Renal_dysplasia
not_specified		 0.49989 0.52955 HET Link to ClinVar
256802 256307 Benign not_specified 0.49965 0.52995 HET Link to ClinVar
256801 256308 Benign Renal_dysplasia
not_specified		 0.49958 0.52995 HET Link to ClinVar
256803 256309 Benign Renal_dysplasia
not_specified		 0.53726 0.64317 HET Link to ClinVar
256804 256310 Benign Renal_dysplasia
not_specified		 0.52334 0.58746 HET Link to ClinVar
256806 256312 Benign Renal_dysplasia
not_specified		 0.55618 0.58187 HET Link to ClinVar
324435 339581 Benign Renal_dysplasia . . HET Link to ClinVar
324438 329331 Benign Renal_dysplasia . 0.65795 HET Link to ClinVar
369220 353449 Likely_benign Isolated_growth_hormone_deficiency . 0.36342 HET Link to ClinVar
402520 390202 Benign not_specified 0.59517 0.5617 HET Link to ClinVar
324474 339623 Benign Paramyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Potassium_aggravated_myotonia
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis		 . . HET Link to ClinVar
324479 346754 Benign Paramyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Potassium_aggravated_myotonia
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis		 . . HET Link to ClinVar
324494 339637 Benign Paramyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Potassium_aggravated_myotonia
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis		 . 0.59605 HET Link to ClinVar
92863 98770 Benign Paramyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Hypokalemic_periodic_paralysis,_type_2
Potassium_aggravated_myotonia
Congenital_myasthenic_syndrome,_acetazolamide-responsive
Hyperkalemic_Periodic_Paralysis_Type_1
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis		 0.16388 0.14018 HET Link to ClinVar
130236 135683 Benign Paramyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Hypokalemic_periodic_paralysis,_type_2
Potassium_aggravated_myotonia
Congenital_myasthenic_syndrome,_acetazolamide-responsive
Hyperkalemic_Periodic_Paralysis_Type_1
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis		 0.52369 0.5615 HET Link to ClinVar
669357 669201 Benign not_provided . . HET Link to ClinVar
684260 669463 Benign not_provided . . HET Link to ClinVar
669356 668966 Benign not_provided . . HET Link to ClinVar
669355 668157 Benign not_provided . . HET Link to ClinVar
669353 668161 Benign not_provided . . HET Link to ClinVar
167652 178051 Benign Paramyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Potassium_aggravated_myotonia
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis		 0.31555 0.25439 HET Link to ClinVar
130228 135675 Benign Paramyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Hypokalemic_periodic_paralysis,_type_2
Potassium_aggravated_myotonia
Congenital_myasthenic_syndrome,_acetazolamide-responsive
Hyperkalemic_Periodic_Paralysis_Type_1
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis		 0.92884 0.94429 HOM Link to ClinVar
669352 668184 Benign not_provided . . HOM Link to ClinVar
684257 668195 Benign not_provided . . HOM Link to ClinVar
669351 668198 Benign not_provided . . HOM Link to ClinVar
255843 256326 Benign not_specified
not_provided		 0.88428 0.80831 HOM Link to ClinVar
669349 668987 Benign not_provided . . HOM Link to ClinVar
684254 668991 Benign not_provided . . HOM Link to ClinVar
684253 669478 Benign not_provided . . HOM Link to ClinVar
669348 668204 Benign not_provided . . HOM Link to ClinVar
255856 256334 Benign not_specified
not_provided		 0.98776 0.99481 HOM Link to ClinVar
671347 669482 Benign not_provided . . HET Link to ClinVar
671344 669485 Benign not_provided . . HET Link to ClinVar
667974 669214 Benign not_provided . . HET Link to ClinVar
324630 345576 Benign Oligodontia-colorectal_cancer_syndrome . 0.42173 HET Link to ClinVar
324633 339829 Benign Oligodontia-colorectal_cancer_syndrome . 0.08327 HET Link to ClinVar
679667 668215 Benign not_provided . . HOM Link to ClinVar
259512 256352 Benign not_specified
not_provided		 0.12186 0.17412 HET Link to ClinVar
259510 256353 Benign Carcinoma_of_colon
Oligodontia-colorectal_cancer_syndrome
not_specified
not_provided		 0.62364 0.44609 HET Link to ClinVar
259509 256354 Benign Oligodontia-colorectal_cancer_syndrome
not_specified
not_provided		 0.9144 0.90974 HOM Link to ClinVar
496274 488007 Benign not_provided 0.11876 0.16414 HET Link to ClinVar
16042 31081 Benign APOH_POLYMORPHISM . 0.54153 HET Link to ClinVar
260831 256360 Benign not_specified . 0.16953 HET Link to ClinVar
517056 506140 Benign not_specified . 0.81849 HOM Link to ClinVar
324854 346989 Benign Andersen_Tawil_syndrome
short_QT_syndrome
Familial_atrial_fibrillation		 . 0.58087 HET Link to ClinVar
667624 668254 Benign not_provided . . HET Link to ClinVar
21164 34016 Benign Camptomelic_dysplasia
not_specified
not_provided		 0.19328 0.13658 HET Link to ClinVar
667625 669563 Benign not_provided . . HET Link to ClinVar
324922 339974 Benign Camptomelic_dysplasia 0.40114 0.35443 HET Link to ClinVar
324931 347054 Benign Camptomelic_dysplasia . 0.5611 HET Link to ClinVar
324944 347097 Benign Camptomelic_dysplasia . 0.32109 HET Link to ClinVar
324949 339992 Benign Camptomelic_dysplasia . . HET Link to ClinVar
324951 345723 Benign Congenital_disorder_of_glycosylation 0.52769 0.52596 HOM Link to ClinVar
95917 101813 Benign Congenital_disorder_of_glycosylation
not_specified
not_provided		 0.4969 0.44948 HOM Link to ClinVar
95919 101815 Benign Congenital_disorder_of_glycosylation
not_specified
not_provided		 0.50134 0.45128 HOM Link to ClinVar
95911 101807 Benign Congenital_disorder_of_glycosylation
not_specified
not_provided		 0.52312 0.52097 HOM Link to ClinVar
95914 101810 Benign Congenital_disorder_of_glycosylation
not_specified		 . 0.52536 HOM Link to ClinVar
95916 101812 Benign not_specified 0.94419 0.86362 HOM Link to ClinVar
325000 345743 Benign Primary_ciliary_dyskinesia . 0.38299 HOM Link to ClinVar
325001 340046 Benign Primary_ciliary_dyskinesia . 0.63179 HOM Link to ClinVar
261648 256376 Benign not_specified 0.98746 0.96146 HOM Link to ClinVar
261640 256389 Likely_benign not_specified . . HOM Link to ClinVar
163171 176498 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_9
not_specified
not_provided		 0.85806 0.74082 HOM Link to ClinVar
261645 256394 Benign not_specified 0.85683 0.72264 HOM Link to ClinVar
261646 256395 Benign not_specified 0.91538 0.84066 HOM Link to ClinVar
325040 329799 Likely_benign Retinitis_pigmentosa-deafness_syndrome . 0.21366 HET Link to ClinVar
379995 376658 Benign not_specified 0.79585 0.65735 HOM Link to ClinVar
325062 345823 Likely_benign Amish_lethal_microcephaly . 0.53654 HOM Link to ClinVar
130327 135774 Benign/Likely_benign Amish_lethal_microcephaly
not_specified
not_provided		 0.92898 0.90016 HOM Link to ClinVar
130333 135780 Benign/Likely_benign Amish_lethal_microcephaly
not_specified
not_provided		 0.65168 0.53015 HOM Link to ClinVar
130330 135777 Benign/Likely_benign Amish_lethal_microcephaly
not_specified
not_provided		 0.96167 0.88958 HOM Link to ClinVar
325069 347217 Likely_benign Amish_lethal_microcephaly . 0.86122 HOM Link to ClinVar
96673 102566 Benign Pontoneocerebellar_hypoplasia
not_specified
not_provided		 . 0.54373 HOM Link to ClinVar
160133 169401 Benign not_specified 0.70737 0.45527 HOM Link to ClinVar
160123 169409 Benign Pontoneocerebellar_hypoplasia
Pontocerebellar_hypoplasia_type_4
not_specified
not_provided		 0.64141 0.44469 HOM Link to ClinVar
96670 102563 Benign Pontoneocerebellar_hypoplasia
not_specified
not_provided		 0.87172 0.8143 HOM Link to ClinVar
160127 169413 Benign Pontoneocerebellar_hypoplasia
not_specified
not_provided		 0.62413 0.5613 HOM Link to ClinVar
255542 256412 Benign Deficiency_of_galactokinase
Epidermolysis_bullosa_junctionalis_with_pyloric_atresia
not_specified		 . 0.3772 HOM Link to ClinVar
325232 347287 Conflicting_interpretations_of_pathogenicity Deficiency_of_galactokinase
not_provided		 0.00056 . HET Link to ClinVar
263240 256415 Benign Familial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_3
not_specified		 0.48439 0.52616 HET Link to ClinVar
263236 256419 Benign not_specified 0.1856 0.16414 HET Link to ClinVar
263228 256423 Benign Familial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_3
not_specified
not_provided		 0.36663 0.4994 HET Link to ClinVar
325255 345985 Conflicting_interpretations_of_pathogenicity Familial_hemophagocytic_lymphohistiocytosis
not_provided		 . . HET Link to ClinVar
263222 256429 Benign/Likely_benign Familial_hemophagocytic_lymphohistiocytosis
not_specified		 0.18974 0.15755 HET Link to ClinVar
263247 256440 Benign Familial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_3
not_specified		 . 0.49022 HET Link to ClinVar
263229 256449 Benign not_specified . 0.17712 HET Link to ClinVar
263214 256451 Benign Hemophagocytic_lymphohistiocytosis,_familial,_3
not_specified		 0.25246 0.27736 HET Link to ClinVar
325306 347341 Likely_benign Pseudoneonatal_adrenoleukodystrophy . . HET Link to ClinVar
325320 346044 Benign Pseudoneonatal_adrenoleukodystrophy 0.57609 0.45068 HET Link to ClinVar
325356 346060 Likely_benign Pseudoneonatal_adrenoleukodystrophy . 0.10963 HET Link to ClinVar
325361 346062 Benign Pseudoneonatal_adrenoleukodystrophy . 0.46985 HET Link to ClinVar
325365 347373 Likely_benign Pseudoneonatal_adrenoleukodystrophy . 0.02656 HET Link to ClinVar
259223 256459 Benign Pseudoneonatal_adrenoleukodystrophy
not_specified
not_provided		 0.64242 0.55072 HET Link to ClinVar
325408 346095 Likely_benign Howel-Evans_syndrome . 0.01897 HET Link to ClinVar
325455 347434 Benign Howel-Evans_syndrome 0.87865 0.76518 HOM Link to ClinVar
325469 340410 Benign Howel-Evans_syndrome 0.15246 0.14976 HET Link to ClinVar
325499 340449 Benign Retinitis_Pigmentosa,_Recessive 0.51753 0.47863 HOM Link to ClinVar
518264 508889 Benign Amyotrophy,_hereditary_neuralgic 0.88527 0.91873 HOM Link to ClinVar
518266 508891 Benign Amyotrophy,_hereditary_neuralgic 0.29724 0.29673 HET Link to ClinVar
325598 346243 Benign Hereditary_Neuralgic_Amyotrophy_(HNA) 0.03702 0.01078 HET Link to ClinVar
325614 330319 Benign Hereditary_Neuralgic_Amyotrophy_(HNA) . 0.43211 HET Link to ClinVar
403548 390263 Benign not_specified . 0.55232 HET Link to ClinVar
403547 390212 Benign not_specified 0.53433 0.54034 HET Link to ClinVar
403549 390381 Benign not_specified 0.58161 0.60184 HET Link to ClinVar
402672 390396 Benign not_specified 0.74464 0.68451 HOM Link to ClinVar
402674 390282 Benign not_specified 0.98509 0.95088 HOM Link to ClinVar
402676 390285 Benign not_specified 0.51737 0.46645 HET Link to ClinVar
402677 390401 Benign not_specified 0.73118 0.65016 HOM Link to ClinVar
402679 390269 Benign not_specified 0.27498 0.3756 HET Link to ClinVar
402680 390288 Benign not_specified 0.67117 0.64237 HET Link to ClinVar
402681 390405 Benign not_specified . 0.65435 HOM Link to ClinVar
402684 390294 Benign not_specified 0.31701 0.23782 HOM Link to ClinVar
402685 390408 Benign not_specified 0.86251 0.92971 HOM Link to ClinVar
402686 390418 Benign not_specified 0.68229 0.73882 HOM Link to ClinVar
402687 390419 Benign not_specified 0.8652 0.93091 HOM Link to ClinVar
402688 390220 Benign not_specified . 0.27935 HET Link to ClinVar
402689 390271 Benign not_specified . 0.08127 HET Link to ClinVar
402690 390223 Benign not_specified 0.57368 0.57847 HET Link to ClinVar
402692 390224 Benign not_specified 0.22338 0.14697 HET Link to ClinVar
402693 390305 Benign not_specified 0.15255 0.09245 HET Link to ClinVar
402694 390274 Benign not_specified 0.59035 0.59505 HOM Link to ClinVar
402695 390276 Benign not_specified 0.16571 0.1264 HET Link to ClinVar
402696 390422 Benign not_specified 0.51006 0.46066 HET Link to ClinVar
402697 390281 Benign not_specified 0.52359 0.45887 HET Link to ClinVar
402698 390287 Benign not_specified 0.52995 0.47424 HET Link to ClinVar
402699 390292 Benign not_specified . 0.73802 HOM Link to ClinVar
402700 390309 Benign not_specified 0.43551 0.34764 HET Link to ClinVar
402701 390424 Benign not_specified . 0.9401 HOM Link to ClinVar
166807 176025 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_15
not_specified
not_provided		 . 0.95727 HOM Link to ClinVar
162850 176509 Benign Primary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_15
not_specified
not_provided		 0.48872 0.46426 HOM Link to ClinVar
178711 176648 Benign Primary_ciliary_dyskinesia
Glycogen_storage_disease,_type_II
Ciliary_dyskinesia,_primary,_15
not_specified
not_provided		 . 0.71426 HOM Link to ClinVar
325769 346306 Likely_benign Primary_ciliary_dyskinesia
Glycogen_storage_disease,_type_II		 . 0.11801 HOM Link to ClinVar
4020 19059 Benign,_other Glycogen_storage_disease,_type_II
Acid_alpha-glucosidase,_allele_2
not_specified
not_provided		 . 0.01158 HET Link to ClinVar
92484 98393 Benign Primary_ciliary_dyskinesia
Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.73668 0.71446 HOM Link to ClinVar
680590 669114 Benign not_provided . . HOM Link to ClinVar
680260 669116 Benign not_provided . . HOM Link to ClinVar
680263 668277 Benign not_provided . . HOM Link to ClinVar
255363 256515 Benign not_specified 0.67576 0.60563 HOM Link to ClinVar
92485 98394 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.67586 0.60284 HOM Link to ClinVar
92486 98395 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.67455 0.60084 HOM Link to ClinVar
92488 98397 Benign/Likely_benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.67599 0.60244 HOM Link to ClinVar
680265 669594 Benign not_provided . . HOM Link to ClinVar
92489 98398 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 . . HOM Link to ClinVar
167111 177734 Benign not_specified 0.67407 0.60104 HOM Link to ClinVar
92491 98400 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.75026 0.60443 HOM Link to ClinVar
92461 98370 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.67844 0.60284 HOM Link to ClinVar
680591 669364 Benign not_provided . . HOM Link to ClinVar
680269 669366 Benign not_provided . . HOM Link to ClinVar
92462 98371 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.73124 0.71166 HOM Link to ClinVar
680270 669602 Benign not_provided . . HOM Link to ClinVar
92464 98373 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.67604 0.60304 HOM Link to ClinVar
255352 256521 Benign not_specified 0.67483 0.59924 HOM Link to ClinVar
92466 98375 Benign/Likely_benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.23091 0.15955 HOM Link to ClinVar
92470 98379 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.74408 0.71506 HOM Link to ClinVar
680592 669119 Benign not_provided . . HOM Link to ClinVar
92474 98383 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 0.75699 0.78934 HOM Link to ClinVar
680261 669122 Benign not_provided . . HOM Link to ClinVar
92476 98385 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 . 0.71186 HOM Link to ClinVar
92481 98390 Benign Glycogen_storage_disease,_type_II
not_specified
not_provided		 . 0.50939 HOM Link to ClinVar
495667 487921 Likely_benign not_provided 0.00344 0.002 HET Link to ClinVar
680272 669367 Benign not_provided . . HOM Link to ClinVar
325806 330474 Likely_benign Glycogen_storage_disease,_type_II . 0.15595 HOM Link to ClinVar
402484 390428 Benign not_specified 0.34806 0.30132 HOM Link to ClinVar
402485 390226 Benign not_specified . 0.37021 HET Link to ClinVar
325821 346328 Benign Sanfilippo_syndrome . 0.44828 HET Link to ClinVar
92610 98518 Benign Sanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-A
not_specified
not_provided		 0.35916 0.34585 HET Link to ClinVar
92612 98520 Benign Mucopolysaccharidosis,_MPS-III-A
not_specified
not_provided		 . 0.51418 HET Link to ClinVar
255515 256542 Benign not_specified
not_provided		 0.53559 0.55691 HET Link to ClinVar
44151 53319 Benign not_specified 0.28824 0.1853 HET Link to ClinVar
44150 53318 Benign not_specified 0.79022 0.75619 HOM Link to ClinVar
44147 53315 Benign not_specified 0.49892 0.55891 HET Link to ClinVar
325850 330578 Benign Retinitis_Pigmentosa,_Recessive 0.55598 0.66873 HET Link to ClinVar
325854 347773 Likely_benign Retinitis_Pigmentosa,_Recessive 0.09039 0.07009 HET Link to ClinVar
325857 346443 Likely_benign Retinitis_Pigmentosa,_Recessive 0.10024 0.07009 HET Link to ClinVar
325858 340825 Benign Retinitis_Pigmentosa,_Recessive 0.56256 0.66873 HET Link to ClinVar
325860 340827 Benign Retinitis_Pigmentosa,_Recessive 0.47475 0.58506 HET Link to ClinVar
669504 669126 Benign not_provided . . HET Link to ClinVar
768922 704472 Benign not_provided . . HOM Link to ClinVar
497969 489393 Benign not_specified 0.99508 0.98602 HOM Link to ClinVar
325923 346454 Uncertain_significance Cutis_laxa,_recessive . . HET Link to ClinVar
402932 390333 Benign not_specified . 0.48143 HET Link to ClinVar
375663 362508 drug_response capecitabine_response_-_Efficacy
fluorouracil_response_-_Efficacy		 . . HET Link to ClinVar
260633 256625 Benign not_specified 0.68571 0.58467 HOM Link to ClinVar
260637 256629 Benign not_specified 0.69393 0.6903 HOM Link to ClinVar
260640 256632 Benign not_specified
not_provided		 . 0.20627 HOM Link to ClinVar
260650 256639 Benign not_specified 0.37211 0.27576 HOM Link to ClinVar
260652 256641 Benign not_specified 0.99486 0.98043 HOM Link to ClinVar
326550 346757 Benign Majeed_syndrome . 0.54553 HOM Link to ClinVar
326612 331014 Benign Majeed_syndrome . 0.69129 HOM Link to ClinVar
260433 256646 Benign Majeed_syndrome
not_specified		 0.31306 0.36222 HET Link to ClinVar
668717 669699 Benign not_provided . . HET Link to ClinVar
676925 669708 Benign not_provided . . HET Link to ClinVar
439863 433667 Benign Majeed_syndrome . 0.41354 HET Link to ClinVar
676922 668327 Benign not_provided . . HET Link to ClinVar
226828 230806 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.5696 0.59445 HET Link to ClinVar
226826 230810 Benign not_specified 0.53987 0.6228 HET Link to ClinVar
226825 230812 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.2142 0.18351 HET Link to ClinVar
226821 230819 Benign not_specified 0.80922 0.80032 HOM Link to ClinVar
226819 230821 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.44224 0.34804 HET Link to ClinVar
226815 230838 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.19973 0.25439 HET Link to ClinVar
226796 230883 Benign not_specified
Cardiovascular_phenotype
not_provided		 . 0.75719 HOM Link to ClinVar
226830 230890 Benign not_specified
Cardiovascular_phenotype
not_provided		 0.43735 0.44329 HOM Link to ClinVar
674961 669466 Benign not_provided . . HET Link to ClinVar
403532 390317 Benign not_specified 0.32956 0.25559 HET Link to ClinVar
777265 704599 Benign not_provided . . HET Link to ClinVar
803471 791881 Benign Poretti-Boltshauser_syndrome . . HET Link to ClinVar
803472 791882 Benign Poretti-Boltshauser_syndrome . . HET Link to ClinVar
803473 791883 Benign Poretti-Boltshauser_syndrome . . HET Link to ClinVar
9054 24093 Benign Parkinson_disease,_mitochondrial
Mitochondrial_complex_I_deficiency
MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_7
not_specified
not_provided		 0.80008 0.77895 HET Link to ClinVar
678068 669645 Benign not_provided . . HET Link to ClinVar
129703 135149 Benign/Likely_benign Mitochondrial_complex_I_deficiency
MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_7
not_specified
not_provided		 0.08497 0.07508 HET Link to ClinVar
369253 353482 Likely_benign Mitochondrial_complex_I_deficiency . 0.07548 HET Link to ClinVar
261527 256560 Benign not_specified 0.34781 0.3143 HET Link to ClinVar
261526 256561 Benign not_specified 0.28453 0.20108 HET Link to ClinVar
261525 256562 Benign not_specified 0.29075 0.21925 HET Link to ClinVar
261510 256577 Benign not_specified 0.8004 0.84365 HOM Link to ClinVar
261509 256578 Benign not_specified . 0.64697 HOM Link to ClinVar
261508 256579 Benign not_specified 0.26542 0.33187 HOM Link to ClinVar
261507 256580 Benign not_specified 0.79616 0.82308 HOM Link to ClinVar
261505 256582 Benign not_specified 0.78496 0.77895 HOM Link to ClinVar
261504 256583 Benign not_specified 0.8011 0.83806 HOM Link to ClinVar
261503 256584 Benign not_specified 0.85376 0.86242 HOM Link to ClinVar
626331 614665 Benign Dystonia_25 0.0628 0.04393 HET Link to ClinVar
677942 669627 Benign not_provided . . HET Link to ClinVar
683211 669386 Benign not_provided . . HOM Link to ClinVar
128287 133736 Benign not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.74925 0.70986 HOM Link to ClinVar
128286 133735 Benign not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.72054 0.6232 HOM Link to ClinVar
683207 669388 Benign not_provided . . HOM Link to ClinVar
136312 140015 Benign not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.71767 0.61961 HOM Link to ClinVar
326126 346568 Benign Glucocorticoid_Deficiency . 0.5012 HOM Link to ClinVar
326145 340986 Benign Glucocorticoid_Deficiency . 0.52117 HOM Link to ClinVar
326174 346601 Benign Glucocorticoid_Deficiency . 0.50659 HOM Link to ClinVar
326175 330801 Benign Glucocorticoid_Deficiency . 0.34105 HOM Link to ClinVar
326188 346613 Benign Glucocorticoid_Deficiency . 0.21426 HOM Link to ClinVar
326189 346614 Benign Glucocorticoid_Deficiency . 0.50459 HOM Link to ClinVar
326194 341049 Conflicting_interpretations_of_pathogenicity Glucocorticoid_Deficiency
not_provided		 0.00073 . HET Link to ClinVar
678135 669668 Benign not_provided . . HOM Link to ClinVar
678067 669672 Benign not_provided . . HOM Link to ClinVar
404060 403233 Likely_benign not_provided . . HET Link to ClinVar
684037 669410 Benign not_provided . . HOM Link to ClinVar
684038 669414 Benign not_provided . . HOM Link to ClinVar
673936 669415 Benign not_provided . . HOM Link to ClinVar
669107 669685 Benign not_provided . . HOM Link to ClinVar
670487 669686 Benign not_provided . . HOM Link to ClinVar
684045 669693 Benign not_provided . . HOM Link to ClinVar
673333 669695 Benign not_provided . . HOM Link to ClinVar
558880 549772 Likely_benign not_provided . . HET Link to ClinVar
193982 191145 Benign/Likely_benign Niemann-Pick_disease_type_C1
not_specified		 . . HET Link to ClinVar
92701 98608 Benign Niemann-Pick_disease,_type_C
Niemann-Pick_disease_type_C1
not_specified
not_provided		 0.71772 0.83167 HET Link to ClinVar
129811 135257 Benign/Likely_benign Niemann-Pick_disease,_type_C
Niemann-Pick_disease_type_C1
not_specified
not_provided		 0.14444 0.10982 HET Link to ClinVar
326289 347983 Likely_benign Niemann-Pick_disease,_type_C . 0.09066 HET Link to ClinVar
403025 390339 Benign not_specified 0.66313 0.6244 HOM Link to ClinVar
403026 390344 Benign not_specified 0.49624 0.34365 HOM Link to ClinVar
403027 390346 Benign not_specified 0.49954 0.34066 HOM Link to ClinVar
285244 269481 Uncertain_significance Epidermolysis_bullosa,_junctional
Laryngoonychocutaneous_syndrome
not_provided		 0.0003 . HET Link to ClinVar
255576 256613 Benign Epidermolysis_bullosa,_junctional
Laryngoonychocutaneous_syndrome
not_specified		 0.99998 1 HOM Link to ClinVar
255577 256614 Benign Epidermolysis_bullosa,_junctional
Laryngoonychocutaneous_syndrome
not_specified		 . 0.94888 HOM Link to ClinVar
255579 256616 Likely_benign not_specified 0.53632 0.35963 HOM Link to ClinVar
255580 256617 Benign Epidermolysis_bullosa,_junctional
Laryngoonychocutaneous_syndrome
not_specified		 0.53773 0.35903 HOM Link to ClinVar
402800 390307 Benign not_specified 0.99998 1 HOM Link to ClinVar
672125 669745 Benign not_provided . . HOM Link to ClinVar
672124 668334 Benign not_provided . . HOM Link to ClinVar
683467 668344 Benign not_provided . . HET Link to ClinVar
683843 669755 Benign not_provided . . HET Link to ClinVar
672123 669220 Benign not_provided . . HET Link to ClinVar
683468 669434 Benign not_provided . . HET Link to ClinVar
672107 669225 Benign not_provided . . HET Link to ClinVar
671090 668367 Benign not_provided . . HET Link to ClinVar
402801 390348 Benign not_specified 0.43443 0.36262 HET Link to ClinVar
402802 390312 Benign not_specified 0.43435 0.32768 HET Link to ClinVar
326416 348146 Likely_benign Localized_AR_Hypotrichosis 0.14315 0.12161 HET Link to ClinVar
326418 346896 Benign Localized_AR_Hypotrichosis 0.74527 0.72065 HOM Link to ClinVar
326421 341369 Benign Localized_AR_Hypotrichosis 0.77427 0.80491 HOM Link to ClinVar
326441 331139 Benign Localized_AR_Hypotrichosis 0.92026 0.96586 HOM Link to ClinVar
326452 348172 Benign Localized_AR_Hypotrichosis 0.44302 0.39337 HET Link to ClinVar
326458 341405 Benign Localized_AR_Hypotrichosis 0.72391 0.74321 HOM Link to ClinVar
683472 669769 Benign not_provided . . HOM Link to ClinVar
672609 669801 Benign not_provided . . HOM Link to ClinVar
683478 669803 Benign not_provided . . HOM Link to ClinVar
683479 669804 Benign not_provided . . HET Link to ClinVar
671111 669509 Benign not_provided . . HET Link to ClinVar
672662 668453 Benign not_provided . . HOM Link to ClinVar
672665 669840 Benign not_provided . . HOM Link to ClinVar
683485 669842 Benign not_provided . . HOM Link to ClinVar
672694 668454 Benign not_provided . . HOM Link to ClinVar
137181 140884 Benign not_specified 0.24061 0.26697 HOM Link to ClinVar
159884 169419 Likely_benign not_specified 0.50727 0.49301 HET Link to ClinVar
326725 331273 Benign Schinzel-Giedion_syndrome
not_specified		 0.51458 0.49381 HET Link to ClinVar
159885 169420 Benign Schinzel-Giedion_syndrome
not_specified
not_provided		 . 0.15675 HET Link to ClinVar
159875 169429 Benign Schinzel-Giedion_syndrome
not_specified
not_provided		 0.87748 0.90695 HOM Link to ClinVar
159881 169435 Conflicting_interpretations_of_pathogenicity Schinzel-Giedion_syndrome
not_specified		 0 0.0006 HET Link to ClinVar
326796 347040 Benign Schinzel-Giedion_syndrome . . HET Link to ClinVar
673502 656487 Benign not_provided . . HET Link to ClinVar
680068 656488 Benign not_provided . . HET Link to ClinVar
402833 390442 Benign Vici_syndrome
not_specified
not_provided		 0.4909 0.42692 HET Link to ClinVar
683334 669516 Benign not_provided . . HET Link to ClinVar
683333 669518 Benign not_provided . . HET Link to ClinVar
377534 375923 Benign not_specified 0.38162 0.31589 HET Link to ClinVar
683326 668456 Benign not_provided . . HET Link to ClinVar
683323 669523 Benign not_provided . . HET Link to ClinVar
683322 669851 Benign not_provided . . HET Link to ClinVar
683320 669525 Benign not_provided . . HET Link to ClinVar
683319 668463 Benign not_provided . . HET Link to ClinVar
262524 256660 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.26875 . HET Link to ClinVar
178394 176692 Conflicting_interpretations_of_pathogenicity not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.00465 0.0016 HET Link to ClinVar
163895 176555 Benign/Likely_benign not_specified
not_provided		 0.00144 0.0002 HET Link to ClinVar
191090 188895 Benign Deafness,_autosomal_recessive_77
not_specified		 . 0.62021 HET Link to ClinVar
47934 57098 Benign/Likely_benign Deafness,_autosomal_recessive_77
not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.76751 0.69469 HET Link to ClinVar
668869 669542 Benign not_provided . . HOM Link to ClinVar
675460 669552 Benign not_provided . . HOM Link to ClinVar
326924 348441 Uncertain_significance Diarrhea_with_Microvillus_Atrophy . . HET Link to ClinVar
326956 347141 Uncertain_significance Diarrhea_with_Microvillus_Atrophy . . HET Link to ClinVar
326957 348461 Uncertain_significance Diarrhea_with_Microvillus_Atrophy . . HET Link to ClinVar
326990 347160 Benign Diarrhea_with_Microvillus_Atrophy . 0.53534 HET Link to ClinVar
327014 348523 Benign Congenital_microvillous_atrophy
not_specified
Diarrhea_with_Microvillus_Atrophy		 . 0.35403 HET Link to ClinVar
327025 348528 Benign not_specified
Diarrhea_with_Microvillus_Atrophy		 0.25335 0.29992 HET Link to ClinVar
327028 348529 Benign/Likely_benign not_specified
Diarrhea_with_Microvillus_Atrophy		 0.05913 0.05312 HET Link to ClinVar
327030 347190 Benign not_specified
Diarrhea_with_Microvillus_Atrophy		 . 0.28974 HET Link to ClinVar
327031 347192 Benign not_specified
Diarrhea_with_Microvillus_Atrophy		 0.34201 0.40475 HET Link to ClinVar
327053 341822 Benign Congenital_microvillous_atrophy
not_specified
Diarrhea_with_Microvillus_Atrophy		 0.48307 0.41134 HET Link to ClinVar
327087 341861 Benign Congenital_microvillous_atrophy
not_specified
Diarrhea_with_Microvillus_Atrophy		 0.99309 0.97344 HOM Link to ClinVar
262560 256670 Benign not_specified 0.30029 0.19349 HET Link to ClinVar
262557 256673 Benign not_specified 0.29607 0.29653 HET Link to ClinVar
262553 256676 Benign not_specified 0.31905 0.20088 HET Link to ClinVar
680783 668486 Benign not_provided . . HET Link to ClinVar
677079 669334 Benign not_provided . . HET Link to ClinVar
680784 669338 Benign not_provided . . HOM Link to ClinVar
680785 669342 Benign not_provided . . HET Link to ClinVar
327175 347320 Benign Myhre_syndrome
Hereditary_hemorrhagic_telangiectasia_type_1
not_specified
Juvenile_Polyposis		 . 0.20268 HET Link to ClinVar
327208 331704 Benign Myhre_syndrome
Hereditary_hemorrhagic_telangiectasia_type_1
Juvenile_Polyposis		 . . HET Link to ClinVar
327211 347339 Benign Myhre_syndrome
Hereditary_hemorrhagic_telangiectasia_type_1
Juvenile_Polyposis		 . 0.3782 HET Link to ClinVar
769443 704620 Benign not_provided . . HET Link to ClinVar
327228 347356 Benign Pitt-Hopkins_syndrome . 0.39736 HET Link to ClinVar
327231 341965 Benign Pitt-Hopkins_syndrome . 0.44369 HET Link to ClinVar
327244 348698 Benign Pitt-Hopkins_syndrome . . HET Link to ClinVar
327246 341976 Likely_benign Pitt-Hopkins_syndrome . 0.0024 HET Link to ClinVar
327268 348735 Likely_benign Pitt-Hopkins_syndrome . . HET Link to ClinVar
327285 342011 Benign Pitt-Hopkins_syndrome . . HET Link to ClinVar
327287 342018 Benign Pitt-Hopkins_syndrome . . HET Link to ClinVar
327293 342031 Benign Pitt-Hopkins_syndrome . . HET Link to ClinVar
93544 99449 Benign Pitt-Hopkins_syndrome
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.37136 0.34245 HET Link to ClinVar
670816 668503 Benign not_provided . . HET Link to ClinVar
670815 669348 Benign not_provided . . HET Link to ClinVar
668653 669558 Benign not_provided . . HET Link to ClinVar
672226 669561 Benign not_provided . . HET Link to ClinVar
670687 669572 Benign not_provided . . HET Link to ClinVar
670703 669353 Benign not_provided . . HET Link to ClinVar
673242 669584 Likely_benign not_provided . . HET Link to ClinVar
672225 668507 Benign not_provided . . HET Link to ClinVar
160089 169448 Benign not_specified
not_provided		 0.48925 0.57029 HET Link to ClinVar
160083 169454 Benign not_specified
not_provided		 0.21729 0.19229 HET Link to ClinVar
679855 669880 Benign not_provided . . HET Link to ClinVar
674957 668513 Benign not_provided . . HET Link to ClinVar
674956 669372 Benign not_provided . . HET Link to ClinVar
674955 668520 Benign not_provided . . HET Link to ClinVar
803498 791872 Benign Pitt-Hopkins_syndrome . . HOM Link to ClinVar
327316 348769 Benign Protoporphyria,_erythropoietic,_1 . 0.22863 HET Link to ClinVar
327328 342067 Benign Protoporphyria,_erythropoietic,_1 . 0.17492 HET Link to ClinVar
327335 347443 Benign Protoporphyria,_erythropoietic,_1 . 0.76538 HOM Link to ClinVar
327366 331802 Benign Protoporphyria,_erythropoietic,_1 . 0.9992 HOM Link to ClinVar
327373 348807 Benign Protoporphyria,_erythropoietic,_1 . 0.9992 HOM Link to ClinVar
255312 256682 Benign Protoporphyria,_erythropoietic,_1
not_specified		 0.70297 0.75759 HET Link to ClinVar
255311 256683 Benign Protoporphyria,_erythropoietic,_1
not_specified		 . 0.7496 HET Link to ClinVar
327434 331897 Benign Protoporphyria,_erythropoietic,_1 0.10291 0.05172 HET Link to ClinVar
550 15589 Benign Jaundice
Erythema
Protoporphyria,_erythropoietic,_1		 . 0.33467 HET Link to ClinVar
327440 347495 Benign Progressive_familial_intrahepatic_cholestasis . 0.14716 HET Link to ClinVar
327445 342149 Benign Progressive_familial_intrahepatic_cholestasis . 0.14736 HET Link to ClinVar
327449 331916 Benign Progressive_familial_intrahepatic_cholestasis . 0.46605 HET Link to ClinVar
259823 256688 Benign Progressive_familial_intrahepatic_cholestasis
not_specified		 0.23062 0.14058 HET Link to ClinVar
259828 256696 Benign Progressive_familial_intrahepatic_cholestasis
not_specified		 . 0.99261 HOM Link to ClinVar
259827 256697 Benign not_specified 0.47626 0.44209 HET Link to ClinVar
259826 256698 Benign Progressive_familial_intrahepatic_cholestasis
not_specified		 . 0.99461 HOM Link to ClinVar
225996 227795 drug_response diuretics_response_-_Efficacy
hydrochlorothiazide_response_-_Efficacy		 0.28408 0.27616 HET Link to ClinVar
417001 402844 Benign not_provided 0.00412 0.0012 HET Link to ClinVar
327514 347559 Likely_benign Anophthalmia_-_microphthalmia . . HET Link to ClinVar
327519 348931 Likely_benign Anophthalmia_-_microphthalmia . 0.21446 HET Link to ClinVar
327521 342194 Likely_benign Anophthalmia_-_microphthalmia . 0.20567 HET Link to ClinVar
327539 348942 Benign Combined_deficiency_of_factor_V_and_factor_VIII,_1 . 0.32608 HET Link to ClinVar
259793 256703 Benign not_specified 0.31633 0.35603 HET Link to ClinVar
327583 342223 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.79273 HOM Link to ClinVar
327588 342225 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.82109 HOM Link to ClinVar
327591 348981 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.85982 HOM Link to ClinVar
327594 347639 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.4401 HET Link to ClinVar
327596 348983 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . HOM Link to ClinVar
327597 342230 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.85963 HOM Link to ClinVar
327603 348991 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.85903 HOM Link to ClinVar
327620 342242 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . HOM Link to ClinVar
327633 347684 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.4349 HET Link to ClinVar
327639 349014 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.85523 HOM Link to ClinVar
327640 347693 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.54054 HOM Link to ClinVar
327645 347695 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.85264 HOM Link to ClinVar
327646 332078 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.85124 HOM Link to ClinVar
327655 342260 Likely_benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.09365 HET Link to ClinVar
327683 332119 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . 0.30132 HET Link to ClinVar
262349 256709 Conflicting_interpretations_of_pathogenicity Hennekam_lymphangiectasia-lymphedema_syndrome_1
not_specified		 0.01004 0.00699 HET Link to ClinVar
262355 256712 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1
not_specified		 0.53108 0.54094 HET Link to ClinVar
262353 256714 Benign not_specified 0.9873 0.95627 HOM Link to ClinVar
262352 256715 Benign not_specified 0.453 0.43231 HET Link to ClinVar
803505 791879 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . HET Link to ClinVar
225961 227796 drug_response antipsychotics_response_-_Toxicity/ADR . 0.24002 HET Link to ClinVar
226003 227797 drug_response amisulpride_response_-_Toxicity/ADR
aripiprazole_response_-_Toxicity/ADR
clozapine_response_-_Toxicity/ADR
haloperidol_response_-_Toxicity/ADR
olanzapine_response_-_Toxicity/ADR
paliperidone_response_-_Toxicity/ADR
quetiapine_response_-_Toxicity/ADR
risperidone_response_-_Toxicity/ADR
ziprasidone_response_-_Toxicity/ADR		 . 0.35124 HET Link to ClinVar
518281 508906 Benign History_of_neurodevelopmental_disorder
Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1
not_provided		 1 1 HOM Link to ClinVar
259177 256719 Benign/Likely_benign Osteopetrosis
Paget_disease_of_bone
not_specified		 . 0.23682 HOM Link to ClinVar
193259 190423 Benign/Likely_benign Osteopetrosis
Paget_disease_of_bone
not_specified		 0.125 0.23502 HOM Link to ClinVar
259183 256723 Benign/Likely_benign Osteopetrosis
Paget_disease_of_bone
not_specified		 0.95622 0.98083 HOM Link to ClinVar
684156 669610 Benign not_provided . . HOM Link to ClinVar
684155 669881 Benign not_provided . . HOM Link to ClinVar
130188 135635 Benign not_specified 0.91844 0.79074 HOM Link to ClinVar
684154 669616 Benign not_provided . . HOM Link to ClinVar
670493 668532 Benign not_provided . . HET Link to ClinVar
684135 669622 Benign not_provided . . HOM Link to ClinVar
684134 669890 Benign not_provided . . HOM Link to ClinVar
327761 349148 Benign not_specified
Disease_Association_NOS
not_provided		 . . HOM Link to ClinVar
130179 135626 Benign not_specified . 0.71226 HOM Link to ClinVar
130821 136266 Likely_benign not_specified 0.98983 0.99361 HOM Link to ClinVar
130826 136271 Likely_benign not_specified 0.83219 0.76038 HOM Link to ClinVar
327774 349158 Benign Aural_atresia,_congenital . . . Link to ClinVar
327778 332189 Uncertain_significance Aural_atresia,_congenital . . HET Link to ClinVar
193292 190456 Benign not_specified 0.67924 0.65535 HET Link to ClinVar
259524 256726 Benign not_specified . 0.73502 HET Link to ClinVar
803507 791884 Benign Congenital_Cataracts,_Facial_Dysmorphism,_and_Neuropathy . . HET Link to ClinVar
128865 134313 Benign Congenital_Cataracts,_Facial_Dysmorphism,_and_Neuropathy
not_specified		 0.96657 0.89517 HOM Link to ClinVar
773075 705350 Benign not_provided . . HET Link to ClinVar
667820 670430 Benign not_provided . . HOM Link to ClinVar
137199 140902 Benign not_specified . 0.04852 HET Link to ClinVar
402532 390449 Benign not_specified 0.59138 0.4409 HET Link to ClinVar
286524 270761 Benign not_specified
not_provided		 0.25911 0.1863 HET Link to ClinVar
447660 442261 Benign not_specified 0.78271 0.78395 HOM Link to ClinVar
328217 332571 Likely_benign Peutz-Jeghers_syndrome . 0.00379 HET Link to ClinVar
256203 256769 Benign not_specified 0.32474 0.35344 HET Link to ClinVar
256205 256771 Benign not_specified 0.46605 0.53015 HET Link to ClinVar
256206 256772 Likely_benign not_specified . . HET Link to ClinVar
328243 332606 Benign Peutz-Jeghers_syndrome . 0.70787 HET Link to ClinVar
671566 668709 Likely_benign not_provided . . HET Link to ClinVar
683138 670152 Benign not_provided . . HOM Link to ClinVar
129702 135148 Likely_benign Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided		 0.55022 0.45567 HOM Link to ClinVar
684336 669861 Benign not_provided . . HET Link to ClinVar
683141 669623 Benign not_provided . . HOM Link to ClinVar
21067 33919 Benign Deficiency_of_guanidinoacetate_methyltransferase
not_provided		 0.12942 0.11322 HET Link to ClinVar
440243 433894 Benign not_specified 0.08728 0.04932 HET Link to ClinVar
430490 422250 Uncertain_significance not_provided 0.00083 0.0004 HET Link to ClinVar
381531 377366 Benign/Likely_benign Persistent_Mullerian_duct_syndrome
not_specified
not_provided		 0.00839 0.00479 HET Link to ClinVar
518297 508922 Benign Persistent_Mullerian_duct_syndrome 0.82257 0.91893 HOM Link to ClinVar
46571 55736 Benign not_specified 0.14678 0.22684 HET Link to ClinVar
682948 669896 Benign not_provided . . HET Link to ClinVar
46572 55737 Benign not_specified . 0.20447 HET Link to ClinVar
263264 256888 Benign not_specified 0.42364 0.32967 HOM Link to ClinVar
263269 256889 Benign not_specified 0.59817 0.54173 HOM Link to ClinVar
263267 256891 Benign not_specified . 0.05371 HET Link to ClinVar
328952 343371 Benign Macular_degeneration
Cone-Rod_Dystrophy,_Dominant		 . 0.81689 HET Link to ClinVar
329155 333494 Benign Cerebellar_ataxia,_Cayman_type . . HET Link to ClinVar
329196 333507 Benign Cerebellar_ataxia,_Cayman_type . 0.83287 HET Link to ClinVar
128959 134406 Benign not_specified
not_provided		 0.84985 0.91314 HOM Link to ClinVar
128958 134405 Benign not_specified
not_provided		 0.84927 0.91314 HOM Link to ClinVar
561820 553028 Benign not_provided . 0.45447 HET Link to ClinVar
40835 49305 Benign Cardiofaciocutaneous_syndrome_4
not_specified
not_provided		 0.77176 0.77356 HET Link to ClinVar
40816 49286 Benign Cardiofaciocutaneous_syndrome_4
Rasopathy
not_specified
not_provided		 0.54717 0.43331 HET Link to ClinVar
561536 553038 Benign not_provided . 0.33007 HET Link to ClinVar
561366 553042 Benign not_provided . 0.79553 HOM Link to ClinVar
403542 390426 Benign not_specified 0.6652 0.72564 HET Link to ClinVar
242770 32755 . . . 0.2528 HET Link to ClinVar
768957 705303 Benign not_provided . . HET Link to ClinVar
330240 349414 Likely_benign Mitochondrial_complex_I_deficiency 0.67498 0.68151 HET Link to ClinVar
330244 334435 Likely_benign Mitochondrial_complex_I_deficiency 0.74887 0.72664 HET Link to ClinVar
330250 344317 Benign Dystonia
Leukodystrophy,_hypomyelinating,_6		 . 0.40156 HET Link to ClinVar
330285 349446 Benign Macular_degeneration
C3_deficiency
Atypical_hemolytic_uremic_syndrome		 0.08525 0.09125 HET Link to ClinVar
330310 350452 Likely_benign Macular_degeneration
C3_deficiency
Atypical_hemolytic_uremic_syndrome		 0.00209 0.0008 HET Link to ClinVar
403601 390471 Benign not_specified 0.12702 0.09285 HOM Link to ClinVar
403602 390329 Benign not_specified 0.26094 0.21126 HOM Link to ClinVar
330380 350496 Benign Leprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans		 . 0.71765 HOM Link to ClinVar
330433 350526 Benign Leprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans		 . . HOM Link to ClinVar
330436 334616 Benign Leprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans		 . 0.8774 HOM Link to ClinVar
14707 29746 Conflicting_interpretations_of_pathogenicity Diabetes_mellitus_type_2
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
Monogenic_diabetes
not_specified
not_provided		 0.009 0.00499 HET Link to ClinVar
439832 433296 Benign not_specified 0.23924 0.20427 HET Link to ClinVar
198697 195858 Benign Leprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
not_specified		 . 0.24481 HET Link to ClinVar
439831 433297 Benign not_specified . 0.2478 HET Link to ClinVar
439830 433299 Benign not_specified 0.47221 0.54972 HET Link to ClinVar
193063 190228 Benign Leprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
not_specified		 1 1 HOM Link to ClinVar
261324 257262 Benign/Likely_benign Mucolipidosis_type_IV
not_specified
not_provided		 0.28745 0.25559 HET Link to ClinVar
129977 135423 Benign/Likely_benign not_specified
Spastic_Paraplegia,_Recessive
not_provided		 . 0.11841 HET Link to ClinVar
330520 344527 Benign/Likely_benign not_specified
Spastic_Paraplegia,_Recessive		 0.28137 0.24381 HET Link to ClinVar
330522 334701 Benign not_specified
Spastic_Paraplegia,_Recessive
not_provided		 0.63855 0.69449 HET Link to ClinVar
129978 135424 Benign/Likely_benign not_specified
Spastic_Paraplegia,_Recessive		 0.2136 0.20208 HET Link to ClinVar
380864 379673 Benign not_specified 0.3688 0.34705 HET Link to ClinVar
380865 376888 Benign not_specified 0.39249 0.34685 HET Link to ClinVar
680709 668986 Benign not_provided . . HET Link to ClinVar
378402 376892 Benign not_specified 0.12977 0.1256 HET Link to ClinVar
680710 670169 Benign not_provided . . HET Link to ClinVar
667947 670093 Benign not_provided . . HET Link to ClinVar
240699 243570 Conflicting_interpretations_of_pathogenicity Spastic_paraplegia_39
not_specified
Spastic_Paraplegia,_Recessive		 0.01098 0.00419 HET Link to ClinVar
680711 670174 Benign not_provided . . HET Link to ClinVar
429198 422303 Benign not_specified . . HOM Link to ClinVar
683454 668992 Benign not_provided . . HET Link to ClinVar
683460 670177 Benign not_provided . . HET Link to ClinVar
683462 670415 Benign not_provided . . HET Link to ClinVar
403501 390372 Benign not_specified 0.39025 0.2478 HET Link to ClinVar
260104 257265 Benign Familial_hemophagocytic_lymphohistiocytosis
not_specified		 0.40437 0.48243 HET Link to ClinVar
260087 257278 Benign not_specified 0.39318 0.52696 HET Link to ClinVar
260088 257280 Benign not_specified 0.46196 0.51637 HET Link to ClinVar
260089 257281 Benign Familial_hemophagocytic_lymphohistiocytosis
not_specified		 0.46264 0.50419 HET Link to ClinVar
260092 257284 Benign not_specified 0.10568 0.05611 HET Link to ClinVar
260094 257286 Benign Familial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_5
not_specified		 0.63516 0.70607 HET Link to ClinVar
260100 257290 Benign not_specified 0.35822 0.3157 HET Link to ClinVar
260102 257292 Benign not_specified . . HET Link to ClinVar
137647 141350 Benign not_specified
not_provided		 0.03077 0.01418 HET Link to ClinVar
137657 141360 Benign not_specified 0.26128 0.17272 HET Link to ClinVar
508144 508029 Benign not_specified 0.08549 0.1284 HET Link to ClinVar
518307 508932 Benign Weill-Marchesani_syndrome_1
not_provided		 0.99989 0.9998 HOM Link to ClinVar
330587 349596 Benign Weill-Marchesani_syndrome
not_provided		 0.20834 0.1847 HET Link to ClinVar
330610 344604 Benign Weill-Marchesani_syndrome
Weill-Marchesani_syndrome_1		 0.7994 0.89397 HOM Link to ClinVar
770806 705381 Benign not_provided . . HET Link to ClinVar
180725 178886 association Cataplexy_and_narcolepsy . 0.66554 HOM Link to ClinVar
180727 178887 association Cataplexy_and_narcolepsy . 0.6224 HOM Link to ClinVar
180728 178888 association Cataplexy_and_narcolepsy . 0.65555 HOM Link to ClinVar
180730 178889 association Cataplexy_and_narcolepsy . 0.64317 HOM Link to ClinVar
680553 669651 Benign not_provided . . HET Link to ClinVar
681295 669394 Benign not_provided . . HET Link to ClinVar
257538 256731 Benign not_specified
Dementia,_Deafness,_and_Sensory_Neuropathy		 0.51797 0.53335 HOM Link to ClinVar
257537 256732 Benign not_specified
Dementia,_Deafness,_and_Sensory_Neuropathy		 . 0.99581 HOM Link to ClinVar
257536 256733 Benign not_specified
Dementia,_Deafness,_and_Sensory_Neuropathy		 0.51876 0.53395 HOM Link to ClinVar
327914 332327 Benign Dementia,_Deafness,_and_Sensory_Neuropathy . . . Link to ClinVar
137133 140836 Benign not_specified
Dementia,_Deafness,_and_Sensory_Neuropathy		 0.13196 0.19828 HET Link to ClinVar
679319 669428 Benign not_provided . . HOM Link to ClinVar
679318 669912 Benign not_provided . . HOM Link to ClinVar
506085 497508 Benign not_specified . 0.55192 HOM Link to ClinVar
380038 377003 Benign not_specified 0.56755 0.49281 HET Link to ClinVar
380037 379161 Benign not_specified 0.48937 0.49281 HET Link to ClinVar
673301 668546 Benign not_provided . . HET Link to ClinVar
673300 668547 Benign not_provided . . HOM Link to ClinVar
677727 669437 Benign not_provided . . HET Link to ClinVar
137868 141571 Benign/Likely_benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 0.12195 0.09645 HET Link to ClinVar
259041 256741 Benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 0.50821 0.53315 HOM Link to ClinVar
137865 141568 Benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 0.32171 0.32987 HET Link to ClinVar
673299 669946 Benign not_provided . . HET Link to ClinVar
677150 669654 Benign not_provided . . HOM Link to ClinVar
137864 141567 Benign/Likely_benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 0.06402 0.04373 HET Link to ClinVar
259040 256742 Benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 0.27684 0.26578 HET Link to ClinVar
327965 342535 Benign Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive . 0.17871 HET Link to ClinVar
256866 256744 Benign not_specified 0.55278 0.55711 HOM Link to ClinVar
210855 208503 Likely_benign not_specified . . HET Link to ClinVar
679311 669952 Benign not_provided . . HOM Link to ClinVar
679312 669670 Benign not_provided . . HET Link to ClinVar
676520 668593 Benign not_provided . . HOM Link to ClinVar
676521 669691 Benign not_provided . . HET Link to ClinVar
226710 230979 Conflicting_interpretations_of_pathogenicity Familial_hypercholesterolemia_1
not_specified
not_provided		 0.99993 1 HOM Link to ClinVar
251997 246298 Benign/Likely_benign Familial_hypercholesterolemia_1
not_specified		 0.11584 0.08886 HET Link to ClinVar
36460 45123 Conflicting_interpretations_of_pathogenicity Familial_hypercholesterolemia
Familial_hypercholesterolemia_1
not_specified
not_provided		 0.00694 0.0028 HET Link to ClinVar
252262 246555 Benign/Likely_benign Familial_hypercholesterolemia_1
not_specified		 0.77621 0.78015 HET Link to ClinVar
252277 246570 Likely_benign Familial_hypercholesterolemia_1 . 0.85663 HOM Link to ClinVar
265907 260662 Benign Familial_hypercholesterolemia_1 0.24761 0.23183 HET Link to ClinVar
265908 260663 Benign Familial_hypercholesterolemia_1 . 0.23403 HET Link to ClinVar
265910 260665 Benign/Likely_benign Familial_hypercholesterolemia_1 0.24639 0.23363 HET Link to ClinVar
328058 332460 Likely_benign Familial_hypercholesterolemia_1 0.84243 0.752 HOM Link to ClinVar
328064 349296 Likely_benign Familial_hypercholesterolemia_1 . 0.3115 HET Link to ClinVar
328070 348008 Likely_benign Familial_hypercholesterolemia_1 . 0.63718 HET Link to ClinVar
328072 332467 Likely_benign Familial_hypercholesterolemia_1 . 0.23443 HET Link to ClinVar
328086 349320 Likely_benign Familial_hypercholesterolemia_1 . 0.23443 HET Link to ClinVar
328089 349323 Likely_benign Familial_hypercholesterolemia_1 . . HET Link to ClinVar
328091 332482 Likely_benign Familial_hypercholesterolemia_1 . 0.80092 HOM Link to ClinVar
328095 342679 Likely_benign Familial_hypercholesterolemia_1 . 0.23423 HET Link to ClinVar
328097 348015 Likely_benign Familial_hypercholesterolemia_1 . 0.16374 HET Link to ClinVar
328099 348025 Likely_benign Familial_hypercholesterolemia_1 . 0.23423 HET Link to ClinVar
328101 349330 Likely_benign Familial_hypercholesterolemia_1 . 0.11042 HET Link to ClinVar
328102 349331 Likely_benign Familial_hypercholesterolemia_1 . 0.25938 HET Link to ClinVar
328103 342685 Likely_benign Familial_hypercholesterolemia_1 . 0.23423 HET Link to ClinVar
328104 332486 Likely_benign Familial_hypercholesterolemia_1 . 0.23423 HET Link to ClinVar
328122 342698 Likely_benign Familial_hypercholesterolemia_1 . . HOM Link to ClinVar
518283 508908 Benign Adams-Oliver_syndrome_2 0.53865 0.44169 HOM Link to ClinVar
518285 508910 Benign Adams-Oliver_syndrome_2 . 0.5008 HOM Link to ClinVar
518286 508911 Benign Adams-Oliver_syndrome_2 0.55647 0.45268 HOM Link to ClinVar
518287 508912 Benign Adams-Oliver_syndrome_2 0.40351 0.27836 HET Link to ClinVar
518288 508913 Benign Adams-Oliver_syndrome_2 . 0.59345 HOM Link to ClinVar
518289 508914 Benign Adams-Oliver_syndrome_2 0.64357 0.57947 HOM Link to ClinVar
518290 508915 Benign Adams-Oliver_syndrome_2 . 0.3135 HET Link to ClinVar
261359 256758 Benign Adams-Oliver_syndrome_2
not_specified		 0.6466 0.51957 HET Link to ClinVar
261356 256759 Benign Adams-Oliver_syndrome_2
not_specified		 0.69664 0.59125 HOM Link to ClinVar
262567 257300 Benign not_specified 0.96342 0.91234 HOM Link to ClinVar
94078 99980 Benign Polycystic_liver_disease_1
not_specified		 0.9922 0.99461 HOM Link to ClinVar
94080 99982 Benign not_specified . . . Link to ClinVar
684380 670033 Benign not_provided . . HOM Link to ClinVar
684379 669713 Benign not_provided . . HOM Link to ClinVar
684378 669716 Benign not_provided . . HOM Link to ClinVar
684376 668607 Benign not_provided . . HOM Link to ClinVar
684375 669539 Benign not_provided . . HOM Link to ClinVar
558861 549786 Benign not_provided 0.53105 0.36781 HOM Link to ClinVar
684373 670038 Benign not_provided . . HOM Link to ClinVar
93207 99114 Benign Deficiency_of_alpha-mannosidase
not_specified
not_provided		 . 0.2484 HOM Link to ClinVar
93218 99125 Benign Deficiency_of_alpha-mannosidase
not_specified
not_provided		 . 0.32788 HOM Link to ClinVar
684372 669718 Benign not_provided . . HOM Link to ClinVar
93217 99124 Benign Deficiency_of_alpha-mannosidase
not_specified
not_provided		 0.25665 0.23942 HET Link to ClinVar
684371 669722 Benign not_provided . . HOM Link to ClinVar
260001 256779 Benign Congenital_dyserythropoietic_anemia
not_specified		 0.43921 0.44429 HET Link to ClinVar
208504 205029 Benign Glutaric_acidemia
Glutaric_aciduria,_type_1		 0.61302 0.72045 HET Link to ClinVar
668052 669540 Benign not_provided . . HET Link to ClinVar
668051 668613 Benign not_provided . . HOM Link to ClinVar
388018 379328 Benign/Likely_benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 . . HET Link to ClinVar
678196 669548 Benign not_provided . . HOM Link to ClinVar
678195 669549 Benign not_provided . . HOM Link to ClinVar
668050 669747 Benign not_provided . . HOM Link to ClinVar
678193 668623 Benign not_provided . . HOM Link to ClinVar
668778 669756 Benign not_provided . . HET Link to ClinVar
678182 668641 Benign not_provided . . HOM Link to ClinVar
678179 669789 Benign not_provided . . HOM Link to ClinVar
680063 668657 Benign not_provided . . HOM Link to ClinVar
680060 668658 Benign not_provided . . HET Link to ClinVar
680059 669571 Benign not_provided . . HOM Link to ClinVar
680058 668661 Benign not_provided . . HET Link to ClinVar
680057 669792 Benign not_provided . . HOM Link to ClinVar
680056 669579 Benign not_provided . . HET Link to ClinVar
257510 256786 Benign not_specified 0.74909 0.73922 HOM Link to ClinVar
680055 670110 Benign not_provided . . HET Link to ClinVar
668029 668686 Benign not_provided . . HET Link to ClinVar
668028 670125 Benign not_provided . . HET Link to ClinVar
678170 669844 Benign not_provided . . HET Link to ClinVar
93559 99464 Benign History_of_neurodevelopmental_disorder
not_specified		 0.68568 0.64117 HET Link to ClinVar
668027 668687 Benign not_provided . . HET Link to ClinVar
678169 669849 Benign not_provided . . HET Link to ClinVar
678168 668704 Benign not_provided . . HET Link to ClinVar
128619 134068 Benign History_of_neurodevelopmental_disorder
not_specified		 0.21038 0.125 HET Link to ClinVar
156715 166575 not_provided not_provided 0.22187 . HET Link to ClinVar
328357 332715 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1 . 0.6238 HOM Link to ClinVar
328360 349437 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1 . 0.6238 HOM Link to ClinVar
328361 342885 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1 . 0.6234 HOM Link to ClinVar
328363 332719 Likely_benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1 . 0.01098 HET Link to ClinVar
256152 256792 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.75907 0.62939 HOM Link to ClinVar
811011 800100 Benign not_specified . . HOM Link to ClinVar
256145 256798 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 . 0.86901 HOM Link to ClinVar
811010 800101 Benign not_specified . . HOM Link to ClinVar
256141 256802 Benign not_specified 0.87172 0.86661 HOM Link to ClinVar
811008 800102 Benign not_specified . . HOM Link to ClinVar
256140 256803 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.87407 0.87001 HOM Link to ClinVar
811007 800103 Benign not_specified . . HOM Link to ClinVar
256138 256805 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.88124 0.87181 HOM Link to ClinVar
811005 800107 Benign not_specified . . HOM Link to ClinVar
811006 800109 Benign not_specified . . HOM Link to ClinVar
811009 800112 Benign not_specified . . HOM Link to ClinVar
256130 256812 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.80193 0.73902 HOM Link to ClinVar
256129 256813 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.64274 0.51997 HOM Link to ClinVar
256120 256822 Benign/Likely_benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.02072 0.00359 HET Link to ClinVar
256118 256823 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.85723 0.85423 HOM Link to ClinVar
256117 256824 Benign/Likely_benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.02557 0.01518 HET Link to ClinVar
256148 256825 Benign Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified		 0.85812 0.85583 HOM Link to ClinVar
328441 348283 Benign Congenital_ichthyosiform_erythroderma . . HET Link to ClinVar
328452 342948 Benign Congenital_ichthyosiform_erythroderma . 0.83027 HET Link to ClinVar
328454 348301 Benign Congenital_ichthyosiform_erythroderma . 0.51218 HET Link to ClinVar
328458 349507 Benign Congenital_ichthyosiform_erythroderma . 0.41574 HET Link to ClinVar
770460 704825 Benign not_provided . . HET Link to ClinVar
770462 704830 Benign not_provided . . HET Link to ClinVar
225969 227800 drug_response warfarin_response_-_Other
acenocoumarol_response_-_Dosage
phenprocoumon_response_-_Dosage
warfarin_response_-_Dosage		 0.27258 0.23682 HET Link to ClinVar
496549 487993 Benign Familial_hypertrophic_cardiomyopathy_19
not_specified
Cardiovascular_phenotype
not_provided		 . 0.65056 HET Link to ClinVar
496548 488044 Benign Familial_hypertrophic_cardiomyopathy_19
not_specified
Cardiovascular_phenotype
not_provided		 0.14915 0.14457 HET Link to ClinVar
496547 487994 Benign Familial_hypertrophic_cardiomyopathy_19
not_provided		 0.12206 0.11402 HET Link to ClinVar
496546 487995 Benign Familial_hypertrophic_cardiomyopathy_19
not_specified
Cardiovascular_phenotype
not_provided		 0.70145 0.65895 HET Link to ClinVar
669942 668721 Benign not_provided . . HET Link to ClinVar
672549 669873 Benign not_provided . . HOM Link to ClinVar
137601 141304 Benign not_specified
Severe_Combined_Immune_Deficiency		 0.16158 0.11382 HET Link to ClinVar
256199 256834 Benign/Likely_benign Thyroid_dyshormonogenesis_1
not_specified
Thyroid_Hormonogenesis_Defect		 0.1795 0.1246 HET Link to ClinVar
328548 349547 Likely_benign Thyroid_Hormonogenesis_Defect . 0.15196 HET Link to ClinVar
328572 343055 Benign Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive 0.30902 0.1863 HET Link to ClinVar
328587 332869 Benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 . 0.2516 HET Link to ClinVar
328588 348404 Benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 0.28942 0.26857 HET Link to ClinVar
328596 348413 Benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 . 0.22983 HET Link to ClinVar
328597 343076 Benign/Likely_benign Disseminated_atypical_mycobacterial_infection
not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 0.27713 0.22943 HET Link to ClinVar
328599 348415 Benign not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive		 0.11854 0.12999 HET Link to ClinVar
497079 488503 Benign not_specified 0.89606 0.92392 HOM Link to ClinVar
803546 791917 Benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1 . . HOM Link to ClinVar
518294 508919 Benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1 0.88 0.86242 HOM Link to ClinVar
468323 469943 Benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1 0.04359 0.01957 HET Link to ClinVar
255121 256838 Benign not_specified 0.27195 0.19868 HOM Link to ClinVar
255119 256840 Benign/Likely_benign Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome
Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified		 0.04955 0.01957 HET Link to ClinVar
255118 256843 Benign not_specified 0.1223 0.11442 HET Link to ClinVar
328635 332938 Likely_benign MHC_Class_II_Deficiency . 0.0631 HET Link to ClinVar
328642 332953 Conflicting_interpretations_of_pathogenicity not_specified
MHC_Class_II_Deficiency		 0.05227 0.02875 HET Link to ClinVar
328657 348470 Likely_benign Neurodegeneration_with_brain_iron_accumulation_4 . 0.10124 HET Link to ClinVar
328672 349599 Benign Neurodegeneration_with_brain_iron_accumulation_4 0.68935 0.66494 HET Link to ClinVar
328674 332984 Benign Neurodegeneration_with_brain_iron_accumulation_4 0.69413 0.6871 HET Link to ClinVar
328692 333006 Benign Neurodegeneration_with_brain_iron_accumulation_4 0.69597 0.70967 HET Link to ClinVar
328706 349620 Likely_benign Neurodegeneration_with_brain_iron_accumulation_4 0.13605 0.10144 HET Link to ClinVar
328712 348512 Benign Neurodegeneration_with_brain_iron_accumulation_4 0.55466 0.61761 HET Link to ClinVar
328714 349622 Benign Neurodegeneration_with_brain_iron_accumulation_4 0.67666 0.61861 HET Link to ClinVar
128537 133985 Benign Neurodegeneration_with_brain_iron_accumulation_4
not_specified		 0.667 0.61382 HET Link to ClinVar
328740 333045 Likely_benign Cystinuria . 0.17492 HET Link to ClinVar
328747 333057 Likely_benign Cystinuria 0.20587 0.2482 HET Link to ClinVar
328754 349637 Likely_benign Cystinuria 0.29728 0.27816 HOM Link to ClinVar
328755 333073 Benign/Likely_benign Cystinuria 0.29711 0.27816 HOM Link to ClinVar
328756 343180 Likely_benign Cystinuria 0.10641 0.07228 HET Link to ClinVar
328759 333077 Likely_benign Cystinuria 0.3005 0.27995 HOM Link to ClinVar
328760 349639 Likely_benign Cystinuria 0.11302 0.08087 HET Link to ClinVar
328761 343185 Likely_benign Cystinuria 0.30983 0.30611 HOM Link to ClinVar
328762 348553 Likely_benign Cystinuria . 0.07228 HET Link to ClinVar
328763 333082 Likely_benign Cystinuria 0.19417 0.21146 HET Link to ClinVar
328774 333089 Benign Cystinuria . 0.53974 HOM Link to ClinVar
328776 343197 Benign Prolidase_deficiency . . HET Link to ClinVar
328777 343199 Benign Prolidase_deficiency . 0.28135 HET Link to ClinVar
328781 348563 Benign Prolidase_deficiency . 0.25839 HET Link to ClinVar
328791 348567 Benign Prolidase_deficiency
not_specified		 0.33656 0.27836 HET Link to ClinVar
328799 343220 Benign Prolidase_deficiency
not_specified		 0.14844 0.09844 HET Link to ClinVar
683808 669637 Benign not_provided . . HET Link to ClinVar
673876 669657 Likely_benign not_provided . . HET Link to ClinVar
138998 142701 Benign not_specified
not_provided		 0.42618 0.3776 HET Link to ClinVar
683809 668731 Benign not_provided . . HET Link to ClinVar
683811 669661 Benign not_provided . . HET Link to ClinVar
259500 256879 Benign/Likely_benign Finnish_congenital_nephrotic_syndrome
not_specified
not_provided		 . 0.29193 HET Link to ClinVar
193150 190315 Benign not_specified 1 1 HOM Link to ClinVar
227091 231000 Benign not_specified 0.92738 0.91274 HOM Link to ClinVar
137909 141612 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_2
not_specified
Primary_Microcephaly_2_With_or_Without_Cortical_Malformations		 . 0.1256 HET Link to ClinVar
670276 668738 Benign not_provided . . HET Link to ClinVar
670277 668739 Benign not_provided . . HOM Link to ClinVar
670861 670181 Benign not_provided . . HET Link to ClinVar
670278 668743 Benign not_provided . . HOM Link to ClinVar
160252 169493 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_2
not_specified
Primary_Microcephaly_2_With_or_Without_Cortical_Malformations		 . 0.125 HET Link to ClinVar
160254 169494 Benign not_specified
not_provided		 0.09145 0.05651 HET Link to ClinVar
670280 670185 Benign not_provided . . HET Link to ClinVar
667588 669682 Benign not_provided . . HOM Link to ClinVar
160265 169504 Benign not_specified
not_provided		 0.17886 0.125 HET Link to ClinVar
160269 169508 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_2
not_specified
Primary_Microcephaly_2_With_or_Without_Cortical_Malformations
not_provided		 0.64256 0.65415 HET Link to ClinVar
677466 669710 Benign not_provided . . HET Link to ClinVar
160301 169537 Benign Primary_autosomal_recessive_microcephaly_2
not_specified
Primary_Microcephaly_2_With_or_Without_Cortical_Malformations
not_provided		 0.74279 0.71625 HET Link to ClinVar
789119 716399 Benign not_provided . . HET Link to ClinVar
677199 656528 Benign not_provided . . HET Link to ClinVar
677198 656529 Benign not_provided . . HET Link to ClinVar
677197 656530 Benign not_provided . . HOM Link to ClinVar
677196 656532 Benign not_provided . . HOM Link to ClinVar
677195 656535 Benign not_provided . . HOM Link to ClinVar
677194 656537 Benign not_provided . . HET Link to ClinVar
677193 656538 Benign not_provided . . HET Link to ClinVar
677192 656540 Benign not_provided . . HOM Link to ClinVar
677235 656542 Benign not_provided . . HET Link to ClinVar
677211 656547 Benign not_provided . . HOM Link to ClinVar
133131 136878 Benign not_provided . 0.80691 HOM Link to ClinVar
93277 99184 Benign/Likely_benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.6074 0.54333 HOM Link to ClinVar
256531 256905 Likely_benign not_specified
not_provided		 . . HOM Link to ClinVar
680756 670195 Benign not_provided . . HOM Link to ClinVar
93243 99150 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 . 0.90395 HOM Link to ClinVar
133008 136756 Benign not_provided 0.98324 0.99461 HOM Link to ClinVar
669161 669746 Benign not_provided . . HOM Link to ClinVar
133064 136812 Benign not_provided . 0.57228 HOM Link to ClinVar
669164 668796 Benign not_provided . . HOM Link to ClinVar
133065 136813 Benign not_specified
not_provided		 0.87995 0.90196 HOM Link to ClinVar
93258 99165 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.63656 0.57129 HOM Link to ClinVar
133107 136854 Benign not_specified
not_provided		 . 0.57189 HOM Link to ClinVar
133110 136857 Benign not_provided . 0.58387 HOM Link to ClinVar
680757 670217 Benign not_provided . . HOM Link to ClinVar
133113 136860 Benign not_provided . 0.55511 HOM Link to ClinVar
93259 99166 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.62113 0.55411 HOM Link to ClinVar
133115 136862 Benign not_provided . 0.55371 HOM Link to ClinVar
669171 668799 Benign not_provided . . HOM Link to ClinVar
93261 99168 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.59619 0.54553 HOM Link to ClinVar
93284 99191 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.07188 0.08446 HET Link to ClinVar
93285 99192 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 . 0.12181 HET Link to ClinVar
93286 99193 Benign not_specified
not_provided		 0.06945 0.08466 HET Link to ClinVar
93289 99196 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.22205 0.26038 HET Link to ClinVar
93292 99199 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.33658 0.42193 HET Link to ClinVar
93294 99201 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.18208 0.23782 HET Link to ClinVar
133216 136963 Benign not_specified
not_provided		 0.33899 0.42891 HET Link to ClinVar
93296 99203 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.3261 0.41234 HET Link to ClinVar
669218 669807 Benign not_provided . . HET Link to ClinVar
669220 669810 Benign not_provided . . HET Link to ClinVar
256570 257017 Benign not_specified . . HET Link to ClinVar
93297 99204 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.32643 0.41514 HET Link to ClinVar
93298 99205 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.32942 0.41713 HET Link to ClinVar
93299 99206 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.32941 0.40595 HET Link to ClinVar
133224 136969 Benign not_specified
not_provided		 0.33911 0.40595 HET Link to ClinVar
133227 136972 Benign not_specified
not_provided		 0.31855 0.40595 HET Link to ClinVar
133228 136973 Benign not_specified
not_provided		 . 0.40575 HET Link to ClinVar
133229 136974 Benign not_provided . 0.40595 HET Link to ClinVar
669227 670245 Benign not_provided . . HET Link to ClinVar
93300 99207 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.32646 0.40815 HET Link to ClinVar
133231 136976 Benign not_specified
not_provided		 0.32353 0.40615 HET Link to ClinVar
133233 136978 Benign not_specified
not_provided		 . 0.40615 HET Link to ClinVar
590617 581559 Benign not_specified
not_provided		 . 0.40615 HET Link to ClinVar
93302 99209 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.32427 0.40615 HET Link to ClinVar
93303 99210 Benign not_specified
not_provided		 0.32195 0.40495 HET Link to ClinVar
133235 136980 Benign not_specified
not_provided		 0.32077 0.40595 HET Link to ClinVar
133236 136981 Benign not_provided . 0.40555 HET Link to ClinVar
669247 668819 Benign not_provided . . HET Link to ClinVar
680760 669815 Benign not_provided . . HET Link to ClinVar
256576 257022 Benign not_specified . . HET Link to ClinVar
93306 99213 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.3251 0.40695 HET Link to ClinVar
93239 99146 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.0562 0.02975 HET Link to ClinVar
132998 136746 Benign not_provided . 0.34984 HET Link to ClinVar
93242 99149 Benign/Likely_benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.07288 0.1242 HET Link to ClinVar
133000 136748 not_provided not_provided 0.33136 0.26797 HET Link to ClinVar
256396 257045 Benign/Likely_benign not_specified
not_provided		 0.00445 0.0014 HET Link to ClinVar
669253 668826 Benign not_provided . . HET Link to ClinVar
256413 257060 Benign not_specified 0.05035 0.04553 HET Link to ClinVar
133039 136787 not_provided not_provided . 0.40535 HET Link to ClinVar
680798 669976 Benign not_provided . . HET Link to ClinVar
93251 99158 Benign/Likely_benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided		 0.10451 0.03235 HET Link to ClinVar
93253 99160 Benign Malignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
RYR1-Related_Disorders
not_provided		 0.04604 0.03355 HET Link to ClinVar
256455 257097 Benign not_specified
not_provided		 0.06244 0.02756 HET Link to ClinVar
259582 257104 Benign Focal_segmental_glomerulosclerosis_1
not_specified		 0.41049 0.33926 HET Link to ClinVar
559111 549789 Benign not_provided 0.09918 0.07588 HET Link to ClinVar
559115 549793 Benign not_provided 0.47271 0.36502 HET Link to ClinVar
329207 349792 Likely_benign Hyperuricemia,_pulmonary_hypertension,_renal_failure,_and_alkalosis 0.44472 0.55072 HET Link to ClinVar
683699 669847 Benign not_provided . . HOM Link to ClinVar
329212 348834 Benign Hyperuricemia,_pulmonary_hypertension,_renal_failure,_and_alkalosis
not_provided		 0.70661 0.83467 HOM Link to ClinVar
683696 669850 Benign not_provided . . HET Link to ClinVar
683694 668849 Benign not_provided . . HET Link to ClinVar
670037 668850 Benign not_provided . . HET Link to ClinVar
329227 348839 Benign Hyperuricemia,_pulmonary_hypertension,_renal_failure,_and_alkalosis 0.71211 0.84205 HOM Link to ClinVar
769454 704975 Benign not_provided . . HET Link to ClinVar
41379 49803 Benign Syndactyly
Jarcho-Levin_syndrome
Spondylocostal_dysostosis_1,_autosomal_recessive
not_specified		 0.56864 0.62999 HET Link to ClinVar
130053 135499 Benign Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.94692 0.96546 HOM Link to ClinVar
130052 135498 Benign/Likely_benign Charcot-Marie-Tooth_disease,_demyelinating,_type_4F
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 . 0.09924 HET Link to ClinVar
130050 135496 Benign Charcot-Marie-Tooth_disease,_demyelinating,_type_4F
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.35044 0.29673 HET Link to ClinVar
130049 135495 Benign Charcot-Marie-Tooth_disease,_demyelinating,_type_4F
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.50704 0.53195 HOM Link to ClinVar
130048 135494 Benign Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.50685 0.53195 HOM Link to ClinVar
130051 135497 Benign/Likely_benign Charcot-Marie-Tooth_disease,_demyelinating,_type_4F
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided		 0.14547 0.10224 HET Link to ClinVar
680722 668856 Benign not_provided . . HET Link to ClinVar
678506 670267 Benign not_provided . . HOM Link to ClinVar
678507 670270 Benign not_provided . . HOM Link to ClinVar
163945 176729 Benign Cutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified		 0.49942 0.52436 HET Link to ClinVar
677985 670278 Benign not_provided . . HET Link to ClinVar
683627 670279 Benign not_provided . . HET Link to ClinVar
163946 176593 Benign Cutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified		 0.44795 0.49521 HET Link to ClinVar
178781 176731 Benign Cutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified		 0.45898 0.49501 HET Link to ClinVar
163947 176594 Benign/Likely_benign Cutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified		 . 0.04812 HET Link to ClinVar
683628 668872 Benign not_provided . . HET Link to ClinVar
683623 668875 Benign not_provided . . HET Link to ClinVar
178782 176026 Benign Cutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified		 0.53767 0.41713 HET Link to ClinVar
163950 176027 Benign Cutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified		 0.43887 0.51877 HET Link to ClinVar
678606 669888 Benign not_provided . . HET Link to ClinVar
384699 377666 Benign not_specified . 0.13678 HET Link to ClinVar
683204 668881 Benign not_provided . . HOM Link to ClinVar
380101 376538 Benign not_specified
not_provided		 0.03345 0.01318 HET Link to ClinVar
379941 376545 Benign not_specified
not_provided		 0.52602 0.53754 HOM Link to ClinVar
380045 376552 Benign not_specified
not_provided		 0.15128 0.09924 HET Link to ClinVar
768996 705005 Benign not_provided . . HOM Link to ClinVar
226002 227803 drug_response efavirenz_response_-_Metabolism/PK 0.33528 0.28914 HET Link to ClinVar
29671 38626 drug_response Efavirenz_response
efavirenz_response_-_Dosage
methadone_response_-_Dosage
efavirenz_response_-_Toxicity/ADR
nevirapine_response_-_Other		 . 0.3157 HET Link to ClinVar
120171 125779 drug_response Efavirenz_response
efavirenz_response_-_Metabolism/PK		 0.05632 . HET Link to ClinVar
375661 362510 drug_response efavirenz_response_-_Metabolism/PK . 0.73482 HOM Link to ClinVar
12534 27573 Benign Breast_cancer,_invasive,_susceptibility_to
Diaphyseal_dysplasia
Cystic_fibrosis
not_specified		 . 0.54533 HOM Link to ClinVar
39302 47908 Benign Diaphyseal_dysplasia . 0.63199 HOM Link to ClinVar
261879 257134 Benign/Likely_benign Meckel-Gruber_syndrome
not_specified		 0.06357 0.04133 HET Link to ClinVar
261881 257138 Benign Meckel-Gruber_syndrome
Meckel_syndrome,_type_10
not_specified
not_provided		 0.65496 0.64956 HOM Link to ClinVar
680489 670293 Benign not_provided . . HET Link to ClinVar
93334 99241 Likely_benign Maple_syrup_urine_disease
not_specified		 0.1172 0.08247 HET Link to ClinVar
680490 669927 Benign not_provided . . HOM Link to ClinVar
93341 99248 Benign/Likely_benign Maple_syrup_urine_disease
not_specified
not_provided		 . 0.05531 HET Link to ClinVar
93357 99264 Benign Maple_syrup_urine_disease
not_specified		 0.59895 0.61601 HOM Link to ClinVar
676107 670294 Benign not_provided . . HOM Link to ClinVar
93382 99289 Benign Maple_syrup_urine_disease
not_specified		 0.59935 0.61641 HOM Link to ClinVar
93386 99293 Benign/Likely_benign not_specified
not_provided		 0.3722 0.25739 HET Link to ClinVar
93387 99294 Benign/Likely_benign not_specified 0.58956 0.58566 HOM Link to ClinVar
93389 99296 Benign/Likely_benign not_specified . . HOM Link to ClinVar
680491 670031 Benign not_provided . . HOM Link to ClinVar
93343 99250 Benign Maple_syrup_urine_disease
not_specified		 0.59997 0.61701 HOM Link to ClinVar
440244 433895 Benign not_specified . 0.57328 HET Link to ClinVar
138927 142630 Benign Diamond-Blackfan_anemia
not_specified		 . 0.55871 HET Link to ClinVar
329400 349040 Benign Alternating_hemiplegia_of_childhood
Dystonia_12		 0.63742 0.71945 HET Link to ClinVar
329409 349042 Likely_benign Alternating_hemiplegia_of_childhood
Dystonia_12		 0.00345 0.00379 HET Link to ClinVar
157926 167773 Benign/Likely_benign Alternating_hemiplegia_of_childhood
Dystonia_12
not_specified
not_provided		 . 0.90156 HET Link to ClinVar
769011 705065 Benign not_provided . . HET Link to ClinVar
769013 705071 Likely_benign not_provided . . HOM Link to ClinVar
769014 705072 Benign not_provided . . HOM Link to ClinVar
683858 670042 Benign not_provided . . HET Link to ClinVar
683856 668887 Benign not_provided . . HET Link to ClinVar
260385 257139 Benign Ethylmalonic_encephalopathy
not_specified
not_provided		 0.19066 0.15236 HET Link to ClinVar
225976 227806 drug_response Platinum_compounds_response_-_Efficacy
cisplatin_response_-_Efficacy
oxaliplatin_response_-_Efficacy
platinum_response_-_Efficacy
carboplatin_response_-_Efficacy		 0.6834 0.73962 HET Link to ClinVar
257226 257140 Benign not_specified 0.04598 0.03494 HOM Link to ClinVar
439 15478 Benign AUBERGER_BLOOD_GROUP_POLYMORPHISM_Au(a)/Au(b) 0.27533 0.27037 HOM Link to ClinVar
329465 333754 Likely_benign Hermansky-Pudlak_syndrome . 0.04653 HET Link to ClinVar
329481 349968 Likely_benign Hermansky-Pudlak_syndrome . 0.0629 HET Link to ClinVar
329487 333794 Likely_benign Hermansky-Pudlak_syndrome . 0.04653 HET Link to ClinVar
134105 137844 Benign Osteosarcoma
Non-small_cell_lung_cancer
Xeroderma_pigmentosum
not_specified		 . 0.23662 HET Link to ClinVar
256018 257142 Benign Xeroderma_pigmentosum
not_specified		 0.28591 0.18231 HET Link to ClinVar
256016 257143 Benign not_specified . 0.63439 HET Link to ClinVar
135529 139268 not_provided not_specified 0.64019 0.63299 HET Link to ClinVar
134117 137856 Benign Xeroderma_pigmentosum
Xeroderma_pigmentosum,_group_D
not_specified		 0.37882 0.19449 HET Link to ClinVar
256021 257148 Benign Xeroderma_pigmentosum
not_specified		 0.58981 0.63618 HET Link to ClinVar
256020 257149 Benign not_specified 0.59573 0.63618 HET Link to ClinVar
225987 227807 drug_response cisplatin_response_-_Toxicity/ADR
Platinum_compounds_response_-_Toxicity/ADR
platinum_response_-_Toxicity/ADR		 0.32366 0.29513 HET Link to ClinVar
225945 227808 drug_response Xeroderma_pigmentosum
carboplatin_response_-_Efficacy,_Toxicity/ADR
cisplatin_response_-_Efficacy,_Toxicity/ADR
Platinum_compounds_response_-_Efficacy,_Toxicity/ADR
oxaliplatin_response_-_Efficacy,_Toxicity/ADR
platinum_response_-_Efficacy,_Toxicity/ADR		 0.50847 0.66893 HOM Link to ClinVar
669143 670052 Benign not_provided . . HOM Link to ClinVar
684130 670057 Benign not_provided . . HET Link to ClinVar
329553 349092 Likely_benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.01238 HET Link to ClinVar
329556 349095 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.77536 HOM Link to ClinVar
329574 333835 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.63798 HET Link to ClinVar
329594 333865 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.76098 HET Link to ClinVar
329596 349123 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . . HET Link to ClinVar
329609 349142 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.75839 HET Link to ClinVar
329610 333868 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . . HET Link to ClinVar
329617 333871 Likely_benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.15455 HET Link to ClinVar
329624 349153 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.76018 HET Link to ClinVar
329631 333881 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . . HET Link to ClinVar
329647 333893 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.75679 HET Link to ClinVar
329657 343865 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . . HET Link to ClinVar
329682 333923 Benign 3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant		 . 0.71066 HET Link to ClinVar
21709 34561 Benign 3-Methylglutaconic_aciduria_type_3
Optic_atrophy_and_cataract,_autosomal_dominant
not_specified
Optic_Atrophy,_Dominant
not_provided		 0.70759 0.76697 HET Link to ClinVar
262913 257151 Benign Branchiootorenal_syndrome_2
not_specified		 0.32055 0.29812 HOM Link to ClinVar
678453 669931 Benign not_provided . . HET Link to ClinVar
678454 670058 Benign not_provided . . HET Link to ClinVar
137381 141084 Benign not_specified . 0.0605 HET Link to ClinVar
774357 705107 Benign not_provided . . HET Link to ClinVar
99592 105481 Benign Leber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
not_provided		 0.1495 0.08846 HOM Link to ClinVar
329706 343885 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . . HOM Link to ClinVar
329713 343896 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.24221 HOM Link to ClinVar
329714 333943 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.27616 HOM Link to ClinVar
329716 333950 Likely_benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.06929 HOM Link to ClinVar
329717 349199 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.24301 HOM Link to ClinVar
329730 349205 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.27676 HOM Link to ClinVar
329733 343904 Likely_benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.06949 HOM Link to ClinVar
329739 350127 Likely_benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.06949 HOM Link to ClinVar
329741 343912 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.24321 HOM Link to ClinVar
329742 333976 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.57009 HOM Link to ClinVar
329744 349209 Likely_benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . . HOM Link to ClinVar
329748 350128 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . . HOM Link to ClinVar
329753 349210 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.27756 HOM Link to ClinVar
329758 350143 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.5641 HOM Link to ClinVar
329761 350150 Likely_benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.06949 HOM Link to ClinVar
329765 349215 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.23043 HOM Link to ClinVar
329768 333995 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.23023 HOM Link to ClinVar
329769 343926 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.23043 HOM Link to ClinVar
329777 349224 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.26697 HOM Link to ClinVar
329779 343931 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.21386 HOM Link to ClinVar
329781 334000 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.21386 HOM Link to ClinVar
329782 343933 Likely_benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.06969 HOM Link to ClinVar
329783 349226 Benign Leber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant		 . 0.21386 HOM Link to ClinVar
262481 257160 Benign not_specified 0.21603 0.20308 HET Link to ClinVar
262496 257162 Benign not_specified 0.5703 0.46466 HOM Link to ClinVar
262490 257168 Benign not_specified 0.35954 0.32149 HET Link to ClinVar
262489 257169 Benign not_specified 0.28868 0.16753 HET Link to ClinVar
262485 257171 Benign not_specified . 0.15216 HET Link to ClinVar
262486 257172 Benign not_specified 0.32609 0.30431 HET Link to ClinVar
262507 257179 Benign not_specified 0.18302 0.15336 HET Link to ClinVar
262504 257181 Benign not_specified 0.18395 0.15395 HET Link to ClinVar
262503 257182 Benign not_specified . 0.16813 HET Link to ClinVar
12945 27984 Benign,_association SECRETOR/NONSECRETOR_POLYMORPHISM
Vitamin_b12_plasma_level_quantitative_trait_locus_1		 0.38942 0.32169 HET Link to ClinVar
156440 166213 Benign Hyperferritinemia_cataract_syndrome
Neuroferritinopathy
Glycogen_storage_disease_0,_muscle
not_specified
sporadic_abdominal_aortic_aneurysm
not_provided		 0.49791 0.46066 HET Link to ClinVar
676132 670066 Benign not_provided . . HET Link to ClinVar
681676 670318 Benign not_provided . . HET Link to ClinVar
676131 670329 Benign not_provided . . HET Link to ClinVar
260834 257190 Benign/Likely_benign not_specified
Progressive_familial_heart_block		 0.29375 0.15036 HET Link to ClinVar
674828 669944 Benign not_provided . . HOM Link to ClinVar
780580 716597 Benign not_provided . . HET Link to ClinVar
496316 487954 Benign not_provided 0.70345 0.73822 HOM Link to ClinVar
496315 487955 Benign not_provided 0.7034 0.73822 HOM Link to ClinVar
138201 141904 Benign not_specified 0.00869 0.01018 HET Link to ClinVar
138200 141903 Benign not_specified
not_provided		 0.00957 0.00998 HET Link to ClinVar
95476 101375 Conflicting_interpretations_of_pathogenicity Epileptic_encephalopathy
Early_infantile_epileptic_encephalopathy_10
not_specified
not_provided		 0.00721 0.00539 HET Link to ClinVar
159801 169592 Benign not_specified
not_provided		 0.03367 0.04133 HET Link to ClinVar
667941 668937 Benign not_provided . . HET Link to ClinVar
95486 101385 Benign/Likely_benign History_of_neurodevelopmental_disorder
Early_infantile_epileptic_encephalopathy_10
not_specified
not_provided		 . 0.00659 HET Link to ClinVar
129846 135292 Likely_benign not_specified 0.94442 0.97404 HOM Link to ClinVar
129849 135295 Likely_benign not_specified 0.35175 0.31629 HET Link to ClinVar
129848 135294 Likely_benign not_specified 0.79186 0.86042 HET Link to ClinVar
129847 135293 Likely_benign not_specified 0.01243 0.02177 HET Link to ClinVar
44073 53241 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
not_provided		 0.00971 0.01118 HET Link to ClinVar
44079 53247 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.6057 0.47284 HOM Link to ClinVar
44044 53212 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.35882 0.32149 HET Link to ClinVar
44051 53219 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant
not_provided		 0.04041 0.05112 HET Link to ClinVar
44056 53224 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.77194 0.76118 HOM Link to ClinVar
44057 53225 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.44797 0.4391 HOM Link to ClinVar
44062 53230 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.59804 0.48443 HOM Link to ClinVar
44063 53231 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.87568 0.86462 HOM Link to ClinVar
44067 53235 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.20966 0.13199 HET Link to ClinVar
44075 53243 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.74795 0.68211 HET Link to ClinVar
257578 257195 Benign not_specified 0.74963 0.69449 HET Link to ClinVar
226747 231073 Benign not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.7508 HET Link to ClinVar
329955 350291 Likely_benign Nonsyndromic_Hearing_Loss,_Dominant 0.36905 0.248 HET Link to ClinVar
329958 349293 Benign Nonsyndromic_Hearing_Loss,_Dominant . 0.82508 HOM Link to ClinVar
380227 377725 Benign Hereditary_cancer-predisposing_syndrome
not_specified
not_provided		 0.05319 0.13838 HET Link to ClinVar
676483 670373 Benign not_provided . . HOM Link to ClinVar
676546 668946 Benign not_provided . . HET Link to ClinVar
679796 670018 Benign not_provided . . HET Link to ClinVar
676550 670382 Benign not_provided . . HET Link to ClinVar
380228 377776 Benign Hereditary_cancer-predisposing_syndrome
Colorectal_cancer_10
not_specified
not_provided		 0.04496 0.11841 HET Link to ClinVar
380221 377792 Benign not_specified
not_provided		 0.2659 0.28215 HET Link to ClinVar
258788 257197 Benign not_specified
not_provided		 0.57934 0.40835 HET Link to ClinVar
676551 670026 Benign not_provided . . HET Link to ClinVar
380229 379661 Benign not_specified
not_provided		 0.07638 0.10843 HET Link to ClinVar
371933 359002 Benign/Likely_benign Colorectal_cancer_10
not_specified
not_provided		 0.05689 0.12859 HET Link to ClinVar
676552 670028 Benign not_provided . . HET Link to ClinVar
560822 551952 Benign not_specified . . HET Link to ClinVar
259564 257199 Benign not_specified 0.99617 0.9984 HOM Link to ClinVar
680119 670032 Benign not_provided . . HOM Link to ClinVar
680118 670384 Benign not_provided . . HOM Link to ClinVar
680111 670385 Benign not_provided . . HOM Link to ClinVar
94018 99920 Benign Glutaric_aciduria,_type_2
not_specified
not_provided		 0.49803 0.41973 HOM Link to ClinVar
680110 668951 Benign not_provided . . HOM Link to ClinVar
683851 670041 Benign not_provided . . HOM Link to ClinVar
683849 670387 Benign not_provided . . HOM Link to ClinVar
680108 670392 Benign not_provided . . HOM Link to ClinVar
680106 668952 Benign not_provided . . HOM Link to ClinVar
369289 353518 Likely_benign Cortical_pulverulent_cataract . 0.64397 HET Link to ClinVar
773360 705210 Benign not_provided . . HET Link to ClinVar
402874 390308 Benign not_specified 0.80448 0.78714 HOM Link to ClinVar
402877 390462 Benign not_specified 0.32854 0.35104 HET Link to ClinVar
402878 390432 Benign not_specified . 0.39377 HOM Link to ClinVar
402879 390319 Benign not_specified 0.80533 0.83407 HET Link to ClinVar
403625 390465 Benign not_specified . . HET Link to ClinVar
769464 705230 Benign not_provided . . HET Link to ClinVar
769986 705231 Likely_benign not_provided . . HET Link to ClinVar
769988 705233 Likely_benign not_provided . . HET Link to ClinVar
329988 350305 Benign Familial_cold_autoinflammatory_syndrome . 0.42752 HOM Link to ClinVar
262531 257201 Benign Familial_cold_autoinflammatory_syndrome
not_specified		 . 0.42672 HET Link to ClinVar
403242 390434 Benign not_specified 0.84739 0.80631 HOM Link to ClinVar
262528 257206 Benign Familial_cold_autoinflammatory_syndrome
not_specified		 0.22944 0.25559 HET Link to ClinVar
330052 350336 Benign Familial_cold_autoinflammatory_syndrome . 0.78135 HET Link to ClinVar
130037 135483 Benign Spinocerebellar_ataxia_14
not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.94629 0.89637 HOM Link to ClinVar
130036 135482 Benign Spinocerebellar_ataxia_14
not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 . 0.32947 HET Link to ClinVar
330063 334232 Benign Spinocerebellar_ataxia_14
Spinocerebellar_Ataxia,_Dominant		 0.39669 0.33367 HET Link to ClinVar
167537 177983 Benign not_specified
Retinitis_Pigmentosa,_Dominant		 . 0.7532 HET Link to ClinVar
97793 103685 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59185 HET Link to ClinVar
97792 103684 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59265 HET Link to ClinVar
97794 103686 not_provided Hydatidiform_mole,_recurrent,_1 . . HET Link to ClinVar
97777 103669 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59265 HET Link to ClinVar
97778 103670 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59285 HET Link to ClinVar
97779 103671 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59285 HET Link to ClinVar
97782 103674 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59325 HET Link to ClinVar
97783 103675 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59325 HET Link to ClinVar
97784 103676 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59485 HET Link to ClinVar
97785 103677 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59265 HET Link to ClinVar
97788 103680 not_provided Hydatidiform_mole,_recurrent,_1 . 0.41693 HET Link to ClinVar
97789 103681 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59265 HET Link to ClinVar
97774 103666 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59245 HET Link to ClinVar
97769 103661 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59066 HET Link to ClinVar
97767 103659 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59006 HET Link to ClinVar
97766 103658 not_provided Hydatidiform_mole,_recurrent,_1 . 0.59006 HET Link to ClinVar
330156 334316 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1
not_specified		 0.5819 0.59006 HET Link to ClinVar
330158 344252 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1
not_specified		 0.58154 0.59045 HET Link to ClinVar
97764 103656 not_provided Hydatidiform_mole,_recurrent,_1 . 0.57668 HET Link to ClinVar
97765 103657 not_provided Hydatidiform_mole,_recurrent,_1 . 0.67292 HET Link to ClinVar
97763 103655 not_provided Hydatidiform_mole,_recurrent,_1 . 0.73942 HET Link to ClinVar
97752 103644 not_provided Hydatidiform_mole,_recurrent,_1 . 0.16134 HET Link to ClinVar
97742 103634 not_provided Hydatidiform_mole,_recurrent,_1 . 0.67792 HOM Link to ClinVar
97738 103630 not_provided Hydatidiform_mole,_recurrent,_1 . 0.41054 HOM Link to ClinVar
97728 103620 not_provided Hydatidiform_mole,_recurrent,_1 . 0.67851 HOM Link to ClinVar
287106 271343 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1
not_specified		 . 0.09085 HET Link to ClinVar
330172 349382 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1
not_specified		 . 0.18071 HET Link to ClinVar
330176 334358 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1
not_specified		 0.24098 0.28894 HET Link to ClinVar
330183 334365 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1
not_specified		 0.34043 0.35543 HOM Link to ClinVar
97894 103786 Benign Hydatidiform_mole,_recurrent,_1 0.4212 0.40555 HOM Link to ClinVar
97895 103787 not_provided Hydatidiform_mole,_recurrent,_1 . 0.19369 HET Link to ClinVar
97896 103788 not_provided Hydatidiform_mole,_recurrent,_1 . 0.18071 HET Link to ClinVar
97900 103792 not_provided Hydatidiform_mole,_recurrent,_1 0.05252 0.06929 HET Link to ClinVar
718578 728399 Likely_benign not_provided . . HET Link to ClinVar
257416 257209 Benign not_specified 0.76898 0.72664 HET Link to ClinVar
257413 257212 Benign not_specified 0.80832 0.71665 HET Link to ClinVar
257411 257214 Benign not_specified 0.79038 0.71765 HET Link to ClinVar
257428 257216 Benign not_specified 0.84671 0.82308 HET Link to ClinVar
257427 257217 Benign not_specified 0.7998 0.72484 HET Link to ClinVar
257426 257218 Benign not_specified 0.5425 0.38459 HET Link to ClinVar
257424 257220 Benign not_specified 0.78945 0.71346 HET Link to ClinVar
257423 257221 Benign not_specified . 0.74361 HET Link to ClinVar
257422 257222 Benign not_specified 0.8139 0.84265 HET Link to ClinVar
257421 257223 Benign not_specified . 0.90715 HET Link to ClinVar
257419 257225 Benign not_specified 0.79293 0.73243 HET Link to ClinVar
257418 257226 Benign not_specified . 0.84265 HET Link to ClinVar
167736 178100 Benign not_specified 0.98916 0.98043 HOM Link to ClinVar
31863 40523 Benign/Likely_benign not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.23461 0.0643 HET Link to ClinVar
31864 40524 not_provided not_provided 0.20573 0.19828 HET Link to ClinVar
31855 40515 Benign/Likely_benign Hypertrophic_cardiomyopathy
Familial_restrictive_cardiomyopathy
not_specified
Dilated_Cardiomyopathy,_Recessive
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
Nemaline_Myopathy,_Recessive
not_provided		 0.83146 0.8101 HET Link to ClinVar
36881 45542 Conflicting_interpretations_of_pathogenicity Cardiomyopathy
Primary_ciliary_dyskinesia
Primary_familial_hypertrophic_cardiomyopathy
not_specified
Nemaline_Myopathy,_Recessive
not_provided		 0.99997 1 HOM Link to ClinVar
43366 52536 Benign/Likely_benign Cardiomyopathy
Hypertrophic_cardiomyopathy
Primary_ciliary_dyskinesia
not_specified
Cardiovascular_phenotype
not_provided		 0.04615 0.02276 HET Link to ClinVar
369296 353525 Likely_benign Hypertrophic_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Recessive
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome		 1 1 HOM Link to ClinVar
769051 705259 Benign not_provided . . HET Link to ClinVar
769465 705264 Benign not_provided . . HET Link to ClinVar
770812 705266 Benign not_provided . . HET Link to ClinVar
769056 705276 Benign not_provided . . HOM Link to ClinVar
713237 728424 Likely_benign not_provided . . HET Link to ClinVar
330224 344295 Benign Spermatogenic_Failure . 0.86761 HOM Link to ClinVar
330225 349406 Benign Spermatogenic_Failure
not_specified		 0.76247 0.76777 HOM Link to ClinVar
769059 705290 Benign not_provided . . HET Link to ClinVar
769989 705298 Benign not_provided . . HET Link to ClinVar
286343 270580 Benign not_specified 0.24354 0.16174 HET Link to ClinVar
286342 270579 Benign not_specified 0.25303 0.16154 HET Link to ClinVar
402586 390451 Benign not_specified . . HOM Link to ClinVar
262230 257429 Benign not_specified
not_provided		 0.70216 0.65535 HOM Link to ClinVar
262238 257434 Benign not_specified 0.43117 0.30871 HET Link to ClinVar
262228 257443 Benign not_specified . . HET Link to ClinVar
337814 344725 Benign Spinocerebellar_Ataxia,_Dominant . 0.51298 HOM Link to ClinVar
337819 344729 Benign Spinocerebellar_Ataxia,_Dominant . 0.51378 HOM Link to ClinVar
337822 344733 Likely_benign Spinocerebellar_Ataxia,_Dominant . 0.09525 HET Link to ClinVar
337834 334872 Benign Spinocerebellar_ataxia_23
Spinocerebellar_Ataxia,_Dominant		 . 0.13019 HET Link to ClinVar
337846 350714 Benign Spinocerebellar_Ataxia,_Dominant . 0.628 HOM Link to ClinVar
130585 136031 Benign Spinocerebellar_ataxia_35
not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided		 0.9071 0.878 HET Link to ClinVar
337914 344788 Benign Spinocerebellar_ataxia_35
Spinocerebellar_Ataxia,_Dominant		 0.66165 0.57408 HOM Link to ClinVar
337920 344790 Likely_benign Spinocerebellar_Ataxia,_Dominant 0.0917 0.12999 HET Link to ClinVar
130584 136030 Benign Spinocerebellar_ataxia_35
not_specified
Spinocerebellar_Ataxia,_Dominant		 0.23451 0.32448 HET Link to ClinVar
791662 779964 Benign not_provided . . . Link to ClinVar
337941 350769 Benign Spinocerebellar_Ataxia,_Dominant 0.41753 0.51318 HET Link to ClinVar
129807 135253 Likely_benign not_specified . 0.86122 HOM Link to ClinVar
129806 135252 Likely_benign not_specified 0.63363 0.67372 HOM Link to ClinVar
129808 135254 Likely_benign not_specified 0.30984 0.377 HET Link to ClinVar
129809 135255 Likely_benign not_specified 0.29312 0.3774 HET Link to ClinVar
338028 344895 Benign Retinitis_Pigmentosa,_Recessive 0.68653 0.61302 HOM Link to ClinVar
771047 705420 Benign not_provided . . HET Link to ClinVar
14747 29786 drug_response azathioprine_response_-_Toxicity/ADR
Inosine_triphosphatase_deficiency
peginterferon_alfa-2b_and_ribavirin_response_-_Toxicity/ADR		 0.08863 0.05911 HET Link to ClinVar
261999 257339 Benign/Likely_benign not_specified
Corneal_Dystrophy,_Recessive		 . 0.15915 HET Link to ClinVar
261998 257340 Benign not_specified 0.44768 0.49421 HET Link to ClinVar
261997 257341 Benign/Likely_benign not_specified
Corneal_Dystrophy,_Recessive		 0.0916 0.04852 HET Link to ClinVar
261996 257342 Benign/Likely_benign not_specified
Corneal_Dystrophy,_Recessive		 0.08513 0.04513 HET Link to ClinVar
261994 257343 Benign/Likely_benign not_specified
Corneal_Dystrophy,_Recessive		 . 0.04792 HET Link to ClinVar
262002 257345 Benign/Likely_benign not_specified
Corneal_Dystrophy,_Recessive		 0.1574 0.16633 HET Link to ClinVar
262001 257346 Benign/Likely_benign not_specified
Corneal_Dystrophy,_Recessive		 . 0.47983 HET Link to ClinVar
338263 344973 Likely_benign Corneal_Dystrophy,_Recessive . 0.45028 HET Link to ClinVar
193506 190670 Benign Pigmentary_pallidal_degeneration
not_specified
not_provided		 0.12172 0.08686 HET Link to ClinVar
96526 102420 Benign Pigmentary_pallidal_degeneration
not_specified
not_provided		 . 0.87919 HET Link to ClinVar
13397 28436 Benign Alzheimer_disease,_early-onset,_susceptibility_to
Aphasia,_primary_progressive,_susceptibility_to
Prion_disease,_susceptibility_to
Genetic_prion_diseases
Huntington_disease-like_1
not_specified		 0.30778 0.26657 HET Link to ClinVar
338858 345515 Benign Hypogonadism_with_anosmia
Kallmann_syndrome_3
not_provided		 0.74352 0.72324 HOM Link to ClinVar
338859 345516 Benign Hypogonadism_with_anosmia
Kallmann_syndrome_3
not_provided		 0.39802 0.44649 HOM Link to ClinVar
339170 351325 Uncertain_significance Kindler's_syndrome . . HET Link to ClinVar
339178 351333 Benign Kindler's_syndrome . 1 HOM Link to ClinVar
260868 257380 Benign Kindler's_syndrome
not_specified		 0.3683 0.39577 HET Link to ClinVar
339209 336173 Benign Kindler's_syndrome 0.10236 0.11641 HET Link to ClinVar
339213 345924 Uncertain_significance Kindler's_syndrome . . HET Link to ClinVar
339224 350337 Likely_benign Kindler's_syndrome 0.07091 0.05112 HOM Link to ClinVar
339230 351350 Likely_benign Kindler's_syndrome 0.08318 0.08307 HOM Link to ClinVar
339234 351354 Likely_benign Kindler's_syndrome 0.08481 0.08826 HOM Link to ClinVar
260864 257384 Benign Kindler's_syndrome
not_specified		 0.52428 0.52456 HOM Link to ClinVar
260863 257385 Benign Kindler's_syndrome
not_specified		 0.63558 0.70847 HOM Link to ClinVar
339257 350349 Benign Kindler's_syndrome . 0.42692 HET Link to ClinVar
339259 336223 Benign Kindler's_syndrome . 0.70407 HOM Link to ClinVar
195136 192297 Benign not_specified 0.67231 0.74601 HET Link to ClinVar
196322 193483 Benign SHORT_STATURE,_FACIAL_DYSMORPHISM,_AND_SKELETAL_ANOMALIES_WITH_OR_WITHOUT_CARDIAC_ANOMALIES
not_specified		 0.67432 0.76677 HET Link to ClinVar
126883 132395 association Calcium_oxalate_urolithiasis . 0.32528 HET Link to ClinVar
126886 132398 association Calcium_oxalate_urolithiasis . 0.3105 HET Link to ClinVar
126888 132400 association Calcium_oxalate_urolithiasis . 0.30391 HET Link to ClinVar
126889 132401 association Calcium_oxalate_urolithiasis . 0.29912 HET Link to ClinVar
129899 135345 Benign/Likely_benign Seizures
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive		 0.16853 0.1871 HET Link to ClinVar
129901 135347 Benign/Likely_benign Seizures
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided		 0.12164 0.13498 HET Link to ClinVar
129908 135354 Benign/Likely_benign Seizures
Early_infantile_epileptic_encephalopathy_12
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided		 0.27177 0.21226 HET Link to ClinVar
129910 135356 Benign Seizures
Early_infantile_epileptic_encephalopathy_12
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided		 0.6155 0.61322 HET Link to ClinVar
129912 135358 Benign Early_infantile_epileptic_encephalopathy_12
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided		 0.94079 0.89697 HOM Link to ClinVar
129914 135360 Benign Seizures
Early_infantile_epileptic_encephalopathy_12
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided		 0.29695 0.22863 HET Link to ClinVar
339539 350478 Benign Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive . 0.80451 HOM Link to ClinVar
339540 351533 Benign Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive . 0.60943 HOM Link to ClinVar
339544 351538 Likely_benign Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive . . HET Link to ClinVar
339548 336462 Benign Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive . 0.53594 HOM Link to ClinVar
339552 350485 Benign Auriculocondylar_syndrome_2
Auriculocondylar_syndrome		 0.59654 0.47145 HOM Link to ClinVar
542731 533432 Benign not_provided . 0.4978 HET Link to ClinVar
261060 257305 Benign not_specified . 0.26538 HET Link to ClinVar
337715 344656 Benign Arteriohepatic_dysplasia
Isolated_Nonsyndromic_Congenital_Heart_Disease		 . 0.47424 HET Link to ClinVar
337723 344672 Benign Arteriohepatic_dysplasia
Isolated_Nonsyndromic_Congenital_Heart_Disease		 . 0.22165 HET Link to ClinVar
337729 349651 Benign Arteriohepatic_dysplasia
Isolated_Nonsyndromic_Congenital_Heart_Disease		 . . HET Link to ClinVar
337735 344686 Benign Arteriohepatic_dysplasia
Isolated_Nonsyndromic_Congenital_Heart_Disease		 . . HET Link to ClinVar
42478 51648 Benign Arteriohepatic_dysplasia
not_specified
Cardiovascular_phenotype
Isolated_Nonsyndromic_Congenital_Heart_Disease		 0.23829 0.18011 HET Link to ClinVar
137595 141298 Benign Arteriohepatic_dysplasia
not_specified
Cardiovascular_phenotype
Isolated_Nonsyndromic_Congenital_Heart_Disease		 0.65919 0.71266 HET Link to ClinVar
255555 257308 Benign not_specified . . HET Link to ClinVar
143063 152781 Benign Arteriohepatic_dysplasia
not_specified
Cardiovascular_phenotype
Isolated_Nonsyndromic_Congenital_Heart_Disease
not_provided		 0.45408 0.42332 HET Link to ClinVar
213524 210341 Benign Arteriohepatic_dysplasia
not_specified
Isolated_Nonsyndromic_Congenital_Heart_Disease		 0.43754 0.45767 HET Link to ClinVar
536536 534015 Likely_benign Alagille_syndrome_1 . 0.51378 HET Link to ClinVar
683425 670439 Benign not_provided . . HET Link to ClinVar
669468 670197 Benign not_provided . . HET Link to ClinVar
129694 135140 Benign not_specified
not_provided		 0.0189 0.01058 HET Link to ClinVar
683429 669030 Benign not_provided . . HOM Link to ClinVar
257616 257325 Benign not_specified
not_provided		 0.24629 0.20587 HET Link to ClinVar
257615 257326 Benign not_specified
not_provided		 . 0.7506 HOM Link to ClinVar
257617 257329 Benign not_specified
not_provided		 0.0564 0.02256 HET Link to ClinVar
380041 379676 Benign not_specified
not_provided		 0.10407 0.08526 HET Link to ClinVar
684256 670201 Benign not_provided . . HOM Link to ClinVar
262249 257331 Benign not_specified
not_provided		 . 0.3119 HET Link to ClinVar
684258 670141 Benign not_provided . . HET Link to ClinVar
337781 350687 Benign Congenital_dyserythropoietic_anemia . 0.77197 HOM Link to ClinVar
95379 101278 Benign Congenital_dyserythropoietic_anemia
not_specified		 0.97473 0.91633 HOM Link to ClinVar
683996 669034 Benign not_provided . . HET Link to ClinVar
679115 669036 Benign not_provided . . HET Link to ClinVar
384713 377963 Likely_benign not_specified 0.01449 0.00459 HET Link to ClinVar
337852 334892 Benign Atypical_hemolytic_uremic_syndrome . 0.77596 HOM Link to ClinVar
337862 344766 Benign Atypical_hemolytic_uremic_syndrome . 0.16713 HET Link to ClinVar
337864 334901 Benign Atypical_hemolytic_uremic_syndrome . 0.30212 HET Link to ClinVar
337883 334922 Benign Atypical_hemolytic_uremic_syndrome 0.19969 0.16454 HET Link to ClinVar
12718 27757 Conflicting_interpretations_of_pathogenicity Atypical_hemolytic-uremic_syndrome_6
Atypical_hemolytic_uremic_syndrome
not_provided		 0.00343 0.0028 HET Link to ClinVar
5635 20674 Conflicting_interpretations_of_pathogenicity Age-related_macular_degeneration_11 0.25489 0.21226 HET Link to ClinVar
402569 390477 Benign not_specified . 0.21166 HET Link to ClinVar
337948 349766 Likely_benign Posterior_Polymorphous_Corneal_Dystrophy . 0.02216 HET Link to ClinVar
337984 350785 Likely_benign Polyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract . 0.10383 HET Link to ClinVar
128255 133704 Benign Polyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract
not_specified		 0.46964 0.33606 HOM Link to ClinVar
337999 335074 Benign Polyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract
not_provided		 . . HOM Link to ClinVar
338004 349784 Benign Polyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract . 0.45627 HOM Link to ClinVar
138405 142108 Benign/Likely_benign Hypertrophic_cardiomyopathy
not_specified		 . 0.05391 HET Link to ClinVar
678521 670158 Benign not_provided . . HET Link to ClinVar
36654 45316 Benign Cardiomyopathy
Familial_hypertrophic_cardiomyopathy_1
not_specified		 0.01137 0.00599 HET Link to ClinVar
191741 190018 Uncertain_significance Familial_hypertrophic_cardiomyopathy_1
not_provided		 2e-05 . HET Link to ClinVar
683580 656627 Benign not_provided . . HOM Link to ClinVar
133599 137338 not_provided not_specified 0.99998 1 HOM Link to ClinVar
338113 349835 Benign C-like_syndrome
not_specified		 0.41833 0.40575 HET Link to ClinVar
338120 345017 Benign C-like_syndrome 0.40651 0.39996 HET Link to ClinVar
338123 345023 Benign C-like_syndrome . 0.39976 HET Link to ClinVar
338126 335208 Benign C-like_syndrome . 0.42891 HET Link to ClinVar
338165 345058 Benign Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified		 0.48356 0.58486 HOM Link to ClinVar
338170 345062 Benign Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified		 0.58058 0.75579 HOM Link to ClinVar
338171 335243 Benign Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified		 0.57922 0.75579 HOM Link to ClinVar
338175 335245 Benign Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified		 . 0.71406 HOM Link to ClinVar
338180 349870 Benign Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified		 0.57372 0.74261 HOM Link to ClinVar
338197 350898 Benign Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1 . 0.80471 HOM Link to ClinVar
338201 345089 Benign Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1 . . HOM Link to ClinVar
670951 670166 Benign not_provided . . HOM Link to ClinVar
683867 669066 Benign not_provided . . HOM Link to ClinVar
338286 349903 Benign Hypermethioninemia . 0.67712 HOM Link to ClinVar
255474 257352 Benign not_specified
not_provided		 . 0.66434 HET Link to ClinVar
510873 507152 Benign not_specified 0.43246 0.39677 HET Link to ClinVar
256716 257356 Benign Brachydactyly
Acromesomelic_Dysplasia
Symphalangism-brachydactyly_syndrome
Chondrodysplasia
Fibular_hypoplasia_and_complex_brachydactyly
not_specified		 . 0.38399 HET Link to ClinVar
256712 257358 Benign Brachydactyly
Acromesomelic_Dysplasia
Symphalangism-brachydactyly_syndrome
Chondrodysplasia
Fibular_hypoplasia_and_complex_brachydactyly
not_specified		 0.47435 0.5611 HET Link to ClinVar
8390 23429 Benign Brachydactyly
Osteoarthritis_of_hip
Acromesomelic_Dysplasia
Symphalangism-brachydactyly_syndrome
Chondrodysplasia
Fibular_hypoplasia_and_complex_brachydactyly		 . 0.54653 HET Link to ClinVar
671453 669101 Benign not_provided . . HET Link to ClinVar
708475 728625 Benign not_provided . . HET Link to ClinVar
683687 656633 Benign not_provided . . HOM Link to ClinVar
770815 778680 Likely_benign not_provided . . HET Link to ClinVar
402430 390390 Benign not_specified 0.50618 0.43131 HET Link to ClinVar
402431 390456 Benign not_specified 0.50762 0.4347 HET Link to ClinVar
402433 390457 Benign not_specified 0.05729 0.05132 HET Link to ClinVar
402434 390480 Benign not_specified 0.46237 0.4351 HET Link to ClinVar
338393 335418 Benign Multicentric_osteolysis_nephropathy . . HET Link to ClinVar
775648 705487 Benign not_provided . . HET Link to ClinVar
775649 778598 Benign not_provided . . HET Link to ClinVar
775650 705488 Benign not_provided . . HET Link to ClinVar
683545 669103 Benign not_provided . . HET Link to ClinVar
671113 669121 Benign not_provided . . HET Link to ClinVar
137602 141305 Benign Familial_hypertrophic_cardiomyopathy_17
not_specified
Cardiovascular_phenotype
not_provided		 0.84495 0.85423 HET Link to ClinVar
676906 670492 Benign not_provided . . HET Link to ClinVar
676907 670262 Benign not_provided . . HET Link to ClinVar
676908 670209 Benign not_provided . . HET Link to ClinVar
674363 670264 Benign not_provided . . HET Link to ClinVar
674364 670271 Benign not_provided . . HET Link to ClinVar
676879 669133 Benign not_provided . . HOM Link to ClinVar
676881 670495 Benign not_provided . . HOM Link to ClinVar
676882 670274 Benign not_provided . . HOM Link to ClinVar
676884 669135 Benign not_provided . . HOM Link to ClinVar
676886 670497 Benign not_provided . . HOM Link to ClinVar
338448 335470 Likely_benign Maturity_onset_diabetes_mellitus_in_young
Hyperinsulinism,_Dominant		 . 0.57129 HOM Link to ClinVar
402340 390343 Benign not_specified 0.99554 0.98223 HOM Link to ClinVar
444117 437771 Benign Diabetes_mellitus_type_2 . 0.16154 HET Link to ClinVar
444116 437780 Benign Diabetes_mellitus_type_2 . 0.2486 HET Link to ClinVar
444120 437781 Benign Diabetes_mellitus_type_2 . 0.41733 HOM Link to ClinVar
444112 437782 Benign Diabetes_mellitus_type_2 . . HET Link to ClinVar
444106 437783 Benign Diabetes_mellitus_type_2 . 0.29593 HET Link to ClinVar
444111 437784 Benign Diabetes_mellitus_type_2 . 0.80371 HOM Link to ClinVar
444113 437785 Benign Diabetes_mellitus_type_2 . 0.49501 HET Link to ClinVar
338513 351036 Benign Combined_deficiency_of_sialidase_AND_beta_galactosidase 0.58237 0.38419 HET Link to ClinVar
338520 351042 Likely_benign Combined_deficiency_of_sialidase_AND_beta_galactosidase . 0.01558 HET Link to ClinVar
683633 670283 Benign not_provided . . HET Link to ClinVar
683634 670506 Benign not_provided . . HET Link to ClinVar
558867 549810 Benign not_provided . . HET Link to ClinVar
338535 345347 Benign Combined_deficiency_of_sialidase_AND_beta_galactosidase
not_specified
not_provided		 0.66018 0.67832 HET Link to ClinVar
338538 351057 Benign Combined_deficiency_of_sialidase_AND_beta_galactosidase
not_specified
not_provided		 0.66076 0.67991 HET Link to ClinVar
671990 670285 Benign not_provided . . HET Link to ClinVar
13634 28673 association High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_9 . 0.3143 HET Link to ClinVar
130810 136255 Likely_benign not_specified 0.8493 0.77776 HOM Link to ClinVar
130807 136252 Benign not_specified 0.33129 0.1857 HET Link to ClinVar
130795 136240 Likely_benign not_specified 0.89384 0.85982 HOM Link to ClinVar
338546 350025 Likely_benign Metaphyseal_anadysplasia 0.03496 0.03275 HET Link to ClinVar
338554 351068 Benign Metaphyseal_anadysplasia 0.43608 0.26058 HET Link to ClinVar
282093 266330 Benign Metaphyseal_anadysplasia
Metaphyseal_anadysplasia_2
not_specified		 . 0.83027 HOM Link to ClinVar
285363 269600 Benign Metaphyseal_anadysplasia
not_specified		 0.47076 0.40595 HOM Link to ClinVar
338562 350030 Benign Metaphyseal_anadysplasia 0.4329 0.25938 HET Link to ClinVar
338563 345359 Benign Metaphyseal_anadysplasia . 0.16374 HET Link to ClinVar
475656 470904 Benign Early_infantile_epileptic_encephalopathy_34 0.03532 0.03215 HET Link to ClinVar
475658 470416 Benign Early_infantile_epileptic_encephalopathy_34 0.03561 0.03315 HET Link to ClinVar
475640 469378 Benign Early_infantile_epileptic_encephalopathy_34 0.03515 0.03295 HET Link to ClinVar
475644 471417 Benign Early_infantile_epileptic_encephalopathy_34 0.0454 0.03095 HET Link to ClinVar
338569 350035 Benign Immunodeficiency_with_hyper_IgM_type_3
not_specified
Immunodeficiency_with_Hyper-IgM		 0.75273 0.77117 HET Link to ClinVar
338576 335608 Benign/Likely_benign Immunodeficiency_with_hyper_IgM_type_3
not_specified
Immunodeficiency_with_Hyper-IgM		 0.01706 0.01597 HET Link to ClinVar
338624 351090 Uncertain_significance Arterial_tortuosity_syndrome . 0.00379 HET Link to ClinVar
667995 670247 Benign not_provided . . HOM Link to ClinVar
261263 257369 Benign not_specified
SALL4-Related_Spectrum_Disorders		 . 0.04972 HET Link to ClinVar
261260 257372 Benign not_specified
SALL4-Related_Spectrum_Disorders		 0.35783 0.38199 HET Link to ClinVar
261259 257373 Benign Duane-radial_ray_syndrome
not_specified
SALL4-Related_Spectrum_Disorders		 . 0.35883 HET Link to ClinVar
261258 257374 Benign not_specified
SALL4-Related_Spectrum_Disorders		 0.25225 0.20927 HET Link to ClinVar
261264 257377 Benign not_specified
SALL4-Related_Spectrum_Disorders		 0.99651 0.9974 HOM Link to ClinVar
338789 351180 Benign Infantile_hypercalcemia . 0.61062 HOM Link to ClinVar
338797 335826 Benign Infantile_hypercalcemia . 0.21665 HOM Link to ClinVar
338810 351190 Benign Infantile_hypercalcemia . 0.1887 HOM Link to ClinVar
338831 350152 Benign Infantile_hypercalcemia
Idiopathic_hypercalcemia_of_infancy
not_specified		 0.49236 0.45807 HOM Link to ClinVar
667564 670253 Benign not_provided . . HOM Link to ClinVar
667563 669189 Benign not_provided . . HOM Link to ClinVar
338868 345596 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency . 0.39697 HOM Link to ClinVar
338875 351214 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency 0.37883 0.29513 HOM Link to ClinVar
338876 351217 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency 0.4111 0.3133 HOM Link to ClinVar
338877 335894 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency 0.41447 0.3141 HOM Link to ClinVar
338879 351218 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency
Phosphoenolpyruvate_carboxykinase_deficiency,_cytosolic		 0.84626 0.84605 HOM Link to ClinVar
338882 345601 Likely_benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency 0.09257 0.05771 HET Link to ClinVar
338889 345602 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency
Phosphoenolpyruvate_carboxykinase_deficiency,_cytosolic		 0.75474 0.78694 HET Link to ClinVar
338898 351230 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency . 0.42432 HOM Link to ClinVar
259537 257378 Benign not_specified 0.41675 0.41693 HET Link to ClinVar
338947 335929 Benign Amyotrophic_Lateral_Sclerosis,_Dominant
Spinal_Muscular_Atrophy,_Dominant		 0.222 0.18031 HET Link to ClinVar
338974 350203 Benign Amyotrophic_Lateral_Sclerosis,_Dominant
Spinal_Muscular_Atrophy,_Dominant		 . . HOM Link to ClinVar
339005 350221 Benign Amyotrophic_Lateral_Sclerosis,_Dominant
Spinal_Muscular_Atrophy,_Dominant		 0.42719 0.48323 HET Link to ClinVar
339006 350223 Benign Amyotrophic_Lateral_Sclerosis,_Dominant
Spinal_Muscular_Atrophy,_Dominant		 0.25469 0.20907 HET Link to ClinVar
339050 336021 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant 0.50207 0.47444 HET Link to ClinVar
339081 345794 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.53934 HET Link to ClinVar
339087 350266 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.20447 HET Link to ClinVar
339089 351305 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . 0.39297 HET Link to ClinVar
197681 194842 Benign not_specified 0.54733 0.64437 HET Link to ClinVar
136462 140165 Benign not_specified 0.00331 0.001 HET Link to ClinVar
506081 497338 Benign not_specified 0.46835 0.42472 HOM Link to ClinVar
258413 257414 Benign not_specified 0.18882 0.22304 HET Link to ClinVar
258415 257416 Benign Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified		 0.91983 0.93331 HET Link to ClinVar
258417 257418 Benign Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified		 0.68695 0.70986 HET Link to ClinVar
339318 346001 Benign Multiple_Epiphyseal_Dysplasia,_Dominant . 0.24561 HOM Link to ClinVar
339320 351403 Benign Multiple_Epiphyseal_Dysplasia,_Dominant . 0.24301 HOM Link to ClinVar
668093 670560 Benign not_provided . . HOM Link to ClinVar
93428 99335 Benign Seizures
Nicotine_addiction,_protection_against
not_specified
not_provided		 0.47498 0.35184 HOM Link to ClinVar
93427 99334 Benign Seizures
Nicotine_addiction,_protection_against
not_specified
not_provided		 . 0.32348 HOM Link to ClinVar
93425 99332 Benign Seizures
Epilepsy,_nocturnal_frontal_lobe,_type_1
not_specified		 0.93575 0.87081 HOM Link to ClinVar
93424 99331 Benign Seizures
Epilepsy,_nocturnal_frontal_lobe,_type_1
not_specified		 . 0.73383 HOM Link to ClinVar
128750 134199 Benign Seizures
not_specified
not_provided		 0.91955 0.86362 HOM Link to ClinVar
128749 134198 Benign Seizures
not_specified
not_provided		 0.83528 0.75719 HOM Link to ClinVar
668092 670287 Benign not_provided . . HOM Link to ClinVar
670759 670577 Benign not_provided . . HOM Link to ClinVar
679895 669204 Benign not_provided . . HOM Link to ClinVar
679894 670584 Benign not_provided . . HOM Link to ClinVar
21779 34631 Benign Seizures
Benign_familial_neonatal_seizures_1
KCNQ2-Related_Disorders
not_specified
not_provided		 0.63724 0.59045 HET Link to ClinVar
498785 490209 Benign not_specified . . HET Link to ClinVar
675061 669223 Benign not_provided . . HET Link to ClinVar
682049 670375 Benign not_provided . . HET Link to ClinVar
682047 669227 Benign not_provided . . HET Link to ClinVar
682046 670315 Benign not_provided . . HET Link to ClinVar
682045 670376 Benign not_provided . . HET Link to ClinVar
670764 670390 Benign not_provided . . HET Link to ClinVar
683726 670322 Benign not_provided . . HET Link to ClinVar
668925 669249 Benign not_provided . . HET Link to ClinVar
680018 670338 Benign not_provided . . HET Link to ClinVar
680017 670597 Benign not_provided . . HET Link to ClinVar
379689 379761 Benign Seizures
not_specified
not_provided		 0.57098 0.59165 HET Link to ClinVar
380779 378443 Benign Seizures
not_specified
not_provided		 0.13538 0.14018 HET Link to ClinVar
668129 669259 Benign not_provided . . HET Link to ClinVar
680009 670349 Benign not_provided . . HET Link to ClinVar
496489 488061 Benign not_provided 0.24911 0.29373 HET Link to ClinVar
496488 487850 Benign not_provided 0.66482 0.61162 HOM Link to ClinVar
403398 390347 Benign not_specified
not_provided		 0.74863 0.71825 HOM Link to ClinVar
403400 390350 Benign not_specified
not_provided		 0.74108 0.69609 HOM Link to ClinVar
403401 390482 Benign not_specified
not_provided		 0.76529 0.71805 HOM Link to ClinVar
403402 390459 Benign not_specified
not_provided		 0.75473 0.73682 HOM Link to ClinVar
403404 390461 Benign Dyskeratosis_congenita,_autosomal_recessive,_5
not_specified		 0.9384 0.96546 HOM Link to ClinVar
375482 362292 association Chronic_osteomyelitis 0.17504 0.26518 HET Link to ClinVar
679297 669275 Benign not_provided . . HOM Link to ClinVar
339415 351455 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . 0.27616 HET Link to ClinVar
770004 778592 Benign not_provided . . . Link to ClinVar
339463 351479 Likely_benign Retinitis_Pigmentosa,_Dominant 0.20744 0.09485 HET Link to ClinVar
339483 336423 Likely_benign Retinitis_Pigmentosa,_Dominant 0.13183 0.15855 HET Link to ClinVar
339492 350449 Likely_benign Retinitis_Pigmentosa,_Dominant 0.1332 0.07268 HET Link to ClinVar
774533 705627 Benign not_provided . . HET Link to ClinVar
782067 717163 Benign not_provided . . HET Link to ClinVar
586762 577888 Benign not_provided . . HET Link to ClinVar
586760 577890 Benign not_provided 0.28848 0.29133 HET Link to ClinVar
586758 577892 Benign not_provided 0.29339 0.30411 HET Link to ClinVar
7288 22327 risk_factor Hepatitis_b_virus,_susceptibility_to 0.10539 0.11861 HET Link to ClinVar
775442 705659 Benign not_provided . . HET Link to ClinVar
402970 390483 Benign not_specified 0.43007 0.4353 HET Link to ClinVar
339698 351592 Benign Inflammatory_bowel_disease 0.63616 0.56849 HET Link to ClinVar
339709 346315 Benign Inflammatory_bowel_disease . 0.5651 HET Link to ClinVar
402963 390403 Benign not_specified 0.76422 0.84225 HOM Link to ClinVar
339716 346324 Likely_benign Long_QT_syndrome
Romano-Ward_syndrome
Familial_atrial_fibrillation		 . 0.10663 HET Link to ClinVar
339721 336618 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome		 . 0.67612 HET Link to ClinVar
339722 346327 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome		 . 0.45128 HET Link to ClinVar
339732 351613 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome		 . 1 HOM Link to ClinVar
339746 336627 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome		 . . HOM Link to ClinVar
339751 336636 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome		 . 0.49361 HET Link to ClinVar
339764 336663 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome		 . 0.44808 HET Link to ClinVar
339769 346347 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome		 . 0.41214 HET Link to ClinVar
132651 136399 Benign Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
Hearing_loss,_noise-induced,_susceptibility_to
not_specified
Cardiovascular_phenotype
not_provided		 0.64771 0.67392 HET Link to ClinVar
671896 670353 Benign not_provided . . HET Link to ClinVar
675606 669293 Benign not_provided . . HET Link to ClinVar
137976 141679 Benign not_specified . 0.99381 HOM Link to ClinVar
258180 257452 Benign Familial_platelet_disorder_with_associated_myeloid_malignancy
not_specified		 0.60031 0.37061 HOM Link to ClinVar
258186 257457 Benign Familial_platelet_disorder_with_associated_myeloid_malignancy
not_specified		 1 1 HOM Link to ClinVar
44088 53256 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.16824 0.13538 HET Link to ClinVar
44084 53252 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.21609 0.1901 HET Link to ClinVar
339915 350652 Benign Holocarboxylase_synthetase_deficiency . 0.35244 HET Link to ClinVar
256033 257460 Likely_benign Holocarboxylase_synthetase_deficiency
not_specified		 0.02775 0.02356 HET Link to ClinVar
676139 670612 Benign not_provided . . HET Link to ClinVar
256035 257461 Benign not_specified
not_provided		 . 0.38299 HET Link to ClinVar
256034 257463 Benign not_specified 0.56325 0.6276 HET Link to ClinVar
92915 98822 Benign/Likely_benign Holocarboxylase_synthetase_deficiency
not_specified		 . . HET Link to ClinVar
256037 257464 Benign not_specified 0.5863 0.5597 HET Link to ClinVar
680600 670360 Benign not_provided . . HET Link to ClinVar
137552 141255 Benign Holocarboxylase_synthetase_deficiency
not_specified		 . 0.26098 HET Link to ClinVar
339982 351758 Benign Holocarboxylase_synthetase_deficiency . 0.25499 HET Link to ClinVar
679843 670422 Benign not_provided . . HET Link to ClinVar
204008 200401 Pathogenic Inborn_genetic_diseases
Mental_retardation,_autosomal_dominant_7		 . . HET Link to ClinVar
681326 670625 Benign not_provided . . HET Link to ClinVar
679364 670431 Benign not_provided . . HET Link to ClinVar
668911 670629 Benign not_provided . . HET Link to ClinVar
339990 350694 Benign Popliteal_pterygium_syndrome . 0.41733 HOM Link to ClinVar
339992 346491 Benign Popliteal_pterygium_syndrome . 0.43171 HOM Link to ClinVar
339999 350704 Benign Popliteal_pterygium_syndrome . 0.4379 HOM Link to ClinVar
340006 351774 Benign Popliteal_pterygium_syndrome . 0.76917 HOM Link to ClinVar
261351 257465 Benign Popliteal_pterygium_syndrome
not_specified		 0.45312 0.44549 HOM Link to ClinVar
261350 257466 Benign Popliteal_pterygium_syndrome
not_specified		 0.96519 0.95687 HOM Link to ClinVar
261349 257467 Benign Popliteal_pterygium_syndrome
not_specified		 0.60198 0.53095 HOM Link to ClinVar
261348 257468 Benign Popliteal_pterygium_syndrome
not_specified		 0.44337 0.4401 HOM Link to ClinVar
261347 257469 Benign Popliteal_pterygium_syndrome
not_specified		 0.45174 0.4401 HOM Link to ClinVar
261346 257470 Benign Popliteal_pterygium_syndrome
not_specified		 0.41258 0.38419 HOM Link to ClinVar
46089 55254 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.2358 0.26897 HET Link to ClinVar
46129 55294 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.16268 0.24121 HOM Link to ClinVar
46121 55286 Benign/Likely_benign not_specified
Nonsyndromic_Hearing_Loss,_Recessive		 0.48773 0.61841 HOM Link to ClinVar
672235 669323 Benign not_provided . . HET Link to ClinVar
683312 670378 Benign not_provided . . HET Link to ClinVar
668732 669335 Benign not_provided . . HET Link to ClinVar
678456 670447 Benign not_provided . . HET Link to ClinVar
256010 257472 Benign Congenital_cataract
not_specified
not_provided		 0.5404 0.5 HET Link to ClinVar
340112 336903 Likely_benign Congenital_cataract . 0.10663 HET Link to ClinVar
586586 577895 Benign Seizures
not_provided		 0.80005 0.72544 HOM Link to ClinVar
586585 577896 Benign Seizures
Epileptic_encephalopathy,_early_infantile,_30
not_provided		 0.89001 0.83067 HOM Link to ClinVar
586588 577899 Benign Seizures
not_provided		 0.28127 0.16653 HET Link to ClinVar
495855 487965 Benign/Likely_benign not_provided 0.00221 . HET Link to ClinVar
128338 133787 Benign not_specified 0.20799 0.13319 HOM Link to ClinVar
803633 792010 Benign Polyglandular_autoimmune_syndrome,_type_1 . . HOM Link to ClinVar
128336 133785 Benign not_specified 0.37799 0.35623 HET Link to ClinVar
128337 133786 Benign not_specified 0.46107 0.53035 HOM Link to ClinVar
340134 351837 Likely_benign Leukocyte_adhesion_deficiency . 0.15835 HET Link to ClinVar
100752 106617 not_provided Leukocyte_adhesion_deficiency_type_1 . 0.19429 HET Link to ClinVar
340155 346638 Benign Leukocyte_adhesion_deficiency
not_specified		 0.68883 0.76298 HOM Link to ClinVar
100746 106611 Benign Leukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1
not_specified		 0.23067 0.19908 HET Link to ClinVar
100745 106610 Benign Leukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1		 0.99994 1 HOM Link to ClinVar
100765 106630 not_provided Leukocyte_adhesion_deficiency_type_1 0.23505 0.20727 HET Link to ClinVar
100761 106626 Benign Leukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1
not_specified		 0.24285 0.22304 HET Link to ClinVar
100756 106621 Likely_benign Leukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1		 . 0.13918 HET Link to ClinVar
340172 350811 Benign/Likely_benign Leukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1		 0.02343 0.04712 HET Link to ClinVar
377981 378485 Benign not_specified 0.07461 0.10883 HET Link to ClinVar
803634 792011 Benign Leukocyte_adhesion_deficiency_type_1 . . HOM Link to ClinVar
100753 106618 Benign Leukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1		 0.2285 0.21306 HET Link to ClinVar
518320 508935 Benign Knobloch_syndrome_1
not_provided		 0.9705 0.98842 HET Link to ClinVar
261919 257481 Benign not_specified 0.34374 0.3756 HET Link to ClinVar
261885 257482 Benign not_specified 0.20054 0.248 HET Link to ClinVar
340214 351873 Likely_benign Knobloch_syndrome_1 . . HET Link to ClinVar
261890 257487 Benign not_specified . 0.17053 HET Link to ClinVar
261892 257489 Benign not_specified 0.22648 0.20827 HET Link to ClinVar
261895 257492 Benign Knobloch_syndrome_1
not_specified		 . 0.31989 HET Link to ClinVar
803635 792012 Benign Knobloch_syndrome_1 . . HOM Link to ClinVar
340240 336991 Likely_benign Knobloch_syndrome_1 0.02719 0.01198 HET Link to ClinVar
157588 167450 Uncertain_significance Gastrointestinal_stroma_tumor 0.57697 0.48862 HET Link to ClinVar
671107 670465 Benign not_provided . . HOM Link to ClinVar
93873 99775 Benign Collagen_VI-related_myopathy
not_specified		 0.86443 0.88039 HOM Link to ClinVar
93876 99778 Benign not_specified 0.18468 0.11242 HOM Link to ClinVar
93879 99781 Benign Collagen_VI-related_myopathy
not_specified		 0.7215 0.69589 HOM Link to ClinVar
679177 670412 Benign not_provided . . HOM Link to ClinVar
679178 670417 Benign not_provided . . HOM Link to ClinVar
93891 99793 Benign not_specified 0.86182 0.8768 HOM Link to ClinVar
93897 99799 Benign Collagen_VI-related_myopathy
not_specified		 0.18246 0.09405 HOM Link to ClinVar
93793 99695 Benign not_specified . . HET Link to ClinVar
93800 99702 Benign not_specified . 0.0022 HET Link to ClinVar
679180 670469 Benign not_provided . . HOM Link to ClinVar
93805 99707 Benign Bethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified		 0.53147 0.54493 HOM Link to ClinVar
680311 669369 Benign not_provided . . HOM Link to ClinVar
93811 99713 Benign not_specified
not_provided		 0.85892 0.87141 HOM Link to ClinVar
679939 670667 Benign not_provided . . HOM Link to ClinVar
679940 669370 Benign not_provided . . HET Link to ClinVar
93813 99715 Benign not_specified
not_provided		 0.53754 0.51158 HET Link to ClinVar
93815 99717 Benign not_specified . 0.61002 HET Link to ClinVar
93816 99718 Benign not_specified . . HOM Link to ClinVar
93817 99719 Benign not_specified
not_provided		 0.34121 0.28714 HET Link to ClinVar
93822 99724 Benign not_specified
not_provided		 . 0.88339 HOM Link to ClinVar
680314 670423 Benign not_provided . . HET Link to ClinVar
679945 669373 Benign not_provided . . HOM Link to ClinVar
93826 99728 Benign not_specified
not_provided		 . 0.28934 HET Link to ClinVar
679948 670668 Benign not_provided . . HET Link to ClinVar
679947 670669 Benign not_provided . . HOM Link to ClinVar
679949 670671 Benign not_provided . . HOM Link to ClinVar
679185 669397 Benign not_provided . . HOM Link to ClinVar
679186 670680 Benign not_provided . . HET Link to ClinVar
93831 99733 Benign not_specified
not_provided		 0.28387 0.26597 HET Link to ClinVar
93832 99734 Benign not_specified
not_provided		 . 0.83027 HOM Link to ClinVar
93834 99736 Benign not_specified
not_provided		 . 0.55951 HET Link to ClinVar
93835 99737 Benign not_specified
not_provided		 . 0.86741 HOM Link to ClinVar
679192 669411 Benign not_provided . . HOM Link to ClinVar
679195 669417 Benign not_provided . . HOM Link to ClinVar
93850 99752 Benign not_specified
not_provided		 0.56202 0.55132 HET Link to ClinVar
679201 670685 Benign not_provided . . HOM Link to ClinVar
93861 99763 Benign Bethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified		 0.28883 0.27017 HET Link to ClinVar
93864 99766 Benign Bethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified		 0.28593 0.26817 HET Link to ClinVar
93865 99767 Benign Bethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified		 0.1626 0.10883 HET Link to ClinVar
93870 99772 Benign Collagen_VI-related_myopathy
not_specified		 0.27149 0.26418 HET Link to ClinVar
340342 350905 Benign Collagen_VI-related_myopathy . 0.88199 HOM Link to ClinVar
679204 670436 Benign not_provided . . HET Link to ClinVar
93955 99857 Benign Myosclerosis
Collagen_VI-related_myopathy
not_specified
not_provided		 . 0.09505 HET Link to ClinVar
679205 670443 Benign not_provided . . HET Link to ClinVar
679207 670444 Benign not_provided . . HET Link to ClinVar
93963 99865 Benign not_specified 0.49215 0.39756 HET Link to ClinVar
93900 99802 Benign not_specified
not_provided		 0.5309 0.45148 HET Link to ClinVar
679212 670455 Benign not_provided . . HET Link to ClinVar
679213 670458 Benign not_provided . . HET Link to ClinVar
679206 669446 Benign not_provided . . HOM Link to ClinVar
93903 99805 Benign Myosclerosis
Collagen_VI-related_myopathy
not_specified		 . 0.70527 HOM Link to ClinVar
93905 99807 Benign not_specified
not_provided		 0.76684 0.8097 HOM Link to ClinVar
672468 669449 Likely_benign not_provided . . HET Link to ClinVar
671689 670698 Benign not_provided . . HET Link to ClinVar
679215 669451 Benign not_provided . . HET Link to ClinVar
679217 670501 Benign not_provided . . HET Link to ClinVar
679209 670502 Benign not_provided . . HOM Link to ClinVar
679218 670709 Benign not_provided . . HET Link to ClinVar
679222 670710 Benign not_provided . . HET Link to ClinVar
679210 670712 Benign not_provided . . HOM Link to ClinVar
679224 670715 Benign not_provided . . HET Link to ClinVar
93914 99816 Benign Myosclerosis
Collagen_VI-related_myopathy
not_specified		 0.81221 0.84744 HOM Link to ClinVar
668105 670474 Benign not_provided . . HOM Link to ClinVar
93916 99818 Benign not_specified
not_provided		 . . HET Link to ClinVar
93919 99821 Benign/Likely_benign not_specified
not_provided		 0.08368 0.07568 HET Link to ClinVar
93922 99824 Benign not_specified
not_provided		 0.79849 0.79513 HOM Link to ClinVar
93929 99831 Benign Myosclerosis
Bethlem_myopathy_1
Collagen_VI-related_myopathy
not_specified
not_provided		 0.4784 0.39397 HET Link to ClinVar
93930 99832 Benign Myosclerosis
Collagen_VI-related_myopathy
not_specified
not_provided		 0.47551 0.39417 HET Link to ClinVar
93931 99833 Benign Myosclerosis
Collagen_VI-related_myopathy
not_specified
not_provided		 0.47551 0.39397 HET Link to ClinVar
679226 669469 Benign not_provided . . HET Link to ClinVar
679219 670494 Benign not_provided . . HET Link to ClinVar
679228 670511 Benign not_provided . . HET Link to ClinVar
93940 99842 Benign not_specified
not_provided		 0.53587 0.48383 HOM Link to ClinVar
93948 99850 Benign/Likely_benign GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY
Myosclerosis
Collagen_VI-related_myopathy
not_specified
not_provided		 0.09244 0.06729 HET Link to ClinVar
340393 350939 Likely_benign GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY
Myosclerosis
Collagen_VI-related_myopathy		 . 0.03994 HET Link to ClinVar
95424 101323 Benign GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY
not_specified		 0.5139 0.48103 HET Link to ClinVar
677175 656675 Benign not_provided . . HET Link to ClinVar
677221 656676 Benign not_provided . . HET Link to ClinVar
677174 656677 Benign not_provided . . HET Link to ClinVar
677173 670517 Benign not_provided . . HOM Link to ClinVar
677172 670522 Benign not_provided . . HET Link to ClinVar
677220 656678 Benign not_provided . . HET Link to ClinVar
677219 656679 Benign not_provided . . HET Link to ClinVar
403075 390367 Benign not_specified 0.45147 0.42173 HET Link to ClinVar
718693 728978 Benign not_provided . . HET Link to ClinVar
403613 390484 Benign not_specified 0.32412 0.2486 HET Link to ClinVar
402442 390504 Benign not_specified . . HET Link to ClinVar
340455 351957 Benign Microcephalic_Osteodysplastic_Primordial_Dwarfism . . HOM Link to ClinVar
95341 101240 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified		 0.6408 0.67512 HET Link to ClinVar
667797 670527 Benign not_provided . . HET Link to ClinVar
159653 169621 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 . 0.29992 HET Link to ClinVar
668870 670727 Benign not_provided . . HET Link to ClinVar
159566 169626 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 . 0.28954 HET Link to ClinVar
667796 669479 Benign not_provided . . HOM Link to ClinVar
159569 169629 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.85592 0.84864 HOM Link to ClinVar
667798 670498 Benign not_provided . . HOM Link to ClinVar
159572 169631 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.85481 0.84705 HOM Link to ClinVar
667799 670503 Benign not_provided . . HOM Link to ClinVar
159573 169632 Benign not_specified
not_provided		 . 0.80651 HOM Link to ClinVar
159574 169633 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.74868 0.65775 HOM Link to ClinVar
159579 169638 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.85275 0.83886 HOM Link to ClinVar
159581 169640 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.853 0.83766 HOM Link to ClinVar
159597 169654 Benign not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.36576 0.30152 HET Link to ClinVar
667804 670736 Benign not_provided . . HET Link to ClinVar
673979 670743 Benign not_provided . . HET Link to ClinVar
667805 669484 Benign not_provided . . HET Link to ClinVar
667543 670510 Benign not_provided . . HET Link to ClinVar
159642 169690 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.28109 0.2496 HET Link to ClinVar
667806 670748 Benign not_provided . . HET Link to ClinVar
159668 169714 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified		 0.66531 0.66913 HET Link to ClinVar
159670 169716 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.57743 0.48822 HET Link to ClinVar
159671 169717 Benign Microcephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.63968 0.66993 HET Link to ClinVar
668871 670529 Benign not_provided . . HET Link to ClinVar
159685 169731 Benign not_specified
not_provided		 0.35946 0.3127 HET Link to ClinVar
159692 169737 Benign/Likely_benign not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism		 0.12772 0.10583 HET Link to ClinVar
667801 670534 Benign not_provided . . HET Link to ClinVar
667803 670516 Benign not_provided . . HET Link to ClinVar
718694 728990 Benign not_provided . . HET Link to ClinVar
340557 346957 Benign Familial_Candidiasis,_Recessive 0.79412 0.77496 HOM Link to ClinVar
340561 351009 Benign not_specified
Familial_Candidiasis,_Recessive		 0.80657 0.77476 HOM Link to ClinVar
340585 352040 Benign Immunodeficiency_51
not_specified
Familial_Candidiasis,_Recessive		 0.81149 0.83227 HET Link to ClinVar
340592 351025 Benign Familial_Candidiasis,_Recessive 0.11533 0.12141 HET Link to ClinVar
340614 351038 Benign Familial_Candidiasis,_Recessive 0.23956 0.27995 HET Link to ClinVar
340622 351041 Benign Familial_Candidiasis,_Recessive . 0.73103 HET Link to ClinVar
340624 351044 Benign Familial_Candidiasis,_Recessive . 0.53974 HET Link to ClinVar
340632 351047 Benign Familial_Candidiasis,_Recessive . 0.55551 HET Link to ClinVar
340645 347016 Uncertain_significance Familial_Candidiasis,_Recessive . 0.00419 HET Link to ClinVar
340670 347027 Benign Familial_Candidiasis,_Recessive . 0.83666 HET Link to ClinVar
340706 352116 Benign Familial_Candidiasis,_Recessive . 0.48742 HET Link to ClinVar
340707 337411 Benign Familial_Candidiasis,_Recessive . 0.48642 HET Link to ClinVar
340710 337414 Benign Familial_Candidiasis,_Recessive . 0.48602 HET Link to ClinVar
340730 337449 Benign Familial_Candidiasis,_Recessive . 0.61861 HET Link to ClinVar
340732 347061 Benign Familial_Candidiasis,_Recessive . 0.19709 HET Link to ClinVar
340736 351104 Benign Familial_Candidiasis,_Recessive . 0.83686 HET Link to ClinVar
402526 390468 Benign not_specified 0.25683 0.1873 HET Link to ClinVar
402527 390370 Benign not_specified 0.25647 0.19189 HET Link to ClinVar
402528 390485 Benign not_specified . 0.1863 HET Link to ClinVar
402529 390469 Benign not_specified 0.4341 0.3113 HET Link to ClinVar
340749 352137 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.05831 HET Link to ClinVar
340761 347074 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) 0.6133 0.42272 HET Link to ClinVar
340772 352140 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.99581 HOM Link to ClinVar
340780 352142 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.8734 HOM Link to ClinVar
340786 351137 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.42312 HET Link to ClinVar
340788 347084 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . HOM Link to ClinVar
340795 351141 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . HOM Link to ClinVar
340803 347095 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.8734 HOM Link to ClinVar
340807 351144 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.99601 HOM Link to ClinVar
127267 132724 Uncertain_significance not_provided 0.789 0.76338 HOM Link to ClinVar
384743 377376 Benign/Likely_benign not_specified
not_provided		 0.00091 0.001 HET Link to ClinVar
263369 259118 Benign not_specified
Cardiovascular_phenotype		 0.70124 0.71825 HET Link to ClinVar
678647 670774 Benign not_provided . . HET Link to ClinVar
263411 259130 Benign not_specified
Cardiovascular_phenotype		 0.18788 0.2512 HET Link to ClinVar
384718 378611 Benign not_specified 0.24214 0.24221 HET Link to ClinVar
678646 670531 Benign not_provided . . HET Link to ClinVar
678039 670535 Benign not_provided . . HOM Link to ClinVar
678639 670540 Benign not_provided . . HET Link to ClinVar
678090 670779 Benign not_provided . . HOM Link to ClinVar
684049 670782 Benign not_provided . . HET Link to ClinVar
678085 670554 Benign not_provided . . HET Link to ClinVar
678638 670565 Benign not_provided . . HOM Link to ClinVar
263409 259140 Benign not_specified
Cardiovascular_phenotype		 0.14627 0.16813 HET Link to ClinVar
263343 259137 Benign not_specified
Cardiovascular_phenotype		 0.44449 0.48303 HET Link to ClinVar
263370 259134 Benign not_specified
Cardiovascular_phenotype		 0.56488 0.59684 HOM Link to ClinVar
678637 670556 Benign not_provided . . HOM Link to ClinVar
678660 669526 Benign not_provided . . HET Link to ClinVar
225950 227810 drug_response Selective_serotonin_reuptake_inhibitors_response_-_Efficacy
not_provided		 . 0.07728 HET Link to ClinVar
678640 670792 Benign not_provided . . HOM Link to ClinVar
256785 257574 Benign not_specified 0.46797 0.37161 HET Link to ClinVar
256786 257575 Benign not_specified 0.33917 0.29693 HET Link to ClinVar
17591 32630 drug_response CATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM
methadone_response_-_Dosage,_Efficacy
morphine_response_-_Dosage,_Efficacy
opioids_response_-_Dosage,_Efficacy
oxycodone_response_-_Dosage,_Efficacy
remifentanil_response_-_Dosage,_Efficacy
sufentanil_response_-_Dosage,_Efficacy
tramadol_response_-_Dosage,_Efficacy
not_specified
nicotine_response_-_Efficacy		 0.47275 0.36921 HET Link to ClinVar
256784 257576 Benign not_specified . . HET Link to ClinVar
684137 670569 Benign not_provided . . HOM Link to ClinVar
672145 669544 Benign not_provided . . HET Link to ClinVar
684139 670568 Benign not_provided . . HET Link to ClinVar
684147 670799 Benign not_provided . . HET Link to ClinVar
518324 508939 Benign Marden_Walker_like_syndrome 0.58141 0.53455 HOM Link to ClinVar
518325 508940 Benign Marden_Walker_like_syndrome . 0.24221 HOM Link to ClinVar
340826 352170 Benign Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome
not_specified		 0.54728 0.46386 HOM Link to ClinVar
340830 337552 Benign Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome
not_specified
not_provided		 0.53581 0.40355 HOM Link to ClinVar
340874 352211 Uncertain_significance Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome . . HET Link to ClinVar
561399 553053 Benign not_provided . 0.98942 HOM Link to ClinVar
561409 553057 Benign not_provided 0.4203 0.35743 HOM Link to ClinVar
561529 553062 Benign not_provided . 0.55112 HOM Link to ClinVar
561840 553064 Benign not_provided . 0.45787 HET Link to ClinVar
561426 553071 Likely_benign not_provided . 0.05232 HET Link to ClinVar
561410 553073 Benign not_provided . 0.42871 HET Link to ClinVar
561411 553076 Benign not_provided . 0.1875 HET Link to ClinVar
561412 553077 Benign not_provided . 0.71206 HOM Link to ClinVar
561413 553078 Benign not_provided . 0.41374 HET Link to ClinVar
561664 553080 Likely_benign not_provided . 0.05351 HET Link to ClinVar
561931 553081 Likely_benign not_provided . 0.05491 HET Link to ClinVar
561582 553086 Benign not_provided . 0.1857 HET Link to ClinVar
379413 378633 Benign not_provided 0.70703 0.64397 HET Link to ClinVar
561414 553088 Benign not_provided . 0.59165 HOM Link to ClinVar
561427 553089 Likely_benign not_provided . 0.05371 HET Link to ClinVar
561667 553092 Likely_benign not_provided . 0.05272 HET Link to ClinVar
561668 553094 Likely_benign not_provided . 0.05212 HET Link to ClinVar
561841 553095 Benign not_provided . 0.85044 HOM Link to ClinVar
561415 553097 Benign not_provided 0.75341 0.74301 HOM Link to ClinVar
561428 553098 Likely_benign not_provided . 0.05092 HET Link to ClinVar
561418 553102 Benign not_provided . 0.7522 HOM Link to ClinVar
561669 553106 Likely_benign not_provided . 0.05172 HET Link to ClinVar
561419 553111 Benign not_provided . 0.75439 HOM Link to ClinVar
561421 553113 Benign not_provided 0.29128 0.20867 HET Link to ClinVar
769153 778692 Benign not_provided . . HOM Link to ClinVar
379953 378642 Benign Spinal_muscular_atrophy,_jokela_type
not_specified		 . 0.72983 HOM Link to ClinVar
379952 378643 Benign not_specified 0.87888 0.87101 HOM Link to ClinVar
379951 377411 Benign not_specified 0.82171 0.8758 HOM Link to ClinVar
684097 670574 Benign not_provided . . HOM Link to ClinVar
684098 669573 Benign not_provided . . HOM Link to ClinVar
133392 137131 not_provided not_specified 0.79394 0.71166 HOM Link to ClinVar
677098 670805 Benign not_provided . . HOM Link to ClinVar
677102 670813 Benign not_provided . . HOM Link to ClinVar
803646 792021 Benign Hypertelorism,_Teebi_type . . HOM Link to ClinVar
803647 792022 Benign Hypertelorism,_Teebi_type . . HOM Link to ClinVar
225974 227811 drug_response caffeine_response_-_Toxicity/ADR . 0.40056 HET Link to ClinVar
100154 106031 Benign Deficiency_of_beta-ureidopropionase
not_provided		 . 0.53275 HET Link to ClinVar
340947 347213 Benign Congenital_nuclear_cataract
not_provided		 . 0.65495 HOM Link to ClinVar
259229 257578 Benign Congenital_nuclear_cataract
not_specified
not_provided		 0.65576 0.66414 HOM Link to ClinVar
340965 351236 Benign Hermansky-Pudlak_syndrome . 0.85583 HOM Link to ClinVar
163670 176369 Benign Hermansky-Pudlak_syndrome
not_specified		 0.88193 0.82728 HOM Link to ClinVar
261533 257585 Benign not_specified 0.90162 0.85284 HOM Link to ClinVar
163671 176247 Benign Hermansky-Pudlak_syndrome
not_specified		 0.88177 0.82748 HOM Link to ClinVar
163672 176370 Benign Hermansky-Pudlak_syndrome
not_specified		 . 0.79313 HOM Link to ClinVar
163673 176248 Benign Hermansky-Pudlak_syndrome
not_specified		 0.38292 0.35423 HOM Link to ClinVar
261538 257588 Benign not_specified 0.86742 0.81849 HOM Link to ClinVar
261537 257589 Benign not_specified 0.8487 0.79074 HOM Link to ClinVar
163674 176371 Benign Hermansky-Pudlak_syndrome
not_specified		 0.84868 0.79313 HOM Link to ClinVar
341028 352322 Benign Hermansky-Pudlak_syndrome . 0.78954 HOM Link to ClinVar
341029 337688 Benign Hermansky-Pudlak_syndrome . 0.86681 HOM Link to ClinVar
341033 347260 Likely_benign Hermansky-Pudlak_syndrome . 0.0649 HET Link to ClinVar
341040 347269 Benign Hermansky-Pudlak_syndrome 0.8313 0.78954 HOM Link to ClinVar
677163 669609 Benign not_provided . . HET Link to ClinVar
667637 669612 Benign not_provided . . HET Link to ClinVar
677231 669615 Benign not_provided . . HET Link to ClinVar
258486 257592 Benign not_specified
not_provided		 0.51492 0.58826 HET Link to ClinVar
258487 257593 Benign not_specified
not_provided		 0.89265 0.92372 HOM Link to ClinVar
674008 670609 Benign not_provided . . HET Link to ClinVar
723108 742837 Benign not_provided . . HET Link to ClinVar
522277 512967 Benign Amyotrophic_lateral_sclerosis_type_1
not_provided		 . . HOM Link to ClinVar
66743 77640 Benign Amyotrophic_lateral_sclerosis_type_1
not_provided		 0.81898 0.85044 HOM Link to ClinVar
683799 670593 Benign not_provided . . HET Link to ClinVar
341065 337721 Benign Neurofibromatosis,_type_2
not_provided		 . 0.35184 HET Link to ClinVar
341066 352335 Benign Neurofibromatosis,_type_2 . 0.87021 HOM Link to ClinVar
676985 670831 Benign not_provided . . HET Link to ClinVar
676986 670626 Benign not_provided . . HET Link to ClinVar
676987 670628 Benign not_provided . . HET Link to ClinVar
676988 670596 Benign not_provided . . HET Link to ClinVar
676989 669628 Benign not_provided . . HET Link to ClinVar
683803 669630 Benign not_provided . . HET Link to ClinVar
803676 792051 Benign Neurofibromatosis,_type_2 . . HOM Link to ClinVar
676991 670599 Benign not_provided . . HET Link to ClinVar
341131 351324 Benign Neurofibromatosis,_type_2 . . HET Link to ClinVar
341149 347385 Benign Neurofibromatosis,_type_2 . 0.26298 HET Link to ClinVar
341157 352370 Benign Neurofibromatosis,_type_2 . 0.26538 HET Link to ClinVar
369375 353604 Likely_benign Transcobalamin_II_deficiency . 0.10503 HET Link to ClinVar
341183 352382 Benign Transcobalamin_II_deficiency . 0.55451 HET Link to ClinVar
97 15136 Benign TRANSCOBALAMIN_II_POLYMORPHISM
Transcobalamin_II_deficiency
not_specified		 . 0.57967 HET Link to ClinVar
341219 347426 Likely_benign Transcobalamin_II_deficiency . 0.06749 HET Link to ClinVar
257661 257607 Benign Seizures
Epilepsy,_familial_focal,_with_variable_foci_1
not_specified
not_provided		 0.02173 0.02037 HET Link to ClinVar
341275 352408 Benign Congenital_glucose-galactose_malabsorption . 0.58826 HET Link to ClinVar
341296 351413 Benign Congenital_glucose-galactose_malabsorption . 0.96366 HOM Link to ClinVar
341299 352418 Benign Parkinson_Disease,_Recessive . 0.53834 HET Link to ClinVar
195275 192436 Benign Parkinson_disease_15
not_specified
Parkinson_Disease,_Recessive		 0.44003 0.48742 HET Link to ClinVar
341314 347523 Benign Parkinson_disease_15
Parkinson_Disease,_Recessive		 0.43995 0.48762 HET Link to ClinVar
341328 352436 Benign Pseudoinflammatory_fundus_dystrophy . 0.34185 HET Link to ClinVar
255943 257609 Benign Pseudoinflammatory_fundus_dystrophy
not_specified		 0.55181 0.65096 HET Link to ClinVar
341374 337929 Uncertain_significance Pseudoinflammatory_fundus_dystrophy . . HET Link to ClinVar
683057 669642 Benign not_provided . . HET Link to ClinVar
683017 670859 Benign not_provided . . HET Link to ClinVar
683004 670621 Benign not_provided . . HET Link to ClinVar
684050 670896 Benign not_provided . . HOM Link to ClinVar
666614 654927 Benign not_specified . . HOM Link to ClinVar
341469 338008 Benign MYH9-related_disorder
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.17812 HET Link to ClinVar
341475 338013 Benign MYH9-related_disorder
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.22025 HET Link to ClinVar
38967 47570 Benign Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss
MYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.25841 0.29413 HET Link to ClinVar
44565 53732 Benign MYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.25815 0.29373 HET Link to ClinVar
258745 257631 Benign not_specified 0.59165 0.48562 HET Link to ClinVar
44559 53726 Benign MYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 . 0.98263 HOM Link to ClinVar
258730 257646 Benign not_specified
not_provided		 0.26282 0.30112 HET Link to ClinVar
44551 53718 Benign MYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.87139 0.76078 HOM Link to ClinVar
44550 53717 Benign MYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant		 0.56142 0.39357 HET Link to ClinVar
198201 195362 Benign not_specified 0.70332 0.627 HOM Link to ClinVar
260308 257666 Benign Chronic_granulomatous_disease
Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_III
not_specified		 0.83373 0.82808 HOM Link to ClinVar
262726 257669 Benign Microcytic_anemia
not_specified		 0.36545 0.35603 HOM Link to ClinVar
262725 257670 Benign Microcytic_anemia
not_specified		 . 0.60463 HOM Link to ClinVar
262724 257671 Benign Microcytic_anemia
not_specified		 . . HOM Link to ClinVar
262722 257672 Benign Microcytic_anemia
not_specified		 0.53902 0.54353 HOM Link to ClinVar
262719 257675 Benign Microcytic_anemia
not_specified		 0.38267 0.3129 HOM Link to ClinVar
262728 257676 Benign Microcytic_anemia
not_specified		 0.39793 0.39038 HOM Link to ClinVar
341606 352542 Benign Microcytic_anemia . 0.28474 HET Link to ClinVar
369379 353608 Benign Microcytic_anemia . 0.31729 HET Link to ClinVar
138864 142567 Benign not_specified 0.17026 0.2474 HET Link to ClinVar
14472 29511 risk_factor Myocardial_infarction . . HOM Link to ClinVar
508110 508413 Benign not_specified 0.56966 0.52656 HOM Link to ClinVar
198447 195608 Benign Deafness,_autosomal_recessive_28
not_specified		 . . HET Link to ClinVar
508111 507585 Benign not_specified 0.39248 0.33626 HET Link to ClinVar
516766 508147 Benign not_specified 0.39339 0.33666 HET Link to ClinVar
286830 271067 Benign not_specified 0.44206 0.33666 HET Link to ClinVar
286831 271068 Benign not_specified 0.7412 0.60104 HET Link to ClinVar
43851 53020 Benign not_specified 0.38979 0.33726 HET Link to ClinVar
43855 53024 Benign not_specified 0.9653 0.98263 HOM Link to ClinVar
257225 257683 Benign not_specified . . HOM Link to ClinVar
341614 352544 Benign Peripheral_demyelinating_neuropathy,_central_dysmyelination,_Waardenburg_syndrome,_and_Hirschsprung_disease
Waardenburg_syndrome		 . 0.60843 HOM Link to ClinVar
227081 231226 Benign Peripheral_demyelinating_neuropathy,_central_dysmyelination,_Waardenburg_syndrome,_and_Hirschsprung_disease
Waardenburg_syndrome
not_specified		 0.65368 0.71326 HOM Link to ClinVar
670882 670672 Benign not_provided . . HET Link to ClinVar
678102 669684 Benign not_provided . . HET Link to ClinVar
341713 347823 Benign Nephronophthisis-Like_Nephropathy . 0.59465 HOM Link to ClinVar
93732 99635 Benign Rubinstein-Taybi_syndrome_1
not_specified		 0.98918 0.96166 HOM Link to ClinVar
93736 99639 Benign Rubinstein-Taybi_syndrome_1
not_specified		 0.29593 0.22344 HET Link to ClinVar
93738 99641 Benign Rubinstein-Taybi_syndrome_1
not_specified		 0.65725 0.67392 HOM Link to ClinVar
93741 99644 Benign not_specified 0.30108 0.2484 HET Link to ClinVar
93742 99645 Benign not_specified 0.30847 0.26418 HET Link to ClinVar
158555 169838 Benign Rubinstein-Taybi_syndrome_1
not_specified		 . . HET Link to ClinVar
128256 133705 Benign not_specified
not_provided		 0.32105 0.41833 HET Link to ClinVar
128257 133706 Benign not_specified
not_provided		 0.39927 0.27037 HET Link to ClinVar
678096 670674 Benign not_provided . . HET Link to ClinVar
136263 139966 Benign not_specified 0.33711 0.48443 HET Link to ClinVar
683113 669696 Benign not_provided . . HET Link to ClinVar
678097 669698 Benign not_provided . . HET Link to ClinVar
683142 670678 Benign not_provided . . HET Link to ClinVar
678098 670682 Benign not_provided . . HET Link to ClinVar
341885 351725 Benign Kanzaki_disease
Schindler_disease,_type_1		 . 0.64756 HOM Link to ClinVar
341891 351735 Benign Kanzaki_disease
Schindler_disease,_type_1		 . 0.45947 HET Link to ClinVar
198062 195223 Benign Kanzaki_disease
Schindler_disease,_type_1
not_specified
not_provided		 0.17138 0.16813 HET Link to ClinVar
682645 670696 Benign not_provided . . HOM Link to ClinVar
682644 670919 Benign not_provided . . HOM Link to ClinVar
196242 193403 Benign Kanzaki_disease
Schindler_disease,_type_1
not_specified
not_provided		 0.6728 0.67692 HOM Link to ClinVar
341917 352623 Benign Kanzaki_disease
Schindler_disease,_type_1
not_provided		 . 0.64237 HOM Link to ClinVar
684292 670700 Benign not_provided . . HET Link to ClinVar
682643 670651 Benign not_provided . . HOM Link to ClinVar
682642 669700 Benign not_provided . . HOM Link to ClinVar
516889 508193 Likely_benign not_specified 0.45556 0.40116 HET Link to ClinVar
516890 508196 Likely_benign not_specified 0.65666 0.64078 HOM Link to ClinVar
16889 31928 drug_response Debrisoquine,_poor_metabolism_of
not_specified
amitriptyline_response_-_Dosage,_Toxicity/ADR
antidepressants_response_-_Dosage,_Toxicity/ADR
clomipramine_response_-_Dosage,_Toxicity/ADR
desipramine_response_-_Dosage,_Toxicity/ADR
doxepin_response_-_Dosage,_Toxicity/ADR
imipramine_response_-_Dosage,_Toxicity/ADR
nortriptyline_response_-_Dosage,_Toxicity/ADR
trimipramine_response_-_Dosage,_Toxicity/ADR
tamoxifen_response_-_Efficacy,_Toxicity/ADR
not_provided		 0.17076 0.09305 HET Link to ClinVar
16893 31932 Likely_benign,_other Debrisoquine,_poor_metabolism_of
not_specified
not_provided		 0.24669 0.23802 HET Link to ClinVar
403577 390488 Benign not_specified . 0.01558 HET Link to ClinVar
403579 390421 Benign not_specified 0.26067 0.14816 HET Link to ClinVar
403580 390425 Benign not_specified 0.24809 0.14856 HET Link to ClinVar
341943 348026 Likely_benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Disease 0.67781 0.78774 HOM Link to ClinVar
341949 348031 Likely_benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Disease . 0.24661 HET Link to ClinVar
341954 338402 Likely_benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Disease . . HET Link to ClinVar
341956 348034 Likely_benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Disease . 0.16494 HET Link to ClinVar
341970 348048 Uncertain_significance Renal_hypodysplasia/aplasia_1 0.00014 0.0002 HET Link to ClinVar
341974 338422 Benign/Likely_benign Renal_hypodysplasia/aplasia_1 0.69709 0.54812 HET Link to ClinVar
341977 338423 Benign/Likely_benign Renal_hypodysplasia/aplasia_1 0.77882 0.77436 HET Link to ClinVar
1290 16329 Benign Deafness,_mitochondrial,_modifier_of
Liver_failure_acute_infantile
not_specified
not_provided		 0.1967 0.10563 HOM Link to ClinVar
671698 670657 Benign not_provided . . HOM Link to ClinVar
676432 670714 Benign not_provided . . HOM Link to ClinVar
342028 348087 Benign Liver_failure_acute_infantile . 0.19329 HOM Link to ClinVar
342032 338484 Likely_benign Congenital_disorder_of_glycosylation 0.11407 0.06649 HET Link to ClinVar
342038 351793 Benign Congenital_disorder_of_glycosylation 0.2749 0.40216 HET Link to ClinVar
96095 101989 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.11215 0.09165 HET Link to ClinVar
96102 101996 Benign Congenital_disorder_of_glycosylation
not_specified
not_provided		 0.27037 0.40216 HET Link to ClinVar
261688 257696 Benign not_specified 0.27044 0.40196 HET Link to ClinVar
261687 257697 Benign not_specified . 0.26538 HET Link to ClinVar
96098 101992 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.22372 0.26558 HET Link to ClinVar
96099 101993 Benign/Likely_benign Congenital_disorder_of_glycosylation
not_specified		 0.22379 0.26558 HET Link to ClinVar
96096 101990 Benign not_specified 0.09349 0.07029 HET Link to ClinVar
342066 351806 Likely_benign Congenital_disorder_of_glycosylation . 0.2512 HET Link to ClinVar
342067 338526 Likely_benign Congenital_disorder_of_glycosylation . . HET Link to ClinVar
342068 352662 Likely_benign Congenital_disorder_of_glycosylation . 0.24481 HET Link to ClinVar
770820 778490 Benign not_provided . . HET Link to ClinVar
262456 257699 Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts
not_specified		 0.29742 0.28295 HOM Link to ClinVar
260573 257708 Benign not_specified 0.95145 0.97364 HOM Link to ClinVar
342119 348156 Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts . . HOM Link to ClinVar
518327 508942 Benign Microcephaly_and_chorioretinopathy,_autosomal_recessive,_1 0.96596 0.98243 HOM Link to ClinVar
518329 508944 Benign Microcephaly_and_chorioretinopathy,_autosomal_recessive,_1 0.79119 0.85883 HOM Link to ClinVar
258881 257710 Benign not_specified 0.5176 0.501 HET Link to ClinVar
139087 142790 Conflicting_interpretations_of_pathogenicity Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided		 0.00584 0.0018 HET Link to ClinVar
139086 142789 Benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided		 0.63835 0.65555 HET Link to ClinVar
139082 142785 Benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided		 . 0.65156 HET Link to ClinVar
139081 142784 Benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy		 . 0.14297 HET Link to ClinVar
342130 351827 Benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
Fatal_Infantile_Cardioencephalomyopathy		 . 0.53395 HET Link to ClinVar
130693 136139 Benign Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided		 . 0.14277 HET Link to ClinVar
137878 141581 Benign/Likely_benign Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided		 0.05454 0.02376 HET Link to ClinVar
130694 136140 Benign Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided		 0.67213 0.53295 HET Link to ClinVar
671618 670728 Benign not_provided . . HET Link to ClinVar
670262 669706 Benign not_provided . . HOM Link to ClinVar
128729 134178 Benign not_specified
Congenital_Muscular_Dystrophy,_CHKB-related		 0.70072 0.70328 HET Link to ClinVar
668085 669723 Benign not_provided . . HOM Link to ClinVar
668084 669726 Benign not_provided . . HET Link to ClinVar
342205 348215 Benign Metachromatic_leukodystrophy . 0.47624 HET Link to ClinVar
342214 352699 Benign Metachromatic_leukodystrophy . 0.83486 HET Link to ClinVar
342216 351896 Benign Metachromatic_leukodystrophy . 0.34904 HET Link to ClinVar
342221 348232 Benign Metachromatic_leukodystrophy . 0.35104 HET Link to ClinVar
342227 351906 Likely_benign Metachromatic_leukodystrophy . 0.11362 HET Link to ClinVar
93118 99025 Benign not_specified
not_provided		 0.79769 0.81909 HET Link to ClinVar
21184 34036 Benign Metachromatic_leukodystrophy
not_specified
not_provided		 0.48431 0.40555 HET Link to ClinVar
672054 670684 Benign not_provided . . HET Link to ClinVar
403431 390489 Benign History_of_neurodevelopmental_disorder
not_specified		 0.51155 0.34325 HOM Link to ClinVar
402335 390377 Benign not_specified
not_provided		 0.66127 0.63838 HET Link to ClinVar
93092 98999 Benign not_specified
not_provided		 . 0.95868 HOM Link to ClinVar
265860 260560 Uncertain_significance Short_stature,_idiopathic,_X-linked . 0.12212 HET Link to ClinVar
178717 178252 Benign not_specified 0.3715 0.32662 HET Link to ClinVar
379979 380029 Benign not_specified 0.95768 0.91868 . Link to ClinVar
684112 670773 Benign not_provided . . . Link to ClinVar
684114 670781 Benign not_provided . . . Link to ClinVar
684117 669917 Benign not_provided . . . Link to ClinVar
684124 671107 Benign not_provided . . . Link to ClinVar
379982 379223 Benign not_specified 0.70164 0.57828 . Link to ClinVar
684126 669922 Benign not_provided . . . Link to ClinVar
684129 670885 Benign not_provided . . . Link to ClinVar
684131 671108 Benign not_provided . . . Link to ClinVar
379983 378170 Benign not_specified 0.66782 0.57536 . Link to ClinVar
157730 167578 Benign not_specified
not_provided		 0.62598 0.56583 . Link to ClinVar
157728 167576 Benign Chondrodysplasia_punctata_1,_X-linked_recessive
not_specified
not_provided		 0.6593 0.57457 . Link to ClinVar
667510 669926 Benign not_provided . . . Link to ClinVar
674716 671112 Benign not_provided . . . Link to ClinVar
769169 706214 Benign not_provided . . . Link to ClinVar
95987 101883 Benign History_of_neurodevelopmental_disorder
not_specified		 0.11369 0.1208 . Link to ClinVar
255564 257885 Benign not_specified 0.56948 0.48185 . Link to ClinVar
673328 671095 Benign not_provided . . . Link to ClinVar
255563 257886 Benign not_specified 0.59157 0.48821 . Link to ClinVar
667655 671188 Benign not_provided . . . Link to ClinVar
129215 134661 Benign History_of_neurodevelopmental_disorder
not_specified		 0.01838 0.00848 . Link to ClinVar
95614 101512 Benign not_specified 0.99285 0.99523 . Link to ClinVar
367968 338927 Benign Spondyloepiphyseal_dysplasia . 0.77298 . Link to ClinVar
367970 338933 Benign Spondyloepiphyseal_dysplasia . . . Link to ClinVar
367978 348506 Benign Spondyloepiphyseal_dysplasia . . . Link to ClinVar
367981 352077 Benign Spondyloepiphyseal_dysplasia . 0.69669 . Link to ClinVar
41157 49579 Benign Orofaciodigital_syndrome_I . 0.37669 . Link to ClinVar
94370 100270 Benign not_specified 0.33612 0.38384 . Link to ClinVar
691313 678986 Likely_benign Hypothyroidism,_central,_and_testicular_enlargement . . . Link to ClinVar
691312 678987 Likely_benign Hypothyroidism,_central,_and_testicular_enlargement . . . Link to ClinVar
93467 99372 Benign VACTERL_association_with_hydrocephalus
Hypothyroidism,_central,_and_testicular_enlargement
not_specified
Fanconi_Anemia,_X-Linked
not_provided		 0.56376 0.43364 . Link to ClinVar
691303 678995 Likely_benign Hypothyroidism,_central,_and_testicular_enlargement . . . Link to ClinVar
691297 679001 Likely_benign Hypothyroidism,_central,_and_testicular_enlargement . . . Link to ClinVar
368036 352786 Benign VACTERL_association_with_hydrocephalus
Hypothyroidism,_central,_and_testicular_enlargement
Fanconi_Anemia,_X-Linked		 . 0.52556 . Link to ClinVar
96644 102537 Benign/Likely_benign not_specified . . . Link to ClinVar
136713 140416 Benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.03976 0.01669 . Link to ClinVar
96546 102440 Benign History_of_neurodevelopmental_disorder
not_specified		 0.59425 0.6355 . Link to ClinVar
128994 134440 Likely_benign not_specified . 0.36318 . Link to ClinVar
368183 352823 Benign Non-syndromic_X-linked_intellectual_disability . . . Link to ClinVar
680543 670807 Benign not_provided . . . Link to ClinVar
94854 100754 Benign/Likely_benign Dilated_cardiomyopathy_3B
not_specified		 0.88361 0.80397 . Link to ClinVar
671240 671117 Benign not_provided . . . Link to ClinVar
672561 670811 Benign not_provided . . . Link to ClinVar
678092 669960 Benign not_provided . . . Link to ClinVar
678473 669963 Benign not_provided . . . Link to ClinVar
680541 671119 Benign not_provided . . . Link to ClinVar
680544 671121 Benign not_provided . . . Link to ClinVar
672560 670823 Benign not_provided . . . Link to ClinVar
671291 669971 Benign not_provided . . . Link to ClinVar
680538 671123 Benign not_provided . . . Link to ClinVar
680536 671124 Benign not_provided . . . Link to ClinVar
166667 177478 Benign Duchenne_muscular_dystrophy
not_specified		 0.90452 0.88185 . Link to ClinVar
94783 100683 Benign/Likely_benign Dilated_cardiomyopathy_3B
not_specified		 0.33978 0.32848 . Link to ClinVar
679287 670940 Benign not_provided . . . Link to ClinVar
672525 670949 Benign not_provided . . . Link to ClinVar
674303 670951 Benign not_provided . . . Link to ClinVar
671088 670832 Benign not_provided . . . Link to ClinVar
439609 433498 Benign not_specified
not_provided		 0.32935 0.32901 . Link to ClinVar
671238 669996 Benign not_provided . . . Link to ClinVar
672522 670967 Benign not_provided . . . Link to ClinVar
679286 670980 Benign not_provided . . . Link to ClinVar
94657 100557 Benign/Likely_benign Duchenne_muscular_dystrophy
Dilated_cardiomyopathy_3B
not_specified
Cardiovascular_phenotype
not_provided		 0.51417 0.46517 . Link to ClinVar
671085 670009 Benign not_provided . . . Link to ClinVar
672517 671134 Benign not_provided . . . Link to ClinVar
672488 670865 Benign not_provided . . . Link to ClinVar
680537 670867 Benign not_provided . . . Link to ClinVar
679284 670039 Benign not_provided . . . Link to ClinVar
94495 100395 Benign/Likely_benign Dilated_cardiomyopathy_3B
not_specified		 0.32035 0.41219 . Link to ClinVar
671082 670874 Benign not_provided . . . Link to ClinVar
671081 671141 Benign not_provided . . . Link to ClinVar
680546 670046 Benign not_provided . . . Link to ClinVar
680545 671024 Benign not_provided . . . Link to ClinVar
674341 671143 Benign not_provided . . . Link to ClinVar
671236 670883 Benign not_provided . . . Link to ClinVar
678471 670061 Benign not_provided . . . Link to ClinVar
98793 104683 Likely_benign not_specified
not_provided		 0.01873 0.04132 . Link to ClinVar
92856 98763 Benign not_specified 0.22818 0.37192 . Link to ClinVar
680701 671038 Benign not_provided . . . Link to ClinVar
676164 671150 Benign not_provided . . . Link to ClinVar
680703 670065 Benign not_provided . . . Link to ClinVar
95772 101669 Benign Oculofaciocardiodental_syndrome
History_of_neurodevelopmental_disorder
not_specified		 0.15765 0.13669 . Link to ClinVar
668777 670927 Benign not_provided . . . Link to ClinVar
680088 671054 Benign not_provided . . . Link to ClinVar
668858 670096 Benign not_provided . . . Link to ClinVar
368312 352863 Benign Retinitis_pigmentosa_15 . 0.98358 . Link to ClinVar
368331 352254 Benign Spinal_muscular_atrophy,_X-linked_2
not_specified
not_provided		 . 0.97113 . Link to ClinVar
368382 352264 Benign Non-syndromic_X-linked_intellectual_disability . 0.77934 . Link to ClinVar
720215 729615 Benign not_provided . . . Link to ClinVar
96364 102258 Benign History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.38082 0.36874 . Link to ClinVar
402535 390437 Benign not_specified 0.22872 0.20689 . Link to ClinVar
158531 170112 Benign not_specified . 0.31523 . Link to ClinVar
95309 101208 Benign Renpenning_syndrome_1
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.61238 0.62543 . Link to ClinVar
197791 194952 Benign not_specified 0.08107 0.01748 . Link to ClinVar
166778 177540 Benign/Likely_benign not_specified
not_provided		 0.05281 0.01881 . Link to ClinVar
284920 269157 Benign not_specified 0.55627 0.47523 . Link to ClinVar
804001 792471 Benign Dent_disease_1 . . . Link to ClinVar
95973 101869 Benign not_specified . 0.29987 . Link to ClinVar
95971 101867 Benign not_specified . . . Link to ClinVar
94872 100772 Benign not_specified 0.89198 0.73033 . Link to ClinVar
683643 671165 Benign not_provided . . . Link to ClinVar
95364 101263 Benign not_specified
Cornelia_de_Lange_Syndrome		 0.51629 0.39841 . Link to ClinVar
96203 102097 Benign History_of_neurodevelopmental_disorder
not_specified		 0.99734 0.99497 . Link to ClinVar
129253 134699 Benign History_of_neurodevelopmental_disorder
not_specified		 0.48955 0.38967 . Link to ClinVar
96550 102443 Benign not_specified 0.97372 0.91444 . Link to ClinVar
667774 671077 Benign not_provided . . . Link to ClinVar
667771 671168 Benign not_provided . . . Link to ClinVar
667769 670134 Benign not_provided . . . Link to ClinVar
44207 53374 Benign not_specified 0.34418 0.22172 . Link to ClinVar
287265 271502 Benign not_specified 0.33432 0.34676 . Link to ClinVar
670932 670962 Benign not_provided . . . Link to ClinVar
259633 257867 Benign/Likely_benign not_specified
not_provided		 0.23317 0.11126 . Link to ClinVar
683968 670964 Benign not_provided . . . Link to ClinVar
674293 671170 Benign not_provided . . . Link to ClinVar
95257 101156 Benign not_specified
not_provided		 0.22298 0.11417 . Link to ClinVar
674530 670970 Benign not_provided . . . Link to ClinVar
673346 671172 Benign not_provided . . . Link to ClinVar
674295 671173 Benign not_provided . . . Link to ClinVar
673347 671078 Benign not_provided . . . Link to ClinVar
674531 670973 Benign not_provided . . . Link to ClinVar
674532 670976 Benign not_provided . . . Link to ClinVar
95248 101147 Benign History_of_neurodevelopmental_disorder
not_specified
Cardiovascular_phenotype
not_provided		 0.24611 0.11099 . Link to ClinVar
259637 257871 Benign not_specified
not_provided		 0.23837 0.11815 . Link to ClinVar
674533 671174 Benign not_provided . . . Link to ClinVar
674534 670982 Benign not_provided . . . Link to ClinVar
683154 670983 Benign not_provided . . . Link to ClinVar
673789 671175 Benign not_provided . . . Link to ClinVar
673790 670148 Benign not_provided . . . Link to ClinVar
673791 670986 Benign not_provided . . . Link to ClinVar
673349 671081 Benign not_provided . . . Link to ClinVar
667467 670162 Benign not_provided . . . Link to ClinVar
159903 170185 Likely_benign not_specified 0.60577 0.34384 . Link to ClinVar
678099 671086 Benign not_provided . . . Link to ClinVar
92384 98295 Benign Menkes_kinky-hair_syndrome
History_of_neurodevelopmental_disorder
not_specified		 1 1 . Link to ClinVar
368680 352952 Benign Non-syndromic_X-linked_intellectual_disability . 0.52106 . Link to ClinVar
368720 339605 Benign Non-syndromic_X-linked_intellectual_disability . . . Link to ClinVar
281080 265317 Benign not_specified 0.9972 0.98967 . Link to ClinVar
811240 800324 Benign Deafness,_X-linked_2 . . . Link to ClinVar
130847 136291 Benign Non-syndromic_X-linked_intellectual_disability
not_specified		 . 0.23364 . Link to ClinVar
368751 339626 Benign Non-syndromic_X-linked_intellectual_disability . 0.23311 . Link to ClinVar
368755 349119 Benign Premature_ovarian_failure_2b
Non-syndromic_X-linked_intellectual_disability		 . 0.23338 . Link to ClinVar
368762 352978 Benign Premature_ovarian_failure_2b
Non-syndromic_X-linked_intellectual_disability		 . 0.23311 . Link to ClinVar
368763 352979 Benign Premature_ovarian_failure_2b
Non-syndromic_X-linked_intellectual_disability		 . 0.23391 . Link to ClinVar
368767 352466 Benign Premature_ovarian_failure_2b . 0.23417 . Link to ClinVar
368771 352983 Benign Premature_ovarian_failure_2b . 0.13589 . Link to ClinVar
368776 352985 Benign Premature_ovarian_failure_2b . 0.23391 . Link to ClinVar
368780 339631 Benign Premature_ovarian_failure_2b 0.62123 0.98861 . Link to ClinVar
368787 352472 Benign Premature_ovarian_failure_2b 0.853 0.91205 . Link to ClinVar
670593 670946 Benign not_provided . . . Link to ClinVar
670592 669731 Benign not_provided . . . Link to ClinVar
670790 670948 Benign not_provided . . . Link to ClinVar
667526 670691 Benign not_provided . . . Link to ClinVar
691856 679561 Benign not_specified . . . Link to ClinVar
691854 679563 Benign not_specified . . . Link to ClinVar
670482 669752 Benign not_provided . . . Link to ClinVar
258270 257731 Benign not_specified 0.99511 0.98384 . Link to ClinVar
258267 257734 Benign not_specified 0.68513 0.57325 . Link to ClinVar
369632 353861 Benign Non-syndromic_X-linked_intellectual_disability . . . Link to ClinVar
238289 243731 Benign History_of_neurodevelopmental_disorder
Epileptic_encephalopathy,_early_infantile,_36
not_specified		 0.01862 0.0053 . Link to ClinVar
676336 656729 Benign not_provided . . . Link to ClinVar
9885 24924 Benign SEROTONIN_5-HT-2C_RECEPTOR_POLYMORPHISM
not_provided		 0.15437 0.16583 . Link to ClinVar
684056 670784 Benign not_provided . . . Link to ClinVar
673765 670789 Benign not_provided . . . Link to ClinVar
670475 670985 Benign not_provided . . . Link to ClinVar
684051 670993 Benign not_provided . . . Link to ClinVar
367743 351990 Likely_benign Hypertrophic_cardiomyopathy
Danon_disease		 . 0.70967 . Link to ClinVar
679266 669829 Benign not_provided . . . Link to ClinVar
367863 348434 Benign Lymphoproliferative_syndrome 0.04183 0.02172 . Link to ClinVar
367875 348443 Benign Lymphoproliferative_syndrome . . . Link to ClinVar
367885 352057 Benign Lymphoproliferative_syndrome . 0.18861 . Link to ClinVar
804084 792121 Benign Lowe_syndrome . . . Link to ClinVar
11567 26606 risk_factor Angioedema_induced_by_ACE_inhibitors,_susceptibility_to . 0.23099 . Link to ClinVar
197828 194989 Benign not_specified 0.90696 0.80053 . Link to ClinVar
683838 670718 Benign not_provided . . . Link to ClinVar
677968 670721 Benign not_provided . . . Link to ClinVar
367892 352059 Benign Deafness,_X-linked_5
Combined_oxidative_phosphorylation_deficiency
not_provided		 0.43294 0.49113 . Link to ClinVar
677967 670810 Benign not_provided . . . Link to ClinVar
257593 257749 Benign Hypothyroidism,_central,_and_testicular_enlargement
not_specified		 0.96828 0.90623 . Link to ClinVar
670935 670725 Benign not_provided . . . Link to ClinVar
94028 99930 Benign not_specified 0.98291 0.95417 . Link to ClinVar
92619 98527 Benign Mucopolysaccharidosis,_MPS-II
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.27831 0.19258 . Link to ClinVar
159450 170076 Benign not_specified 0.87637 0.86146 . Link to ClinVar
518408 508950 Benign Spinocerebellar_ataxia,_X-linked_1 0.99696 0.98861 . Link to ClinVar
518409 508951 Benign Spinocerebellar_ataxia,_X-linked_1 0.99668 0.98543 . Link to ClinVar
518410 508952 Benign Spinocerebellar_ataxia,_X-linked_1 0.98221 0.9457 . Link to ClinVar
518411 508953 Benign Spinocerebellar_ataxia,_X-linked_1 0.5286 0.47391 . Link to ClinVar
518412 508954 Benign Spinocerebellar_ataxia,_X-linked_1 0.93166 0.88106 . Link to ClinVar
130355 135802 Benign Creatine_deficiency,_X-linked
History_of_neurodevelopmental_disorder
not_specified
not_provided		 1 . . Link to ClinVar
439347 433335 Benign not_specified 0.65042 0.61351 . Link to ClinVar
166627 177456 Benign/Likely_benign Adrenoleukodystrophy
History_of_neurodevelopmental_disorder
not_specified
not_provided		 . 0.01033 . Link to ClinVar
92313 98224 Benign Adrenoleukodystrophy
History_of_neurodevelopmental_disorder
not_specified
not_provided		 0.71965 0.7404 . Link to ClinVar
368066 352124 Benign Adrenoleukodystrophy . 0.73113 . Link to ClinVar
368067 339037 Benign Adrenoleukodystrophy . 0.45987 . Link to ClinVar
369635 353864 Benign Adrenoleukodystrophy . 0.73854 . Link to ClinVar
804115 792154 Benign X-linked_hydrocephalus_syndrome . . . Link to ClinVar
804116 792155 Benign X-linked_hydrocephalus_syndrome . . . Link to ClinVar
804117 792156 Likely_benign X-linked_hydrocephalus_syndrome . . . Link to ClinVar
254772 257778 Benign/Likely_benign Nephrogenic_diabetes_insipidus
Nephrogenic_diabetes_insipidus,_X-linked
Nephrogenic_syndrome_of_inappropriate_antidiuresis
not_specified		 0.9993 0.99921 . Link to ClinVar
402391 390496 Benign not_specified 0.59133 0.7049 . Link to ClinVar
95281 101180 Benign not_specified 0.43199 0.19126 . Link to ClinVar
156056 165852 Benign not_specified
not_provided		 . 0.63046 . Link to ClinVar
167075 177710 Benign/Likely_benign Connective_tissue_disorder
not_specified
not_provided		 0.00055 0.00053 . Link to ClinVar
670955 669893 Benign not_provided . . . Link to ClinVar
95327 101226 Benign History_of_neurodevelopmental_disorder
not_specified		 0.82608 0.66887 . Link to ClinVar
368091 352797 Benign Endocardial_fibroelastosis
Left_ventricular_noncompaction_cardiomyopathy
3-Methylglutaconic_aciduria_type_2
Dilated_cardiomyopathy_3B		 . . . Link to ClinVar
129149 134595 Benign History_of_neurodevelopmental_disorder
not_specified		 0.18882 0.29086 . Link to ClinVar
726401 743254 Likely_benign not_provided . . . Link to ClinVar
368096 352799 Likely_benign Glucose_6_phosphate_dehydrogenase_deficiency . 0.41536 . Link to ClinVar
93494 99399 Benign/Likely_benign Glucose_6_phosphate_dehydrogenase_deficiency
not_specified		 0.25439 0.41483 . Link to ClinVar
166994 177673 Benign/Likely_benign Dyskeratosis_congenita_X-linked
not_specified		 0.99744 0.99258 . Link to ClinVar
368105 339078 Benign Hemophilia_A,_FVIII_Deficiency . 0.55603 . Link to ClinVar
368133 339086 Benign Non-syndromic_X-linked_intellectual_disability . 0.40397 . Link to ClinVar
93695 99598 Benign not_specified 0.28438 0.35417 . Link to ClinVar
Variant ID Chromosome Position Ref Alt Allele ID Clinical Significance Disease Name Frequency GO-ESP Frequency EXAC Frequency 1000 Genomes Project GT Zygosity URL
0 263159 1 977570 G A 249309 Benign not_specified|not_provided 0.77412 0.89464 0.79413 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1 677947 1 977780 C T 656915 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2 263160 1 978603 CCT C 249310 Benign not_specified 0.39941 0.56094 0.47923 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3 677948 1 980460 G A 656961 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4 263172 1 981087 A G 249321 Benign not_specified|not_provided 0.83208 0.91275 0.86941 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5 263175 1 981328 C G 249324 Likely_benign not_specified 0.00023 0.00018 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6 128297 1 981931 A G 133746 Benign not_specified 0.78022 0.87675 0.79772 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7 677950 1 982444 A G 656892 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8 677951 1 982462 T C 656963 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9 677952 1 982513 T C 656900 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10 263181 1 982941 T C 249331 Benign not_specified 0.76657 . 0.79992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11 128302 1 982994 T C 133751 Benign not_specified 0.79117 0.89893 0.83586 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12 679293 1 984171 CAG C 656918 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13 128307 1 984302 T C 133756 Benign not_specified 0.45863 0.62948 0.54573 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
14 263188 1 985266 C T 249338 Benign not_specified 0.40222 0.54365 0.49521 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
15 263191 1 985446 G T 249341 Benign not_specified . 0.45665 0.33546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
16 263192 1 985449 G A 249342 Benign not_specified . 0.53006 0.52556 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
17 677954 1 986443 C T 656926 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
18 128317 1 987200 C T 133766 Benign not_specified 0.75692 0.87569 0.78874 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
19 677955 1 988932 G C 656939 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
20 128319 1 990280 C T 133768 Benign not_specified 0.57916 0.63764 0.58526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
21 256824 1 1956362 G A 249668 Benign not_specified 0.8197 0.80444 0.77556 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
22 256823 1 1957037 T C 249669 Benign not_specified|not_provided 0.6843 0.59339 0.5613 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
23 672361 1 2234251 A G 657433 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
24 673794 1 2234903 C T 657434 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
25 262791 1 2337277 C T 249841 Benign/Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.08205 0.15296 0.08087 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
26 135349 1 2488153 A G 139088 not_provided not_specified 0.55803 0.54431 0.61482 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
27 133399 1 2490609 T C 137138 not_provided not_specified . 0.00613 0.0014 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
28 133404 1 2490898 C A 137143 not_provided not_specified . 0.58991 0.64078 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
29 133406 1 2490942 C A 137145 not_provided not_specified . . 0.59784 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
30 133414 1 2491205 C T 137153 not_provided not_specified . 0.65961 0.64397 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
31 135355 1 2494330 G A 139094 not_provided not_specified 0.12333 0.12953 0.11382 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
32 674706 1 2985885 C G 657839 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
33 674729 1 3312963 C T 657891 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
34 674731 1 3313282 G A 657892 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
35 683706 1 3319061 A G 657896 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
36 674732 1 3319674 C T 657843 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
37 674733 1 3319681 C G 657844 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
38 674735 1 3321134 G A 657849 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
39 669552 1 3321715 G C 657852 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
40 227026 1 3328358 T C 228438 Benign Left_ventricular_noncompaction_8|not_specified 0.87774 . 0.94509 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
41 227027 1 3328659 C T 228440 Benign not_specified 0.15231 0.13103 0.10603 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
42 381194 1 3329384 C T 365234 Benign not_specified 0.13828 0.21551 0.10703 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
43 678600 1 3330884 G A 657927 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
44 674714 1 3342530 G A 657890 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
45 683707 1 3348268 G C 657895 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
46 260559 1 5925371 G A 249994 Benign not_specified 0.3379 0.44579 0.31789 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
47 95683 1 5926507 T C 101580 Benign Nephronophthisis|Renal_dysplasia_and_retinal_a... 0.34902 0.46043 0.31969 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
48 260554 1 5934490 A G 249999 Benign not_specified 0.67292 0.65657 0.56929 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
49 260553 1 5934500 T C 250000 Benign not_specified 0.17498 0.31427 0.27117 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
50 167375 1 5935162 A T 177885 Benign Nephronophthisis_4|not_specified|not_provided 0.84313 0.83625 0.84325 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
51 260547 1 5937391 C T 250004 Benign not_specified 0.85155 0.81079 0.83267 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
52 682801 1 6517179 G C 658000 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
53 682802 1 6520024 C A 658028 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
54 297904 1 6526183 G A 281043 Benign Distal_spinal_muscular_atrophy 0.16589 0.16938 0.20228 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
55 297905 1 6526202 CCGTGCTCT C 281645 Benign Distal_spinal_muscular_atrophy . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
56 297906 1 6526240 GCGCC G 281648 Benign Distal_spinal_muscular_atrophy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
57 297910 1 6526319 C T 281658 Likely_benign Distal_spinal_muscular_atrophy . . 0.08626 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
58 297912 1 6526465 C G 283150 Benign Distal_spinal_muscular_atrophy . . 0.20427 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
59 297916 1 6526633 G A 283153 Benign Distal_spinal_muscular_atrophy . . 0.20108 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
60 297928 1 6527333 A G 282866 Benign Distal_spinal_muscular_atrophy . . 0.26697 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
61 667940 1 6527745 C T 658030 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
62 285568 1 6528589 C T 269805 Benign/Likely_benign Distal_spinal_muscular_atrophy|not_specified 0.06261 0.05353 0.05571 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
63 194979 1 6529182 TTCC T 192141 Benign/Likely_benign Distal_spinal_muscular_atrophy|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
64 194881 1 6529443 A G 192043 Benign Distal_spinal_muscular_atrophy|not_specified 0.28718 0.17234 0.26957 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
65 667938 1 6530189 G A 657887 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
66 670557 1 6530965 C CG 657962 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
67 297959 1 6531589 C T 281077 Likely_benign Distal_spinal_muscular_atrophy 0.06775 0.06293 0.05531 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
68 198895 1 6533393 G C 196055 Benign Distal_spinal_muscular_atrophy|not_specified 0.2727 0.22124 0.28574 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
69 667937 1 6534781 G A 658029 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
70 298113 1 8021778 T C 283315 Benign Parkinson_Disease,_Recessive . . 0.63738 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
71 721172 1 8568701 G A 719112 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
72 260540 1 10338204 C T 249268 Benign not_specified 0.03083 0.03267 0.01458 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
73 129400 1 10421878 A G 134846 Benign/Likely_benign Pheochromocytoma|Neuroblastoma|Charcot-Marie-T... 0.09034 0.11276 0.08027 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
74 291606 1 10437778 C T 275918 Likely_benign Pheochromocytoma|Neuroblastoma|Charcot-Marie-T... . . 0.09365 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
75 291608 1 10437804 G A 275756 Likely_benign Pheochromocytoma|Neuroblastoma|Charcot-Marie-T... . . 0.09365 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
76 291609 1 10437995 G GA 275764 Uncertain_significance Pheochromocytoma|Neuroblastoma|Charcot-Marie-T... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
77 291618 1 10438687 C T 275844 Benign Pheochromocytoma|Neuroblastoma|Charcot-Marie-T... . . 0.54653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
78 368794 1 10441664 T C 353023 Benign Pheochromocytoma|Neuroblastoma|Charcot-Marie-T... . . 0.52696 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
79 95145 1 10678488 A T 101045 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.18653 0.15787 0.19489 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
80 167454 1 10689942 G T 177935 Benign/Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.14082 0.15776 0.10363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
81 522225 1 11080723 T TG 512791 Benign Amyotrophic_lateral_sclerosis_type_10 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
82 291763 1 11085004 A ATGTTT 276114 Benign Frontotemporal_dementia|MASP2_deficiency|Amyot... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
83 291772 1 11086717 A G 275885 Benign Frontotemporal_dementia|MASP2_deficiency|Amyot... . . 0.70967 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
84 291781 1 11087524 G A 275846 Benign Frontotemporal_dementia|MASP2_deficiency|not_s... 0.67315 0.7855 0.6875 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
85 291785 1 11090897 A G 275927 Likely_benign MASP2_deficiency 0.05536 0.05285 0.11841 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
86 291790 1 11097867 C T 275866 Benign MASP2_deficiency 0.0835 0.06177 0.13139 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
87 516652 1 11181327 C T 497964 Benign not_specified 0.30209 0.21844 0.22065 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
88 380311 1 11190646 G A 364358 Benign not_specified 0.30594 0.22152 0.22863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
89 516653 1 11301714 A G 498006 Benign not_specified 0.58535 0.71698 0.63958 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
90 291872 1 11346336 A G 275981 Likely_benign Schnyder_crystalline_corneal_dystrophy . . 0.00919 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
91 291887 1 11347155 C CTGTT 276079 Benign Schnyder_crystalline_corneal_dystrophy . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
92 292153 1 11846092 G GT 276302 Benign Neural_tube_defects,_folate-sensitive . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
93 292158 1 11846252 G A 276582 Likely_benign Neural_tube_defects,_folate-sensitive . . 0.70647 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
94 292160 1 11846447 G A 276602 Benign Neural_tube_defects,_folate-sensitive . . 0.93331 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
95 292171 1 11847334 G GGAA 276604 Likely_benign Neural_tube_defects,_folate-sensitive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
96 292181 1 11847759 C T 276668 Likely_benign Neural_tube_defects,_folate-sensitive . . 0.55851 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
97 292191 1 11848139 G A 276111 Likely_benign Neural_tube_defects,_folate-sensitive . 0.23678 0.1268 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
98 292203 1 11848879 A G 276650 Benign Neural_tube_defects,_folate-sensitive . . 0.93051 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
99 292209 1 11849447 A G 276356 Benign Neural_tube_defects,_folate-sensitive . 0.98712 0.93291 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
100 292223 1 11850365 T G 276753 Likely_benign Neural_tube_defects,_folate-sensitive . . 0.6284 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
101 167306 1 11854457 G A 177842 Benign Neural_tube_defects,_folate-sensitive|not_spec... 0.89051 0.96966 0.90296 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
102 3521 1 11854476 T G 18560 Conflicting_interpretations_of_pathogenicity,_... Schizophrenia,_susceptibility_to|Gastrointesti... 0.25957 0.295 0.2494 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
103 3520 1 11856378 G A 18559 drug_response Venous_thrombosis|Neoplasm_of_stomach|Gastroin... 0.27057 0.30367 0.24541 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
104 683180 1 12052405 G A 657052 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
105 439571 1 15769139 G A 432974 Benign not_specified . . 0.18291 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
106 439565 1 15770101 C A 432977 Benign Hereditary_pancreatitis 0.22882 . 0.17133 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
107 439563 1 15772057 G T 432983 Benign Hereditary_pancreatitis 0.37075 . 0.35763 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
108 585697 1 16351275 A G 576424 Benign Bartter_syndrome,_type_4b|not_provided 0.60088 0.56364 0.64297 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
109 585696 1 16358932 T C 576425 Benign not_provided 0.69522 0.68822 0.749 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
110 447107 1 16371067 G T 440382 Benign not_specified|not_provided 0.5263 . 0.55551 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
111 447104 1 16373124 A G 440387 Benign not_specified|not_provided 0.67215 0.80223 0.74042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
112 447105 1 16374533 G C 440388 Benign not_specified|not_provided 0.87844 0.92984 0.89397 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
113 381050 1 16374994 C T 364523 Benign/Likely_benign not_specified|not_provided . 0.8008 0.73862 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
114 789426 1 16375063 CA GC 706794 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
115 447108 1 16376191 C T 440389 Benign not_specified|not_provided . 0.90963 0.82987 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
116 377683 1 16376319 T C 364524 Benign not_specified|not_provided 0.81509 0.91135 0.83007 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
117 504914 1 16377108 G C 496594 Benign not_specified 0.18092 0.23137 0.16254 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
118 447094 1 16380196 T C 440394 Benign not_specified 0.88825 0.93101 0.83826 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
119 447096 1 16380243 A G 440395 Benign not_specified|not_provided 0.70083 0.65857 0.70168 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
120 447097 1 16380252 C T 440396 Benign not_specified|not_provided 0.61133 0.62103 0.61362 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
121 293400 1 16451413 C T 278005 Benign Age-related_cortical_cataract . . 0.90575 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
122 767658 1 17250836 A G 696246 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
123 772652 1 17272037 G A 696248 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
124 128475 1 17312743 C T 133924 Benign Parkinson_disease_9|History_of_neurodevelopmen... 0.42132 0.50653 0.33127 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
125 559000 1 17313157 G A 549503 Benign not_provided 0.42318 0.49582 0.34685 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
126 128473 1 17313343 G A 133922 Benign Parkinson_disease_9|History_of_neurodevelopmen... 0.41642 0.46479 0.33846 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
127 128470 1 17313654 C T 133919 Benign Parkinson_disease_9|History_of_neurodevelopmen... 0.42556 0.46386 0.34625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
128 128466 1 17314942 G A 133915 Benign Parkinson_disease_9|History_of_neurodevelopmen... 0.41542 0.45895 0.33866 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
129 128465 1 17319011 G A 133914 Benign Parkinson_disease_9|History_of_neurodevelopmen... 0.56928 0.55397 0.44848 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
130 703790 1 17328301 T C 695018 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
131 258889 1 17359676 C A 249532 Benign not_specified 0.95233 0.97189 0.95907 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
132 44641 1 17380497 G T 53808 Benign Pheochromocytoma|Hereditary_cancer-predisposin... 0.95147 . 0.95707 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
133 590790 1 17662639 T C 581729 association Rheumatoid_arthritis 0.53975 0.56192 0.51518 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
134 294367 1 19201928 C T 279073 Likely_benign Hyperprolinemia 0.11203 0.10439 0.04792 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
135 294382 1 19203997 C G 278123 Benign Hyperprolinemia 0.71154 0.70717 0.64157 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
136 262027 1 20964328 A G 249677 Benign not_specified|Parkinson_Disease,_Recessive|not... 0.84338 0.86228 0.82189 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
137 262028 1 20972048 G A 249678 Benign not_specified|Parkinson_Disease,_Recessive|not... 0.84423 0.86276 0.82069 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
138 295004 1 20972111 G A 278643 Benign/Likely_benign Parkinson_disease_6,_autosomal_recessive_early... 0.03744 0.09211 0.1228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
139 295006 1 20977000 A C 279809 Benign/Likely_benign Congenital_disorder_of_glycosylation|Parkinson... 0.27003 0.29739 0.30052 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
140 295011 1 20977221 A T 278644 Benign Congenital_disorder_of_glycosylation|Parkinson... 0.85335 0.86389 0.83447 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
141 295013 1 20977365 C G 278645 Benign Congenital_disorder_of_glycosylation|Parkinson... . . 0.83666 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
142 295014 1 20977380 T C 278656 Likely_benign Congenital_disorder_of_glycosylation|Parkinson... . . 0.30012 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
143 295021 1 20977710 C CAGTA 278548 Uncertain_significance Parkinson_Disease,_Recessive . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
144 295024 1 20977748 T G 279966 Likely_benign Congenital_disorder_of_glycosylation|Parkinson... . . 0.29992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
145 295030 1 20977856 T C 279967 Likely_benign Congenital_disorder_of_glycosylation|Parkinson... . . 0.30272 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
146 295031 1 20977907 A AAGAG 278679 Likely_benign Congenital_disorder_of_glycosylation|Parkinson... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
147 295057 1 20978832 T C 279865 Benign Congenital_disorder_of_glycosylation|Parkinson... 0.84402 . 0.82488 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
148 258081 1 21571601 G A 249711 Benign not_specified 0.20798 0.24052 0.16014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
149 258080 1 21573722 G A 249712 Benign not_specified 0.19699 0.22041 0.14677 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
150 197678 1 21889635 T C 194839 Benign not_specified 0.92173 0.94498 0.92951 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
151 295558 1 21904206 C T 279050 Benign Hypophosphatasia . . 0.33666 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
152 295561 1 21904267 A G 278910 Benign Hypophosphatasia . . 0.86821 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
153 295563 1 21904374 A C 278914 Benign Hypophosphatasia . . 0.16454 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
154 295571 1 21904826 A AT 278920 Likely_benign Hypophosphatasia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
155 295685 1 22149183 G C 280433 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... . . 0.31989 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
156 295695 1 22149935 T C 280437 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.79233 . 0.78035 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
157 295700 1 22150120 C T 280442 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.14593 0.18487 0.17612 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
158 295701 1 22150160 G T 278997 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.12956 . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
159 295707 1 22154845 A G 279137 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.25235 0.29821 0.25719 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
160 439796 1 22155723 T C 433613 Benign not_specified . . 0.76338 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
161 618168 1 22155841 T C 609379 Benign not_specified 0.13063 0.18207 0.15635 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
162 618169 1 22155853 C T 609380 Benign not_specified 0.14532 0.18471 0.17153 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
163 295723 1 22159008 C A 280489 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.13248 . 0.15775 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
164 295729 1 22160111 C T 280462 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.13294 0.17575 0.16414 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
165 295733 1 22161275 G A 279065 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.13325 0.17476 0.15955 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
166 295750 1 22165901 A G 280514 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.34992 0.28757 0.34605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
167 295753 1 22165987 G A 279250 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.12464 0.1728 0.15216 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
168 295787 1 22174600 A G 280605 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.78387 0.81156 0.76198 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
169 291236 1 22191454 G A 275473 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.69914 0.74631 0.69149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
170 285755 1 22199245 C T 269992 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.52469 0.60665 0.42492 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
171 295864 1 22202109 C T 279443 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.94087 0.98374 0.94229 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
172 295881 1 22206649 T C 280764 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.93518 . 0.92991 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
173 295882 1 22206942 G A 280765 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.93518 0.98118 0.92991 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
174 295887 1 22207235 T C 279454 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.97566 0.99312 0.97364 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
175 439797 1 22208030 C T 433614 Benign not_specified 0.92688 0.96877 0.92592 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
176 295910 1 22216574 C A 280779 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.55029 0.57694 0.44449 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
177 295912 1 22216604 C G 280780 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.55036 . 0.44449 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
178 295913 1 22217108 G A 280781 Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom... 0.95379 0.98608 0.94808 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
179 138926 1 24018277 C G 142629 Benign Diamond-Blackfan_anemia 0.98385 0.99463 0.97684 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
180 92889 1 24122986 C T 98796 Benign UDPglucose-4-epimerase_deficiency|not_specified 0.53492 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
181 296841 1 24128467 C T 281738 Benign Deficiency_of_hydroxymethylglutaryl-CoA_lyase|... . . 0.88339 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
182 684182 1 24134462 C T 657772 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
183 92602 1 24134721 T C 98510 Benign Deficiency_of_hydroxymethylglutaryl-CoA_lyase|... 0.92627 0.9042 0.88738 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
184 673763 1 24141011 C T 657752 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
185 255488 1 24143932 A G 249839 Benign not_specified 0.9265 0.90528 0.88778 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
186 683937 1 24180613 C G 657778 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
187 683932 1 24180623 T C 657780 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
188 691 1 24180962 T C 15730 Benign FU1/FU2_POLYMORPHISM|Fucosidosis|not_provided . 0.27912 0.21126 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
189 683990 1 24181177 C T 657784 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
190 683986 1 24191720 A G 657770 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
191 683925 1 24192200 A G 657786 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
192 296993 1 25893927 AT A 280237 Benign Familial_hypercholesterolemia_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
193 297006 1 25894468 C CTG 281950 Benign Familial_hypercholesterolemia_1 . . 0.90336 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
194 297011 1 25894853 G T 282036 Benign Familial_hypercholesterolemia_1 . . 0.57109 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
195 297021 1 25895238 C T 280262 Benign Familial_hypercholesterolemia_1 . . 0.56929 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
196 680991 1 26126375 A G 657812 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
197 669827 1 26127425 G A 657800 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
198 669828 1 26128307 C T 657807 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
199 95963 1 26131654 G A 101859 Benign Eichsfeld_type_congenital_muscular_dystrophy|n... . 0.81443 0.84185 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
200 680776 1 26135913 T C 657744 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
201 669830 1 26136452 A C 657813 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
202 261271 1 26138136 C A 249869 Benign not_specified|not_provided 0.6848 0.78613 0.74701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
203 95956 1 26138262 T C 101852 Benign Eichsfeld_type_congenital_muscular_dystrophy|n... 0.73717 0.81325 0.79193 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
204 669832 1 26138451 A G 657821 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
205 261274 1 26139137 C T 249873 Benign not_specified|not_provided 0.63714 0.79443 0.69768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
206 669834 1 26139392 A G 657829 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
207 669835 1 26139444 G A 657815 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
208 95959 1 26140573 C A 101855 Benign Eichsfeld_type_congenital_muscular_dystrophy|n... 0.63195 0.77473 0.69748 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
209 669836 1 26141803 G T 657819 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
210 297050 1 26143821 T C 282081 Benign SEPN1-Related_Disorders . . 0.76298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
211 297053 1 26143931 T C 280308 Benign SEPN1-Related_Disorders . . 0.86222 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
212 297061 1 26144437 TC T 280694 Uncertain_significance SEPN1-Related_Disorders . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
213 297106 1 26797654 C T 282168 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.09964 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
214 635265 1 29145188 C T 623097 drug_response buprenorphine_response_-_Efficacy . . 0.45907 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
215 297151 1 33245802 C G 282106 Benign Charcot-Marie-Tooth_disease,_dominant_intermed... 0.0988 0.09819 0.08746 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
216 670891 1 33247797 G T 657853 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
217 670337 1 33251739 T C 657748 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
218 670336 1 33252887 T C 657861 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
219 670889 1 33256645 G C 657834 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
220 670888 1 33256884 C A 657841 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
221 670335 1 33276424 G A 657749 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
222 297163 1 33282775 C A 280382 Benign not_specified|Charcot-Marie-Tooth,_Intermediate 0.0968 0.0976 0.08566 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
223 297175 1 33283528 G A 280750 Benign Charcot-Marie-Tooth,_Intermediate|not_provided . . 0.0603 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
224 297196 1 35251229 G A 280761 Benign Erythrokeratodermia_variabilis_et_progressiva_... . . 0.40395 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
225 297204 1 35251545 G C 282177 Benign Erythrokeratodermia_variabilis_et_progressiva_... . . 0.25819 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
226 297210 1 35251735 G C 282201 Benign Erythrokeratodermia_variabilis_et_progressiva_... . . 0.21286 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
227 256790 1 36937059 A G 249885 Benign not_specified 0.60857 0.56481 0.59245 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
228 256789 1 36937065 A G 249886 Benign not_specified 0.29971 0.31561 0.24641 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
229 434837 1 36939403 C G 427809 Benign/Likely_benign not_specified|not_provided 0.00346 0.00299 0.0012 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
230 684263 1 40319375 C T 656850 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
231 684262 1 40319379 T C 656853 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
232 297230 1 40539076 C T 280445 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.66733 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
233 297233 1 40539203 A ATGAT 280826 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.61402 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
234 297234 1 40539228 G C 282406 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.66074 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
235 297240 1 40539448 A C 282423 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.66114 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
236 668044 1 40555321 C T 657872 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
237 670733 1 40557656 G A 657899 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
238 668040 1 40558345 T A 657789 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
239 684006 1 40558459 G GGCATGTGAAAA 657790 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
240 684001 1 40558511 A G 657791 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
241 297250 1 40562993 T C 280858 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.83267 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
242 140502 1 40722795 G A 150180 not_provided not_provided . . 0.21805 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
243 140525 1 40733658 A G 150203 not_provided not_provided . . 0.22264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
244 140535 1 40737516 T G 150213 Benign not_specified|not_provided 0.98985 0.98587 0.99321 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
245 140538 1 40741899 C T 150216 not_provided not_provided . . 0.91354 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
246 258399 1 40773149 T C 249913 Benign Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp... 0.2781 0.30335 0.39736 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
247 683426 1 40774194 A C 657914 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
248 258392 1 40776752 C A 249920 Benign Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp... 0.12271 . 0.17812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
249 258387 1 40777800 T G 249924 Benign not_specified 0.27227 . 0.40156 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
250 258385 1 40778377 C T 249927 Benign not_specified 0.23773 . 0.3744 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
251 668734 1 40781613 T C 657886 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
252 45104 1 41284366 G C 54271 Benign DFNA_2_Nonsyndromic_Hearing_Loss|not_specified 0.6917 0.67575 0.56749 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
253 45105 1 41285087 T C 54272 Benign DFNA_2_Nonsyndromic_Hearing_Loss|not_specified 0.6763 0.65118 0.5633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
254 402571 1 41466803 G A 389436 Benign not_specified 0.33323 0.4048 0.33307 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
255 402941 1 41976328 T C 389395 Benign not_specified 0.96907 0.98898 0.96306 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
256 402943 1 41979156 A G 389444 Benign not_specified 0.62167 0.66873 0.73443 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
257 402944 1 42046613 G T 389407 Benign not_specified 0.18845 . 0.12121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
258 402945 1 42046812 C T 389445 Benign not_specified 0.97893 0.99344 0.97724 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
259 402946 1 42049032 G A 389449 Benign not_specified 0.95494 0.98681 0.94928 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
260 402947 1 42049140 C G 389454 Benign not_specified 0.95502 0.98685 0.94928 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
261 297335 1 43200526 T C 280544 Benign Renal_Hypomagnesemia,_Recessive . . 0.60683 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
262 194558 1 43212431 A G 191721 Likely_benign not_specified . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
263 674901 1 43213499 C T 657889 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
264 667664 1 43213610 T C 657900 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
265 667663 1 43215571 A G 657995 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
266 667661 1 43227867 G A 657824 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
267 674899 1 43228189 T A 657940 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
268 674898 1 43232807 C G 657944 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
269 297374 1 43392250 C G 282346 Benign Dystonia|Glucose_transporter_type_1_deficiency... . . 0.38339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
270 95414 1 43395635 C T 101313 Benign Dystonia|Glucose_transporter_type_1_deficiency... 0.15116 . 0.11961 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
271 95411 1 43396414 G A 101310 Benign Dystonia|Glucose_transporter_type_1_deficiency... 0.16392 0.19022 0.14137 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
272 670109 1 43409179 G T 657948 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
273 668836 1 43424051 A G 657832 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
274 297395 1 43424812 C G 282361 Benign Dystonia|Glucose_transporter_type_1_deficiency... . . 0.14217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
275 259760 1 43812075 G A 249934 Benign not_specified 0.32908 0.3032 0.20967 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
276 260613 1 43886494 C T 249939 Benign Seizures|not_specified|not_provided 0.33886 0.31911 0.19808 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
277 260619 1 43901011 A C 249945 Benign not_specified 0.31409 0.32003 0.19888 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
278 260620 1 43903589 G T 249946 Benign not_specified 0.33577 . 0.21186 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
279 260623 1 43906896 A G 249949 Benign Seizures|not_specified|not_provided 0.31839 0.31835 0.19629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
280 260626 1 43909265 T C 249952 Benign Seizures|not_specified|not_provided 0.33116 0.33096 0.22105 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
281 262909 1 44386615 A G 249955 Benign not_specified 0.85043 0.88129 0.80911 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
282 262910 1 44395786 C T 249956 Benign not_specified 0.59588 0.66838 0.51877 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
283 415448 1 45292173 G A 391273 Benign Gorlin_syndrome 0.01607 0.04404 0.0629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
284 239554 1 45294693 C T 238304 Benign not_provided 0.00123 0.00358 0.0006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
285 261222 1 45362992 T C 249960 Benign not_specified 0.66108 0.65886 0.79113 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
286 95947 1 45444038 G A 101843 Benign Leukoencephalopathy_with_vanishing_white_matte... 0.2841 0.25876 0.29653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
287 297453 1 45452227 G C 281149 Benign Leukoencephalopathy_with_vanishing_white_matter . . 0.48063 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
288 439920 1 45796269 G C 432989 Benign not_specified 0.92625 0.92446 0.9353 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
289 257529 1 45798555 T C 249965 Benign not_specified 0.93026 0.92551 0.9371 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
290 297505 1 45975300 G A 280720 Likely_benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.11841 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
291 167524 1 46655158 T C 177974 Benign Muscle_eye_brain_disease|not_specified 0.94126 0.98384 0.94249 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
292 130004 1 46658217 C T 135450 Benign not_specified|not_provided 0.0123 0.00901 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
293 6724 1 46870761 C A 21763 Benign FAAH_POLYMORPHISM . 0.23331 0.26158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
294 297544 1 47716040 TAA T 281229 Benign Primary_Microcephaly,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
295 94095 1 47717189 A G 99995 Benign Primary_autosomal_recessive_microcephaly_7|not... 0.4085 0.49787 0.39337 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
296 94094 1 47726087 T C 99994 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_7|not... 0.28264 0.24206 0.17832 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
297 670142 1 47729034 T G 657961 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
298 160057 1 47735280 T C 168006 Benign not_specified|not_provided 0.40872 . 0.39437 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
299 673949 1 47753405 G A 657936 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
300 670465 1 47765490 T C 657937 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
301 670581 1 47767141 C A 657855 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
302 21354 1 47767914 G A 34206 Benign Primary_autosomal_recessive_microcephaly_7|not... 0.59311 0.50345 0.60643 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
303 670580 1 47770441 A C 657963 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
304 670141 1 47770786 T A 657859 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
305 193357 1 47882497 C T 190521 Benign not_specified 0.31318 0.35095 0.27855 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
306 559025 1 53453683 C T 549525 Benign not_provided 0.31006 0.22198 0.40216 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
307 559026 1 53453714 G T 549526 Benign not_provided 0.17438 0.0872 0.19149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
308 683619 1 53666108 T C 657968 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
309 680257 1 53675532 T C 657867 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
310 92429 1 53676448 G A 39074 Benign Carnitine_palmitoyltransferase_II_deficiency|n... 0.45641 0.48413 0.41314 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
311 460427 1 53679096 T C 448240 Conflicting_interpretations_of_pathogenicity not_provided 0.00331 0.00235 0.0004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
312 368876 1 53679878 T C 353105 Benign Carnitine_palmitoyltransferase_II_deficiency . . 0.22824 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
313 6996 1 53712727 C T 22035 risk_factor Myocardial_infarction_1 . 0.29529 0.14437 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
314 735250 1 53727885 G A 743758 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
315 297612 1 55315351 T C 281322 Benign Desmosterolosis . . 0.9998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
316 297621 1 55315941 G T 282895 Likely_benign Desmosterolosis . . 0.01018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
317 297623 1 55316082 A C 282901 Benign Desmosterolosis . . 0.98323 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
318 297654 1 55319902 A G 281388 Benign Desmosterolosis 0.66615 0.66506 0.6276 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
319 297656 1 55330966 T C 282617 Benign Desmosterolosis 0.98793 0.99684 0.98862 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
320 297673 1 55464743 T C 280880 Benign Bartter_syndrome . . 0.59405 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
321 297674 1 55464790 C G 281402 Benign Bartter_syndrome . . 0.59505 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
322 46553 1 55474262 G A 55718 Benign/Likely_benign Bartter_syndrome|Bartter_syndrome_type_4|not_s... 0.19968 0.15861 0.11601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
323 297681 1 55474325 A C 282935 Benign Bartter_syndrome 0.44649 . 0.36242 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
324 368877 1 55474476 C G 353106 Benign Bartter_syndrome . . 0.42991 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
325 440703 1 55504650 G A 434132 Benign Familial_hypercholesterolemia_1 . . 0.60144 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
326 36666 1 55505447 C T 45327 Benign/Likely_benign Familial_hypercholesterolemia_1|Familial_hypob... . . 0.09385 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
327 36669 1 55505668 C T 45330 Benign/Likely_benign Familial_hypercholesterolemia_1|Familial_hypob... 0.09582 . 0.09125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
328 262904 1 55505732 A G 249984 Benign/Likely_benign Familial_hypercholesterolemia_1|Familial_hypob... 0.91164 0.93699 0.90855 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
329 440710 1 55505926 C T 434139 Benign Familial_hypercholesterolemia_1 . . 0.09345 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
330 265925 1 55518166 G A 260601 Benign Familial_hypercholesterolemia_1 . . 0.54932 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
331 265928 1 55518190 AC A 260605 Uncertain_significance Familial_hypercholesterolemia_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
332 265929 1 55518198 C A 260604 Benign Familial_hypercholesterolemia_1 . . 0.13858 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
333 262908 1 55518467 A G 249988 Benign/Likely_benign Familial_hypercholesterolemia_1|Familial_hypob... 0.50415 0.43115 0.46625 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
334 262899 1 55523033 A G 249989 Conflicting_interpretations_of_pathogenicity Familial_hypercholesterolemia_1|Familial_hypob... 0.9797 0.99454 0.98183 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
335 265943 1 55524116 C T 260619 Benign Familial_hypercholesterolemia_1 . . 0.86921 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
336 201126 1 55524197 A G 196755 Benign/Likely_benign Familial_hypercholesterolemia_1|Familial_hypob... 0.81778 0.8544 0.86921 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
337 201124 1 55524237 G A 196757 Benign/Likely_benign Familial_hypercholesterolemia_1|Familial_hypob... 0.81778 0.85444 0.86901 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
338 36670 1 55529187 G A 45331 Benign/Likely_benign Familial_hypercholesterolemia_1|Familial_hypob... 0.88944 0.94328 0.89896 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
339 770847 1 55643658 T C 696804 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
340 17039 1 57340727 C A 32078 Benign COMPLEMENT_COMPONENT_8,_ALPHA_SUBUNIT,_A/B_POL... 0.32093 0.36838 0.34365 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
341 297752 1 59041220 C T 282697 Benign Corneal_Dystrophy,_Dominant/Recessive . . 0.25699 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
342 297754 1 59041436 T C 282703 Likely_benign Corneal_Dystrophy,_Dominant/Recessive . . 0.10463 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
343 297756 1 59041577 A G 281504 Benign Corneal_Dystrophy,_Dominant/Recessive . . 0.41294 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
344 297763 1 59041809 C T 282981 Likely_benign Corneal_Dystrophy,_Dominant/Recessive 0.085 . 0.05391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
345 297769 1 59042311 T G 280967 Likely_benign Corneal_Dystrophy,_Dominant/Recessive 0.1225 0.09721 0.10403 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
346 297778 1 59042997 C T 282741 Likely_benign Corneal_Dystrophy,_Dominant/Recessive . . 0.10403 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
347 770850 1 61872228 C T 777132 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
348 585796 1 62976259 C T 576551 Likely_benign not_provided 0.00015 0.00032 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
349 95531 1 63881552 C T 101430 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.737 0.75143 0.83047 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
350 297858 1 63903452 T C 280998 Benign Congenital_disorder_of_glycosylation . . 0.6847 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
351 676174 1 64059644 C G 657878 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
352 297871 1 64095111 A G 282807 Benign/Likely_benign Congenital_disorder_of_glycosylation|Congenita... 0.17446 0.13043 0.12979 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
353 676177 1 64095862 G A 657978 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
354 297874 1 64097432 C T 283126 Benign/Likely_benign Congenital_disorder_of_glycosylation|Congenita... 0.22313 0.2428 0.24141 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
355 558803 1 64100478 A T 549534 Benign not_provided 0.4235 0.41411 0.5002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
356 676178 1 64102114 A G 657879 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
357 474681 1 65849887 G A 448350 Benign Parkinson_disease_19a,_juvenile-onset 0.01876 0.02145 0.01138 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
358 297982 1 65886398 T C 282919 Benign Leptin_receptor_deficiency|Monogenic_Non-Syndr... 0.44184 0.55154 0.56789 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
359 487357 1 66036501 G T 480430 Benign Leptin_receptor_deficiency 0.99946 0.99991 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
360 298000 1 66102257 G A 282947 Benign Leptin_receptor_deficiency|not_specified|Monog... 0.4075 0.45262 0.52975 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
361 298008 1 66103042 AAC A 281762 Benign Leptin_receptor_deficiency|Monogenic_Non-Syndr... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
362 298009 1 66103101 T C 281763 Uncertain_significance Leptin_receptor_deficiency|Monogenic_Non-Syndr... . . 0.0016 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
363 298027 1 70876959 A T 281783 Likely_benign Cystathioninuria . . 0.03235 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
364 676188 1 76190569 C G 658055 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
365 254691 1 76194054 C G 250014 Benign not_specified 0.2535 0.25061 0.18291 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
366 226050 1 76194229 GT G 227862 Benign Medium-chain_acyl-coenzyme_A_dehydrogenase_def... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
367 92259 1 76198436 T C 98170 Benign/Likely_benign Medium-chain_acyl-coenzyme_A_dehydrogenase_def... 0.3176 0.27404 0.23123 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
368 676189 1 76198785 G A 658062 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
369 254689 1 76199345 C G 250015 Benign not_specified 0.31739 0.27366 0.23103 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
370 254690 1 76205643 C A 250016 Benign not_specified 0.25894 0.28608 0.1901 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
371 92254 1 76227022 A G 98165 Benign/Likely_benign Medium-chain_acyl-coenzyme_A_dehydrogenase_def... 0.24996 0.23335 0.17432 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
372 298078 1 76229120 T C 281831 Likely_benign Medium-chain_acyl-coenzyme_A_dehydrogenase_def... . . 0.09824 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
373 298081 1 76229326 T C 281218 Benign Medium-chain_acyl-coenzyme_A_dehydrogenase_def... . . 0.69169 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
374 402356 1 77763542 G A 389423 Benign not_specified 0.98393 0.99553 0.97883 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
375 402357 1 77883412 C T 389425 Benign not_specified 0.12937 0.13826 0.1254 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
376 402358 1 78024284 T C 389472 Benign not_specified 0.71682 0.74619 0.6853 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
377 402359 1 78024345 C CTAT 390495 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
378 671176 1 78383467 G A 658068 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
379 683664 1 78392867 C T 658080 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
380 298100 1 78408922 CA C 281853 Uncertain_significance Hypertrophic_cardiomyopathy|Dilated_Cardiomyop... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
381 225991 1 78956432 T C 227744 drug_response latanoprost_response_-_Efficacy . . 0.78235 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
382 722691 1 85462511 C T 732625 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
383 298125 1 92711972 C G 281871 Benign Glomuvenous_malformations . . 0.61601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
384 298167 1 92940850 G T 281285 Benign Severe_congenital_neutropenia . . 0.15815 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
385 298175 1 92941357 A G 283194 Benign Severe_congenital_neutropenia . . 0.80831 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
386 259698 1 92944188 G A 250019 Benign/Likely_benign Severe_congenital_neutropenia|Severe_congenita... 0.01453 0.01357 0.00539 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
387 211078 1 92946479 G A 206837 Benign Severe_congenital_neutropenia|not_specified 0.85188 0.88834 0.91893 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
388 402836 1 92979354 A G 389473 Benign not_specified 0.83838 0.85197 0.92033 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
389 402838 1 93089823 T C 389434 Benign not_specified 0.91319 0.92158 0.94908 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
390 402839 1 93160902 T C 389440 Benign not_specified 0.91296 0.92158 0.95028 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
391 298213 1 93306317 G A 283380 Benign Diamond-Blackfan_anemia 0.56906 0.677 0.69189 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
392 136235 1 94471075 A G 139938 Benign Macular_degeneration|not_specified|Cone-Rod_Dy... 0.77572 0.88938 0.76997 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
393 678762 1 94474020 G A 658099 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
394 99396 1 94476388 C G 105285 Benign/Likely_benign Macular_degeneration|not_specified|Cone-Rod_Dy... 0.24927 0.21967 0.20068 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
395 99390 1 94476467 T A 105279 Conflicting_interpretations_of_pathogenicity Macular_degeneration|Stargardt_disease_1|Starg... 0.04775 0.04456 0.02077 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
396 99389 1 94476555 G A 105278 not_provided not_provided . . 0.69149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
397 680456 1 94477232 T G 658070 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
398 678761 1 94480439 T C 657925 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
399 680455 1 94480529 A C 657991 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
400 255923 1 94487285 AAC A 250031 Benign Macular_degeneration|not_specified|Cone-Rod_Dy... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
401 678759 1 94495816 T C 658078 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
402 678756 1 94509226 G T 657938 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
403 680452 1 94525623 A G 658079 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
404 99079 1 94528363 C T 104968 not_provided not_provided . . 0.3736 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
405 193579 1 94544135 A AC 190742 Benign Macular_degeneration|not_specified|Cone-Rod_Dy... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
406 99037 1 94544276 G A 104927 Benign Macular_degeneration|not_specified|Cone-Rod_Dy... 0.46548 0.48144 0.51478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
407 680451 1 94566683 T C 658087 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
408 166618 1 94578548 T C 177452 Benign not_specified 0.9877 . 0.98702 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
409 258821 1 94930345 G A 250040 Benign not_specified|not_provided 0.37221 0.39233 0.27995 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
410 298277 1 97544258 A G 283459 Likely_benign Dihydropyrimidine_dehydrogenase_deficiency . . 0.10683 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
411 100080 1 97770920 C T 105957 Benign/Likely_benign Dihydropyrimidine_dehydrogenase_deficiency|not... 0.04137 0.04647 0.04393 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
412 100086 1 97847874 T C 105963 not_provided not_provided . . 0.22664 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
413 100092 1 97981395 T C 105969 Benign/Likely_benign Dihydropyrimidine_dehydrogenase_deficiency|not... 0.18361 0.19296 0.1849 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
414 100103 1 98039541 A G 105980 Benign/Likely_benign Dihydropyrimidine_dehydrogenase_deficiency|not... 0.09482 0.10458 0.0637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
415 100105 1 98060481 A C 105982 not_provided not_provided . . 0.10923 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
416 100123 1 98348885 G A 106000 Benign Dihydropyrimidine_dehydrogenase_deficiency|not... . 0.76517 0.73982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
417 676091 1 100316765 C T 658089 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
418 256750 1 100327026 C T 250042 Benign not_specified 0.24181 0.19623 0.22724 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
419 682710 1 100328272 G A 657959 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
420 676092 1 100329889 G C 658003 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
421 676094 1 100330237 A G 658006 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
422 677943 1 100330295 T C 657960 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
423 679283 1 100335788 A G 658096 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
424 198432 1 100336361 C T 195593 Benign Glycogen_storage_disease_type_III|not_specifie... 0.76711 0.72141 0.76258 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
425 256751 1 100340225 G A 250046 Benign not_specified|not_provided 0.74831 0.73142 0.74341 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
426 680037 1 100347463 C A 658117 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
427 256730 1 100353675 G A 250058 Benign Glycogen_storage_disease_type_III|not_specifie... 0.65485 0.68976 0.68111 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
428 256734 1 100358103 C T 250062 Benign/Likely_benign Glycogen_storage_disease_type_III|not_specifie... 0.13947 0.13613 0.11062 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
429 256735 1 100358200 G A 250063 Benign not_specified|not_provided 0.65495 0.6912 0.68151 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
430 682727 1 100358451 G A 658121 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
431 680038 1 100362180 G A 658125 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
432 680039 1 100377789 C T 658124 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
433 291359 1 100387939 C T 283552 Benign Glycogen_storage_disease_type_III . . 0.59045 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
434 291395 1 100655583 T A 275557 Benign Maple_syrup_urine_disease . . 0.76677 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
435 291396 1 100655695 TAA T 275589 Uncertain_significance Maple_syrup_urine_disease . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
436 291404 1 100656265 C T 275613 Benign Maple_syrup_urine_disease . . 0.80072 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
437 291407 1 100656661 T C 275571 Benign Maple_syrup_urine_disease . . 0.76957 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
438 291424 1 100658578 G A 275625 Benign Maple_syrup_urine_disease . . 0.76957 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
439 128885 1 100672060 T C 134332 Benign Maple_syrup_urine_disease|not_specified . 0.91377 0.89177 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
440 681221 1 100673032 A G 656866 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
441 681220 1 100683906 G T 656835 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
442 681219 1 100695989 A C 656873 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
443 776339 1 100740485 T C 695917 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
444 682965 1 100819273 T C 656814 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
445 291477 1 103342392 T C 275622 Benign Marshall_syndrome|Fibrochondrogenesis_1|Stickl... . . 0.22444 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
446 681209 1 103345744 C G 656841 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
447 681208 1 103348460 A T 656816 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
448 681207 1 103352076 C T 656844 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
449 258470 1 103352451 A G 249270 Benign Marshall_syndrome|Fibrochondrogenesis_1|not_sp... 0.44841 0.58015 0.48463 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
450 258467 1 103354115 T C 249273 Benign not_specified 0.1284 0.13542 0.17352 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
451 17137 1 103354138 A G 32176 Benign Marshall_syndrome|Lumbar_disc_herniation,_susc... 0.80701 0.79416 0.78295 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
452 258466 1 103354428 A G 249274 Benign Marshall_syndrome|Fibrochondrogenesis_1|not_sp... 0.62294 0.72387 0.6226 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
453 258465 1 103356107 A G 249275 Benign not_specified 0.12328 . 0.17372 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
454 681203 1 103379548 A G 656837 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
455 258461 1 103379918 G A 249279 Benign Marshall_syndrome|Fibrochondrogenesis_1|not_sp... 0.45172 0.59155 0.49661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
456 516177 1 103380379 T TA 497941 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
457 681201 1 103386485 T C 656854 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
458 681200 1 103386807 C T 656865 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
459 681199 1 103404323 A G 656867 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
460 681198 1 103404936 A T 656895 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
461 674756 1 103428389 G A 656897 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
462 258445 1 103444679 T G 249292 Benign not_specified 0.55167 0.69125 0.62919 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
463 674755 1 103449598 G C 656882 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
464 674754 1 103455217 C T 656884 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
465 258443 1 103461508 T A 249294 Benign not_specified|not_provided 0.90548 0.95364 0.92392 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
466 674752 1 103463976 G T 656887 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
467 681197 1 103464210 T C 656893 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
468 674751 1 103467615 C T 656896 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
469 674750 1 103483514 C T 656903 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
470 674749 1 103496620 G T 656905 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
471 218828 1 103496805 GA G 215177 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
472 258450 1 103548319 C G 249303 Benign not_specified|not_provided 0.45625 0.5918 0.57628 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
473 674747 1 103573547 G A 656914 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
474 681360 1 109446045 C G 656944 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
475 681782 1 109456850 G A 656975 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
476 683318 1 109460963 C T 656976 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
477 226649 1 109465165 ACTT A 228257 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
478 681784 1 109466858 G A 656980 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
479 291711 1 109472773 G A 276041 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.36821 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
480 291714 1 109473017 C T 276043 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.20707 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
481 259744 1 110148974 C T 249359 Benign Achromatopsia|not_specified 0.33062 0.44904 0.37859 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
482 677169 1 111661413 T C 656955 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
483 683550 1 112319388 A G 656981 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
484 682043 1 112321322 T C 656919 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
485 683889 1 112329296 G A 656983 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
486 291827 1 113454571 A G 276274 Likely_benign Hyperinsulinism,_Dominant . . 0.24701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
487 291831 1 113455099 G A 276277 Likely_benign Hyperinsulinism,_Dominant . . 0.67552 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
488 130315 1 113456546 A T 135762 Benign/Likely_benign not_specified|Hyperinsulinism,_Dominant 0.66623 0.59721 0.67672 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
489 260443 1 113659065 ACT A 249366 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
490 769239 1 114372332 TA T 777012 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
491 8910 1 114415368 G C 23949 risk_factor Diabetes_mellitus,_insulin-dependent,_suscepti... . . 0.74701 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
492 157718 1 114438951 A G 167566 Benign History_of_neurodevelopmental_disorder|Spastic... 0.43795 0.31864 0.377 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
493 380767 1 114447565 G A 364302 Benign not_specified . . 0.32947 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
494 291946 1 115247749 TA T 275943 Likely_benign Noonan_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
495 291967 1 115249843 G A 276416 Likely_benign Noonan_syndrome . . 0.15096 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
496 561821 1 115252609 G C 552484 Benign not_provided . . 0.8764 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
497 256640 1 115576023 A G 249367 Benign Congenital_hypothyroidism|Secondary_hypothyroi... 0.97524 0.97066 0.98363 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
498 291993 1 115829313 G A 276307 Benign Congenital_sensory_neuropathy_with_selective_l... 0.36914 0.36557 0.2474 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
499 667672 1 115881055 G A 656988 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
500 292005 1 116206423 G A 276198 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome 0.1241 0.1421 0.11502 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
501 292017 1 116234217 C T 276462 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.06669 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
502 292018 1 116234300 C T 276201 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.06669 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
503 292020 1 116234313 A G 276202 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.73942 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
504 292025 1 116234505 A G 276336 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.73942 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
505 292027 1 116234694 C A 276337 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.0653 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
506 292052 1 116236351 T G 276395 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.44209 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
507 292054 1 116236489 C T 276234 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.07308 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
508 292057 1 116236581 G A 276235 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.10244 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
509 292066 1 116237417 C T 276023 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.07328 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
510 292067 1 116237496 T A 276398 Likely_benign Neural_tube_defect|Caudal_dysgenesis_syndrome . . 0.33766 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
511 292075 1 116238478 C T 276248 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.4401 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
512 292076 1 116238504 C T 276408 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.17552 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
513 292084 1 116239266 C T 276527 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.17532 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
514 292088 1 116239368 G A 276533 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.42332 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
515 292095 1 116239751 A G 276037 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.4375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
516 292097 1 116239841 A T 276256 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.42312 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
517 292101 1 116239995 A T 276450 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.42312 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
518 292106 1 116240212 C T 276480 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.17572 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
519 292107 1 116240321 T G 276262 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.07228 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
520 292112 1 116240721 A G 276263 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.10224 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
521 292113 1 116240756 T TC 276264 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
522 292118 1 116242844 AT A 276578 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
523 292120 1 116243230 C G 276271 Benign/Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.71785 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
524 292122 1 116243380 G A 276272 Benign/Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.70088 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
525 292124 1 116243724 A G 276056 Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... . . 0.10363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
526 44157 1 116243877 G A 53325 Benign/Likely_benign Neural_tube_defect|Catecholaminergic_polymorph... 0.38798 0.38379 0.42572 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
527 672186 1 116245809 C T 656936 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
528 683295 1 116245899 T C 656990 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
529 683294 1 116247535 G C 656992 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
530 683293 1 116247557 C G 656993 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
531 257653 1 116247790 G A 249368 Benign not_specified 0.4012 0.34862 0.42871 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
532 257652 1 116260532 A T 249369 Benign Ventricular_tachycardia,_catecholaminergic_pol... 0.59926 . 0.64277 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
533 672065 1 116260604 G A 656948 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
534 671742 1 116268283 C T 657041 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
535 683292 1 116269331 C A 657044 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
536 44163 1 116283343 A G 53331 Benign Catecholaminergic_polymorphic_ventricular_tach... 0.70844 0.78717 0.64357 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
537 671741 1 116283526 G A 656994 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
538 672064 1 116283625 A G 657011 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
539 678455 1 116283699 A G 656996 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
540 683291 1 116283747 T C 657015 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
541 672063 1 116287682 T C 657016 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
542 292299 1 120254506 A G 276862 Benign Phosphoglycerate_dehydrogenase_deficiency . . 0.69828 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
543 292300 1 120254545 G C 276166 Benign Phosphoglycerate_dehydrogenase_deficiency . . 0.81749 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
544 292306 1 120263780 T C 276179 Likely_benign Phosphoglycerate_dehydrogenase_deficiency 0.01438 0.00497 0.01877 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
545 292321 1 120285546 G A 276452 Benign Phosphoglycerate_dehydrogenase_deficiency|not_... 0.70606 0.69241 0.72224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
546 292326 1 120291471 TAAAC T 276923 Uncertain_significance mitochondrial_3-hydroxy-3-methylglutaryl-CoA_s... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
547 684188 1 120293748 T G 657050 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
548 684183 1 120307515 C G 657022 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
549 261702 1 120480583 G A 249380 Benign Hajdu-Cheney_syndrome|not_specified 0.07151 0.02218 0.07109 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
550 769527 1 144921924 G A 696066 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
551 769243 1 144922523 C T 696065 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
552 403294 1 144923728 GT G 390579 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
553 767694 1 144923823 TAGGAAGAAACGGCA T 776998 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
554 292441 1 147229662 G A 276310 Likely_benign Familial_atrial_fibrillation . . 0.06749 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
555 292456 1 147245383 T C 276317 Likely_benign Familial_atrial_fibrillation . . 0.1883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
556 368828 1 147245474 G C 353057 Likely_benign Familial_atrial_fibrillation . . 0.97484 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
557 368829 1 147245497 C T 353058 Likely_benign Familial_atrial_fibrillation . . 0.1883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
558 680801 1 150460168 A G 657024 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
559 680803 1 150462811 C T 657029 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
560 680805 1 150464603 A G 657075 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
561 676428 1 150470322 C A 657069 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
562 381175 1 150471157 T A 364442 Benign not_specified 0.02345 0.04055 0.04633 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
563 680806 1 150476516 G A 657030 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
564 676429 1 150477061 C T 657083 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
565 261076 1 150531008 T C 249390 Benign Ectopia_lentis|Ectopia_lentis_et_pupillae|not_... 0.86752 0.90669 0.8145 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
566 261077 1 150531050 G A 249391 Benign Ectopia_lentis|Ectopia_lentis_et_pupillae|not_... 0.84353 0.86757 0.8784 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
567 517011 1 150531170 C T 498023 Benign not_specified 0.91596 0.97677 0.92153 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
568 292600 1 151313774 A G 276632 Benign Bare_lymphocyte_syndrome_2 . . 0.628 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
569 292605 1 151314379 T C 276401 Benign Bare_lymphocyte_syndrome_2 . . 0.76438 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
570 292612 1 151315287 G C 277245 Benign/Likely_benign Bare_lymphocyte_syndrome_2|not_specified 0.11887 0.11875 0.0635 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
571 403373 1 151316161 G A 389326 Benign not_specified 0.97524 0.99335 0.97804 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
572 402868 1 152282684 G A 389322 Benign not_specified 0.02952 0.03066 0.01298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
573 292625 1 154134557 A C 277165 Benign Nemaline_myopathy|Congenital_fiber-type_dispro... . . 0.32149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
574 292652 1 154136657 G T 277319 Uncertain_significance Nemaline_myopathy|Congenital_fiber-type_dispro... . . 0.0002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
575 292666 1 154138228 G A 277341 Benign Nemaline_myopathy|Congenital_fiber-type_dispro... . . 0.32009 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
576 292677 1 154139165 C CT 277239 Benign Nemaline_myopathy|Congenital_fiber-type_dispro... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
577 292682 1 154139381 A C 276481 Benign Nemaline_myopathy|Congenital_fiber-type_dispro... . . 0.32288 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
578 262627 1 154141908 A G 249393 Benign not_specified|not_provided 0.60218 0.60767 0.73223 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
579 259917 1 154245917 T C 249399 Benign/Likely_benign Severe_congenital_neutropenia|not_specified 0.09919 0.1136 0.07528 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
580 14660 1 154426970 A C 29699 association Interleukin_6,_serum_level_of,_quantitative_tr... . 0.37562 0.29313 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
581 292713 1 154554951 A AGGGGCATG 277338 Uncertain_significance Symmetrical_dyschromatosis_of_extremities . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
582 292717 1 154555492 T C 276509 Benign Symmetrical_dyschromatosis_of_extremities . . 0.59804 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
583 292721 1 154555733 A T 276511 Benign Symmetrical_dyschromatosis_of_extremities . . 0.19469 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
584 292729 1 154556266 G A 277418 Benign Symmetrical_dyschromatosis_of_extremities . . 0.59784 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
585 292734 1 154556425 G A 276770 Benign Symmetrical_dyschromatosis_of_extremities . . 0.39497 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
586 292740 1 154556663 G A 277437 Benign Symmetrical_dyschromatosis_of_extremities . . 0.39617 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
587 257475 1 154557685 C T 249407 Benign Symmetrical_dyschromatosis_of_extremities|not_... 0.4032 0.463 0.38878 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
588 195112 1 154573967 T C 192273 Benign Symmetrical_dyschromatosis_of_extremities|not_... 0.60787 0.69561 0.6226 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
589 500335 1 154574820 T C 491759 Benign not_specified 0.99569 0.99876 0.99621 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
590 257476 1 154575040 C T 249409 Benign Symmetrical_dyschromatosis_of_extremities|not_... 0.99716 0.99916 0.99701 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
591 403001 1 154744807 C G,T 389335 Benign not_specified 0.58158 . 0.53534 1|2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
592 403002 1 154744852 A G 389312 Benign not_specified 0.70514 0.76157 0.77915 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
593 256871 1 155205669 G T 249411 Benign not_specified|not_provided . 0.98423 0.9409 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
594 181519 1 155870416 G A 178910 Benign not_specified|not_provided 0.7934 0.87719 0.77975 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
595 561495 1 155873960 A G 552490 Benign not_provided . . 0.85024 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
596 227047 1 155880573 C G 228267 Benign not_specified|not_provided 0.79525 0.87746 0.77995 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
597 561403 1 155880952 G A 552497 Benign not_provided . . 0.35623 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
598 674310 1 156011444 T C 655043 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
599 683622 1 156085375 T C 657048 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
600 668922 1 156095648 T C 657087 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
601 683613 1 156095712 T C 657090 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
602 672751 1 156095756 C T 657094 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
603 672752 1 156095848 C T 657095 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
604 672778 1 156096387 G A 657102 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
605 672779 1 156096417 T G 657096 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
606 672780 1 156096873 T C 657112 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
607 672781 1 156096919 G A 657110 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
608 192190 1 156099669 T G 189381 Benign Hutchinson-Gilford_syndrome|not_specified 0.18754 0.16301 0.19768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
609 668923 1 156100139 T C 657104 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
610 672782 1 156100739 T C 657111 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
611 683614 1 156100838 C G 657115 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
612 672783 1 156103997 A C 657051 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
613 48071 1 156104292 G A 57235 Benign/Likely_benign Cardiomyopathy|Hutchinson-Gilford_syndrome|Cha... 0.00569 0.00972 0.00799 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
614 48088 1 156105028 T C 57252 Benign Cardiomyopathy|Hutchinson-Gilford_syndrome|Cha... 0.19783 0.10943 0.19309 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
615 683061 1 156105337 C T 657105 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
616 36474 1 156105928 G A 45136 Benign/Likely_benign Primary_dilated_cardiomyopathy|not_specified|n... 0.19752 0.10765 0.19229 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
617 48037 1 156106185 T C 57201 Benign Cardiomyopathy|Hutchinson-Gilford_syndrome|Cha... 0.25412 . 0.2492 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
618 672784 1 156106369 G A 657120 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
619 66834 1 156106863 C T 77731 Benign not_specified|not_provided 0.1873 0.10637 0.18231 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
620 683615 1 156108019 C T 657114 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
621 683062 1 156108048 T C 657123 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
622 66756 1 156108976 G C 77653 not_provided not_provided 0.17674 . 0.1853 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
623 261576 1 156146218 C T 249423 Benign not_specified|Cone-Rod_Dystrophy,_Recessive|Re... 0.53176 0.52725 0.43091 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
624 3362 1 156146640 G A 18401 Benign/Likely_benign Retinitis_pigmentosa_35|not_specified|Cone-Rod... 0.03468 0.03541 0.02177 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
625 667736 1 156785356 T C 657124 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
626 380853 1 156785617 G A 364541 Benign not_specified 0.61772 0.66741 0.63698 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
627 667767 1 156785771 A G 657128 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
628 667768 1 156785779 G A 657107 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
629 667738 1 156838141 T C 657082 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
630 667741 1 156841259 A C 657129 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
631 667743 1 156841674 G A 657131 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
632 667763 1 156848794 C T 657109 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
633 667764 1 156848808 T C 657091 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
634 292891 1 156848909 CA C 277584 Benign/Likely_benign Hereditary_insensitivity_to_pain_with_anhidros... 0.0667 0.0625 0.08926 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
635 138564 1 156848995 C T 142267 Benign Hereditary_insensitivity_to_pain_with_anhidros... 0.55683 0.57236 0.33407 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
636 138565 1 156849775 T C 142268 Benign not_specified 0.11133 0.06409 0.1224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
637 667765 1 156850104 G C 657121 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
638 667766 1 156850112 T G 657130 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
639 670556 1 156851041 T G 657097 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
640 292917 1 158580553 TA T 277518 Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|S... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
641 292920 1 158580759 G A 276935 Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|S... . . 0.50399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
642 258958 1 158582646 T C 249424 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.50948 0.53849 0.50479 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
643 258957 1 158584091 A G 249425 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.50681 0.53735 0.50619 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
644 292947 1 158584103 G GAA 276686 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
645 258955 1 158587390 C T 249427 Conflicting_interpretations_of_pathogenicity Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.48524 . 0.49101 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
646 258943 1 158607935 T G 249439 Conflicting_interpretations_of_pathogenicity Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.21836 0.27368 0.24561 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
647 258942 1 158612236 A G 249440 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.59956 . 0.59405 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
648 258930 1 158618455 G A 249450 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.20333 0.25339 0.22824 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
649 258929 1 158619728 A C 249451 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.99397 0.99826 0.99461 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
650 258926 1 158626378 C T 249454 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.38696 0.30927 0.42352 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
651 258922 1 158631171 A C 249458 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.22536 . 0.24361 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
652 293028 1 158637865 GAAA G 276726 Uncertain_significance Elliptocytosis|Hereditary_pyropoikilocytosis|S... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
653 258917 1 158644105 T A 249462 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.32712 0.39991 0.35423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
654 258962 1 158647495 A T 249465 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.95805 0.98497 0.95687 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
655 258961 1 158647522 A G 249466 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.47773 0.54491 0.45387 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
656 258959 1 158647631 T A 249468 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.95811 0.98494 0.95687 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
657 258916 1 158655036 G A 249471 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.97319 0.99197 0.96985 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
658 258920 1 158656281 T C 249472 Benign/Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|n... 0.97313 0.99195 0.96985 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
659 293066 1 158656432 G GA 277611 Likely_benign Elliptocytosis|Hereditary_pyropoikilocytosis|S... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
660 293090 1 160009121 A C 276775 Likely_benign Pendred_syndrome|Seizures,_Sensorineural_Deafn... . . 0.48103 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
661 293091 1 160009143 G C 277643 Benign Pendred_syndrome|Seizures,_Sensorineural_Deafn... . . 0.9982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
662 293102 1 160009419 A C 276778 Benign Pendred_syndrome|Seizures,_Sensorineural_Deafn... . . 0.86282 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
663 668000 1 160085281 A T 657100 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
664 678200 1 160085868 A C 657103 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
665 668017 1 160085955 A C 657133 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
666 670739 1 160090674 T C 657139 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
667 166705 1 160090681 CCCTT C 177497 Benign Familial_hemiplegic_migraine|Alternating_hemip... . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
668 668975 1 160091346 G A 657142 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
669 197163 1 160093222 C T 194324 Benign not_specified 0.94941 0.98491 0.94249 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
670 670740 1 160093911 T C 657155 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
671 674717 1 160093942 G A 657126 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
672 678076 1 160094458 A G 657135 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
673 668018 1 160094644 A G 657106 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
674 670755 1 160095127 T A 657134 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
675 670756 1 160097666 G A 657116 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
676 128477 1 160098543 G A 133926 Benign Familial_hemiplegic_migraine|Alternating_hemip... 0.19245 . 0.20967 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
677 671340 1 160110812 C T 657187 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
678 293147 1 160111701 G C 277097 Likely_benign Familial_hemiplegic_migraine|Alternating_hemip... . . 0.20887 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
679 293160 1 160112138 A G 277810 Likely_benign Familial_hemiplegic_migraine|Alternating_hemip... . . 0.21246 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
680 293162 1 160112207 T A 277121 Likely_benign Familial_hemiplegic_migraine|Alternating_hemip... . . 0.21246 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
681 293175 1 160112594 CA C 276850 Benign Familial_hemiplegic_migraine|Alternating_hemip... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
682 293179 1 160112741 T C 277817 Likely_benign Familial_hemiplegic_migraine|Alternating_hemip... . . 0.21286 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
683 293189 1 160113371 T A 277710 Likely_benign Familial_hemiplegic_migraine|Alternating_hemip... . . 0.21785 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
684 293196 1 160247185 G C 277712 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.56415 0.45228 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
685 4895 1 160807715 T C 19934 risk_factor Rheumatoid_arthritis . . 0.5615 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
686 293238 1 161136224 C A 277167 Likely_benign Variegate_porphyria . . 0.35923 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
687 293244 1 161136343 C G 277833 Likely_benign Variegate_porphyria . . 0.02177 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
688 671138 1 161178684 T C 657138 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
689 129697 1 161182208 C G 135143 Likely_benign Mitochondrial_complex_I_deficiency|not_specifi... 0.06866 0.07844 0.04932 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
690 678042 1 161182484 A G 657160 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
691 293292 1 161192316 G A 277897 Likely_benign Apolipoprotein_A-II_deficiency 0.08219 0.11352 0.10304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
692 197772 1 161202605 G A 194933 Benign not_specified 0.26987 0.35343 0.33626 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
693 293304 1 161274905 T C 277907 Benign Roussy-Lévy_syndrome|Charcot-Marie-Tooth_disea... . . 0.13638 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
694 683189 1 161276434 A G 657140 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
695 667646 1 161279518 T C 657151 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
696 683188 1 161279882 A G 657168 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
697 14823 1 161479745 A G 29862 drug_response Lupus_nephritis,_susceptibility_to|Pseudomonas... . 0.4791 0.44169 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
698 242685 1 161599693 T C 45587 Benign not_provided . 0.58873 0.53295 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
699 801568 1 161751741 A G 789872 Benign Achromatopsia_7 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
700 801572 1 161823011 T A 789876 Benign Achromatopsia_7 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
701 259936 1 162722846 C G 249489 Benign not_specified 0.97301 0.99235 0.97045 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
702 259930 1 162740327 T C 249493 Benign not_specified 0.94756 . 0.94549 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
703 259932 1 162743418 G T 249495 Benign not_specified 0.99477 . 0.99241 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
704 293388 1 162750210 CTT C 278133 Benign Spondyloepimetaphyseal_dysplasia . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
705 767724 1 167871297 G GA 777031 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
706 252576 1 168105581 A AG 246866 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
707 293481 1 168282261 T A 277084 Benign Adrenocorticotropic_hormone_deficiency 0.45639 . 0.48942 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
708 293497 1 168283158 AAAAG A 277351 Benign Adrenocorticotropic_hormone_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
709 293520 1 169435027 C T 278187 Benign Thiamine-responsive_megaloblastic_anemia|Megal... . . 0.9976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
710 683854 1 169446183 A G 657157 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
711 683850 1 169455435 G C 657162 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
712 293541 1 169481223 C G 278256 Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... . . 0.91234 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
713 293546 1 169481950 G A 277166 Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... . . 0.27556 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
714 293554 1 169482436 G A 278264 Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... . . 0.47744 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
715 255211 1 169498834 T C 249500 Benign/Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... 0.91635 0.93257 0.9363 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
716 255210 1 169498975 T C 249501 Conflicting_interpretations_of_pathogenicity Thrombophilia_due_to_activated_protein_C_resis... 0.28941 0.33506 0.30871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
717 255208 1 169510233 G A 249503 Benign/Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... 0.32908 0.29582 0.18211 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
718 255202 1 169511555 T C 249507 Benign/Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... 0.2435 0.27366 0.26278 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
719 255201 1 169511734 T C 249508 Benign/Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... 0.24373 0.27377 0.26278 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
720 255200 1 169511755 T C 249509 Conflicting_interpretations_of_pathogenicity Thrombophilia_due_to_activated_protein_C_resis... 0.24358 0.27684 0.26677 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
721 255196 1 169512027 T C 249512 Benign/Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... 0.24358 0.27365 0.26278 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
722 255194 1 169512093 A G 249514 Benign/Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... 0.2435 0.27368 0.26278 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
723 255193 1 169512120 G A 249515 Benign/Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... 0.24358 0.27361 0.26278 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
724 226007 1 169519049 T C 227743 drug_response hormonal_contraceptives_for_systemic_use_respo... . 0.9785 0.99401 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
725 255197 1 169551682 T C 249526 Benign/Likely_benign Budd-Chiari_syndrome|Venous_thrombosis|Factor_... 0.20541 0.31354 0.22644 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
726 13527 1 169563951 T G 28566 Benign SELECTIN_P_POLYMORPHISM . 0.08208 0.03594 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
727 262629 1 170521376 G A 249533 Benign Geroderma_osteodysplastica|not_specified 0.48585 . 0.59265 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
728 260074 1 171077198 G A 249539 Benign not_specified 0.54644 0.50485 0.53854 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
729 260076 1 171077372 C G 249541 Benign Trimethylaminuria|not_specified 0.2332 . 0.19888 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
730 16305 1 171080080 G A 31344 Benign/Likely_benign Trimethylaminuria|not_specified . 0.08052 0.09764 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
731 767726 1 171178257 C CT 696269 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
732 293709 1 171605539 A G 277613 Benign/Likely_benign Glaucoma|Primary_open_angle_glaucoma|not_speci... 0.02184 . 0.01218 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
733 595495 1 172411496 A G 586557 Benign not_specified 0.85376 0.8747 0.92412 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
734 683703 1 173807157 C T 657200 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
735 224486 1 179519880 T C 226216 Benign Steroid-resistant_nephrotic_syndrome|Nephrotic... . . 0.90176 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
736 224485 1 179520050 T C 226217 Likely_benign Steroid-resistant_nephrotic_syndrome|Nephrotic... . . 0.28315 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
737 224483 1 179520151 C T 226219 Benign Steroid-resistant_nephrotic_syndrome|Nephrotic... . . 0.90515 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
738 293845 1 179520254 C G 278562 Likely_benign Steroid-resistant_nephrotic_syndrome . . 0.58786 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
739 260432 1 179520506 G A 249553 Benign/Likely_benign Steroid-resistant_nephrotic_syndrome|Nephrotic... 0.61718 . 0.58766 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
740 260424 1 179544898 T C 249559 Benign Steroid-resistant_nephrotic_syndrome|Nephrotic... 0.96632 0.96157 0.93091 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
741 225144 1 179545050 C A 227036 Likely_benign Steroid-resistant_nephrotic_syndrome|Nephrotic... 0.19314 0.36538 0.18331 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
742 257699 1 179852074 T C 249561 Benign not_specified 0.5692 . 0.60883 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
743 257701 1 179858444 G A 249563 Conflicting_interpretations_of_pathogenicity Muscular_dystrophy,_limb-girdle,_type_2y|not_s... 0.58306 0.64659 0.63538 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
744 257703 1 179876988 C G 249565 Benign not_specified 0.54021 . 0.58406 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
745 257698 1 179887125 G A 249568 Benign not_specified 0.9275 0.9485 0.91853 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
746 293866 1 180240510 T C 278580 Likely_benign Combined_Pituitary_Hormone_Deficiency,_Dominant 0.05905 0.0665 0.04133 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
747 262225 1 180243524 A G 249572 Benign Pituitary_hormone_deficiency,_combined_4|not_s... 0.41066 0.48502 0.42632 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
748 293882 1 182350896 C G 277506 Benign Glutamine_deficiency,_congenital . . 0.67572 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
749 293891 1 182351233 G A 277529 Benign Glutamine_deficiency,_congenital . . 0.71346 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
750 293893 1 182351422 A G 278611 Benign Glutamine_deficiency,_congenital . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
751 293902 1 182351627 T A 277558 Benign Glutamine_deficiency,_congenital . . 0.85463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
752 293903 1 182351630 T TAAATGA 277731 Benign Glutamine_deficiency,_congenital . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
753 293925 1 182352621 T C 277624 Benign Glutamine_deficiency,_congenital . . 0.67033 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
754 293934 1 182353198 A T 278734 Benign Glutamine_deficiency,_congenital . . 0.67572 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
755 293949 1 182356399 A G 277633 Benign Glutamine_deficiency,_congenital 0.5905 0.57481 0.67572 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
756 293950 1 182359678 C A 277634 Likely_benign Glutamine_deficiency,_congenital . . 0.01098 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
757 293962 1 182360843 C G 278664 Benign Glutamine_deficiency,_congenital . . 0.85743 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
758 293966 1 182360930 A G 278773 Benign Glutamine_deficiency,_congenital . . 0.85663 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
759 293971 1 182361162 C G 277777 Likely_benign Glutamine_deficiency,_congenital . . 0.09325 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
760 293983 1 183155482 C A 278713 Benign Epidermolysis_bullosa,_junctional 0.22182 0.3799 0.27476 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
761 259785 1 183177218 A G 249573 Benign Epidermolysis_bullosa,_junctional|not_specified 0.44749 0.47386 0.49621 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
762 294155 1 185984517 T C 277933 Likely_benign Macular_degeneration 0.34643 0.42709 0.34305 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
763 294183 1 186026474 T C 277951 Benign/Likely_benign Macular_degeneration|Age-related_macular_degen... 0.52537 0.5389 0.52995 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
764 294186 1 186031041 C T 278860 Likely_benign Macular_degeneration 0.6284 0.59797 0.65435 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
765 96208 1 186050417 A G 102102 Benign/Likely_benign Macular_degeneration|Age-related_macular_degen... 0.55498 0.54528 0.58267 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
766 294201 1 186055371 A G 278898 Likely_benign Macular_degeneration 0.62811 0.57832 0.66134 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
767 294231 1 186086578 G A 279089 Likely_benign Macular_degeneration 0.63263 . 0.67552 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
768 294323 1 186159684 C T 278073 Likely_benign Macular_degeneration . . 0.18331 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
769 518309 1 186273994 C T 508763 Benign Camptodactyly_arthropathy_coxa_vara_pericardit... 0.29648 0.305 0.23163 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
770 518311 1 186277989 A G 508765 Benign Camptodactyly_arthropathy_coxa_vara_pericardit... 0.28464 0.30159 0.22125 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
771 692303 1 186280235 G A 680086 Uncertain_significance Fetal_akinesia_sequence|Arthrogryposis_multipl... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
772 676807 1 193202001 C G 657203 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
773 294429 1 193220974 G GT 279150 Uncertain_significance Parathyroid_carcinoma|Hyperparathyroidism_2|Is... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
774 294488 1 196654324 A C 279197 Benign Macular_degeneration|Mesangiocapillary_glomeru... 0.6081 0.66662 0.71306 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
775 294490 1 196659237 C T 278205 Benign Macular_degeneration|Mesangiocapillary_glomeru... . 0.67207 0.73343 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
776 294498 1 196695742 A G 278184 Benign Macular_degeneration|Mesangiocapillary_glomeru... 0.13694 0.19474 0.20288 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
777 294509 1 196709774 G T 278188 Benign Macular_degeneration|Mesangiocapillary_glomeru... 0.13801 0.19548 0.20328 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
778 778240 1 196759282 C T 696347 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
779 294562 1 196978615 T G 278235 Benign Mesangiocapillary_glomerulonephritis,_type_II . . 0.27776 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
780 294566 1 197008365 C T 278241 Likely_benign Factor_XIII_subunit_B_deficiency . . 0.22844 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
781 258504 1 197009798 A G 249586 Benign Factor_XIII_subunit_B_deficiency|not_specified 0.38861 0.52701 0.52496 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
782 294586 1 197030087 C T 279299 Uncertain_significance Factor_XIII_subunit_B_deficiency 0.00584 0.00769 0.00339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
783 258505 1 197030201 T C 249588 Benign Factor_XIII_subunit_B_deficiency|not_specified 0.75615 0.88052 0.78375 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
784 16520 1 197031021 C T 31559 Benign Factor_XIII_subunit_B_deficiency|Venous_thromb... . 0.87197 0.76178 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
785 294591 1 197053373 G A 278274 Benign Primary_Microcephaly,_Recessive . . 0.78235 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
786 678055 1 197055782 T C 657204 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
787 157775 1 197055925 T C 167622 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.75512 0.87863 0.78275 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
788 673924 1 197059878 G A 657210 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
789 673923 1 197059892 A G 657173 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
790 673922 1 197059928 A G 657196 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
791 668875 1 197060783 A T 657198 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
792 157902 1 197063352 C T 167749 Benign not_specified|not_provided 0.31325 0.34806 0.21426 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
793 667999 1 197064826 A G 657205 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
794 678054 1 197064897 T TGTA 657208 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
795 21611 1 197070442 G T 34463 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.3229 . 0.21426 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
796 21605 1 197070697 T C 34457 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.32108 0.34089 0.21426 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
797 21604 1 197070707 G A 34456 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.32172 . 0.21426 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
798 21602 1 197070815 T C 34454 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.78692 0.88756 0.8159 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
799 21599 1 197070901 A G 34451 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.99569 0.9956 0.9974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
800 21593 1 197072420 T C 34445 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.32133 0.34078 0.21306 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
801 21586 1 197073932 T C 34438 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.32237 0.34389 0.21446 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
802 673911 1 197086669 C T 657216 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
803 21578 1 197091537 A T 34430 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.75473 0.87788 0.78255 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
804 678194 1 197091808 T C 657220 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
805 670423 1 197093098 A T 657224 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
806 21573 1 197094030 C T 34425 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_5|not... 0.26353 0.28011 0.21665 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
807 678053 1 197098143 G C 657214 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
808 667998 1 197099485 A G 657225 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
809 673910 1 197101303 C A 657215 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
810 678051 1 197102839 A C 657227 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
811 678190 1 197102926 C T 657238 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
812 673909 1 197103975 G A 657219 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
813 678050 1 197108693 C T 657234 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
814 157788 1 197109042 C T 167635 Benign not_specified|not_provided 0.7555 0.87788 0.78255 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
815 95890 1 197112533 G A 101786 Benign Primary_autosomal_recessive_microcephaly_5|not... 0.73078 0.86978 0.75559 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
816 95888 1 197113073 G A 101784 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_5|not... 0.73024 0.87038 0.75559 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
817 96660 1 197297540 A T 102553 Benign Leber_congenital_amaurosis|Pigmented_paravenou... 0.28657 0.44571 0.40316 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
818 263260 1 197316435 T C 249591 Benign not_specified 0.83085 0.81841 0.83926 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
819 166956 1 197390368 A G 177648 Benign not_specified 0.92104 0.97806 0.91973 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
820 427752 1 198776931 C A 417641 Pathogenic Acute_myeloid_leukemia_with_maturation . . 0.47724 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
821 427753 1 198796120 C T 417642 Pathogenic Acute_myeloid_leukemia_with_maturation . . 0.51837 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
822 427754 1 198867678 G T 417643 Pathogenic Acute_myeloid_leukemia_with_maturation . . 0.79573 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
823 427755 1 198868084 G A 417644 Pathogenic Acute_myeloid_leukemia_with_maturation . . 0.79553 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
824 427756 1 198869514 T C 417645 Pathogenic Acute_myeloid_leukemia_with_maturation . . 0.82009 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
825 767740 1 200880978 C T 696372 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
826 678241 1 201009897 T C 657244 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
827 199680 1 201020105 A G 196497 Benign Malignant_hyperthermia_susceptibility|Hypokale... 0.75481 0.77049 0.88039 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
828 668057 1 201020574 T G 657255 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
829 668880 1 201023034 C G 657228 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
830 668056 1 201023980 G C 657233 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
831 254826 1 201028299 G A 249614 Benign not_specified 0.01507 0.01527 0.00439 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
832 668055 1 201037962 T C 657261 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
833 678298 1 201042618 G A 657273 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
834 678297 1 201042983 G A 657276 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
835 668054 1 201043301 C T 657281 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
836 668053 1 201044344 C T 657245 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
837 254804 1 201044748 A G 249634 Benign Malignant_hyperthermia_susceptibility|Hypokale... 0.70329 0.78137 0.75959 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
838 678221 1 201046379 T G 657275 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
839 678220 1 201046388 A G 657278 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
840 678219 1 201052640 G A 657249 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
841 678218 1 201058692 T C 657290 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
842 678216 1 201060525 C T 657277 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
843 254852 1 201060865 G A 249654 Benign Malignant_hyperthermia_susceptibility|Hypokale... 0.32977 0.38867 0.30511 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
844 294795 1 201252701 A T 279712 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.61362 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
845 294839 1 201299470 A C 278505 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.67193 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
846 294846 1 201299748 G A 279643 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.62939 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
847 294847 1 201299785 A C 278428 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.80132 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
848 294851 1 201299852 A G 278508 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.6274 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
849 294854 1 201299900 G A 278432 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.6274 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
850 294871 1 201300842 T C 279691 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.90415 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
851 294872 1 201300858 C A 278521 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.94669 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
852 294886 1 201301873 A G 279700 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.84225 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
853 294887 1 201301906 C G 279701 Benign Ectodermal_dysplasia_skin_fragility_syndrome . . 0.86422 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
854 256845 1 201331554 T G 249665 Benign Familial_hypertrophic_cardiomyopathy_2|not_spe... 0.73412 0.73349 0.74221 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
855 671946 1 201331664 C A 657344 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
856 43632 1 201334382 G A 52801 Benign/Likely_benign Cardiomyopathy|Hypertrophic_cardiomyopathy|Lef... 0.68276 0.7194 0.69509 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
857 684018 1 201336641 G A 657303 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
858 256843 1 201336984 C T 249666 Benign not_specified 0.32685 . 0.28554 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
859 671945 1 201337170 A G 657292 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
860 684013 1 201342862 C T 657320 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
861 8112 1 203155882 G C 23151 risk_factor Asthma-related_traits,_susceptibility_to,_7 . . 0.78554 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
862 294949 1 203198845 C T 279777 Likely_benign Chitotriosidase_deficiency 0.0392 0.05698 0.02077 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
863 677222 1 203472112 T C 655057 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
864 256380 1 204129671 A C 249672 Benign not_specified 0.24643 . 0.28115 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
865 403018 1 204159611 CT C 389367 Benign not_specified 0.16724 0.2983 0.22185 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
866 801606 1 205031116 C T 789914 Benign Epilepsy,_familial_adult_myoclonic,_5 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
867 260658 1 205129319 G A 249674 Benign not_specified 0.28564 0.30096 0.37141 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
868 260657 1 205130413 A G 249675 Benign not_specified 0.93019 0.93167 0.96106 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
869 403451 1 205884274 T C 389347 Benign not_specified 0.19937 0.10549 0.15415 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
870 403454 1 205890679 T C 389371 Benign not_specified 0.90428 0.91504 0.91414 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
871 16873 1 206946407 T G 31912 protective,_risk_factor Human_immunodeficiency_virus_type_1,_susceptib... . . 0.5651 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
872 402444 1 207297680 T C 389358 Benign not_specified 0.86099 0.85449 0.85783 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
873 810914 1 207653364 A G 799152 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
874 402562 1 207653395 C A 389350 Benign not_specified 0.87879 0.88354 0.94289 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
875 294983 1 207967719 T C 278756 Benign Atypical_hemolytic_uremic_syndrome . . 0.34724 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
876 368859 1 209788213 T C 353088 Benign Epidermolysis_bullosa,_junctional . . 0.77476 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
877 295059 1 209788514 G A 280031 Benign Epidermolysis_bullosa,_junctional . . 0.29513 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
878 255590 1 209792015 A AC 249681 Benign Epidermolysis_bullosa,_junctional|not_specifie... 0.95184 0.95669 0.98363 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
879 255587 1 209799253 A G 249684 Benign Epidermolysis_bullosa,_junctional|not_specified 0.746 0.75645 0.76498 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
880 255598 1 209804095 G A 249689 Benign Epidermolysis_bullosa,_junctional|not_specified 0.84061 0.84717 0.82328 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
881 255596 1 209807972 G A 249691 Benign Epidermolysis_bullosa,_junctional|not_specified 0.3137 0.36248 0.24541 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
882 255592 1 209811886 T G 249694 Benign Epidermolysis_bullosa,_junctional|not_specified 0.57458 0.57094 0.43251 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
883 255584 1 209823354 G A 249695 Benign Epidermolysis_bullosa,_junctional|not_specified 0.24235 0.27791 0.29792 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
884 295175 1 209959614 G T 280046 Benign Popliteal_pterygium_syndrome|Van_der_Woude_syn... . . 0.3099 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
885 295178 1 209959872 G A 280163 Benign Popliteal_pterygium_syndrome|Van_der_Woude_syn... . . 0.80811 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
886 295184 1 209960436 G A 280053 Benign Popliteal_pterygium_syndrome|Van_der_Woude_syn... . . 0.29912 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
887 295190 1 209960925 T C 280057 Benign Popliteal_pterygium_syndrome|Van_der_Woude_syn... . . 0.29712 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
888 295193 1 209961023 T A 280172 Benign Popliteal_pterygium_syndrome|Van_der_Woude_syn... . . 0.30371 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
889 295199 1 209961314 T C 280174 Benign Popliteal_pterygium_syndrome|Van_der_Woude_syn... . . 0.08746 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
890 259926 1 209965587 G C 249700 Benign not_specified 0.34453 . 0.40515 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
891 259925 1 209968684 C A 249701 Benign Popliteal_pterygium_syndrome|Van_der_Woude_syn... 0.34238 . 0.40375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
892 259923 1 209969902 G C 249702 Benign Van_der_Woude_syndrome|not_specified 0.33054 0.32601 0.27097 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
893 295267 1 211665298 A AG 278948 Benign Leber_congenital_amaurosis . . 0.73902 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
894 295305 1 211666218 A G 278964 Likely_benign Leber_congenital_amaurosis . . 0.48203 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
895 717611 1 211844535 C G 729961 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
896 403228 1 211846876 A G 389380 Benign not_specified 0.50146 0.55836 0.60304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
897 177993 1 215848641 T C 172380 Benign not_specified 0.75442 0.76619 0.6897 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
898 667898 1 215901987 G T 657334 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
899 48378 1 215914826 T C 57540 Benign not_specified 0.21844 . 0.15934 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
900 48377 1 215916563 G A 57539 Benign Usher_syndrome,_type_2A|not_specified 0.20245 0.19185 0.14457 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
901 678886 1 215931704 T C 657298 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
902 667897 1 215932743 T G 657339 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
903 667896 1 215933460 C T 657341 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
904 672465 1 215955813 T C 657342 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
905 678885 1 215955869 T C 657346 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
906 678884 1 215955937 T G 657343 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
907 48344 1 215960167 T G 57506 Benign Usher_syndrome,_type_2A|not_specified 0.57058 0.54689 0.58866 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
908 672464 1 215960476 T G 657347 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
909 671597 1 215968078 A G 657348 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
910 137896 1 216143948 T C 141599 Benign not_specified 0.10334 . 0.07847 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
911 48562 1 216172380 A G 57724 Benign Usher_syndrome,_type_2A|not_specified 0.48093 0.55669 0.59345 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
912 167815 1 216219781 A G 172908 Benign Usher_syndrome,_type_2A|not_specified 0.70045 0.60693 0.59565 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
913 177992 1 216348764 C T 172529 Benign not_specified 0.60641 0.65801 0.66234 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
914 667894 1 216390475 C T 657377 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
915 48483 1 216424303 A G 57645 Benign not_specified|not_provided 0.01292 0.01581 0.00739 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
916 295461 1 218519260 A C 279029 Benign Loeys-Dietz_syndrome . . 0.9994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
917 295476 1 218519398 GCA G 280527 Likely_benign Loeys-Dietz_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
918 213836 1 218578521 G A 209434 Benign/Likely_benign Connective_tissue_disorder|Loeys-Dietz_syndrom... 0.00069 0.00089 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
919 295576 1 220087703 C T 280820 Likely_benign Hypermanganesemia_with_dystonia_1 . . 0.04093 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
920 295578 1 220088047 C A 280787 Benign Hypermanganesemia_with_dystonia_1 . . 0.86981 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
921 380570 1 220267581 G T 364655 Benign not_specified|not_provided 0.01479 0.03515 0.02895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
922 380023 1 220269439 A T 364786 Benign not_specified|not_provided 0.03454 0.08087 0.07129 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
923 680665 1 220269800 C T 657384 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
924 676140 1 220275378 G A 657376 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
925 680611 1 220276333 A G 657379 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
926 680672 1 220287350 C T 657381 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
927 680614 1 220287461 C T 657385 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
928 680673 1 220288100 G A 657392 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
929 380024 1 220319007 A G 364901 Benign not_specified 0.07789 0.1023 0.06909 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
930 680616 1 220320541 A G 657393 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
931 295635 1 220324189 A G 280822 Likely_benign Martsolf_syndrome|Warburg_micro_syndrome . . 0.0627 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
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933 130079 1 220331205 C G 135525 Benign/Likely_benign Martsolf_syndrome|Warburg_micro_syndrome|not_s... 0.0692 0.08945 0.0603 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
934 680734 1 220383449 C G 657397 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
935 673980 1 220406291 A G 657395 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
936 262131 1 223178561 A C 249737 Benign not_specified 0.53491 0.54533 0.498 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
937 6659 1 223284599 T C 21698 risk_factor Legionellosis . 0.14872 0.14018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
938 402644 1 225230608 C T 389376 Benign not_specified 0.82435 0.86591 0.70128 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
939 402645 1 225266966 C G 389361 Benign not_specified 0.82661 0.86544 0.70228 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
940 402646 1 225268106 C A 389364 Benign not_specified 0.03044 . 0.01597 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
941 402647 1 225268343 A G 389366 Benign not_specified 0.82676 0.86543 0.70328 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
942 402648 1 225268346 G A 389396 Benign not_specified 0.82676 0.8663 0.70268 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
943 402649 1 225270409 A T 389369 Benign not_specified 0.76172 0.80199 0.66214 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
944 402650 1 225273248 G T 389401 Benign not_specified 0.82513 0.86657 0.70208 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
945 402652 1 225439988 T C 389377 Benign not_specified 0.34735 0.3252 0.48502 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
946 402653 1 225445652 G T 389378 Benign not_specified 0.32435 0.3248 0.48502 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
947 402656 1 225528183 C A 389404 Benign not_specified 0.49255 0.49343 0.52975 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
948 402657 1 225533684 A G 389385 Benign not_specified 0.49234 0.50697 0.52895 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
949 402659 1 225534219 T C 389383 Benign not_specified 0.49276 0.49357 0.52915 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
950 402660 1 225534348 G A 389387 Benign not_specified . 0.51232 0.52915 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
951 402661 1 225555512 C T 389391 Benign not_specified 0.46408 0.42805 0.32508 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
952 402662 1 225555602 T G 389393 Benign not_specified 0.46846 0.43339 0.32947 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
953 402663 1 225562385 C T 389386 Benign not_specified 0.72339 0.7486 0.70967 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
954 402664 1 225565015 T C 389408 Benign not_specified 0.56176 0.55721 0.55631 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
955 402665 1 225565073 C T 389410 Benign not_specified 0.49015 0.50025 0.49181 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
956 402666 1 225569241 T G 389388 Benign not_specified 0.53198 0.54833 0.52836 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
957 295935 1 225599035 A G 280960 Conflicting_interpretations_of_pathogenicity Greenberg_dysplasia|not_provided 0.00054 0.00018 0.0006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
958 258619 1 225607144 C T 249738 Benign Greenberg_dysplasia|not_specified|not_provided 0.70329 0.80092 0.71226 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
959 258617 1 225609884 A G 249740 Benign Greenberg_dysplasia|not_specified|not_provided 0.65916 . 0.67093 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
960 258616 1 225611661 C T 249741 Benign Greenberg_dysplasia|not_specified|not_provided 0.69899 0.71123 0.65715 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
961 810884 1 225611845 C T 799185 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
962 256184 1 227069677 T C 249746 Benign/Likely_benign Early-Onset_Familial_Alzheimer_Disease|not_spe... 0.7931 0.76035 0.73562 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
963 256180 1 227069737 C T 249747 Benign/Likely_benign Alzheimer_disease,_type_4|Early-Onset_Familial... 0.48954 0.49948 0.44329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
964 256181 1 227071525 C T 249748 Benign/Likely_benign Alzheimer_disease,_type_4|Early-Onset_Familial... 0.49016 0.49907 0.44329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
965 296001 1 227083550 C T 281058 Likely_benign Early-Onset_Familial_Alzheimer_Disease|Dilated... . . 0.45088 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
966 683200 1 227165484 T C 657414 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
967 671530 1 227170298 A G 657420 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
968 671531 1 227170543 C G 657424 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
969 671532 1 227170768 T C 657396 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
970 128274 1 227172290 C T 133723 Benign Coenzyme_Q10_deficiency,_primary,_4|not_specif... 0.37367 . 0.23862 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
971 676090 1 227172903 G A 657418 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
972 518313 1 227172935 C G 508767 Likely_benign Coenzyme_Q10_deficiency,_primary,_4 0.39859 0.36315 0.26518 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
973 683201 1 227173892 T A 657421 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
974 296024 1 227174145 T C 279683 Benign Coenzyme_Q10_deficiency,_primary,_4|Autosomal_... 0.4757 0.41548 0.35164 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
975 128275 1 227174210 T C 133724 Benign Coenzyme_Q10_deficiency,_primary,_4|not_specif... 0.44218 0.40536 0.3139 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
976 296038 1 227174823 A AT 280934 Benign Autosomal_recessive_cerebellar_ataxia|Coenzyme... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
977 296040 1 227174902 G A 281095 Benign Autosomal_recessive_cerebellar_ataxia|Coenzyme... . . 0.35204 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
978 296045 1 227175119 G A 281096 Likely_benign Autosomal_recessive_cerebellar_ataxia|Coenzyme... . . 0.09445 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
979 296050 1 227175245 C CT 281105 Benign Autosomal_recessive_cerebellar_ataxia|Coenzyme... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
980 368867 1 227175253 C T 353096 Benign Autosomal_recessive_cerebellar_ataxia|Coenzyme... . . 0.41913 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
981 380039 1 228353651 G C 364874 Benign not_specified|not_provided . 0.48905 0.35603 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
982 684212 1 228362213 C G 657426 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
983 379988 1 228362682 G A 364698 Benign not_specified|not_provided 0.25694 0.28943 0.15695 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
984 713265 1 228451941 C T 718723 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
985 676564 1 229568231 T G 657430 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
986 767760 1 229663064 GAGGAA G 777079 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
987 254725 1 230841687 T C 249765 Benign Renal_dysplasia|not_specified 0.94087 0.94407 0.97264 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
988 18068 1 230845794 A G 33107 Benign Hypertension,_essential,_susceptibility_to|Pre... . 0.54843 0.70507 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
989 296083 1 230845977 G A 280975 Likely_benign Renal_dysplasia 0.10926 0.12301 0.10164 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
990 296090 1 230849872 C T 281157 Benign Renal_dysplasia|not_provided . . 0.71046 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
991 296092 1 230849886 T G 280986 Likely_benign Renal_dysplasia . . 0.17592 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
992 296097 1 230850083 C T 279450 Benign Renal_dysplasia . . 0.1895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
993 296108 1 231377081 C T 279735 Benign Rhizomelic_chondrodysplasia_punctata|not_speci... 0.5509 0.54901 0.58187 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
994 671164 1 231396634 T C 657443 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
995 671168 1 231400905 A G 657355 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
996 260363 1 231401902 G A 249768 Benign Rhizomelic_chondrodysplasia_punctata|Rhizomeli... 0.5948 0.56762 0.62859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
997 671169 1 231403265 T C 657404 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
998 671188 1 231403830 C T 657356 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
999 671189 1 231403966 A G 657452 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1000 671190 1 231406295 T C 657453 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1001 671196 1 231406961 C T 657358 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1002 667599 1 231410115 T C 657459 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1003 296151 1 231500238 A G 281187 Benign Familial_erythrocytosis . . 0.02736 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1004 98346 1 231830295 G A 104239 not_provided not_provided 0.26003 0.29234 0.23223 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1005 402981 1 234743237 G A 389397 Benign not_specified 0.12417 0.10904 0.08526 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1006 402984 1 234745009 A G 389426 Benign not_specified . 0.63648 0.60383 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1007 296305 1 235600741 A G 281239 Likely_benign Hypoparathyroidism_retardation_dysmorphism_syn... 0.04944 0.02269 0.03614 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1008 262651 1 235652513 T C 249770 Benign not_specified 0.52091 0.58398 0.67871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1009 403065 1 235826382 TA T 389398 Benign/Likely_benign Chédiak-Higashi_syndrome|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1010 684368 1 235827641 C T 657363 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1011 684367 1 235856395 A C 657477 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1012 254908 1 235860340 C T 249775 Benign not_specified|not_provided 0.58228 0.4366 0.39996 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1013 684363 1 235872665 T C 657480 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1014 684361 1 235887276 G T 657482 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1015 684360 1 235896726 C T 657489 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1016 672017 1 235906983 T C 657493 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1017 254935 1 235922228 T C 249784 Benign not_specified 0.31893 0.24895 0.23003 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1018 254931 1 235922671 T G 249788 Conflicting_interpretations_of_pathogenicity Chédiak-Higashi_syndrome|not_specified|not_pro... 0.00469 0.00428 0.00359 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1019 684352 1 235933904 C T 657494 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1020 254927 1 235940450 C T 249791 Benign Chédiak-Higashi_syndrome|not_specified|not_pro... 0.43541 0.34832 0.30092 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1021 254923 1 235945294 T C 249795 Benign Chédiak-Higashi_syndrome|not_specified|not_pro... 0.43611 0.35012 0.30351 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1022 684345 1 235945502 A G 657454 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1023 254912 1 235972435 T C 249806 Benign Chédiak-Higashi_syndrome|not_specified|not_pro... 0.43665 0.34992 0.30272 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1024 254910 1 235972867 T C 249807 Benign Chédiak-Higashi_syndrome|not_specified|not_pro... 0.43649 0.34999 0.30332 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1025 684339 1 235976594 C T 657366 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1026 684338 1 235976651 T C 657368 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1027 262600 1 236557771 G A 249813 Benign not_specified|Hypohidrotic_Ectodermal_Dysplasi... 0.73835 . 0.77676 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1028 439637 1 236557928 G A 433521 Benign not_specified . . 0.77236 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1029 262602 1 236645670 C T 249816 Benign/Likely_benign not_specified|Hypohidrotic_Ectodermal_Dysplasi... 0.18968 0.20239 0.13319 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1030 671981 1 236850256 A G 657372 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1031 671982 1 236881403 C T 657423 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1032 671983 1 236882110 G A 657435 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1033 43937 1 236882303 T C 53106 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.99223 0.99791 0.99261 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1034 678437 1 236883161 A G 657436 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1035 671984 1 236883240 T C 657439 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1036 43938 1 236883421 C T 53107 Benign not_specified|not_provided 0.93772 0.96238 0.92073 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1037 671985 1 236883564 G A 657440 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1038 672001 1 236883686 G T 657442 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1039 672002 1 236890781 A G 657373 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1040 671060 1 236894647 G A 657467 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1041 672003 1 236897633 A G 657456 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1042 672004 1 236898035 T C 657468 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1043 177799 1 236899042 G A 172789 Benign not_specified|not_provided 0.15662 0.16674 0.19589 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1044 672005 1 236900018 G A 657513 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1045 678091 1 236902364 C T 657461 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1046 671061 1 236902560 C T 657476 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1047 43950 1 236902594 C G 53119 Benign/Likely_benign Hypertrophic_cardiomyopathy|Dilated_cardiomyop... 0.77749 . 0.76757 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1048 671062 1 236902865 A C 657522 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1049 672006 1 236902955 T C 657466 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1050 672446 1 236910863 T C 657470 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1051 682668 1 236911343 C T 657416 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1052 672007 1 236912219 G T 657527 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1053 672008 1 236912286 G A 657491 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1054 682669 1 236912839 A G 657488 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1055 672009 1 236914576 C T 657531 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1056 672010 1 236914610 G C 657501 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1057 682671 1 236915207 G A 657492 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1058 682681 1 236918005 T C 657547 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1059 672011 1 236923299 A G 657517 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1060 682682 1 236923390 C A 657499 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1061 671063 1 236924506 A G 657523 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1062 43933 1 236925844 G A 53102 Benign/Likely_benign Hypertrophic_cardiomyopathy|Dilated_cardiomyop... 0.1557 0.16881 0.19609 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1063 296512 1 236926030 A G 281366 Likely_benign Hypertrophic_cardiomyopathy|Dilated_Cardiomyop... . . 0.34984 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1064 296517 1 236926366 C G 280081 Likely_benign Hypertrophic_cardiomyopathy|Dilated_Cardiomyop... . . 0.40455 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1065 296518 1 236926445 T C 281561 Likely_benign Hypertrophic_cardiomyopathy|Dilated_Cardiomyop... . . 0.55731 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1066 296520 1 236926643 G C 281562 Likely_benign Hypertrophic_cardiomyopathy|Dilated_Cardiomyop... . . 0.21745 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1067 296521 1 236926667 A G 279762 Likely_benign Hypertrophic_cardiomyopathy|Dilated_Cardiomyop... . . 0.39916 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1068 138288 1 237038161 T C 141991 Benign Disorders_of_Intracellular_Cobalamin_Metabolis... 0.26665 0.3184 0.23223 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1069 138289 1 237048500 A G 141992 Benign Neural_tube_defects,_folate-sensitive,_suscept... 0.22036 0.20908 0.21825 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1070 138284 1 237058828 C T 141987 Benign Disorders_of_Intracellular_Cobalamin_Metabolis... 0.54606 . 0.52915 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1071 138285 1 237060433 G T 141988 Benign Disorders_of_Intracellular_Cobalamin_Metabolis... 0.71336 0.67559 0.7524 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1072 296586 1 237060945 CT C 280140 Conflicting_interpretations_of_pathogenicity METHYLCOBALAMIN_DEFICIENCY,_cblG_TYPE|Disorder... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1073 296587 1 237061056 A C 279822 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.54014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1074 296598 1 237061849 G A 281447 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.24601 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1075 296610 1 237062198 A C 279848 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.76458 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1076 296611 1 237062305 A G 281657 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.76438 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1077 296618 1 237062628 C T 281662 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.20367 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1078 296631 1 237063335 G C 281701 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.73283 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1079 296635 1 237063709 T TA 281703 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1080 296637 1 237063717 AAG A 280180 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1081 296655 1 237064626 T G 280196 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.53974 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1082 296668 1 237065326 C T 281517 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.54473 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1083 296673 1 237065583 G T 280208 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.76458 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1084 668912 1 237433524 C T 657524 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1085 672066 1 237433625 C T 657528 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1086 683744 1 237434181 G A 657549 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1087 683746 1 237434251 A T 657437 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1088 683751 1 237493854 C A 657447 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1089 671021 1 237519137 T A 657533 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1090 683754 1 237550323 A C 657540 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1091 43817 1 237551376 T A 52986 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.52728 . 0.55651 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1092 671745 1 237580606 G T 657541 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1093 671746 1 237580612 G C 657557 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1094 43749 1 237619875 AT A 52918 Benign/Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1095 683767 1 237654831 G T 657521 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1096 669198 1 237656018 A C 657496 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1097 671748 1 237693471 T C 657625 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1098 673303 1 237693479 C T 657564 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1099 672071 1 237693921 A G 657535 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1100 670895 1 237694039 G A 657627 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1101 683776 1 237711457 A G 657569 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1102 671749 1 237711644 T C 657532 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1103 43763 1 237711797 A G 52932 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.85111 . 0.83027 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1104 669902 1 237713557 A G 657571 Likely_benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1105 671750 1 237729774 G A 657572 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1106 257207 1 237730124 A G 249820 Benign not_specified|not_provided 0.90552 0.95754 0.90555 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1107 671751 1 237730169 C T 657534 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1108 671752 1 237732332 C T 657643 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1109 257208 1 237732395 G A 249821 Benign not_specified|not_provided 0.5935 0.6443 0.49281 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1110 672072 1 237753364 A C 657559 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1111 672073 1 237753390 A G 657550 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1112 674656 1 237753519 T C 657583 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1113 669266 1 237753542 C T 657646 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1114 683778 1 237753571 G A 657584 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1115 257210 1 237754340 A G 249823 Benign not_specified|not_provided 0.38631 0.44671 0.33746 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1116 683781 1 237754605 G A 657648 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1117 671504 1 237754963 A G 657553 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1118 43782 1 237755076 A G 52951 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.0161 0.01824 0.00719 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1119 257211 1 237755188 C T 249824 Benign not_specified|not_provided 0.38915 0.45979 0.33586 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1120 257212 1 237755203 T C 249825 Benign not_specified|not_provided 0.3819 0.43174 0.33746 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1121 671201 1 237755348 T C 657555 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1122 671202 1 237755402 T G 657651 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1123 672074 1 237757027 G A 657656 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1124 672075 1 237765200 G A 657565 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1125 671203 1 237765470 A T 657562 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1126 683782 1 237774614 C T 657599 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1127 671769 1 237788844 T C 657598 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1128 671770 1 237788862 T C 657666 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1129 672078 1 237789317 A G 657603 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1130 671771 1 237791674 C T 657588 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1131 671772 1 237794603 A G 657607 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1132 683784 1 237795150 G C 657612 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1133 671773 1 237796759 G C 657626 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1134 257214 1 237796837 G A 249826 Benign not_specified|not_provided 0.38679 0.36365 0.42851 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1135 671205 1 237797082 T G 657616 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1136 671206 1 237797103 C A 657618 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1137 671774 1 237797973 C T 657681 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1138 671775 1 237797997 A G 657637 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1139 671776 1 237798450 G A 657621 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1140 43819 1 237801770 T C 52988 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.95921 0.98839 0.95487 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1141 683787 1 237807069 T C 657630 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1142 672095 1 237813030 C T 657631 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1143 671777 1 237813126 A G 657605 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1144 43827 1 237814783 C T 52996 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.45073 0.51982 0.55491 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1145 671207 1 237814898 C A 657613 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1146 672096 1 237817784 A G 657635 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1147 672097 1 237819014 C G 657619 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1148 672098 1 237819431 C T 657645 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1149 672099 1 237821109 T A 657657 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1150 670946 1 237823959 C T 657678 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1151 671026 1 237824332 G A 657663 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1152 683788 1 237830895 G T 657680 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1153 671208 1 237831103 C A 657664 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1154 36750 1 237841390 A G 45411 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.22487 0.25333 0.09924 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1155 672100 1 237862436 T C 657629 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1156 672101 1 237862458 A G 657667 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1157 683792 1 237862587 G A 657668 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1158 683794 1 237863210 G T 657669 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1159 43836 1 237863718 T G 53005 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.97182 . 0.96925 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1160 671778 1 237865203 C T 657711 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1161 683789 1 237875417 C T 657640 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1162 43699 1 237881770 C T 52868 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.96162 0.98859 0.96046 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1163 672102 1 237886739 C T 657655 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1164 43702 1 237890437 C T 52871 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.96078 0.98853 0.96026 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1165 198668 1 237893674 C T 195829 Benign not_specified 0.98538 0.99539 0.98522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1166 683797 1 237896736 G A 657676 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1167 683793 1 237905342 G A 657712 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1168 672103 1 237924044 T C 657719 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1169 669249 1 237949020 T TG 657700 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1170 93476 1 237951451 A G 99381 Benign not_specified 0.61764 0.575 0.63658 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1171 257200 1 237951482 G A 249835 Benign not_specified|not_provided 0.35603 0.27881 0.29792 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1172 672161 1 237954545 G C 657746 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1173 257201 1 237957146 G A 249836 Benign not_specified 0.62419 0.71344 0.73403 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1174 43731 1 237957161 A G 52900 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.65138 0.73989 0.75759 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1175 43732 1 237957309 A C 52901 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... 0.64784 0.72731 0.7508 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1176 669618 1 237958925 A ATTTT 657707 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1177 678017 1 237961712 C CTATT 657734 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1178 683800 1 237961740 T C 657745 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1179 683802 1 237961789 T C 657761 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1180 669252 1 237964934 A G 657762 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1181 683804 1 237995162 T TTTGA 657773 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1182 672106 1 237995671 A G 657743 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1183 296789 1 237996581 G GA 280387 Uncertain_significance Arrhythmogenic_right_ventricular_cardiomyopath... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1184 296799 1 237996661 C G 281694 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... . . 0.22045 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1185 296809 1 237997087 A G 281876 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... . . 0.24681 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1186 683908 1 241671638 C T 657728 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1187 260006 1 243493907 A T 249851 Benign Renal_dysplasia_and_retinal_aplasia|Bardet-Bie... 0.26818 0.29756 0.27137 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1188 260008 1 243507680 C CA 249853 Benign not_specified 0.28175 0.2608 0.23782 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1189 677638 1 243827863 A G 656829 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1190 296931 1 247581692 T C 280586 Benign Familial_amyloid_nephropathy_with_urticaria_AN... . . 0.9978 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1191 138528 1 247587477 G A 142231 Benign Familial_amyloid_nephropathy_with_urticaria_AN... 0.40597 . 0.38738 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1192 403243 1 247587531 A G 389399 Benign not_specified 0.91881 0.94259 0.91993 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1193 296956 1 247612036 G C 280213 Benign Familial_amyloid_nephropathy_with_urticaria_AN... . . 0.65355 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1194 296960 1 247612202 T A 281902 Benign Familial_amyloid_nephropathy_with_urticaria_AN... . . 0.13159 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1195 767775 1 248343990 T C 696646 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1196 331215 2 1417244 A G 282528 Likely_benign Congenital_hypothyroidism . . 0.63239 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1197 256607 2 1418192 C G 250164 Benign/Likely_benign Congenital_hypothyroidism|Deficiency_of_iodide... 0.3553 . 0.3117 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1198 256605 2 1481155 G T 250167 Benign/Likely_benign Congenital_hypothyroidism|Deficiency_of_iodide... 0.4069 0.45782 0.40815 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1199 256606 2 1481231 G C 250168 Benign Congenital_hypothyroidism|Deficiency_of_iodide... 0.78163 0.64004 0.71026 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1200 256608 2 1497803 C T 250170 Benign/Likely_benign Congenital_hypothyroidism|Deficiency_of_iodide... 0.35053 0.36304 0.35903 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1201 256610 2 1499899 C T 250173 Benign/Likely_benign Congenital_hypothyroidism|Deficiency_of_iodide... 0.41304 . 0.4389 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1202 256611 2 1499927 A C 250174 Benign/Likely_benign Congenital_hypothyroidism|Deficiency_of_iodide... 0.47032 0.42798 0.4984 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1203 256614 2 1520676 T C 250292 Benign Congenital_hypothyroidism|Deficiency_of_iodide... 0.61326 0.58982 0.66394 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1204 331644 2 1546327 C G 282293 Likely_benign Congenital_hypothyroidism 0.38152 . 0.35264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1205 260228 2 1647171 T C 250314 Benign not_specified|not_provided 0.86344 . 0.90775 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1206 260224 2 1652660 G A 250318 Benign not_specified|not_provided 0.25024 . 0.24481 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1207 260223 2 1652822 T G 250319 Benign not_specified|not_provided 0.89915 . 0.9355 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1208 260220 2 1664654 A G 250345 Benign not_specified|not_provided 0.71349 0.75601 0.8109 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1209 683674 2 3597974 T C 655445 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1210 669563 2 3599539 A G 659171 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1211 683672 2 3599700 G T 659096 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1212 683668 2 3605468 A G 659172 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1213 670034 2 3605528 T G 659098 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1214 670028 2 3605538 A C 659196 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1215 335905 2 3628383 C A 289245 Benign Diamond-Blackfan_anemia|not_specified 0.13942 0.12025 0.13339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1216 402557 2 3653844 T C 389501 Benign not_specified . 0.78266 0.7512 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1217 402556 2 3673648 G A 389503 Benign not_specified 0.10795 0.12722 0.11921 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1218 330649 2 10192851 G GTT 281475 Benign Maturity_onset_diabetes_mellitus_in_young . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1219 330669 2 10194192 T C 281495 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.83087 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1220 330674 2 10194487 T C 283502 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.58706 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1221 403386 2 11333994 T G 389448 Benign not_specified 0.23093 0.31816 0.30192 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1222 403387 2 11359120 G T 389439 Benign not_specified 0.45054 0.49815 0.39976 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1223 403044 2 11817812 G C 389455 Benign not_specified|not_provided . 0.63226 0.48642 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1224 96495 2 11905876 C T 102389 Benign not_specified 0.26465 0.29787 0.20467 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1225 683089 2 11924950 T C 658057 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1226 262586 2 11932173 G T 250105 Benign not_specified|not_provided 0.69622 0.55976 0.53694 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1227 683094 2 11932335 T C 658186 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1228 684303 2 11945533 C A 658010 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1229 262591 2 11955322 G C 250108 Benign/Likely_benign not_specified|Acute_Recurrent_Myoglobinuria 0.04536 . 0.04473 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1230 330929 2 11965541 A G 284019 Benign Acute_Recurrent_Myoglobinuria . . 0.69489 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1231 330932 2 11965814 C T 283783 Likely_benign Acute_Recurrent_Myoglobinuria . . 0.11641 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1232 330933 2 11965998 AG A 283789 Likely_benign Acute_Recurrent_Myoglobinuria . . 0.01897 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1233 330940 2 11966317 T C 283806 Benign Acute_Recurrent_Myoglobinuria . . 0.23123 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1234 330957 2 11967219 G T 282373 Uncertain_significance Acute_Recurrent_Myoglobinuria . . 0.00579 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1235 333371 2 20130145 T G 286855 Benign/Likely_benign Short_Rib_Polydactyly_Syndrome|Cranioectoderma... 0.0938 0.11481 0.14297 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1236 167846 2 20131184 C A 178154 Benign Short_Rib_Polydactyly_Syndrome|Cranioectoderma... 0.96455 0.98795 0.96486 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1237 256877 2 20135283 T C 250472 Benign Short_Rib_Polydactyly_Syndrome|Cranioectoderma... 0.42973 . 0.51078 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1238 333407 2 20189015 T C 283829 Benign/Likely_benign Short_Rib_Polydactyly_Syndrome|Multiple_Epiphy... 0.06543 0.10651 0.11861 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1239 256876 2 20189089 C T 250473 Benign not_specified 0.56812 0.54681 0.6216 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1240 333410 2 20192696 G A 284474 Benign Short_Rib_Polydactyly_Syndrome|Multiple_Epiphy... . . 0.50919 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1241 258646 2 20194036 G C 250475 Benign not_specified 0.42046 0.51581 0.50939 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1242 195170 2 20205680 C T 192331 Benign Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp... 0.42997 0.48371 0.52436 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1243 195169 2 20205848 G A 192330 Benign Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp... 0.43688 0.47539 0.52476 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1244 128418 2 21225281 C T 133867 Benign/Likely_benign Familial_hypercholesterolemia|Familial_hyperch... 0.80297 0.70574 0.62959 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1245 128425 2 21232195 G A 133874 Benign/Likely_benign Familial_hypercholesterolemia|Familial_hyperch... 0.41389 0.38994 0.251 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1246 128424 2 21232803 TG CA 133873 Benign/Likely_benign Familial_hypercholesterolemia|Familial_hyperch... 0.39597 0.38914 0.2492 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1247 335352 2 25383887 G A 289041 Likely_benign Proopiomelanocortin_deficiency|Monogenic_Non-S... . . 0.11562 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1248 706983 2 25565907 A G 695137 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1249 335372 2 26413917 C T 289069 Benign Mitochondrial_trifunctional_protein_deficiency... . . 0.78754 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1250 676137 2 26415429 A G 659109 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1251 676135 2 26416301 A G 659032 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1252 676286 2 26417829 G A 658940 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1253 676133 2 26420708 T G 659072 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1254 681693 2 26420809 G C 659036 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1255 673764 2 26424384 G A 659116 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1256 681690 2 26438276 T C 659121 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1257 681680 2 26460072 C T 659080 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1258 335395 2 26467666 G A 288705 Benign Mitochondrial_trifunctional_protein_deficiency... . . 0.45727 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1259 676138 2 26476977 A G 659125 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1260 92600 2 26477125 G GACT 98508 Benign Mitochondrial_trifunctional_protein_deficiency... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1261 335410 2 26512957 G C 289128 Benign Mitochondrial_trifunctional_protein_deficiency . . 0.71106 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1262 262566 2 26647277 T G 250699 Benign not_specified 0.78571 . 0.6234 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1263 402796 2 26667130 A G 389516 Benign not_specified 0.12525 0.18403 0.16114 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1264 262564 2 26667615 T C 250700 Benign not_specified 0.998 0.99933 0.9992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1265 262565 2 26671544 A G 250701 Benign not_specified 0.67846 0.71572 0.53035 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1266 402797 2 26676322 A G 389508 Benign not_specified 0.99531 0.99832 0.99441 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1267 683011 2 26707593 T A 659141 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1268 21864 2 26712561 C T 34716 Benign/Likely_benign Deafness,_autosomal_recessive_9|not_specified|... 0.08365 0.05546 0.05591 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1269 21836 2 26741961 G A 34688 Benign/Likely_benign Deafness,_autosomal_recessive_9|not_specified|... 0.36791 0.43498 0.26997 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1270 402999 2 26951449 G A 389500 Benign not_specified 0.97027 0.98929 0.96266 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1271 335473 2 27309659 A C 288764 Benign Fructosuria,_essential . . 0.54633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1272 335500 2 27322636 TCA T 285791 Likely_benign Fructosuria,_essential . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1273 95736 2 27589810 T C 101633 Benign Leukoencephalopathy_with_vanishing_white_matte... 0.41589 0.3986 0.38339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1274 95738 2 27592423 C T 101635 Benign Leukoencephalopathy_with_vanishing_white_matte... 0.41581 0.39619 0.3784 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1275 335549 2 27600239 G A 285839 Likely_benign Retinitis_Pigmentosa,_Dominant . . 0.35204 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1276 379412 2 27667297 A G 366599 Benign not_specified 0.47909 0.4403 0.45407 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1277 379411 2 27676287 A T 366532 Benign not_specified 0.37583 0.38857 0.35363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1278 683620 2 27684957 T C 659148 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1279 379410 2 27688601 C T 366610 Benign not_specified 0.47893 0.41865 0.45407 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1280 683618 2 27693485 T C 659095 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1281 476042 2 27693802 G C 451000 Conflicting_interpretations_of_pathogenicity not_specified|not_provided 0.00523 0.00721 0.0028 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1282 667025 2 29001691 A G 654284 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1283 335573 2 29284806 A G 286629 Benign Retinitis_Pigmentosa,_Recessive . . 0.92153 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1284 335575 2 29284981 T C 288858 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.49541 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1285 335576 2 29285065 A G 286632 Benign Retinitis_Pigmentosa,_Recessive . . 0.8157 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1286 335578 2 29285150 T C 289266 Benign Retinitis_Pigmentosa,_Recessive . . 0.97844 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1287 335583 2 29285210 C T 289296 Benign Retinitis_Pigmentosa,_Recessive . . 0.50978 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1288 335584 2 29285254 C T 288860 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.06929 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1289 335590 2 29285575 C T 285857 Benign Retinitis_Pigmentosa,_Recessive . . 0.59405 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1290 335591 2 29285631 A G 285858 Benign Retinitis_Pigmentosa,_Recessive . . 0.59445 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1291 335592 2 29285713 C T 288868 Benign Retinitis_Pigmentosa,_Recessive . . 0.58806 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1292 335599 2 29286072 G A 286655 Benign Retinitis_Pigmentosa,_Recessive . . 0.58007 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1293 335601 2 29286193 T C 285864 Benign Retinitis_Pigmentosa,_Recessive . . 0.6238 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1294 335605 2 29286364 C T 288870 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.13299 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1295 335609 2 29286509 T C 286672 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.36661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1296 335613 2 29286670 T C 286673 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.36701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1297 335621 2 29286905 G T 286682 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.33506 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1298 335625 2 29287192 G A 288899 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.13059 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1299 335627 2 29287227 TAA CAG 289343 Uncertain_significance Retinitis_Pigmentosa,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1300 335635 2 29287708 C T 285893 Likely_benign Retinitis_Pigmentosa,_Recessive 0.28404 0.26943 0.32708 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1301 287770 2 29294629 C T 272007 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Recessive 0.1753 0.17067 0.1248 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1302 287769 2 29294754 G C 272006 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Recessive 0.17511 0.17045 0.125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1303 193145 2 29295016 A G 190310 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Recessive 0.30468 0.26936 0.33387 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1304 335662 2 29295676 G A 288932 Likely_benign Retinitis_Pigmentosa,_Recessive 0.30412 0.2683 0.33167 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1305 335672 2 29296870 C T 285944 Likely_benign Retinitis_Pigmentosa,_Recessive 0.16815 0.16567 0.11122 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1306 335674 2 29297068 C T 286730 Likely_benign Retinitis_Pigmentosa,_Recessive 0.17319 0.17088 0.11661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1307 335677 2 29415792 G A 289362 Benign Neuroblastoma_Susceptibility . . 0.99281 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1308 133472 2 29416572 T C 137211 Benign Hereditary_cancer-predisposing_syndrome|Neurob... 0.99031 0.99716 0.99221 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1309 676841 2 29419591 G T 659127 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1310 676840 2 29436633 G T 658978 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1311 676839 2 29437182 T C 659162 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1312 259271 2 29446202 G A 250717 Benign Neuroblastoma_3|not_specified|Neuroblastoma_Su... 0.26634 0.28956 0.17652 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1313 259268 2 29455267 A G 250719 Benign Hereditary_cancer-predisposing_syndrome|Neurob... 0.66139 0.6121 0.5 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1314 676804 2 29541104 C T 659063 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1315 259266 2 29543663 T C 250720 Benign Hereditary_cancer-predisposing_syndrome|Neurob... 0.79094 . 0.77656 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1316 259274 2 29940529 A T 250722 Benign Hereditary_cancer-predisposing_syndrome|Neurob... 0.62702 . 0.58926 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1317 259269 2 30143499 G C 250724 Benign Hereditary_cancer-predisposing_syndrome|Neurob... 0.90929 0.89495 0.89377 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1318 335749 2 31558115 AAG A 286785 Likely_benign Xanthinuria . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1319 191300 2 31570376 T C 189103 Benign Xanthinuria|Deficiency_of_xanthine_oxidase|Xan... 0.75173 0.77846 0.77736 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1320 255969 2 31571241 G C 250726 Benign Xanthinuria|not_specified 0.74297 0.77612 0.76837 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1321 255968 2 31571786 A G 250727 Benign Xanthinuria|not_specified 0.77295 0.78635 0.79992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1322 801659 2 31572482 T TG 790228 Benign Xanthinuria_type_2 . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1323 97419 2 31749714 C T 103311 Benign 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de... . . 0.16693 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1324 335803 2 31749993 T C 286076 Likely_benign 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de... . . 0.01458 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1325 335811 2 31751042 T A 286098 Likely_benign 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de... . . 0.01458 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1326 97403 2 31805675 A G 103295 Benign not_specified|not_provided 0.70131 0.68441 0.64237 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1327 97400 2 31805706 G C 103292 Benign not_specified|not_provided 0.72447 0.69991 0.65216 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1328 97386 2 31806031 C G 103278 Benign 3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de... . . 0.64038 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1329 671069 2 32288478 C A 659068 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1330 684075 2 32340482 C G 659179 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1331 684076 2 32353188 T C 659185 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1332 667494 2 32370344 C T 659029 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1333 335865 2 32381110 T G 289568 Benign Spastic_paraplegia,_autosomal_dominant . . 0.33786 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1334 335875 2 32381715 G C 289215 Likely_benign Spastic_paraplegia,_autosomal_dominant . . 0.0028 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1335 335876 2 32381727 A AAGG 286164 Benign Spastic_paraplegia,_autosomal_dominant . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1336 335878 2 32381829 G A 286168 Benign Spastic_paraplegia,_autosomal_dominant . . 0.48003 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1337 335879 2 32381883 G A 286173 Likely_benign Spastic_paraplegia,_autosomal_dominant . . 0.003 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1338 783022 2 32656153 C T 708246 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1339 783023 2 32689842 C T 708251 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1340 783024 2 32702561 G A 708252 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1341 783116 2 32774505 C T 708254 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1342 783117 2 32819010 G A 708255 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1343 236028 2 33682737 G T 237595 association Lip_and_oral_cavity_carcinoma . . 0.64337 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1344 790641 2 36704117 C T 708265 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1345 335967 2 39209047 A G 289323 Likely_benign Gingival_fibromatosis|Noonan_syndrome . . 0.7476 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1346 335973 2 39209426 A G 286987 Likely_benign Gingival_fibromatosis|Noonan_syndrome . . 0.74661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1347 335979 2 39210398 A T 289331 Likely_benign Gingival_fibromatosis|Noonan_syndrome . . 0.89956 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1348 212289 2 39210719 T TTA 207000 Likely_benign Gingival_fibromatosis|Noonan_syndrome|not_spec... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1349 335987 2 39211121 T C 289686 Likely_benign Gingival_fibromatosis|Noonan_syndrome . . 0.76218 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1350 212288 2 39211358 TA T 207001 Likely_benign Gingival_fibromatosis|Noonan_syndrome|not_spec... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1351 336010 2 39212565 T TTG 287026 Likely_benign Gingival_fibromatosis|Noonan_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1352 336011 2 39212637 T C 289730 Likely_benign Gingival_fibromatosis|Noonan_syndrome . . 0.52336 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1353 561358 2 39216697 TA T 552503 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1354 561828 2 39216773 T C 552504 Benign not_provided . . 0.74401 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1355 259848 2 39224351 G T 250731 Benign not_specified 0.946 0.91882 0.90016 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1356 259847 2 39224615 G GT 250733 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1357 561381 2 39224637 G A 552509 Likely_benign not_provided . . 0.00659 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1358 180170 2 39233500 G A 178349 Benign Noonan_syndrome . . 0.90515 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1359 40708 2 39233584 C T 49178 Benign Rasopathy|not_specified|not_provided 0.00054 0.00067 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1360 561380 2 39234432 G C 552512 Likely_benign not_provided . . 0.00659 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1361 561827 2 39249409 C G 552519 Benign not_provided . . 0.72983 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1362 561826 2 39250673 A G 552527 Benign not_provided . . 0.72943 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1363 561825 2 39262068 C T 552528 Benign not_provided . . 0.89956 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1364 561372 2 39278066 C T 552534 Benign not_provided . . 0.89417 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1365 180179 2 39281730 G C 178351 Benign Noonan_syndrome|not_specified 0.93735 0.90141 0.89137 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1366 561824 2 39285551 TAAAC T 552538 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1367 336080 2 44101538 C T 286334 Benign Sitosterolemia|not_specified . 0.67334 0.76498 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1368 336112 2 44114074 G A 287094 Benign Leigh_syndrome . . 0.60064 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1369 684334 2 44116100 C T 659202 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1370 671284 2 44128912 C T 659221 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1371 684327 2 44139986 G A 659210 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1372 671279 2 44145799 C T 659128 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1373 684311 2 44190392 C T 659268 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1374 336184 2 44502788 A C 286471 Benign Cystinuria 0.77887 0.73275 0.70347 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1375 167690 2 45171842 A G 178072 Benign not_specified|not_provided 0.93688 0.92145 0.9375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1376 336258 2 46603671 C G 287200 Benign Familial_erythrocytosis 0.42911 . 0.3125 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1377 336293 2 46612326 GTT G 286566 Benign Familial_erythrocytosis . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1378 528477 2 47233120 C T 518362 Likely_benign not_provided 0.00038 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1379 678452 2 47390026 C T 659070 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1380 683290 2 47390058 T C 659303 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1381 676950 2 47643191 C G 659157 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1382 36564 2 47656801 G A 45226 Benign Lynch_syndrome . . 0.59365 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1383 90598 2 47663845 G A 96073 Benign Lynch_syndrome . . 0.59924 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1384 90607 2 47666838 T C 96082 Benign Lynch_syndrome . . 0.08247 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1385 90609 2 47671742 A C 96084 Benign Lynch_syndrome . . 0.60124 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1386 90599 2 47672569 G A 96074 Benign Lynch_syndrome|not_provided . . 0.79473 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1387 90687 2 47692281 C T 96162 Benign Lynch_syndrome . . 0.55671 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1388 90846 2 47703241 A G 96321 Benign Lynch_syndrome . . 0.55192 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1389 676471 2 47703379 C T 659239 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390 676957 2 47703885 G A 659163 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1391 90924 2 47704027 G C 96399 Benign Lynch_syndrome . . 0.96246 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1392 41867 2 47739551 A G 50306 Benign not_specified|not_provided 0.42919 0.45795 0.52795 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1393 36581 2 48010488 G A 45243 Benign Hereditary_cancer-predisposing_syndrome|Lynch_... 0.17965 . 0.20088 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1394 89294 2 48012846 C T 94768 Benign Lynch_syndrome . . 0.29433 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1395 89521 2 48019485 T C 94995 Benign Lynch_syndrome . . 0.16953 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1396 676475 2 48022900 A G 659241 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397 89532 2 48022981 G T 95006 Benign Lynch_syndrome 0.22616 . 0.22444 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1398 89544 2 48024876 C T 95018 Benign Lynch_syndrome . . 0.73782 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1399 89345 2 48030458 G C 94819 Benign Lynch_syndrome|not_specified . . 0.82248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1400 42471 2 48030838 A T 51641 Benign Hereditary_cancer-predisposing_syndrome|Lynch_... 0.31462 0.40426 0.40096 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1401 89410 2 48032312 G A 94884 Benign Lynch_syndrome . . 0.67232 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1402 595919 2 48032613 G A 586980 Benign not_specified . . 0.76957 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1403 89429 2 48032874 ACTAT A 94903 Benign Lynch_syndrome|not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1404 89432 2 48032937 T C 94906 Benign Lynch_syndrome|not_specified . . 0.8143 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1405 36594 2 48033551 C G 45256 Benign Lynch_syndrome|Hereditary_nonpolyposis_colorec... 0.78722 0.74265 0.80911 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1406 336454 2 48914615 C G 286696 Benign Hypergonadotropic_hypogonadism|Leydig_cell_age... . . 0.16274 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1407 255607 2 48915871 A G 250744 Benign Hypergonadotropic_hypogonadism|Leydig_cell_age... 0.49669 0.60263 0.59225 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1408 255609 2 48921375 T C 250745 Benign Hypergonadotropic_hypogonadism|Leydig_cell_age... 0.49122 0.63762 0.59105 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1409 255608 2 48925746 C T 250746 Benign Hypergonadotropic_hypogonadism|Leydig_cell_age... 0.85238 0.76565 0.73742 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1410 137403 2 49381585 C T 141106 Benign Ovarian_hyperstimulation_syndrome|Ovarian_dysg... 0.25911 0.31602 0.34505 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1411 336515 2 50147171 C A 290280 Benign Pitt-Hopkins-like_syndrome . . 0.22724 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1412 336528 2 50148111 A AAAGT 289874 Benign Pitt-Hopkins-like_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1413 667709 2 50149510 A G 659168 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1414 675103 2 50170729 G C 659254 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1415 801713 2 50201110 A G 790282 Benign Pitt-Hopkins-like_syndrome_2 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1416 667731 2 50463700 G A 659349 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1417 667707 2 50463701 A G 659112 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1418 667711 2 50692459 T A 659118 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1419 667708 2 50699205 C A 659183 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1420 667706 2 50699305 T A 659189 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1421 667704 2 50699758 C T 659194 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1422 667536 2 50699890 T C 659273 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1423 667703 2 50733958 T C 659285 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1424 667702 2 50766007 T A 659287 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1425 670683 2 50780219 T G 659288 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1426 667697 2 50780392 G A 659135 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1427 668651 2 50848056 G GC 659149 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1428 667699 2 51148872 T A 659203 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1429 674918 2 51254538 C G 659212 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1430 93603 2 51254901 G A 99507 Benign History_of_neurodevelopmental_disorder|Pitt-Ho... 0.17402 0.13058 0.21306 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1431 683578 2 55870827 A G 659152 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1432 138739 2 55872538 T C 142442 Benign not_specified|not_provided 0.15711 0.08282 0.14756 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1433 138738 2 55873385 C G 142441 Benign not_specified|not_provided 0.20321 0.12979 0.19848 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1434 683569 2 55874811 C T 659161 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1435 671592 2 55881816 C T 659375 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1436 671591 2 55883713 C A 659246 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1437 671588 2 55889062 G A 659301 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1438 671576 2 55889454 G A 659252 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1439 669542 2 55889466 G A 659169 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1440 683568 2 55894428 G A 659302 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1441 683567 2 55895321 T C 659253 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1442 683564 2 55898929 A G 659395 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1443 671587 2 55899228 A T 659404 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1444 516898 2 55900231 G GA 500091 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1445 683552 2 55910710 T C 659262 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1446 671575 2 55913271 AT A 659184 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1447 257227 2 56098272 G A 250749 Benign Doyne_honeycomb_retinal_dystrophy|not_specified 0.05367 0.05339 0.03774 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1448 257495 2 58388696 A G 250750 Benign Fanconi_anemia|not_specified|not_provided 0.70409 0.64866 0.70647 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1449 336653 2 58388708 C T 287621 Conflicting_interpretations_of_pathogenicity Fanconi_anemia|not_provided . 4e-05 . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1450 257494 2 58431410 G C 250751 Benign not_specified 0.14724 0.12604 0.17672 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1451 127265 2 60720246 C T 132722 Benign Fetal_hemoglobin_quantitative_trait_locus_5|In... . . 0.48323 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1452 336670 2 61275771 C G 287662 Conflicting_interpretations_of_pathogenicity Peroxisome_biogenesis_disorder_11A|Peroxisome_... 0.02745 0.02407 0.01138 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1453 336677 2 61276263 G A 287682 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.99521 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1454 336685 2 61276857 C T 290432 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.30391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1455 336687 2 61277099 G A 286893 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.07628 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1456 336699 2 61278052 A G 290089 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.61601 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1457 336715 2 62052380 A G 290453 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.39734 0.47644 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1458 336727 2 62053290 A G 290460 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.39968 0.47604 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1459 96217 2 62066927 A G 102111 Benign Retinitis_pigmentosa_28|not_specified|Retiniti... 0.97983 0.97589 0.97963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1460 336744 2 62069358 T C 287722 Likely_benign Retinitis_Pigmentosa,_Recessive 0.16808 0.18292 0.16014 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1461 193466 2 62081012 A C 190630 Benign not_specified 0.97971 0.97594 0.97943 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1462 336747 2 62081217 A G 290124 Benign Retinitis_Pigmentosa,_Recessive 0.98149 0.9746 0.97943 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1463 336760 2 63380675 C A 290503 Uncertain_significance Bardet-Biedl_syndrome 0.00017 0.00015 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1464 95744 2 63486429 C T 101641 Benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.6229 0.60528 0.76378 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1465 193387 2 63815393 A G 190551 Uncertain_significance not_provided . 0.00039 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1466 156571 2 68445313 ATTAAT A 166380 not_provided not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1467 336784 2 69547236 G C 290135 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.65535 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1468 336790 2 69547919 C CA 286996 Uncertain_significance Congenital_Myasthenic_Syndrome,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1469 336797 2 69548320 C T 290546 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.65875 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1470 336799 2 69548495 T G 287017 Likely_benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.10443 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1471 336801 2 69548591 C T 290139 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.63858 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1472 336807 2 69549262 T C 287799 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.64756 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1473 336818 2 69550036 T C 290161 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.65875 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1474 336821 2 69550230 T G 290554 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.64756 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1475 336823 2 69550256 C T 290555 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.66354 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1476 336829 2 69550652 G A 290560 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.63838 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1477 336839 2 69551011 T C 290180 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.63838 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1478 336840 2 69551052 T C 290192 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.64936 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1479 336859 2 69552521 C A 287821 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.63818 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1480 336873 2 69553375 GA G 290634 Uncertain_significance Congenital_Myasthenic_Syndrome,_Recessive . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1481 673466 2 69556144 A C 659425 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1482 681723 2 69565345 T C 659186 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1483 257667 2 69565563 TA T 250761 Benign/Likely_benign not_specified|Congenital_Myasthenic_Syndrome,_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1484 129151 2 69573029 T C 134597 Benign not_specified|Congenital_Myasthenic_Syndrome,_... 0.67541 . 0.64717 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1485 681308 2 69573273 T C 659431 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1486 681306 2 69583422 G A 659190 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1487 681305 2 69583896 A G 659281 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1488 682687 2 69585176 A G 659283 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1489 681304 2 69586293 A C 659432 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1490 258543 2 69586370 A G 250762 Benign not_specified|not_provided 0.30986 . 0.24401 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1491 672059 2 69601502 G A 659331 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1492 682685 2 69613926 T C 659197 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1493 681303 2 69613958 A G 659347 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1494 258544 2 69614161 A G 250765 Benign not_specified|not_provided 0.69197 0.60925 0.65655 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1495 671562 2 69627919 G A 659200 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1496 683210 2 69633382 A T 659216 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1497 683209 2 69642615 G A 659307 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1498 683208 2 69646504 G A 659223 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1499 669524 2 69646950 C T 659308 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1500 673395 2 69650445 T A 659229 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1501 669523 2 69650527 C T 659238 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1502 138516 2 69659126 A T 142219 Benign Multiple_mitochondrial_dysfunctions_syndrome|n... 0.37721 0.39284 0.31709 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1503 669522 2 69659402 T A 659354 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1504 672905 2 69664921 A T 659445 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1505 669521 2 69664976 C T 659244 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1506 336905 2 71004492 TCA CCT 287838 Uncertain_significance Premature_ovarian_failure . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1507 336907 2 71012604 G A 287106 Benign Premature_ovarian_failure 0.67501 0.64793 0.79772 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1508 336909 2 71012734 C G 290660 Benign Premature_ovarian_failure 0.62669 0.62314 0.76298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1509 369346 2 71162996 A G 353575 Benign Renal_tubular_acidosis_with_progressive_nerve_... . . 0.53035 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1510 44228 2 71163086 T C 53395 Benign Renal_tubular_acidosis_with_progressive_nerve_... 0.41504 0.40949 0.36881 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1511 44231 2 71163173 C T 53398 Benign Renal_tubular_acidosis_with_progressive_nerve_... 0.15854 0.18018 0.15855 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1512 44222 2 71190384 C T 53389 Benign Renal_tubular_acidosis_with_progressive_nerve_... 0.3583 0.46902 0.4375 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1513 138182 2 71351487 G A 141885 Benign Methylmalonic_acidemia|not_specified 0.27364 0.30564 0.18251 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1514 668890 2 71730055 G A 659459 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1515 677301 2 71743562 G T 659475 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1516 668122 2 71743640 T C 659332 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1517 679370 2 71747235 A G 659484 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1518 679411 2 71747432 G T 659333 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1519 679412 2 71747568 G T 659385 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1520 679413 2 71747723 C G 659260 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1521 679414 2 71747851 T C 659264 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1522 94368 2 71747899 G A 100268 Benign not_specified 0.49608 0.47554 0.36781 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1523 259065 2 71755380 A G 250776 Benign not_specified|not_provided 0.84669 0.74658 0.65635 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1524 94268 2 71762232 C T 100168 Benign not_specified|Miyoshi_myopathy|Limb-Girdle_Mus... 0.62894 0.58456 0.45767 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1525 679416 2 71762310 A G 659271 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1526 679418 2 71766487 G A 659391 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1527 679421 2 71779032 G A 659512 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1528 668124 2 71779853 T C 659346 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1529 94281 2 71780215 T C 100181 Benign not_specified|Miyoshi_myopathy|Limb-Girdle_Mus... 0.73489 0.64302 0.57548 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1530 679422 2 71780821 T C 659517 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1531 668895 2 71782764 C G 659300 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1532 94290 2 71795152 A T 100190 Benign not_specified|Miyoshi_myopathy|Limb-Girdle_Mus... 0.71621 0.60416 0.55052 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1533 679423 2 71796865 C G 659352 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1534 679425 2 71797176 A C 659361 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1535 681362 2 71801267 G C 659522 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1536 679986 2 71816602 G C 659309 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1537 679987 2 71817003 A G 659529 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1538 668126 2 71825438 G C 659402 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1539 679992 2 71826102 C T 659382 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1540 668898 2 71827555 C T 659403 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1541 679993 2 71828423 A T 659389 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1542 679994 2 71829821 G T 659393 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1543 94316 2 71838597 C A 100216 Benign not_specified|Miyoshi_myopathy|Limb-Girdle_Mus... 0.47155 0.50146 0.44948 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1544 679995 2 71847943 C A 659396 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1545 679996 2 71871039 A G 659415 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1546 259080 2 71871236 A G 250790 Benign not_specified|not_provided 0.88967 0.85937 0.83826 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1547 668127 2 71889101 A G 659320 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1548 668128 2 71889156 C G 659420 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1549 679998 2 71891236 C T 659426 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1550 259081 2 71891361 C T 250791 Benign not_specified|not_provided 0.81163 0.82018 0.74481 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1551 680001 2 71897075 A G 659428 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1552 259082 2 71901286 C T 250792 Benign not_specified|not_provided 0.78003 0.80685 0.72804 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1553 94346 2 71906171 T C 100246 Benign not_specified 0.92304 0.88508 0.8782 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1554 680008 2 71907930 G T 659435 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1555 383755 2 73613341 G A 367793 Benign not_specified 0.227 . 0.2512 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1556 383767 2 73650122 T A 366927 Benign not_specified 0.50278 0.60331 0.53275 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1557 383753 2 73651967 C T 367798 Benign not_specified|not_provided 0.39451 . 0.36362 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1558 504918 2 73675669 T G 496235 Benign not_specified|not_provided 0.88057 0.86273 0.8722 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1559 383768 2 73675844 C T 366940 Benign Alstrom_syndrome|not_specified|not_provided 0.49481 0.59909 0.52636 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1560 383757 2 73677833 A G 366999 Benign not_specified|not_provided 0.37194 0.26088 0.33826 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1561 379229 2 73677898 G C 366959 Benign not_specified|not_provided 0.39457 0.26813 0.36362 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1562 383758 2 73679280 A G 366730 Benign not_specified|not_provided 0.39125 0.26759 0.35883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1563 383769 2 73679866 T C 367864 Benign not_specified|not_provided 0.14038 0.14322 0.10363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1564 383759 2 73679990 T A 367014 Benign not_specified|not_provided 0.39536 0.2699 0.36382 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1565 383760 2 73680508 G C 367891 Benign Alstrom_syndrome|not_specified|not_provided 0.39545 . 0.36442 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1566 383761 2 73717567 G T 366982 Benign not_specified|not_provided 0.39 0.26628 0.35823 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1567 383762 2 73717656 A G 366756 Benign not_specified|not_provided 0.39136 0.26613 0.35823 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1568 683047 2 73746643 T C 659450 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1569 383763 2 73746923 C T 366758 Benign not_specified|not_provided 0.30375 0.21691 0.25679 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1570 677826 2 73761881 G A 659586 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1571 677827 2 73762236 A G 659590 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1572 669780 2 73762385 G A 659453 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1573 393379 2 73777400 A G 380199 Benign Monogenic_diabetes|not_specified|not_provided 0.00315 0.00597 0.00719 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1574 383770 2 73828310 T C 367006 Benign not_specified 0.51501 0.62443 0.55292 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1575 383764 2 73828538 G A 367925 Benign not_specified|not_provided 0.53661 0.63338 0.58227 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1576 383765 2 73829372 C T 367049 Benign not_specified|not_provided 0.39359 0.26358 0.34165 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1577 677830 2 73829678 C T 659337 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1578 337039 2 73837006 T A 287232 Likely_benign Alstrom_syndrome . . 0.10523 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1579 160040 2 74087290 T C 168077 Likely_benign not_specified 0.22913 0.17761 0.15855 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1580 160041 2 74087298 A G 168078 Likely_benign not_specified 0.08327 0.08837 0.15955 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1581 679277 2 74165856 G A 659468 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1582 679278 2 74173656 A C 659351 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1583 679279 2 74178080 T C 659474 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1584 683414 2 74369151 A T 659357 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1585 683413 2 74371995 G A 659479 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1586 683410 2 74372678 A C 659486 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1587 683407 2 74374641 C T 659365 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1588 95359 2 74692191 C T 101258 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.0416 0.05642 0.01737 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1589 337133 2 74758151 T C 290711 Uncertain_significance Parkinson_Disease,_Dominant . 1e-05 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1590 337149 2 84650707 A G 290971 Benign Mitochondrial_DNA_depletion_syndrome|Mitochond... . . 0.80212 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1591 684111 2 84660240 G A 659367 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1592 684110 2 84667864 C T 659624 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1593 684109 2 84677140 A G 659503 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1594 669574 2 84686757 A G 659373 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1595 402731 2 84756049 G A 389523 Benign not_specified 0.92357 0.94875 0.94469 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1596 402732 2 84771480 G A 389519 Benign not_specified 0.91126 0.94393 0.92951 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1597 402733 2 84771567 C T 389526 Benign not_specified 0.80929 0.88362 0.81669 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1598 402734 2 84800605 C A 389530 Benign not_specified 0.90881 0.94655 0.92971 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1599 402738 2 84880445 G C 389544 Benign not_specified 0.11569 0.16296 0.09924 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1600 402740 2 84897517 A G 389532 Benign not_specified 0.96252 0.97327 0.98223 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1601 402742 2 84924823 T C 389535 Benign not_specified 0.15396 0.14771 0.11681 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1602 402745 2 85023554 A G 389533 Benign not_specified 0.21529 0.18716 0.21206 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1603 402746 2 85024731 C T 389548 Benign not_specified 0.11892 0.114 0.10423 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1604 508141 2 85617327 C T 499965 Benign not_specified 0.06066 0.04874 0.04273 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1605 508142 2 85617579 C T 500383 Benign not_specified 0.06066 0.049 0.04273 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1606 674848 2 85766545 C T 659381 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1607 674698 2 85769246 G A 659638 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1608 381190 2 85769711 C G 367044 Benign not_specified 0.53306 0.4529 0.49281 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1609 674849 2 85769975 A G 659516 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1610 337176 2 85772478 C T 288088 Uncertain_significance Vitamin_K-Dependent_Clotting_Factors . . 0.01078 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1611 337179 2 85772548 C T 287342 Benign Vitamin_K-Dependent_Clotting_Factors . . 0.49361 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1612 337185 2 85773061 A G 291027 Benign Vitamin_K-Dependent_Clotting_Factors . . 0.53015 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1613 337190 2 85773252 T C 290804 Benign Vitamin_K-Dependent_Clotting_Factors . . 0.10763 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1614 337198 2 85773539 T TAA 287354 Uncertain_significance Vitamin_K-Dependent_Clotting_Factors . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1615 337203 2 85773654 C CTG 290806 Benign Vitamin_K-Dependent_Clotting_Factors . . 0.51018 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1616 337204 2 85773659 A G 288100 Benign Vitamin_K-Dependent_Clotting_Factors . . 0.28594 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1617 337217 2 85774676 G A 288159 Benign Vitamin_K-Dependent_Clotting_Factors . . 0.49361 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1618 337238 2 85776276 T G 291057 Uncertain_significance Vitamin_K-Dependent_Clotting_Factors . . 0.00759 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1619 337243 2 85776490 C CTTTA 291059 Benign Vitamin_K-Dependent_Clotting_Factors . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1620 337266 2 85780131 G A 291091 Benign Vitamin_K-Dependent_Clotting_Factors 0.30255 0.26606 0.28594 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1621 337268 2 85780536 C T 291110 Benign Vitamin_K-Dependent_Clotting_Factors 0.41919 0.31979 0.3778 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1622 337275 2 85786074 G A 290862 Likely_benign Vitamin_K-Dependent_Clotting_Factors 0.05005 0.03149 0.03994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1623 263205 2 85890771 T G 250817 Benign not_specified 0.9362 0.93652 0.97484 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1624 165204 2 85893741 G A 173673 Benign not_specified|Pulmonary_Surfactant_Metabolism_... 0.59888 0.50372 0.51997 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1625 165206 2 85894308 G T 173674 Benign not_specified|Pulmonary_Surfactant_Metabolism_... 0.28287 0.3553 0.29693 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1626 165208 2 85895338 T G 173675 Benign not_specified|Pulmonary_Surfactant_Metabolism_... 0.3511 0.42543 0.41853 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1627 130382 2 86088311 T C 135829 Benign Salt_and_pepper_developmental_regression_syndr... 0.15677 0.22251 0.20907 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1628 337344 2 86441303 A C 288254 Benign Spastic_paraplegia,_autosomal_dominant . . 0.3736 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1629 337345 2 86441334 C CTGTT 287482 Benign Spastic_paraplegia,_autosomal_dominant . . 0.373 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1630 669113 2 86478869 A C 659639 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1631 130108 2 86481835 C T 135554 Benign Spastic_paraplegia_31,_autosomal_dominant|not_... 0.37183 0.46734 0.42871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1632 669110 2 86509079 T C 659438 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1633 128986 2 88874891 C A 134433 Benign Wolcott-Rallison_dysplasia|not_specified 0.80171 0.70206 0.72065 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1634 128984 2 88882942 T A 134431 Benign Wolcott-Rallison_dysplasia|not_specified 0.23942 0.25415 0.20427 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1635 128988 2 88895123 T C 134435 Benign Wolcott-Rallison_dysplasia|not_specified 0.73474 0.63792 0.64896 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1636 128987 2 88913273 G C 134434 Benign Wolcott-Rallison_dysplasia|not_specified 0.19837 0.29828 0.28055 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1637 337424 2 88926964 G A 291074 Likely_benign Wolcott-Rallison_dysplasia . . 0.01577 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1638 337440 2 89050126 T G 288313 Benign Deficiency_of_ribose-5-phosphate_isomerase . . 0.1895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1639 337472 2 96917588 T G 291107 Benign Pheochromocytoma . . 0.61641 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1640 677140 2 96931846 T C 659408 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1641 337536 2 96944553 G A 291176 Likely_benign Retinitis_Pigmentosa,_Dominant 0.25196 0.30971 0.24601 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1642 337548 2 96952833 A G 291356 Likely_benign Retinitis_Pigmentosa,_Dominant 0.23566 0.31901 0.28414 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1643 337642 2 98356250 G C 291334 Benign Severe_Combined_Immune_Deficiency . . 0.14876 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1644 48327 2 105979730 C A 57489 Benign not_specified 0.3117 . 0.27736 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1645 261428 2 108608648 A G 250078 Benign not_specified 0.06351 0.08416 0.07608 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1646 261429 2 108618514 C T 250079 Benign not_specified 0.1251 0.1128 0.14417 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1647 380029 2 109374952 A G 365325 Benign not_specified|not_provided 0.30829 0.2604 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1648 330683 2 109510937 G A 283642 Benign Hypohidrotic_Ectodermal_Dysplasia,_Dominant . . 0.53175 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1649 330688 2 109511765 A G 283656 Benign Hypohidrotic_Ectodermal_Dysplasia,_Dominant . . 0.66993 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1650 330694 2 109512234 T C 283660 Benign Hypohidrotic_Ectodermal_Dysplasia,_Dominant . . 0.72085 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1651 155862 2 109513321 C A 165611 Benign Hypohidrotic_Ectodermal_Dysplasia,_Dominant|no... 0.85897 0.90665 0.88299 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1652 155865 2 109513654 G A 165614 Benign not_specified|Hypohidrotic_Ectodermal_Dysplasi... 0.69929 0.81027 0.71186 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1653 155864 2 109522720 G A 165613 Uncertain_significance not_provided 0.68276 0.79503 0.67432 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1654 155870 2 109526969 G A 165619 Benign not_specified|Hypohidrotic_Ectodermal_Dysplasi... 0.89628 0.91697 0.92133 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1655 155869 2 109527087 G A 165618 Uncertain_significance not_provided . . 0.66554 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1656 155867 2 109527373 A G 165616 Uncertain_significance not_provided 0.90558 0.91901 0.92752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1657 255705 2 110919321 C T 250088 Benign not_specified 0.28099 0.36133 0.378 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1658 92719 2 110922703 C T 98626 Benign Nephronophthisis|Joubert_syndrome|Renal_dyspla... 0.37883 0.37931 0.47444 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1659 330746 2 112705157 T C 283717 Likely_benign Retinitis_Pigmentosa,_Recessive 0.58465 0.58446 0.51478 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1660 330754 2 112751928 G A 281580 Likely_benign Retinitis_Pigmentosa,_Recessive 0.63402 0.59717 0.5615 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1661 330759 2 112755001 A G 282252 Likely_benign Retinitis_Pigmentosa,_Recessive 0.63394 0.59732 0.5615 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1662 330762 2 112765973 A G 281586 Likely_benign Retinitis_Pigmentosa,_Recessive 0.58781 0.58245 0.51518 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1663 330766 2 112776979 C A 282254 Likely_benign Retinitis_Pigmentosa,_Recessive 0.29994 . 0.29693 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1664 330770 2 112786523 A AT 283784 Likely_benign Retinitis_Pigmentosa,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1665 770130 2 113258916 C T 696975 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1666 14671 2 113594387 G A 29710 risk_factor Gastric_cancer_susceptibility_after_h._pylori_... . . 0.47244 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1667 767816 2 113671410 A G 696980 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1668 330783 2 113820476 T C 283604 Benign Pustular_psoriasis,_generalized . . 0.71526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1669 330784 2 113820530 A G 283793 Benign Pustular_psoriasis,_generalized . . 0.71546 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1670 330787 2 113820580 C A 283612 Benign Pustular_psoriasis,_generalized . . 0.71546 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1671 330789 2 113820655 A T 282259 Benign Pustular_psoriasis,_generalized . . 0.71506 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1672 330790 2 113820672 A G 283794 Benign Pustular_psoriasis,_generalized . . 0.71506 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1673 330791 2 113820732 T C 282260 Benign Pustular_psoriasis,_generalized . . 0.71526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1674 330792 2 113820814 C G 283621 Benign Pustular_psoriasis,_generalized . . 0.71526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1675 330796 2 113821117 C T 283623 Benign Pustular_psoriasis,_generalized . . 0.86981 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1676 330798 2 113821200 T C 281597 Benign Pustular_psoriasis,_generalized . . 0.71526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1677 330802 2 113821653 T C 281598 Benign Pustular_psoriasis,_generalized . . 0.71526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1678 537717 2 113887483 C T 516358 Benign not_provided . . 0.25459 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1679 330827 2 113890304 T C 283875 Benign Osteomyelitis,_sterile_multifocal,_with_perios... 0.33315 . 0.35004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1680 330832 2 113890586 C G 281620 Benign Osteomyelitis,_sterile_multifocal,_with_perios... . . 0.35503 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1681 330853 2 113973632 G A 281649 Likely_benign Congenital_hypothyroidism . . 0.45567 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1682 330858 2 113973801 T C 281655 Benign Congenital_hypothyroidism . . 0.79433 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1683 330861 2 113973964 T C 283928 Likely_benign Congenital_hypothyroidism . . 0.45427 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1684 330864 2 113974196 G C 282309 Likely_benign Congenital_hypothyroidism . . 0.32488 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1685 330882 2 113975923 T C 283980 Uncertain_significance Congenital_hypothyroidism . . 0.02716 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1686 767819 2 120194651 A AGTGTGC 696990 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1687 801743 2 121684663 C G 790036 Benign Holoprosencephaly_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1688 439758 2 121709091 G A 433591 Benign not_specified . . 0.9387 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1689 259731 2 121713022 C G 250113 Benign not_specified . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1690 259732 2 121713030 G A 250114 Benign not_specified 0.75413 0.92342 0.78594 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1691 259733 2 121713041 T C 250115 Benign not_specified 0.75577 0.92023 0.78594 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1692 259736 2 121726447 G A 250118 Benign Holoprosencephaly_sequence|not_specified 0.80924 0.94007 0.82728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1693 259709 2 121729490 C T 250121 Benign not_specified 0.86945 0.9558 0.8766 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1694 259710 2 121729686 T C 250122 Benign not_specified 0.86975 0.95722 0.877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1695 259716 2 121740493 G A 250127 Likely_benign not_specified 0.01238 . 0.00539 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1696 259717 2 121740505 C T 250128 Benign not_specified 0.7718 0.90775 0.77975 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1697 259725 2 121744225 A G 250136 Benign not_specified 0.62981 0.64099 0.51957 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1698 95271 2 121746956 G T 101170 Benign Holoprosencephaly_sequence|not_specified 0.62341 0.6296 0.50899 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1699 95272 2 121747406 G A 101171 Benign Holoprosencephaly_sequence|not_specified 0.67687 0.64635 0.56709 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1700 95273 2 121747429 A G 101172 Benign Holoprosencephaly_sequence|not_specified 0.62408 0.63438 0.51238 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1701 331006 2 121749067 G C 282392 Benign Holoprosencephaly_sequence . . 0.50779 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1702 678269 2 127808226 A T 658064 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1703 678268 2 127808532 G A 658033 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1704 678267 2 127808909 G A 658044 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1705 668877 2 127810697 C T 658180 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1706 678266 2 127811042 G A 658049 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1707 678252 2 127811712 G GCA 658051 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1708 678251 2 127818021 C T 658090 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1709 158019 2 127819777 C T 167866 Benign/Likely_benign Autosomal_recessive_centronuclear_myopathy|not... 0.10551 0.158 0.09724 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1710 678250 2 127821085 C T 658219 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1711 678249 2 127821453 G A 658105 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1712 158017 2 127821499 T C 167864 Benign/Likely_benign Autosomal_recessive_centronuclear_myopathy|not... 0.28718 0.37037 0.34525 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1713 678248 2 127821839 G C 658221 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1714 678247 2 127825968 G A 658224 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1715 678246 2 127826259 A G 658056 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1716 678128 2 127826632 A G 658106 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1717 678127 2 127833963 C T 658110 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1718 678126 2 127834136 T C 658058 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1719 680092 2 127834369 C T 658230 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1720 678125 2 127834384 T C 658231 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1721 678124 2 127834459 T C 658067 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1722 678123 2 127834528 C T 658233 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1723 668023 2 127834580 G C 658202 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1724 255808 2 128176040 A T 250153 Benign/Likely_benign Thrombophilia,_hereditary,_due_to_protein_C_de... . 0.45137 0.39317 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1725 255809 2 128180872 G T 250154 Benign/Likely_benign Thrombophilia,_hereditary,_due_to_protein_C_de... 0.72231 0.6343 0.64577 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1726 255810 2 128184770 T C 250155 Benign/Likely_benign Thrombophilia,_hereditary,_due_to_protein_C_de... 0.32408 0.28278 0.22983 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1727 260987 2 128400608 C T 250158 Benign not_specified 0.5064 0.60344 0.54513 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1728 475544 2 128415109 G A 448571 Benign not_provided 0.00161 . 0.0012 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1729 130064 2 135893372 A G 135510 Benign Warburg_micro_syndrome_1|Warburg_micro_syndrom... 0.11241 . 0.21446 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1730 130067 2 135911422 T C 135513 Benign Warburg_micro_syndrome_1|Warburg_micro_syndrom... 0.4907 0.51736 0.78674 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1731 331154 2 136545448 AAC A 281844 Likely_benign Lactose_intolerance|Congenital_lactase_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1732 331159 2 136545844 C G 281846 Benign Lactose_intolerance|Congenital_lactase_deficiency 0.78787 0.7967 0.73962 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1733 331164 2 136546110 A G 284145 Benign Lactose_intolerance|Congenital_lactase_deficiency 0.63048 0.62146 0.44149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1734 331168 2 136555659 T C 282507 Benign Lactose_intolerance|Congenital_lactase_deficiency 0.61772 0.60581 0.44269 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1735 331172 2 136561557 G A 281859 Benign Lactose_intolerance|Congenital_lactase_deficiency 0.6956 0.7532 0.66014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1736 331201 2 136575157 C T 281883 Uncertain_significance Lactose_intolerance|Congenital_lactase_deficiency 0.00069 0.00063 0.0004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1737 331202 2 136575199 G T 284166 Benign Lactose_intolerance|Congenital_lactase_deficiency 0.54114 0.55588 0.35603 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1738 331204 2 136575534 T C 282521 Benign Lactose_intolerance|Congenital_lactase_deficiency 0.9784 0.99435 0.97923 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1739 331207 2 136590746 C T 281884 Benign Lactose_intolerance|Congenital_lactase_deficiency 0.27026 . 0.35503 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1740 331210 2 136594158 G A 281889 Benign Lactose_intolerance|Congenital_lactase_deficiency 0.54229 0.54873 0.34844 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1741 7685 2 136608646 G A 22724 association Lactase_persistence . . 0.16134 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1742 7686 2 136616754 C T 22725 association Lactase_persistence . . 0.16334 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1743 331272 2 145145034 A G 284502 Benign Mowat-Wilson_syndrome . . 0.99581 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1744 670342 2 145155731 T C 658232 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1745 672368 2 145161902 A G 658234 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1746 670341 2 145161936 T G 658237 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1747 159483 2 148716428 T C 168039 Benign Meier-Gorlin_syndrome_2|not_specified 0.31145 . 0.35583 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1748 683131 2 149216661 A G 658139 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1749 331350 2 149270710 A G 284330 Likely_benign Intellectual_Disability,_Dominant . . 0.44908 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1750 682897 2 149835264 G A 658120 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1751 669391 2 149855325 A G 658152 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1752 670017 2 149857599 T C 658268 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1753 683976 2 149862261 A G 658134 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1754 331373 2 150426362 T C 282037 Benign Methylmalonic_acidemia|Disorders_of_Intracellu... . . 0.55312 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1755 331374 2 150426399 A G 282047 Benign Methylmalonic_acidemia|Disorders_of_Intracellu... . . 0.99601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1756 285847 2 150432256 A G 270084 Conflicting_interpretations_of_pathogenicity Methylmalonic_acidemia|Disorders_of_Intracellu... 0.00092 0.00207 0.0006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1757 260678 2 150432377 C G 250172 Likely_benign not_specified 0.62258 0.75397 0.6216 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1758 682622 2 150432690 T A 658271 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1759 203836 2 150432976 C T 199984 Benign Methylmalonic_acidemia|Methylmalonic_acidemia_... 0.77395 0.86807 0.75959 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1760 95126 2 152346979 T C 101026 Benign not_specified|Nemaline_Myopathy,_Recessive|not... 0.41879 0.41358 0.33427 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1761 257804 2 152348842 T A 250179 Benign not_specified 0.2653 0.29929 0.20168 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1762 95122 2 152349026 G A 101022 Benign not_specified|not_provided 0.64185 0.66238 0.63838 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1763 95120 2 152352843 C G 101020 Benign not_specified|Nemaline_Myopathy,_Recessive|not... 0.6288 0.64994 0.6278 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1764 257792 2 152374800 G A 250189 Benign not_specified 0.59239 0.58954 0.53594 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1765 95116 2 152382454 C G 101016 Benign not_specified|not_provided 0.59528 . 0.54573 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1766 95114 2 152387553 T C 101014 Benign not_specified|Nemaline_Myopathy,_Recessive|not... 0.55387 0.58301 0.49161 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1767 95112 2 152388415 AT A 101012 Benign not_specified|Nemaline_Myopathy,_Recessive|not... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1768 257786 2 152394534 T G 250194 Benign not_specified 0.5598 0.5837 0.4988 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1769 257783 2 152404294 C T 250198 Benign not_specified 0.62039 0.64022 0.624 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1770 95109 2 152422076 C G 101009 Benign not_specified|Nemaline_Myopathy,_Recessive|not... 0.64977 0.6707 0.65316 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1771 331463 2 152424933 T TA 284405 Benign Nemaline_myopathy_2|Nemaline_Myopathy,_Recessi... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1772 257766 2 152435840 C G 250212 Benign not_specified . 0 0.30751 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1773 257720 2 152475938 T G 250255 Benign not_specified 0.31596 . 0.2488 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1774 95102 2 152476028 C G 101002 Benign Nemaline_myopathy_2|not_specified|Nemaline_Myo... 0.26874 0.28911 0.21985 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1775 226848 2 152490219 A G 228541 Benign not_specified|not_provided 0.59877 . 0.626 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1776 226847 2 152490458 A G 228542 Benign not_specified|not_provided 0.97569 0.99282 0.97205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1777 95131 2 152527572 C T 101031 Benign not_specified|Nemaline_Myopathy,_Recessive|not... 0.66146 0.73856 0.53315 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1778 167336 2 152531077 A G 177860 Benign not_specified 0.81778 0.82649 0.71605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1779 95128 2 152536498 T A 101028 Benign not_specified|Nemaline_Myopathy,_Recessive|not... 0.69857 0.74994 0.58347 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1780 257767 2 152552062 A C 250296 Benign not_specified 0.62921 . 0.4988 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1781 257832 2 152573902 A AGGC 250301 Benign not_specified . 0.74542 0.56929 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1782 95136 2 152573981 A G 101036 Benign Nemaline_myopathy_2|not_specified|Nemaline_Myo... 0.68611 0.74375 0.56929 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1783 331558 2 152690248 G A 282210 Benign Episodic_ataxia|Juvenile_myoclonic_epilepsy . . 0.8784 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1784 331574 2 152691829 C G 284875 Benign Episodic_ataxia|Juvenile_myoclonic_epilepsy . . 0.46026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1785 331610 2 152694448 A G 282946 Benign Episodic_ataxia|Juvenile_myoclonic_epilepsy . . 0.10543 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1786 331614 2 152694743 C G 284493 Benign Episodic_ataxia|Juvenile_myoclonic_epilepsy . . 0.03914 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1787 331619 2 152695008 AT A 282291 Benign Episodic_ataxia|Juvenile_myoclonic_epilepsy . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1788 331624 2 152695178 GT G 282984 Uncertain_significance Episodic_ataxia|Juvenile_myoclonic_epilepsy . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1789 331653 2 157181836 CTG C 284954 Benign Parkinson_Disease,_Dominant/Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1790 331655 2 157181925 A C 283004 Benign Parkinson_Disease,_Dominant/Recessive . . 0.28634 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1791 331685 2 158593905 C T 282340 Benign Progressive_myositis_ossificans . . 0.08207 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1792 257466 2 158626980 C T 250303 Benign Progressive_myositis_ossificans|not_specified 0.9115 0.96419 0.91394 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1793 257464 2 158636910 G A 250304 Benign Progressive_myositis_ossificans|not_specified 0.60472 0.75017 0.65096 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1794 218475 2 160958349 GA G 215223 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1795 587787 2 162280748 G A 578942 Benign History_of_neurodevelopmental_disorder 0.78646 0.82305 0.75859 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1796 261566 2 163124051 C T 250306 Benign not_specified 0.4614 0.50471 0.35663 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1797 261565 2 163128824 T C 250307 Benign Singleton-Merten_syndrome_1|not_specified 0.6916 0.67622 0.58986 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1798 167650 2 165987772 T G 178049 Benign not_specified 0.16292 . 0.18171 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1799 586501 2 165996107 T A 576575 Benign not_provided 0.50292 0.50676 0.63458 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1800 95445 2 166003479 G A 101344 Benign not_specified 0.22528 0.22148 0.25739 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1801 684237 2 166164887 G A 658142 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1802 669359 2 166166672 C T 658184 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1803 670843 2 166170073 A G 658190 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1804 130216 2 166170127 T C 135663 Benign Benign_familial_neonatal-infantile_seizures|Hi... 0.82869 0.80165 0.77236 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1805 684238 2 166179357 C A 658151 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1806 261400 2 166179650 C T 250321 Benign not_specified 0.59625 0.5205 0.5028 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1807 684239 2 166180347 T A 658197 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1808 669320 2 166183214 G T 658154 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1809 684240 2 166187534 T C 658157 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1810 669322 2 166187635 T G 658329 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1811 684241 2 166199284 T A 658332 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1812 669328 2 166224047 G A 658225 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1813 669329 2 166224105 A C 658228 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1814 684243 2 166224175 G C 658279 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1815 684247 2 166226358 G C 658175 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1816 669330 2 166226978 A G 658290 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1817 684249 2 166227107 A G 658245 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1818 684250 2 166229396 A G 658336 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1819 669360 2 166229509 C T 658250 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1820 670621 2 166229930 T A 658177 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1821 669361 2 166231634 A G 658182 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1822 669332 2 166236870 TG T 658312 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1823 668723 2 166238034 T C 658317 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1824 331756 2 166248047 G A 283078 Benign Benign_familial_neonatal-infantile_seizures|Ea... . . 0.38339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1825 331778 2 166605010 A T 282414 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial . . 0.32528 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1826 331801 2 166730387 T C 282447 Likely_benign Joubert_syndrome|Jeune_thoracic_dystrophy . . 0.09105 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1827 671929 2 166747785 A G 658189 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1828 667577 2 166768263 T C 658195 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1829 130652 2 166770120 A G 136098 Benign Joubert_syndrome|Jeune_thoracic_dystrophy|not_... 0.34753 0.33023 0.27736 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1830 667576 2 166771381 T C 658198 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1831 674966 2 166771663 C T 658201 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1832 130650 2 166773971 G A 136096 Benign Joubert_syndrome|Jeune_thoracic_dystrophy|not_... 0.36127 0.33312 0.29173 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1833 674965 2 166781242 T TA 658263 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1834 670824 2 166786530 A ATTTTAT 658278 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1835 130660 2 166788336 T C 136106 Benign Joubert_syndrome|Jeune_thoracic_dystrophy|not_... 0.94572 0.98526 0.94808 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1836 670255 2 166801882 T G 658209 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1837 331873 2 166847034 T C 285246 Benign Epilepsy|Familial_hemiplegic_migraine . . 0.9972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1838 669358 2 166892346 A G 658226 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1839 36753 2 166892788 C T 45414 Benign Epilepsy|Familial_hemiplegic_migraine|History_... 0.72321 0.72521 0.78854 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1840 487362 2 166893081 G A 480426 Benign Generalized_epilepsy_with_febrile_seizures_plu... 0.73242 0.7222 0.78874 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1841 670620 2 166894230 T C 658377 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1842 669303 2 166895725 T C 658379 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1843 674941 2 166895819 A G 658311 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1844 669301 2 166896287 T G 658249 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1845 684229 2 166896362 G A 658313 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1846 36752 2 166897864 A G 45413 Benign Epilepsy|Familial_hemiplegic_migraine|Generali... 0.72336 . 0.78894 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1847 331890 2 166897989 G GA 282540 Benign Epilepsy|Familial_hemiplegic_migraine . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1848 670842 2 166898017 G T 658253 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1849 669300 2 166899102 T A 658257 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1850 684225 2 166899878 G A 658343 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1851 670599 2 166900606 A C 658382 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1852 684217 2 166902103 A T 658324 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1853 670598 2 166903228 C T 658334 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1854 36751 2 166903445 T C 45412 Benign Epilepsy|Familial_hemiplegic_migraine|Generali... 0.63963 0.70339 0.70927 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1855 669299 2 166903660 T C 658335 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1856 684216 2 166903756 C A 658258 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1857 674940 2 166904025 G A 658349 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1858 670841 2 166904062 G T 658350 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1859 670597 2 166904346 G A 658337 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1860 496114 2 166905375 A G 486945 Benign not_provided 0.47667 0.52482 0.498 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1861 378510 2 166905480 G A 365909 Benign not_specified 0.63957 . 0.70907 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1862 674939 2 166905572 T A 658351 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1863 684215 2 166907971 C T 658397 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1864 684214 2 166909104 C T 658354 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1865 12897 2 166909544 C T 27936 drug_response Febrile_seizures,_familial,_3a|carbamazepine_r... . . 0.49341 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1866 674938 2 166909559 C A 658360 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1867 669297 2 166909695 A G 658277 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1868 668972 2 166911586 T C 658358 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1869 669296 2 166912757 C T 658369 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1870 669295 2 166914895 A G 658359 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1871 669294 2 166915335 C A 658364 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1872 331903 2 167052328 A G 283192 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.08846 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1873 331907 2 167052542 C T 284812 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.42232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1874 331908 2 167052555 CTTAAAAAAGTT C 282565 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1875 331913 2 167052885 T A 283202 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.03235 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1876 331921 2 167053036 C G 284821 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.04673 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1877 331925 2 167053386 G A 282571 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.08367 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1878 331926 2 167053408 C T 283209 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.03235 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1879 331936 2 167054063 T TTG 285321 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.08846 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1880 331938 2 167054169 G A 283243 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.08347 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1881 331944 2 167054409 C CTT 284837 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . 0.04673 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1882 331948 2 167054765 C CA 285329 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1883 331950 2 167054934 G GAATC 282582 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1884 130270 2 167056337 C A 135717 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... 0.07204 0.06198 0.03195 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1885 258888 2 167060449 A T 250346 Benign not_specified 0.88696 0.88503 0.90136 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1886 167657 2 167060980 GAAAC G 178055 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1887 130266 2 167089976 T C 135713 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... 0.07369 0.0737 0.03215 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1888 440255 2 167099158 A G 433906 Benign not_specified 0.87745 0.86926 0.88718 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1889 167659 2 167137119 G A 178056 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... 0.56163 0.52735 0.54573 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1890 21344 2 167141109 G T 34196 Benign/Likely_benign Primary_erythromelalgia|Generalized_epilepsy_w... 0.02135 0.02403 0.01238 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1891 130257 2 167144974 A T 135704 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... 0.56237 0.49441 0.54673 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1892 130256 2 167144995 T C 135703 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... 0.38657 0.37304 0.35443 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1893 130254 2 167145142 A G 135701 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... 0.38516 0.374 0.35443 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1894 130269 2 167163043 T C 135716 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... 0.71297 . 0.64117 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1895 130259 2 167168093 C T 135706 Benign Congenital_Indifference_to_Pain|Paroxysmal_ext... 0.67691 0.5874 0.57428 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1896 781822 2 167298093 A G 707826 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1897 332013 2 169779712 T C 285408 Benign Progressive_familial_intrahepatic_cholestasis . . 0.50719 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1898 332014 2 169779764 C T 282611 Benign Progressive_familial_intrahepatic_cholestasis . . 0.50679 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1899 332018 2 169779896 T C 283364 Benign Progressive_familial_intrahepatic_cholestasis . . 0.72923 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1900 259152 2 169789016 T C 250356 Benign Progressive_familial_intrahepatic_cholestasis|... 0.4546 0.5557 0.49681 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1901 259148 2 169801488 A G 250359 Benign not_specified 0.75235 0.76633 0.85523 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1902 259147 2 169814655 G T 250360 Benign not_specified 0.45057 0.53985 0.4976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1903 194214 2 169830328 A G 191377 Benign Progressive_familial_intrahepatic_cholestasis|... 0.59578 0.57943 0.58866 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1904 259158 2 169842809 T C 250364 Benign Progressive_familial_intrahepatic_cholestasis|... 0.73957 0.70531 0.77416 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1905 129502 2 169997051 G A 134948 Benign Donnai_Barrow_syndrome|not_specified 0.60134 0.68389 0.55951 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1906 129501 2 170003432 T G 134947 Benign Donnai_Barrow_syndrome|not_specified 0.60449 0.71764 0.55591 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1907 129500 2 170010985 T C 134946 Benign Donnai_Barrow_syndrome|not_specified 0.80132 0.76213 0.77796 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1908 129493 2 170025083 A G 134939 Benign Donnai_Barrow_syndrome|not_specified 0.15178 0.20262 0.1907 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1909 129526 2 170092395 A G 134972 Benign Donnai_Barrow_syndrome|not_specified 0.37798 0.33374 0.46126 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1910 259418 2 170096018 G A 250376 Benign not_specified 0.34169 0.39328 0.44409 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1911 259416 2 170099446 T G 250378 Benign not_specified 0.5356 0.53831 0.61861 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1912 129519 2 170099473 T C 134965 Benign Donnai_Barrow_syndrome|not_specified 0.50323 0.5231 0.58187 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1913 259414 2 170099895 A C 250380 Benign not_specified 0.55251 . 0.02117 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1914 259413 2 170099899 G A 250381 Benign Donnai_Barrow_syndrome|not_specified 0.53468 0.5373 0.61861 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1915 129516 2 170103336 T C 134962 Benign Donnai_Barrow_syndrome|not_specified 0.53575 0.53848 0.61861 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1916 129515 2 170103351 G T 134961 Benign Donnai_Barrow_syndrome|not_specified 0.40243 0.49208 0.45647 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1917 129510 2 170115588 T C 134956 Benign Donnai_Barrow_syndrome|not_specified 0.54275 0.54644 0.6224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1918 129507 2 170129528 G A 134953 Benign Donnai_Barrow_syndrome|not_specified 0.61502 0.62454 0.60963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1919 129539 2 170147502 C G 134985 Benign/Likely_benign Donnai_Barrow_syndrome|not_specified 0.05536 . 0.04034 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1920 259421 2 170148745 A G 250382 Benign not_specified 0.05374 0.06164 0.03894 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1921 259422 2 170218816 T C 250383 Benign Donnai_Barrow_syndrome|not_specified 0.98853 0.99639 0.98463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1922 129534 2 170218847 C G 134980 Benign Donnai_Barrow_syndrome|not_specified 0.98924 0.99711 0.98463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1923 262633 2 170336024 G C 250384 Benign not_specified 0.89836 0.91069 0.91753 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1924 332221 2 171673475 G A 282779 Benign Cerebral_palsy_spastic_quadriplegic . . 0.17552 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1925 128889 2 172291616 C T 134336 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... 0.27449 0.27232 0.30671 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1926 128892 2 172330393 A G 134339 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... 0.19153 0.22666 0.20667 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1927 128887 2 172336541 C T 134334 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... 0.19045 0.22428 0.20607 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1928 332280 2 172338194 G A 283636 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... . 0.26327 0.20647 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1929 332281 2 172338300 T G 285663 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... . 0.26313 0.20607 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1930 332297 2 172339964 C T 285190 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... . 0.99861 0.97744 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1931 332300 2 172340049 T A 283665 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... . 0.26431 0.20647 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1932 332306 2 172340419 T C 285733 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... . 0.2825 0.27176 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1933 332311 2 172340736 C G 285742 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... . 0.26482 0.20647 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1934 332313 2 172341327 A G 282851 Benign Hypogonadism,_diabetes_mellitus,_alopecia,_men... . 0.26338 0.20647 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1935 332323 2 172640734 C T 285205 Likely_benign Hypomyelination,_global_cerebral . . 0.10144 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1936 332344 2 172693780 G A 285231 Likely_benign Hypomyelination,_global_cerebral|not_provided 0.20483 0.26711 0.26737 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1937 332346 2 172725301 A G 282898 Benign Hypomyelination,_global_cerebral|not_provided 0.8147 0.85671 0.79094 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1938 332352 2 173292379 G A 285786 Likely_benign Epidermolysis_bullosa_junctionalis_with_pylori... . . 0.07009 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1939 332356 2 173292709 A G 285264 Benign Epidermolysis_bullosa_junctionalis_with_pylori... 0.3208 0.35604 0.5006 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1940 332357 2 173292713 C T 285266 Benign Epidermolysis_bullosa_junctionalis_with_pylori... 0.31746 0.34629 0.48902 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1941 332360 2 173339808 G A 285272 Benign Epidermolysis_bullosa_junctionalis_with_pylori... 0.31255 0.28096 0.2516 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1942 332365 2 173344474 A G 283693 Benign Epidermolysis_bullosa_junctionalis_with_pylori... 0.40812 . 0.40715 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1943 332371 2 173352157 A T 283697 Benign Epidermolysis_bullosa_junctionalis_with_pylori... 0.04098 . 0.08706 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1944 332395 2 173369231 A G 282931 Benign Epidermolysis_bullosa_junctionalis_with_pylori... . . 0.63399 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1945 332418 2 173370689 T TA 282948 Likely_benign Epidermolysis_bullosa_junctionalis_with_pylori... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1946 769575 2 175292580 TTCAAATTTATCAG T 697167 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1947 403608 2 175436940 G A 389462 Benign Wiskott-Aldrich_syndrome_2|not_specified 0.923 0.94105 0.90795 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1948 679134 2 175613115 G A 658373 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1949 679133 2 175613169 A C 658384 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1950 679132 2 175613600 T C 658388 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1951 332445 2 175614908 CAA C 283798 Benign Multiple_pterygium_syndrome_Escobar_type|not_s... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1952 257237 2 175622788 G A 250401 Benign not_specified|not_provided 0.99777 0.99933 0.9982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1953 679129 2 175622907 T C 658394 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1954 668089 2 175623763 C T 658395 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1955 257235 2 175624107 GA G 250402 Benign Multiple_pterygium_syndrome_Escobar_type|not_s... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1956 679128 2 175624597 G A 658283 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1957 679127 2 175628847 T C 658284 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1958 680121 2 175629021 C A 658424 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1959 332464 2 175677022 C T 283832 Likely_benign Duane's_syndrome 0.35958 0.43354 0.33686 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1960 193107 2 176957822 G A 190272 Benign not_specified . 0.36828 0.44788 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1961 332506 2 176984454 A T 285895 Benign Vertical_talus,_congenital . . 0.25379 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1962 683748 2 178257214 G A 658401 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1963 683753 2 178301167 T C 658405 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1964 683756 2 178305437 A G 658434 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1965 683770 2 178326952 A G 658436 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1966 683775 2 178358072 C T 658447 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1967 683777 2 178358233 G T 658411 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1968 683779 2 178370040 T C 658412 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1969 332549 2 178404735 T TAAAG 283057 Benign Rhizomelic_chondrodysplasia_punctata . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1970 332583 2 178406481 C T 285569 Benign Rhizomelic_chondrodysplasia_punctata . . 0.69669 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1971 332585 2 178406769 A AT 285580 Benign Rhizomelic_chondrodysplasia_punctata . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1972 332592 2 178407176 C A 283120 Benign Rhizomelic_chondrodysplasia_punctata . . 0.877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1973 332599 2 178407897 T C 283878 Benign Rhizomelic_chondrodysplasia_punctata . . 0.8764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1974 332611 2 179296248 C CACA 286048 Benign Dystonia . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1975 332612 2 179296381 ACAAT A 283881 Benign Dystonia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1976 332613 2 179296511 C T 285621 Uncertain_significance Dystonia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1977 332615 2 179296626 G A 283885 Benign Dystonia . . 0.21486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1978 332618 2 179296666 T C 283886 Uncertain_significance Dystonia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1979 332620 2 179296821 G A 285627 Benign Dystonia 0.20975 0.24498 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1980 469612 2 179296971 G A 449299 Benign not_provided 0.00846 0.00782 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1981 47691 2 179395874 C T 56855 Conflicting_interpretations_of_pathogenicity Cardiomyopathy|Hypertrophic_cardiomyopathy|Dis... 0.00869 0.00888 0.00319 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1982 47452 2 179424558 C T 56616 Benign/Likely_benign Cardiomyopathy|not_specified|Cardiovascular_ph... 0.00861 0.00892 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1983 47367 2 179432185 A G 56532 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.22586 0.23681 0.12999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1984 47293 2 179440029 G A 56458 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.23862 . 0.14657 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1985 47286 2 179440367 C T 56451 Uncertain_significance Limb-girdle_muscular_dystrophy,_type_2J|Dilate... 0.00016 0.00025 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1986 47250 2 179444768 C G 56415 Benign/Likely_benign Cardiomyopathy|Hypertrophic_cardiomyopathy|Dis... 0.99562 0.99863 0.99461 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1987 47218 2 179449131 G A 56383 Benign/Likely_benign Hypertrophic_cardiomyopathy|Limb-girdle_muscul... 0.0317 0.02564 0.01078 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1988 595148 2 179454626 C T 586210 Uncertain_significance not_provided 8e-05 2e-05 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
1989 47120 2 179462494 A G 56285 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.22001 0.23487 0.127 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1990 46886 2 179545859 C T 56051 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.22636 0.23473 0.126 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1991 46859 2 179554305 C T 56024 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.43349 0.39948 0.41334 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1992 46714 2 179585266 C T 55879 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.98141 0.99496 0.98203 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1993 46590 2 179600563 G A 55755 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.98103 0.99488 0.98183 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1994 47743 2 179614952 A G 56907 Benign not_specified 0.97255 0.9926 0.97504 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1995 47736 2 179615887 T C 56900 Benign not_specified 0.81806 0.82709 0.73303 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1996 47735 2 179615931 C G 56899 Benign not_specified 0.97245 0.99261 0.97504 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1997 47733 2 179615994 T C 56897 Benign not_specified 0.97247 0.99256 0.97504 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1998 680821 2 179617567 C T 658475 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
1999 47852 2 179620951 C T 57016 Benign not_specified|not_provided 0.90281 0.8508 0.80451 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2000 137832 2 179621477 C T 141535 Benign not_specified|not_provided 0.99917 0.99969 0.999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2001 46582 2 179623758 C T 55747 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.90235 0.85117 0.80891 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2002 47707 2 179629363 T C 56871 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.97032 0.9921 0.97364 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2003 47692 2 179629461 C T 56856 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.89651 0.85002 0.80491 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2004 47063 2 179642425 G A 56228 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.94649 0.95877 0.91154 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2005 47001 2 179644035 G A 56166 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.95086 0.96058 0.92013 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2006 46973 2 179644855 T C 56138 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.73489 0.69444 0.5002 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2007 680819 2 179645577 C T 658485 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2008 680817 2 179649349 G A 658491 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2009 46774 2 179650701 C T 55939 Benign/Likely_benign Hypertrophic_cardiomyopathy|Distal_myopathy_Ma... 0.336 0.31922 0.20467 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2010 672045 2 179650954 G A 658492 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2011 672044 2 179664050 A G 658662 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2012 671211 2 179667090 C T 658509 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2013 332979 2 182401566 C T 283440 Benign Retinitis_Pigmentosa,_Recessive . 0.99826 0.99141 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2014 332987 2 182402031 C T 286027 Benign Retinitis_Pigmentosa,_Recessive . 0.99824 0.99141 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2015 333001 2 182402790 G A 284119 Benign Retinitis_Pigmentosa,_Recessive . 0.76889 0.76757 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2016 166844 2 182403851 G A 177576 Benign not_specified|Retinitis_Pigmentosa,_Recessive 0.99323 0.99748 0.99121 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2017 257149 2 182413259 A G 250436 Benign not_specified|Retinitis_Pigmentosa,_Recessive 0.59313 0.62394 0.64836 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2018 166846 2 182413602 A T 177577 Benign Retinitis_pigmentosa_26|not_specified 0.59311 0.61807 0.64796 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2019 166848 2 182468818 A T 177578 Benign/Likely_benign Retinitis_pigmentosa_26|not_specified|Retiniti... 0.22663 0.1602 0.27117 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2020 166849 2 182521578 G A 177579 Benign not_specified|Retinitis_Pigmentosa,_Recessive 0.40203 0.52571 0.50739 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2021 801839 2 182543455 T C 790136 Benign Maturity_onset_diabetes_mellitus_in_young . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2022 333042 2 182545218 C T 286090 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.77816 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2023 673782 2 189849773 A G 658588 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2024 670961 2 189855674 T A 658634 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2025 678460 2 189856671 C T 658519 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2026 683360 2 189857336 A G 658693 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2027 199694 2 189859434 CT C 196782 Conflicting_interpretations_of_pathogenicity Ehlers-Danlos_syndrome,_type_4|Thoracic_aortic... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2028 670964 2 189860128 C T 658643 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2029 670965 2 189862203 C T 658541 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2030 672236 2 189864840 C T 658648 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2031 254962 2 189866199 T A 250446 Benign not_specified|not_provided 0.70129 0.75866 0.77636 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2032 674274 2 189867205 G A 658555 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2033 683353 2 189874223 C CA 658663 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2034 226540 2 189875421 T G 228910 Benign Ehlers-Danlos_syndrome,_type_4|Thoracic_aortic... 0.99493 0.99851 0.99661 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2035 672310 2 189899541 T C 658664 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2036 670990 2 189899572 T C 658674 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2037 672287 2 189900093 C T 658665 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2038 681217 2 189901060 C T 658679 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2039 256004 2 189901295 G A 250456 Benign not_specified|not_provided 0.71278 0.72451 0.64337 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2040 681216 2 189906743 G A 658758 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2041 681215 2 189913273 C T 658759 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2042 681212 2 189916513 T C 658593 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2043 672286 2 189918337 T C 658699 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2044 670987 2 189918787 C T 658599 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2045 670986 2 189923104 A G 658711 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2046 672285 2 189923401 T C 658603 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2047 672284 2 189923434 A C 658606 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2048 213077 2 189923630 AT A 209545 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2049 672283 2 189925313 G C 658784 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2050 255997 2 189925548 T A 250461 Benign not_specified|not_provided 0.96233 0.95929 0.94249 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2051 670984 2 189927506 C G 658712 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2052 679169 2 189928999 C CAAGTA 658710 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2053 681211 2 189930854 G A 658713 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2054 136939 2 189932764 G A 140642 Benign/Likely_benign Ehlers-Danlos_syndrome,_type_7A|Ehlers-Danlos_... 0.03975 0.03241 0.01158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2055 672282 2 189936687 T G 658720 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2056 681210 2 189945414 G A 658608 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2057 136968 2 189963501 G A 140671 Benign/Likely_benign Ehlers-Danlos_syndrome_classic_type_2|Ehlers-D... 0.00684 0.00638 0.00439 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2058 439540 2 189974794 G A 433445 Benign Ehlers-Danlos_syndrome_classic_type_2|not_prov... . . 0.78854 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2059 439539 2 189974958 G T 433444 Benign Ehlers-Danlos_syndrome_classic_type_2 0.93995 0.9322 0.88858 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2060 679168 2 189975415 T A 658741 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2061 260422 2 190430177 A G 250469 Benign Hereditary_hemochromatosis|not_specified|not_p... 0.50154 0.61425 0.55012 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2062 774411 2 190617411 T TA 697214 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2063 369322 2 190648805 G T 353551 Likely_benign Lynch_syndrome . . 0.08806 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2064 333199 2 190649316 G C 284296 Likely_benign Lynch_syndrome . . 0.21925 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2065 333223 2 190921242 G A 286659 Benign Myostatin-related_muscle_hypertrophy . . 0.03135 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2066 379986 2 191161622 T C 366282 Benign not_specified|not_provided 0.7242 0.73928 0.68431 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2067 379985 2 191184475 A G 366807 Benign not_specified|not_provided 0.5519 0.52787 0.43171 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2068 379984 2 191184524 C T 366040 Benign not_specified 0.65633 0.68431 0.54872 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2069 403495 2 191922841 G A 389452 Benign not_specified 0.57012 0.64154 0.49641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2070 402748 2 196673533 A G 389457 Benign not_specified 0.96325 0.98935 0.96126 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2071 402753 2 196791276 T G 389459 Benign not_specified 0.48753 0.58933 0.48003 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2072 402755 2 196851911 G A 389470 Benign not_specified 0.52563 0.63121 0.54074 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2073 402756 2 196866420 C T 389460 Benign not_specified 0.73028 0.82819 0.65375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2074 402757 2 196912067 A G 389467 Benign not_specified 0.70847 0.733 0.77177 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2075 671556 2 198359027 G C 658840 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2076 129241 2 198362018 T C 134687 Benign not_specified|Spastic_paraplegia,_autosomal_do... 0.69537 0.64901 0.65455 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2077 129243 2 198363504 A G 134689 Benign not_specified|Spastic_paraplegia,_autosomal_do... 0.16439 0.16426 0.15815 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2078 137567 2 198364518 G A 141270 Benign not_specified|Spastic_paraplegia,_autosomal_do... . . 0.23323 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2079 587756 2 200173684 T G 578967 Benign History_of_neurodevelopmental_disorder 0.93303 0.98197 0.93091 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2080 333418 2 202050677 A G 284490 Benign Autoimmune_lymphoproliferative_syndrome|not_sp... 0.51015 0.4524 0.39417 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2081 333442 2 202082459 T A 286508 Benign Autoimmune_lymphoproliferative_syndrome|not_sp... 0.44272 0.40988 0.32907 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2082 333471 2 202084428 CT C 286531 Benign Autoimmune_lymphoproliferative_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2083 333476 2 202085051 TG T 284569 Uncertain_significance Autoimmune_lymphoproliferative_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2084 7763 2 202097531 TAGTAAG T 22802 protective Lung_cancer,_protection_against . . 0.38898 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2085 402492 2 202122995 A G 389468 Benign not_specified 0.66947 0.6673 0.64637 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2086 333505 2 202149696 G A 284615 Benign Caspase-8_deficiency 0.10618 0.102 0.17532 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2087 333513 2 202151439 G C 284626 Benign Caspase-8_deficiency . . 0.55431 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2088 333520 2 202151781 T C 283943 Benign Caspase-8_deficiency . . 0.17772 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2089 333526 2 202152243 G GAT 284641 Benign Caspase-8_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2090 257314 2 202491995 G A 250479 Benign not_specified|not_provided 0.25169 . 0.36182 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2091 667554 2 202501205 T C 658841 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2092 257317 2 202501448 T C 250486 Benign not_specified|not_provided 0.6686 0.65658 0.58506 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2093 333574 2 202565570 C T 283960 Likely_benign ALS2-Related_Disorders|Amyotrophic_Lateral_Scl... . . 0.10244 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2094 333577 2 202565681 G A 287069 Likely_benign ALS2-Related_Disorders|Amyotrophic_Lateral_Scl... . . 0.08966 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2095 261379 2 202570232 A G 250492 Benign not_specified 0.89064 0.92363 0.90595 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2096 261377 2 202575821 G A 250494 Benign ALS2-Related_Disorders|not_specified|Amyotroph... 0.89 0.92321 0.90535 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2097 261375 2 202580370 G A 250496 Benign not_specified 0.82053 0.83048 0.80411 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2098 261373 2 202591157 C T 250498 Likely_benign not_specified 0.01661 . 0.00399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2099 261369 2 202593280 G A 250501 Benign/Likely_benign ALS2-Related_Disorders|not_specified|Amyotroph... 0.07648 0.09785 0.11502 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2100 261368 2 202598113 C T 250502 Benign ALS2-Related_Disorders|not_specified|Amyotroph... 0.468 0.52717 0.3724 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2101 261364 2 202625615 C T 250505 Benign ALS2-Related_Disorders|not_specified|Amyotroph... 0.86145 0.9106 0.89657 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2102 678684 2 203329950 A G 658846 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2103 676056 2 203419859 A G 658748 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2104 136528 2 203420712 G A 140231 Benign/Likely_benign Primary_pulmonary_hypertension|not_specified 0.02568 0.02516 0.00998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2105 333682 2 203427559 C CA 287174 Benign Primary_pulmonary_hypertension . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2106 333715 2 203430456 T G 286792 Benign Primary_pulmonary_hypertension . . 0.55431 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2107 16921 2 204732714 A G 31960 Benign Diabetes_mellitus,_insulin-dependent,_suscepti... . . 0.42732 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2108 333771 2 206988452 A T 286845 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency . . 0.07947 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2109 333774 2 206988573 C A 284912 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency . . 0.47724 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2110 683068 2 206989170 C A 658032 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2111 683049 2 206990984 A G 658036 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2112 669517 2 206992987 T C 658163 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2113 683048 2 206995139 C A 658164 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2114 683046 2 206995240 G A 658167 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2115 683045 2 206997419 G A 658147 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2116 683042 2 206998050 A G 658169 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2117 669516 2 207003671 T C 658171 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2118 683041 2 207006466 G A 658041 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2119 129695 2 207006676 T C 135141 Benign/Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficie... 0.36053 0.31052 0.3099 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2120 682758 2 207007127 C T 658173 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2121 669514 2 207007177 G A 658174 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2122 129696 2 207008763 C A 135142 Benign/Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficie... 0.50961 . 0.46226 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2123 333790 2 207024107 G C 284926 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency . . 0.38019 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2124 333794 2 207630338 C T 284936 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.11042 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2125 683905 2 207637364 G A 658751 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2126 333811 2 207656613 A G 284961 Uncertain_significance Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.01358 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2127 333825 2 207657741 G A 286901 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.1853 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2128 260059 2 208986385 A G 250511 Benign Cataract|not_specified 0.93718 0.87924 0.8117 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2129 260061 2 208986637 T C 250512 Benign Cataract|not_specified|not_provided 0.89243 . 0.77676 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2130 260062 2 208989037 A G 250514 Benign Cataract|not_specified|not_provided 0.57443 0.59688 0.64477 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2131 677166 2 209007559 T G 655409 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2132 677165 2 209010558 A G 655410 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2133 333897 2 209184980 G A 284315 Benign Fleck_corneal_dystrophy 0.99215 0.99769 0.99181 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2134 333898 2 209184999 C T 285012 Benign Fleck_corneal_dystrophy 0.92214 0.95976 0.91154 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2135 333905 2 209190330 T C 287364 Benign Fleck_corneal_dystrophy 0.92242 . 0.91174 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2136 333909 2 209190519 A T 287006 Benign Fleck_corneal_dystrophy 0.92234 0.95972 0.91154 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2137 333910 2 209190528 C G 287007 Benign Fleck_corneal_dystrophy 0.92311 0.96006 0.91214 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2138 333917 2 209191082 C A 284327 Benign Fleck_corneal_dystrophy 0.92234 0.95961 0.91154 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2139 333918 2 209191099 T C 284328 Benign Fleck_corneal_dystrophy 0.99462 0.99847 0.99601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2140 333928 2 209209827 G A 285022 Benign Fleck_corneal_dystrophy 0.92165 0.95955 0.91094 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2141 333930 2 209212707 G A 284331 Benign Fleck_corneal_dystrophy 0.68307 0.80986 0.71605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2142 333932 2 209214770 A G 284336 Benign Fleck_corneal_dystrophy 0.92179 0.9596 0.91114 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2143 333934 2 209215586 A G 284342 Benign Fleck_corneal_dystrophy 0.92188 0.95961 0.91114 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2144 333941 2 209220157 G T 287029 Benign Fleck_corneal_dystrophy . . 0.91114 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2145 333942 2 209220238 G C 287467 Benign Fleck_corneal_dystrophy . . 0.91114 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2146 1620 2 211060050 T G 16659 Benign Very_long_chain_acyl-CoA_dehydrogenase_deficie... . 0.30109 0.21106 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2147 333997 2 211074909 T C 287296 Benign Very_long_chain_acyl-CoA_dehydrogenase_deficiency 0.27726 0.30182 0.21166 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2148 671408 2 211342138 T G 658854 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2149 137026 2 211342502 G A 140729 Benign Congenital_hyperammonemia,_type_I|not_specified 0.42757 0.50657 0.48083 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2150 203647 2 211421452 A ATCT 199986 Benign Congenital_hyperammonemia,_type_I|not_specifie... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2151 683611 2 211438396 G A 658856 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2152 683612 2 211455342 T C 658858 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2153 281476 2 211456637 ACC GCT 265713 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2154 128851 2 211481257 C G 134299 Benign Congenital_hyperammonemia,_type_I|not_specifie... 0.66223 . 0.64916 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2155 258479 2 211515058 A T 250536 Benign not_specified|not_provided 0.35753 0.41857 0.42272 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2156 683616 2 211523163 A G 658760 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2157 258483 2 211527827 GT G 250540 Benign/Likely_benign Congenital_hyperammonemia,_type_I|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2158 128852 2 211540507 C A 134300 Benign Congenital_hyperammonemia,_type_I|not_specified 0.32916 0.30339 0.28854 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2159 203646 2 211541721 A G 199993 Benign/Likely_benign Congenital_hyperammonemia,_type_I|not_specified 0.03737 . 0.01937 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2160 334042 2 211543055 T C 287441 Benign Congenital_hyperammonemia,_type_I . . 0.23622 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2161 334045 2 211543147 T G 284568 Benign Congenital_hyperammonemia,_type_I . . 0.26897 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2162 334046 2 211543401 C G 285250 Benign Congenital_hyperammonemia,_type_I . . 0.24581 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2163 769264 2 212578379 TA T 777230 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2164 801875 2 215593261 CT C,CTTT 790173 Benign Familial_cancer_of_breast . . . 1|2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
2165 256214 2 215632192 G A 250542 Benign/Likely_benign Neoplasm_of_the_breast|Hereditary_cancer-predi... 0.33531 0.3614 0.35224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2166 215471 2 215632255 CA TG 212134 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome|not_sp... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2167 256213 2 215634055 C T 250543 Benign Hereditary_cancer-predisposing_syndrome|not_sp... 0.35953 0.38181 0.36522 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2168 142769 2 215645464 C G 152483 Benign/Likely_benign Neoplasm_of_the_breast|Hereditary_cancer-predi... 0.53183 0.5487 0.45927 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2169 334196 2 215657182 TAA T 285273 Conflicting_interpretations_of_pathogenicity Neoplasm_of_the_breast|Hereditary_cancer-predi... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2170 183698 2 215674224 G A 181856 Benign/Likely_benign Neoplasm_of_the_breast|Hereditary_cancer-predi... 0.30314 0.43768 0.33127 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2171 334200 2 215674341 A G 284585 Likely_benign Neoplasm_of_the_breast 0.78518 0.68951 0.74501 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2172 334204 2 215796302 G GACAA 287669 Benign Congenital_ichthyosiform_erythroderma . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2173 334208 2 215796568 T C 287676 Benign Congenital_ichthyosiform_erythroderma . . 0.59385 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2174 334218 2 215797332 C T 287697 Benign Congenital_ichthyosiform_erythroderma 0.38736 0.43135 0.39816 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2175 262833 2 215812297 G A 250544 Benign not_specified 0.52345 0.46968 0.52336 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2176 262831 2 215820013 G A 250546 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.38221 0.40511 0.35004 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2177 262828 2 215851246 A G 250549 Benign not_specified 0.99885 0.99968 0.999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2178 262824 2 215876166 A T 250553 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.99777 0.9994 0.9984 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2179 801893 2 216190020 C G 790193 Benign AICAR_transformylase/IMP_cyclohydrolase_defici... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2180 225999 2 216212339 T C 227829 drug_response methotrexate_response_-_Efficacy . 0.3966 0.28554 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2181 788697 2 216289830 G A 708016 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2182 801895 2 216300482 T A 790195 Benign Spondylometaphyseal_dysplasia . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2183 334280 2 217277249 C T 284640 Benign Schimke_immunoosseous_dysplasia . . 0.20787 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2184 260662 2 219205471 G A 250572 Benign Paroxysmal_nonkinesigenic_dyskinesia_1|not_spe... 0.06582 0.04387 0.05132 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2185 334332 2 219209796 C A 284672 Benign Paroxysmal_nonkinesigenic_dyskinesia_1 . . 0.27436 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2186 334342 2 219210606 T C 287832 Benign Paroxysmal_nonkinesigenic_dyskinesia_1 . . 0.47664 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2187 334345 2 219210781 G A 287836 Benign Paroxysmal_nonkinesigenic_dyskinesia_1 . . 0.46805 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2188 769265 2 219266385 G A 697320 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2189 669695 2 219525335 C T 658817 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2190 334362 2 219646547 A AC 287853 Benign Cholestanol_storage_disease . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2191 281220 2 219924867 G A 265457 Benign/Likely_benign Brachydactyly|not_specified|not_provided 0.00315 0.00411 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2192 780100 2 220097286 G A 708050 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2193 780101 2 220099713 C T 708052 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2194 680749 2 220144410 G C 658820 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2195 137118 2 220145286 C T 140821 Benign not_specified 0.27849 . 0.26977 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2196 680750 2 220146196 G T 658678 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2197 674022 2 220146402 C T 658898 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2198 137119 2 220146651 G A 140822 Benign not_specified 0.17177 0.14963 0.15535 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2199 671677 2 220147108 G T 658792 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2200 680751 2 220147732 C T 658793 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2201 672013 2 220282955 C T 658797 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2202 36002 2 220283259 A G 44666 Benign Cardiomyopathy|Scapuloperoneal_weakness|Myofib... 0.89723 0.96521 0.88618 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2203 36003 2 220283277 T C 44667 Benign Cardiomyopathy|Scapuloperoneal_weakness|Myofib... 0.87939 . 0.86601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2204 258491 2 220284779 C T 250577 Benign not_specified|not_provided 0.47963 0.61694 0.52935 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2205 369331 2 220291474 T C 353560 Benign Scapuloperoneal_weakness|Myofibrillar_myopathy... . . 0.52836 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2206 194972 2 220416942 G C 192134 Benign Three_M_syndrome|not_specified 0.43533 0.46681 0.38758 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2207 288014 2 220417266 C T 272251 Benign Three_M_syndrome_2|Three_M_syndrome|not_specified 0.42003 0.46833 0.3766 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2208 334466 2 220419236 T C 287705 Benign Three_M_syndrome 0.98775 0.99608 0.98522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2209 334469 2 220419339 T C 287707 Benign Three_M_syndrome 0.96139 0.98586 0.96106 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2210 334470 2 220420785 G A 284807 Benign Three_M_syndrome 0.25997 . 0.22923 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2211 334475 2 220420956 A G 284811 Benign Three_M_syndrome 0.96938 0.99008 0.96366 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2212 334493 2 220422583 G A 287738 Uncertain_significance Three_M_syndrome 0.01067 0.01013 0.00399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2213 334496 2 220422774 A G 288042 Benign Three_M_syndrome 0.45583 . 0.41913 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2214 334503 2 220427395 G A 287767 Benign Three_M_syndrome 0.19209 0.20281 0.16414 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2215 334508 2 220430203 C T 287769 Benign Three_M_syndrome 0.82823 0.86545 0.79273 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2216 193382 2 220435034 A G 190546 Benign Three_M_syndrome|not_specified 0.82085 0.86442 0.78335 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2217 290129 2 220435375 G A 274366 Benign Three_M_syndrome|not_specified 0.29745 0.44477 0.35883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2218 195432 2 223161889 A G 192593 Benign Craniofacial_deafness_hand_syndrome|Waardenbur... 0.84653 0.88716 0.90435 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2219 682627 2 224821790 A T 658921 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2220 682628 2 224822669 T C 658799 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2221 669505 2 224824002 C A 658844 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2222 682635 2 224828298 G A 658926 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2223 334570 2 225335173 G A 285544 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.99561 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2224 334588 2 225336050 A G 284901 Likely_benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.0012 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2225 683328 2 227924774 C T 658689 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2226 682798 2 227942519 A G 658805 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2227 254978 2 228102723 G C 250620 Benign Alport_syndrome|Alport_syndrome_3,_autosomal_d... 0.35109 . 0.23023 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2228 254996 2 228111435 T C 250625 Benign Alport_syndrome|Alport_syndrome_3,_autosomal_d... 0.77043 0.83022 0.79673 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2229 255001 2 228113175 A G 250626 Benign Alport_syndrome|Alport_syndrome_3,_autosomal_d... 0.77013 0.8304 0.79633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2230 255009 2 228120800 T C 250631 Benign not_specified 0.02577 0.02745 0.01418 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2231 255010 2 228121101 G T 250632 Benign/Likely_benign Alport_syndrome|Alport_syndrome_3,_autosomal_d... 0.16577 0.16675 0.11582 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2232 254985 2 228135631 C T 250642 Benign Alport_syndrome|Alport_syndrome_3,_autosomal_d... 0.38901 0.46945 0.39996 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2233 585521 2 228173078 A G 576665 Benign not_provided . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2234 334792 2 228176901 A C 285112 Benign Alport_syndrome . . 0.72903 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2235 334799 2 228177479 C T 288476 Benign Alport_syndrome . . 0.84764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2236 334808 2 228177751 G A 288077 Benign Alport_syndrome . . 0.26897 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2237 334809 2 228177825 C G 288078 Benign Alport_syndrome . . 0.91613 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2238 334817 2 228178645 C G 288490 Benign Alport_syndrome . . 0.91613 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2239 334821 2 228178780 A C 285135 Benign Alport_syndrome . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2240 684244 2 228194653 C T 658703 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2241 684246 2 228197488 A G 658849 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2242 684251 2 228207776 C A 658845 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2243 684252 2 228220769 T C 658716 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2244 334834 2 228550004 G A 285141 Benign Thiamine_Metabolism_Dysfunction_Syndrome . . 0.99701 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2245 215155 2 228560800 GA G 210790 Benign Biotin-thiamine-responsive_basal_ganglia_disea... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2246 683857 2 228564591 A T 658746 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2247 369332 2 228582746 G A 353561 Benign Thiamine_Metabolism_Dysfunction_Syndrome . . 0.53554 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2248 334896 2 231036768 T C 288165 Benign/Likely_benign Hepatic_venoocclusive_disease_with_immunodefic... 0.11756 0.10023 0.07887 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2249 334898 2 231036866 G A 288166 Benign/Likely_benign Hepatic_venoocclusive_disease_with_immunodefic... 0.10849 . 0.06809 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2250 334902 2 231042276 A G 288174 Benign Hepatic_venoocclusive_disease_with_immunodefic... 0.4175 0.42564 0.32488 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2251 5539 2 231050715 A G 20578 Benign Mycobacterium_tuberculosis,_susceptibility_to|... . . 0.90395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2252 334909 2 231072709 C T 288178 Benign Hepatic_venoocclusive_disease_with_immunodefic... 0.70229 0.70872 0.80252 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2253 334911 2 231077112 G A 288179 Benign Hepatic_venoocclusive_disease_with_immunodefic... 0.21529 0.21078 0.15915 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2254 334912 2 231077154 G A 285894 Benign Hepatic_venoocclusive_disease_with_immunodefic... 0.28694 0.23788 0.22883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2255 403465 2 231077725 A G 389491 Benign not_specified 0.91481 0.90907 0.95108 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2256 767868 2 233244930 G C 697393 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2257 128957 2 233349588 G A 134404 Benign not_specified 0.95802 0.9832 0.96266 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2258 677180 2 233385396 G A 655432 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2259 677181 2 233388813 T G 655433 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2260 677664 2 233389918 A G 658970 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2261 801911 2 233408220 AG A 790211 Benign Multiple_pterygium_syndrome_Escobar_type . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2262 194064 2 233410294 C T 191227 Benign/Likely_benign Multiple_pterygium_syndrome_Escobar_type|not_s... 0.17646 0.18694 0.15196 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2263 335021 2 233410922 A G 288732 Likely_benign Multiple_pterygium_syndrome_Escobar_type . . 0.15735 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2264 335023 2 233410994 C T 288738 Likely_benign Multiple_pterygium_syndrome_Escobar_type . . 0.15515 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2265 335026 2 233411016 CTCTTTTT C 285970 Likely_benign Multiple_pterygium_syndrome_Escobar_type . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2266 335029 2 233630577 G A 288739 Uncertain_significance Leber_congenital_amaurosis . . 0.00499 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2267 518337 2 233712049 G A 508778 Benign Parkinson_disease_11 0.64101 0.63513 0.60523 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2268 518340 2 233712296 G A 508781 Benign Parkinson_disease_11 0.68321 0.64495 0.63998 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2269 1130 2 234183368 A G 16169 Benign Inflammatory_bowel_disease_10,_susceptibility_... . 0.4578 0.39597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2270 167635 2 234235749 G C 178039 Benign not_specified 0.39548 0.4406 0.36681 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2271 335069 2 234235820 C T 288347 Benign/Likely_benign Oguchi's_disease|Retinitis_Pigmentosa,_Recessi... 0.12935 0.10147 0.10623 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2272 194606 2 234255547 G A 191769 Benign Oguchi's_disease|not_specified|Retinitis_Pigme... 0.30822 0.39092 0.30292 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2273 225993 2 234580453 AT A 227745 drug_response SN-38_response_-_Other . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2274 440384 2 234590527 T G 434018 Uncertain_significance not_specified . . 0.29772 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2275 440385 2 234590616 C A 434019 Benign not_specified 0.34884 . 0.29732 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2276 440386 2 234590970 T G 434020 Benign not_specified . 0.58805 0.57628 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2277 440389 2 234591205 T C 434023 Benign not_specified 0.34922 0.35129 0.29772 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2278 440378 2 234601669 T G 434012 Benign not_specified 0.4042 0.3901 0.36222 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2279 440379 2 234601965 A G 434013 Benign not_specified 0.36053 0.35185 0.34265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2280 440381 2 234602191 A G 434015 Benign not_specified 0.30463 0.31333 0.27756 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2281 440380 2 234602202 A C 434014 Benign not_specified 0.33992 0.34567 0.32468 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2282 12288 2 234665659 T G 27327 Benign Gilbert's_syndrome|Gilbert_syndrome,_susceptib... . . 0.58806 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2283 810732 2 234665782 G A 798981 Likely_benign Gilbert's_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2284 226029 2 234668570 C T 227747 drug_response atazanavir_response_-_Other . . 0.35403 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2285 12289 2 234672639 G T 27328 Benign,_association Gilbert's_syndrome|Bilirubin,_serum_level_of,_... . . 0.34764 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2286 810733 2 234672722 T G 798982 Benign Gilbert's_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2287 335084 2 234681416 T C 285391 Benign Crigler-Najjar_syndrome|Gilbert's_syndrome|Luc... . . 0.7524 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2288 335085 2 234681544 G C 288359 Benign Crigler-Najjar_syndrome|Gilbert's_syndrome|Luc... . . 0.82109 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2289 335086 2 234681645 G C 288783 Benign Crigler-Najjar_syndrome|Gilbert's_syndrome|Luc... . . 0.74501 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2290 779327 2 237032574 C T 708124 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2291 335089 2 238232752 C A 285394 Benign Collagen_VI-related_myopathy . . 0.6879 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2292 335091 2 238232811 T A 286060 Benign Collagen_VI-related_myopathy . . 0.15555 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2293 94900 2 238233410 C G 100800 Benign Collagen_VI-related_myopathy|not_specified 0.13824 . 0.20986 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2294 95022 2 238233483 G A 100922 Benign not_specified|not_provided 0.25273 0.2908 0.22963 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2295 95018 2 238243292 G A 100918 Benign Collagen_VI-related_myopathy|not_specified 0.36229 0.3884 0.34625 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2296 95014 2 238243464 C G 100914 Benign Collagen_VI-related_myopathy|not_specified 0.83508 0.77288 0.79233 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2297 679240 2 238244575 T C 658901 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2298 95008 2 238244963 A G 100908 Benign Collagen_VI-related_myopathy|not_specified 0.69656 0.63862 0.63658 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2299 94998 2 238249630 C T 100898 Benign Collagen_VI-related_myopathy|not_specified 0.36783 0.39875 0.34245 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2300 94968 2 238258814 C G 100868 Benign Bethlem_myopathy_1|Ullrich_congenital_muscular... 0.5589 0.54892 0.55431 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2301 679237 2 238259675 G A 658999 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2302 668109 2 238265684 C T 658790 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2303 681264 2 238266146 C T 659005 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2304 679231 2 238266248 G C 658801 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2305 679230 2 238266633 G A 658939 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2306 679229 2 238267058 G A 658806 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2307 94962 2 238267717 C T 100862 Benign Bethlem_myopathy_1|Ullrich_congenital_muscular... 0.24919 0.21289 0.33087 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2308 668108 2 238268454 A C 659007 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2309 680754 2 238269871 C G 658818 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2310 668107 2 238270726 A G 658941 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2311 94950 2 238271882 T TA 100850 Benign Collagen_VI-related_myopathy|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2312 680753 2 238274828 C A 659010 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2313 94936 2 238277573 C A 100836 Benign Collagen_VI-related_myopathy|not_specified 0.23435 . 0.26558 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2314 94933 2 238277795 A G 100833 Benign Collagen_VI-related_myopathy|not_specified 0.34707 0.28888 0.38838 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2315 668106 2 238278142 G A 658832 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2316 94921 2 238283605 G A 100821 Benign Collagen_VI-related_myopathy|not_specified 0.19806 0.23271 0.21586 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2317 679227 2 238305211 C T 658833 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2318 380807 2 238322579 A G 367109 Benign not_specified . . 0.27017 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2319 801915 2 240111870 CG C 790215 Benign Brachydactyly-Mental_Retardation_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2320 335152 2 240897085 C T 285460 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency . . 0.59045 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2321 335156 2 240897331 G A 286135 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency . . 0.25579 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2322 335174 2 240898578 C T 288875 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency . . 0.50839 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2323 335183 2 240899346 G A 286170 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency . . 0.28674 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2324 335193 2 240900121 C T 288898 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency . . 0.2494 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2325 214702 2 240900607 TG T 210797 Benign/Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficie... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2326 669885 2 240944975 C T 659026 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2327 129686 2 240946766 T C 135132 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficie... 0.36769 0.40644 0.35623 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2328 669507 2 240954593 C T 658965 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2329 669869 2 240957734 G A 658960 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2330 129685 2 240961728 T C 135131 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficie... 0.69453 0.66626 0.70248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2331 669506 2 240964393 CCT C 659031 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2332 767876 2 240985347 G A 697464 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2333 5093 2 241531174 G A 20132 risk_factor Diabetes_mellitus_type_2 . . 0.1855 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2334 335233 2 241654958 G A 286218 Likely_benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.38878 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2335 335240 2 241655544 G A 288531 Likely_benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.27236 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2336 670495 2 241659368 C A 659052 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2337 682847 2 241660978 T C 658972 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2338 671426 2 241676929 G T 658981 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2339 670535 2 241680633 G T 659071 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2340 682843 2 241684660 T C 658996 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2341 672932 2 241685027 G A 658876 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2342 129389 2 241685586 G A 134835 Benign/Likely_benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.05727 . 0.05032 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2343 672931 2 241685673 C T 659075 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2344 672930 2 241690195 C A 659079 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2345 284274 2 241696840 ATCC A 268511 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2346 672929 2 241700307 G T 658887 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2347 672928 2 241700318 C T 658992 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2348 671033 2 241702561 T A 659008 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2349 683895 2 241710083 A G 659084 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2350 682831 2 241713429 T C 659017 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2351 129396 2 241713646 A G 134842 Benign/Likely_benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.44856 0.38623 0.51358 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2352 672669 2 241722970 G A 659090 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2353 674082 2 241726230 C A 659064 Likely_benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2354 673387 2 241726646 A G 658923 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2355 204033 2 241808825 AGGCCTCCCT A 200480 Uncertain_significance Primary_hyperoxaluria,_type_I . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2356 204041 2 241810957 C T 200508 Uncertain_significance Primary_hyperoxaluria,_type_I . . 0.23982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2357 204054 2 241815473 G A 200569 Uncertain_significance Primary_hyperoxaluria,_type_I 0.42616 0.48223 0.34325 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2358 204057 2 241817322 C T 200584 Uncertain_significance Primary_hyperoxaluria,_type_I . . 0.2522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2359 204063 2 241818279 C A 200610 Benign Primary_hyperoxaluria|Primary_hyperoxaluria,_t... 0.30447 0.3572 0.2522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2360 204064 2 241818527 A C 200611 Benign Primary_hyperoxaluria|Primary_hyperoxaluria,_t... . . 0.71985 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2361 335307 2 242674104 A G 285583 Benign D-2-hydroxyglutaric_aciduria . . 0.72444 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2362 158414 2 242674803 G A 168055 Benign/Likely_benign D-2-hydroxyglutaric_aciduria|not_specified|not... 0.2736 . 0.22644 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2363 158415 2 242674959 T G 168057 Likely_benign not_specified 0.72672 0.68432 0.74241 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2364 158417 2 242680430 A G 168059 Likely_benign not_specified 0.56486 . 0.5647 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2365 158421 2 242682029 T C 168061 Likely_benign not_specified 0.28443 0.25155 0.23702 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2366 158423 2 242684115 T C 168063 Benign/Likely_benign D-2-hydroxyglutaric_aciduria|not_specified|not... 0.55932 0.48836 0.5611 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2367 801922 2 242688366 C T 790222 Benign D-2-hydroxyglutaric_aciduria_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2368 158404 2 242690675 G A 168064 Benign/Likely_benign D-2-hydroxyglutaric_aciduria|not_specified|not... 0.27081 0.24886 0.22364 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2369 158411 2 242707101 A G 168071 Likely_benign not_specified 0.61751 0.52943 0.62999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2370 335332 2 242707638 G A 289020 Likely_benign D-2-hydroxyglutaric_aciduria . . 0.09844 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2371 335338 2 242707833 C T 285603 Benign D-2-hydroxyglutaric_aciduria . . 0.53295 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2372 335349 2 242708162 C T 288640 Benign D-2-hydroxyglutaric_aciduria . . 0.23263 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2373 767883 3 1339680 GGTTTTT G 777335 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2374 402550 3 1424718 G A 389529 Benign not_specified 0.40727 0.44493 0.48343 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2375 669583 3 3170409 G C 659840 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2376 403570 3 3170792 C T 389592 Benign Sideroblastic_anemia_with_B-cell_immunodeficie... 0.90182 0.97223 0.90455 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2377 676433 3 3170966 T C 659841 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2378 684282 3 3171023 A G 659968 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2379 669584 3 3171125 G A 659744 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2380 671437 3 3179400 A G 659756 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2381 684283 3 3181979 T TA 659849 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2382 671438 3 3181987 A T 659670 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2383 684284 3 3182485 A G 659671 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2384 684285 3 3182500 G C 659970 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2385 671605 3 3186719 T G 659853 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2386 684287 3 3188901 A C 659684 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2387 669585 3 3188914 C G 659974 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2388 380145 3 3189279 A G 367091 Benign not_specified 0.73377 0.79864 0.73902 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2389 380146 3 3189398 A G 367093 Benign not_specified 0.58034 0.543 0.40076 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2390 128855 3 3215954 A G 134303 Benign not_specified 0.88198 0.96728 0.88379 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2391 345295 3 4403153 T G 294907 Benign Multiple_sulfatase_deficiency . . 0.48163 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2392 345303 3 4403357 A C 291214 Benign Multiple_sulfatase_deficiency . . 0.88019 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2393 345304 3 4403364 TCTCA T 294486 Benign Multiple_sulfatase_deficiency . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2394 345308 3 4403537 C T 294930 Benign Multiple_sulfatase_deficiency . . 0.42812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2395 345310 3 4403614 T C 291220 Benign Multiple_sulfatase_deficiency . . 0.29553 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2396 345312 3 4403767 A G 291221 Benign Multiple_sulfatase_deficiency . . 0.70447 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2397 558943 3 4403817 TT AC 549550 Benign not_specified|not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2398 96559 3 4403837 A G 102452 Benign Multiple_sulfatase_deficiency|not_specified|no... 0.65362 0.64405 0.76038 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2399 684132 3 4404087 A G 660029 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2400 684125 3 4459972 A G 659939 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2401 684119 3 4461569 G A 659879 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2402 263009 3 4461698 C T 251142 Benign not_specified|not_provided 0.89628 0.96174 0.88678 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2403 129298 3 4712413 G A 134744 Benign Spinocerebellar_ataxia_29|not_specified|Spinoc... 0.68085 0.68323 0.61402 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2404 804939 3 4767262 T C 793026 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2405 129301 3 4829732 A G 134747 Benign not_specified|Spinocerebellar_Ataxia,_Dominant 0.30488 0.32942 0.24561 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2406 129302 3 4842231 C T 134748 Benign not_specified|Spinocerebellar_Ataxia,_Dominant 0.23085 0.28681 0.26458 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2407 129303 3 4856180 T C 134749 Benign not_specified|Spinocerebellar_Ataxia,_Dominant... 0.80256 0.82442 0.79094 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2408 129304 3 4856234 G A 134750 Benign not_specified|Spinocerebellar_Ataxia,_Dominant... 0.59549 0.60545 0.58746 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2409 345905 3 4888552 A T 295090 Likely_benign Spinocerebellar_Ataxia,_Dominant . . 0.01018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2410 345929 3 4889440 G T 295184 Benign Spinocerebellar_Ataxia,_Dominant . . 0.26877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2411 683301 3 8775153 C T 660042 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2412 31746 3 8775457 G A 40406 not_provided not_provided . . 0.22404 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2413 31709 3 8775661 C T 40369 Benign/Likely_benign Hypertrophic_cardiomyopathy|Long_QT_syndrome|R... . 0.30104 0.37101 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2414 31706 3 8788198 A T 40366 Likely_benign Hypertrophic_cardiomyopathy|Long_QT_syndrome|R... . . 0.34824 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2415 31720 3 8788336 A G 40380 Likely_benign Hypertrophic_cardiomyopathy|Long_QT_syndrome|R... . . 0.27157 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2416 31707 3 8788364 C G 40367 Likely_benign Hypertrophic_cardiomyopathy|Long_QT_syndrome|R... . . 0.32268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2417 31727 3 8788485 T A 40387 not_provided not_provided . . 0.83666 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2418 342394 3 10141184 C T 291624 Benign Fanconi_anemia . . 0.20607 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2419 257063 3 10142949 C T 250849 Benign not_specified 0.30724 0.32813 0.21466 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2420 342397 3 10183337 G A 291569 Benign Von_Hippel-Lindau_syndrome . . 0.54333 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2421 342407 3 10191943 G A 287967 Benign Von_Hippel-Lindau_syndrome . . 0.55711 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2422 342424 3 10192672 G A 287980 Benign Von_Hippel-Lindau_syndrome . . 0.58467 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2423 342425 3 10192709 C T 291585 Benign Von_Hippel-Lindau_syndrome . . 0.55671 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2424 342451 3 10193509 A G 287987 Benign Von_Hippel-Lindau_syndrome . . 0.98802 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2425 342459 3 10193683 T G 291602 Benign Von_Hippel-Lindau_syndrome . . 0.54892 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2426 342491 3 10194624 G C 288023 Benign Von_Hippel-Lindau_syndrome . . 0.88998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2427 342512 3 10195293 T TG 288779 Benign Von_Hippel-Lindau_syndrome . . 0.97105 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2428 5062 3 10331457 G T 20101 Pathogenic,_risk_factor Metabolic_syndrome,_susceptibility_to|Obesity,... . 0.08557 0.08327 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2429 343059 3 12526188 G T 292416 Benign Pontoneocerebellar_hypoplasia . . 0.45447 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2430 667568 3 12533335 A C 659464 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2431 670254 3 12573336 A G 659478 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2432 670802 3 12573998 T C 659482 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2433 343086 3 12574512 G T 292284 Benign Pontoneocerebellar_hypoplasia . . 0.42193 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2434 343092 3 12625264 CTGTT C,CTGTTTGTT 289310 Uncertain_significance Noonan_syndrome|Noonan_syndrome_with_multiple_... . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
2435 40624 3 12626516 G A 49094 Benign not_specified 0.44241 0.35043 0.36462 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2436 561371 3 12628920 G C 552548 Benign not_provided . . 0.17832 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2437 561370 3 12632652 G C 552550 Benign not_provided . . 0.34465 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2438 561369 3 12633083 A G 552551 Benign not_provided . . 0.18051 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2439 561823 3 12633552 T C 552553 Benign not_provided . . 0.53854 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2440 561368 3 12641518 A G 552556 Benign not_provided . . 0.53854 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2441 561588 3 12647457 A G 552561 Benign not_provided . . 0.19449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2442 561367 3 12653233 G T 552569 Benign not_provided . . 0.19469 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2443 561587 3 12653800 A G 552571 Benign not_provided . . 0.17332 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2444 561522 3 12660466 G C 552573 Benign not_provided . . 0.19449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2445 679865 3 14166394 T C 659746 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2446 672164 3 14166835 C T 659555 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2447 672172 3 14166872 C T 659554 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2448 669015 3 14172827 C T 659751 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2449 672173 3 14173963 G T 659564 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2450 671030 3 14174146 T C 659662 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2451 46148 3 14174427 A T 55313 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.28756 0.32087 0.35264 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2452 46150 3 14175262 T C 55315 Benign/Likely_benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.33277 0.37237 0.46326 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2453 671031 3 14176446 G A 659571 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2454 672174 3 14177194 T C 659764 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2455 672175 3 14180552 A G 659771 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2456 671209 3 14180633 C T 659780 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2457 343511 3 14183410 T C 288952 Benign/Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . . 0.6891 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2458 343518 3 14183758 A G 288959 Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . . 0.09265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2459 343523 3 14184074 A C 288962 Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . . 0.12999 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2460 343535 3 14184669 T C 292665 Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . . 0.10483 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2461 343536 3 14184719 T C 289712 Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . . 0.13059 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2462 343550 3 14186757 C G 292973 Benign/Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . . 0.91893 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2463 343551 3 14186823 T C 288985 Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . 0.12879 0.10783 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2464 343552 3 14186830 A T 288989 Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . . 0.10823 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2465 343560 3 14187345 G C 289736 Benign/Likely_benign Xeroderma_pigmentosum|Arrhythmogenic_right_ven... . 0.35332 0.25499 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2466 190215 3 14187449 G T 187973 drug_response Xeroderma_pigmentosum|Arrhythmogenic_right_ven... 0.64206 0.63254 0.6847 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2467 259471 3 14187699 T C 250965 Benign not_specified 0.65488 0.64668 0.69429 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2468 259470 3 14188762 G C 250966 Benign not_specified 0.4272 0.47317 0.32788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2469 190214 3 14190237 T G 187976 Benign Xeroderma_pigmentosum|not_specified|not_provided 0.63534 0.63016 0.67971 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2470 259469 3 14190268 G C 250967 Benign not_specified 0.42688 . 0.32788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2471 135469 3 14193889 C T 139208 Benign Xeroderma_pigmentosum|not_specified 0.26583 0.27341 0.23542 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2472 190212 3 14197987 A T 187977 Benign not_specified . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2473 135485 3 14199887 G A 139224 Benign Xeroderma_pigmentosum|not_specified 0.20058 0.23775 0.23303 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2474 259472 3 14208625 G C 250973 Benign not_specified 0.33404 0.32153 0.35563 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2475 259465 3 14220095 C G 250975 Benign Xeroderma_pigmentosum|not_specified 0.43468 0.42109 0.32788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2476 343823 3 15491756 G A 293420 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.38858 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2477 343828 3 15492150 C T 293014 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.38858 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2478 343835 3 15492636 G A 289150 Likely_benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.0617 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2479 343839 3 15492786 T A 293024 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.45288 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2480 343840 3 15492807 G A 289955 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.48023 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2481 128825 3 15495386 G A 134274 Benign/Likely_benign Endplate_acetylcholinesterase_deficiency|not_s... 0.02706 0.02975 0.01518 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2482 679264 3 15495644 T C 659854 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2483 679263 3 15495654 A G 659641 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2484 668111 3 15495764 G A 659646 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2485 679262 3 15498261 T C 659856 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2486 679261 3 15498272 G A 659648 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2487 128827 3 15499713 T C 134276 Benign/Likely_benign Endplate_acetylcholinesterase_deficiency|not_s... 0.05705 . 0.05252 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2488 679260 3 15507761 G A 659858 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2489 679259 3 15508160 T TCTGTC 659866 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2490 801939 3 15509327 C G 790344 Benign Endplate_acetylcholinesterase_deficiency . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2491 259862 3 15515695 C T 250990 Benign not_specified|not_provided 0.47401 0.43139 0.47963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2492 679257 3 15515918 C G 659623 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2493 259860 3 15516481 T C 250992 Benign not_specified|not_provided 0.37037 0.38252 0.38598 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2494 679255 3 15516820 C T 659867 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2495 259859 3 15516910 T C 250993 Benign not_specified|not_provided 0.36866 0.46652 0.38598 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2496 679253 3 15517025 G A 659628 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2497 259857 3 15518731 G C 250994 Benign not_specified|not_provided 0.38096 0.45599 0.40236 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2498 679251 3 15518841 G A 659632 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2499 679250 3 15518889 T C 659873 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2500 679249 3 15520244 C T 659875 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2501 679247 3 15520639 T G 659635 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2502 679246 3 15520677 G T 659754 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2503 128826 3 15520838 T C 134275 Benign/Likely_benign Endplate_acetylcholinesterase_deficiency|not_s... 0.04813 0.03192 0.03574 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2504 668110 3 15529405 C A 659757 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2505 679245 3 15529543 T C 659878 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2506 679244 3 15562801 T C 659886 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2507 369412 3 15563268 C G 353641 Benign Congenital_Myasthenic_Syndrome,_Recessive . . 0.42013 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2508 1900 3 15686693 G C 16939 Pathogenic/Likely_pathogenic Biotinidase_deficiency|not_provided . 0.03166 0.01857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2509 344532 3 24158647 C T 289816 Benign Thyroid_Hormone_Resistance . . 0.19449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2510 344533 3 24158691 C T 289819 Benign Thyroid_Hormone_Resistance . . 0.14237 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2511 344545 3 24159387 A G 290576 Benign Thyroid_Hormone_Resistance . . 0.48023 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2512 344584 3 24161493 C T 294308 Benign Thyroid_Hormone_Resistance . . 0.12979 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2513 344586 3 24161713 AG A 289852 Benign Thyroid_Hormone_Resistance . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2514 344613 3 24163021 T C 293766 Benign Thyroid_Hormone_Resistance . . 0.50539 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2515 198422 3 24184995 G A 195583 Benign Thyroid_Hormone_Resistance|not_specified 0.15362 0.15555 0.15755 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2516 344640 3 24270500 G GA 293815 Benign Thyroid_Hormone_Resistance . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2517 198889 3 25775356 A C 196049 Benign not_specified 0.82193 0.84045 0.80032 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2518 774296 3 26751736 C T 698018 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2519 344653 3 30648248 C G 290674 Benign Marfan_syndrome|Loeys-Dietz_syndrome|Thoracic_... . . 0.1262 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2520 683997 3 30691473 G A 659943 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2521 684002 3 30692219 T C 659667 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2522 684003 3 30712827 A C 659732 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2523 678626 3 30729636 G A 659737 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2524 161394 3 30733044 T A 171083 Conflicting_interpretations_of_pathogenicity Connective_tissue_disorder|Marfan_syndrome|Con... 0.00138 0.0014 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2525 344681 3 30733838 C G 293839 Benign Marfan_syndrome|Loeys-Dietz_syndrome|Thoracic_... . . 0.11482 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2526 380173 3 31641835 C A 367350 Benign not_specified 0.05462 0.06849 0.03714 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2527 683540 3 32147913 G A 659761 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2528 671016 3 32147977 T G 659862 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2529 260571 3 32181761 C T 251091 Benign/Likely_benign Brugada_syndrome|not_specified|Cardiovascular_... 0.1903 0.12859 0.14976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2530 678494 3 32187880 A G 659863 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2531 671832 3 32187943 G T 659705 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2532 671834 3 32188006 G A 659706 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2533 678496 3 32200123 A G 659770 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2534 671835 3 32200233 G A 659709 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2535 672397 3 32200913 G A 659776 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2536 344741 3 32208039 C T 289976 Likely_benign Brugada_syndrome . . 0.09365 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2537 344742 3 32208121 A C 293909 Likely_benign Brugada_syndrome . . 0.07768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2538 344745 3 32208352 C T 294385 Likely_benign Brugada_syndrome . . 0.09645 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2539 344747 3 32208431 A G 294388 Likely_benign Brugada_syndrome . . 0.59844 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2540 344750 3 32208467 T G 289987 Likely_benign Brugada_syndrome . . 0.501 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2541 344764 3 32209230 T C 289999 Likely_benign Brugada_syndrome . . 0.55431 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2542 344771 3 32209750 T C 294397 Likely_benign Brugada_syndrome . . 0.57029 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2543 344773 3 32209927 A G 290755 Likely_benign Brugada_syndrome . . 0.57029 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2544 167145 3 33055721 A G 177749 Benign not_specified 0.93264 0.98004 0.92712 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2545 558920 3 33065715 C G 549548 Likely_benign not_provided 0.01278 . 0.00359 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2546 678119 3 33093190 T C 659781 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2547 678118 3 33093628 A C 659984 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2548 677897 3 33099880 T C 659724 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2549 678493 3 33109487 T C 659990 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2550 678066 3 33110190 G T 659883 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2551 678065 3 33110656 T C 659991 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2552 92905 3 33138544 A G 98812 Benign Morquio_syndrome|GM1_gangliosidosis|not_specif... 0.88256 0.90516 0.92772 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2553 92904 3 33138549 G A 98811 Benign Morquio_syndrome|GM1_gangliosidosis|not_specif... 0.47396 . 0.43191 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2554 674862 3 33155385 T C 659728 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2555 193339 3 33155782 G A 190503 Benign Osteogenesis_imperfecta_type_7|not_specified|O... 0.125 0.21874 0.249 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2556 667634 3 33156196 T C 659729 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2557 669818 3 33160990 A ATTT 659735 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2558 195265 3 33161898 C T 192426 Benign Osteogenesis_imperfecta_type_7|not_specified|O... 0.16569 0.17037 0.28235 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2559 379754 3 33165884 T C 367110 Benign not_specified 0.00369 0.00391 0.0022 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2560 674863 3 33171659 A G 659993 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2561 259968 3 33174156 T G 251097 Benign Osteogenesis_imperfecta_type_7|not_specified|O... 0.38436 . 0.29353 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2562 259969 3 33174168 G A 251098 Benign Osteogenesis_imperfecta_type_7|not_specified|O... 0.38428 0.3751 0.29353 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2563 667635 3 33174495 A G 659995 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2564 667636 3 33174497 G GA 659740 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2565 674864 3 33175793 C A 659753 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2566 675028 3 33175854 A G 659762 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2567 344831 3 33185027 G GGAACTA 294471 Benign Osteogenesis_Imperfecta,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2568 344838 3 33185407 G A 290810 Benign Osteogenesis_Imperfecta,_Recessive . . 0.30192 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2569 344843 3 33185798 T A 293982 Benign Osteogenesis_Imperfecta,_Recessive . . 0.89597 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2570 344851 3 33186356 T C 294489 Benign Osteogenesis_Imperfecta,_Recessive . . 0.36102 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2571 344869 3 33187425 G A 290109 Benign Osteogenesis_Imperfecta,_Recessive . . 0.31989 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2572 344875 3 33187831 C T 290115 Benign Osteogenesis_Imperfecta,_Recessive . . 0.30371 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2573 89594 3 37030175 C A 95068 Benign Lynch_syndrome . . 0.40395 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2574 89600 3 37034946 G A 95074 Benign Hereditary_cancer-predisposing_syndrome|Lynch_... . . 0.32049 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2575 90024 3 37038771 C T 95498 Benign Lynch_syndrome . . 0.30871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2576 90146 3 37042960 A C 95620 Benign Lynch_syndrome . . 0.24501 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2577 90227 3 37048633 A G 95701 Benign Lynch_syndrome|not_specified . . 0.30931 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2578 36557 3 37053568 A G 45219 Benign Hereditary_cancer-predisposing_syndrome|Lynch_... 0.24297 0.23254 0.12959 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2579 90366 3 37056990 C A 95840 Benign Lynch_syndrome . . 0.30931 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2580 90368 3 37057591 C T 95842 Benign Lynch_syndrome . . 0.24501 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2581 89615 3 37062040 T C 95089 Benign Lynch_syndrome . . 0.30931 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2582 89611 3 37062959 G T 95085 Benign Lynch_syndrome . . 0.29014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2583 89625 3 37067050 A G 95099 Benign Lynch_syndrome|not_specified . . 0.24641 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2584 89773 3 37072627 A C 95247 Benign Lynch_syndrome . . 0.2532 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2585 89785 3 37078506 A G 95259 Benign Lynch_syndrome . . 0.24521 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2586 89830 3 37082874 T C 95304 Benign Lynch_syndrome . . 0.26298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2587 36542 3 37083740 A G 45204 Benign Hereditary_cancer-predisposing_syndrome|Lynch_... 0.43833 0.37125 0.3123 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2588 89983 3 37090274 C T 95457 Benign Lynch_syndrome|not_specified . . 0.30391 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2589 89585 3 37095070 C T 95059 Benign Lynch_syndrome . . 0.39697 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2590 402987 3 37535984 C G 389600 Benign not_specified 0.52045 0.57251 0.53275 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2591 402989 3 37574951 G A 389568 Benign not_specified 0.54344 0.57278 0.5591 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2592 257468 3 38519424 A G 251100 Benign Heterotaxia|Heterotaxy,_visceral,_4,_autosomal... 0.52276 0.5683 0.48043 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2593 257470 3 38521156 T C 251101 Benign Heterotaxia|Heterotaxy,_visceral,_4,_autosomal... 0.44149 0.48531 0.35643 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2594 257467 3 38524742 C T 251104 Benign Heterotaxia|Heterotaxy,_visceral,_4,_autosomal... 0.43857 0.48508 0.35324 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2595 344937 3 38525567 T C 290945 Benign Heterotaxia . . 0.35344 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2596 344939 3 38525734 C T 294052 Benign Heterotaxia . . 0.61022 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2597 344940 3 38525864 A C 290157 Benign Heterotaxia . . 0.35224 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2598 344943 3 38526166 CAA C 294576 Benign Heterotaxia . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2599 344967 3 38527215 T C 290957 Benign Heterotaxia . . 0.38578 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2600 344974 3 38527913 C T 290185 Benign Heterotaxia . . 0.61621 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2601 344981 3 38528537 G T 294662 Benign Heterotaxia . . 0.35324 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2602 344991 3 38529440 C G 294205 Benign Heterotaxia . . 0.61082 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2603 344995 3 38529818 C T 290974 Benign Heterotaxia . . 0.35324 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2604 344996 3 38529825 C T 290975 Benign Heterotaxia . . 0.32188 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2605 345010 3 38531211 T G 294237 Benign Heterotaxia . . 0.44728 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2606 345025 3 38532511 G A 294684 Benign Heterotaxia . . 0.35324 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2607 345032 3 38533335 A C 290212 Benign Heterotaxia . . 0.44728 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2608 345077 3 38590358 C CT 294718 Likely_benign Sick_sinus_syndrome|Long_QT_syndrome|Romano-Wa... . . 0.31689 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2609 345092 3 38591059 G A 291055 Likely_benign Sick_sinus_syndrome|Long_QT_syndrome|Romano-Wa... . . 0.11442 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2610 345108 3 38591689 T C 294382 Likely_benign Sick_sinus_syndrome|Long_QT_syndrome|Romano-Wa... . . 0.49441 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2611 48307 3 38592406 A G 57470 Benign/Likely_benign Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom... 0.43144 0.38781 0.49241 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2612 680772 3 38597558 A G 659791 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2613 680800 3 38598459 C T 659801 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2614 671861 3 38598956 A G 659799 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2615 680771 3 38599037 G A 659902 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2616 48297 3 38622467 T C 57460 Benign/Likely_benign Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom... 0.88497 . 0.92312 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2617 671859 3 38627629 A G 659814 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2618 671843 3 38627658 T TCCC,TCC 660041 Benign not_provided . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
2619 678034 3 38628642 A G 659913 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2620 678033 3 38628661 C A 659809 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2621 48289 3 38645420 T C 38447 Benign/Likely_benign Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom... . 0.22174 0.23043 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2622 257437 3 38646423 C T 251108 Benign not_specified 0.18485 0.21916 0.17512 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2623 678604 3 38646625 C T 659916 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2624 48280 3 38647642 G T 57444 Benign/Likely_benign Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom... 0.16642 0.17223 0.15116 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2625 671842 3 38647780 G C 659848 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2626 671841 3 38649924 T C 659919 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2627 680765 3 38654971 G A 659859 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2628 671840 3 38663707 C T 660060 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2629 671839 3 38664164 T G 660066 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2630 680768 3 38671474 C T 659824 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2631 678603 3 38671560 A G 659928 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2632 48318 3 38674712 T C 57481 Benign/Likely_benign Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom... 0.83596 0.77367 0.78175 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2633 259999 3 38739574 T C 251110 Benign Brugada_syndrome_1|not_specified . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2634 95404 3 38739845 A G 101303 Benign not_specified 0.93049 0.91991 0.92472 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2635 669293 3 38749026 T A 659827 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2636 259996 3 38766675 A G 251113 Benign not_specified 0.70252 0.65856 0.75799 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2637 259994 3 38768247 G A 251115 Benign not_specified 0.19007 0.23496 0.1905 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2638 95401 3 38768300 T C 101300 Benign not_specified 0.21029 0.24093 0.21066 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2639 669327 3 38770639 C G 660090 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2640 259993 3 38784029 T C 251116 Benign not_specified 0.69752 0.65368 0.75779 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2641 259992 3 38793989 G A 251117 Benign not_specified 0.20301 0.24302 0.20767 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2642 668846 3 38796985 A G 659958 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2643 259991 3 38798171 C T 251118 Benign not_specified 0.20237 0.23438 0.20747 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2644 669276 3 38798836 C T 659898 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2645 260000 3 38802251 A G 251119 Benign not_specified 0.30571 0.32987 0.38878 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2646 670898 3 38813009 T C 659844 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2647 260336 3 38926912 C G 251120 Benign not_specified 0.63732 0.5575 0.59944 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2648 260335 3 38936134 C T 251121 Benign not_specified 0.2046 . 0.15355 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2649 260334 3 38945560 A G 251122 Benign not_specified 0.60741 0.65145 0.61242 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2650 242801 3 39307256 C T 23191 . . . 0.22093 0.14437 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2651 721354 3 39307425 A G 734051 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2652 281680 3 39431081 G A 265917 Benign Refractory_anemia_with_ringed_sideroblasts_(cl... 0.36975 0.48199 0.41613 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2653 671096 3 39432247 C T 660003 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2654 403583 3 41841716 A C 389614 Benign not_specified 0.87704 0.85123 0.87001 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2655 403584 3 41925398 C T 389585 Benign not_specified 0.6831 0.78848 0.6885 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2656 403585 3 41925423 T C 389558 Benign not_specified 0.92384 0.97695 0.91933 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2657 403586 3 41937000 C T 389570 Benign not_specified 0.67305 0.7785 0.6881 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2658 403587 3 41938500 G C 389595 Benign not_specified 0.92411 0.97689 0.91893 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2659 403588 3 41939993 T A 389560 Benign not_specified . 0.95464 0.69808 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2660 403589 3 41957466 T G 389621 Benign not_specified 0.67557 . 0.68131 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2661 403590 3 41960006 T C 389563 Benign not_specified 0.67473 0.78474 0.67991 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2662 403591 3 41996136 T C 389597 Benign not_specified 0.67839 0.78694 0.68211 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2663 226688 3 42728144 A G 229062 Benign not_specified 0.5599 0.64885 0.6226 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2664 682890 3 42733174 G C 659937 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2665 682889 3 42733341 T C 659874 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2666 226689 3 42733468 T C 229063 Benign not_specified 0.80517 0.81677 0.89976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2667 262104 3 43121559 C T 251133 Benign not_specified 0.80432 0.78602 0.78275 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2668 262102 3 43122966 G A 251138 Benign not_specified 0.38497 . 0.45248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2669 128388 3 43591327 G A 133837 Benign/Likely_benign Spinocerebellar_ataxia,_autosomal_recessive_10... 0.05559 0.04793 0.03694 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2670 128387 3 43602803 C T 133836 Benign Spinocerebellar_ataxia,_autosomal_recessive_10... 0.5569 0.6505 0.66314 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2671 260993 3 43607136 T C 251139 Benign Spinocerebellar_ataxia,_autosomal_recessive_10... 0.52679 0.68496 0.63678 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2672 128386 3 43618280 T C 133835 Benign/Likely_benign Spinocerebellar_ataxia,_autosomal_recessive_10... 0.06797 0.05077 0.04872 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2673 345238 3 43761368 ATAG A 294528 Benign Triglyceride_storage_disease_with_ichthyosis . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2674 345240 3 43761441 A G 290409 Benign Triglyceride_storage_disease_with_ichthyosis . . 0.54872 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2675 717832 3 44828059 C T 720454 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2676 684236 3 45436473 G A 660032 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2677 684161 3 45459287 T G 660114 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2678 684169 3 45460914 T C 659941 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2679 669494 3 45461483 A G 660117 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2680 684172 3 45517799 T C 659891 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2681 676142 3 45527099 C G 660132 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2682 226691 3 45527218 T C 229072 Benign not_specified|not_provided 0.77418 0.90257 0.78295 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2683 684174 3 45527484 T C 659950 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2684 684176 3 45529865 C T 659951 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2685 226693 3 45533224 G A 229074 Benign not_specified|not_provided 0.77426 . 0.78275 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2686 226698 3 45557707 G A 229079 Benign not_specified|not_provided 0.28372 0.28568 0.24621 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2687 226700 3 45559519 T C 229082 Benign not_specified|not_provided 0.85145 0.95151 0.84944 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2688 676144 3 45559621 C T 659906 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2689 226704 3 45565554 A G 229089 Benign not_specified|not_provided 0.86868 0.95754 0.86082 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2690 684184 3 45565865 G A 660178 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2691 676145 3 45583297 C T 660184 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2692 345340 3 45796951 C T 291372 Likely_benign Hyperglycinuria . . 0.2482 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2693 345349 3 45797785 A G 290496 Likely_benign Hyperglycinuria . . 0.96406 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2694 345365 3 45798682 CTT C 291398 Likely_benign Hyperglycinuria . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2695 345374 3 45799126 C T 291401 Uncertain_significance Hyperglycinuria . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2696 345387 3 45799871 C T 294639 Likely_benign Hyperglycinuria . . 0.96346 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2697 345390 3 45799933 A G 290548 Likely_benign Hyperglycinuria . 0.1 0.04692 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2698 345420 3 45817418 A G 290570 Likely_benign Hyperglycinuria 0.96171 0.95651 0.94888 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2699 345428 3 45837886 G C 294713 Likely_benign Hyperglycinuria 0.11156 0.12786 0.08846 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2700 345435 3 45959515 A T 295094 Benign Congenital_cataract . . 0.92173 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2701 345439 3 45959759 T C 290594 Benign Congenital_cataract . . 0.40994 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2702 345443 3 45959999 TA T 295105 Benign Congenital_cataract . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2703 345445 3 45960079 C A 291474 Benign Congenital_cataract . . 0.92173 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2704 345459 3 45960851 C T 291505 Benign Congenital_cataract . . 0.39956 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2705 345469 3 45961842 C T 295130 Benign Congenital_cataract . . 0.92013 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2706 345481 3 45962595 C G 295144 Benign Congenital_cataract . . 0.38558 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2707 345484 3 45962752 T C 291519 Benign Congenital_cataract . . 0.8151 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2708 345486 3 45962802 T C 294752 Benign Congenital_cataract . . 0.94269 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2709 345487 3 45962942 C T 295148 Benign Congenital_cataract . . 0.40974 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2710 261734 3 45996761 G A 251149 Benign Congenital_cataract|not_specified|not_provided 0.77095 0.79208 0.86721 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2711 261722 3 46008790 G A 251159 Benign Congenital_cataract|not_specified|not_provided 0.33313 0.43032 0.39517 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2712 261738 3 46009864 C G 251164 Benign Congenital_cataract|not_specified|not_provided 0.44318 0.56701 0.53295 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2713 261736 3 46010077 C T 251166 Benign Congenital_cataract|not_specified|not_provided 0.83208 . 0.92812 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2714 261725 3 46016851 A T 251167 Benign Congenital_cataract|not_specified 0.32685 0.43051 0.38698 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2715 261723 3 46021218 G T 251168 Benign Congenital_cataract|not_specified|not_provided 0.65808 0.79893 0.76298 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2716 8184 3 46414943 TACAGTCAGTATCAATTCTGGAAGAATTTCCAG T 23223 Benign West_nile_virus,_susceptibility_to|Resistance_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2717 47962 3 46751073 TAAG T 57126 Benign Deafness,_autosomal_recessive_6|not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2718 345596 3 46944274 T C 295275 Benign Metaphyseal_chondrodysplasia|Chondrodysplasia 0.67969 0.61407 0.64337 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2719 260575 3 47033937 C T 251172 Benign not_specified 0.46505 0.58294 0.47224 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2720 260582 3 47043538 C T 251179 Benign Gray_platelet_syndrome|not_specified 0.45245 0.56567 0.47165 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2721 345670 3 47043730 C T 291769 Conflicting_interpretations_of_pathogenicity Gray_platelet_syndrome|not_provided 0.003 0.00566 0.0008 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2722 260584 3 47044122 A T 251181 Benign Gray_platelet_syndrome|not_specified 0.94886 0.98735 0.94928 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2723 260586 3 47045739 C G 251183 Benign Gray_platelet_syndrome|not_specified 0.4721 . 0.47205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2724 260588 3 47046842 G C 251185 Benign not_specified 0.55671 0.56113 0.54653 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2725 260589 3 47047176 A AG 251186 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2726 260590 3 47047358 A C 251187 Benign not_specified 0.23657 0.29821 0.23403 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2727 345697 3 47050908 AG A 294982 Benign Gray_platelet_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2728 436678 3 47103861 GTT G,GT 428201 Likely_benign not_specified . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
2729 135202 3 47125385 G A 138941 Benign not_specified|not_provided 0.47132 . 0.46985 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2730 475524 3 47129609 G A 452755 Benign not_provided 0.00431 0.00348 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2731 586533 3 47162661 A G 576751 Benign not_provided 0.64478 0.6343 0.67832 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2732 345769 3 48507667 T C 291833 Benign Aicardi_Goutieres_syndrome|Vasculopathy,_retin... . . 0.11482 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2733 255115 3 48602523 G GGGC 251191 Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2734 255108 3 48624611 C T 251198 Benign Dystrophic_epidermolysis_bullosa|not_specified 0.47586 0.35726 0.43051 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2735 255107 3 48625266 T C 251199 Benign Dystrophic_epidermolysis_bullosa|not_specified 0.77364 . 0.68111 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2736 255103 3 48628014 G A 251203 Benign Dystrophic_epidermolysis_bullosa|Recessive_dys... 0.10226 0.11916 0.09904 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2737 92883 3 48897078 A G 98790 Benign not_specified 0.99331 0.99135 0.99521 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2738 683820 3 48900347 G A 659914 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2739 380004 3 49137904 G T 367668 Benign not_specified 0.63402 0.73037 0.75799 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2740 380775 3 49507847 G A 367325 Benign not_specified . . 0.58287 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2741 226558 3 49548008 C G 229102 Benign Limb-girdle_muscular_dystrophy-dystroglycanopa... 0.97301 0.99231 0.96586 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2742 31753 3 49548294 T C 40413 Benign not_specified|not_provided 0.97324 0.99248 0.96586 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2743 31754 3 49568095 G A 40414 Benign not_provided . . 0.96605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2744 31757 3 49570882 T C 40417 not_provided not_provided . 0.56387 0.55411 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2745 668904 3 49761571 G A 660047 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2746 668902 3 49761605 C T 660053 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2747 668901 3 49761613 C T 659920 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2748 346060 3 50233215 T G 291130 Benign Congenital_Stationary_Night_Blindness,_Dominant . . 0.32388 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2749 346062 3 50233317 C T 295475 Benign Congenital_Stationary_Night_Blindness,_Dominant . . 0.21605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2750 346070 3 50234126 A G 292121 Benign Congenital_Stationary_Night_Blindness,_Dominant . . 0.59385 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2751 7091 3 50649499 A T 22130 Affects,_risk_factor Tuberculosis,_susceptibility_to|Susceptibility... . . 0.71985 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2752 478413 3 52378540 G C 452896 Benign SPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p... 0.03564 0.03595 0.03055 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2753 478430 3 52383340 C T 452892 Benign SPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p... 0.03565 0.03465 0.02776 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2754 402598 3 52391735 A C 389573 Benign not_specified 0.18507 0.18817 0.16114 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2755 402599 3 52400740 G C 389631 Benign not_specified 0.18652 . 0.15296 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2756 478382 3 52426884 C T 453030 Benign SPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p... 0.03923 . 0.02995 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2757 478396 3 52429665 C T 453316 Benign SPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p... 0.03931 0.03811 0.02995 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2758 402605 3 52430698 A G 389649 Benign not_specified 0.99549 . 0.99641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2759 346111 3 52435860 G A 292135 Likely_benign Tumor_susceptibility_linked_to_germline_BAP1_m... . . 0.02816 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2760 676905 3 52441606 A T 660247 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2761 671944 3 52488202 C T 660250 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2762 716630 3 52514271 C T 720568 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2763 346142 3 53123032 C T 292152 Benign Congenital_disorder_of_glycosylation . . 0.71845 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2764 346143 3 53123079 A T 295729 Likely_benign Congenital_disorder_of_glycosylation . . 0.16993 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2765 346172 3 53125297 G C 295628 Likely_benign Congenital_disorder_of_glycosylation . . 0.16693 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2766 346174 3 53125429 A T 295786 Likely_benign Congenital_disorder_of_glycosylation . . 0.14796 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2767 346175 3 53125469 G A 291224 Benign Congenital_disorder_of_glycosylation . . 0.65076 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2768 440191 3 53220000 A G 433862 Conflicting_interpretations_of_pathogenicity not_provided 0.001 0.00089 . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2769 403345 3 53220215 G A 390582 Benign not_specified 0.29671 0.27574 0.28215 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2770 403346 3 53222761 C T 390583 Benign not_specified 0.75827 0.74805 0.71346 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2771 403347 3 53223927 C G 390584 Benign not_specified 0.93349 0.96547 0.90196 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2772 403348 3 53224002 T C 390585 Benign not_specified 0.93926 0.98348 0.9405 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2773 518347 3 53766026 T C 508788 Benign Sinoatrial_node_dysfunction_and_deafness 0.86706 0.88867 0.91094 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2774 226470 3 53769479 C T 229117 Benign Sinoatrial_node_dysfunction_and_deafness|not_s... 0.2545 0.29936 0.19229 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2775 346219 3 55500700 A G 295678 Benign Robinow_syndrome,_autosomal_dominant_1 . . 0.0643 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2776 346220 3 55500924 TG T 292266 Benign Robinow_syndrome,_autosomal_dominant_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2777 346223 3 55501002 G C 291265 Benign Robinow_syndrome,_autosomal_dominant_1 . . 0.80951 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2778 346235 3 55501843 C CA 292289 Benign Robinow_syndrome,_autosomal_dominant_1 . . 0.13059 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2779 346242 3 55502251 G A 295824 Benign Robinow_syndrome,_autosomal_dominant_1 . . 0.1232 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2780 346260 3 55503309 AT A 295848 Benign Robinow_syndrome,_autosomal_dominant_1 . . 0.1228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2781 402505 3 56591278 T TGGGGTAAGCA 390507 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2782 402630 3 57335876 C T 389587 Benign not_specified 0.57687 0.61841 0.66514 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2783 402631 3 57386148 C G 390439 Benign not_specified 0.19329 0.29934 0.27736 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2784 402632 3 57388114 C T 390440 Benign not_specified 0.55694 0.53665 0.58646 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2785 402633 3 57414071 G A 389575 Benign not_specified . 0.54425 0.59045 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2786 402635 3 57414434 A G 389613 Benign not_specified 0.20894 0.31811 0.29992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2787 402636 3 57419497 C T 389577 Benign not_specified 0.4021 0.50071 0.40415 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2788 402637 3 57430988 G A 389618 Benign not_specified 0.4286 0.52935 0.42093 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2789 402638 3 57431985 G A 389622 Benign not_specified 0.43408 0.53725 0.42512 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2790 402639 3 57443817 T C 389580 Benign not_specified 0.6682 0.71851 0.63239 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2791 402640 3 57456371 T C 389593 Benign not_specified 0.66842 0.71653 0.63159 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2792 402641 3 57469097 C T 389651 Benign not_specified 0.659 0.71297 0.63159 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2793 402642 3 57475351 T G 389594 Benign not_specified 0.66864 . 0.63359 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2794 516749 3 57882601 C T 500813 Benign not_specified 0.21083 0.29594 0.29952 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2795 683067 3 57994719 T A 660265 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2796 670721 3 58063303 G C 659986 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2797 671372 3 58063309 G C 660063 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2798 671375 3 58063331 C T 659987 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2799 683105 3 58108515 T C 659944 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2800 683107 3 58108551 T C 659947 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2801 258106 3 58109162 G A 251255 Benign/Likely_benign not_specified|FLNB-Related_Spectrum_Disorders 0.30063 0.37322 0.54613 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2802 671078 3 58109748 T A 659949 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2803 671079 3 58109772 A G 659954 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2804 671095 3 58111761 G A 660007 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2805 671101 3 58112062 G A 660009 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2806 258110 3 58112440 A G 251258 Benign/Likely_benign not_specified|FLNB-Related_Spectrum_Disorders 0.72559 0.7079 0.83327 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2807 258111 3 58112488 C T 251259 Benign/Likely_benign not_specified|FLNB-Related_Spectrum_Disorders 0.40243 0.40909 0.64856 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2808 671102 3 58116316 A G 660281 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2809 683109 3 58117375 T G 660013 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2810 258114 3 58118555 G A 251262 Benign/Likely_benign not_specified|FLNB-Related_Spectrum_Disorders 0.35999 0.39517 0.60823 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2811 671106 3 58118935 A G 660107 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2812 683137 3 58122160 T C 660112 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2813 258119 3 58145263 G A 251266 Benign not_specified 0.62725 0.66979 0.7486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2814 258122 3 58154327 C T 251269 Benign/Likely_benign not_specified|FLNB-Related_Spectrum_Disorders 0.33677 0.3852 0.57129 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2815 683176 3 58154671 T C 660026 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2816 683177 3 58156176 G A 660031 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2817 346385 3 58157519 G C 295902 Likely_benign FLNB-Related_Spectrum_Disorders . . 0.69309 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2818 346397 3 58413405 T C 295906 Benign Pyruvate_dehydrogenase_complex_deficiency . 0.48887 0.36741 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2819 346398 3 58413408 A G 295935 Benign Pyruvate_dehydrogenase_complex_deficiency . . 0.1847 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2820 346399 3 58413465 G C 292522 Benign Pyruvate_dehydrogenase_complex_deficiency . 0.79502 0.74181 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2821 346400 3 58413518 T G 292523 Benign Pyruvate_dehydrogenase_complex_deficiency . 0.29444 0.20048 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2822 346402 3 58413662 G A 291384 Benign Pyruvate_dehydrogenase_complex_deficiency . 0.40836 0.36721 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2823 346403 3 58413669 G T 295938 Benign Pyruvate_dehydrogenase_complex_deficiency . . 0.20467 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2824 669536 3 58415263 T A 660122 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2825 129880 3 58416535 C T 135326 Benign Pyruvate_dehydrogenase_complex_deficiency|not_... 0.06605 0.28318 0.20467 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2826 559256 3 58416538 T C 549911 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2827 669535 3 58417014 G A 660124 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2828 128518 3 63982082 G A 133967 Likely_benign not_specified 0.39069 . 0.4377 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2829 346415 3 64079930 C T 295948 Benign Progressive_myoclonic_epilepsy . . 0.88099 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2830 346417 3 64079994 C T 291387 Benign Progressive_myoclonic_epilepsy . . 0.88139 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2831 346422 3 64080489 G A 291393 Likely_benign Progressive_myoclonic_epilepsy . . 0.10463 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2832 346436 3 64081930 T A 292571 Likely_benign Progressive_myoclonic_epilepsy . . 0.14377 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2833 346438 3 64081955 T C 291405 Benign Progressive_myoclonic_epilepsy . . 0.91194 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2834 346439 3 64082003 G T 292572 Likely_benign Progressive_myoclonic_epilepsy . . 0.09485 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2835 346451 3 64083122 A C 295958 Benign Progressive_myoclonic_epilepsy . . 0.91214 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2836 130035 3 64133182 G A 135481 Likely_benign Progressive_myoclonic_epilepsy|not_specified 0.06889 0.06556 0.05471 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2837 130137 3 64133350 A G 135584 Benign Progressive_myoclonic_epilepsy|not_specified|E... 0.98447 0.99453 0.98383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2838 162162 3 64705365 C T 171875 not_provided not_provided . . 0.71326 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2839 683875 3 66270951 G C 659999 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2840 683876 3 66270961 C T 660000 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2841 683906 3 66396845 G A 660057 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2842 672597 3 66396898 G GAAGAGTAGA 660333 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2843 683910 3 66413111 G T 660338 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2844 683922 3 66413130 T A 660064 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2845 671598 3 66419883 T C 660033 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2846 683936 3 66419956 C T 655577 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2847 683946 3 66427885 A G 660149 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2848 403054 3 66433676 A G 389634 Benign not_specified 0.60857 0.62275 0.69449 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2849 403055 3 66434643 T C 389637 Benign not_specified 0.23028 0.31331 0.36222 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2850 403057 3 66550756 G C 389598 Benign not_specified 0.81479 0.91703 0.71985 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2851 403058 3 66550762 G C 389599 Benign not_specified 0.8116 0.91787 0.71985 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2852 683801 3 69054341 T C 655578 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2853 683791 3 69058783 C T 660085 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2854 346554 3 71004721 G GT 296049 Benign Intellectual_Disability_with_Language_Impairme... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2855 346618 3 71007361 G T 296140 Benign Intellectual_Disability_with_Language_Impairme... . . 0.73862 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2856 96228 3 71015021 G T 102122 Benign not_specified 0.94126 0.94518 0.97464 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2857 346653 3 71408319 C T 296189 Benign Intellectual_Disability_with_Language_Impairme... . . 0.1224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2858 346667 3 77089395 T C 296180 Benign Vesicoureteral_reflux . . 0.48682 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2859 346732 3 77696422 C T 296283 Benign Vesicoureteral_reflux . . 0.57788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2860 346754 3 77697943 G A 296295 Benign Vesicoureteral_reflux . . 0.68311 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2861 346763 3 77698442 G A 296254 Benign Vesicoureteral_reflux . . 0.58247 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2862 346781 3 81539382 C T 293004 Benign Glycogen_storage_disease,_type_IV|Polyglucosan... . . 0.30911 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2863 197636 3 81698130 T C 194797 Benign Glycogen_storage_disease,_type_IV|Polyglucosan... 0.29322 0.3746 0.32149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2864 98000 3 87295049 T C 103892 Benign Frontotemporal_dementia|not_specified|not_prov... 0.82031 0.90601 0.8157 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2865 346829 3 87308831 C T 291712 Benign Frontotemporal_dementia|Combined_Pituitary_Hor... . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2866 346833 3 87308904 T A 291719 Benign/Likely_benign Frontotemporal_dementia|Combined_Pituitary_Hor... . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2867 346836 3 87308905 A T 291720 Benign/Likely_benign Frontotemporal_dementia|Combined_Pituitary_Hor... . . 0.17512 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2868 346871 3 93592569 T G 296359 Likely_benign Protein_S_deficiency . . 0.76038 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2869 255811 3 93593119 T C 251293 Benign/Likely_benign Protein_S_deficiency|not_specified|not_provided 0.32116 0.42683 0.38518 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2870 128452 3 93768268 C G 133901 Benign/Likely_benign Joubert_syndrome|Joubert_syndrome_8|not_specif... 0.08696 0.10097 0.07768 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2871 346944 3 97517118 G C 296459 Benign Bardet-Biedl_syndrome|Retinitis_Pigmentosa,_Re... . . 0.95787 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2872 769275 3 97594261 G A 698308 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2873 769276 3 97595379 G A 698309 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2874 346955 3 98298600 C T 293139 Benign Hereditary_coproporphyria . . 0.3153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2875 346958 3 98298948 T TTAAGAA 293174 Benign Hereditary_coproporphyria . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2876 346967 3 98299365 T G 296499 Benign Hereditary_coproporphyria . . 0.32987 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2877 346977 3 98304467 T C 296501 Benign Hereditary_coproporphyria 0.74389 0.70652 0.75399 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2878 346979 3 98307696 T G 296470 Benign Hereditary_coproporphyria|Acute_Porphyria 0.23835 0.17413 0.24581 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2879 670587 3 100428460 G C 655490 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2880 670746 3 100439124 TG T 659417 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2881 667550 3 100455139 T C 659419 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2882 670747 3 100455609 TG T 659422 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2883 440333 3 100467018 T C 433969 Benign not_specified 0.65508 0.69927 0.71306 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2884 342277 3 100942033 A T 291465 Benign Retinitis_Pigmentosa,_Recessive . . 0.8129 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2885 342299 3 100944076 A G 291657 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.13578 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2886 342302 3 100944224 T C 287878 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.13718 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2887 342308 3 100944932 A G 287884 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.13718 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2888 342316 3 100945245 G T 291663 Benign Retinitis_Pigmentosa,_Recessive . . 0.8129 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2889 342324 3 100945433 G T 287897 Benign Retinitis_Pigmentosa,_Recessive . . 0.83806 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2890 342337 3 100949842 G A 291531 Benign Retinitis_Pigmentosa,_Recessive 0.79548 0.79106 0.8129 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2891 342514 3 111260975 C T 288051 Benign C_syndrome . . 0.45887 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2892 342543 3 111356083 G C 288080 Benign C_syndrome 0.99539 0.99882 0.99661 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2893 342562 3 111369473 A G 291866 Benign C_syndrome . . 0.90615 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2894 342574 3 111370206 C T 291888 Benign C_syndrome . . 0.94189 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2895 774846 3 112732195 C T 697754 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2896 342598 3 113858350 C T 291920 Likely_benign Hereditary_Essential_Tremor 0.95733 . 0.95787 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2897 512983 3 113876275 G A 500408 Benign not_specified . . 0.58866 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2898 16770 3 113890815 C T 31809 Likely_benign Essential_tremor,_susceptibility_to|Schizophre... . 0.65683 0.51358 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2899 342620 3 119013558 G A 288882 Benign Adams-Oliver_syndrome . . 0.30371 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2900 342622 3 119013603 G A 288132 Likely_benign Adams-Oliver_syndrome . . 0.00919 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2901 342639 3 119118104 A G 291961 Benign Adams-Oliver_syndrome . 0.99996 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2902 342649 3 119128398 G A 291872 Benign Adams-Oliver_syndrome 0.15786 0.17061 0.1877 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2903 342658 3 119133183 G A 291972 Benign Adams-Oliver_syndrome|not_specified 0.83161 0.80828 0.84565 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2904 342688 3 119136096 A AC 291989 Benign Adams-Oliver_syndrome . . 0.78035 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2905 342723 3 119137855 A G 288237 Benign Adams-Oliver_syndrome . . 0.76118 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2906 255481 3 120389316 T A 250852 Benign Alkaptonuria|not_specified 0.74342 0.73533 0.73163 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2907 780030 3 121208887 T G 708494 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2908 342768 3 121488995 C G 288275 Benign Renal_dysplasia_and_retinal_aplasia . . 0.62121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2909 257092 3 121489439 TA T 250853 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2910 257090 3 121500699 C T 250855 Benign Renal_dysplasia_and_retinal_aplasia|Senior-Lok... 0.23704 0.28893 0.30272 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2911 198444 3 121526204 G A 195605 Benign Renal_dysplasia_and_retinal_aplasia|not_specif... 0.65249 0.62748 0.62001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2912 342784 3 121553852 GCTCCCA G 292112 Benign Renal_dysplasia_and_retinal_aplasia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2913 44141 3 121712051 A C 53309 Benign not_specified 0.74781 0.73945 0.78494 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2914 44145 3 121712805 G C 53313 Benign not_specified 0.30855 . 0.35204 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2915 35799 3 121976253 G A 44463 Benign Familial_hypocalciuric_hypercalcemia|not_speci... 0.91235 0.94371 0.92193 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2916 166798 3 122003045 G C 177553 Benign not_specified 0.97201 0.9916 0.97284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2917 166799 3 122003832 G C 177554 Benign not_specified 0.91781 0.94463 0.92412 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2918 342806 3 122004098 A T 288311 Benign Hypocalcemia|Familial_hypocalciuric_hypercalce... . . 0.92013 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2919 342809 3 122004218 T TA 292174 Benign Hypocalcemia|Familial_hypocalciuric_hypercalce... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2920 342810 3 122004612 C G 292175 Benign Hypocalcemia|Familial_hypocalciuric_hypercalce... . . 0.96865 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2921 342815 3 122005053 A G 288319 Benign Hypocalcemia|Familial_hypocalciuric_hypercalce... . . 0.18151 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2922 342820 3 122005236 T C 292050 Benign Hypocalcemia|Familial_hypocalciuric_hypercalce... . . 0.53315 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2923 801997 3 123047666 A G 790321 Benign Dyskinesia,_familial,_with_facial_myokymia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2924 342823 3 123331143 T C 292195 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7|Thoracic_... . . 0.44409 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2925 342845 3 123332186 A AT 292071 Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2926 342849 3 123332340 G T 289127 Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection . . 0.49561 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2927 342853 3 123332546 C G 288338 Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection . . 0.35164 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2928 226771 3 123357037 A G 228984 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection... 0.19791 0.21825 0.3744 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2929 226770 3 123368013 A G 228986 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection... 0.22459 0.23037 0.39617 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2930 226764 3 123411589 G A 228992 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7|Thoracic_... 0.56336 0.57832 0.33267 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2931 194903 3 123418913 G A 192065 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7|Thoracic_... 0.94164 0.98242 0.94788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2932 226757 3 123440967 G A 229000 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7|Thoracic_... 0.9088 0.97219 0.91354 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2933 409695 3 123444833 C T 393266 Conflicting_interpretations_of_pathogenicity Connective_tissue_disorder|not_specified|Cardi... 0.00023 0.00039 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2934 226755 3 123451773 G C 229002 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7|Thoracic_... 0.99862 0.99962 0.999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2935 226753 3 123452838 G A 229004 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7|Thoracic_... 0.57435 0.65665 0.63279 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2936 198606 3 123457893 G A 195767 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7|Thoracic_... 0.87244 0.9445 0.85623 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2937 342911 3 123550463 G A 292179 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_7|Thoracic_... . . 0.14597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2938 342913 3 123595432 G A 292298 Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection . . 0.66973 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2939 100124 3 124449209 A G 106001 Benign Orotic_aciduria|not_provided . 0.60341 0.5591 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2940 100125 3 124449252 T C 106002 Benign Orotic_aciduria|not_provided . . 0.46146 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2941 100126 3 124449291 A G 106003 Benign Orotic_aciduria|not_provided 0.52876 0.59686 0.5601 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2942 100128 3 124458816 C G 106005 not_provided not_provided . . 0.64717 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2943 100130 3 124462710 G C 106007 not_provided not_provided 0.24904 . 0.24281 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2944 342942 3 124463657 C T 289191 Benign Orotic_aciduria . 0.46956 0.53455 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2945 342953 3 124464142 C A 288466 Benign Orotic_aciduria . 0.2609 0.27176 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2946 342954 3 124464215 AT A 288468 Benign Orotic_aciduria . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2947 342965 3 124464642 T G 288478 Benign Orotic_aciduria . 0.22927 0.24481 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2948 343011 3 124466520 C T 292236 Benign Orotic_aciduria . 0.22879 0.24201 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2949 343021 3 124467069 T G 292369 Benign Orotic_aciduria . 0.93886 0.96246 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2950 343027 3 124467209 G A 289269 Benign Orotic_aciduria . 0.22873 0.24261 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2951 343028 3 124467247 C A 288507 Benign Orotic_aciduria . 0.27821 0.34505 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2952 508098 3 127323830 C T 500279 Benign not_specified 0.677 0.68464 0.59605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2953 508099 3 127336934 A G 500057 Benign not_specified 0.82262 0.75523 0.78994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2954 539725 3 128200459 T C 518873 Benign not_provided . . 0.6901 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2955 257563 3 128205860 G C 250906 Benign Lymphedema,_primary,_with_myelodysplasia|not_s... 0.6934 0.69432 0.70986 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2956 343167 3 128532454 A G 292548 Likely_benign Charcot-Marie-Tooth_disease,_type_2 . . 0.05152 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2957 343189 3 128598469 CGT C 292405 Benign Acyl-CoA_dehydrogenase_family,_member_9,_defic... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2958 682733 3 128612113 A C 659485 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2959 677920 3 128612659 G C 659489 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2960 682734 3 128612830 C A 659490 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2961 166634 3 128614133 C T 177459 Benign not_specified 0.58089 0.5437 0.65815 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2962 166635 3 128614185 A C 177460 Benign Acyl-CoA_dehydrogenase_family,_member_9,_defic... 0.45025 0.4018 0.54333 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2963 673569 3 128614563 T TCTC 659496 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2964 677923 3 128624772 T C 659587 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2965 677924 3 128625318 C T 659506 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2966 166636 3 128627021 A G 177461 Benign Acyl-CoA_dehydrogenase_family,_member_9,_defic... 0.43411 0.37515 0.51817 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2967 677925 3 128627623 G A 659494 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2968 343203 3 128627933 C T 292606 Benign Acyl-CoA_dehydrogenase_family,_member_9,_defic... 0.23443 0.25331 0.3103 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2969 262267 3 129195663 C T 250914 Benign not_specified 0.11226 0.08051 0.1228 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2970 194901 3 129210977 G C 192063 Benign Cranioectodermal_dysplasia_1|Cranioectodermal_... 0.38359 . 0.53654 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2971 256383 3 129247551 A G 250919 Benign not_specified|Congenital_Stationary_Night_Blin... 0.37929 0.2869 0.52836 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2972 343286 3 129252685 AT A 292690 Benign Congenital_Stationary_Night_Blindness,_Dominan... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2973 343302 3 129253473 A G 288745 Benign Congenital_Stationary_Night_Blindness,_Dominan... . . 0.52097 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2974 343303 3 129253486 T C 289494 Benign Congenital_Stationary_Night_Blindness,_Dominan... . . 0.10963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2975 260113 3 129695538 C T 250924 Benign not_specified 0.95302 0.9868 0.95767 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2976 260116 3 129695954 T C 250926 Benign not_specified 0.95283 0.98699 0.95807 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2977 260117 3 129696041 A G 250927 Benign not_specified 0.9526 0.98673 0.95807 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2978 678513 3 131217318 G A 659606 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2979 678512 3 131219070 C T 659515 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2980 801355 3 132360883 C T 789736 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2981 667679 3 132424780 A G 659519 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2982 343422 3 133465283 A G 288854 Benign Atransferrinemia 0.57509 0.62293 0.66613 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2983 12617 3 133494354 C T 27656 Benign Alzheimer_disease,_susceptibility_to|Transferr... . 0.16016 0.15635 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2984 128712 3 134225969 T C 134161 Benign not_specified 0.14555 0.17276 0.17193 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2985 128706 3 134266321 A G 134155 Benign not_specified 0.33838 0.29862 0.27676 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2986 210701 3 134277195 A AT 207051 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2987 683365 3 135968828 G C 659538 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2988 93231 3 136002809 T C 99138 Benign not_specified|not_provided 0.16846 0.16078 0.10903 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2989 256376 3 136035737 A G 250958 Benign not_specified 0.3889 0.30454 0.28634 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2990 683376 3 136036226 A G 659731 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2991 683379 3 136047977 A G 659636 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2992 403245 3 138033181 C T 389543 Benign not_specified 0.66692 0.71418 0.70208 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2993 682637 3 139069523 CG C 659739 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2994 678136 3 139069569 T C 659742 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2995 678010 3 139070112 A G 659550 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2996 93669 3 142168331 C T 99572 Benign/Likely_benign Seckel_syndrome|not_specified|not_provided 0.89782 0.86461 0.91633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
2997 136470 3 142178144 C T 140173 Benign/Likely_benign Seckel_syndrome|not_specified|not_provided 0.13417 0.13279 0.10224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2998 157998 3 142215171 T C 167845 Likely_benign not_specified 0.00262 0.05942 . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
2999 157997 3 142215178 A C 167844 Likely_benign not_specified 0.61402 . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3000 678106 3 142221956 A G 659595 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3001 678204 3 142222074 C T 659596 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3002 157992 3 142222284 A G 167839 Benign/Likely_benign Seckel_syndrome|not_specified|not_provided 0.34957 0.36398 0.3125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3003 670441 3 142230846 A G 659580 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3004 668021 3 142232743 A T 659675 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3005 678105 3 142233990 T C 659793 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3006 678104 3 142234589 C A 659797 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3007 157979 3 142255090 T C 167826 Benign not_specified|not_provided 0.14396 0.13738 0.11721 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3008 668020 3 142271797 A C 659603 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3009 670440 3 142272314 G A 659681 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3010 670439 3 142273032 T C 659804 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3011 678202 3 142274534 C T 659688 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3012 157967 3 142277427 A G 167814 Likely_benign not_specified 0.14019 0.07452 0.11222 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3013 157966 3 142277536 A G 167813 Benign Seckel_syndrome|not_specified 0.34576 0.3516 0.3107 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3014 157965 3 142277575 A T 167812 Benign/Likely_benign Seckel_syndrome|not_specified|not_provided 0.663 0.55293 0.59804 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3015 668019 3 142279796 T C 659605 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3016 680033 3 142280923 G GT 659690 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3017 680032 3 142280925 G GT 659691 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3018 93668 3 142281612 A G 99571 Benign/Likely_benign Seckel_syndrome|not_specified 0.66231 0.55398 0.59744 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3019 379454 3 143293012 A G 368245 Benign not_specified 0.29479 0.28824 0.34066 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3020 343635 3 145787657 G A 289787 Likely_benign Bruck_Syndrome . . 0.12041 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3021 343643 3 145788467 T C 289052 Benign Bruck_Syndrome 0.51839 0.50306 0.51118 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3022 674931 3 145788803 T C 659584 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3023 684306 3 145794325 T TGCTAAACTAATTTA 659585 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3024 684304 3 145795419 G C 659592 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3025 674929 3 145795559 A G 659594 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3026 263073 3 145796891 T C 250976 Benign Bruck_Syndrome|Bruck_syndrome_2|not_specified 0.25227 0.2709 0.2484 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3027 674928 3 145803138 T C 659805 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3028 674927 3 145803142 T A 659811 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3029 674926 3 145804524 C A 659718 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3030 684301 3 145809329 T C 659719 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3031 674925 3 145809750 T C 659611 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3032 684290 3 145810011 A C 659614 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3033 684289 3 145821806 A G 659816 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3034 671512 3 145824025 T C 659615 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3035 674924 3 145824478 A G 659599 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3036 674923 3 145824504 G A 659600 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3037 674922 3 145828256 G GT 659610 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3038 684286 3 145828524 G A 659818 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3039 263074 3 145838895 C T 250977 Benign Bruck_Syndrome|Bruck_syndrome_2|not_specified 0.78256 0.76661 0.78175 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3040 674921 3 145841854 T C 659733 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3041 256759 3 148459395 C T 250978 Benign Renal_dysplasia|not_specified 0.38152 0.48371 0.45807 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3042 256758 3 148459884 A G 250979 Benign Renal_dysplasia|not_specified 0.12348 0.06553 0.10683 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3043 343683 3 148460339 G T 293169 Likely_benign Renal_dysplasia . . 0.05771 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3044 343686 3 148460700 G A 289075 Benign Renal_dysplasia . . 0.67073 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3045 676130 3 148726933 G A 659747 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3046 379980 3 148727133 G A 368262 Benign not_specified|not_provided 0.29433 0.31249 0.30132 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3047 163668 3 148872987 G A 173759 Benign Hermansky-Pudlak_syndrome|not_specified 0.51392 0.45662 0.49022 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3048 343736 3 148890344 G A 289092 Likely_benign Hermansky-Pudlak_syndrome|Deficiency_of_ferrox... . . 0.02296 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3049 284863 3 148899824 G C 269100 Conflicting_interpretations_of_pathogenicity not_specified|not_provided 0.00454 0.00381 0.0024 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3050 198992 3 148916235 T A 196152 Benign not_specified 0.85587 0.91649 0.86222 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3051 343801 3 150644839 T G 289917 Likely_benign Retinitis_pigmentosa-deafness_syndrome|Retinit... . 0.07225 0.15475 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3052 343804 3 150645351 G A 289139 Benign Retinitis_pigmentosa-deafness_syndrome|Retinit... . 0.60375 0.77776 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3053 343805 3 150645408 G A 289140 Benign Retinitis_pigmentosa-deafness_syndrome|Retinit... . 0.62928 0.77676 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3054 678799 3 150646230 A G 659832 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3055 672425 3 150646279 A T 659843 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3056 678775 3 150661472 A T 659625 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3057 678774 3 150661495 T C 659617 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3058 343818 3 150690566 T C 289938 Likely_benign Retinitis_pigmentosa-deafness_syndrome|Retinit... . 0.55 0.46925 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3059 261633 3 151056598 A C 250982 Benign not_specified 0.87883 0.8703 0.91154 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3060 774172 3 155200461 G A 697905 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3061 343890 3 155572129 C T 293068 Benign Spastic_paraplegia,_autosomal_dominant . . 0.48942 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3062 669743 3 158362038 G T 659759 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3063 343919 3 158362441 T C 293119 Benign Combined_oxidative_phosphorylation_deficiency|... 0.599 0.63018 0.58307 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3064 343925 3 158366900 G A 289259 Benign Combined_oxidative_phosphorylation_deficiency_... 0.59842 0.54671 0.58327 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3065 669751 3 158371406 G A 659647 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3066 669753 3 158383882 T C 659894 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3067 343938 3 158409262 C T 290043 Benign Combined_oxidative_phosphorylation_deficiency|... 0.44909 0.3657 0.40915 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3068 343940 3 158409482 C T 293575 Benign Combined_oxidative_phosphorylation_deficiency . . 0.58327 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3069 343946 3 158409947 T A 293593 Benign Combined_oxidative_phosphorylation_deficiency . . 0.40915 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3070 215529 3 159976432 G GA 212292 Conflicting_interpretations_of_pathogenicity Jeune_thoracic_dystrophy|not_specified|not_pro... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3071 344048 3 164764719 C A 290170 Benign Sucrase-isomaltase_deficiency 0.55943 . 0.60863 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3072 344054 3 164773057 G A 293693 Benign Sucrase-isomaltase_deficiency 0.56197 0.61376 0.61901 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3073 344059 3 164777677 T G 290175 Benign Sucrase-isomaltase_deficiency 0.56066 0.61384 0.61721 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3074 344065 3 164783165 T C 289400 Benign Sucrase-isomaltase_deficiency 0.5582 0.61353 0.61601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3075 344073 3 164786629 TA T 289414 Benign Sucrase-isomaltase_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3076 344079 3 165490876 G GA 289421 Benign Deficiency_of_butyrylcholine_esterase . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3077 13220 3 165491280 C T 28259 Likely_benign Butyrylcholinesterase_activity|Deficiency_of_b... . 0.18912 0.15855 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3078 590668 3 167452504 A G 581313 Benign not_specified . . 0.28594 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3079 344118 3 167506937 C G 293751 Benign Encephalopathy,_familial,_with_neuroserpin_inc... 0.12556 0.09793 0.11422 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3080 344120 3 167506967 A G 290239 Benign Encephalopathy,_familial,_with_neuroserpin_inc... 0.12548 0.09799 0.11422 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3081 344130 3 167510472 G A 293763 Benign Encephalopathy,_familial,_with_neuroserpin_inc... 0.12556 0.09846 0.11502 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3082 344137 3 170714435 G A 290253 Benign Fanconi-Bickel_syndrome . . 0.1859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3083 344138 3 170714470 A T 293768 Benign Fanconi-Bickel_syndrome . . 0.20068 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3084 130348 3 170715830 G A 135795 Benign Fanconi-Bickel_syndrome|not_specified|not_prov... 0.39643 . 0.3726 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3085 255900 3 170723276 G A 251003 Benign Fanconi-Bickel_syndrome|not_specified|not_prov... 0.22197 0.15014 0.19928 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3086 130349 3 170732300 G A 135796 Benign Fanconi-Bickel_syndrome|not_specified|not_prov... 0.23966 0.15396 0.21526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3087 344182 3 172161842 C A 293372 Benign Short_stature,_idiopathic,_autosomal . . 0.8143 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3088 344186 3 172162117 G T 289521 Benign Short_stature,_idiopathic,_autosomal . . 0.58866 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3089 344196 3 172162829 G A 290310 Benign Short_stature,_idiopathic,_autosomal . . 0.58886 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3090 344197 3 172162837 T C 293388 Benign Short_stature,_idiopathic,_autosomal . . 0.81909 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3091 263109 3 172166033 G A 251010 Benign Short_stature,_idiopathic,_autosomal|not_speci... 0.63688 0.65548 0.54014 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3092 698146 3 172166060 G A 686364 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3093 344204 3 172631512 G A 289538 Uncertain_significance Spermatogenic_Failure 0.01807 0.02006 0.00938 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3094 344216 3 172766822 G A 293864 Likely_benign Spermatogenic_Failure 0.17484 0.15818 0.17153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3095 259957 3 178922274 C A 251012 Benign not_specified 0.66973 0.5614 0.58467 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3096 223907 3 178938153 A G 225635 Likely_benign Hereditary_cancer-predisposing_syndrome . . 0.00819 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3097 344243 3 180332164 G T 293875 Uncertain_significance Primary_ciliary_dyskinesia . . 0.00419 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3098 162839 3 180334623 C T 173902 Benign/Likely_benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.1818 0.17643 0.13139 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3099 344267 3 180365043 T TA 289573 Benign/Likely_benign Primary_ciliary_dyskinesia|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3100 162842 3 180365956 G A 173763 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.34692 . 0.31889 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3101 684210 3 182733547 T C 659654 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3102 684209 3 182735311 C T 659897 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3103 684207 3 182738287 G A 659663 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3104 684206 3 182743267 C A 659772 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3105 95941 3 182755209 T G 101837 Benign 3-MCC_Deficiency|3_Methylcrotonyl-CoA_carboxyl... 0.58481 0.62485 0.46486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3106 684205 3 182757178 T C 659773 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3107 684202 3 182759755 C T 659668 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3108 684201 3 182763016 C T 659679 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3109 684200 3 182763580 G A 659778 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3110 684198 3 182775397 C T 659903 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3111 684197 3 182789367 T C 659783 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3112 95943 3 182790249 G A 101839 Benign 3-MCC_Deficiency|not_specified 0.88534 0.92974 0.91554 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3113 802031 3 182810144 T G 790368 Benign 3_Methylcrotonyl-CoA_carboxylase_1_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3114 344318 3 182817328 C G 289643 Benign 3-MCC_Deficiency . . 0.54493 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3115 94381 3 183861243 A G 100281 Benign Leukoencephalopathy_with_vanishing_white_matte... 0.32816 0.34983 0.38998 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3116 344343 3 183863084 AAG A 289663 Benign Leukoencephalopathy_with_vanishing_white_matter . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3117 518344 3 184039666 A G 508785 Benign Parkinson_disease_18 0.82093 0.75539 0.78235 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3118 518346 3 184045799 A G 508787 Benign Parkinson_disease_18 0.81224 0.75821 0.78694 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3119 217776 3 184071063 G C 214425 Uncertain_significance Leukoencephalopathy_with_ataxia 0.5938 . 0.46126 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3120 344369 3 184090266 C T 289675 Benign Thrombocythemia_1 0.67008 . 0.64058 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3121 344376 3 184094183 A G 290439 Benign Thrombocythemia_1 . . 0.50679 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3122 595004 3 184910992 A G 586066 Likely_benign not_specified . 0.00019 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3123 2435 3 185511687 G T 17474 risk_factor Diabetes_mellitus_type_2 . . 0.38898 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3124 16045 3 186332571 G A 31084 Benign Leanness,_susceptibility_to . . 0.67732 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3125 16043 3 186337713 T C 31082 Benign Leanness,_susceptibility_to . 0.68304 0.73542 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3126 16044 3 186338382 G C 31083 Benign Leanness,_susceptibility_to . 0.67668 0.71366 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3127 403021 3 186461524 C T 389540 Benign not_specified 0.02038 . 0.02416 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3128 791576 3 187387022 T G 708725 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3129 344379 3 189349247 A T 294093 Benign Ectrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos... 0.45839 . 0.48762 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3130 802034 3 189507518 C CAGAG 790371 Likely_benign Ectrodactyly,_ectodermal_dysplasia,_and_cleft_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3131 259132 3 189582241 T G 251052 Benign not_specified 0.13148 0.12542 0.05851 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3132 259133 3 189582249 G A 251053 Benign not_specified 0.1912 0.13255 0.21985 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3133 259124 3 189587091 A G 251056 Benign not_specified 0.339 0.23107 0.3123 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3134 259128 3 189604149 T G 251059 Benign not_specified 0.77895 . 0.69888 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3135 259127 3 189604160 T C 251060 Benign not_specified 0.77895 0.72317 0.69948 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3136 344431 3 189614636 C T 293560 Benign Ectrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos... . . 0.19289 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3137 369418 3 189615080 A G 353647 Benign Ectrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos... . . 0.15156 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3138 677218 3 189712010 G A 655531 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3139 195367 3 190030680 A G 192528 Benign not_specified 0.82131 . 0.8111 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3140 260004 3 190106242 T C 251068 Benign Primary_hypomagnesemia|not_specified 0.19368 0.19493 0.11721 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3141 344463 3 190128942 G A 293610 Likely_benign Primary_hypomagnesemia . . 0.11462 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3142 344474 3 190129588 T A 293624 Benign Primary_hypomagnesemia . . 0.79613 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3143 95727 3 193334991 G A 101624 Benign Dominant_hereditary_optic_atrophy|not_specifie... 0.497 0.46827 0.46805 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3144 667770 3 193335252 G T 659798 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3145 667773 3 193336425 T C 659917 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3146 95728 3 193336639 T C 101625 Benign not_specified 0.42665 0.42302 0.39237 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3147 683260 3 193337021 G A 659658 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3148 95731 3 193355074 T C 101628 Benign Dominant_hereditary_optic_atrophy|not_specifie... 0.87137 0.87176 0.92292 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3149 95730 3 193355102 T C 101627 Benign not_specified 0.42411 0.42246 0.38978 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3150 683264 3 193362189 G A 659826 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3151 667772 3 193363163 G A 659710 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3152 676244 3 193363695 G A 659829 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3153 95717 3 193374964 T C 101614 Benign Dominant_hereditary_optic_atrophy|not_specifie... 0.49716 0.46682 0.46645 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3154 667792 3 193377037 G A 659833 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3155 673477 3 193377173 T C 659660 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3156 676245 3 193409726 T C 659665 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3157 344491 3 193412672 A G 294191 Benign Optic_Atrophy,_Dominant . . 0.64117 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3158 344494 3 193412949 T C 289738 Benign Optic_Atrophy,_Dominant . . 0.91374 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3159 344500 3 193413502 C T 289758 Benign Optic_Atrophy,_Dominant . . 0.59585 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3160 344501 3 193413732 A G 294193 Benign Optic_Atrophy,_Dominant . . 0.69629 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3161 344506 3 193414481 C T 290543 Benign Optic_Atrophy,_Dominant . . 0.4389 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3162 344512 3 193414733 A G 289778 Benign Optic_Atrophy,_Dominant . . 0.33786 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3163 344513 3 193414780 T C 289784 Benign Optic_Atrophy,_Dominant . . 0.4383 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3164 259877 3 195594805 A G 251074 Benign not_specified 0.12854 0.18972 0.11841 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3165 259873 3 195595054 C T 251078 Benign not_specified 0.1071 0.11201 0.08307 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3166 403381 3 196199204 G T 389582 Benign not_specified 0.51722 0.54049 0.40236 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3167 777589 3 196613101 G A 698002 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3168 772758 4 493148 C G 698538 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3169 476358 4 509850 T C 453480 Benign Mental_retardation,_autosomal_recessive_53 0.02722 0.02207 0.02057 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3170 167436 4 648643 G A 177920 Benign Retinitis_pigmentosa|not_specified 0.99892 0.99974 0.999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3171 167438 4 651287 C T 177922 Benign not_specified 0.04336 4e-05 0.01597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3172 167439 4 651290 C CA 177923 Benign/Likely_benign not_specified|Congenital_Stationary_Night_Blin... 0.04377 3e-05 0.01597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3173 349400 4 663908 A G 260350 Benign Congenital_Stationary_Night_Blindness,_Dominan... 0.57927 0.61462 0.54792 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3174 349401 4 663916 C A 293981 Benign Congenital_Stationary_Night_Blindness,_Dominan... 0.03737 0.02641 0.02875 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3175 92647 4 980932 G A 98554 Benign Mucopolysaccharidosis_type_I|not_specified|not... . 0.4882 0.39437 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3176 92651 4 980971 T G 98558 Benign Mucopolysaccharidosis_type_I|not_specified|not... . 0.91367 0.89197 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3177 710625 4 982720 G C 721126 Likely_benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3178 680617 4 995035 TGCACCCCTATCACCCAGGCC T 660380 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3179 680176 4 1795321 C A 660232 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3180 379389 4 1795557 T C 367926 Benign not_specified . . 0.99641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3181 667904 4 1804377 G A 660305 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3182 680177 4 1805296 G A 660600 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3183 680178 4 1806834 G C 660237 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3184 258894 4 2826400 T C 251436 Benign Fibrous_dysplasia_of_jaw|not_specified 0.79717 0.75377 0.78754 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3185 258898 4 2831383 T G 251440 Benign Fibrous_dysplasia_of_jaw|not_specified 0.45433 . 0.46625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3186 348676 4 2840368 A AT 298317 Benign Fibrous_dysplasia_of_jaw . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3187 18274 4 2906707 G T 33313 drug_response Hypertension,_salt-sensitive_essential,_suscep... . 0.20187 0.20847 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3188 679323 4 3465439 C T 660442 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3189 671280 4 3465566 G C 660277 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3190 262864 4 3475107 G A 251446 Benign not_specified|not_provided 0.22228 . 0.13878 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3191 262863 4 3475122 G A 251448 Benign not_specified 0.13969 0.12014 0.09704 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3192 196596 4 3475252 T C 193757 Benign not_specified . 0.99999 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3193 679325 4 3478323 T C 660283 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3194 681771 4 3478391 C A 660384 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3195 679326 4 3487099 A G 660465 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3196 679327 4 3487151 A G 660656 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3197 262878 4 3487237 A G 251459 Benign not_specified|not_provided 0.71217 0.75891 0.78175 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3198 681772 4 3487450 G A 660286 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3199 668119 4 3487638 G A 660289 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3200 679329 4 3491721 T C 660291 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3201 673974 4 3491839 A ATTCATTCCTTTCTTCACCCC 660292 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3202 681773 4 3494318 T G 660297 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3203 681774 4 3494419 G A 660303 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3204 262889 4 3494449 AC A 251466 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3205 802050 4 4861745 C G 790475 Benign Hypoplastic_enamel-onycholysis-hypohidrosis_sy... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3206 348976 4 5564191 A T 293698 Benign Ellis-van_Creveld_syndrome . . 0.54094 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3207 667873 4 5566748 T C 660455 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3208 195540 4 5570161 C T 192701 Benign/Likely_benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.01954 0.0261 0.00958 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3209 667872 4 5576140 T C 660320 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3210 670023 4 5616946 G C 660680 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3211 262614 4 5617295 T C 251508 Benign not_specified 0.35814 0.34318 0.42612 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3212 670010 4 5620649 C T 660681 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3213 262613 4 5624223 C T 251509 Benign not_specified 0.1058 0.05455 0.08806 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3214 262610 4 5624670 T C 251512 Benign Ellis-van_Creveld_syndrome|not_specified 0.44595 0.37059 0.51757 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3215 671964 4 5633205 G A 660324 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3216 671963 4 5633236 A G 660515 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3217 669999 4 5633995 C T 660464 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3218 674988 4 5642141 C T 660519 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3219 193763 4 5642274 T C 190926 Benign Ellis-van_Creveld_syndrome|not_specified 0.29494 0.19783 0.23003 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3220 675155 4 5642612 C G 660525 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3221 669996 4 5642756 T C 660526 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3222 667871 4 5664656 A T 660466 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3223 667870 4 5665261 A C 660696 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3224 667869 4 5665303 A C 660340 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3225 667868 4 5666960 C T 660534 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3226 667866 4 5667671 T C 660342 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3227 667865 4 5682740 T A 660345 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3228 669992 4 5686924 G A 660717 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3229 669986 4 5686967 C T 660719 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3230 667864 4 5690584 C T 660494 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3231 667862 4 5691199 C T 660720 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3232 667861 4 5691320 A C 660512 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3233 667845 4 5693359 C T 660513 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3234 667844 4 5695770 C G 660349 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3235 669975 4 5699097 G A 660560 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3236 262618 4 5710189 G A 251523 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... . 0.1651 0.21865 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3237 439668 4 5713312 G C 433536 Benign not_specified . . 0.1869 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3238 669932 4 5721313 C T 660568 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3239 675084 4 5730954 G A 660350 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3240 198281 4 5743509 C T 195442 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.9549 0.94562 0.96665 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3241 198282 4 5743512 T C 195443 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.70694 0.79506 0.74481 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3242 667834 4 5746620 T C 660725 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3243 262782 4 5746916 C T 251530 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... . 0.58425 0.59006 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3244 262784 4 5747078 A G 251533 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.70022 0.62946 0.59305 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3245 667835 4 5747292 C T 660726 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3246 262786 4 5749904 T C 251534 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.40566 0.41769 0.47145 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3247 262761 4 5749961 G C 251536 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.53245 0.49199 0.58287 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3248 262762 4 5750003 A G 251537 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.2738 0.29247 0.21745 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3249 669934 4 5750156 A G 660520 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3250 669948 4 5754355 C T 660571 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3251 667837 4 5754396 G C 660361 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3252 262764 4 5754544 T C 251539 Benign not_specified 0.37365 0.39999 0.32149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3253 667838 4 5755292 G A 660364 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3254 669950 4 5755373 G C 660582 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3255 167044 4 5755542 C A 177093 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.85261 . 0.84465 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3256 669954 4 5755837 T A 660583 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3257 262768 4 5785442 G A 251543 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.30801 . 0.30152 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3258 667841 4 5785697 C G 660528 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3259 262769 4 5795412 C T 251544 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.22185 . 0.33387 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3260 667842 4 5795616 C A 660371 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3261 669960 4 5795697 C T 660590 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3262 669965 4 5795710 G A 660548 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3263 262773 4 5803633 C T 251547 Benign not_specified 0.25342 0.36388 0.33986 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3264 262774 4 5803669 T C 251548 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.72174 0.72701 0.6905 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3265 262775 4 5803829 AC A 251549 Benign/Likely_benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3266 671275 4 5806789 A G 660615 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3267 262778 4 5812195 A G 251551 Benign not_specified 0.71797 0.74536 0.6907 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3268 262759 4 5812778 G A 251552 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome... 0.61279 0.60994 0.53375 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3269 349236 4 5813695 T C 293865 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome . . 0.4369 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3270 349258 4 5814607 CT C 299022 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3271 349266 4 5815032 G A 299044 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome . . 0.27017 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3272 349272 4 5815181 T C 299053 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome . . 0.72304 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3273 349276 4 5815381 G A 299061 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome . . 0.38758 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3274 349280 4 5815477 C T 299063 Benign Ellis-van_Creveld_syndrome|Curry-Hall_syndrome . . 0.38518 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3275 684340 4 6271416 G T 660618 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3276 676437 4 6279504 G A 660622 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3277 684341 4 6292643 G C 660387 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3278 670287 4 6292716 G C 660744 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3279 670288 4 6292755 C CAGGGGCATG 660748 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3280 670289 4 6292758 G GCA 660393 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3281 45459 4 6292909 C T 54626 Benign not_specified|WFS1-Related_Spectrum_Disorders|... 0.61633 0.65126 0.71506 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3282 4527 4 6292915 A G 19566 Benign Diabetes_mellitus,_noninsulin-dependent,_assoc... 0.6254 0.65546 0.72883 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3283 684342 4 6293350 T C 660576 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3284 670290 4 6293446 T C 660766 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3285 670298 4 6293474 A G 660578 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3286 45460 4 6293696 C G 54627 Benign not_specified|WFS1-Related_Spectrum_Disorders|... 0.67806 0.7212 0.75639 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3287 670299 4 6293919 C G 660768 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3288 670300 4 6293967 G A 660632 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3289 684344 4 6294001 A G 660771 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3290 684346 4 6295427 C G 660772 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3291 684347 4 6295451 A G 660584 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3292 684348 4 6295565 C T 660634 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3293 684349 4 6295583 C A 660395 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3294 4528 4 6295693 C G 19567 Benign Diabetes_mellitus,_noninsulin-dependent,_assoc... . . 0.72125 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3295 669596 4 6295750 A G 660398 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3296 684351 4 6295985 G A 660413 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3297 673197 4 6296447 G T 660780 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3298 670301 4 6302199 C T 660418 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3299 670302 4 6302220 C G 660598 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3300 45463 4 6302519 G A 54630 Benign not_specified|WFS1-Related_Spectrum_Disorders 0.79932 0.7818 0.88439 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3301 45431 4 6302707 C T 54598 Benign not_specified|WFS1-Related_Spectrum_Disorders|... 0.55305 0.62452 0.64157 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3302 45437 4 6303022 C T 54604 Benign not_specified|WFS1-Related_Spectrum_Disorders|... 0.63232 0.6595 0.72943 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3303 45442 4 6303354 G A 54609 Benign Diabetes_mellitus_AND_insipidus_with_optic_atr... 0.4012 0.5367 0.46925 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3304 45455 4 6303955 G A 54622 Benign not_specified|WFS1-Related_Spectrum_Disorders|... 0.56589 . 0.65316 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3305 45456 4 6304087 A G 54623 Benign not_specified|WFS1-Related_Spectrum_Disorders|... 0.71175 . 0.77995 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3306 349332 4 6304242 T C 299132 Benign not_specified|WFS1-Related_Spectrum_Disorders|... 0.71782 0.72475 0.78375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3307 349335 4 6304286 C T 295328 Benign WFS1-Related_Spectrum_Disorders|Nonsyndromic_H... . . 0.84804 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3308 349337 4 6304344 G A 293945 Benign WFS1-Related_Spectrum_Disorders|Nonsyndromic_H... . . 0.60663 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3309 349354 4 6304799 G C 299157 Benign WFS1-Related_Spectrum_Disorders|Nonsyndromic_H... . . 0.6262 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3310 349359 4 6304878 C T 293961 Benign WFS1-Related_Spectrum_Disorders|Nonsyndromic_H... . . 0.64756 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3311 669515 4 8869587 T C 655616 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3312 350207 4 9909923 G A 296326 Benign Familial_renal_hypouricemia 0.37936 . 0.27117 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3313 350213 4 9922130 C T 300090 Benign Familial_renal_hypouricemia 0.14939 0.24595 0.29413 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3314 350235 4 9982330 A G 300158 Benign Familial_renal_hypouricemia 0.7292 . 0.7524 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3315 4594 4 9994215 C T 19633 association Uric_acid_concentration,_serum,_quantitative_t... . . 0.85763 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3316 350237 4 9998440 C T 300168 Benign Familial_renal_hypouricemia 0.72713 . 0.64217 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3317 350240 4 9998493 A G 300170 Benign Familial_renal_hypouricemia 0.78233 0.80153 0.82069 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3318 347006 4 10022981 C T 296520 Benign Familial_renal_hypouricemia 0.42826 0.51034 0.40735 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3319 402544 4 10502937 T G 389584 Benign not_specified 0.99143 0.99764 0.99002 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3320 402545 4 10586571 G A 389605 Benign not_specified 0.04537 0.04387 0.02596 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3321 668061 4 15480073 T C 660189 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3322 126233 4 15482477 A G 131765 Benign not_specified 0.85647 0.8602 0.85024 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3323 126230 4 15538744 T G 131762 Benign not_specified 0.74869 0.74941 0.7482 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3324 126231 4 15539498 A G 131763 Benign not_specified 0.53268 0.59678 0.48602 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3325 126236 4 15568992 T C 131768 Benign Joubert_syndrome|Meckel-Gruber_syndrome|not_sp... 0.70159 0.71218 0.66254 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3326 126239 4 15569146 A C 131771 Benign not_specified 0.70314 . 0.66234 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3327 126243 4 15587897 A T 131775 Benign not_specified 0.9578 0.98751 0.94888 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3328 257382 4 15603069 G C 251363 Benign/Likely_benign Joubert_syndrome|Meckel-Gruber_syndrome|not_sp... 0.58095 0.60532 0.56689 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3329 95334 4 15982166 A G 101233 Benign not_specified|Stargardt_Disease,_Dominant|Cone... . 0.36079 0.44689 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3330 677210 4 15986042 G A 660365 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3331 677208 4 16002050 T C 660207 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3332 259907 4 16020162 C T 251366 Benign/Likely_benign not_specified|Stargardt_Disease,_Dominant|Cone... 0.08381 0.17357 0.13818 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3333 677178 4 16024885 A G 660370 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3334 348137 4 17488064 T C 297721 Benign BH4-Deficient_Hyperphenylalaninemia . . 0.626 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3335 348138 4 17488072 T C 294253 Benign BH4-Deficient_Hyperphenylalaninemia . . 0.65955 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3336 348141 4 17488244 G A 297793 Benign BH4-Deficient_Hyperphenylalaninemia . . 0.65855 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3337 348142 4 17488286 T G 292890 Benign BH4-Deficient_Hyperphenylalaninemia . . 0.65915 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3338 348150 4 17488533 CA TG 292897 Uncertain_significance BH4-Deficient_Hyperphenylalaninemia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3339 348163 4 17513724 G C 297814 Benign BH4-Deficient_Hyperphenylalaninemia 0.3652 0.50567 0.3756 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3340 348165 4 17513757 CG C 292915 Likely_benign BH4-Deficient_Hyperphenylalaninemia . . 0.18191 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3341 784037 4 20760520 A G 779201 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3342 348522 4 25122859 T C 293254 Likely_benign Pontoneocerebellar_hypoplasia . . 0.11582 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3343 130288 4 25125703 C G 135735 Benign/Likely_benign Pontoneocerebellar_hypoplasia|not_specified 0.0769 0.06679 0.11222 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3344 403456 4 25678199 A G 389591 Benign not_specified 0.87598 0.86426 0.91074 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3345 444124 4 26336243 C T 437747 Benign Diabetes_mellitus_type_2 . . 0.47844 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3346 444136 4 26352363 T G 437748 Benign Diabetes_mellitus_type_2 . . 0.72923 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3347 444128 4 26385335 G A 437751 Benign Diabetes_mellitus_type_2 . . 0.55431 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3348 444125 4 26414770 G C 437755 Benign Diabetes_mellitus_type_2 . . 0.46526 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3349 444126 4 26446006 G A 437757 Benign Diabetes_mellitus_type_2 . . 0.59525 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3350 444135 4 26451697 G A 437758 Benign Diabetes_mellitus_type_2 . . 0.53614 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3351 8360 4 38798648 C A 23399 protective Leprosy,_protection_against . 0.53892 0.80052 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3352 8361 4 38799710 T C 23400 risk_factor Leprosy_5 0.42795 0.39214 0.57468 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3353 287684 4 39236493 C T 271921 Conflicting_interpretations_of_pathogenicity Jeune_thoracic_dystrophy|Cranioectodermal_dysp... 0.00169 0.0021 0.0006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3354 261862 4 39259190 A G 251483 Benign not_specified 0.32515 0.37105 0.28115 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3355 811530 4 39276623 A AG 799356 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3356 348762 4 39287322 C T 298475 Benign Jeune_thoracic_dystrophy|Cranioectodermal_dysp... . . 0.48862 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3357 669810 4 39472556 C CCAAA 660484 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3358 670681 4 39472796 T A 660399 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3359 138117 4 39472842 T A 141820 Benign not_specified 0.29202 0.36545 0.33686 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3360 683095 4 39473114 C T 660307 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3361 683097 4 39473167 G C 660308 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3362 683116 4 39473170 G A 660404 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3363 674123 4 39473180 T C 660406 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3364 674124 4 39473186 G A 660309 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3365 674137 4 39473195 G A 660414 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3366 670682 4 39474868 G A 660431 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3367 12298 4 41259633 C A 27337 Benign Parkinson_disease_5|Parkinson_Disease,_Dominant . 0.35021 0.25399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3368 348787 4 41746460 C T 298516 Benign Neuroblastoma|Congenital_central_hypoventilation . . 0.42432 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3369 348788 4 41746477 T C 294839 Benign Neuroblastoma|Congenital_central_hypoventilation . . 0.05232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3370 43888 4 42965159 A C 53057 Benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.82518 . 0.85503 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3371 348826 4 43032612 G A 298554 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.53614 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3372 775217 4 46388119 G A 698523 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3373 348845 4 47954624 C T 298617 Uncertain_significance Retinitis_Pigmentosa,_Recessive 0.01394 0.01217 0.00519 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3374 517097 4 48012817 G A 500531 Benign not_specified . . 0.11222 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3375 178775 4 54310281 T G 173814 Benign not_specified 0.57137 0.59212 0.46665 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3376 259949 4 55141055 A G 251495 Benign Gastrointestinal_stroma_tumor|Idiopathic_hyper... 0.95887 0.98804 0.95767 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3377 259952 4 55161254 C T 251498 Benign not_specified 0.73581 0.80209 0.69908 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3378 259953 4 55161391 T C 251499 Benign Gastrointestinal_stroma_tumor|Idiopathic_hyper... 0.99677 0.99899 0.9972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3379 348913 4 55161517 A G 298643 Benign Gastrointestinal_stroma_tumor|Idiopathic_hyper... . . 0.99701 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3380 348921 4 55162271 T C 298654 Likely_benign Gastrointestinal_stroma_tumor|Idiopathic_hyper... . . 0.03075 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3381 348925 4 55162534 GTTT G,GT 298660 Uncertain_significance Gastrointestinal_stroma_tumor|Idiopathic_hyper... . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
3382 348930 4 55162950 C A 294981 Benign Gastrointestinal_stroma_tumor|Idiopathic_hyper... . . 0.9972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3383 348943 4 55163826 T G 293573 Benign Gastrointestinal_stroma_tumor|Idiopathic_hyper... . . 0.98762 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3384 518355 4 55948108 A G 508794 Benign Hemangioma,_capillary_infantile 0.99762 0.99856 0.99681 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3385 134603 4 55972974 T A 138342 not_provided not_specified 0.19391 0.21983 0.21186 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3386 134616 4 55979558 C T 138355 not_provided not_specified 0.1427 0.10893 0.15256 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3387 349002 4 56212404 C G 295041 Uncertain_significance Congenital_disorder_of_glycosylation . . 0.00899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3388 676204 4 56235860 T C 660677 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3389 676206 4 56235931 C G 660451 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3390 349009 4 56236328 C T 293625 Likely_benign Congenital_disorder_of_glycosylation . . 0.26757 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3391 349019 4 56236804 G A 293640 Likely_benign Congenital_disorder_of_glycosylation . . 0.26757 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3392 349022 4 56237137 C T 298694 Likely_benign Congenital_disorder_of_glycosylation . . 0.26737 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3393 349024 4 56237327 G A 298695 Benign Congenital_disorder_of_glycosylation . . 0.6887 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3394 349033 4 56238263 T C 298714 Likely_benign Congenital_disorder_of_glycosylation . . 0.26917 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3395 349043 4 56238626 G A 295072 Likely_benign Congenital_disorder_of_glycosylation . . 0.26757 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3396 349047 4 56238847 G A 293667 Benign Congenital_disorder_of_glycosylation . . 0.75 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3397 193395 4 56262374 A G 190559 Benign Congenital_disorder_of_glycosylation|not_speci... . 0.77214 0.75519 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3398 349072 4 56292101 A T 298767 Likely_benign Congenital_disorder_of_glycosylation . . 0.20967 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3399 128696 4 56874517 A C 134145 Benign not_specified 0.21078 0.20946 0.13918 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3400 349460 4 68620277 T C 299265 Benign Isolated_GnRH_Deficiency . . 0.98103 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3401 349468 4 68620957 T C 299275 Likely_benign Isolated_GnRH_Deficiency . . 0.46625 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3402 349475 4 68621197 A G 295504 Likely_benign Isolated_GnRH_Deficiency . . 0.44169 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3403 349477 4 68621308 A G 299286 Likely_benign Isolated_GnRH_Deficiency . . 0.46685 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3404 349478 4 68621332 C T 295507 Likely_benign Isolated_GnRH_Deficiency . . 0.46586 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3405 349482 4 68621550 G A 299291 Likely_benign Isolated_GnRH_Deficiency . . 0.46605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3406 349483 4 68621585 CA C 299297 Likely_benign Isolated_GnRH_Deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3407 225966 4 69536084 A C 227750 drug_response oxazepam_response_-_Other|lorazepam_response_-... 0.50246 0.50239 0.54653 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3408 349489 4 71494619 G A 299321 Benign Amelogenesis_Imperfecta,_Dominant . . 0.23842 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3409 349499 4 71508869 T C 295533 Likely_benign Amelogenesis_Imperfecta,_Dominant 0.04283 0.01385 0.03934 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3410 349513 4 71510836 C G 295535 Benign Amelogenesis_Imperfecta,_Dominant . . 0.22624 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3411 349520 4 71511259 G C 299348 Benign Amelogenesis_Imperfecta,_Dominant . . 0.24161 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3412 349540 4 72313411 C T 299360 Likely_benign Renal_tubular_acidosis,_proximal,_with_ocular_... 0.01938 0.04201 0.03514 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3413 349565 4 72433879 G C 295591 Benign Renal_tubular_acidosis,_proximal,_with_ocular_... . . 0.88818 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3414 349571 4 72434406 G C 299410 Benign Renal_tubular_acidosis,_proximal,_with_ocular_... . . 0.28794 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3415 349598 4 72436235 A G 299412 Benign Renal_tubular_acidosis,_proximal,_with_ocular_... . . 0.62061 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3416 15986 4 72618323 G T 31025 Benign GC1/GC2_POLYMORPHISM . . 0.20787 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3417 15987 4 72618334 A C 31026 Benign GC1/GC2_POLYMORPHISM . 0.5159 0.38159 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3418 748886 4 73185600 C T 749057 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3419 430719 4 73942678 C T 424258 association Lip_and_oral_cavity_carcinoma 0.12194 0.17092 0.17652 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3420 349639 4 74285239 C T 299444 Likely_benign Hyperthyroxinemia,_dysalbuminemic 0.5183 0.53538 0.48343 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3421 669877 4 77097336 C T 660783 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3422 670734 4 77134870 G A 655614 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3423 772868 4 77676309 A C 698634 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3424 261821 4 78987157 A G 251564 Benign Fraser_syndrome_1|not_specified 0.48742 0.45626 0.55152 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3425 518357 4 78989716 T C 508796 Benign Fraser_syndrome_1 . 0.27001 0.28774 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3426 261808 4 79186171 G A 251566 Benign Fraser_syndrome_1|not_specified 0.93556 0.97409 0.92213 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3427 194790 4 79238649 T C 191953 Benign Fraser_syndrome_1|not_specified 0.79778 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3428 261804 4 79240063 A G 251568 Benign Fraser_syndrome_1|not_specified 0.4114 . 0.43431 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3429 261813 4 79387464 A G 251576 Benign Fraser_syndrome_1|not_specified 0.96951 0.99012 0.96765 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3430 349752 4 79387586 A G 299519 Benign Fraser_syndrome_1 0.20827 0.31196 0.3137 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3431 261814 4 79391256 T C 251577 Benign Fraser_syndrome_1|not_specified 0.95529 0.98669 0.95607 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3432 261817 4 79420864 T C 251580 Benign Fraser_syndrome_1|not_specified 0.51038 0.50863 0.59385 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3433 261818 4 79420870 C G 251582 Benign Fraser_syndrome_1|not_specified 0.48065 . 0.59165 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3434 349790 4 79432455 A C 295831 Benign Fraser_syndrome_1 0.29624 0.3268 0.40455 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3435 349802 4 79440589 C T 299604 Likely_benign Fraser_syndrome_1 0.01899 0.02057 0.01478 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3436 349805 4 79442799 GT G 294360 Benign Fraser_syndrome_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3437 261798 4 79443850 G A 251588 Benign Fraser_syndrome_1|not_specified 0.53689 0.54709 0.51098 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3438 261801 4 79455714 C G 251590 Benign Fraser_syndrome_1|not_specified 0.40499 0.48842 0.51498 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3439 261802 4 79455733 C T 251591 Benign Fraser_syndrome_1|not_specified 0.40517 0.48842 0.51498 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3440 547870 4 79461956 T C 538370 Uncertain_significance Fraser_syndrome_1 0.01386 0.01323 0.00779 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3441 349829 4 79462560 A T 299624 Benign Fraser_syndrome_1 . . 0.20228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3442 349856 4 79464432 C T 299659 Benign Fraser_syndrome_1 . . 0.66174 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3443 349861 4 79464767 T C 295929 Benign Fraser_syndrome_1 . . 0.66174 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3444 349864 4 79464978 G A 299682 Benign Fraser_syndrome_1 . . 0.64038 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3445 349866 4 79465100 A ATTTT 299685 Benign Fraser_syndrome_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3446 349874 4 80905990 C G 295946 Benign Hyaline_fibromatosis_syndrome 0.71018 . 0.80272 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3447 349882 4 80977078 T G 294465 Benign Hyaline_fibromatosis_syndrome 0.58745 . 0.69728 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3448 349890 4 80993796 G T 294483 Benign Hyaline_fibromatosis_syndrome . . 0.3772 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3449 349897 4 80994124 C T 294488 Likely_benign Hyaline_fibromatosis_syndrome . . 0.14257 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3450 128830 4 84188850 G A 134279 Benign/Likely_benign Coenzyme_Q10_deficiency,_primary_1|not_specifi... 0.22084 0.27879 0.21026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3451 683554 4 84190749 A G 660668 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3452 128829 4 84191031 A G 134278 Benign Coenzyme_Q10_deficiency,_primary_1|not_specifi... 0.73685 0.73803 0.77816 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3453 226000 4 84192168 G C 227830 drug_response atorvastatin_response_-_Toxicity/ADR|hmg_coa_r... . . 0.66014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3454 683553 4 84193572 A G 660443 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3455 683548 4 84194328 T TATAC 660446 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3456 128828 4 84205872 C A 134277 Benign Coenzyme_Q10_deficiency,_primary_1|not_specifi... 0.68519 0.72489 0.64976 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3457 136978 4 84206004 T A 140681 Benign/Likely_benign Coenzyme_Q10_deficiency,_primary_1|not_specifi... 0.0168 . 0.00998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3458 349919 4 86936468 A G 296014 Benign Epileptic_encephalopathy . . 0.19429 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3459 349928 4 86937096 A C 299748 Benign Epileptic_encephalopathy . . 0.45288 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3460 349933 4 86937588 G C 296030 Benign Epileptic_encephalopathy . . 0.45268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3461 349939 4 86937874 C T 296037 Benign Epileptic_encephalopathy . . 0.21546 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3462 349954 4 87024409 T C 299820 Benign Epileptic_encephalopathy 0.53875 0.65806 0.59345 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3463 260356 4 88533441 T C 251593 Benign not_specified 0.43143 0.51617 0.47145 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3464 260355 4 88533445 T C 251594 Benign not_specified 0.22878 0.25855 0.21865 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3465 740806 4 88533815 T C 749100 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3466 260359 4 88534235 A G 251597 Benign not_specified 0.64773 0.62817 0.67432 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3467 260353 4 88537737 G A 251599 Benign not_specified 0.88476 0.79428 0.85543 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3468 598009 4 88767008 G A 589070 Benign not_specified 0.13486 0.18108 0.17232 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3469 92795 4 88929305 G A 98702 Benign/Likely_benign Polycystic_kidney_disease,_autosomal_dominant|... . 0.06252 0.11442 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3470 440143 4 88959381 G A 432996 Benign Polycystic_kidney_disease_2 0.65939 0.60393 0.69629 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3471 219985 4 88989089 A C 221479 Benign/Likely_benign Polycystic_kidney_disease_2|not_specified|not_... 0.00438 0.00481 0.00579 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3472 350035 4 88997073 G GA 299900 Likely_benign Polycystic_kidney_disease,_autosomal_dominant . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3473 350037 4 88997102 C T 296123 Likely_benign Polycystic_kidney_disease,_autosomal_dominant . . 0.19309 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3474 350045 4 88997876 G A 296126 Likely_benign Polycystic_kidney_disease,_autosomal_dominant . . 0.09864 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3475 30389 4 89052323 G T 39346 drug_response allopurinol_response_-_Dosage,_Efficacy|Ovaria... 0.0845 0.11802 0.11941 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3476 30386 4 89061114 C T 39343 Affects,_association Uric_acid_concentration,_serum,_quantitative_t... 0.04552 0.10758 0.15755 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3477 350093 4 90646886 G A 299919 Benign Parkinson_Disease,_Dominant . . 0.48423 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3478 350131 4 96075965 C T 296235 Benign Brachydactyly|not_provided . . 0.40415 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3479 350133 4 96076020 A G 299987 Benign Brachydactyly . . 0.59285 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3480 350135 4 96076113 C CT 300008 Uncertain_significance Brachydactyly . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3481 350147 4 96076813 A G 300021 Benign Brachydactyly . . 0.57927 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3482 350152 4 96077383 A G 300020 Benign Brachydactyly . . 0.59345 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3483 350167 4 96078174 C T 300040 Benign Brachydactyly . . 0.38359 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3484 350171 4 96078600 A G 300043 Benign Brachydactyly . . 0.38439 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3485 350174 4 96079045 T C 300046 Benign Brachydactyly . . 0.38478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3486 350175 4 96079079 C G 296278 Benign Brachydactyly . . 0.12061 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3487 18180 4 100260789 T C 33219 protective Alcohol_dependence . 0.34439 0.21426 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3488 18179 4 100263965 C T 33218 protective Alcohol_dependence . 0.34247 0.21426 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3489 402344 4 100268190 A C 389612 Benign not_specified . 0.98484 0.99281 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3490 347008 4 100485244 G C 294755 Benign Abetalipoproteinaemia . 0.21537 0.1907 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3491 347009 4 100485255 G A 300160 Benign Abetalipoproteinaemia . 0.33191 0.25 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3492 14242 4 100504664 T C 29281 Benign Abetalipoproteinaemia|Metabolic_syndrome,_prot... . 0.25044 0.2498 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3493 347052 4 100544284 C G 294800 Uncertain_significance Abetalipoproteinaemia . . 0.01038 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3494 347062 4 100545051 C G 296412 Benign Abetalipoproteinaemia . . 0.6877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3495 1269 4 102751076 G A 16308 Uncertain_significance Systemic_lupus_erythmatosus,_association_with . . 0.21845 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3496 347065 4 103552709 C T 296563 Benign Beta-D-mannosidosis . . 0.55032 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3497 347067 4 103552813 C T 291851 Benign Beta-D-mannosidosis . . 0.55032 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3498 347068 4 103552830 G A 293217 Benign Beta-D-mannosidosis . . 0.55032 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3499 347074 4 103553053 G A 296580 Benign Beta-D-mannosidosis . . 0.55032 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3500 347075 4 103553090 A G 293223 Benign Beta-D-mannosidosis . . 0.55032 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3501 347077 4 103553372 C T 296534 Benign/Likely_benign Beta-D-mannosidosis|not_provided 0.01292 0.01313 0.00639 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3502 403070 4 103553447 GA G 389604 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3503 667482 4 103553543 C T 660176 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3504 667481 4 103553665 G A 660177 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3505 667480 4 103555619 C G 660388 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3506 667478 4 103555676 T C 660062 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3507 667477 4 103555803 G C 660390 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3508 667476 4 103555821 G A 660067 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3509 95320 4 103555992 A G 101219 Benign Beta-D-mannosidosis|not_specified|not_provided 0.54844 0.53296 0.54972 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3510 667475 4 103556316 T C 660181 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3511 667474 4 103556367 G GT 660183 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3512 667473 4 103556462 G C 660152 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3513 667472 4 103556861 T C 660392 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3514 95319 4 103557077 G A 101218 Benign Beta-D-mannosidosis|not_specified|not_provided 0.54844 . 0.54912 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3515 95318 4 103557192 C T 101217 Benign not_specified|not_provided 0.54875 0.53368 0.54912 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3516 667470 4 103557219 C T 660160 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3517 667469 4 103557251 G A 660185 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3518 667468 4 103557311 G C 660187 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3519 347104 4 104510766 G A 296542 Likely_benign Isolated_GnRH_Deficiency . . 0.55032 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3520 802081 4 107168431 G C 790428 Benign Hypotonia,_infantile,_with_psychomotor_retarda... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3521 670712 4 108853592 A G 660075 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3522 377766 4 108868515 T C 367432 Benign not_specified 0.62886 . 0.65096 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3523 167162 4 108931039 T C 177759 Benign not_specified 0.84945 0.91505 0.86901 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3524 767969 4 110384047 G GCTTTT 777405 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3525 162164 4 110590479 G T 171877 not_provided not_provided . . 0.78455 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3526 369434 4 110661835 T C 353663 Benign Atypical_hemolytic_uremic_syndrome . 0.0107 0.03275 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3527 347143 4 110661937 G A 293307 Benign Atypical_hemolytic_uremic_syndrome . 0.98817 0.95367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3528 347167 4 110681505 C T 293323 Benign Atypical_hemolytic_uremic_syndrome 0.29417 0.28372 0.3121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3529 347170 4 110685679 A T 296651 Likely_benign Atypical_hemolytic_uremic_syndrome 0.01469 0.00481 0.01118 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3530 347195 4 110791361 G A 296675 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.17361 . 0.2486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3531 347196 4 110791413 C T 291932 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.17354 0.19511 0.25899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3532 347197 4 110791453 T C 296667 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.12763 0.03799 0.11741 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3533 347198 4 110791543 C T 293357 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.17361 0.19504 0.2488 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3534 347203 4 110792443 G C 296699 Likely_benign Congenital_Stationary_Night_Blindness,_Recessive . . 0.03415 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3535 347206 4 110792629 A G 291943 Benign Congenital_Stationary_Night_Blindness,_Recessive . . 0.77776 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3536 347213 4 110793139 T A 296678 Likely_benign Congenital_Stationary_Night_Blindness,_Recessive . . 0.04633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3537 225998 4 110834110 A G 227748 drug_response cetuximab_response_-_Efficacy|Renal_Hypomagnes... . . 0.60523 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3538 347234 4 110883121 G A 296701 Benign Renal_Hypomagnesemia,_Recessive 0.12379 0.09846 0.16534 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3539 780933 4 110895923 A G 709124 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3540 347242 4 110901147 A G 293436 Benign Renal_Hypomagnesemia,_Recessive 0.03145 0.04767 0.10603 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3541 347245 4 110901198 G A 293437 Benign Renal_Hypomagnesemia,_Recessive 0.52514 0.46584 0.61781 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3542 347248 4 110908933 T C 296755 Likely_benign Renal_Hypomagnesemia,_Recessive 0.03675 0.01163 0.03315 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3543 347252 4 110914427 A T 292005 Benign Renal_Hypomagnesemia,_Recessive 0.84892 0.84067 0.92053 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3544 347273 4 110933094 C T 293454 Likely_benign Renal_Hypomagnesemia,_Recessive . . 0.03035 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3545 347278 4 110933523 GTT G 292021 Uncertain_significance Renal_Hypomagnesemia,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3546 347283 4 110933855 T C 293461 Benign Renal_Hypomagnesemia,_Recessive . . 0.42552 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3547 672177 4 113825869 T C 660162 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3548 683232 4 114153062 A T 660082 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3549 683235 4 114159052 A C 660213 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3550 671890 4 114171154 A G 660168 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3551 678445 4 114199312 C T 660097 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3552 671891 4 114209350 C T 660432 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3553 671007 4 114267023 G A 660452 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3554 347373 4 119201531 GTT G 296847 Benign Intellectual_Disability,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3555 130041 4 119237348 T C 135487 Benign not_specified|Intellectual_Disability,_Recessive 0.52391 0.55467 0.54533 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3556 130042 4 119273712 C G 135488 Benign not_specified|Intellectual_Disability,_Recessive 0.55012 0.65434 0.49221 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3557 771145 4 119736626 G C 698349 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3558 672825 4 120071926 T C 660267 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3559 671139 4 120072233 G C 660141 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3560 671140 4 120072238 A G 660151 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3561 671141 4 120072275 G C 660483 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3562 31787 4 120079159 A G 40447 Benign Familial_hypertrophic_cardiomyopathy_16|not_sp... 0.58934 0.64943 0.54633 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3563 671142 4 120079387 G A 660157 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3564 674345 4 120106982 T C 660269 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3565 45786 4 120107098 G GT 54951 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3566 347422 4 120108603 G A 296893 Likely_benign Hypertrophic_cardiomyopathy . . 0.28734 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3567 16494 4 120241902 T C 31533 Benign FATTY_ACID-BINDING_PROTEIN,_INTESTINAL,_POLYMO... . 0.72606 0.74661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3568 683711 4 121676080 A C 660211 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3569 683710 4 121702011 G C 660504 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3570 347437 4 121706201 A G 293600 Benign Brittle_cornea_syndrome_1|not_specified 0.19983 0.21155 0.13738 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3571 683709 4 121719113 C T 660284 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3572 347440 4 121719584 T TA 292165 Benign Brittle_cornea_syndrome_1|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3573 683708 4 121732251 C G 660287 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3574 683727 4 121737288 G A 660212 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3575 347444 4 121738049 T C 296920 Benign Brittle_cornea_syndrome_1|not_specified 0.28125 0.29117 0.27496 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3576 347445 4 121738070 C T 296926 Benign/Likely_benign Brittle_cornea_syndrome_1|not_specified 0.02407 0.02449 0.01018 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3577 347471 4 122746285 TC T 296948 Benign Bardet-Biedl_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3578 347476 4 122746596 A T 296957 Benign Bardet-Biedl_syndrome . . 0.27676 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3579 262922 4 122749436 G T 251316 Benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.77539 . 0.8121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3580 347491 4 122791601 G C 292191 Benign Bardet-Biedl_syndrome . . 0.30132 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3581 402975 4 123536963 G A 389654 Benign not_specified 0.76534 0.74336 0.84046 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3582 347494 4 123653926 G A 292197 Likely_benign Bardet-Biedl_syndrome . . 0.13918 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3583 166725 4 123664204 G A 176959 Benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.41381 0.41403 0.50639 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3584 262669 4 123664247 G A 251326 Benign Bardet-Biedl_syndrome|not_specified|not_provided 0.10611 0.03759 0.09265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3585 166726 4 123664427 G C 177507 Benign/Likely_benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.17492 0.17276 0.09465 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3586 166727 4 123664446 G A 177222 Benign/Likely_benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.17261 0.16956 0.09265 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3587 166728 4 123664457 C T 177508 Benign/Likely_benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.20814 0.18683 0.12101 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3588 166730 4 123664919 A G 177510 Benign/Likely_benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.17138 0.16933 0.09185 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3589 347508 4 123665366 T TA 293633 Likely_benign Bardet-Biedl_syndrome . . 0.13199 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3590 347513 4 123665991 C G 293643 Benign Bardet-Biedl_syndrome . . 0.54413 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3591 586674 4 123868279 G T 576773 Benign not_provided . . 0.74341 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3592 203522 4 123949556 G A 199933 Benign not_provided 0.8952 0.91669 0.87859 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3593 380793 4 126240510 T C 367834 Benign not_specified 0.76595 0.70116 0.72105 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3594 380818 4 126241253 G C 367553 Benign not_specified 0.11241 0.09213 0.0643 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3595 380882 4 126241335 C G 367878 Benign not_specified 0.03835 0.08517 0.10863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3596 377855 4 126241871 C T 367841 Benign not_specified 0.75436 0.69741 0.71126 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3597 668137 4 126328562 T C 660218 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3598 380250 4 126329789 T C 367846 Benign not_specified 0.99054 0.99659 0.98842 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3599 380794 4 126336703 T C 368957 Benign not_specified 0.13302 0.17761 0.20467 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3600 668138 4 126355844 T A 660219 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3601 668139 4 126367986 C T 660170 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3602 380795 4 126369872 G C 367556 Benign not_specified 0.99239 . 0.99082 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3603 380813 4 126372742 G A 367890 Benign Van_Maldergem_syndrome_2|not_specified 0.22067 0.26733 0.23063 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3604 380797 4 126373789 G A 367898 Benign Van_Maldergem_syndrome_2|not_specified 0.99247 0.99777 0.99101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3605 680145 4 126384595 C T 660543 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3606 680146 4 126384905 A C 660295 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3607 680147 4 126390181 C T 660221 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3608 668140 4 126397056 C T 660298 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3609 380799 4 126397321 C T 368992 Benign not_specified 0.39597 0.3745 0.33786 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3610 668141 4 126401326 T C 660306 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3611 680154 4 126402921 T G 660175 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3612 680157 4 126408980 A T 660227 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3613 681691 4 126408988 G C 660312 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3614 380802 4 126412575 A G 367599 Benign not_specified 0.7442 0.75686 0.74062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3615 347552 4 140375145 G C 292257 Benign Smith-McCort_dysplasia . . 0.17093 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3616 347558 4 140375296 C G 292267 Benign Smith-McCort_dysplasia . . 0.17133 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3617 347575 4 140394875 G A 292269 Likely_benign Smith-McCort_dysplasia . . 0.10383 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3618 347582 4 140395583 C T 292290 Benign Smith-McCort_dysplasia . . 0.15895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3619 347584 4 140395683 C A 292299 Likely_benign Smith-McCort_dysplasia . . 0.01138 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3620 347593 4 140396931 C A 293742 Benign Smith-McCort_dysplasia . . 0.22704 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3621 667501 4 146567584 T G 660188 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3622 667502 4 146574977 T C 660553 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3623 347647 4 146579194 T C 292365 Benign Methylmalonic_acidemia . . 0.56569 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3624 347652 4 146579354 A T 297183 Benign Methylmalonic_acidemia . . 0.56569 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3625 347655 4 146579452 A G 297184 Benign Methylmalonic_acidemia . . 0.27416 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3626 347673 4 149000024 C T 297192 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.71625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3627 347695 4 149001085 T C 292417 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.55351 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3628 256828 4 149356516 A G 251336 Benign Pseudohypoaldosteronism_type_1_autosomal_domin... 0.89812 . 0.89197 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3629 256832 4 149357475 C T 251337 Benign Pseudohypoaldosteronism_type_1_autosomal_domin... 0.89759 0.88116 0.89197 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3630 256827 4 149358014 G C 251338 Benign Pseudohypoaldosteronism_type_1_autosomal_domin... 0.39743 0.55105 0.5008 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3631 403047 4 151199080 G A 389609 Benign not_specified 0.19499 0.20277 0.14217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3632 403048 4 151207127 C T 389652 Benign not_specified 0.22321 0.27726 0.16214 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3633 473187 4 151242333 C G 452979 Benign not_provided 0.02545 0.0077 0.02316 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3634 439869 4 151242409 T G 433673 Conflicting_interpretations_of_pathogenicity Common_variable_immunodeficiency_8,_with_autoi... 0.00677 0.00463 0.002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3635 403050 4 151719263 A G 389662 Benign not_specified 0.17508 0.18415 0.12081 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3636 473178 4 151753133 GA G 453283 Benign Common_variable_immunodeficiency_8,_with_autoi... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3637 196133 4 151765243 G A 193294 Benign not_specified 0.83577 0.85691 0.753 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3638 347782 4 155492224 A C 293907 Benign Afibrinogenemia,_congenital . . 0.21366 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3639 347787 4 155492421 T C 292488 Benign Afibrinogenemia,_congenital . . 0.92352 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3640 347799 4 155493352 C T 292505 Benign Afibrinogenemia,_congenital . . 0.21326 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3641 347824 4 155511897 T C 297315 Benign Familial_visceral_amyloidosis,_Ostertag_type|A... 0.64805 . 0.64297 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3642 347911 4 157997377 T C 297419 Benign Hyperekplexia . . 0.47364 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3643 347917 4 158043559 C T 297477 Benign Hyperekplexia 0.43674 . 0.49121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3644 347924 4 158073913 T C 297500 Benign Hyperekplexia 0.0489 0.04729 0.0621 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3645 347932 4 158092040 G A 292659 Benign Hyperekplexia . . 0.06849 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3646 347940 4 158092422 T A 297437 Benign Hyperekplexia . . 0.47145 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3647 347943 4 158092733 T C 292668 Benign Hyperekplexia . . 0.08626 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3648 347948 4 158093061 C T 297452 Benign Hyperekplexia . . 0.08606 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3649 95075 4 159601676 C T 100975 Benign Glutaric_aciduria,_type_2|not_specified|not_pr... 0.65657 0.81192 0.67272 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3650 676122 4 159603110 A G 660362 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3651 683984 4 159611841 A AAAG 660570 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3652 680123 4 159617019 C T 660363 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3653 375483 4 164007820 A G 362288 association Chronic_osteomyelitis . . 0.80691 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3654 769296 4 165800154 T C 698419 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3655 348020 4 169418267 A T 292720 Benign Carcinoma_of_pancreas . . 0.40675 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3656 128099 4 169632959 C T 133556 Likely_benign Carcinoma_of_pancreas|not_specified|not_provided 0.00123 0.00154 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3657 182793 4 169799448 A G 180160 Benign not_specified|not_provided . 0.64643 0.47863 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3658 182795 4 169846359 GCT G 180162 Benign Hereditary_cancer-predisposing_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3659 348048 4 169847646 TA T 294114 Benign Carcinoma_of_pancreas . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3660 348069 4 169849389 C G 297578 Benign Carcinoma_of_pancreas . . 0.56809 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3661 348072 4 169849477 TA T 292770 Benign Carcinoma_of_pancreas . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3662 348083 4 170315166 A G 294152 Benign Short_Rib_Polydactyly_Syndrome . . 0.36342 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3663 348085 4 170315496 C T 292774 Benign Short_Rib_Polydactyly_Syndrome . . 0.90575 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3664 667932 4 170315872 G A 660372 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3665 667931 4 170328209 A G 660214 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3666 667930 4 170346090 C T 660577 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3667 667929 4 170346254 A G 660579 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3668 667928 4 170354476 G C 660252 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3669 95508 4 170354836 C T 101407 Benign Short_rib-polydactyly_syndrome,_Majewski_type|... 0.7923 0.87222 0.79533 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3670 667927 4 170359021 G A 660376 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3671 671220 4 170398843 T C 660581 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3672 667924 4 170476699 T TCA 660272 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3673 667906 4 170506990 C T 660288 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3674 671200 4 170522973 C T 660225 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3675 369440 4 175444055 T C 353669 Benign Digital_clubbing,_isolated_congenital|Hypertro... . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3676 348224 4 178352679 T G 294280 Benign Aspartylglucosaminuria . 0.61064 0.45687 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3677 683254 4 178353046 G C 660592 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3678 683253 4 178354667 C A 660229 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3679 683252 4 178354680 A T 660407 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3680 558962 4 178355668 C G 549568 Benign not_provided 0.98678 0.99669 0.98902 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3681 683243 4 178355880 C T 660409 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3682 92308 4 178359960 G C 98219 Benign Aspartylglucosaminuria|not_specified|not_provided 0.92527 0.97822 0.92093 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3683 683241 4 178360196 T C 660300 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3684 683240 4 178360476 C A 660301 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3685 558965 4 178363378 G A 549571 Benign not_provided 0.60657 0.65526 0.61042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3686 677187 4 183601594 G A 660317 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3687 257347 4 183601847 T C 251400 Benign not_specified|not_provided 0.37485 0.44928 0.52017 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3688 667657 4 183602098 C G 660601 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3689 674012 4 183651063 G C 660319 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3690 257349 4 183652175 T C 251402 Benign not_specified . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3691 677188 4 183664593 G A 660257 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3692 257353 4 183674697 C T 251406 Benign not_specified|not_provided 0.17155 0.19882 0.16474 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3693 674013 4 183674945 G T 660415 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3694 674014 4 183675227 T C 660417 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3695 667659 4 183715310 G C 660326 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3696 667660 4 183718095 C G 660259 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3697 348256 4 186068637 A G 292939 Benign Progressive_External_Ophthalmoplegia_with_Mito... . . 0.9365 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3698 348259 4 186068998 G A 294314 Benign Progressive_External_Ophthalmoplegia_with_Mito... . . 0.03654 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3699 348262 4 186069178 T C 294317 Benign Progressive_External_Ophthalmoplegia_with_Mito... . . 0.4399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3700 348271 4 186070432 T C 297875 Benign Progressive_External_Ophthalmoplegia_with_Mito... . . 0.46865 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3701 348282 4 186071068 G A 297804 Benign Progressive_External_Ophthalmoplegia_with_Mito... . . 0.43051 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3702 138675 4 186423637 G A 142378 Benign not_specified|Cardiovascular_phenotype 0.69668 0.78301 0.65955 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3703 138674 4 186423655 G A 142377 Benign not_specified 0.11987 0.15631 0.13918 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3704 671179 4 186423677 G A 660327 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3705 671178 4 186427841 T C 660337 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3706 683682 4 186429991 T G 660356 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3707 683681 4 186444235 T C 660358 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3708 672915 4 186444698 A C 660274 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3709 41472 4 187004074 C T 49908 Benign/Likely_benign Human_immunodeficiency_virus_type_1,_susceptib... 0.21598 . 0.23183 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3710 470483 4 187005865 C T 453122 Benign Herpes_simplex_encephalitis_1 0.06343 . 0.05451 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3711 348288 4 187112682 A C 294375 Benign Bietti_crystalline_corneoretinal_dystrophy|Cor... . . 0.86222 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3712 348291 4 187112826 A G 297824 Benign Bietti_crystalline_corneoretinal_dystrophy|Cor... . . 0.4355 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3713 263297 4 187120211 C A 251427 Benign Bietti_crystalline_corneoretinal_dystrophy|not... 0.62825 0.58525 0.55931 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3714 166975 4 187122304 C T 177662 Benign Bietti_crystalline_corneoretinal_dystrophy|not... 0.36752 0.33771 0.29233 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3715 166976 4 187122319 T G 177663 Benign Bietti_crystalline_corneoretinal_dystrophy|not... 0.63994 . 0.57748 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3716 263298 4 187122332 G A 251428 Benign/Likely_benign Bietti_crystalline_corneoretinal_dystrophy|not... 0.03852 0.0272 0.03355 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3717 348319 4 187132159 T G 297909 Benign Bietti_crystalline_corneoretinal_dystrophy|Cor... . . 0.82728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3718 348324 4 187132520 C T 294421 Benign Bietti_crystalline_corneoretinal_dystrophy|Cor... . . 0.90435 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3719 348325 4 187132536 C T 297916 Benign Bietti_crystalline_corneoretinal_dystrophy|Cor... . . 0.82728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3720 348351 4 187133031 A T 293022 Benign Bietti_crystalline_corneoretinal_dystrophy|Cor... . . 0.45767 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3721 348357 4 187133576 A C 294435 Benign Bietti_crystalline_corneoretinal_dystrophy|Cor... . . 0.90415 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3722 12037 4 187158034 G A 27076 Conflicting_interpretations_of_pathogenicity Prekallikrein_deficiency . 0.53647 0.60463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3723 760971 4 187207381 C T 774896 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3724 348382 4 187210033 A G 293066 Likely_benign Hereditary_factor_XI_deficiency_disease . . 0.1284 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3725 348383 4 187210064 G C 293075 Benign Hereditary_factor_XI_deficiency_disease . . 0.38618 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3726 348385 4 187210247 A T 298032 Benign Hereditary_factor_XI_deficiency_disease . . 0.38958 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3727 348396 4 187210741 CATT C 298036 Uncertain_significance Hereditary_factor_XI_deficiency_disease . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3728 781849 4 187539205 C T 709288 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3729 259248 5 230980 A G 251940 Benign/Likely_benign Pheochromocytoma|Leigh_syndrome|Hereditary_can... 0.91258 . 0.85843 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3730 130283 5 231111 T C 135730 Benign/Likely_benign Pheochromocytoma|Leigh_syndrome|Hereditary_can... 0.76869 0.70783 0.65336 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3731 548117 5 610093 C T 538600 drug_response vincristine_response_-_Toxicity/ADR . . 0.28215 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3732 782944 5 1038075 C T 709550 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3733 130354 5 1216775 A G 135801 Likely_benign not_specified 0.92726 . 0.84006 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3734 39119 5 1255520 G A 47725 Benign Aplastic_anemia|Idiopathic_fibrosing_alveoliti... 0.07381 0.12388 0.11781 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3735 539247 5 1266310 A G 520672 Benign not_provided . . 0.43431 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3736 225783 5 1279790 C T 227598 Benign Chronic_osteomyelitis|not_provided . . 0.34764 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3737 539266 5 1280028 G A 520888 Benign not_provided . . 0.16574 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3738 539227 5 1285974 C A 520975 Benign not_provided . . 0.32149 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3739 39126 5 1294086 C T 47732 Benign Aplastic_anemia|Idiopathic_fibrosing_alveoliti... 0.20753 0.40447 0.26558 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3740 539240 5 1295349 A G 520856 Benign not_provided . . 0.29792 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3741 518359 5 1409127 T C 508799 Benign Parkinsonism-dystonia,_infantile,_1 0.99669 0.96388 0.9367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3742 522347 5 1432825 G T 512901 Benign Parkinsonism-dystonia,_infantile,_1 0.28687 0.31903 0.42033 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3743 683110 5 1801936 A G 661326 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3744 683111 5 1802229 C T 660881 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3745 683112 5 1814146 G A 661328 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3746 683115 5 1814783 T C 660883 Benign MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3747 354040 5 6599492 TG T 300127 Likely_benign Intellectual_Disability,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3748 129841 5 6600064 G T 135287 Benign/Likely_benign History_of_neurodevelopmental_disorder|not_spe... 0.06589 . 0.05511 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3749 354054 5 6605532 C A 300147 Benign Intellectual_Disability,_Recessive . 0.66094 0.67532 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3750 129845 5 6632875 G A 135291 Benign not_specified|Intellectual_Disability,_Recessive 0.3483 0.33253 0.27676 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3751 129842 5 6633042 C T 135288 Benign History_of_neurodevelopmental_disorder|not_spe... . 0.29417 0.27656 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3752 354067 5 6633222 C T 304385 Benign Intellectual_Disability,_Recessive . . 0.26238 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3753 7029 5 7870973 A G 22068 drug_response Down_syndrome,_susceptibility_to|Neural_tube_d... . 0.47303 0.36422 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3754 138304 5 7878179 C T 142007 Benign Gastrointestinal_stroma_tumor|Disorders_of_Int... 0.32823 0.31547 0.26997 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3755 506293 5 7885794 T TTC 501264 Benign not_specified . . 0.09006 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3756 138295 5 7891546 G A 141998 Benign not_specified 0.01991 . 0.00799 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3757 138296 5 7892933 A G 141999 Benign Homocystinuria-Megaloblastic_anemia_due_to_def... 0.01945 0.0152 0.00799 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3758 138297 5 7893005 C T 142000 Benign Homocystinuria-Megaloblastic_anemia_due_to_def... 0.02099 0.01606 0.00899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3759 138299 5 7897061 T C 142002 Conflicting_interpretations_of_pathogenicity Homocystinuria-Megaloblastic_anemia_due_to_def... 0.01945 0.01526 0.00799 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3760 138302 5 7897319 G A 142005 Benign Disorders_of_Intracellular_Cobalamin_Metabolis... 0.32362 0.3142 0.26637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3761 354369 5 7900598 T C 300511 Likely_benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.08307 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3762 354373 5 7900833 T A 305043 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.48562 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3763 354376 5 7900996 TC T 300516 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.48622 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3764 350245 5 10250430 G A 294803 Benign Neuropathy,_hereditary_sensory,_with_spastic_p... 0.71298 . 0.6853 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3765 350246 5 10250443 T C 296446 Benign Neuropathy,_hereditary_sensory,_with_spastic_p... 0.71805 0.78916 0.6853 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3766 350248 5 10254817 A G 300196 Benign Neuropathy,_hereditary_sensory,_with_spastic_p... 0.71867 0.78947 0.6859 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3767 350249 5 10256161 T C 300209 Benign Neuropathy,_hereditary_sensory,_with_spastic_p... 0.72736 . 0.69249 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3768 350257 5 10262740 C A 294811 Benign Neuropathy,_hereditary_sensory,_with_spastic_p... 0.71867 0.78944 0.6859 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3769 350262 5 10264962 A G 296482 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . . 0.6857 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3770 350264 5 10265076 C T 296487 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . . 0.6859 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3771 350271 5 10265278 A G 300281 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . . 0.6859 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3772 350276 5 10265488 A G 300284 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . . 0.6861 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3773 350278 5 10265719 C G 296511 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . . 0.66314 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3774 350284 5 10265886 C CTCTAT 296526 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3775 350288 5 10266067 G T 300246 Benign Sensory_Neuropathy_with_Spastic_Paraplegia . . 0.88798 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3776 350910 5 13691045 T C 295377 Benign Primary_ciliary_dyskinesia . . 0.44369 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3777 258001 5 13692279 A T 251675 Benign not_specified 0.55259 0.52578 0.50879 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3778 178740 5 13701525 T C 173682 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.48601 0.50127 0.44768 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3779 163132 5 13701536 T C 173545 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.53429 0.51897 0.50359 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3780 257989 5 13721378 A G 251687 Benign not_specified 0.10165 0.10571 0.05671 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3781 257985 5 13729714 A G 251688 Benign not_specified 0.59343 0.60235 0.59764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3782 257980 5 13735892 T C 251692 Benign not_specified 0.55936 . 0.55591 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3783 178744 5 13737444 G A 173548 Benign/Likely_benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.09434 . 0.06569 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3784 407241 5 13841160 A AT 394769 Pathogenic Primary_ciliary_dyskinesia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3785 258039 5 13850731 C A 251744 Benign not_specified 0.06097 0.05265 0.05331 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3786 258038 5 13850739 T A 251745 Benign not_specified 0.33446 . 0.35703 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3787 163154 5 13882841 A G 173563 Benign/Likely_benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.26988 0.25347 0.2506 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3788 258017 5 13882958 C T 251764 Benign not_specified 0.25427 0.30769 0.3157 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3789 178755 5 13900345 A G 173566 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.52214 0.50153 0.60124 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3790 163157 5 13902220 T C 173704 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.332 0.41862 0.38838 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3791 163158 5 13913885 A G 173705 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.42965 0.42202 0.52875 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3792 257987 5 13914775 G T 251779 Benign not_specified 0.42779 0.42165 0.52875 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3793 257988 5 13914796 T C 251780 Benign not_specified 0.42715 0.42096 0.52855 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3794 258072 5 13919255 T G 251783 Benign not_specified 0.22005 0.25856 0.19589 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3795 178760 5 13944512 A C 173571 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.92557 0.9358 0.91294 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3796 351403 5 14705665 T C 301744 Benign Chondrocalcinosis|Craniometaphyseal_dysplasia . . 0.70527 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3797 351418 5 14707087 A G 297626 Likely_benign Chondrocalcinosis|Craniometaphyseal_dysplasia . . 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3798 351424 5 14707378 G A 295804 Benign Chondrocalcinosis|Craniometaphyseal_dysplasia . . 0.92073 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3799 351425 5 14707405 GA G 301758 Benign Chondrocalcinosis|Craniometaphyseal_dysplasia . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3800 351428 5 14707600 C T 297645 Benign Chondrocalcinosis|Craniometaphyseal_dysplasia . . 0.92073 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3801 351457 5 14709199 T C 301573 Benign Chondrocalcinosis|Craniometaphyseal_dysplasia . . 0.96346 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3802 351459 5 14709412 A AT 301574 Benign Chondrocalcinosis|Craniometaphyseal_dysplasia . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3803 351468 5 14710035 T G 301588 Benign Chondrocalcinosis|Craniometaphyseal_dysplasia . . 0.96406 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3804 352675 5 16473838 C T 298709 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.40795 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3805 352681 5 16474644 T G 302950 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.32228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3806 352683 5 16474778 C CT 303128 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3807 518360 5 16477751 C A 508800 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.73082 0.66247 0.67712 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3808 673439 5 16478120 A G 660816 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3809 352689 5 16478200 G A 296804 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.73063 0.66612 0.67752 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3810 673438 5 16479151 A G 661117 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3811 670508 5 16479220 A G 661234 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3812 668135 5 16566212 C T 661064 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3813 286856 5 16617099 A G 271093 Benign not_specified . 0.85881 0.83946 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3814 617842 5 19591174 A G 609201 Uncertain_significance Speech-language_disorder_1 0.13863 0.1678 0.09585 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3815 197829 5 33951693 C G 194990 Benign not_specified . 0.6403 0.27496 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3816 197309 5 33954511 T C 194470 Benign not_specified 0.95925 0.89677 0.83307 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3817 353244 5 33988535 C T 303828 Benign/Likely_benign Oculocutaneous_albinism|Alpha-methylacyl-CoA_r... . . 0.19369 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3818 128360 5 33989518 C T 133809 Benign Oculocutaneous_albinism|Alpha-methylacyl-CoA_r... 0.75911 0.7016 0.69609 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3819 128359 5 33998768 C A 133808 Benign/Likely_benign Alpha-methylacyl-CoA_racemase_deficiency|not_s... 0.11995 0.12683 0.11442 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3820 128358 5 33998883 A G 133807 Benign Alpha-methylacyl-CoA_racemase_deficiency|not_s... 0.74865 . 0.71486 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3821 128357 5 34004707 C T 133806 Benign Alpha-methylacyl-CoA_racemase_deficiency|not_s... 0.38421 0.41077 0.2526 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3822 128356 5 34008100 C T 133805 Benign Alpha-methylacyl-CoA_racemase_deficiency|not_s... 0.41759 0.4227 0.28694 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3823 403471 5 35641582 A C 389694 Benign not_specified 0.59572 0.60606 0.67911 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3824 403472 5 35644621 T C 389682 Benign not_specified 0.68463 0.72204 0.78415 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3825 403473 5 35654711 C T 389695 Benign not_specified 0.59196 0.60123 0.67712 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3826 403475 5 35692775 T A 389697 Benign not_specified 0.26075 0.22232 0.35703 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3827 403477 5 35700598 T C 389646 Benign not_specified 0.56115 0.50955 0.4405 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3828 403478 5 35709095 C T 389685 Benign not_specified 0.75656 0.75556 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3829 403479 5 35709184 G C 389686 Benign not_specified 0.75609 0.75565 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3830 403481 5 35753715 T C 389667 Benign not_specified 0.54201 0.59335 0.50359 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3831 379998 5 36217997 T A 368624 Benign not_specified 0.33062 0.37641 0.32728 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3832 379997 5 36241922 G A 368629 Benign not_specified . 0.49859 0.25839 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3833 676272 5 36242007 G A 660886 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3834 379996 5 36242212 T C 368467 Benign not_specified . . 0.30931 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3835 353326 5 36686404 G A 297395 Benign Episodic_ataxia 0.23505 0.29768 . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3836 353336 5 36686886 A C 299438 Benign Episodic_ataxia . . 0.35044 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3837 353354 5 36687856 C T 297413 Benign Episodic_ataxia . . 0.20487 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3838 96333 5 36985303 A G 102227 Benign History_of_neurodevelopmental_disorder|Corneli... 0.11379 0.1322 0.1252 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3839 96340 5 37001074 A G 102234 Benign/Likely_benign not_specified 0.11318 0.13203 0.1268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3840 673933 5 37007629 T C 661216 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3841 673934 5 37019354 G A 661223 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3842 667677 5 37027258 C A 661340 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3843 96348 5 37036492 C T 102242 Benign History_of_neurodevelopmental_disorder|not_spe... 0.10298 0.22843 0.17153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3844 673993 5 37038517 A ATATG 661155 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3845 673935 5 37045841 A G 660889 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3846 667678 5 37061261 A G 661158 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3847 680164 5 37139291 T G 661225 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3848 197507 5 37139474 TA T 194668 Benign/Likely_benign Joubert_syndrome|not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3849 680162 5 37142778 G A 661233 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3850 671676 5 37154427 A G 660892 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3851 680161 5 37162855 T C 661342 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3852 680160 5 37169994 G A 661168 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3853 158048 5 37173930 A C 167895 Benign Joubert_syndrome|Joubert_syndrome_17|not_speci... 0.17577 0.13507 0.17272 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3854 680158 5 37175888 T TTTA 661235 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3855 158046 5 37176091 A G 167893 Benign/Likely_benign Joubert_syndrome|Joubert_syndrome_17|not_speci... 0.1487 0.12394 0.14237 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3856 158053 5 37247700 G A 167900 Benign Joubert_syndrome_17|not_specified . 0.99991 0.9998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3857 778866 5 37371059 G A 699089 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3858 353491 5 37814102 T C 304160 Likely_benign Hirschsprung_Disease,_Dominant . . 0.2476 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3859 353494 5 37814148 A G 304161 Benign Hirschsprung_Disease,_Dominant . . 0.53994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3860 353520 5 37839633 T C 304198 Benign Hirschsprung_Disease,_Dominant . . 0.40535 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3861 353538 5 38476528 A T 303799 Benign Stuve-Wiedemann_syndrome . . 0.14217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3862 353589 5 38480499 G A 299756 Uncertain_significance Stuve-Wiedemann_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3863 353602 5 38481335 C T 297587 Benign Stuve-Wiedemann_syndrome . . 0.72903 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3864 353617 5 38486065 C T 297598 Benign Stuve-Wiedemann_syndrome 0.18691 0.1909 0.13838 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3865 402465 5 39342308 C T 389704 Benign not_specified 0.60634 0.53642 0.6278 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3866 402466 5 39364554 G A 389708 Benign not_specified 0.36014 0.36427 0.28614 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3867 402458 5 41199959 G T 389633 Benign not_specified 0.60841 0.59361 0.55391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3868 353674 5 41870675 T C 297643 Benign Succinyl-CoA_acetoacetate_transferase_deficiency . . 0.19649 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3869 353677 5 42565967 T C 303980 Uncertain_significance Laron-type_isolated_somatotropin_defect 0.00054 0.00048 0.0002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3870 198051 5 42700044 A G 195212 Benign Laron-type_isolated_somatotropin_defect|not_sp... 0.63386 0.71216 0.64157 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3871 255404 5 42719082 C T 251971 Benign/Likely_benign Laron-type_isolated_somatotropin_defect|not_sp... 0.02191 0.02257 0.02057 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3872 8658 5 42719239 A C 23697 Benign Laron-type_isolated_somatotropin_defect|Famili... . 0.44339 0.44449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3873 353693 5 42719826 G A 303994 Benign Laron-type_isolated_somatotropin_defect . . 0.45567 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3874 353695 5 42720068 T TA 304005 Benign Laron-type_isolated_somatotropin_defect . . 0.81949 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3875 353706 5 42721023 TTTG T 304017 Benign Laron-type_isolated_somatotropin_defect . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3876 353708 5 42721080 G A 297656 Benign Laron-type_isolated_somatotropin_defect . . 0.78794 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3877 353723 5 44305309 C G 297679 Benign Congenital_absence_of_salivary_gland|Levy-Holl... 0.16239 0.21611 0.18391 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3878 353737 5 52344610 A G 299877 Benign Platelet-type_bleeding_disorder_9 0.75311 0.72126 0.70228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3879 353796 5 52387150 A C 297736 Benign Combined_molybdoflavoprotein_enzyme_deficiency... . . 0.79333 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3880 353800 5 52387323 C T 297741 Benign Combined_molybdoflavoprotein_enzyme_deficiency... . . 0.68011 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3881 353828 5 52388999 C T 297766 Benign/Likely_benign Combined_molybdoflavoprotein_enzyme_deficiency... . . 0.18371 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3882 353836 5 52389311 G GGTATGTTTAGC 304488 Uncertain_significance Platelet-type_bleeding_disorder_9 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3883 353841 5 52389455 A G 297779 Benign Combined_molybdoflavoprotein_enzyme_deficiency... . . 0.6901 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3884 353851 5 52389811 T TAAAG 299970 Benign Combined_molybdoflavoprotein_enzyme_deficiency... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3885 129699 5 52856504 G C 135145 Benign Leigh_syndrome|Mitochondrial_complex_I_deficie... 0.66154 0.62765 0.68091 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3886 683100 5 52941835 G A 661178 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3887 683102 5 52941905 A G 660908 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3888 129700 5 52942083 A C 135146 Benign Leigh_syndrome|Mitochondrial_complex_I_deficie... 0.96878 . 0.94349 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3889 129701 5 52942197 A G 135147 Benign Leigh_syndrome|Mitochondrial_complex_I_deficie... 0.79248 0.77345 0.80012 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3890 683104 5 52942408 TAA T 661246 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3891 683106 5 52942463 C T 661254 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3892 683108 5 52978722 C T 661351 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3893 353892 5 52979097 G A 304535 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficiency 0.4195 0.44849 0.37859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3894 403074 5 54516521 G A 389688 Benign not_specified . 0.61405 0.48842 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3895 261408 5 54528393 G C 251972 Benign not_specified 0.15961 . 0.17772 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3896 518361 5 56111751 G C 508801 Benign 46,XY_sex_reversal,_type_6 . 0.79554 0.6857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3897 518362 5 56152416 C A 508802 Benign 46,XY_sex_reversal,_type_6 0.69893 0.61321 0.52616 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3898 518363 5 56161787 G A 508803 Benign 46,XY_sex_reversal,_type_6 0.85301 0.8479 0.80431 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3899 518364 5 56177443 G A 508804 Benign 46,XY_sex_reversal,_type_6 0.65012 0.59835 0.47644 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3900 518365 5 56177743 G A 508805 Benign 46,XY_sex_reversal,_type_6 0.79847 0.7648 0.70827 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3901 435819 5 56177848 TCAA T 428439 Benign 46,XY_sex_reversal,_type_6|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3902 518366 5 56178217 A C 508806 Benign 46,XY_sex_reversal,_type_6 0.79947 . 0.70827 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3903 353926 5 58266490 G C 304270 Benign Acrodysostosis . . 0.64656 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3904 353936 5 58267557 C T 304283 Benign Acrodysostosis . . 0.64756 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3905 353937 5 58267723 A C 304604 Benign Acrodysostosis . . 0.64736 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3906 353941 5 58267976 T A 304619 Benign Acrodysostosis . . 0.58906 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3907 353992 5 58286625 C T 304670 Benign Acrodysostosis|not_specified 0.81654 0.83838 0.80931 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3908 354027 5 60240986 A G 297944 Benign Cockayne_syndrome|Leigh_syndrome|Mitochondrial... . . 0.72424 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3909 129691 5 60241142 G A 135137 Benign Cockayne_syndrome|Leigh_syndrome|Mitochondrial... . 0.63875 0.69289 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3910 671559 5 60369083 A G 661202 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3911 680678 5 60448276 A G 661357 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3912 380829 5 61642937 T C 368220 Benign not_specified 0.25254 0.30072 0.20986 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3913 682855 5 61643816 G A 661206 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3914 682860 5 61648738 T G 661381 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3915 682864 5 61649347 T A 661383 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3916 682867 5 61650843 G A 661267 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3917 682868 5 61651248 T C 660921 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3918 682871 5 61653757 C T 661386 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3919 682874 5 61654187 G C 661214 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3920 682872 5 61657228 T C 661219 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3921 682876 5 61657574 T C 660928 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3922 682877 5 61657586 T C 661271 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3923 668920 5 61658648 T A 661281 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3924 682879 5 61659339 C T 661227 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3925 682882 5 61662457 G A 661392 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3926 682886 5 61673670 A G 661398 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3927 682887 5 61676902 G T 661291 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3928 375667 5 63258565 C G 362497 drug_response not_specified|paroxetine_response_-_Efficacy . . 0.54673 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3929 769300 5 68396764 T TG 777613 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3930 43843 5 68720419 T G 53012 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.34236 . 0.28175 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3931 508084 5 70751818 T G 501602 Benign not_specified 0.76714 0.82475 0.77816 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3932 509130 5 70798553 A T 500910 Likely_benign not_specified|not_provided 0.00478 0.00562 0.00379 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3933 517819 5 70800475 C T 501380 Benign not_specified 0.28322 0.35386 0.32368 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3934 508085 5 70800538 G A 501609 Benign not_specified 0.44776 0.4618 0.43271 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3935 506538 5 70806457 G A 500913 Benign not_specified 0.45004 0.4631 0.4397 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3936 508086 5 70806649 T A 500915 Benign not_specified 0.45353 . 0.4399 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3937 508087 5 70806711 C G 501387 Benign not_specified 0.77186 0.82543 0.79074 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3938 508088 5 70806958 G A 501621 Benign not_specified 0.80291 0.83435 0.82109 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3939 682760 5 70807991 G A 661412 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3940 508127 5 70809169 A G 501630 Benign not_specified 0.42969 0.42652 0.39956 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3941 508592 5 70818150 C G 501633 Benign not_specified|not_provided 0.03182 0.02149 0.02017 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3942 506716 5 70837295 A C 501636 Benign not_specified 0.80378 0.83534 0.82268 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3943 508089 5 70840233 C T 501236 Benign not_specified 0.42819 0.42655 0.39896 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3944 508090 5 70849021 G T 501390 Benign not_specified 0.44997 0.46196 0.43271 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3945 517820 5 70858194 C T 501246 Benign not_specified 0.28482 0.35372 0.32368 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3946 684211 5 70882917 A T 661306 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3947 684213 5 70882950 C G 661319 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3948 261560 5 70922616 G A 251976 Benign not_specified 0.79683 0.83481 0.8135 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3949 684218 5 70927686 C T 660936 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3950 684219 5 70930509 T C 661415 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3951 96032 5 70930966 A G 101926 Benign 3-MCC_Deficiency|not_specified 0.28887 0.36733 0.33007 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3952 684220 5 70936643 C G 661417 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3953 684221 5 70939437 G A 661321 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3954 96029 5 70945075 A G 101923 Benign 3-MCC_Deficiency|not_specified 0.81324 0.87808 0.85144 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3955 684228 5 70948263 C T 661256 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3956 354106 5 70952934 C T 304413 Benign 3-MCC_Deficiency . . 0.8111 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3957 354124 5 70953885 C T 300210 Benign 3-MCC_Deficiency . . 0.32069 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3958 257378 5 73076511 C A 251987 Benign not_specified 0.56955 0.54797 0.57788 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3959 257359 5 73144845 A G 251992 Benign not_specified 0.67033 0.65144 0.67632 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3960 257363 5 73163861 C T 251996 Benign not_specified . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3961 257371 5 73205463 G A 252002 Benign not_specified 0.0256 0.05092 0.03514 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3962 257372 5 73205697 C G 252003 Benign not_specified 0.02543 0.05726 0.03654 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3963 257373 5 73205717 C T 252004 Benign not_specified 0.02682 0.04869 0.03474 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3964 257374 5 73207372 T A 252005 Benign not_specified 0.38488 0.38088 0.30232 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3965 680596 5 73980799 G C 661332 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3966 369506 5 73980960 C T 353735 Benign Sandhoff_disease|not_provided . . 0.51038 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3967 369507 5 73980963 GC G 353736 Benign Sandhoff_disease . . 0.51038 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3968 167173 5 73981270 T C 177767 Benign Sandhoff_disease|not_specified . 0.97082 0.98143 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3969 680598 5 73981662 G A 661334 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3970 681700 5 73985534 T C 660941 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3971 256360 5 73992609 G A 252011 Benign not_specified 0.90046 0.89184 0.85344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3972 93202 5 73992881 A G 99109 Benign/Likely_benign HEXB_POLYMORPHISM|Sandhoff_disease|not_specifi... 0.12748 0.15148 0.1284 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3973 137480 5 74017499 C T 141183 Benign not_specified 0.15816 . 0.1236 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3974 214504 5 74021846 TACTCAA T 211177 Benign not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3975 671623 5 74033944 C T 661336 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3976 137475 5 74034245 G A 141178 Benign not_specified 0.17231 0.12395 0.13918 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3977 137472 5 74037386 T A 141175 Benign not_specified 0.14265 0.13181 0.10843 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3978 676215 5 74054595 A G 660946 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3979 137481 5 74055209 T C 141184 Benign not_specified 0.18822 0.12846 0.15575 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3980 14903 5 74648603 A T 29942 association Low_density_lipoprotein_cholesterol_level_quan... . . 0.4357 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3981 354164 5 76708987 A G 304827 Benign Striatal_Degeneration 0.69514 0.70312 0.76518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3982 354179 5 76722443 G A 304539 Benign Striatal_Degeneration . . 0.66114 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3983 354185 5 76722816 A G 304845 Benign Striatal_Degeneration . . 0.05072 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3984 354192 5 76722891 T C 304550 Benign Striatal_Degeneration . . 0.44549 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3985 162753 5 77425028 A T 174289 Benign Hermansky-Pudlak_syndrome|not_specified 0.9328 0.86283 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3986 369509 5 78073025 T C 353738 Likely_benign Mucopolysaccharidosis_type_VI . . 0.05791 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3987 354256 5 78073039 A C 298115 Likely_benign Mucopolysaccharidosis_type_VI . . 0.07568 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3988 354262 5 78073245 C A 304685 Benign Mucopolysaccharidosis_type_VI . . 0.73742 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3989 354287 5 78074918 C A 298153 Benign Mucopolysaccharidosis_type_VI . . 0.5026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3990 354290 5 78074963 T G 300434 Likely_benign Mucopolysaccharidosis_type_VI . . 0.17133 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3991 680476 5 78181174 G A 661273 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3992 92350 5 78181477 C T 98261 Benign Mucopolysaccharidosis_type_VI|not_specified|no... 0.3247 0.39073 0.28554 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3993 92357 5 78181577 T C 98268 Benign/Likely_benign Mucopolysaccharidosis_type_VI|not_specified|no... 0.05236 0.05269 0.02656 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3994 680475 5 78181850 T C 661437 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3995 254739 5 78265041 A G 252018 Benign not_specified|not_provided 0.29903 0.3203 0.24301 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
3996 354323 5 78281373 T C 300479 Benign Mucopolysaccharidosis_type_VI . . 0.90515 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3997 354331 5 78281909 C CTG 300491 Benign Mucopolysaccharidosis_type_VI . . 0.95188 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3998 354338 5 78282249 T C 298198 Benign Mucopolysaccharidosis_type_VI . . 0.81629 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
3999 380066 5 78324352 A G 368577 Benign not_specified 0.34361 0.27984 0.30411 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4000 380065 5 78324482 T C 368583 Benign not_specified 0.34323 0.27983 0.30411 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4001 380064 5 78326750 G C 369960 Benign not_specified 0.34722 0.28077 0.30591 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4002 380063 5 78328560 G A 368740 Benign not_specified 0.20191 0.18876 0.19868 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4003 380019 5 78351636 A C 369997 Benign not_specified 0.63031 0.64482 0.65056 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4004 785801 5 79025290 G A 710026 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4005 157590 5 79950163 C CTGGCGCGTCCCGCCCAGGT 167452 Uncertain_significance Gastrointestinal_stroma_tumor . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4006 402590 5 79950741 GCCCCCAGCT G 389689 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4007 354395 5 82815158 A G 300534 Benign Vitreoretinopathy|Wagner_syndrome 0.03077 0.03171 0.01997 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4008 354396 5 82815170 A G 300536 Benign Vitreoretinopathy|Wagner_syndrome 0.03062 0.0315 0.01997 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4009 259361 5 82815408 G A 252024 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.17015 0.15265 0.21286 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4010 198803 5 82833145 G A 195963 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.67207 0.64776 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4011 167820 5 82833369 A G 176969 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.49862 0.484 0.47105 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4012 167823 5 82834299 G A 177101 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.38367 0.38105 0.35843 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4013 167824 5 82834630 T C 178145 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.49792 0.48379 0.46865 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4014 198797 5 82835545 A G 195957 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.497 0.48349 0.47045 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4015 198798 5 82835724 T A 195958 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.49546 . 0.46845 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4016 198802 5 82837631 G T 195962 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.3889 0.38119 0.36062 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4017 259379 5 82875800 C T 252038 Benign Vitreoretinopathy|Wagner_syndrome|not_specified 0.97478 0.9755 0.99201 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4018 354492 5 82877682 A G 305120 Benign Vitreoretinopathy|Wagner_syndrome . . 0.56889 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4019 354493 5 82877689 C T 304902 Benign Vitreoretinopathy|Wagner_syndrome . . 0.16993 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4020 354494 5 82877794 CT C 300623 Benign Vitreoretinopathy|Wagner_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4021 811536 5 86637164 G GA 799424 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4022 354570 5 88016008 A G 305013 Benign Intellectual_Disability,_Stereotypic_Movements... . . 0.70128 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4023 354574 5 88016153 A AT 305209 Benign Intellectual_Disability,_Stereotypic_Movements... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4024 670880 5 88045029 C A 661299 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4025 684337 5 88120079 C CCT 660958 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4026 354599 5 88179070 A AG 305082 Uncertain_significance Intellectual_Disability,_Stereotypic_Movements... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4027 670329 5 89918704 T C 660968 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4028 674374 5 89918725 T G 661390 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4029 670346 5 89918813 G C 661314 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4030 670347 5 89924976 C A 660973 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4031 46305 5 89938587 C T 55470 Benign not_specified 0.74864 0.7322 0.82129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4032 678787 5 89939067 G A 661461 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4033 678814 5 89940036 G C 660987 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4034 46313 5 89943571 G T 55478 Benign not_specified 0.72749 . 0.8103 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4035 678816 5 89943699 G A 661465 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4036 678817 5 89947247 C T 661007 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4037 678818 5 89954184 T C 661408 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4038 678794 5 89968626 A T 661470 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4039 678796 5 89968773 G A 661009 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4040 678797 5 89975629 T A 661010 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4041 158652 5 89979380 T C 168549 Benign not_specified|not_provided 0.29722 0.48685 0.32268 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4042 46343 5 89979589 G A 55508 Benign not_specified 0.72752 0.70777 0.80371 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4043 46345 5 89979698 C T 55510 Benign not_specified 0.30536 0.35417 0.33726 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4044 46356 5 89985882 A G 55521 Benign not_specified 0.3181 0.38742 0.34984 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4045 46358 5 89988412 G A 55523 Benign not_specified 0.29178 0.38547 0.32209 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4046 46360 5 89988504 A G 55525 Benign not_specified 0.29139 0.3729 0.32228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4047 46365 5 89989779 G A 55530 Benign not_specified|not_provided 0.2903 0.35745 0.32209 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4048 46379 5 89990324 A G 55544 Benign not_specified 0.73126 0.70901 0.80851 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4049 158654 5 89990545 C A 168551 Benign not_specified|not_provided 0.54739 . 0.64717 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4050 674377 5 89993045 T C 661414 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4051 678800 5 89999968 A G 661324 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4052 674378 5 90001988 G T 661335 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4053 678801 5 90006552 T G 661416 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4054 674379 5 90007196 C T 661012 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4055 678802 5 90007288 T A 661343 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4056 46403 5 90012379 G A 55568 Benign not_specified 0.06503 0.06861 0.04653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4057 674380 5 90012614 A T 661471 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4058 678803 5 90012703 G A 661473 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4059 674381 5 90015792 C T 661474 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4060 674382 5 90016129 A G 661015 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4061 158656 5 90020868 A C 168553 Benign not_specified|not_provided 0.71721 0.71052 0.79812 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4062 46409 5 90020923 T G 55574 Benign not_specified 0.29627 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4063 158642 5 90021499 G T 168554 Likely_benign not_specified . 0.56979 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4064 678805 5 90021691 C T 661476 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4065 678806 5 90024277 T C 661420 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4066 46248 5 90024735 G A 55413 Benign not_specified|not_provided 0.75296 0.74838 0.82907 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4067 674384 5 90041161 G A 661422 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4068 46252 5 90041510 A G 55417 Benign not_specified|not_provided 0.03483 0.03008 0.01737 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4069 674385 5 90049238 A G 661359 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4070 46256 5 90052263 T TC 55421 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4071 46257 5 90052289 G A 55422 Benign not_specified 0.2529 0.34647 0.29613 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4072 46258 5 90052372 C T 55423 Benign not_specified|not_provided 0.52035 0.48302 0.53934 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4073 674386 5 90053056 A G 661490 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4074 678807 5 90059001 T A 661424 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4075 667602 5 90073390 A G 661371 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4076 46268 5 90079820 A G 55433 Benign not_specified 0.16515 0.17239 0.09225 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4077 678810 5 90103785 T G 661382 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4078 46282 5 90107108 A G 55447 Benign not_specified 0.93612 0.96857 0.94609 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4079 678812 5 90111700 T C 661441 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4080 46285 5 90119324 G A 55450 Benign not_specified 0.9721 0.99201 0.97224 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4081 678813 5 90150228 A G 661028 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4082 46291 5 90151589 G A 55456 Benign Usher_syndrome,_type_2C|not_specified 0.43475 0.53931 0.45907 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4083 678815 5 90368596 C T 661029 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4084 46299 5 90449031 T C 55464 Benign not_specified 0.91668 0.9264 0.89836 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4085 46300 5 90449154 G A 55465 Benign not_specified 0.11756 0.12751 0.13818 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4086 354634 5 95728440 A G 300730 Likely_benign Proprotein_convertase_1/3_deficiency|Monogenic... . . 0.16673 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4087 771152 5 98205532 T C 699223 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4088 683978 5 110075414 C A 660814 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4089 671100 5 110092160 A G 660456 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4090 671104 5 110092531 A G 660824 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4091 668632 5 110096939 G A 655620 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4092 262466 5 110439509 A G 251609 Benign Primary_open_angle_glaucoma|not_specified 0.23854 0.31847 0.25739 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4093 262465 5 110456704 A T 251610 Benign Primary_open_angle_glaucoma|not_specified|not_... 0.2393 0.32083 0.25919 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4094 350362 5 110463631 T G 300351 Benign Primary_open_angle_glaucoma . . 0.03694 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4095 350370 5 110464008 T C 300356 Benign Primary_open_angle_glaucoma . . 0.15455 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4096 82711 5 112064475 A T 93602 other Familial_colorectal_cancer . . 0.3728 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4097 82712 5 112064826 G C 93603 other Familial_colorectal_cancer . . 0.98742 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4098 82715 5 112066524 G C 93606 other Familial_colorectal_cancer . . 0.98482 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4099 82717 5 112067142 C T 93608 other Familial_colorectal_cancer . . 0.21266 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4100 82742 5 112074269 A G 93633 other Familial_colorectal_cancer . . 0.4359 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4101 82744 5 112074356 C T 93635 other Familial_colorectal_cancer . . 0.60144 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4102 82748 5 112074722 C G 93639 other Familial_colorectal_cancer . . 0.4365 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4103 82756 5 112077447 T A 93647 other Familial_colorectal_cancer . . 0.43091 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4104 82760 5 112077770 A G 93651 other Familial_colorectal_cancer . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4105 82761 5 112077920 G C 93652 other Familial_colorectal_cancer . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4106 82766 5 112079882 T G 93657 other Familial_colorectal_cancer . . 0.4365 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4107 82770 5 112080728 G A 93661 other Familial_colorectal_cancer . . 0.21346 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4108 82779 5 112081924 A G 93670 other Familial_colorectal_cancer . . 0.4365 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4109 82795 5 112085611 T G 93686 other Familial_colorectal_cancer . . 0.4369 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4110 82799 5 112086165 T A 93690 other Familial_colorectal_cancer . . 0.4355 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4111 82801 5 112087327 T G 93692 other Familial_colorectal_cancer . . 0.61941 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4112 82807 5 112088507 G A 93698 other Familial_colorectal_cancer . . 0.98223 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4113 82809 5 112089282 T C 93700 other Familial_colorectal_cancer . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4114 82811 5 112089480 T C 93702 other Familial_colorectal_cancer . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4115 82823 5 112091704 C G 93714 other Familial_colorectal_cancer . . 0.60483 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4116 82824 5 112092402 T G 93715 other Familial_colorectal_cancer . . 0.4379 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4117 88625 5 112093955 A G 94223 other Familial_colorectal_cancer . . 0.98283 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4118 82829 5 112094404 G A 93720 other Familial_colorectal_cancer . . 0.60324 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4119 82832 5 112095332 G A 93723 other Familial_colorectal_cancer . . 0.1895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4120 82836 5 112095775 T A 93727 other Familial_colorectal_cancer . . 0.43371 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4121 82840 5 112097234 G A 93731 other Familial_colorectal_cancer . . 0.43111 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4122 82843 5 112097757 A G 93734 other Familial_colorectal_cancer . . 0.45407 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4123 82845 5 112098911 G A 93736 other Familial_colorectal_cancer . . 0.98263 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4124 82846 5 112098938 T A 93737 other Familial_colorectal_cancer . . 0.4379 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4125 82847 5 112099028 A G 93738 other Familial_colorectal_cancer . . 0.4371 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4126 82859 5 112100027 G A 93750 other Familial_colorectal_cancer . . 0.62101 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4127 82863 5 112100595 A C 93754 other Familial_colorectal_cancer . . 0.9972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4128 82868 5 112101457 G T 93759 other Familial_colorectal_cancer . . 0.54293 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4129 82869 5 112101496 G A 93760 other Familial_colorectal_cancer . . 0.98243 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4130 82871 5 112101793 C A 93762 other Familial_colorectal_cancer . . 0.73782 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4131 82878 5 112103963 C G 93769 other Familial_colorectal_cancer . . 0.4375 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4132 82880 5 112104297 A G 93771 other Familial_colorectal_cancer . . 0.4383 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4133 82884 5 112105223 A T 93775 other Familial_colorectal_cancer . . 0.43291 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4134 82887 5 112107058 G A 93778 other Familial_colorectal_cancer . . 0.4349 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4135 82889 5 112107726 C T 93780 other Familial_colorectal_cancer . . 0.43251 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4136 82896 5 112108865 T C 93787 other Familial_colorectal_cancer . . 0.45587 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4137 82901 5 112109779 G C 93792 other Familial_colorectal_cancer . . 0.63179 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4138 82910 5 112111070 G A 93801 other Familial_colorectal_cancer . . 0.98243 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4139 82915 5 112111866 G C 93806 other Familial_colorectal_cancer . . 0.43191 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4140 82924 5 112113527 A T 93815 other Familial_colorectal_cancer . . 0.4381 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4141 82925 5 112113735 C T 93816 other Familial_colorectal_cancer . . 0.44549 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4142 82926 5 112113760 T C 93817 other Familial_colorectal_cancer . . 0.7484 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4143 82927 5 112113772 G A 93818 other Familial_colorectal_cancer . . 0.4361 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4144 82934 5 112116024 C T 93825 other Familial_colorectal_cancer . . 0.52496 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4145 82935 5 112116069 G A 93826 other Familial_colorectal_cancer . . 0.64916 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4146 82939 5 112116773 A G 93830 other Familial_colorectal_cancer . . 0.45208 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4147 82948 5 112118195 G A 93839 other Familial_colorectal_cancer . . 0.61721 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4148 82950 5 112118956 C T 93841 other Familial_colorectal_cancer . . 0.43351 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4149 82966 5 112122532 G C 93857 other Familial_colorectal_cancer . . 0.44309 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4150 82980 5 112124369 T C 93871 other Familial_colorectal_cancer . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4151 83012 5 112130086 C A 93903 other Familial_colorectal_cancer . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4152 83018 5 112131288 A G 93909 other Familial_colorectal_cancer . . 0.46665 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4153 83019 5 112131787 A G 93910 other Familial_colorectal_cancer . . 0.44988 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4154 83030 5 112135067 T C 93921 other Familial_colorectal_cancer . . 0.99101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4155 83031 5 112135090 G A 93922 other Familial_colorectal_cancer . . 0.44309 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4156 83036 5 112135737 A G 93927 other Familial_colorectal_cancer . . 0.4389 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4157 83037 5 112136204 A G 93928 other Familial_colorectal_cancer . . 0.4389 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4158 83046 5 112138734 G A 93937 other Familial_colorectal_cancer . . 0.74661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4159 83047 5 112138888 G C 93938 other Familial_colorectal_cancer . . 0.66534 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4160 83049 5 112139745 A G 93940 other Familial_colorectal_cancer . . 0.4381 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4161 83070 5 112144023 A G 93961 other Familial_colorectal_cancer . . 0.44189 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4162 83071 5 112144444 A T 93962 other Familial_colorectal_cancer . . 0.4349 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4163 83073 5 112144954 T C 93964 other Familial_colorectal_cancer . . 0.73922 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4164 83075 5 112145261 C A 93966 other Familial_colorectal_cancer . . 0.43231 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4165 83081 5 112146197 T G 93972 other Familial_colorectal_cancer . . 0.4361 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4166 83089 5 112149757 T C 93980 other Familial_colorectal_cancer . . 0.78514 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4167 83110 5 112153119 C T 94001 other Familial_colorectal_cancer . . 0.69469 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4168 83112 5 112153495 A G 94003 other Familial_colorectal_cancer . . 0.74661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4169 83113 5 112153665 C T 94004 other Familial_colorectal_cancer . . 0.69509 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4170 83118 5 112153996 C G 94009 other Familial_colorectal_cancer . . 0.73722 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4171 83121 5 112154303 T G 94012 other Familial_colorectal_cancer . . 0.70567 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4172 83127 5 112155504 C G 94018 other Familial_colorectal_cancer . . 0.73722 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4173 83128 5 112155793 G C 94019 other Familial_colorectal_cancer . . 0.68391 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4174 83136 5 112158431 G A 94027 other Familial_colorectal_cancer . . 0.67911 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4175 83139 5 112159385 A G 94030 other Familial_colorectal_cancer . . 0.99101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4176 83140 5 112159470 A G 94031 other Familial_colorectal_cancer . . 0.4357 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4177 83142 5 112159562 A G 94033 other Familial_colorectal_cancer . . 0.81629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4178 83152 5 112161469 C A 94043 other Familial_colorectal_cancer . . 0.4381 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4179 83157 5 112162413 A G 94048 other Familial_colorectal_cancer . . 0.49701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4180 42238 5 112162854 T C 51408 Benign Hepatocellular_carcinoma|Neoplasm_of_stomach|C... 0.46217 0.57798 0.50998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4181 83162 5 112164238 C T 94053 other Familial_colorectal_cancer . . 0.67412 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4182 42239 5 112164561 G A 51409 Benign Hereditary_cancer-predisposing_syndrome|Famili... 0.58644 0.64811 0.66613 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4183 83163 5 112164862 G A 94054 other Familial_colorectal_cancer . . 0.4399 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4184 83181 5 112166862 G A 94072 other Familial_colorectal_cancer . . 0.43211 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4185 83182 5 112167130 T G 94073 other Familial_colorectal_cancer . . 0.6901 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4186 83183 5 112167587 T C 94074 other Familial_colorectal_cancer . . 0.43391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4187 83184 5 112167821 C T 94075 other Familial_colorectal_cancer . . 0.62001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4188 83185 5 112167941 C G 94076 other Familial_colorectal_cancer . . 0.62061 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4189 83186 5 112168065 A G 94077 other Familial_colorectal_cancer . . 0.62021 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4190 83187 5 112168130 G C 94078 other Familial_colorectal_cancer . . 0.62001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4191 83196 5 112169525 T A 94087 other Familial_colorectal_cancer . . 0.73722 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4192 83209 5 112170358 G A 94100 other Familial_colorectal_cancer . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4193 83226 5 112172219 G A 94117 other Familial_colorectal_cancer . . 0.67752 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4194 83228 5 112172786 G T 94119 other Familial_colorectal_cancer . . 0.67552 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4195 83229 5 112172930 T C 94120 other Familial_colorectal_cancer . . 0.5006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4196 42242 5 112175770 G A 51412 Benign Hereditary_cancer-predisposing_syndrome|Famili... 0.58622 0.64857 0.66554 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4197 42243 5 112176325 G A 51413 Benign Hereditary_cancer-predisposing_syndrome|Famili... 0.59013 0.65139 0.66673 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4198 42245 5 112176559 T G 51415 Benign Hereditary_cancer-predisposing_syndrome|Famili... 0.58799 . 0.66693 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4199 21030 5 112176756 T A 33882 Benign Hereditary_cancer-predisposing_syndrome|Famili... 0.82626 0.79811 0.86542 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4200 42247 5 112177171 G A 51417 Benign Hereditary_cancer-predisposing_syndrome|Famili... 0.58691 0.64881 0.66653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4201 350430 5 112180228 C CA 300417 Benign APC-Associated_Polyposis_Disorders . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4202 83260 5 112180921 T C 94151 Benign Familial_colorectal_cancer|APC-Associated_Poly... . . 0.4369 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4203 83262 5 112181379 C G 94153 Benign Familial_colorectal_cancer|APC-Associated_Poly... . . 0.44189 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4204 83263 5 112181576 G A 94154 Benign Familial_colorectal_cancer|APC-Associated_Poly... . . 0.69728 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4205 83268 5 112182232 A T 94159 other Familial_colorectal_cancer . . 0.69768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4206 83272 5 112182379 G A 94163 other Familial_colorectal_cancer . . 0.69768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4207 83275 5 112182691 A G 94166 other Familial_colorectal_cancer . . 0.51757 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4208 83276 5 112183157 A G 94167 other Familial_colorectal_cancer . . 0.44669 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4209 83284 5 112184490 T C 94175 other Familial_colorectal_cancer . . 0.46286 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4210 83292 5 112185393 A C 94183 other Familial_colorectal_cancer . . 0.70567 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4211 83296 5 112185451 A G 94187 other Familial_colorectal_cancer . . 0.70627 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4212 83297 5 112185491 A G 94188 other Familial_colorectal_cancer . . 0.70587 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4213 83298 5 112185513 A C 94189 other Familial_colorectal_cancer . . 0.44629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4214 83300 5 112186064 C A 94191 other Familial_colorectal_cancer . . 0.72923 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4215 769303 5 112406785 G GCCTCGCGCTGTCTT 777467 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4216 769304 5 115249078 C T 698737 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4217 350457 5 118788196 C G 294951 Benign Bifunctional_peroxisomal_enzyme_deficiency|Per... . . 0.40635 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4218 198079 5 118811533 G A 195240 Benign Bifunctional_peroxisomal_enzyme_deficiency|Per... . 0.44004 0.36262 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4219 226667 5 118861713 A G 229226 Benign Bifunctional_peroxisomal_enzyme_deficiency|Per... 0.40441 0.41099 0.40016 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4220 350475 5 118877933 T TA 296734 Benign Bifunctional_peroxisomal_enzyme_deficiency|Per... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4221 14363 5 121413208 C T 29402 Benign LYSYL_OXIDASE_POLYMORPHISM . 0.17281 0.15675 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4222 769305 5 122425971 A ACCTCCGCCT 698749 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4223 350520 5 125877635 A G 295016 Benign Pyridoxine-dependent_epilepsy . . 0.47185 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4224 350531 5 125878158 C T 300529 Benign Pyridoxine-dependent_epilepsy . . 0.48562 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4225 350545 5 125878908 CA AT 296855 Uncertain_significance Pyridoxine-dependent_epilepsy . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4226 350549 5 125878954 CA C 300605 Benign Pyridoxine-dependent_epilepsy . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4227 350560 5 125879549 C T 295051 Benign Pyridoxine-dependent_epilepsy . . 0.49161 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4228 350571 5 125879850 G C 300644 Benign Pyridoxine-dependent_epilepsy . . 0.57588 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4229 350580 5 125880589 T C 300539 Benign Pyridoxine-dependent_epilepsy 0.4343 . 0.36062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4230 670821 5 125886071 C T 660644 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4231 667962 5 125895313 T C 660703 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4232 674701 5 125896918 C A 660704 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4233 350588 5 125930950 C T 300549 Benign/Likely_benign Pyridoxine-dependent_epilepsy . 0.03423 0.01238 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4234 350622 5 126171999 T C 300706 Benign Leukodystrophy,_Adult-Onset 0.65259 0.67513 0.67272 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4235 350623 5 126172195 C T 300712 Benign Leukodystrophy,_Adult-Onset . . 0.44788 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4236 350631 5 126626645 G A 295112 Likely_benign Myopathy,_areflexia,_respiratory_distress,_and... . . 0.34066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4237 683157 5 126674613 A G 660863 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4238 683182 5 126738041 A C 660679 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4239 262060 5 126746277 C T 251627 Benign Myopathy,_areflexia,_respiratory_distress,_and... 0.94095 0.94472 0.97344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4240 683183 5 126746434 G A 660509 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4241 671490 5 126756195 G C 660683 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4242 262065 5 126769146 T C 251629 Benign/Likely_benign Myopathy,_areflexia,_respiratory_distress,_and... 0.19653 0.16239 0.19149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4243 671492 5 126773859 A C 660868 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4244 671513 5 126790841 T G 660775 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4245 262075 5 126791282 G A 251637 Benign/Likely_benign Myopathy,_areflexia,_respiratory_distress,_and... 0.1437 0.14196 0.12061 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4246 262076 5 126792974 T A 251638 Benign/Likely_benign Myopathy,_areflexia,_respiratory_distress,_and... 0.49339 0.52751 0.378 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4247 350677 5 126793219 C G 300797 Benign Myopathy,_areflexia,_respiratory_distress,_and... . . 0.64157 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4248 350681 5 126793635 A G 300798 Likely_benign Myopathy,_areflexia,_respiratory_distress,_and... . . 0.08087 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4249 350700 5 126795159 G A 295172 Likely_benign Myopathy,_areflexia,_respiratory_distress,_and... . . 0.24581 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4250 350703 5 126795246 C A 300658 Benign Myopathy,_areflexia,_respiratory_distress,_and... . . 0.63978 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4251 350713 5 126796531 TCA T 297005 Likely_benign Myopathy,_areflexia,_respiratory_distress,_and... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4252 350717 5 126796585 T G 300673 Benign Myopathy,_areflexia,_respiratory_distress,_and... . . 0.64717 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4253 350743 5 127594512 T C 295239 Benign Congenital_contractural_arachnodactyly . . 0.98562 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4254 683537 5 127610002 C T 660909 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4255 678490 5 127611499 A T 660546 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4256 683536 5 127613299 G T 660914 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4257 672325 5 127613791 C G 660922 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4258 129049 5 127614472 A G 134495 Benign Congenital_contractural_arachnodactyly|not_spe... 0.67792 0.72811 0.72664 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4259 137347 5 127622983 C T 141050 Benign Congenital_contractural_arachnodactyly|not_spe... 0.44357 0.51842 0.35763 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4260 137345 5 127625559 T C 141048 Benign Congenital_contractural_arachnodactyly|not_spe... 0.12631 0.19683 0.14417 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4261 672323 5 127638464 A C 660957 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4262 673344 5 127638553 T C 660801 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4263 671004 5 127640861 A G 660745 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4264 672322 5 127645287 T A 660807 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4265 672321 5 127648188 G A 660965 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4266 683531 5 127668991 C T 660969 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4267 672318 5 127671924 A G 660562 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4268 683530 5 127674132 G A 660564 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4269 669972 5 127675017 C T 660762 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4270 678489 5 127680818 C T 660847 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4271 683529 5 127681574 G A 660785 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4272 129039 5 127685135 C T 134485 Benign Congenital_contractural_arachnodactyly|not_spe... . 0.72339 0.73103 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4273 669639 5 127744825 C T 660991 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4274 674265 5 127854758 C T 660866 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4275 674264 5 127854848 T A 660995 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4276 350798 5 127873605 T C 295269 Benign Congenital_contractural_arachnodactyly . . 0.4375 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4277 675097 5 127873807 C T 660812 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4278 774633 5 130764699 A T 698766 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4279 5750 5 131676320 C T 20789 Benign SLC22A4_POLYMORPHISM . 0.29127 0.13439 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4280 350806 5 131705458 C G 300783 Benign Renal_carnitine_transport_defect . . 0.73303 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4281 94099 5 131705949 T C 99999 Benign Renal_carnitine_transport_defect|not_specified... 0.3497 0.49683 0.48622 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4282 670572 5 131714409 C T 661014 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4283 25382 5 131719999 A G 36716 Benign Renal_carnitine_transport_defect|not_specified... . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4284 25383 5 131720070 A G 36717 Benign Renal_carnitine_transport_defect . . 0.48602 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4285 94101 5 131721174 A G 100001 Benign Renal_carnitine_transport_defect|not_specified... 0.37829 0.43926 0.48622 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4286 94102 5 131721204 T C 100002 Benign Renal_carnitine_transport_defect|not_specified... 0.3739 0.4399 0.48602 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4287 670106 5 131724950 T C 660900 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4288 670107 5 131729118 A C 660851 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4289 350820 5 131730052 CA C 300792 Benign Renal_carnitine_transport_defect . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4290 350827 5 131730807 T C 300804 Benign Renal_carnitine_transport_defect . . 0.74421 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4291 350831 5 131730923 A AC 300759 Benign Renal_carnitine_transport_defect . . 0.76737 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4292 14673 5 131995964 A G 29712 risk_factor Allergic_rhinitis,_susceptibility_to|Asthma,_s... . 0.73363 0.73003 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4293 137459 5 132198100 C T 141162 Benign not_specified 0.18553 0.14263 0.13478 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4294 350851 5 132203952 G A 295333 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_... . . 0.10543 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4295 350852 5 132203997 A G 300854 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_... . . 0.17073 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4296 350854 5 132204031 G A 295343 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_... . . 0.04792 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4297 286868 5 134364518 C G 271105 Benign not_specified 0.21659 0.30014 0.31989 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4298 218643 5 136834138 T C 215308 Benign not_specified 0.00884 0.00923 0.00379 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4299 350923 5 136953577 T C 301103 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.6266 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4300 350942 5 136954719 T C 297212 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.6268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4301 350943 5 136954861 A G 297218 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.30032 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4302 350956 5 136955707 T G 301170 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.1236 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4303 350965 5 136956477 G A 301186 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.29553 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4304 350976 5 136957466 TAC T 295447 Uncertain_significance Pseudohypoaldosteronism_type_1_autosomal_dominant . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4305 260809 5 137028029 T C 251708 Benign Pseudohypoaldosteronism_type_1_autosomal_domin... 0.77903 0.7926 0.82808 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4306 167317 5 137206560 A C 177851 Benign Myofibrillar_myopathy_3|not_specified 0.98516 0.99591 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4307 667621 5 137211268 T G 661034 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4308 770357 5 137527948 C T 777510 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4309 670083 5 138356756 G A 660862 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4310 670082 5 138356775 C A 660653 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4311 670081 5 138357211 A G 660870 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4312 670080 5 138362283 C T 660657 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4313 670079 5 138386859 C A 660912 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4314 96085 5 138456815 T C 101979 Benign Marinesco-Sjögren_syndrome|not_specified|not_p... 0.51422 0.43544 0.42692 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4315 351111 5 138609609 C G 297367 Benign Distal_myopathy . 0.63249 0.42033 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4316 351117 5 138642997 A AT 297372 Benign Distal_myopathy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4317 263207 5 138643062 T A 251790 Benign Distal_myopathy|not_specified 0.54422 . 0.44649 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4318 351158 5 138665756 G A 301471 Benign Distal_myopathy . 0.62354 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4319 351170 5 138666372 T G 297420 Benign Distal_myopathy . 0.65741 0.39996 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4320 403550 5 138857919 T C 389615 Benign Sting-associated_vasculopathy,_infantile-onset... 0.87006 0.87599 0.8728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4321 403551 5 138861146 C G 389619 Benign not_specified 0.53929 . 0.42851 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4322 671555 5 140077699 A G 660924 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4323 769659 5 140475980 G A 698859 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4324 768037 5 140559532 G C 698871 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4325 768038 5 140580931 C G 698873 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4326 351285 5 140896402 G A 301552 Uncertain_significance Nonsyndromic_Hearing_Loss,_Mixed 0.00103 . 0.0006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4327 683199 5 140896599 T C 660930 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4328 512678 5 141336264 G T 501336 Benign not_specified 0.63286 . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4329 351314 5 142657621 T C 301396 Likely_benign Glucocorticoid_resistance,_generalized . . 0.08387 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4330 351321 5 142658156 C A 301406 Likely_benign Glucocorticoid_resistance,_generalized . . 0.40156 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4331 214569 5 145500084 A C 211128 Benign not_specified 0.00054 0.00293 0.0022 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4332 684159 5 145512951 G C 660876 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4333 671557 5 145515379 C T 660882 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4334 684157 5 145524514 A G 661069 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4335 684150 5 145533786 A T 661071 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4336 684148 5 145537535 C T 661081 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4337 684146 5 145539259 G C 660699 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4338 684138 5 145543579 G A 660705 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4339 684128 5 145552542 T C 660997 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4340 673294 5 147445023 C G 660897 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4341 260048 5 147450028 C T 251798 Benign/Likely_benign Netherton_syndrome|not_specified 0.03674 0.04822 0.06689 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4342 677108 5 147450247 A G 660925 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4343 667627 5 147451416 A G 661089 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4344 139254 5 147466001 G A 142957 Benign/Likely_benign Netherton_syndrome|not_specified 0.02304 0.04423 0.05232 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4345 673397 5 147474357 A T 660932 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4346 673297 5 147475627 G A 660721 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4347 677116 5 147478574 C G 660723 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4348 139258 5 147480080 G A 142961 Benign Netherton_syndrome|not_specified 0.23171 0.2119 0.34824 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4349 677118 5 147486359 C T 660736 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4350 139261 5 147492461 T C 142964 Benign/Likely_benign Netherton_syndrome|not_specified 0.02634 0.04478 0.05391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4351 674424 5 147493780 T G 661102 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4352 677139 5 147498849 C T 661106 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4353 667633 5 147503820 A C 661129 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4354 139263 5 147504315 A T 142966 Benign Netherton_syndrome|not_specified 0.70858 0.80848 0.82927 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4355 674283 5 147504905 A G 661132 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4356 351541 5 147506593 A G 295922 Benign/Likely_benign Netherton_syndrome 0.02355 0.02471 0.01018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4357 351546 5 147516598 T C 295931 Benign Netherton_syndrome 0.44147 0.41167 0.49101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4358 351549 5 147516762 C G 301666 Benign Netherton_syndrome . . 0.49101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4359 351553 5 147516914 A ACTC 295937 Benign Netherton_syndrome . . 0.49101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4360 225937 5 148206440 G A 227753 drug_response salbutamol_response_-_Efficacy|salmeterol_resp... . 0.42036 0.47564 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4361 351562 5 148361720 A AT 301872 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4362 351593 5 148364355 A G 296006 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.80232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4363 351594 5 148364701 C T 296012 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.47165 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4364 351605 5 148365234 T C 301704 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.50919 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4365 351609 5 148365720 C A 301939 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.79732 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4366 351616 5 148366571 T C 296023 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.6234 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4367 351622 5 148367324 A G 297801 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.78814 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4368 351634 5 148367643 C T 297822 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.46126 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4369 351643 5 148368254 T G 301736 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.61801 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4370 351645 5 148368451 A G 297828 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.79812 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4371 351658 5 148369418 G T 302017 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.19728 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4372 351661 5 148369508 A T 302031 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.49361 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4373 351664 5 148369712 C T 301788 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.19788 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4374 351694 5 148372884 T C 301849 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.52975 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4375 351748 5 148375651 CA C 301874 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4376 351758 5 148376026 C G 301896 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.19828 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4377 351761 5 148376163 T G 302127 Uncertain_significance Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4378 351769 5 148376982 G A 301906 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.49221 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4379 351801 5 148378475 G A 301946 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.20288 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4380 351808 5 148378784 C T 302199 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.52915 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4381 351835 5 148380580 A T 297965 Uncertain_significance Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.00719 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4382 351839 5 148381078 A G 301974 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.34964 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4383 351841 5 148381138 C T 302232 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.99042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4384 351843 5 148381197 G A 302233 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.52975 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4385 351848 5 148381318 G A 297978 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4386 351866 5 148382365 C A 297984 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.20347 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4387 351868 5 148382635 A G 297996 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . . 0.20367 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4388 351874 5 148383345 C G 301987 Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... . 0.29191 0.3127 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4389 130299 5 148386525 T G 135746 Benign/Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... 0.45971 . 0.38339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4390 670077 5 148389608 G C 661049 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4391 673389 5 148389763 G A 660956 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4392 671720 5 148392362 A G 660749 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4393 672628 5 148392538 C T 660966 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4394 130298 5 148407708 A C 135745 Benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... 0.9777 0.97847 0.99062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4395 130297 5 148407893 C A 135744 Benign/Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... 0.23828 . 0.19629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4396 130296 5 148408101 A G 135743 Benign/Likely_benign Mononeuropathy_of_the_Median_Nerve|Charcot-Mar... 0.4847 0.44561 0.4371 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4397 670074 5 148411369 C T 661150 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4398 684359 5 148432061 C A 661051 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4399 684358 5 148443080 T C 661057 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4400 2039 5 149212243 G C 17078 Benign Obesity,_variation_in . 0.09619 0.10963 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4401 351948 5 149238348 T C 298082 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.53914 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4402 351954 5 149238449 A G 302356 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.54633 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4403 351962 5 149239093 C T 296264 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.5597 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4404 351970 5 149239662 T C 298085 Benign Retinitis_Pigmentosa,_Recessive . . 0.58406 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4405 351971 5 149239702 A G 302383 Benign Retinitis_Pigmentosa,_Recessive . . 0.59625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4406 351972 5 149239850 A G 296270 Benign Retinitis_Pigmentosa,_Recessive . . 0.58427 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4407 351975 5 149240216 A AT 302132 Likely_benign Retinitis_Pigmentosa,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4408 138632 5 149323772 G A 142335 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Recessive 0.17546 0.19982 0.249 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4409 138637 5 149323906 T G 142340 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Recessive 0.20737 . 0.28255 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4410 65559 5 149360630 C T 76467 Benign/Likely_benign Achondrogenesis|Osteochondrodysplasia|Diastrop... 0.0153 0.01692 0.00759 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4411 196209 5 149360877 T C 193370 Benign Achondrogenesis|Osteochondrodysplasia|Diastrop... 0.99323 0.99277 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4412 352046 5 149362400 T G 302205 Benign Achondrogenesis|Osteochondrodysplasia|Diastrop... . . 0.27396 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4413 352075 5 149364780 C T 302455 Benign Achondrogenesis|Osteochondrodysplasia|Diastrop... . . 0.99201 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4414 352088 5 149365836 GT G 302486 Benign Achondrogenesis|Osteochondrodysplasia|Diastrop... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4415 352107 5 149433120 A G 302554 Benign Hereditary_diffuse_leukoencephalopathy_with_sp... . . 0.11601 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4416 352114 5 149433400 G GC 302563 Benign Hereditary_diffuse_leukoencephalopathy_with_sp... . . 0.45228 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4417 352165 5 149457678 G A 302347 Benign Hereditary_diffuse_leukoencephalopathy_with_sp... 0.4807 0.51531 0.38738 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4418 352179 5 149460553 A G 302657 Benign Hereditary_diffuse_leukoencephalopathy_with_sp... 0.4737 0.48718 0.33526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4419 258779 5 149495395 T C 251818 Benign not_specified 0.39897 0.34743 0.28534 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4420 258778 5 149497177 T C 251819 Benign not_specified 0.41066 0.3564 0.29892 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4421 712760 5 149499618 G A 721302 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4422 258776 5 149499672 T C 251821 Benign not_specified 0.28102 0.28712 0.23642 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4423 465196 5 149677818 G A 454819 Benign Spastic_paraplegia 0.03683 0.03411 0.02436 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4424 352189 5 149737221 T G 296414 Benign Treacher_Collins_Syndrome,_Dominant . . 0.9994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4425 130570 5 149759201 C T 136016 Benign/Likely_benign not_specified|Treacher_Collins_Syndrome,_Domin... 0.02245 0.00875 0.02276 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4426 130571 5 149772280 C G 136017 Benign/Likely_benign not_specified|Treacher_Collins_Syndrome,_Dominant 0.17061 . 0.08147 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4427 130574 5 149776232 C T 136020 Benign not_specified|Treacher_Collins_Syndrome,_Dominant 0.21029 0.29218 0.22404 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4428 130575 5 149776355 G C 136021 Benign/Likely_benign Treacher_Collins_syndrome_1|not_specified|Trea... 0.01531 0.02308 0.01078 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4429 30716 5 150227998 C T 39673 Pathogenic Inflammatory_bowel_disease_19 0.19492 0.1913 0.30371 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4430 167150 5 150639409 A G 176964 Benign Tay-Sachs_disease,_variant_AB|not_specified|no... 0.60864 0.6645 0.66394 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4431 167151 5 150639439 A G 177227 Benign Tay-Sachs_disease,_variant_AB|not_specified|no... 0.7229 0.76227 0.86022 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4432 352259 5 150647239 A G 302730 Benign Tay-Sachs_disease,_variant_AB 0.3986 0.44437 0.44349 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4433 352277 5 150647956 T C 296480 Benign Tay-Sachs_disease,_variant_AB . . 0.71066 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4434 352278 5 150648242 C CA 302473 Benign Tay-Sachs_disease,_variant_AB . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4435 352281 5 150648284 T TC 296485 Benign Tay-Sachs_disease,_variant_AB . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4436 352284 5 150648457 G A 302476 Benign Tay-Sachs_disease,_variant_AB . . 0.28894 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4437 352291 5 150649153 C T 298381 Benign Tay-Sachs_disease,_variant_AB . . 0.46406 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4438 352300 5 150649725 TAATA T 298400 Benign Tay-Sachs_disease,_variant_AB . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4439 352328 5 151304306 G A 296512 Benign Hyperekplexia . . 0.41613 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4440 48114 5 155754192 C G 57278 Benign Delta-sarcoglycanopathy|not_specified|Dilated_... . . 0.46046 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4441 670058 5 155756299 A G 661163 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4442 672529 5 155756414 G A 660756 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4443 672039 5 155771356 A G 660763 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4444 48125 5 155771579 T C 57289 Benign Limb-girdle_muscular_dystrophy,_type_2F|Delta-... 0.37766 0.46605 0.48542 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4445 672040 5 155771773 A G 661076 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4446 672041 5 155771879 G A 661077 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4447 672042 5 156074713 A C 661000 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4448 352353 5 156187928 C T 302542 Benign Delta-sarcoglycanopathy|Dilated_Cardiomyopathy... . . 0.20727 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4449 352430 5 156193118 G A 302910 Benign Delta-sarcoglycanopathy|Dilated_Cardiomyopathy... . . 0.92712 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4450 352488 5 156680685 A G 296664 Benign Lymphoproliferative_syndrome . . 0.83347 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4451 257433 5 156887133 A G 251833 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.31729 0.5 0.44249 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4452 257436 5 156898690 A G 251834 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.44935 0.53466 0.50459 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4453 257434 5 156899869 T C 251835 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.97228 0.97671 0.98682 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4454 352526 5 156900047 C T 303000 Likely_benign Congenital_ichthyosiform_erythroderma . . 0.03874 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4455 352532 5 156900534 C A 303001 Likely_benign Congenital_ichthyosiform_erythroderma . . 0.03874 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4456 352538 5 156900878 A T 302695 Benign Congenital_ichthyosiform_erythroderma . . 0.50539 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4457 352543 5 156901324 T C 298563 Benign Congenital_ichthyosiform_erythroderma . . 0.90695 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4458 352548 5 156901615 T C 303014 Likely_benign Congenital_ichthyosiform_erythroderma . . 0.04932 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4459 352551 5 156901701 G T 302697 Likely_benign Congenital_ichthyosiform_erythroderma . . 0.02476 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4460 352554 5 158742014 G T 303018 Benign Familial_Atypical_Mycobacteriosis,_Autosomal_R... . . 0.92033 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4461 352569 5 158742950 T G 298595 Benign Familial_Atypical_Mycobacteriosis,_Autosomal_R... . . 0.35903 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4462 668791 5 160762174 C T 661194 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4463 352592 5 161275302 A G 296742 Likely_benign Juvenile_myoclonic_epilepsy . . 0.17951 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4464 670653 5 161302728 G A 661208 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4465 668790 5 161309303 A G 661040 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4466 668949 5 161310002 A G 661209 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4467 256816 5 161322654 T C 251837 Benign not_specified 0.05244 0.10762 0.07688 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4468 93431 5 161322889 G A 99338 Benign/Likely_benign Juvenile_myoclonic_epilepsy|not_specified 0.63786 0.61914 0.59605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4469 681725 5 161323872 C T 661046 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4470 352608 5 161324898 A G 302875 Likely_benign Juvenile_myoclonic_epilepsy . . 0.58107 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4471 352614 5 161325934 A C 302888 Likely_benign Juvenile_myoclonic_epilepsy . . 0.58047 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4472 352637 5 161494990 GA G 298652 Conflicting_interpretations_of_pathogenicity Seizures|Generalized_epilepsy_with_febrile_sei... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4473 93434 5 161528280 C T 99341 Benign Seizures|Familial_febrile_seizures_8|Generaliz... 0.30709 0.28541 0.37161 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4474 681742 5 161529369 C T 661109 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4475 585903 5 161529571 A G 576800 Benign not_provided . 0.82058 0.82129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4476 675185 5 161529731 G A 661217 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4477 680292 5 161529808 C T 661221 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4478 674989 5 161576418 C A 661056 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4479 352655 5 161580983 C T 298702 Benign Generalized_epilepsy_with_febrile_seizures_plu... . . 0.37939 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4480 352656 5 161581035 T A 302924 Benign Generalized_epilepsy_with_febrile_seizures_plu... . . 0.51458 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4481 352671 5 161582493 CAT C 296799 Benign Generalized_epilepsy_with_febrile_seizures_plu... . . 0.30232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4482 1213 5 167845791 C T 16252 association Memory_quantitative_trait_locus . . 0.52057 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4483 380030 5 167913510 G A 368366 Benign Leukodystrophy,_hypomyelinating,_9|not_specified 0.62039 . 0.68031 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4484 683648 5 167921389 A G 661245 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4485 673398 5 167928732 A AATT 661136 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4486 380005 5 167943827 G A 368381 Benign not_specified 0.72766 0.67711 0.78415 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4487 802175 5 169097474 G C 790535 Benign Immunodeficiency_40 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4488 260212 5 169535522 T C 251840 Benign Pendred_syndrome|not_specified|Nonsyndromic_He... 0.90758 0.9089 0.92951 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4489 352717 5 169536055 G A 298785 Benign Pendred_syndrome|Nonsyndromic_Hearing_Loss,_Mixed . . 0.91673 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4490 352719 5 169536150 A G 303136 Likely_benign Pendred_syndrome|Nonsyndromic_Hearing_Loss,_Mixed . . 0.86861 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4491 352729 5 171760569 A G 303002 Benign Frank_Ter_Haar_syndrome . . 0.6855 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4492 352738 5 171761338 C T 303009 Likely_benign Frank_Ter_Haar_syndrome . . 0.11122 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4493 352747 5 171762100 C A 298798 Benign Frank_Ter_Haar_syndrome . . 0.71586 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4494 352753 5 171762442 A AC 296845 Benign Frank_Ter_Haar_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4495 352755 5 171762575 A G 298803 Benign Frank_Ter_Haar_syndrome . . 0.5647 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4496 352758 5 171762777 T C 296848 Benign Frank_Ter_Haar_syndrome . . 0.58946 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4497 352766 5 171763533 G GT 298810 Benign Frank_Ter_Haar_syndrome . . 0.5611 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4498 352770 5 171763862 T C 303251 Benign Frank_Ter_Haar_syndrome . . 0.55272 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4499 352774 5 171764101 G GC 296852 Benign Frank_Ter_Haar_syndrome . . 0.61342 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4500 352775 5 171764120 T C 296861 Benign Frank_Ter_Haar_syndrome . . 0.68331 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4501 352777 5 171764158 T C 303090 Benign Frank_Ter_Haar_syndrome . . 0.70308 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4502 352786 5 171764665 C T 298829 Benign Frank_Ter_Haar_syndrome . . 0.54932 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4503 593782 5 171765540 C A 584845 Uncertain_significance not_provided 0.00046 0.00016 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4504 257058 5 171785892 A G 251843 Benign Frank_Ter_Haar_syndrome|not_specified|not_prov... 0.72351 0.74129 0.78275 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4505 257056 5 171849471 G A 251844 Benign Frank_Ter_Haar_syndrome|not_specified 0.26111 0.36127 0.3746 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4506 352831 5 171881412 G C 303303 Likely_benign Frank_Ter_Haar_syndrome . . 0.04253 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4507 352832 5 171881423 G A 303304 Benign Frank_Ter_Haar_syndrome . . 0.21665 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4508 44837 5 172662024 T C 54004 Benign not_specified|Cardiovascular_phenotype 0.40419 0.40522 0.53574 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4509 258657 5 174156168 T C 251846 Benign Craniosynostosis|Enlarged_parietal_foramina|Pa... 0.75527 . 0.76578 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4510 352849 5 174157096 A G 303322 Benign Craniosynostosis|Enlarged_parietal_foramina . . 0.78095 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4511 352858 5 174157583 G GA 298886 Benign Craniosynostosis|Enlarged_parietal_foramina . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4512 352862 5 174157711 A G 303333 Benign Craniosynostosis|Enlarged_parietal_foramina . . 0.77596 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4513 352863 5 174157732 T C 298892 Benign Craniosynostosis|Enlarged_parietal_foramina . . 0.77576 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4514 352864 5 174157762 G C 298907 Benign Craniosynostosis|Enlarged_parietal_foramina . . 0.82987 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4515 511081 5 174870150 C T 501106 Likely_benign not_specified 0.71199 0.68007 0.75539 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4516 16326 5 176520243 G A 31365 Pathogenic Cancer_progression_and_tumor_cell_motility . 0.32098 0.29952 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4517 667729 5 176630984 T C 661172 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4518 802180 5 176636545 AG A 790540 Benign Sotos_syndrome_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4519 96035 5 176636882 C T 101929 Benign Sotos_syndrome|Weaver_syndrome|History_of_neur... 0.35414 0.29991 0.46805 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4520 96038 5 176637149 G A 101932 Benign Sotos_syndrome|Weaver_syndrome|History_of_neur... 0.10043 0.17646 . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4521 96042 5 176637240 G T 101936 Benign Sotos_syndrome|Weaver_syndrome|History_of_neur... 0.09934 . 0.22863 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4522 96043 5 176637576 T C 101937 Benign Sotos_syndrome|Weaver_syndrome|History_of_neur... 0.12633 0.19869 0.2496 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4523 670474 5 176639304 C G 661112 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4524 667732 5 176710547 C G 660844 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4525 673609 5 176719409 C A 661176 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4526 96073 5 176721198 T C 101967 Benign Sotos_syndrome|Weaver_syndrome|History_of_neur... 0.89897 . 0.77137 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4527 352925 5 176726002 T C 297072 Benign Sotos_syndrome|Weaver_syndrome . . 0.76398 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4528 352932 5 176726635 G A 298992 Benign Sotos_syndrome|Weaver_syndrome . . 0.22923 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4529 352946 5 176727058 GCCC GCC,G 303412 Uncertain_significance Sotos_syndrome|Weaver_syndrome . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
4530 352994 5 176831184 C G 299067 Likely_benign Factor_XII_deficiency_disease|Hereditary_Angio... . 0.00073 0.0004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4531 256310 5 176831826 C G 251869 Benign Factor_XII_deficiency_disease|not_specified|He... 0.9769 . 0.9395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4532 383778 5 177031348 T C 368113 Benign Ehlers-Danlos_syndrome_progeroid_type|not_spec... 0.63265 0.66084 0.66134 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4533 678008 5 177031602 C G 661121 Benign Ehlers-Danlos_syndrome_progeroid_type|not_prov... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4534 683273 5 177034786 T C 661124 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4535 377547 5 177035964 T C 369819 Benign Ehlers-Danlos_syndrome_progeroid_type|not_spec... 0.57481 0.59031 0.60503 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4536 678450 5 177036043 A G 661130 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4537 353009 5 177419356 C T 299071 Likely_benign Combined_Pituitary_Hormone_Deficiency,_Recessive . . 0.22664 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4538 196434 5 177419967 C T 193595 Benign/Likely_benign not_specified|Combined_Pituitary_Hormone_Defic... 0.23812 0.24498 0.20467 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4539 353016 5 177422823 C T 303460 Benign not_specified|Combined_Pituitary_Hormone_Defic... 0.5582 0.51135 0.50659 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4540 99647 5 178409856 C T 105536 not_provided not_provided . . 0.45587 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4541 99629 5 178413816 T C 105518 not_provided not_provided 0.5769 0.6064 0.54453 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4542 99628 5 178413947 T C 105517 Benign not_specified|not_provided 0.56843 0.5997 0.53554 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4543 99627 5 178415937 A G 105516 Benign not_specified|not_provided 0.49446 0.53283 0.50699 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4544 198105 5 178415982 A G 195266 Benign not_specified 0.98216 0.99519 0.98602 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4545 99626 5 178416063 G A 105515 Benign not_specified|not_provided 0.48824 0.52564 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4546 99625 5 178416288 G A 105514 Benign not_specified|not_provided 0.73766 0.72414 0.72165 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4547 93438 5 178421770 T G 99345 Benign not_specified|not_provided 0.63589 0.48906 0.55192 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4548 353048 5 178538472 G A 299123 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type . . 0.34625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4549 353064 5 178539400 T C 303530 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type . . 0.80451 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4550 353073 5 178540026 A G 299155 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type . . 0.52456 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4551 353080 5 178540656 T G 303573 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type . . 0.52336 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4552 682706 5 178552715 G A 660846 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4553 683136 5 178564499 C T 661277 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4554 288085 5 178581797 C T 272322 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type|no... 0.18067 0.31131 0.23123 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4555 288084 5 178581859 G A 272321 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type|no... 0.18691 0.26705 0.22844 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4556 353129 5 178634547 G A 297224 Benign/Likely_benign Ehlers-Danlos_syndrome_dermatosparaxis_type|no... 0.17361 0.17224 0.13578 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4557 353130 5 178634619 C T 303644 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type|no... 0.91527 0.92962 0.92452 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4558 353134 5 178634672 C T 299197 Benign Ehlers-Danlos_syndrome_dermatosparaxis_type|no... 0.32516 0.35542 0.43191 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4559 682686 5 178635005 C T 661310 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4560 226018 5 179220638 A C 227754 drug_response aspirin_response_-_Toxicity/ADR . . 0.17013 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4561 259189 5 179260153 C T 251873 Benign/Likely_benign Paget_disease_of_bone|Paget_disease_of_bone_2,... 0.59719 0.62479 0.69369 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4562 259191 5 179260213 G A 251875 Benign/Likely_benign Paget_disease_of_bone|Paget_disease_of_bone_2,... 0.49846 0.61145 0.58726 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4563 353182 5 179264731 T C 297272 Likely_benign Paget_disease_of_bone 0.61979 0.62624 0.6879 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4564 353186 5 179264915 G T 297284 Likely_benign Paget_disease_of_bone 0.65017 0.63291 0.72284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4565 263052 5 180036871 C G 251885 Benign not_specified 0.05567 . 0.08686 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4566 263044 5 180043388 G A 251893 Benign not_specified 0.25258 0.26997 0.24042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4567 263036 5 180047863 C G 251900 Benign not_specified 0.95314 0.98759 0.96006 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4568 263033 5 180048035 T C 251902 Benign not_specified 0.05456 0.07643 0.09625 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4569 263034 5 180048056 C T 251903 Benign not_specified 0.24854 0.24225 0.24321 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4570 263022 5 180053090 G A 251914 Benign not_specified 0.03723 0.05222 0.08327 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4571 263021 5 180053097 C T 251915 Benign not_specified 0.04123 0.05322 0.08606 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4572 263020 5 180053307 A G 251916 Benign not_specified 0.93039 0.98111 0.94149 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4573 263072 5 180056044 G A 251922 Benign not_specified 0.2754 0.29964 0.21246 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4574 263070 5 180056863 C T 251925 Benign not_specified 0.04662 0.03371 0.03235 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4575 160346 6 396321 C T 170189 Affects Skin/hair/eye_pigmentation,_variation_in,_8 . . 0.03674 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4576 769313 6 1313980 C G 699313 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4577 193213 6 1611802 G GGGC 190378 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4578 44132 6 2955802 T C 53300 Benign not_specified 0.22028 0.26445 0.21286 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4579 378835 6 3154871 A C 368891 Benign/Likely_benign not_specified|not_provided 0.4877 0.54875 0.40056 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4580 680824 6 3157354 C G 661694 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4581 680632 6 5109945 C T 662253 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4582 680628 6 5144189 T C 661802 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4583 680627 6 5144192 C T 662244 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4584 680630 6 5144667 C T 662246 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4585 380035 6 5260936 A C 370498 Benign not_specified|not_provided 0.41426 0.35772 0.40296 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4586 676278 6 5261136 G A 655746 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4587 676277 6 5261263 C T 661805 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4588 676237 6 5261292 G A 662250 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4589 680626 6 5261359 A G 662252 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4590 680634 6 5261460 A C 662254 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4591 137292 6 5431340 A G 140995 Benign Combined_oxidative_phosphorylation_deficiency_... 0.15216 . 0.23522 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4592 680564 6 5431571 G A 661812 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4593 680572 6 5545816 A G 662256 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4594 357650 6 6144857 C A 300849 Likely_benign Factor_XIII_subunit_A_deficiency . . 0.09345 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4595 357662 6 6145692 C T 308466 Likely_benign Factor_XIII_subunit_A_deficiency . . 0.14217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4596 357663 6 6145726 A G 308467 Likely_benign Factor_XIII_subunit_A_deficiency . . 0.52336 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4597 255186 6 6152137 C G 252445 Benign/Likely_benign Factor_XIII_subunit_A_deficiency|not_specified 0.22174 0.2087 0.19389 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4598 255185 6 6152140 C T 252446 Benign/Likely_benign Factor_XIII_subunit_A_deficiency|not_specified 0.04952 0.06759 0.07228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4599 255183 6 6174866 G A 252448 Conflicting_interpretations_of_pathogenicity Factor_XIII_subunit_A_deficiency|not_specified... 0.19253 0.21596 0.24042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4600 255182 6 6222249 T C 252449 Benign not_specified 0.01522 0.00916 0.00978 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4601 16532 6 6318795 C A 31571 Conflicting_interpretations_of_pathogenicity Factor_XIII_subunit_A_deficiency|Venous_thromb... . . 0.14776 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4602 357680 6 6320808 T G 300863 Benign Factor_XIII_subunit_A_deficiency . . 0.88199 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4603 683473 6 7541611 G C 661960 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4604 668834 6 7555634 G GTTTA 661964 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4605 683487 6 7555666 A G 662338 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4606 137167 6 7558318 T C 140870 Benign not_specified 0.21598 0.19526 0.15615 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4607 672203 6 7563756 G A 662354 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4608 44952 6 7563983 T G 54119 Likely_benign not_specified . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4609 678481 6 7566386 T C 662389 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4610 672130 6 7566415 T C 662321 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4611 259381 6 7567970 C T 252531 Benign not_specified|not_provided 0.78218 0.75864 0.77276 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4612 672132 6 7568354 G T 662362 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4613 672133 6 7570963 A G 662330 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4614 683475 6 7571327 G T 662334 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4615 671015 6 7571874 G A 662336 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4616 44870 6 7572262 A G 54037 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.78587 0.76144 0.77436 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4617 672134 6 7574805 C T 662341 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4618 672204 6 7576368 G A 662393 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4619 44877 6 7576527 G A 54044 Benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.74812 0.77179 0.73542 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4620 672205 6 7577079 G A 662370 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4621 44886 6 7577260 C T 54053 Benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.26884 0.24383 0.27516 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4622 672135 6 7577354 C A 662345 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4623 683476 6 7577744 A G 662347 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4624 678482 6 7578343 G C 661994 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4625 259383 6 7578819 T G 252533 Benign not_specified|not_provided 0.75342 0.77316 0.74002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4626 259384 6 7578823 G A 252534 Benign not_specified|not_provided 0.77833 0.77988 0.76438 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4627 672137 6 7578970 C T 662353 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4628 672138 6 7579311 G T 662000 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4629 672149 6 7579363 A T 662355 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4630 44925 6 7581636 G A 54092 Benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.19414 0.17241 0.24042 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4631 44947 6 7584617 C T 54114 Benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.30225 0.28806 0.21166 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4632 44967 6 7585967 G C 54134 Benign Cardiomyopathy|Arrhythmogenic_right_ventricula... 0.68807 0.71167 0.70947 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4633 357973 6 7586308 C T 304041 Benign Arrhythmogenic_right_ventricular_cardiomyopath... . . 0.27356 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4634 357974 6 7586386 TCTC T 308774 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... . . 0.00919 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4635 369512 6 10882100 G A 353741 Benign Hypoparathyroidism_familial_isolated . . 0.98562 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4636 402937 6 12124587 C G 389713 Benign not_specified 0.30836 0.31989 0.248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4637 16652 6 12296255 G T 31691 Benign High_density_lipoprotein_cholesterol_level_qua... . 0.23446 0.2474 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4638 262012 6 15593240 T C 252214 Benign not_specified 0.79223 . 0.88838 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4639 262009 6 15663118 T C 252217 Benign Hermansky-Pudlak_syndrome|not_specified 0.18294 0.17743 0.11382 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4640 15961 6 16290761 T A 31000 Benign GMP_REDUCTASE_POLYMORPHISM . 0.5444 0.70627 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4641 128505 6 16327615 A G 133954 Likely_benign not_specified 0.70729 . 0.78015 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4642 682615 6 24175124 T C 662024 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4643 516888 6 24291203 T C 501923 Benign not_specified 0.48247 0.63927 0.51697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4644 128343 6 24503590 C T 133792 Benign Succinate-semialdehyde_dehydrogenase_deficienc... 0.37121 0.3195 0.3147 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4645 356135 6 24505221 G A 302268 Benign Succinate-semialdehyde_dehydrogenase_deficiency 0.2608 0.22413 0.19269 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4646 356145 6 24534193 C A 299675 Benign Succinate-semialdehyde_dehydrogenase_deficiency . . 0.38059 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4647 356175 6 24535780 G A 306974 Benign Succinate-semialdehyde_dehydrogenase_deficiency . . 0.26797 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4648 517548 6 24806594 C T 496515 Benign not_specified 0.46277 0.46084 0.35783 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4649 517553 6 24809936 A T 496900 Benign not_specified 0.12133 0.13135 0.09904 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4650 499652 6 24825511 A G 491076 Benign not_specified 0.73785 0.80783 0.75399 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4651 508154 6 24828490 C T 496434 Benign not_specified 0.24091 0.19846 0.22684 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4652 129225 6 26091336 T C 134671 Benign/Likely_benign Hereditary_hemochromatosis|not_specified|not_p... 0.34584 0.3686 0.42672 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4653 162166 6 30774357 G A 171879 not_provided not_provided . . 0.76578 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4654 380148 6 30882203 T C 369052 Benign not_specified|not_provided . 0.6417 0.62979 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4655 380149 6 30882634 C T 369054 Benign not_specified|not_provided 0.29346 0.3215 0.22205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4656 380150 6 30882781 G T 368843 Benign not_specified|not_provided 0.29438 . 0.22205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4657 380151 6 30883920 C T 368851 Benign not_specified|not_provided 0.29302 0.32031 0.22205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4658 669590 6 30884436 A G 662185 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4659 669591 6 30885821 G A 662048 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4660 669592 6 30886350 C G 662187 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4661 669593 6 30887311 C T 661678 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4662 669594 6 30887344 T C 662051 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4663 676450 6 30887780 C CTGGGGCGGTGCAGGTGA 661680 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4664 380153 6 30887988 C T 369066 Benign not_specified|not_provided 0.29443 0.32468 0.22205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4665 380154 6 30888161 T C 370328 Benign Combined_oxidative_phosphorylation_deficiency_... 0.48316 0.60105 0.61621 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4666 380155 6 30888169 G A 370350 Benign not_specified|not_provided 0.29302 0.31965 0.22224 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4667 380157 6 30890483 G T 369077 Benign Combined_oxidative_phosphorylation_deficiency_... 0.294 0.32402 0.22205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4668 380158 6 30890569 G T 368868 Benign not_specified 0.29424 . 0.22205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4669 380159 6 30890871 T C 368876 Benign not_specified|not_provided 0.48068 0.60564 0.61582 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4670 380160 6 30892322 C T 368601 Benign not_specified|not_provided 0.29551 0.34455 0.22205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4671 684325 6 30892521 G A 662148 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4672 669595 6 30892592 G C 662056 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4673 380162 6 30893428 G A 368602 Benign not_specified|not_provided 0.28935 0.32948 0.22304 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4674 380163 6 30893728 C T 369083 Benign not_specified|not_provided 0.65304 0.75301 0.70787 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4675 14907 6 31274380 T C 29946 risk_factor HIV-1_viremia,_susceptibility_to . . 0.36761 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4676 403084 6 31379817 T C 389723 Benign not_specified . 0.48356 0.58247 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4677 403085 6 31379931 G A 389660 Benign not_specified . 0.49998 0.58327 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4678 12389 6 31542482 C T 27428 risk_factor Alzheimer_disease,_susceptibility_to|Vascular_... . . 0.09904 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4679 356272 6 31914935 A G 302401 Benign Macular_degeneration|Atypical_hemolytic_uremic... 0.86363 0.83055 0.85543 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4680 356318 6 31929014 A C 307147 Benign Trichohepatoenteric_syndrome|not_specified 0.77395 0.76995 0.81669 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4681 356345 6 31936668 T C 302482 Benign Trichohepatoenteric_syndrome|not_specified 0.78278 0.78261 0.83966 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4682 256286 6 32006317 C T 252221 Benign not_specified . 0.78912 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4683 65608 6 32006886 G A 76516 Benign Classic_congenital_adrenal_hyperplasia_due_to_... 0.2315 0.33408 0.21486 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4684 261115 6 32011204 G C 252249 Benign not_specified . 0.47783 0.46186 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4685 261173 6 32020512 T C 252278 Benign not_specified 0.01732 0.0228 0.00659 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4686 261162 6 32026107 C T 252289 Benign Ehlers-Danlos-like_syndrome_due_to_tenascin-X_... 0.68561 0.71922 0.69609 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4687 261159 6 32029226 A G 252292 Benign not_specified 0.63497 0.69068 0.63998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4688 261156 6 32029415 T C 252295 Benign not_specified . 0.60082 0.59864 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4689 261152 6 32030284 G A 252299 Benign not_specified . 0.37912 0.21845 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4690 261150 6 32032743 G A 252301 Benign not_specified 0.35846 0.4401 0.39876 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4691 261136 6 32050067 T C 252312 Benign not_specified 0.47712 . 0.58626 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4692 95242 6 32945530 G C 101141 Benign not_specified 0.94048 . 0.97983 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4693 46568 6 33131501 G A 55733 Benign/Likely_benign Otospondylomegaepiphyseal_dysplasia,_autosomal... 0.01743 0.01934 0.00679 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4694 674800 6 33132338 G A 661705 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4695 674799 6 33134392 C A 661712 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4696 674781 6 33136575 C T 662156 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4697 674780 6 33136638 G A 661724 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4698 674779 6 33137727 C T 662194 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4699 674777 6 33138746 CA C 662075 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4700 46566 6 33138955 G A 55731 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal... 0.72193 0.75628 0.80531 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4701 46564 6 33139475 T G 55729 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal... 0.77331 0.78675 0.86941 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4702 674776 6 33139662 A G 662077 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4703 674775 6 33140009 T G 662079 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4704 674774 6 33140983 A G 661743 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4705 46562 6 33141161 A G 55727 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal... 0.77844 0.78709 0.8782 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4706 262310 6 33141253 T G 252332 Benign not_specified|not_provided 0.53499 . 0.64517 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4707 674772 6 33141389 C T 662088 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4708 46560 6 33141475 C T 55725 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal... 0.56883 0.60065 0.64317 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4709 262309 6 33141920 G C 252333 Benign not_specified|not_provided 0.7679 0.78233 0.86921 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4710 674770 6 33142253 C G 662162 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4711 674768 6 33143948 C G 662101 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4712 46558 6 33144243 T A 55723 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal... 0.43837 0.47882 0.54713 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4713 46555 6 33147589 T G 55720 Benign Otospondylomegaepiphyseal_dysplasia,_autosomal... . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4714 675092 6 33152865 G A 661751 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4715 403518 6 33272855 G C 389769 Benign Bare_lymphocyte_syndrome_type_1|not_specified 0.60764 0.56815 0.59125 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4716 403519 6 33283766 T C 389749 Benign not_specified 0.54675 0.54652 0.53434 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4717 130526 6 33408680 G A 135972 Benign History_of_neurodevelopmental_disorder|not_spe... 0.10088 0.10467 0.05012 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4718 669588 6 33667965 G T 662170 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4719 669587 6 33679061 A G 662117 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4720 671160 6 33679807 A G 661775 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4721 356425 6 34393591 T G 306941 Benign Diamond-Blackfan_anemia . . 0.9976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4722 356434 6 34393866 G A 302561 Benign Diamond-Blackfan_anemia . . 0.07009 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4723 708924 6 35201057 A G 722010 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4724 261434 6 35423489 A G 252336 Benign not_specified 0.73412 0.72009 0.77656 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4725 261435 6 35423662 A C 252337 Benign Fanconi_anemia|not_specified|not_provided 0.73566 . 0.77796 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4726 261436 6 35425416 A G 252338 Benign not_specified 0.41204 0.49656 0.35963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4727 94127 6 35477025 C G 100027 Benign Leber_congenital_amaurosis|Leber_congenital_am... 0.84223 0.82147 0.83846 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4728 286865 6 35479574 G C 271102 Benign Leber_congenital_amaurosis|not_specified|Retin... 0.89984 . 0.8744 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4729 226001 6 35669983 A G 227758 drug_response antidepressants_response_-_Efficacy|citalopram... . . 0.77796 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4730 402546 6 35764570 G A 389770 Benign not_specified . 0.17045 . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4731 356545 6 35791302 G C 302686 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.29373 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4732 356546 6 35791408 A AG 307044 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4733 356552 6 35791635 AT A 300016 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4734 257572 6 36260858 C T 252342 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.43242 0.37537 0.41833 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4735 257570 6 36274153 C T 252345 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.29717 0.26315 0.24042 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4736 257571 6 36275458 T C 252346 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.66085 0.64017 0.64836 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4737 789885 6 37186693 C T 710492 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4738 414389 6 38757615 G A 395757 Benign Primary_ciliary_dyskinesia 0.02837 0.02501 0.02097 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4739 257631 6 38771096 T C 252347 Benign not_specified 0.14432 0.15025 0.08147 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4740 257626 6 38885010 TA T 252348 Benign not_specified 0.51821 0.43897 0.49321 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4741 402771 6 38905957 C T 389763 Benign/Likely_benign not_specified|not_provided 0.00823 0.00511 0.00419 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4742 257628 6 38957771 T C 252350 Benign not_specified 0.40827 0.40029 0.32847 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4743 257629 6 38957853 A G 252351 Benign not_specified 0.40835 0.39428 0.32867 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4744 356672 6 39895410 T C 302841 Benign Combined_molybdoflavoprotein_enzyme_deficiency . . 0.6234 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4745 356684 6 42123317 A C 307228 Likely_benign Cone/cone-rod_dystrophy . 0.69096 0.66773 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4746 356736 6 42162388 A G 307298 Likely_benign Retinitis_Pigmentosa,_Dominant 0.51384 0.63747 0.58486 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4747 501953 6 42162575 A G 493377 Benign not_specified 0.86053 0.85038 0.87899 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4748 356749 6 42664658 G A 302880 Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... . . 0.7514 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4749 356750 6 42664676 G A 307353 Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... . . 0.75439 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4750 356756 6 42665032 G T 307355 Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... . . 0.21446 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4751 356759 6 42665135 G T 302916 Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... . . 0.21446 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4752 356762 6 42665271 G A 300161 Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... . . 0.75439 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4753 356764 6 42665490 C T 302934 Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... . . 0.75459 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4754 356765 6 42665548 T TAA 307361 Uncertain_significance Pigmentary_retinal_dystrophy|Choroidal_Dystrop... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4755 138906 6 42666061 T C 142609 Benign/Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... 0.7768 0.77898 0.75739 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4756 138905 6 42666145 C T 142608 Benign/Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... 0.93072 0.91168 0.94129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4757 138904 6 42666164 G C 142607 Benign/Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... 0.7768 0.7774 0.75659 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4758 255827 6 42666293 G A 252355 Benign not_specified 0.23282 0.21914 0.21206 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4759 92846 6 42689755 A G 98753 Benign/Likely_benign Pigmentary_retinal_dystrophy|Choroidal_Dystrop... 0.6068 0.57747 0.58447 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4760 356786 6 42931627 GTTTA G 300174 Benign PEX6_POLYMORPHISM|Peroxisome_biogenesis_disord... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4761 92781 6 42934500 C T 98688 Benign not_specified|not_provided 0.5978 0.49102 0.49381 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4762 559074 6 42934620 C T 549606 Benign not_provided 0.5978 0.49104 0.49401 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4763 559075 6 42935998 G A 549607 Benign not_provided 0.59912 0.49045 0.4976 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4764 92791 6 42942779 A G 98698 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.37667 0.37763 0.28974 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4765 92789 6 42946490 C A 98696 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.37541 0.44935 0.33187 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4766 356808 6 42946943 G A 300204 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... . . 0.33387 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4767 260435 6 43014298 TT CC 252368 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4768 12223 6 43738350 C G 27262 risk_factor Microvascular_complications_of_diabetes_1 . . 0.67392 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4769 162168 6 43826627 C T 171881 not_provided not_provided . . 0.67392 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4770 357026 6 44266648 C CTT 307681 Benign Combined_oxidative_phosphorylation_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4771 357032 6 44266925 T C 307832 Benign Combined_oxidative_phosphorylation_deficiency . . 0.86941 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4772 357033 6 44266984 G A 300337 Benign Combined_oxidative_phosphorylation_deficiency . . 0.20647 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4773 357035 6 44266999 CT C 300339 Benign Combined_oxidative_phosphorylation_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4774 357043 6 44267650 T TAGGGCACCCATACC 307865 Benign Combined_oxidative_phosphorylation_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4775 357044 6 44267728 A ATTTAT 307869 Benign Combined_oxidative_phosphorylation_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4776 357045 6 44267861 C T 307686 Benign Combined_oxidative_phosphorylation_deficiency . . 0.86761 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4777 357048 6 44267918 A G 303155 Benign Combined_oxidative_phosphorylation_deficiency . . 0.86941 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4778 357050 6 44267943 C T 307870 Benign Combined_oxidative_phosphorylation_deficiency . . 0.86941 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4779 357055 6 44268371 T C 303162 Benign Combined_oxidative_phosphorylation_deficiency|... 0.87114 0.9426 0.86941 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4780 357059 6 44269193 C T 300361 Benign Combined_oxidative_phosphorylation_deficiency_... 0.67899 0.7015 0.58267 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4781 682696 6 44269640 G A 661779 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4782 682694 6 44271661 G A 662242 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4783 672773 6 44273702 C A 661782 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4784 682693 6 44274451 G A 662137 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4785 669454 6 44280281 T C 662150 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4786 506168 6 45870999 CAG C 496577 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4787 508561 6 46047458 C T 496472 Benign not_specified . 0.23455 0.19629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4788 508092 6 46047640 T C 496912 Benign not_specified|not_provided 0.04446 0.04663 0.03614 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4789 508560 6 46048000 T C 502010 Benign not_specified . 0.2498 0.22125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4790 7916 6 46672943 A G 22955 risk_factor Asthma_and_atopy,_susceptibility_to|not_provided . 0.80334 0.8103 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4791 56163 6 46684222 C T 70802 not_provided not_provided 0.26649 0.30326 0.31749 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4792 357156 6 47445784 C T 307805 Uncertain_significance Focal_segmental_glomerulosclerosis . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4793 357157 6 47445789 A C 300455 Benign Focal_segmental_glomerulosclerosis . . 0.60623 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4794 357162 6 47445927 T A 307991 Benign Focal_segmental_glomerulosclerosis 0.96713 . 0.95268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4795 260181 6 47563692 C T 252387 Benign Focal_segmental_glomerulosclerosis|Focal_segme... 0.9757 0.99415 0.98303 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4796 260183 6 47567017 G A 252388 Benign not_specified 0.03099 0.0116 0.04054 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4797 357183 6 47592328 GT G 300480 Benign Focal_segmental_glomerulosclerosis . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4798 357222 6 47594002 T C 308038 Benign Focal_segmental_glomerulosclerosis . . 0.53035 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4799 357225 6 47594183 A AT 307895 Benign Focal_segmental_glomerulosclerosis . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4800 357228 6 47594302 T C 300504 Benign Focal_segmental_glomerulosclerosis . . 0.94109 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4801 357235 6 49398115 C T 300512 Benign Methylmalonic_acidemia . . 0.32927 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4802 357290 6 50811241 T A 303422 Benign Char_syndrome . . 0.86322 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4803 357303 6 50812015 AAC A 308011 Conflicting_interpretations_of_pathogenicity Char_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4804 357319 6 50812906 G A 308018 Benign Char_syndrome . . 0.73602 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4805 357329 6 50813332 T C 308129 Benign Char_syndrome . . 0.9393 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4806 357358 6 51480486 G T 308144 Benign Autosomal_recessive_polycystic_kidney_disease . . 0.6867 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4807 357362 6 51480853 T C 308048 Benign Autosomal_recessive_polycystic_kidney_disease . . 0.75479 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4808 357368 6 51481315 T C 308051 Benign Autosomal_recessive_polycystic_kidney_disease . . 0.88339 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4809 357398 6 51483505 A G 308176 Benign Autosomal_recessive_polycystic_kidney_disease . . 0.99681 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4810 96376 6 51483961 T C 102270 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.52583 0.56297 0.56569 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4811 96372 6 51491884 T C 102266 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.52361 0.55504 0.55332 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4812 96441 6 51613177 C T 102335 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.27403 0.40414 0.38598 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4813 96438 6 51618170 T G 102332 Benign not_specified . 0.74163 0.85943 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4814 262421 6 51640751 C G 252407 Benign not_specified 0.30106 0.43375 0.40016 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4815 96429 6 51695647 A T 102323 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.49362 0.38611 0.36761 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4816 96423 6 51720838 T C 102317 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.35461 0.4339 0.53894 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4817 96422 6 51720872 A G 102316 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.34546 0.43417 0.53974 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4818 262412 6 51732628 G A 252416 Benign not_specified 0.35453 0.43452 0.53874 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4819 96421 6 51732807 C T 102315 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.53545 . 0.36761 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4820 262411 6 51735261 G T 252417 Benign not_specified 0.35338 . 0.53774 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4821 262406 6 51799166 T C 252422 Benign not_specified 0.67984 0.7015 0.77436 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4822 96410 6 51875250 A C 102304 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.95387 0.98719 0.95587 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4823 96399 6 51890823 G A 102293 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.39236 0.46976 0.35463 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4824 262399 6 51891011 T C 252426 Benign not_specified 0.45392 . 0.41194 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4825 262396 6 51913240 G A 252429 Benign not_specified 0.38874 0.46495 0.35563 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4826 96386 6 51914956 G A 102280 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.38867 0.46521 0.35583 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4827 96374 6 51924774 A G 102268 Benign Autosomal_recessive_polycystic_kidney_disease|... 0.95917 0.9883 0.95827 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4828 96407 6 51938242 A G 102301 Benign not_specified 0.27211 0.27663 0.32987 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4829 96388 6 51947237 G A 102282 Benign/Likely_benign Autosomal_recessive_polycystic_kidney_disease|... 0.29571 0.28441 0.35443 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4830 128968 6 52303291 C T 134415 Benign/Likely_benign Juvenile_myoclonic_epilepsy|not_specified 0.10034 . 0.06889 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4831 2063 6 52303361 G A 17102 Benign Myoclonic_epilepsy,_juvenile_1|Juvenile_myoclo... . 0.06051 0.04433 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4832 357489 6 52357260 C A 300714 Benign Juvenile_myoclonic_epilepsy . 0.89467 0.89996 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4833 357498 6 52358020 A T 308225 Likely_benign Juvenile_myoclonic_epilepsy . 0.90195 0.93311 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4834 357512 6 52358319 G A 300722 Benign Juvenile_myoclonic_epilepsy . 0.89449 0.89996 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4835 357517 6 52358887 T TCA 308241 Benign Juvenile_myoclonic_epilepsy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4836 357523 6 52359558 A G 303678 Likely_benign Juvenile_myoclonic_epilepsy . 0.18641 0.12999 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4837 357527 6 52360283 T A 308245 Likely_benign Juvenile_myoclonic_epilepsy . 0.65463 0.69908 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4838 357529 6 52360545 T C 300752 Likely_benign Juvenile_myoclonic_epilepsy . 0.44915 0.27935 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4839 218139 6 53134104 C CACAG 214787 not_provided not_provided 0.60233 0.50352 0.59804 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4840 439753 6 53410037 G A 433587 Benign not_specified . . 0.06909 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4841 768101 6 55142261 G A 699626 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4842 795681 6 56351973 G A 787557 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4843 518378 6 56426931 C T 508818 Benign Neuropathy,_hereditary_sensory_and_autonomic,_... 0.38594 0.40605 0.33526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4844 518379 6 56463410 T C 508819 Benign Neuropathy,_hereditary_sensory_and_autonomic,_... 0.38105 0.35621 0.32828 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4845 357539 6 56480052 T TAA 308257 Benign Neuropathy,_hereditary_sensory_and_autonomic,_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4846 357558 6 56482801 C G 303702 Benign Neuropathy,_hereditary_sensory_and_autonomic,_... 0.46925 0.38866 0.40176 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4847 357579 6 56484758 C T 300790 Benign Neuropathy,_hereditary_sensory_and_autonomic,_... 0.42304 0.36096 0.33646 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4848 357616 6 56505081 G C 308408 Conflicting_interpretations_of_pathogenicity Neuropathy,_hereditary_sensory_and_autonomic,_... 0.00177 0.0033 0.003 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4849 93620 6 64694354 C T 99524 Benign/Likely_benign Retinitis_pigmentosa_25|not_specified|Retiniti... 0.36115 0.36324 0.34964 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4850 196616 6 65016977 TGA T 193777 Benign Retinitis_pigmentosa_25|not_specified|Retiniti... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4851 137256 6 65149185 T A 140959 Benign/Likely_benign Retinitis_pigmentosa_25|not_specified|Retiniti... . 0.28638 0.29133 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4852 195937 6 65300250 C G 193098 Conflicting_interpretations_of_pathogenicity Retinitis_pigmentosa|Retinitis_pigmentosa_25|n... 0.00241 0.00486 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4853 93611 6 65301504 A G 99515 Benign Retinitis_pigmentosa_25|not_specified|Retiniti... 0.77442 0.74697 0.78155 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4854 137272 6 65612302 A G 140975 Conflicting_interpretations_of_pathogenicity Retinitis_pigmentosa_25|not_specified|Retiniti... 0.02146 0.03587 0.01617 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4855 93605 6 65622463 A G 99509 Benign Retinitis_pigmentosa_25|not_specified|Retiniti... 0.66711 0.61068 0.64637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4856 137268 6 66005857 T A 140971 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Recessive 0.17083 0.16152 0.10423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4857 137263 6 66063513 G A 140966 Benign/Likely_benign Retinitis_pigmentosa_25|not_specified|Retiniti... 0.68146 0.67463 0.65116 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4858 137262 6 66112409 A G 140965 Benign/Likely_benign Retinitis_pigmentosa_25|not_specified|Retiniti... 0.52821 0.51649 0.50599 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4859 137261 6 66204945 G A 140964 Benign/Likely_benign Retinitis_pigmentosa_25|not_specified|Retiniti... 0.16062 . 0.17033 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4860 137260 6 66204970 C T 140963 Benign/Likely_benign Retinitis_pigmentosa_25|not_specified|not_prov... 0.00408 . 0.00859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4861 357765 6 70385709 G A 303862 Benign Disorders_of_Intracellular_Cobalamin_Metabolism . . 0.64597 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4862 357791 6 70926334 A G 308545 Benign Multiple_Epiphyseal_Dysplasia,_Dominant|Stickl... . . 0.39577 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4863 258357 6 70944465 A G 252455 Benign not_specified 0.38482 0.38134 0.21865 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4864 677932 6 70961745 A G 662196 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4865 258353 6 70961833 T C 252459 Benign Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp... 0.39151 0.37526 0.32668 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4866 258351 6 70962039 C T 252460 Benign not_specified|not_provided 0.18868 . 0.17332 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4867 258352 6 70962044 A G 252461 Benign not_specified 0.50023 0.44845 0.40336 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4868 677930 6 70962219 G A 662260 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4869 258350 6 70963156 T G 252462 Benign not_specified 0.43688 . 0.36921 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4870 258344 6 70965125 A C 252467 Benign not_specified 0.83723 . 0.8752 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4871 683421 6 70966173 A G 661848 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4872 683417 6 70966794 G A 662291 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4873 677940 6 70970501 A G 661850 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4874 677939 6 70972708 T C 661854 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4875 678734 6 70973152 A C 662262 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4876 677938 6 70973200 A T 662200 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4877 677937 6 70976303 A T 662306 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4878 677936 6 70976661 T G 661862 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4879 677935 6 70978397 T C 661876 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4880 260500 6 72889472 A G 252483 Benign not_specified|Cone-Rod_Dystrophy,_Dominant|not... 0.69112 . 0.7518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4881 95655 6 72892257 A G 101552 Benign not_specified|Cone-Rod_Dystrophy,_Dominant|not... 0.97435 0.99227 0.97464 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4882 677182 6 72945492 C T 662301 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4883 677183 6 72968609 C T 662302 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4884 260498 6 73102442 C T 252489 Benign not_specified|Cone-Rod_Dystrophy,_Dominant|not... 0.21349 0.21242 0.15875 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4885 357862 6 73102522 AT A 308639 Benign Cone-Rod_Dystrophy,_Dominant . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4886 357878 6 73111454 A G 303974 Benign Cone-Rod_Dystrophy,_Dominant . . 0.44329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4887 357879 6 73111492 A G 303981 Likely_benign Cone-Rod_Dystrophy,_Dominant . . 0.11202 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4888 357882 6 73111857 T TA 303985 Benign Cone-Rod_Dystrophy,_Dominant . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4889 357890 6 73112380 C A 301012 Likely_benign Cone-Rod_Dystrophy,_Dominant . . 0.12001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4890 138273 6 74189574 G A 141976 Benign not_specified . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4891 138274 6 74190448 T C 141977 Benign not_specified|not_provided 0.20621 0.18713 0.20807 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4892 678137 6 74191545 G A 662304 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4893 671625 6 74192422 T G 662307 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4894 682640 6 74201676 A T 662350 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4895 671626 6 74202160 A C 662272 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4896 678514 6 74202273 T C 662356 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4897 357907 6 74303829 C T 308706 Benign Salla_disease . . 0.30092 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4898 357917 6 74304415 G C 308717 Benign Salla_disease . . 0.17252 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4899 357919 6 74304607 T C 301029 Likely_benign Salla_disease . . 0.06829 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4900 672112 6 74309812 C T 661914 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4901 672111 6 74320391 T A 662283 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4902 672110 6 74324806 G A 662325 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4903 672021 6 74324901 T C 661917 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4904 672109 6 74325257 T C 662327 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4905 672093 6 74325403 C T 662329 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4906 357925 6 74348142 T C 301037 Benign Salla_disease|not_provided 0.04513 0.07939 0.0655 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4907 558969 6 74351669 A G 549614 Benign not_provided 0.0449 0.07837 0.0655 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4908 259341 6 75841722 A T 252506 Benign not_specified 0.88226 0.88335 0.88618 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4909 259338 6 75844458 C T 252509 Benign not_specified|not_provided 0.00975 0.0073 0.00419 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4910 45147 6 76596728 C T 54314 Benign not_specified|not_provided 0.24127 0.25117 0.14776 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4911 45130 6 76624741 C T 54297 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.24097 0.28782 0.14697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4912 358027 6 76626756 T C 308845 Likely_benign Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom... . . 0.31889 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4913 358034 6 76627600 GT G 301090 Benign Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4914 358049 6 76628564 C T 304111 Benign Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom... . . 0.55052 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4915 358056 6 76628843 T A 301102 Benign Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom... . . 0.77716 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4916 358085 6 80196498 T C 308889 Likely_benign Leber_congenital_amaurosis . . 0.5647 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4917 167255 6 80196848 C T 177374 Benign/Likely_benign Leber_congenital_amaurosis|Leber_congenital_am... 0.37842 0.31671 0.35523 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4918 167258 6 80228541 A G 177112 Benign Leber_congenital_amaurosis|Leber_congenital_am... 0.837 0.83459 0.89058 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4919 358109 6 80228673 T C 308913 Benign Leber_congenital_amaurosis . . 0.89038 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4920 358150 6 80657086 C G 301166 Likely_benign Stargardt_Disease,_Dominant . . 0.08726 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4921 683382 6 80837058 A G 662388 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4922 96573 6 80837239 A G 102466 Benign not_specified 0.32301 0.44378 0.38778 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4923 96572 6 80837253 G T 102465 Benign Maple_syrup_urine_disease|not_specified . . 0.51837 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4924 683389 6 80881289 C G 662411 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4925 96613 6 80912746 C T 102506 Benign not_specified . . 0.69629 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4926 683390 6 80913216 A G 662414 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4927 683392 6 81053107 G A 662417 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4928 683394 6 81053217 G T 662386 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4929 358174 6 81053642 G A 304288 Benign Maple_syrup_urine_disease . . 0.71506 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4930 358176 6 81053814 T C 304289 Benign Maple_syrup_urine_disease . . 0.71546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4931 358177 6 81053825 G A 304303 Benign Maple_syrup_urine_disease . . 0.71586 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4932 358178 6 81053866 C T 301182 Benign Maple_syrup_urine_disease . . 0.58986 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4933 358179 6 81053916 G T 309048 Benign Maple_syrup_urine_disease . . 0.95847 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4934 358185 6 81054148 T C 309049 Benign Maple_syrup_urine_disease . . 0.71526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4935 358188 6 81054252 C T 301194 Benign Maple_syrup_urine_disease . . 0.39976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4936 358190 6 81054310 C T 309050 Benign Maple_syrup_urine_disease . . 0.71546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4937 358191 6 81054326 T C 309058 Benign Maple_syrup_urine_disease . . 0.71546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4938 358196 6 81054515 G A 304336 Benign Maple_syrup_urine_disease . . 0.71526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4939 358198 6 81054663 C G 301200 Benign Maple_syrup_urine_disease . . 0.6887 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4940 358202 6 81054762 A G 301205 Benign Maple_syrup_urine_disease . . 0.71526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4941 358204 6 81054965 T C 301207 Benign Maple_syrup_urine_disease . . 0.71526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4942 358206 6 81055299 A G 309086 Benign Maple_syrup_urine_disease . . 0.71486 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4943 358208 6 81055331 T C 309088 Benign Maple_syrup_urine_disease . . 0.71526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4944 358209 6 81055396 G A 309090 Benign Maple_syrup_urine_disease . . 0.71526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4945 358210 6 81055413 T C 304346 Benign Maple_syrup_urine_disease . . 0.71526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4946 358212 6 81055792 G A 304347 Benign Maple_syrup_urine_disease . . 0.71586 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4947 358213 6 81055803 C T 304349 Benign Maple_syrup_urine_disease . . 0.71566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4948 681218 6 83880167 C T 655752 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4949 672119 6 83881740 T C 655753 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4950 802247 6 85473758 C T 790663 Benign Multicystic_renal_dysplasia,_bilateral . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4951 95391 6 88182704 G C 101290 Benign Congenital_disorder_of_glycosylation|not_speci... 0.67411 . 0.64597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4952 4843 6 88218600 C CCACT 19882 risk_factor CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIf... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4953 358221 6 88221546 A G 304359 Benign Congenital_disorder_of_glycosylation|Pontoneoc... . . 0.63918 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4954 358228 6 88221892 T G 301220 Benign Congenital_disorder_of_glycosylation|Pontoneoc... . . 0.63858 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4955 671612 6 88226641 A G 662427 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4956 683650 6 88244648 C T 662396 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4957 683649 6 88244770 T TTCTTA 662019 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4958 671595 6 88255438 T C 662404 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4959 358264 6 97338598 A T 304408 Benign Mitochondrial_complex_I_deficiency . . 0.93411 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4960 358266 6 97338648 T A 309128 Likely_benign Mitochondrial_complex_I_deficiency . . 0.29133 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4961 129692 6 97339088 C T 135138 Benign Mitochondrial_complex_I_deficiency|not_specifi... 0.89217 0.89442 0.93391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4962 358272 6 97339275 C CA 309036 Benign/Likely_benign Mitochondrial_complex_I_deficiency|not_specifi... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4963 677882 6 97345054 G C 662440 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4964 681227 6 97345233 G A 662041 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4965 354670 6 100837889 T A 305273 Benign Schaaf-yang_syndrome . . 0.39876 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4966 354672 6 100838124 T A 305275 Likely_benign Schaaf-yang_syndrome . . 0.01218 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4967 418019 6 101215223 TA T 406785 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4968 129169 6 102247673 T C 134615 Likely_benign not_specified 0.2392 0.2537 0.41514 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4969 354761 6 107475278 T TA 305215 Likely_benign Coenzyme_Q10_deficiency,_primary . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4970 683453 6 107533160 T G 661460 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4971 683452 6 107655119 A G 661389 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4972 674100 6 107781028 G A 661498 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4973 130361 6 107956095 A G 135808 Benign not_specified . 0.98878 0.97963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4974 354812 6 108189328 C T 298570 Benign Polycystic_liver_disease_1 . . 0.92951 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4975 354813 6 108189333 T TGTC 305479 Benign Polycystic_liver_disease_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4976 354821 6 108189427 TA T 305322 Benign Polycystic_liver_disease_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4977 354825 6 108189477 T G 298582 Benign Polycystic_liver_disease_1 . . 0.92871 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4978 354826 6 108189515 G A 305329 Benign Polycystic_liver_disease_1 . . 0.92452 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4979 354842 6 108190246 C T 300935 Benign Polycystic_liver_disease_1 . . 0.86262 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4980 354859 6 108190976 GTTTTTT G,GT 305401 Benign Polycystic_liver_disease_1 . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
4981 354861 6 108191007 T C 305408 Benign Polycystic_liver_disease_1 . . 0.75579 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4982 354863 6 108191114 AAAAC A 300960 Benign Polycystic_liver_disease_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4983 354865 6 108191203 C T 305512 Benign Polycystic_liver_disease_1 . . 0.96905 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4984 354868 6 108191382 A G 305515 Benign Polycystic_liver_disease_1 . . 0.86242 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4985 354871 6 108191510 T G 305516 Benign Polycystic_liver_disease_1 . . 0.86302 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4986 354888 6 108192785 A T 305541 Benign Polycystic_liver_disease_1 . . 0.86282 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4987 95474 6 108233929 G A 101373 Benign Polycystic_liver_disease_1|not_specified 0.87537 0.85888 0.85503 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4988 354921 6 108279290 G A 305591 Benign Polycystic_liver_disease_1 . . 0.92572 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
4989 354946 6 108363688 T C 305473 Benign Osteopetrosis . . 0.34405 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4990 354954 6 108364106 A G 301056 Benign Osteopetrosis . . 0.34405 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4991 354961 6 108364582 T C 305520 Benign Osteopetrosis . . 0.21845 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4992 354969 6 108364951 T C 301078 Benign Osteopetrosis . . 0.21885 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4993 354976 6 108365658 T C 305637 Benign Osteopetrosis . . 0.47644 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4994 781755 6 108985057 G A 710103 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4995 220332 6 110012714 C T 221621 Benign/Likely_benign Charcot-Marie-Tooth_disease_type_4|not_specifi... 0.00317 0.00811 0.0016 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4996 668145 6 110038102 G A 661063 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4997 673440 6 110048165 C T 661506 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4998 673441 6 110053721 T G 661070 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
4999 694980 6 110053824 G GT 683117 Uncertain_significance Charcot-Marie-Tooth_disease . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5000 260451 6 110059510 C A 252050 Benign not_specified 0.31906 0.3844 0.33806 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5001 668146 6 110059954 G A 661491 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5002 680179 6 110062873 T G 661500 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5003 681668 6 110085366 G T 661393 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5004 680181 6 110085423 T C 661395 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5005 260447 6 110106234 A G 252054 Benign Charcot-Marie-Tooth_disease,_type_4J|Amyotroph... 0.51423 . 0.35883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5006 670527 6 110107197 G A 661436 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5007 680184 6 110110554 A C 661442 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5008 670528 6 110110943 G T 661078 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5009 260449 6 110146303 G A 252056 Benign Charcot-Marie-Tooth_disease_type_4|not_specifi... 0.32147 0.42887 0.39577 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5010 355052 6 110146588 C T 298744 Benign Charcot-Marie-Tooth_disease_type_4|Amyotrophic... . . 0.44828 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5011 403565 6 111901453 G T 389644 Benign not_specified 0.83954 0.85361 0.93171 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5012 355054 6 112375307 A G 298749 Benign Progressive_pseudorheumatoid_dysplasia . . 0.23862 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5013 355060 6 112382313 G T 301225 Benign Progressive_pseudorheumatoid_dysplasia 0.33615 0.26062 0.29892 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5014 672745 6 112430886 T C 661518 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5015 44405 6 112435264 T G 53572 Benign Dilated_cardiomyopathy_1JJ|not_specified 0.25719 0.23929 0.24002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5016 44406 6 112435273 A C 53573 Benign Dilated_cardiomyopathy_1JJ|not_specified 0.25811 . 0.24002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5017 672744 6 112435444 G GAAT 661450 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5018 672743 6 112435682 G A 661503 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5019 672742 6 112435796 G C 661082 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5020 673048 6 112435807 G T 661084 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5021 44401 6 112435912 A T 53568 Benign Dilated_cardiomyopathy_1JJ|not_specified 0.30494 0.26713 0.28175 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5022 678524 6 112436198 G T 661530 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5023 678505 6 112436821 G A 661514 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5024 671121 6 112443134 G A 661521 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5025 671120 6 112450351 G C 661527 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5026 671119 6 112450520 T C 661477 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5027 683590 6 112456123 CAGGT C 661535 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5028 672708 6 112457145 A T 661483 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5029 672707 6 112457156 T C 661550 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5030 44377 6 112457383 G C 53544 Benign Dilated_cardiomyopathy_1JJ|not_specified 0.22205 . 0.21046 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5031 44376 6 112457390 C T 53543 Benign Dilated_cardiomyopathy_1JJ|not_specified 0.75135 0.76915 0.83986 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5032 44375 6 112457471 G A 53542 Benign Dilated_cardiomyopathy_1JJ|not_specified 0.75273 0.76937 0.84046 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5033 671118 6 112460541 G A 661488 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5034 673047 6 112462882 G A 661543 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5035 677986 6 112463076 T C 661107 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5036 673044 6 112469179 T C 661561 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5037 671117 6 112471688 G C 661590 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5038 673042 6 112472005 A G 661591 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5039 671116 6 112476210 T C 661501 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5040 678500 6 112477139 G C 661128 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5041 44348 6 112493872 A G 53515 Benign Dilated_cardiomyopathy_1JJ|not_specified 0.64878 0.66492 0.75839 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5042 678499 6 112499656 G T 661618 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5043 673010 6 112506375 G A 661620 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5044 671115 6 112506583 G T 661508 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5045 177976 6 112508769 TG GT 178204 Benign not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5046 672702 6 112537497 A G 661646 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5047 355088 6 116441222 AG A 301242 Likely_benign Metaphyseal_chondrodysplasia . 0.02642 0.00399 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5048 256259 6 116441229 T TGGG 252058 Benign Metaphyseal_chondrodysplasia|Metaphyseal_chond... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5049 256260 6 116441646 C G 252060 Benign Metaphyseal_chondrodysplasia|Metaphyseal_chond... 0.16093 . 0.21366 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5050 162165 6 116443735 T A 171878 not_provided not_provided . . 0.44549 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5051 256262 6 116446576 A G 252061 Benign Metaphyseal_chondrodysplasia|Metaphyseal_chond... 0.49731 0.38046 0.44549 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5052 683469 6 116720129 T A 661630 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5053 384684 6 116720487 C T 368304 Benign not_specified 0.26065 0.22432 0.13658 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5054 678582 6 116754277 G A 661182 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5055 678111 6 116754456 G T 661187 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5056 165061 6 116950833 T C 174342 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.69883 0.64698 0.71006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5057 165062 6 116951678 A C 174480 Benign/Likely_benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.11126 0.09006 0.13538 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5058 257050 6 116951761 C G 252066 Benign not_specified 0.05482 0.06448 0.06789 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5059 355130 6 116954040 A C 305786 Likely_benign Primary_ciliary_dyskinesia . . 0.09046 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5060 769691 6 117113765 T TTCC 699269 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5061 403328 6 118869423 A C 389721 Benign not_specified . . 0.01897 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5062 355141 6 118880640 T G 298827 Likely_benign Hypertrophic_cardiomyopathy|Dilated_Cardiomyop... . . 0.39437 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5063 355176 6 121769905 A AT 301331 Benign Syndactyly|Oculodentodigital_dysplasia|Hypopla... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5064 355191 6 123537837 A G 298869 Benign Catecholaminergic_polymorphic_ventricular_tach... . . 0.48403 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5065 355206 6 123539609 C T 301350 Benign Catecholaminergic_polymorphic_ventricular_tach... . . 0.3758 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5066 355209 6 123539731 G A 301354 Uncertain_significance Catecholaminergic_polymorphic_ventricular_tach... 0.00067 0.00044 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5067 259915 6 123539904 C T 252068 Benign not_specified 0.42124 0.42535 0.376 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5068 674826 6 123580660 C T 661633 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5069 674825 6 123589106 C T 661570 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5070 227114 6 123594510 T TA 229391 Benign/Likely_benign Catecholaminergic_polymorphic_ventricular_tach... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5071 680815 6 123637909 C T 661681 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5072 674818 6 123658680 A G 661638 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5073 227111 6 123658825 G T 229396 Benign Catecholaminergic_polymorphic_ventricular_tach... 0.12349 0.2749 0.29373 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5074 674816 6 123673455 G T 661686 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5075 227110 6 123687288 A C 229399 Benign Catecholaminergic_polymorphic_ventricular_tach... 0.92551 . 0.9393 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5076 674814 6 123687432 T C 661647 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5077 680832 6 123698544 G A 661218 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5078 227106 6 123699042 T C 229404 Benign/Likely_benign Catecholaminergic_polymorphic_ventricular_tach... 0.35442 0.34231 0.27217 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5079 259914 6 123702499 G A 252069 Benign not_specified 0.30345 0.47353 0.47624 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5080 678038 6 123818095 G A 661596 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5081 674793 6 123818580 A G 661599 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5082 678159 6 123818628 G C 661226 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5083 680813 6 123825367 T C 661232 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5084 227123 6 123833457 G C 229411 Benign Catecholaminergic_polymorphic_ventricular_tach... 0.84245 0.82588 0.84325 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5085 680811 6 123837617 A G 661236 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5086 674823 6 123850194 G A 661691 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5087 680812 6 123850730 A G 661655 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5088 674821 6 123851447 T A 661657 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5089 674817 6 123851538 G C 661248 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5090 674815 6 123851590 G A 661693 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5091 674813 6 123851610 G A 661697 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5092 674796 6 123851865 A T 661699 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5093 674869 6 123868288 A G 661701 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5094 674867 6 123869459 A G 661640 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5095 355225 6 123869769 TAAA T 298899 Uncertain_significance Catecholaminergic_polymorphic_ventricular_tach... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5096 674791 6 123869906 G T 661711 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5097 674790 6 123891882 G A 661671 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5098 674844 6 123892337 G A 661716 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5099 684020 6 129371533 G A 661722 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5100 92955 6 129381026 C A 98862 Benign Merosin_deficient_congenital_muscular_dystroph... 0.94733 0.95784 0.9367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5101 256079 6 129465020 G A 252071 Benign not_specified|not_provided 0.25454 0.21458 0.2474 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5102 682904 6 129465422 G A 661723 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5103 682907 6 129468288 A T 661658 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5104 668910 6 129469813 C A 661266 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5105 682915 6 129486913 T C 661659 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5106 682917 6 129498736 A C 661682 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5107 92943 6 129571330 G A 98850 Benign Merosin_deficient_congenital_muscular_dystroph... 0.26972 0.18276 0.27097 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5108 682903 6 129571488 A T 661268 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5109 671435 6 129591515 C T 661685 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5110 682906 6 129600962 G A 661684 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5111 682909 6 129612563 G T 661692 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5112 682911 6 129612624 C T 661284 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5113 92949 6 129612808 A G 98856 Benign Merosin_deficient_congenital_muscular_dystroph... 0.25842 0.2683 0.3139 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5114 256063 6 129619059 G A 252086 Benign not_specified|not_provided 0.0842 0.13458 0.18251 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5115 682913 6 129619150 G A 661729 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5116 682914 6 129621725 A G 661698 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5117 256066 6 129633970 TTG T 252088 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5118 92951 6 129634255 G A 98858 Benign Merosin_deficient_congenital_muscular_dystroph... 0.22774 0.219 0.35523 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5119 682921 6 129634426 G A 661702 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5120 92952 6 129635800 G A 98859 Benign/Likely_benign Merosin_deficient_congenital_muscular_dystroph... 0.09111 0.06873 0.12001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5121 671452 6 129641374 T C 661700 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5122 682924 6 129641510 G C 661703 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5123 196660 6 129670493 C T 193821 Conflicting_interpretations_of_pathogenicity Merosin_deficient_congenital_muscular_dystroph... 0.003 0.00334 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5124 682920 6 129704589 C T 661740 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5125 218657 6 131948816 T TA 215327 Benign/Likely_benign History_of_neurodevelopmental_disorder|not_spe... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5126 355347 6 132203470 AT A 299023 Benign Arterial_calcification,_generalized,_of_infanc... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5127 13590 6 132212694 A G 28629 Benign Obesity|Arterial_calcification,_generalized,_o... . . 0.55471 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5128 355377 6 132212742 A C 299056 Benign Arterial_calcification,_generalized,_of_infanc... . . 0.41274 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5129 355381 6 132212808 C T 301463 Benign Arterial_calcification,_generalized,_of_infanc... . . 0.55371 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5130 355398 6 132213623 G C 301470 Benign Arterial_calcification,_generalized,_of_infanc... . . 0.64756 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5131 355424 6 132215375 C T 299088 Benign Arterial_calcification,_generalized,_of_infanc... . . 0.56749 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5132 44773 6 133789728 G A 53940 Benign/Likely_benign not_specified|Cardiovascular_phenotype|Dilated... 0.38298 0.34169 0.40955 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5133 676338 6 133802542 G A 661797 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5134 355448 6 133849966 C T 299116 Likely_benign Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_... 0.33269 0.43432 0.47105 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5135 355453 6 133851207 T A 299121 Likely_benign Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_... . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5136 355455 6 133851377 A G 299127 Likely_benign Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_... . . 0.83467 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5137 355467 6 133852245 G A 305907 Likely_benign Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_... . . 0.01198 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5138 355477 6 133852957 T C 306198 Likely_benign Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_... . . 0.02855 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5139 132871 6 135426573 A G 136620 Likely_pathogenic Fetal_hemoglobin_quantitative_trait_locus_2 . . 0.17532 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5140 95757 6 135639644 C T 101654 Benign Joubert_syndrome|Joubert_syndrome_3|not_specified 0.58313 0.62864 0.59485 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5141 128326 6 135716008 T C 133775 Benign/Likely_benign Joubert_syndrome|not_specified|not_provided 0.01858 0.02652 0.01138 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5142 260839 6 135763866 G A 252135 Benign Joubert_syndrome|Joubert_syndrome_3|not_specified 0.82028 0.91061 0.82288 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5143 667961 6 135778371 A G 661803 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5144 166664 6 135787184 C T 177234 Benign/Likely_benign not_specified|not_provided 0.00239 0.00398 0.002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5145 673960 6 135813251 G T 661813 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5146 402420 6 136582497 G T 389734 Benign not_specified . 0.49764 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5147 802274 6 137166682 G A 790592 Benign Rhizomelic_chondrodysplasia_punctata_type_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5148 402973 6 137325901 TAA TA,T 389720 Benign not_specified . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
5149 133990 6 139197609 G A 137729 not_provided not_specified 0.26691 0.28764 0.27616 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5150 802278 6 142718801 G A 790596 Benign Lethal_congenital_contracture_syndrome_9 . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5151 802279 6 142758631 A G 790597 Benign Lethal_congenital_contracture_syndrome_9 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5152 259105 6 143784031 AT A 252147 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5153 167458 6 143792078 C G 177938 Benign not_specified|not_provided 0.30993 0.27257 0.32368 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5154 259108 6 143806276 A G 252150 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.48716 0.44284 0.57089 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5155 355585 6 143810909 A G 306045 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.12899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5156 355659 6 144512671 T TA 306156 Benign Familial_hemophagocytic_lymphohistiocytosis . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5157 670732 6 146007166 G A 661845 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5158 95306 6 146056476 G C 101205 Benign Seizures|Lafora_disease|not_specified|not_prov... 0.69556 . 0.65336 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5159 670731 6 146056801 G A 655716 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5160 670730 6 146056848 T C 655717 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5161 668132 6 146057289 C T 661806 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5162 2062 6 149721690 G A 17101 risk_factor Diabetes_mellitus,_insulin-dependent,_5 . 0.55508 0.64597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5163 355674 6 150710632 A G 306195 Conflicting_interpretations_of_pathogenicity Congenital_hypothyroidism|not_provided 0.00961 0.00321 0.00938 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5164 257584 6 150716696 T C 252155 Benign Iodotyrosine_deiodination_defect|not_specified 0.92094 0.86147 0.87201 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5165 355689 6 150719710 C T 306479 Likely_benign Congenital_hypothyroidism . . 0.33287 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5166 355707 6 150720439 C T 306245 Benign Congenital_hypothyroidism . . 0.8768 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5167 355710 6 150720571 T G 299312 Benign Congenital_hypothyroidism . . 0.80072 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5168 355714 6 150720908 T C 299319 Benign Congenital_hypothyroidism . . 0.63279 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5169 355715 6 150720920 G A 306246 Uncertain_significance Congenital_hypothyroidism . . 0.01098 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5170 355731 6 150721445 A G 306512 Likely_benign Congenital_hypothyroidism . . 0.29433 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5171 355734 6 150721724 CA C 306278 Likely_benign Congenital_hypothyroidism . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5172 355738 6 150721850 G A 306280 Uncertain_significance Congenital_hypothyroidism . . 0.02057 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5173 355740 6 150721882 C T 306538 Likely_benign Congenital_hypothyroidism . . 0.29213 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5174 355742 6 150722144 A G 306289 Uncertain_significance Congenital_hypothyroidism . . 0.02057 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5175 355755 6 150723028 G A 306542 Likely_benign Congenital_hypothyroidism . . 0.09066 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5176 355758 6 150723368 A C 306545 Benign Congenital_hypothyroidism . . 0.79772 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5177 355759 6 150723408 G A 299355 Likely_benign Congenital_hypothyroidism . . 0.09125 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5178 355760 6 150723616 A G 299359 Likely_benign Congenital_hypothyroidism . . 0.29173 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5179 355761 6 150723668 G A 299361 Likely_benign Congenital_hypothyroidism . . 0.29173 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5180 355764 6 150723812 T C 301822 Likely_benign Congenital_hypothyroidism . . 0.29173 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5181 355766 6 150724047 A ACTGGGGGTGATTCAC 301834 Benign Congenital_hypothyroidism . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5182 355767 6 150724064 A C 299366 Likely_benign Congenital_hypothyroidism . . 0.3772 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5183 355770 6 150724563 G A 306570 Uncertain_significance Congenital_hypothyroidism . . 0.02157 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5184 355772 6 150724706 C A 299376 Likely_benign Congenital_hypothyroidism . . 0.11122 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5185 355780 6 150725086 TA T 301838 Likely_benign Congenital_hypothyroidism . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5186 355793 6 152442821 C A 306600 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... . . 0.19589 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5187 355794 6 152442903 CT C 306312 Uncertain_significance Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5188 355803 6 152443389 C T 299385 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... . . 0.19589 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5189 130433 6 152453291 G A 135879 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.05444 0.05133 0.02576 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5190 262194 6 152461048 CTGTT C 252156 Benign not_specified|not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5191 262193 6 152461061 G A 252157 Benign not_specified|not_provided 0.43926 0.40228 0.44449 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5192 194305 6 152469329 G C 191468 Benign/Likely_benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.00038 0.0006 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5193 670212 6 152476952 G C 661868 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5194 670211 6 152522812 T G 661430 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5195 670210 6 152523143 G A 661874 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5196 670209 6 152534946 T A 661827 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5197 670206 6 152536374 T A 661898 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5198 670205 6 152539181 C T 661891 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5199 683973 6 152539857 T C 661895 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5200 130419 6 152540278 A C 135865 Benign/Likely_benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.99308 0.99228 0.99561 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5201 670201 6 152542868 G T 661922 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5202 670200 6 152546740 G A 661927 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5203 670199 6 152547151 T C 661468 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5204 670198 6 152552375 G A 661833 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5205 262178 6 152555112 C T 252170 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.16877 0.23745 0.20887 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5206 683971 6 152556258 T C 661469 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5207 262177 6 152558111 T TA 252171 Benign/Likely_benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5208 670196 6 152560478 C A 661841 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5209 670195 6 152560916 G A 661843 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5210 670192 6 152561045 C T 661478 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5211 670191 6 152565897 T C 661930 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5212 683953 6 152566105 A G 661847 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5213 262176 6 152570415 G A 252172 Benign not_specified 0.62389 0.6578 0.68071 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5214 670190 6 152576591 A G 661920 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5215 670188 6 152590617 T G 661485 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5216 672754 6 152602726 G A 661925 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5217 683965 6 152604821 A G 661950 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5218 683962 6 152604844 A G 661938 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5219 672753 6 152615042 G T 661941 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5220 670187 6 152622876 T A 661860 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5221 262172 6 152629586 G A 252176 Benign not_specified|not_provided 0.46156 0.50011 0.45747 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5222 670185 6 152629815 C T 661954 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5223 670184 6 152638209 A G 661489 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5224 670183 6 152638239 T C 661965 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5225 683950 6 152638412 A G 661969 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5226 683952 6 152646693 T C 661499 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5227 130408 6 152647681 A T 135855 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.81047 0.77974 0.8147 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5228 130404 6 152652034 A T 135851 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.79586 0.77597 0.80332 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5229 262160 6 152653037 T C 252183 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.4863 0.46079 0.41314 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5230 130399 6 152658142 T C 135846 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.78818 0.75468 0.79313 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5231 262158 6 152658191 T C 252186 Benign not_specified|not_provided 0.80063 0.75842 0.79014 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5232 670177 6 152658216 A G 661865 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5233 670173 6 152660310 A G 661510 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5234 130398 6 152660451 G A 135845 Benign/Likely_benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.11618 0.1142 0.07328 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5235 683949 6 152660837 G T 661984 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5236 130397 6 152665261 C A 135844 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.56728 0.57615 0.54553 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5237 683947 6 152665628 C T 661988 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5238 683945 6 152667931 T A 661875 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5239 683943 6 152668628 C G 661890 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5240 263075 6 152671475 A C 252188 Benign Spinocerebellar_ataxia,_autosomal_recessive_8|... 0.59619 0.58462 0.58746 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5241 670171 6 152671553 A G 661897 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5242 355885 6 152671919 G GA 306415 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5243 670170 6 152671975 A G 661991 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5244 670169 6 152672031 T C 661953 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5245 670168 6 152672073 T C 661522 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5246 670167 6 152673043 G A 661955 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5247 262154 6 152673147 G A 252189 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.57827 0.579 0.5659 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5248 262153 6 152673519 A C 252190 Benign not_specified|not_provided 0.5796 . 0.56749 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5249 683939 6 152674089 T G 661901 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5250 683938 6 152674132 T C 661904 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5251 670165 6 152675054 T C 661957 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5252 683935 6 152675137 C T 661995 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5253 130393 6 152675854 A G 135840 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.58119 0.57994 0.56829 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5254 670162 6 152683108 A G 661528 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5255 670161 6 152683183 G T 661916 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5256 670160 6 152683199 G A 661919 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5257 130388 6 152683413 G T 135835 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.64809 0.65412 0.65915 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5258 262206 6 152688567 C T 252193 Benign not_specified|not_provided 0.93226 0.87377 0.86362 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5259 262204 6 152690559 G A 252195 Benign not_specified|not_provided 0.46279 0.4818 0.41094 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5260 130453 6 152694184 T C 135899 Benign Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst... 0.52883 . 0.46825 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5261 683934 6 152702821 G A 661979 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5262 683928 6 152712133 C A 661929 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5263 670153 6 152770435 T C 661603 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5264 262164 6 152793412 C A 252207 Benign not_specified|not_provided 0.78302 0.76573 0.85523 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5265 670151 6 152826627 C T 662098 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5266 683894 6 152949109 A G 662107 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5267 670150 6 152949230 T G 661628 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5268 774186 6 153077332 C T 699401 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5269 9538 6 154360797 A G 24577 drug_response Drugs_used_in_opioid_dependence_response_-_Dos... 0.09697 0.1856 0.22344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5270 671615 6 158536116 A T 661629 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5271 680781 6 158539828 A G 662009 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5272 680778 6 158541175 G A 662011 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5273 387771 6 158549156 A G 370286 Likely_benign not_specified . 2e-05 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5274 671702 6 158568161 G A 661635 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5275 680779 6 158569686 G A 662130 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5276 139094 6 158569886 T C 142797 Benign not_specified 0.41341 0.47085 0.40056 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5277 671740 6 158570024 A AT 661642 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5278 139093 6 158571501 G A 142796 Benign not_specified|not_provided 0.70514 0.71735 0.71386 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5279 671614 6 158571655 G C 662145 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5280 676193 6 158571706 G C 661650 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5281 14751 6 160113872 A G 29790 drug_response SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascu... . 0.50239 0.41074 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5282 403448 6 160560897 CTGGTAAGT C 389722 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5283 692202 6 161152240 G A 679944 Benign Otitis_media,_susceptibility_to . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5284 355998 6 161769835 T C 302100 Likely_benign Parkinson_Disease,_Juvenile . . 0.05771 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5285 356006 6 161770479 G A 299579 Likely_benign Parkinson_Disease,_Juvenile . . 0.09844 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5286 259433 6 162622304 A G 252218 Benign not_specified 0.94034 0.93292 0.95048 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5287 8181 6 166574246 G A 23220 risk_factor Neural_tube_defects,_susceptibility_to . . 0.79732 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5288 669503 6 166796665 C T 662016 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5289 682625 6 166796720 T C 662113 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5290 682624 6 166796832 C G 662127 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5291 356027 6 167343141 G A 302139 Benign/Likely_benign Leukoencephalopathy,_cystic,_without_megalence... 0.08781 . 0.07548 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5292 356032 6 167344583 A G 302143 Benign Leukoencephalopathy,_cystic,_without_megalence... 0.23997 0.17309 0.18451 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5293 356038 6 167369650 G A 299616 Likely_benign Leukoencephalopathy,_cystic,_without_megalence... 0.05242 0.04012 0.02316 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5294 12713 6 169635010 G A 27752 risk_factor Lumbar_disc_herniation,_susceptibility_to 0.30098 0.36843 0.35563 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5295 768123 6 169972627 G A 699457 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5296 380786 6 170162515 A C 368809 Benign not_specified 0.21259 0.1503 0.20707 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5297 668134 6 170179698 T C 662154 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5298 130561 6 170878793 T C 136007 Likely_benign not_specified 0.55359 0.53191 0.61462 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5299 193730 7 299850 G T 190893 Benign not_specified 0.51818 0.47353 0.53115 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5300 193731 7 299881 A G 190894 Benign not_specified 0.50679 . 0.52536 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5301 260939 7 780980 T G 252915 Benign not_specified 0.79183 0.8385 0.75899 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5302 260922 7 794471 A G 252920 Benign not_specified 0.83872 0.83334 0.82668 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5303 260930 7 810219 T C 252936 Benign not_specified 0.43195 0.43043 0.39137 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5304 260932 7 814788 G A 252938 Benign not_specified 0.62694 0.62109 0.66873 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5305 792067 7 1786120 G A 710923 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5306 591286 7 2552881 A AGATG 582279 Uncertain_significance not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5307 257271 7 2566028 G A 252779 Benign not_specified 0.04371 0.04039 0.01997 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5308 257272 7 2566433 G A 252780 Benign not_specified 0.0614 0.06713 0.03514 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5309 585490 7 2577781 T C 576963 Benign not_provided 0.43803 0.38948 0.46146 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5310 446896 7 2578237 TC CT 441075 Benign not_specified|not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5311 585492 7 2583328 C T 576970 Benign not_provided 0.15134 0.17849 0.09625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5312 402477 7 2946461 T C 389742 Benign not_specified 0.54659 0.51631 0.59645 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5313 402479 7 2962753 G A 389781 Benign not_specified 0.63464 0.67951 0.50539 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5314 402480 7 2969680 G A 389794 Benign not_specified 0.17146 0.18791 0.10204 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5315 402481 7 2976767 G A 389822 Benign not_specified 0.14847 . 0.09066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5316 742980 7 4801861 C T 750665 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5317 778294 7 5396916 G A 777862 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5318 135065 7 6026775 T C 138804 Benign Hereditary_nonpolyposis_colorectal_cancer_type... 0.87039 0.85139 0.88319 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5319 41703 7 6026865 T C 50142 Benign Hereditary_cancer-predisposing_syndrome|Lynch_... 0.02076 . 0.01098 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5320 595920 7 6035021 C A 586981 Benign not_specified . . 0.14916 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5321 91371 7 6035507 C T 96846 Benign Lynch_syndrome . . 0.15176 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5322 36693 7 6036980 G C 45354 Benign Hereditary_cancer-predisposing_syndrome|Lynch_... 0.82377 . 0.83127 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5323 91280 7 6048804 G C 96755 Benign Lynch_syndrome . . 0.15615 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5324 91284 7 6048973 C A 96759 Benign Lynch_syndrome 0.2415 0.22118 0.23203 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5325 682708 7 10978789 A T 662146 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5326 682704 7 10979396 A G 662578 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5327 359485 7 16127297 G T 302341 Benign Congenital_Muscular_Dystrophy,_alpha-dystrogly... . . 0.33367 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5328 359491 7 16127845 G A 302352 Uncertain_significance Congenital_Muscular_Dystrophy,_alpha-dystrogly... . . 0.01198 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5329 359547 7 16129172 A G 305641 Benign Congenital_Muscular_Dystrophy,_alpha-dystrogly... . 0.99474 0.99641 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5330 359556 7 16129643 T C 310607 Benign Congenital_Muscular_Dystrophy,_alpha-dystrogly... . . 0.8121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5331 359566 7 16130332 C A 302392 Benign Congenital_Muscular_Dystrophy,_alpha-dystrogly... . . 0.82987 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5332 359582 7 16131260 C T 310459 Benign Congenital_Muscular_Dystrophy,_alpha-dystrogly... . . 0.79633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5333 257460 7 16131286 G C 252661 Benign/Likely_benign not_specified|Congenital_Muscular_Dystrophy,_a... 0.0403 . 0.02336 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5334 682001 7 16255602 A T 662925 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5335 682000 7 16298434 T C 662835 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5336 681997 7 16298438 T G 662363 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5337 681995 7 16298766 A AT 662840 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5338 683645 7 16347827 A T 662364 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5339 681994 7 16348059 T C 662850 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5340 681979 7 16461092 T C 662379 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5341 403464 7 17854575 G GAA 390597 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5342 402927 7 18767343 A G 389811 Benign not_specified 0.23507 0.31174 0.32987 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5343 402925 7 18993870 C T 389817 Benign not_specified 0.76875 0.76792 0.77356 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5344 178721 7 21582917 C T 174188 Benign/Likely_benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.08347 0.09156 0.0613 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5345 93682 7 21582963 GA TT 99585 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5346 93693 7 21599233 C T 99596 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.4536 0.46831 0.54293 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5347 163097 7 21628237 C T 174192 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.99013 0.99043 0.99062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5348 93684 7 21630982 A G 99587 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.4346 0.43478 0.53035 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5349 178725 7 21640361 T C 174059 Benign/Likely_benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.35193 0.35292 0.22045 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5350 163100 7 21640405 A G 174194 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.81529 0.78867 0.76777 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5351 163102 7 21641218 G A 174195 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.80067 0.78468 0.75379 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5352 93687 7 21658855 A G 99590 Benign Primary_ciliary_dyskinesia|not_specified 0.51261 0.48895 0.5619 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5353 93688 7 21659554 A ATTAAT 99591 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5354 93690 7 21659645 T C 99593 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.39861 0.39588 0.42332 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5355 93692 7 21723573 A T 99595 Benign/Likely_benign Primary_ciliary_dyskinesia|not_specified 0.22629 0.21313 0.22684 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5356 163110 7 21775443 G A 174201 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.8575 . 0.75539 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5357 163112 7 21778449 C T 174202 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.66476 0.64086 0.53954 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5358 163113 7 21779278 A G 174068 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.53138 0.5341 0.3728 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5359 163121 7 21893993 G T 174075 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.59899 0.57047 0.45947 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5360 163126 7 21901566 T C 174212 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.75771 0.72554 0.63439 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5361 178735 7 21924014 A G 174079 Benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.71675 . 0.6224 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5362 178739 7 21939032 C A 174216 Benign/Likely_benign Primary_ciliary_dyskinesia|not_specified|not_p... 0.25408 . 0.19349 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5363 695364 7 21940815 C T 683887 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5364 359702 7 21940960 A G 310581 Likely_benign Primary_ciliary_dyskinesia . . 0.21546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5365 359713 7 22980929 A AAC 302509 Benign Hypomyelination_and_Congenital_Cataract . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5366 359719 7 22981404 T G 305783 Benign Hypomyelination_and_Congenital_Cataract . . 0.22504 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5367 359721 7 22981528 T C 310823 Benign Hypomyelination_and_Congenital_Cataract . . 0.42752 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5368 359725 7 22982207 T C 302520 Benign Hypomyelination_and_Congenital_Cataract . . 0.42772 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5369 359730 7 22982547 G A 310601 Benign Hypomyelination_and_Congenital_Cataract . . 0.22065 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5370 359743 7 22983600 T C 305847 Benign Hypomyelination_and_Congenital_Cataract . . 0.22504 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5371 359745 7 22983702 A T 302533 Benign Hypomyelination_and_Congenital_Cataract . . 0.66713 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5372 359749 7 22983890 T C 305881 Benign Hypomyelination_and_Congenital_Cataract . . 0.67213 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5373 359758 7 22984772 AG CA 302539 Uncertain_significance Hypomyelination_and_Congenital_Cataract . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5374 359760 7 22984824 T C 302544 Benign Hypomyelination_and_Congenital_Cataract . . 0.65295 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5375 359762 7 22984967 A G 310888 Benign Hypomyelination_and_Congenital_Cataract . . 0.20248 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5376 706630 7 22999894 A C 692215 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5377 21726 7 23015831 T C 34578 Benign Hypomyelination_and_Congenital_Cataract|not_sp... 0.34451 0.37382 0.3748 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5378 359798 7 23164701 C T 310950 Benign/Likely_benign PERCHING_syndrome|Retinitis_Pigmentosa,_Dominant 0.45815 0.35375 0.42033 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5379 802302 7 23195555 CTTTAT C 790717 Benign PERCHING_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5380 359825 7 24738164 C G 305960 Likely_benign Nonsyndromic_Hearing_Loss,_Mixed . . 0.12001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5381 44840 7 24742436 T C 54007 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Mixed 0.14801 0.19612 0.20188 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5382 227286 7 24747802 C T 229594 Likely_benign not_specified 0.00031 0.00017 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5383 44844 7 24758795 T C 54011 Benign not_specified|Nonsyndromic_Hearing_Loss,_Mixed 0.53737 0.57116 0.73762 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5384 359877 7 25159184 T C 310733 Likely_benign Thrombocytopenia . . 0.77816 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5385 359878 7 25159211 A T 306005 Likely_benign Thrombocytopenia . . 0.47304 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5386 359896 7 25160369 T C 310753 Likely_benign Thrombocytopenia . . 0.01577 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5387 359907 7 25160988 A G 310762 Likely_benign Thrombocytopenia . . 0.4391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5388 359922 7 25161602 A G 306027 Likely_benign Thrombocytopenia . . 0.01577 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5389 359923 7 25161614 A ATGTT 306034 Likely_benign Thrombocytopenia . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5390 359953 7 27134003 G T 302746 Likely_benign Athabaskan_brainstem_dysgenesis|Bosley-Salih-A... . . 0.03974 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5391 369585 7 27135314 C T 353814 Benign Microtia,_hearing_impairment,_and_cleft_palate 0.73043 0.766 0.78075 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5392 432169 7 30054488 CCTT C 425750 Conflicting_interpretations_of_pathogenicity not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5393 683987 7 30634004 T C 662895 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5394 258532 7 30634661 C G 252786 Benign Peripheral_axonal_neuropathy|Charcot-Marie-Too... 0.73988 . 0.64936 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5395 258537 7 30643069 C A 252787 Benign not_specified 0.49141 0.55177 0.39916 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5396 681750 7 30652090 C T 662916 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5397 683989 7 30657193 A G 662934 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5398 681718 7 30662237 G A 662938 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5399 258536 7 30673345 C T 252795 Benign Peripheral_axonal_neuropathy|Charcot-Marie-Too... 0.48979 0.55254 0.40415 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5400 360021 7 30673512 TA T 311094 Uncertain_significance Peripheral_axonal_neuropathy|Charcot-Marie-Too... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5401 226023 7 30726777 A T 227761 drug_response selective_beta-2-adrenoreceptor_agonists_respo... . . 0.41534 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5402 440011 7 33060946 A G 433763 Benign not_specified 0.7171 0.68069 0.66693 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5403 167609 7 33134883 T C 177381 Benign/Likely_benign Retinitis_pigmentosa_9|not_specified|Retinitis... 0.16785 0.20785 0.17552 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5404 360045 7 33136983 G A 311120 Benign Retinitis_Pigmentosa,_Dominant 0.994 0.99376 0.99661 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5405 360051 7 33169258 C G 306176 Likely_benign Bardet-Biedl_syndrome . . 0.15795 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5406 360055 7 33169406 G A 306180 Likely_benign Bardet-Biedl_syndrome . . 0.04673 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5407 360059 7 33169660 T C 306185 Likely_benign Bardet-Biedl_syndrome . . 0.14876 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5408 263126 7 33192502 A G 252797 Benign not_specified 0.15554 0.18852 0.15755 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5409 802303 7 33385852 C T 790719 Benign Bardet-Biedl_syndrome_9 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5410 263117 7 33388713 G A 252807 Benign/Likely_benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.17553 0.20415 0.17133 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5411 360112 7 34125420 G T 302890 Benign Diaphanospondylodysostosis 0.24727 . 0.1893 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5412 360118 7 34192762 G C 306226 Benign Diaphanospondylodysostosis 0.90305 . 0.91014 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5413 360138 7 34194102 A G 311236 Benign Diaphanospondylodysostosis . . 0.26657 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5414 2192 7 34818113 A T 17231 risk_factor Asthma-related_traits,_susceptibility_to,_2 . 0.44655 0.46745 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5415 518385 7 35293193 A G 508825 Benign Atrial_septal_defect_4|Cardiovascular_phenotype 0.74627 0.67668 0.69389 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5416 260759 7 37901581 G A 252825 Benign not_specified 0.93472 0.88854 0.83686 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5417 260762 7 37903904 C T 252827 Benign not_specified 0.79082 . 0.74062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5418 164801 7 37907304 T C 174226 Benign not_specified 0.7871 0.73828 0.74341 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5419 164804 7 37924737 T G 174093 Benign not_specified 0.4411 . 0.55332 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5420 260754 7 37924879 A G 252837 Benign not_specified 0.44126 0.52817 0.55332 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5421 221007 7 37934146 TA CT 221701 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5422 260756 7 37934234 G A 252839 Benign not_specified 0.65126 0.65957 0.61202 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5423 559088 7 40228078 A T 549617 Benign not_provided 0.08489 . 0.20527 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5424 559092 7 40314165 G A 549621 Benign not_provided 0.28434 0.35979 0.31609 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5425 559093 7 40314243 A G 549622 Benign not_provided 0.28214 . 0.34225 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5426 559095 7 40899967 G C 549624 Benign not_provided 0.29979 . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5427 360161 7 42000924 C T 311248 Benign Polydactyly|Pallister-Hall_syndrome|Greig_ceph... . . 0.3113 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5428 360162 7 42001171 G A 302940 Benign Polydactyly|Pallister-Hall_syndrome|Greig_ceph... . . 0.26617 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5429 360209 7 42003500 G A 306272 Benign Polydactyly|Pallister-Hall_syndrome|Greig_ceph... . . 0.45168 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5430 255433 7 42005678 G A 252855 Benign Polydactyly|Pallister-Hall_syndrome|Greig_ceph... 0.25635 0.4558 0.42153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5431 681351 7 42007071 C T 662963 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5432 255420 7 42064852 C G 252868 Benign Polydactyly|Pallister-Hall_syndrome|Greig_ceph... 0.96778 0.97346 0.96346 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5433 683174 7 42079356 C A 662928 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5434 683173 7 42084728 A G 662965 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5435 255446 7 42088222 T C 252880 Benign Polydactyly|Pallister-Hall_syndrome|Greig_ceph... 0.66185 0.56303 0.60363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5436 683170 7 42188330 T C 662420 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5437 360286 7 44183975 TG T 306342 Benign Maturity_onset_diabetes_mellitus_in_young|Perm... . . 0.41114 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5438 129147 7 44185088 G A 134593 Benign Maturity_onset_diabetes_mellitus_in_young|Perm... 0.3349 0.36806 0.41314 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5439 673534 7 44189321 A G 662425 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5440 676858 7 44190468 T G 662432 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5441 683651 7 44198944 G GC 662969 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5442 403258 7 44579180 G C 389750 Benign not_specified 0.2229 0.24775 0.2472 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5443 261965 7 45077978 G A 252887 Benign Cerebral_cavernous_malformations_2|not_specified 0.06505 0.06287 0.03295 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5444 712069 7 47971659 T C 730500 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5445 691984 7 50466304 A G 679730 association Leukemia,_acute_lymphoblastic_2 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5446 694328 7 50470604 T G 682220 association Leukemia,_acute_lymphoblastic_2 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5447 360432 7 50544314 C T 311345 Benign Deficiency_of_aromatic-L-amino-acid_decarboxyl... 0.20952 0.2089 0.19828 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5448 360449 7 55086755 G T 303193 Likely_benign Lung_cancer . . 0.22644 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5449 360450 7 55086780 A C 311361 Likely_benign Lung_cancer . . 0.92971 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5450 134021 7 55229255 G A 137760 Benign/Likely_benign Lung_cancer|not_specified 0.20268 0.28696 0.29213 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5451 259677 7 55238874 T A 252901 Benign/Likely_benign Lung_cancer|not_specified 0.32247 . 0.39038 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5452 45271 7 55249063 G A 54438 Benign/Likely_benign Lung_cancer|not_specified 0.54244 0.52278 0.43271 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5453 360476 7 55273591 G GA 311489 Likely_benign Lung_cancer . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5454 360482 7 55274084 T C 306517 Likely_benign Lung_cancer . . 0.1869 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5455 92588 7 65425894 A G 98496 Benign Mucopolysaccharidosis_type_VII|not_specified|n... 0.49085 0.57963 0.58067 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5456 528232 7 65432567 T C 522777 Benign not_provided . . 0.5599 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5457 92583 7 65439879 G C 98491 Benign not_specified|not_provided 0.48854 0.57221 0.5643 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5458 92591 7 65444359 T TGA 98499 Benign not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5459 680525 7 65541307 C G 662958 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5460 676097 7 65551931 T C 662962 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5461 675236 7 65552614 T C 662438 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5462 129370 7 66098384 G A 134816 Benign/Likely_benign Seizures|Progressive_myoclonic_epilepsy|not_sp... 0.08304 0.10228 0.07827 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5463 262690 7 66103435 C CAGGA 252906 Benign not_specified|not_provided 0.10737 0.1288 0.1254 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5464 360600 7 66105163 C G 306626 Benign Progressive_myoclonic_epilepsy . . 0.6238 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5465 360601 7 66105198 C A 303285 Benign Progressive_myoclonic_epilepsy . . 0.6236 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5466 360619 7 66106875 A G 303299 Benign Progressive_myoclonic_epilepsy . . 0.6234 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5467 360627 7 66107971 C G 311548 Likely_benign Progressive_myoclonic_epilepsy . . 0.11282 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5468 21544 7 66453460 G A 34396 Benign Shwachman-Diamond_syndrome_1|not_specified 0.03937 0.03826 0.01817 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5469 675424 7 73457255 G A 663006 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5470 177898 7 73474825 G C 176596 Benign Supravalvar_aortic_stenosis|Cutis_laxa,_autoso... 0.07251 0.07119 0.04014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5471 683509 7 73475775 G A 662978 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5472 683865 7 73480805 G A 663031 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5473 360671 7 73483531 C CA 306729 Benign Supravalvar_aortic_stenosis|Cutis_laxa,_autoso... . . 0.29014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5474 138789 7 75614082 C G 142492 Benign Antley-Bixler_syndrome_with_genital_anomalies_... 0.85271 0.90909 0.8119 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5475 138790 7 75614953 T C 142493 Benign Antley-Bixler_syndrome_with_genital_anomalies_... 0.8729 . 0.83526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5476 256840 7 75615006 C T 252929 Benign/Likely_benign Antley-Bixler_syndrome_with_genital_anomalies_... 0.23674 0.3639 0.28614 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5477 360731 7 75616105 G A 303417 Likely_benign Antley-Bixler_syndrome_with_genital_anomalies_... . . 0.26877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5478 667830 7 75677504 C T 655803 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5479 129565 7 77756580 T C 135011 Benign not_specified|not_provided 0.88398 0.82481 0.78654 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5480 129564 7 77756724 C T 135010 Benign not_specified|not_provided 0.88398 0.8244 0.78634 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5481 129557 7 78119109 C T 135003 Benign not_specified|not_provided 0.34546 0.2942 0.32308 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5482 360740 7 80231504 G C 306836 Likely_benign Platelet_glycoprotein_IV_deficiency . . 0.63339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5483 487077 7 80242920 A G 480401 . . . . 0.34685 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5484 360748 7 80275455 A C 311770 Likely_benign Platelet_glycoprotein_IV_deficiency . . 0.39197 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5485 360754 7 80290369 A G 311791 Likely_benign Platelet_glycoprotein_IV_deficiency 0.92034 0.96494 0.91833 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5486 43607 7 81346685 T C 52776 Benign/Likely_benign Deafness,_autosomal_recessive_39|not_specified... 0.75304 . 0.79832 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5487 674767 7 81598988 G A 662981 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5488 674594 7 81600197 A G 663052 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5489 674593 7 81600267 T G 663057 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5490 674592 7 81601231 C G 663065 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5491 678451 7 81604102 A AGTATTAG 662984 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5492 416574 7 81634822 GA G 396450 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5493 668817 7 81641188 T C 663067 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5494 516741 7 81641570 G GAAA 501832 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5495 683280 7 81667117 A C 663072 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5496 683279 7 81667804 A G 662988 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5497 674634 7 81693768 T C 663083 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5498 668894 7 81964857 G T 663009 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5499 668892 7 81978624 A G 663013 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5500 260254 7 83029438 C T 252945 Benign not_specified|not_provided 0.33808 0.42234 0.33946 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5501 260257 7 83034754 T A 252946 Benign not_specified 0.45994 0.60634 0.55511 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5502 260255 7 83037751 C A 252948 Benign not_specified|not_provided 0.46163 0.6078 0.55631 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5503 194754 7 83590852 T C 191917 Benign not_specified 0.58358 0.6132 0.61202 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5504 256164 7 87032613 A G 252949 Benign not_specified 0.92342 . 0.87999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5505 256161 7 87053206 G A 252952 Benign not_specified 0.92596 0.89901 0.8736 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5506 256160 7 87056176 T C 252953 Benign Progressive_familial_intrahepatic_cholestasis|... 0.16854 0.10565 0.17033 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5507 198082 7 87082292 G A 195243 Benign Progressive_familial_intrahepatic_cholestasis|... 0.40412 0.47648 0.34784 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5508 225939 7 87138645 A G 227763 drug_response MDR1_POLYMORPHISM|fentanyl_response_-_Dosage,_... 0.57666 0.50344 0.60483 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5509 166622 7 87160618 A C 176988 drug_response Inflammatory_bowel_disease_13|not_specified|on... 0.67807 . 0.61701 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5510 194187 7 87179601 A G 191350 Benign not_specified|not_provided 0.6424 0.54191 0.58387 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5511 683171 7 91570129 C T 663016 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5512 360809 7 91570290 G C 311831 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . . 0.62859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5513 672176 7 91570615 C A 662996 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5514 682737 7 91622676 G A 663113 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5515 671862 7 91629984 T G 663021 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5516 671863 7 91630001 G C 662508 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5517 136347 7 91630620 G T 140050 Benign/Likely_benign Long_QT_syndrome|Colorectal_cancer|Long_QT_syn... 0.44047 0.3829 0.3722 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5518 136349 7 91632306 C T 140052 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.90635 0.89239 0.9359 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5519 136350 7 91641928 A G 140053 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.4418 0.38378 0.3738 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5520 671864 7 91643402 G T 663007 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5521 682744 7 91645152 G C 662510 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5522 671865 7 91645265 A G 662514 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5523 671629 7 91645893 T C 663025 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5524 671866 7 91646198 C T 663027 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5525 190508 7 91652178 A AAAC 188441 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|not_spec... 0.47907 0.39892 0.42472 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5526 671867 7 91659150 C G 663018 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5527 671868 7 91661111 G C 663024 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5528 671869 7 91667692 T G 662517 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5529 682746 7 91668365 G A 662525 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5530 671870 7 91669808 G A 663128 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5531 671871 7 91671853 C A 663033 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5532 682749 7 91672403 G A 663037 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5533 136331 7 91674302 G A 140034 Benign Long_QT_syndrome_11|not_specified 0.48316 0.39928 0.42851 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5534 682750 7 91674807 T C 663032 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5535 677984 7 91681789 G GA 662526 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5536 671872 7 91690457 A G 663040 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5537 136333 7 91691601 C T 140036 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.42773 0.37946 0.35982 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5538 671873 7 91691946 G T 662537 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5539 682752 7 91699779 G A 663131 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5540 682753 7 91699907 A C 662538 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5541 677811 7 91699980 C T 663134 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5542 136335 7 91707197 C T 140038 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.42697 0.40765 0.36242 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5543 671874 7 91708219 T C 662548 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5544 671885 7 91711791 A G 663055 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5545 136340 7 91712698 A G 140043 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.35607 0.35934 0.29593 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5546 136341 7 91713972 C T 140044 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.44096 0.38317 0.3738 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5547 136342 7 91714911 C T 140045 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.99739 0.9962 0.9988 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5548 136343 7 91715662 C T 140046 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.35568 0.35888 0.29573 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5549 669435 7 91725694 G C 663035 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5550 136344 7 91726927 A C 140047 Benign/Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_... 0.44626 0.38459 0.3774 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5551 671886 7 91727385 G A 662564 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5552 677812 7 91735299 A G 663153 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5553 671003 7 91736464 T G 663043 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5554 671887 7 91736794 T A 663069 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5555 671888 7 91736874 A G 663070 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5556 671889 7 91736921 C T 663049 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5557 682754 7 91737057 T C 663050 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5558 677167 7 91743150 A G 655811 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5559 360872 7 91829671 A AT 303560 Benign Angiokeratoma_corporis_diffusum_with_arteriove... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5560 360922 7 92129161 CA C 303594 Conflicting_interpretations_of_pathogenicity Peroxisome_biogenesis_disorder_1A_(Zellweger)|... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5561 93105 7 92131289 G T 99012 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.93172 0.92182 0.94988 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5562 93112 7 92147584 C T 99019 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.86468 0.87926 0.89397 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5563 17636 7 93055753 A G 32675 risk_factor Bone_mineral_density_quantitative_trait_locus_15 . 0.38003 0.54353 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5564 683354 7 94023646 C A 663154 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5565 683355 7 94035892 C T 663053 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5566 254957 7 94038934 C T 252979 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase... 0.80993 0.78155 0.82808 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5567 254958 7 94039032 C T 252980 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase... 0.80409 0.77422 0.82428 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5568 674811 7 94039900 C T 663158 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5569 674812 7 94040133 T A 663163 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5570 254952 7 94041937 A C 252981 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase... 0.36106 . 0.32728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5571 254953 7 94043239 C G 252982 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase... 0.79433 . 0.82169 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5572 683330 7 94044222 T C 663176 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5573 674831 7 94052495 A G 662589 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5574 674833 7 94056244 C G 663080 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5575 360976 7 94059899 C T 312030 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase... . . 0.22145 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5576 360983 7 94060359 A AGTTGTCC 303655 Benign Ehlers-Danlos_syndrome,_procollagen_proteinase... . . 0.78794 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5577 487363 7 94227276 T G 480429 Benign Myoclonic_dystonia . 0.6954 0.76238 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5578 13735 7 94937446 T C 28774 association,_risk_factor Enzyme_activity_finding|Coronary_artery_diseas... . 0.37705 0.54293 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5579 13736 7 94946084 A T 28775 association,_risk_factor Enzyme_activity_finding|Coronary_artery_diseas... . 0.29127 0.18271 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5580 13737 7 94953895 G A 28776 other Enzyme_activity_finding . . 0.34904 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5581 402811 7 95668664 C A 389826 Benign not_specified 0.2249 0.19991 0.21186 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5582 402812 7 95709666 C A 389761 Benign not_specified 0.46248 0.48975 0.4365 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5583 683863 7 95820219 T C 663105 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5584 260371 7 95864108 T C 252989 Benign Citrin_deficiency|Citrullinemia_type_I|not_spe... 0.68899 0.61792 0.60982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5585 667997 7 97488569 A T 655822 Benign Asparagine_synthetase_deficiency|not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5586 16916 7 99382096 C T 31955 drug_response CYP3A4_PROMOTER_POLYMORPHISM|Cyp3a4-v|tacrolim... . . 0.76917 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5587 678005 7 99701176 G A 662419 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5588 678154 7 99703505 A G 662448 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5589 21369 7 100225031 G A 34221 Benign Hereditary_hemochromatosis|Hemochromatosis_typ... 0.16306 0.24751 0.12999 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5590 16602 7 100317298 C A 31641 risk_factor Microvascular_complications_of_diabetes_2 . . 0.67472 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5591 403615 7 100371473 C T 389693 Benign not_specified . 0.51457 0.23702 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5592 403616 7 100371474 G A 389793 Benign not_specified . 0.47243 0.44549 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5593 769334 7 100385561 GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT G 699700 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5594 811000 7 100410597 G A 799458 Benign not_specified . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5595 811646 7 100411278 T C 799459 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5596 811643 7 100416250 A G 799464 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5597 358316 7 100781084 T C 304468 Benign Plasminogen_activator_inhibitor_type_1_deficiency . . 0.43091 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5598 358319 7 100781445 T G 309196 Benign Plasminogen_activator_inhibitor_type_1_deficiency . . 0.43051 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5599 358325 7 100781711 T TCGCGCCCCC 309203 Benign Plasminogen_activator_inhibitor_type_1_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5600 358338 7 100782460 G A 309223 Benign Plasminogen_activator_inhibitor_type_1_deficiency . . 0.34165 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5601 48339 7 103053435 A G 57501 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.39874 0.315 0.44269 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5602 358369 7 103112862 C T 309106 Benign Lissencephaly,_Recessive . . 0.9984 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5603 358373 7 103113192 C T 301324 Likely_benign Lissencephaly,_Recessive . . 0.02356 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5604 95209 7 103124207 T C 101109 Benign Lissencephaly_2|not_specified|Lissencephaly,_R... 0.17477 0.13892 0.23163 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5605 669141 7 103129951 A G 662447 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5606 668966 7 103130805 A G 662059 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5607 669140 7 103131495 A C 662443 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5608 670928 7 103132208 G A 662072 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5609 669139 7 103132671 A T 662461 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5610 95234 7 103138517 C G 101134 Benign Lissencephaly_2|not_specified|Lissencephaly,_R... 0.99093 0.98696 0.99561 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5611 95231 7 103151436 T C 101131 Benign/Likely_benign Lissencephaly_2|not_specified|Lissencephaly,_R... 0.04759 0.04981 0.07808 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5612 668965 7 103151772 A G 662462 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5613 95230 7 103155705 A G 101130 Benign Lissencephaly_2|not_specified|Lissencephaly,_R... 0.49546 0.47219 0.64836 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5614 669137 7 103162370 C T 662451 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5615 669136 7 103162847 T C 662477 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5616 684074 7 103163552 A C 662456 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5617 684073 7 103164238 T C 662080 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5618 259612 7 103175965 C T 252553 Benign not_specified|not_provided 0.75688 . 0.71026 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5619 669135 7 103176052 C T 662466 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5620 669134 7 103191428 C T 662464 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5621 684071 7 103193651 T C 662468 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5622 669132 7 103201735 T C 662484 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5623 259608 7 103207234 T C 252557 Benign not_specified 0.46732 0.4137 0.47364 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5624 669129 7 103207411 G GAAGGAAA 662488 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5625 669128 7 103214940 T C 662092 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5626 669119 7 103229849 T C 662498 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5627 684067 7 103230541 A C 662097 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5628 684064 7 103243492 T C 662103 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5629 668948 7 103270088 T A 662499 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5630 670968 7 103275803 T C 662505 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5631 669112 7 103294305 T C 662490 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5632 670722 7 103302279 C G 662496 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5633 95224 7 103389954 A G 101124 Benign Lissencephaly_2|not_specified|Lissencephaly,_R... 0.51076 0.49602 0.46546 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5634 668946 7 103473658 C T 662511 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5635 416378 7 105188996 G A 395528 Benign not_specified 0.02522 0.02737 0.01118 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5636 358437 7 106842683 A ATCTT 309207 Likely_benign Congenital_disorder_of_glycosylation . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5637 358442 7 106843133 G C 309212 Likely_benign Congenital_disorder_of_glycosylation . . 0.13019 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5638 358445 7 106843416 AT A 301392 Likely_benign Congenital_disorder_of_glycosylation . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5639 358458 7 106897237 A C 304590 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.15893 0.1983 0.12979 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5640 380060 7 107002573 T C 369409 Benign not_specified 0.16246 0.22286 0.13558 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5641 95374 7 107002806 A G 101273 Benign Congenital_disorder_of_glycosylation|not_speci... 0.6547 0.55077 0.64836 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5642 516397 7 107052927 AAC A 502153 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5643 358473 7 107188719 G T 309240 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.26565 0.26513 0.2488 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5644 379958 7 107198405 A T 369124 Benign not_specified 0.41335 0.42304 0.37999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5645 358515 7 107356759 G A 304660 Likely_benign Pendred_syndrome|Nonsyndromic_Hearing_Loss,_Re... . . 0.24141 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5646 358538 7 107414419 A G 309313 Benign Congenital_secretory_diarrhea,_chloride_type 0.99162 0.99357 0.998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5647 358545 7 107423254 C T 309333 Benign Congenital_secretory_diarrhea,_chloride_type 0.14232 0.15807 0.15096 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5648 683735 7 107544208 C G 662116 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5649 137094 7 107545799 T C 140797 Benign/Likely_benign Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... 0.64852 0.61818 0.71605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5650 137102 7 107559722 A T 140805 Benign Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... 0.29758 . 0.27576 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5651 358575 7 107559911 G A 309370 Benign Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... . . 0.71066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5652 358579 7 107560191 C T 301488 Benign Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... . . 0.71446 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5653 358583 7 107560651 G T 301489 Likely_benign Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... . . 0.27236 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5654 358584 7 107560682 T C 304740 Benign Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... . . 0.71466 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5655 358588 7 107561155 T C 301500 Benign Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... . . 0.71526 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5656 358589 7 107561392 G A 301501 Likely_benign Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... . . 0.27217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5657 358592 7 107561494 TTTTA T 304744 Uncertain_significance Maple_syrup_urine_disease|Leigh_syndrome|Pyruv... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5658 682993 7 107565007 A C 662521 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5659 681226 7 107565138 C T 662524 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5660 682982 7 107566430 A G 662528 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5661 682981 7 107566488 G T 662118 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5662 380841 7 107569517 A G 368852 Benign not_specified 0.45348 0.40556 0.43351 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5663 681244 7 107575557 G A 662529 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5664 682979 7 107580839 A G 662540 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5665 682978 7 107581035 A G 662122 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5666 681225 7 107581115 C G 662497 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5667 682977 7 107591914 A G 662124 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5668 380837 7 107593989 T C 369153 Benign not_specified 0.65231 0.64469 0.69549 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5669 681233 7 107594549 G A 662126 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5670 681223 7 107600558 C T 662128 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5671 682976 7 107601523 T C 662500 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5672 380838 7 107603431 A C 370717 Benign not_specified 0.30586 . 0.28574 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5673 682972 7 107604818 T G 662546 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5674 681222 7 107605412 C T 662531 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5675 682968 7 107613379 G A 662544 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5676 682975 7 107615274 C T 662551 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5677 380839 7 107615506 C T 369160 Benign not_specified 0.09488 0.10127 0.09724 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5678 682974 7 107616011 C G 662556 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5679 682973 7 107616049 C A 662135 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5680 682971 7 107616068 T C 662519 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5681 682970 7 107616078 G A 662558 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5682 682967 7 107618420 A G 662561 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5683 681243 7 107626186 C T 662563 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5684 380836 7 107626770 G A 368881 Benign not_specified 0.10726 0.11785 0.09125 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5685 682962 7 107626994 A G 662520 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5686 682961 7 107635105 G C 662565 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5687 682960 7 107643521 T G 662569 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5688 8706 7 113518434 C A 23745 risk_factor Insulin_resistance,_susceptibility_to . 0.21906 0.30871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5689 358653 7 114332234 A T 304847 Benign Speech-language_disorder_1 . 0.01422 0.00998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5690 672478 7 116165360 A C 662532 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5691 673350 7 116165463 T C 662606 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5692 358681 7 116312582 G T 304869 Uncertain_significance Renal_cell_carcinoma,_papillary,_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5693 802347 7 116381121 G GT 790675 Benign Renal_cell_carcinoma,_papillary,_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5694 802351 7 116409675 CT C 790679 Benign Renal_cell_carcinoma,_papillary,_1 . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5695 194024 7 116409690 TC T 191187 Conflicting_interpretations_of_pathogenicity Renal_cell_carcinoma,_papillary,_1|not_specifi... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5696 677866 7 116409950 T C 662576 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5697 51029 7 117119337 T G 65697 Likely_benign Cystic_fibrosis|not_specified . . 0.0012 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5698 358760 7 120428607 G A 304926 Benign Familial_exudative_vitreoretinopathy 0.77176 0.80483 0.84625 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5699 260253 7 120428799 C A 252574 Benign Familial_exudative_vitreoretinopathy|not_speci... 0.77364 0.80322 0.85144 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5700 677020 7 124465097 A T 662585 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5701 677019 7 124465509 A C 662622 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5702 677017 7 124469267 A T 662155 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5703 677016 7 124469587 G A 662596 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5704 677015 7 124480869 T C 662550 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5705 516586 7 124481245 G A 501786 Benign not_specified 0.38886 0.41138 0.41893 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5706 677014 7 124481403 T A 662599 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5707 677013 7 124481420 T A 662600 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5708 516585 7 124486980 T C 501547 Benign not_specified 0.71044 0.69502 0.72185 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5709 677012 7 124492038 T C 662629 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5710 475094 7 124499002 AT CA 457119 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5711 677011 7 124503196 C T 662634 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5712 678869 7 124538615 C T 662570 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5713 678868 7 124568710 A G 662611 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5714 358778 7 127250597 G A 304937 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.66913 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5715 358791 7 127250907 T C 301741 Benign Maturity_onset_diabetes_mellitus_in_young . 0.76323 0.66933 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5716 129878 7 127251188 T G 135324 Benign Maturity_onset_diabetes_mellitus_in_young|not_... 0.76892 0.75781 0.67053 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5717 129876 7 127253898 G A 135322 Benign/Likely_benign Maturity_onset_diabetes_mellitus_in_young|not_... 0.05213 0.04513 0.01777 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5718 369576 7 127255795 C G 353805 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.60244 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5719 778362 7 127892146 A G 699807 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5720 358839 7 127896536 A G 301816 Benign Leptin_deficiency_or_dysfunction|Monogenic_Non... . . 0.94768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5721 358842 7 127897021 G A 304954 Likely_benign Leptin_deficiency_or_dysfunction|Monogenic_Non... . . 0.11861 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5722 358845 7 127897069 C A 309786 Likely_benign Leptin_deficiency_or_dysfunction|Monogenic_Non... . . 0.46006 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5723 772900 7 127983761 C T 699809 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5724 358876 7 128038555 C G 309824 Likely_benign Leber_congenital_amaurosis|Retinitis_Pigmentos... 0.13886 0.16094 0.13019 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5725 768200 7 128140982 T C 699817 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5726 679871 7 128470376 C T 662641 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5727 680197 7 128470462 C A 662171 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5728 680198 7 128470482 G A 662173 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5729 129081 7 128470838 C T 134527 Benign not_specified|not_provided 0.09374 0.09446 0.11002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5730 680200 7 128481857 A T 662181 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5731 680201 7 128485850 T G 662620 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5732 226641 7 128487866 T C 229552 Benign not_specified 0.99125 0.99731 0.99062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5733 3396 7 128578301 G T 18435 Pathogenic,_risk_factor Rheumatoid_arthritis|Systemic_lupus_erythemato... . . 0.41354 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5734 768201 7 128587351 CACTCTGCAGCCGCCCACTCTGCGGCCGCCT C 699841 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5735 3397 7 128589427 G A 18436 risk_factor Systemic_lupus_erythematosus_10 . . 0.53594 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5736 670796 7 128597587 T G 662623 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5737 260265 7 128607384 G A 252607 Benign not_specified 0.51061 0.4779 0.47684 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5738 670783 7 128619415 T A 662691 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5739 670239 7 128630227 C T 662651 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5740 670777 7 128630313 T C 662655 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5741 670782 7 128633722 T C 662203 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5742 668976 7 128640188 A G 662650 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5743 670775 7 128640293 C T 662653 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5744 670773 7 128640334 A T 662206 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5745 260268 7 128641226 G C 252612 Benign not_specified 0.3716 0.40972 0.34185 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5746 670772 7 128644857 C T 662657 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5747 670778 7 128645292 A C 662208 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5748 668974 7 128645513 T C 662692 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5749 670776 7 128654840 T A 662654 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5750 670770 7 128655434 A AT 662662 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5751 670768 7 128656831 C T 662694 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5752 670753 7 128657277 T C 662661 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5753 670752 7 128694976 C T 655780 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5754 679866 7 128695279 A G 662664 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5755 403462 7 128846328 G C 389787 Benign not_specified 0.78964 0.79749 0.75619 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5756 258474 7 130021488 G C 252615 Benign not_specified 0.55068 . 0.58227 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5757 358883 7 130033630 C T 301846 Benign Joubert_syndrome . 0.53683 0.55531 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5758 358896 7 130034437 C G 309694 Benign Joubert_syndrome . 0.33946 0.34944 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5759 358899 7 130034695 T C 309860 Likely_benign Joubert_syndrome . 0.20622 0.23403 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5760 358905 7 130035205 G GA 301897 Benign Joubert_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5761 261053 7 130080812 T G 252622 Benign Joubert_syndrome|not_specified 0.37137 0.44928 0.47863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5762 703788 7 136701308 T A 692161 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5763 259891 7 137801413 A C 252626 Benign not_specified|Congenital_Bile_Acid_Synthesis_D... 0.82239 . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5764 358956 7 137801444 C T 305060 Benign Congenital_Bile_Acid_Synthesis_Defect 0.81739 0.77813 0.77796 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5765 358962 7 137801770 A C 309898 Likely_benign Congenital_Bile_Acid_Synthesis_Defect . . 0.18171 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5766 358965 7 137801915 G A 305064 Benign Congenital_Bile_Acid_Synthesis_Defect . . 0.77895 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5767 740628 7 138333819 C T 750441 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5768 358999 7 138391130 C T 309792 Benign Distal_Renal_Tubular_Acidosis,_Recessive . . 0.20707 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5769 359000 7 138391207 G A 309812 Likely_benign Distal_Renal_Tubular_Acidosis,_Recessive . . 0.05132 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5770 261343 7 138417718 A G 252628 Benign not_specified|Distal_Renal_Tubular_Acidosis,_R... 0.63309 0.71972 0.67752 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5771 261342 7 138418910 G A 252629 Benign not_specified|Distal_Renal_Tubular_Acidosis,_R... 0.68322 0.72671 0.71665 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5772 261345 7 138455988 A G 252632 Benign not_specified|Distal_Renal_Tubular_Acidosis,_R... 0.7322 0.70398 0.67951 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5773 359047 7 140434597 G GA 302001 Uncertain_significance Noonan_syndrome|Noonan_syndrome_with_multiple_... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5774 768208 7 141796131 G A 699893 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5775 258803 7 142460865 T C 252642 Benign/Likely_benign not_specified . 0.50407 0.39377 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5776 768210 7 142583330 A C 699898 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5777 679149 7 143013171 T G 662683 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5778 359094 7 143016928 C T 302026 Benign Myotonia_congenita|not_specified 0.40797 . 0.32288 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5779 802378 7 143017807 G T 790706 Benign Congenital_myotonia,_autosomal_recessive_form . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5780 679150 7 143017960 C G 662687 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5781 679151 7 143020625 T C 662722 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5782 679908 7 143020649 G A 662215 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5783 679909 7 143028536 G A 662695 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5784 679910 7 143029371 G T 662702 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5785 289007 7 143029983 T C 273244 Benign not_specified 0.13748 0.14641 0.09245 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5786 679912 7 143030146 C A 662707 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5787 359111 7 143036337 C T 305233 Benign Myotonia_congenita|Congenital_myotonia,_autoso... 0.4724 0.4108 0.41434 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5788 680142 7 143039780 G A 662718 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5789 668095 7 143042321 C A 662742 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5790 680143 7 143042552 G A 662724 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5791 359118 7 143042837 C T 310073 Benign Myotonia_congenita 0.39901 0.53969 0.47824 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5792 359119 7 143043240 C T 302046 Benign Myotonia_congenita|not_specified 0.42327 0.39742 0.36941 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5793 718475 7 143094390 G A 730472 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5794 359135 7 144094613 G T 302073 Likely_benign Premature_ovarian_failure . 0.21541 0.10563 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5795 286525 7 144095600 A G 270762 Benign Premature_ovarian_failure|not_specified . 0.6807 0.69629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5796 138535 7 144096068 C T 142238 Benign Premature_ovarian_failure|not_specified 0.17761 0.26361 0.16214 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5797 359144 7 144096839 A G 305256 Benign Premature_ovarian_failure 0.59957 0.6757 0.70627 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5798 359152 7 144098992 G A 310019 Benign Premature_ovarian_failure 0.6005 0.63118 0.70627 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5799 138536 7 144107279 A G 142239 Benign/Likely_benign Premature_ovarian_failure|not_specified 0.12688 0.22857 0.10503 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5800 673728 7 144150996 T G 662740 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5801 359171 7 145813854 G A 305281 Benign Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like... . . 0.51198 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5802 5492 7 146489606 A T 20531 risk_factor Autism_15 . . 0.50539 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5803 672545 7 146805118 G C 662227 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5804 668785 7 146817813 C A 662758 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5805 679929 7 146826061 A G 662775 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5806 676748 7 146997498 A AAAAC 662778 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5807 668787 7 147258966 A C 662803 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5808 679930 7 147258991 A G 662730 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5809 679932 7 147259105 G A 662780 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5810 670632 7 147259374 A G 662804 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5811 670633 7 147259438 A G 662784 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5812 679927 7 147259551 C T 662735 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5813 5491 7 147574390 A G 20530 risk_factor Autism_15 . . 0.58866 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5814 668101 7 147914885 T G 662761 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5815 95567 7 147926888 A C 101465 Benign not_specified 0.4165 0.37547 0.36022 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5816 679936 7 147964377 A G 662808 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5817 668102 7 148080463 C T 662269 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5818 679931 7 148080499 T C 662809 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5819 679933 7 148080597 C T 662764 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5820 670650 7 148080647 T G 662814 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5821 95573 7 148106490 G A 101471 Benign History_of_neurodevelopmental_disorder|Pitt-Ho... 0.58504 0.54066 0.54912 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5822 670918 7 148106651 G A 662765 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5823 668103 7 148112234 T C 662770 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5824 670851 7 148112448 A T 662822 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5825 359199 7 148112872 C CA 305292 Benign Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like... . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5826 359202 7 148112987 C A 310071 Benign Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like... . . 0.66074 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5827 359208 7 148113623 ATAGTT A 310185 Benign Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5828 359241 7 148115638 GAA G 305319 Benign Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5829 359261 7 148116692 A AT 310143 Benign Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5830 359271 7 148117505 G C 302173 Benign Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like... . . 0.79353 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5831 259400 7 148504716 AG A 252646 Benign Weaver_syndrome|not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5832 680130 7 148504854 A AGACTT 662829 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5833 680128 7 148506064 A G 662836 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5834 680126 7 148508481 A G 662843 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5835 670472 7 148508833 A G 662278 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5836 670931 7 148543525 A G 662779 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5837 210966 7 148543693 TA T 207472 Benign Weaver_syndrome|not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5838 681701 7 148543753 C T 662853 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5839 671950 7 150645682 G A 662287 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5840 200230 7 150648198 A G 197235 Benign/Likely_benign Arrhythmia|Long_QT_syndrome|not_specified|Card... 0.69045 0.66584 0.77217 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5841 200228 7 150648789 T C 197263 Benign/Likely_benign Arrhythmia|Long_QT_syndrome|not_specified|Card... 0.48939 0.47859 0.60843 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5842 36428 7 150649531 G A 45091 Benign/Likely_benign Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia... 0.22636 0.29345 0.34165 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5843 255614 7 150649603 G A 252648 Benign/Likely_benign Arrhythmia|Long_QT_syndrome|not_specified|Card... 0.2302 . 0.34265 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5844 671949 7 150652286 C G 662883 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5845 678032 7 150654820 T C 662292 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5846 671895 7 150672162 T TC 662298 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5847 517660 7 150690079 C T 508751 protective Metabolic_syndrome,_susceptibility_to . . 0.76558 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5848 403248 7 150695726 T C 389810 Benign not_specified 0.75539 0.77013 0.81769 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5849 14015 7 150696111 T G 29054 Benign Ischemic_heart_disease,_susceptibility_to|Isch... . 0.75302 0.82368 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5850 403250 7 150708089 A G 389797 Benign not_specified 0.83923 0.84408 0.88838 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5851 403251 7 150709571 G T 389815 Benign not_specified 0.28845 0.3779 0.36182 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5852 667623 7 150878260 C G 655788 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5853 402398 7 150884266 C CAG 390498 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5854 359320 7 151253226 C T 302196 Likely_benign Wolff-Parkinson-White_syndrome|Glycogen_storag... . . 0.55391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5855 359322 7 151253246 G GA 302204 Uncertain_significance Wolff-Parkinson-White_syndrome|Glycogen_storag... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5856 359335 7 151253765 C A 305426 Likely_benign Wolff-Parkinson-White_syndrome|Glycogen_storag... . . 0.54992 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5857 359342 7 151254175 T C 302216 Likely_benign Wolff-Parkinson-White_syndrome|Glycogen_storag... . . 0.55431 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5858 683629 7 151254576 T C 662787 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5859 260694 7 151267353 G A 252649 Benign not_specified 0.0831 0.14304 0.14417 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5860 674539 7 151269916 C T 662896 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5861 260697 7 151292395 A AT 252652 Likely_benign not_specified 0.7069 0.76467 0.80471 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5862 683712 7 151483896 C G 662322 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5863 260692 7 151573731 G A 252655 Benign/Likely_benign Wolff-Parkinson-White_syndrome|Glycogen_storag... 0.12927 0.17431 0.1889 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5864 226011 7 154072020 T C 227765 drug_response antipsychotics_response_-_Toxicity/ADR . . 0.57728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5865 16631 7 155253993 G A 31670 Uncertain_significance Autism_10 . . 0.75739 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5866 16632 7 155254145 T C 31671 Uncertain_significance Autism_10 . . 0.75899 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5867 667597 7 155598666 T C 662812 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5868 669661 7 155598671 C A 662863 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5869 675003 7 155598879 A C 662864 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5870 255495 7 155599300 C T 252656 Benign not_specified 0.45208 0.58229 0.47504 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5871 359404 7 156475447 G A 310280 Benign Triphalangeal_thumb_polysyndactyly_syndrome . . 0.19669 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5872 359410 7 156476389 A G 310399 Benign Triphalangeal_thumb_polysyndactyly_syndrome . . 0.19848 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5873 359418 7 156476683 T A 310406 Benign Triphalangeal_thumb_polysyndactyly_syndrome . . 0.09225 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5874 669009 7 156584063 G C 662907 Benign/Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5875 768220 7 156584567 G C 699961 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5876 679305 7 157202282 T A 662349 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5877 668118 7 157208458 C T 662357 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5878 679296 7 157208617 C T 662888 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5879 359472 7 157209491 T C 302331 Benign Limb-Girdle_Muscular_Dystrophy,_Dominant|Myofi... . . 0.98163 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5880 359474 7 157209551 C T 310367 Benign Limb-Girdle_Muscular_Dystrophy,_Dominant|Myofi... . . 0.36082 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5881 516235 7 158664253 G A 502043 Benign not_specified 0.05208 0.05795 0.06669 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5882 516204 7 158672476 C G 502324 Benign Short-rib_thoracic_dysplasia_8_with_or_without... 0.99096 0.99196 0.99581 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5883 516219 7 158672619 A G 501998 Benign not_specified 0.45703 0.44104 0.57368 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5884 516205 7 158715219 A G 501695 Benign not_specified 0.84923 0.84191 0.88618 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5885 516206 7 158719084 C T 502000 Benign not_specified 0.76274 0.79308 0.78055 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5886 516225 7 158734813 C T 502053 Benign not_specified 0.16724 . 0.11282 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5887 679917 8 1728292 T C 662767 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5888 518390 8 1830928 A G 508830 Benign Slowed_nerve_conduction_velocity,_autosomal_do... 0.62841 0.66578 0.74241 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5889 618536 8 1833801 G C 609686 Benign Charcot-Marie-Tooth_disease|Slowed_nerve_condu... 0.1081 0.15937 0.16833 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5890 518392 8 1900855 A G 508832 Benign Slowed_nerve_conduction_velocity,_autosomal_do... 0.93058 0.94906 0.94948 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5891 363515 8 6264130 G C 314971 Benign Primary_Microcephaly,_Recessive 0.67266 . 0.53874 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5892 158854 8 6266774 G A 168641 Likely_benign not_specified 0.3269 0.25536 0.37201 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5893 670445 8 6272185 G T 662866 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5894 670446 8 6272477 A G 663359 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5895 670447 8 6272481 C G 663364 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5896 683148 8 6272532 T A 662867 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5897 683150 8 6272543 A C 663368 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5898 158879 8 6302154 G T 168657 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_1|not... 0.11818 0.11533 0.07029 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5899 96126 8 6302418 A G 102020 Benign Primary_autosomal_recessive_microcephaly_1|not... 0.99266 0.99798 0.99441 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5900 683151 8 6312880 C T 663363 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5901 158834 8 6338306 C A 168676 Benign/Likely_benign not_specified|Primary_Microcephaly,_Recessive 0.13297 . 0.14637 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5902 684323 8 6338689 G A 663369 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5903 158837 8 6377433 C T 168680 Likely_benign not_specified 0.24381 0.26481 0.14976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5904 158838 8 6378763 C T 168681 Likely_benign not_specified 0.36529 0.34491 0.3097 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5905 158839 8 6389889 C A 168682 Likely_benign not_specified 0.42734 . 0.28974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5906 361187 8 10463944 A C 312241 Benign Occult_macular_dystrophy . . 0.5605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5907 361200 8 10464307 G A 312140 Benign Occult_macular_dystrophy . . 0.46625 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5908 361207 8 10464616 G A 307279 Likely_benign Occult_macular_dystrophy 0.0033 0.00147 0.0004 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5909 361209 8 10464755 C T 312150 Benign Occult_macular_dystrophy 0.37674 0.47024 0.47205 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5910 361212 8 10464885 T C 312151 Benign Occult_macular_dystrophy 0.52271 0.60941 0.65096 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5911 361222 8 10465097 C T 312285 Benign Occult_macular_dystrophy 0.44608 0.37815 0.3121 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5912 361235 8 10465748 T C 312170 Benign Occult_macular_dystrophy 0.52186 0.60707 0.64936 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5913 361236 8 10465771 G T 312296 Benign Occult_macular_dystrophy 0.92405 0.94941 0.91973 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5914 361242 8 10465942 T A 307332 Benign Occult_macular_dystrophy 0.19618 0.25007 0.23742 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5915 361259 8 10466482 G A 312214 Benign Occult_macular_dystrophy 0.44982 0.38257 0.3107 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5916 361276 8 10467124 G C 312243 Benign Occult_macular_dystrophy 0.24391 0.29447 0.28175 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5917 361282 8 10467207 C A 303830 Benign Occult_macular_dystrophy 0.95158 0.98196 0.9409 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5918 361309 8 10468172 G A 312322 Benign Occult_macular_dystrophy 0.70705 0.73087 0.70807 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5919 361349 8 10469233 A G 312440 Benign Occult_macular_dystrophy 0.47706 0.42352 0.3149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5920 361367 8 10469817 G A 307405 Benign Occult_macular_dystrophy 0.84621 0.84465 0.79732 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5921 361372 8 10470068 C T 303896 Benign Occult_macular_dystrophy 0.44802 0.39123 0.29473 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5922 361437 8 10512511 G C 307484 Benign Occult_macular_dystrophy . . 0.48982 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5923 361468 8 11351912 C T 312558 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.42572 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5924 361471 8 11352056 A G 307514 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.82368 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5925 12319 8 11405576 G A 27358 Conflicting_interpretations_of_pathogenicity Maturity_onset_diabetes_mellitus_in_young|Matu... 0.0153 0.01171 0.01238 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5926 128527 8 11406593 T C 133976 Benign Maturity_onset_diabetes_mellitus_in_young|not_... 0.50969 0.483 0.41693 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5927 128529 8 11414237 T C 133978 Benign Maturity_onset_diabetes_mellitus_in_young|not_... 0.81247 0.83167 0.82768 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5928 361498 8 11421709 G C 304030 Likely_benign Maturity_onset_diabetes_mellitus_in_young . . 0.05012 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5929 361500 8 11421793 C T 304039 Benign Maturity_onset_diabetes_mellitus_in_young . 0.49323 0.55711 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5930 12320 8 11421955 T G 27359 Likely_benign Maturity_onset_diabetes_mellitus_in_young|Matu... . 0.01147 0.00399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5931 12321 8 11430641 C T 27360 Conflicting_interpretations_of_pathogenicity Maturity-onset_diabetes_of_the_young,_type_11 . . 0.0645 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5932 433016 8 11606312 T C 426523 Conflicting_interpretations_of_pathogenicity Congenital_heart_disease . . 0.87161 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5933 139596 8 11612698 C A 143221 Conflicting_interpretations_of_pathogenicity Congenital_heart_disease|not_provided 0.59396 . 0.73443 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5934 433015 8 11615695 A G 426531 Conflicting_interpretations_of_pathogenicity Congenital_heart_disease . . 0.27017 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5935 139593 8 11616338 A C 143218 Uncertain_significance not_provided . . 0.36142 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5936 139594 8 11616410 C T 143219 Uncertain_significance not_provided . . 0.22724 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5937 433026 8 11617240 A T 426534 Conflicting_interpretations_of_pathogenicity Congenital_heart_disease . . 0.39996 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5938 95430 8 15508200 T C 101329 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.30717 0.33798 0.29313 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5939 362319 8 15622454 C T 313481 Benign Congenital_disorder_of_glycosylation . . 0.74421 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5940 362320 8 15622519 T C 313572 Benign Congenital_disorder_of_glycosylation . . 0.75459 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5941 362328 8 15622858 A G 304690 Likely_benign Congenital_disorder_of_glycosylation . . 0.21326 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5942 14357 8 16012594 G A 29396 Conflicting_interpretations_of_pathogenicity Malignant_tumor_of_prostate|Hereditary_cancer-... . . 0.00539 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5943 670833 8 17137687 G A 662763 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5944 362350 8 17913970 G A 313506 Benign Farber_disease . . 0.71725 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5945 362355 8 17914305 G C 313616 Benign Farber_disease . . 0.27556 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5946 362356 8 17914314 A G 313621 Benign Farber_disease . . 0.27995 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5947 362357 8 17914331 ACTTC A 313622 Benign Farber_disease . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5948 362358 8 17914348 G A 304724 Likely_benign Farber_disease . . 0.07967 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5949 362359 8 17914356 G C 304726 Benign Farber_disease . . 0.27496 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5950 362364 8 17914709 C T 308429 Likely_benign Farber_disease . . 0.02835 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5951 362365 8 17914799 G A 304732 Likely_benign Farber_disease . . 0.10623 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5952 362367 8 17914859 A T 304736 Likely_benign Farber_disease . . 0.10603 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5953 362372 8 17914919 A T 304751 Benign Farber_disease . . 0.36422 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5954 678049 8 17916224 A C 663331 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5955 678048 8 17916553 C T 663292 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5956 259283 8 17918934 A G 253089 Benign Farber_disease|not_specified|not_provided 0.8666 0.94309 0.85024 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5957 362381 8 17924739 A T 304754 Benign/Likely_benign Farber_disease|not_specified|not_provided 0.03437 0.0422 0.02276 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5958 259280 8 17924849 C T 253092 Benign not_specified 0.22637 0.42155 0.39297 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5959 678046 8 17927061 G T 663336 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5960 678045 8 17927082 T C 662774 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5961 678030 8 17927184 A G 663339 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5962 678029 8 17927248 A C 663306 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5963 558958 8 17927280 G T 549640 Benign not_provided 0.34859 0.41308 0.33906 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5964 197388 8 17927294 C T 194549 Benign Farber_disease|not_specified|not_provided 0.42017 0.47781 0.41993 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5965 197389 8 17927327 T C 194550 Benign Farber_disease|not_specified|not_provided 0.42163 0.47965 0.42053 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5966 678028 8 17927516 A G 663312 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5967 678027 8 17927634 T C 663341 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5968 678026 8 17928626 A G 662793 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5969 259279 8 17928762 T TATA 253093 Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5970 259278 8 17928811 C T 253094 Benign Farber_disease|not_specified|not_provided 0.42427 0.53855 0.42053 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5971 259277 8 17928920 T C 253095 Benign not_specified|not_provided 0.42379 0.52437 0.42033 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5972 678025 8 17928999 G A 663351 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5973 678024 8 17930605 A C 663366 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5974 678023 8 17930727 G A 663319 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5975 678022 8 17930734 C A 662813 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5976 402397 8 17930772 C T 389782 Benign not_specified|not_provided 0.42394 0.46507 0.41354 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5977 678021 8 17930999 A G 662821 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5978 672022 8 17931091 C T 663322 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5979 259275 8 17933099 G A 253096 Benign/Likely_benign Farber_disease|not_specified|not_provided 0.10772 0.10638 0.11002 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5980 259276 8 17933146 C T 253097 Benign not_specified 0.10226 . 0.10623 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
5981 362390 8 17941668 C T 308432 Uncertain_significance Farber_disease . . 0.00699 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5982 558961 8 17942332 A G 549643 Benign not_provided 0.03406 0.04215 0.02476 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5983 17808 8 18080001 G A 32847 Benign NAT1*17_ALLELE|not_specified . 0.0209 0.01697 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5984 375653 8 18257795 C T 362499 drug_response ethambutol,_isoniazid,_pyrazinamide,_and_rifam... 0.35737 0.34489 0.39736 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5985 722 8 18258103 G A 15761 drug_response Slow_acetylator_due_to_N-acetyltransferase_enz... . 0.27727 0.26498 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5986 1550 8 19813529 A G 16589 Conflicting_interpretations_of_pathogenicity Hyperlipidemia,_familial_combined,_susceptibil... . 0.01336 0.00519 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5987 1559 8 19819439 A G 16598 association High_density_lipoprotein_cholesterol_level_qua... . . 0.34944 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5988 1534 8 19819724 C G 16573 Likely_benign LIPOPROTEIN_LIPASE_POLYMORPHISM|Hyperlipoprote... . 0.0935 0.09245 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5989 362430 8 19823648 A T 308459 Benign Hyperlipoproteinemia,_type_I . . 0.33746 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5990 362432 8 19823674 C T 313618 Likely_benign Hyperlipoproteinemia,_type_I . . 0.09125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5991 362440 8 19824045 C A 308491 Likely_benign Hyperlipoproteinemia,_type_I . . 0.09026 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5992 40131 8 19824492 T C 48634 Benign Hyperlipoproteinemia,_type_I|High_density_lipo... . . 0.33486 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5993 362448 8 19824563 T C 308525 Likely_benign Hyperlipoproteinemia,_type_I . . 0.1276 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5994 362450 8 19824626 C CTT 313721 Likely_benign Hyperlipoproteinemia,_type_I . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5995 362452 8 19824667 C T 313723 Benign Hyperlipoproteinemia,_type_I . . 0.33307 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5996 362455 8 21971961 T TA 313665 Benign Alopecia_universalis|Atrichia_with_papular_les... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5997 362466 8 21972973 G T 304810 Benign Alopecia_universalis|Atrichia_with_papular_les... . . 0.35663 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5998 362521 8 21984650 A G 304851 Benign Alopecia_universalis|Atrichia_with_papular_les... 0.6518 0.61231 0.57927 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
5999 362525 8 21984945 C T 313732 Benign Alopecia_universalis|Atrichia_with_papular_les... 0.28068 0.32049 0.29633 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6000 362542 8 21988515 A C 308587 Benign Alopecia_universalis|Atrichia_with_papular_les... . . 0.60823 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6001 362569 8 22021933 C T 313869 Benign/Likely_benign Idiopathic_fibrosing_alveolitis,_chronic_form|... . 0.20598 0.10443 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6002 362572 8 22022655 CGGAG C 313871 Uncertain_significance Osteogenesis_Imperfecta,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6003 362573 8 22022749 A G 313878 Benign Idiopathic_fibrosing_alveolitis,_chronic_form|... . . 0.74141 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6004 680492 8 22038144 G C 663373 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6005 674968 8 22053123 T C 663375 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6006 362592 8 22059363 G A 313894 Benign/Likely_benign not_specified|Osteogenesis_Imperfecta,_Recessive 0.07675 0.05025 0.05032 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6007 675091 8 22059520 A G 663378 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6008 680516 8 22059606 G A 663327 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6009 680493 8 22065179 A G 663330 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6010 674720 8 22066855 C T 663340 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6011 675150 8 22069018 C T 663381 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6012 362607 8 22069386 T C 308665 Likely_benign Osteogenesis_Imperfecta,_Recessive . . 0.13399 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6013 768230 8 22262228 AGCTGCT A 700522 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6014 720868 8 22428590 G A 723003 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6015 162169 8 23082971 G T 171882 not_provided not_provided . . 0.40076 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6016 362624 8 24809067 C T 304973 Benign Charcot-Marie-Tooth_disease,_type_I . . 0.71965 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6017 362632 8 24809636 C G 304991 Benign Charcot-Marie-Tooth_disease,_type_I . . 0.54273 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6018 362641 8 24810088 T A 305005 Benign Charcot-Marie-Tooth_disease,_type_I . . 0.72085 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6019 694999 8 24811064 AG A 683010 Uncertain_significance Charcot-Marie-Tooth_disease . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6020 670555 8 24814205 G T 662832 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6021 667514 8 24814403 T C 663383 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6022 362657 8 25281329 A G 308710 Uncertain_significance Isolated_GnRH_Deficiency . . 0.01997 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6023 362664 8 27317337 A G 308736 Benign Nocturnal_frontal_lobe_epilepsy . . 0.80571 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6024 362665 8 27317445 G T 308738 Benign Nocturnal_frontal_lobe_epilepsy . . 0.40515 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6025 362673 8 27317987 A G 313911 Benign Nocturnal_frontal_lobe_epilepsy . . 0.36542 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6026 362682 8 27318391 C T 313924 Benign Nocturnal_frontal_lobe_epilepsy . . 0.36142 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6027 362683 8 27318425 C A 313926 Benign Nocturnal_frontal_lobe_epilepsy . . 0.35903 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6028 362685 8 27318544 A G 313972 Benign Nocturnal_frontal_lobe_epilepsy . . 0.78674 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6029 362686 8 27318635 C G 313930 Benign Nocturnal_frontal_lobe_epilepsy . . 0.78195 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6030 670757 8 27321597 G C 662838 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6031 668090 8 27327841 C G 663394 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6032 679135 8 27328354 G C 663396 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6033 362716 8 27336767 A T 314020 Benign Nocturnal_frontal_lobe_epilepsy . . 0.10663 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6034 16603 8 27373865 G A 31642 risk_factor Familial_hypercholesterolemia_1 . 0.11532 0.12959 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6035 516218 8 27632143 C T 502718 Benign not_specified . . 0.46665 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6036 257053 8 27641609 G A 253100 Benign not_specified 0.97601 0.99332 0.97784 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6037 439766 8 30554006 G A 433599 Benign not_specified 0.40512 0.44941 0.42392 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6038 130763 8 30924557 C T 136209 Benign Werner_syndrome|not_specified|not_provided 0.6537 0.70318 0.6873 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6039 130757 8 30938704 G A 136203 Benign/Likely_benign Werner_syndrome|not_specified|not_provided 0.05751 0.07523 0.04692 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6040 256707 8 30958353 CT C 253104 Benign/Likely_benign Werner_syndrome|not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6041 130754 8 30999122 C T 136200 Benign Werner_syndrome|not_specified|not_provided 0.38659 0.47043 0.375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6042 130761 8 31024638 C T 136207 Benign/Likely_benign Werner_syndrome|not_specified|not_provided 0.2821 0.29891 0.27356 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6043 130762 8 31024654 T C 136208 Benign/Likely_benign Werner_syndrome|not_specified|not_provided 0.22736 0.24164 0.19269 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6044 732415 8 36780142 G A 736637 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6045 679568 8 37606963 C T 663338 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6046 362826 8 38000267 T C 314123 Benign Congenital_adrenal_hyperplasia . . 0.55052 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6047 448532 8 38003787 T C 441233 Benign not_specified 0.97647 0.97958 0.96566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6048 362920 8 38326161 G A 314238 Benign Craniosynostosis|Hypogonadism_with_anosmia|Pfe... . . 0.95687 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6049 259175 8 38884342 G GTTCT 253109 Benign not_specified|Cone-Rod_Dystrophy,_Recessive . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6050 362954 8 41511157 A C 309065 Likely_benign Spherocytosis,_Dominant . . 0.98602 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6051 261317 8 41519462 A G 253111 Benign/Likely_benign Spherocytosis_type_1|not_specified|Spherocytos... 0.74989 0.78047 0.78634 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6052 261316 8 41525914 C T 253112 Benign/Likely_benign Spherocytosis_type_1|not_specified|Spherocytos... 0.2312 0.21339 0.19469 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6053 261315 8 41529856 A G 253113 Benign Spherocytosis_type_1|not_specified 0.97232 . 0.97764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6054 261301 8 41553928 C G 253125 Benign/Likely_benign Spherocytosis_type_1|not_specified|Spherocytos... 0.36285 . 0.40715 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6055 261319 8 41583294 C T 253139 Benign/Likely_benign not_specified|Spherocytosis,_Dominant 0.10208 0.1382 0.10503 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6056 587815 8 41794934 C T 579425 Benign History_of_neurodevelopmental_disorder 0.30055 0.20521 0.20947 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6057 402969 8 42175303 A T 389785 Benign not_specified 0.75342 0.85321 0.69529 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6058 363099 8 42397004 C T 305384 Benign Idiopathic_basal_ganglia_calcification_1 . . 0.69369 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6059 363113 8 42692419 T C 309195 Likely_benign Dystonia . . 0.01857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6060 684160 8 43024625 T G 663400 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6061 684171 8 43046395 G A 663401 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6062 684173 8 43047156 G C 663358 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6063 96501 8 43047593 G A 102395 Benign Mucopolysaccharidosis,_MPS-III-C|not_specified... 0.24897 0.3072 0.22524 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6064 96503 8 43054553 T C 102397 Benign Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS... 0.99066 0.9974 0.99161 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6065 363174 8 43056513 T C 305420 Benign Sanfilippo_syndrome . . 0.82189 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6066 379395 8 48846519 T C 371924 Benign not_specified 0.96227 0.95985 0.98363 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6067 363238 8 48885436 T A 314652 Benign Natural_killer_cell_and_glucocorticoid_deficie... 0.87298 0.86686 0.91414 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6068 403354 8 52284654 C CAA,CA 390587 Benign not_specified . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
6069 403355 8 52321238 G A 389834 Benign not_specified 0.01089 0.01128 0.00579 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6070 403356 8 52321243 T C 389843 Benign not_specified 0.80876 . 0.83187 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6071 403357 8 52366200 G A 389863 Benign not_specified 0.82539 0.87448 0.74601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6072 5969 8 55539395 A T 21008 Benign/Likely_benign Hypertriglyceridemia,_susceptibility_to|not_sp... . 0.34751 0.25 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6073 95357 8 55542540 G A 101256 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Dominant 0.31475 . 0.21566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6074 363327 8 57870847 T C 309408 Benign Chondrodysplasia . . 0.88239 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6075 363378 8 57874701 C T 309475 Uncertain_significance Chondrodysplasia . . 0.00379 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6076 128540 8 61178574 T C 133989 Benign History_of_neurodevelopmental_disorder|not_spe... 0.52822 0.42793 0.501 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6077 158324 8 61655690 G A 168596 Benign not_specified 0.76248 0.81191 0.82708 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6078 2030 8 61690321 A G 17069 Uncertain_significance Scoliosis,_idiopathic_3 . . 0.86062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6079 676809 8 61693412 C A 663362 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6080 158325 8 61707725 G A 168598 Benign not_specified 0.82261 0.83159 0.89697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6081 260894 8 61713126 A ATGGACT 253153 Likely_benign not_specified 0.74629 0.79536 0.82867 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6082 676842 8 61713231 C A 663354 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6083 673326 8 61729273 T G 662852 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6084 158326 8 61732521 A G 168600 Benign not_specified 0.7799 0.82588 0.85284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6085 676810 8 61748415 G A 662859 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6086 673327 8 61750002 A G 662860 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6087 158327 8 61750860 A G 168612 Benign not_specified 0.76628 0.81372 0.83906 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6088 667608 8 61758254 G A 663355 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6089 676811 8 61764076 A G 662865 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6090 676812 8 61764389 G T 663411 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6091 667609 8 61767390 G C 663419 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6092 676813 8 61773285 C T 663422 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6093 363501 8 61779681 A C 305684 Benign Hypogonadism_with_anosmia|CHARGE_association . . 0.5004 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6094 363502 8 61779936 T G 315016 Benign Hypogonadism_with_anosmia|CHARGE_association . . 0.49581 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6095 363511 8 61780220 T C 305698 Benign Hypogonadism_with_anosmia|CHARGE_association . . 0.73762 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6096 363513 8 61780289 C T 309718 Benign Hypogonadism_with_anosmia|CHARGE_association . . 0.49621 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6097 92872 8 63978658 TA T 98779 Benign Ataxia_with_vitamin_E_deficiency|not_specified... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6098 379640 8 67976750 C G 371950 Benign not_specified 0.02952 0.02929 0.01418 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6099 363596 8 68334411 T C 309773 Likely_benign Familial_temporal_lobe_epilepsy_2 . . 0.01338 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6100 128847 8 68396915 T C 134295 Benign/Likely_benign Familial_temporal_lobe_epilepsy_2|not_specifie... 0.1241 0.11235 0.07907 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6101 128846 8 68421768 G C 134294 Benign/Likely_benign Familial_temporal_lobe_epilepsy_2|not_specified 0.05971 0.09439 0.08906 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6102 128845 8 68536470 A G 134293 Benign/Likely_benign Familial_temporal_lobe_epilepsy_2|not_specifie... 0.26404 0.23596 0.23223 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6103 369613 8 68658633 C T 353842 Likely_benign Familial_temporal_lobe_epilepsy_2 . . 0.60463 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6104 225954 8 69389217 C G 227767 drug_response irinotecan_response_-_Toxicity/ADR . . 0.68351 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6105 363624 8 72109994 C T 315067 Benign Otofaciocervical_syndrome_1|Branchiootorenal_S... . . 0.98782 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6106 363687 8 74888494 C T 315216 Benign Mitochondrial_Complex_V_(ATP_Synthase)_Deficie... 0.24446 0.35452 0.21665 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6107 675845 8 74890798 A G 662875 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6108 203986 8 74893628 T G 200170 Conflicting_interpretations_of_pathogenicity Mitochondrial_Complex_V_(ATP_Synthase)_Deficie... . 0.00011 . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6109 363693 8 74893880 C T 315225 Benign Mitochondrial_Complex_V_(ATP_Synthase)_Deficie... 0.46509 0.49457 0.47504 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6110 363712 8 74894748 A G 315245 Benign Mitochondrial_Complex_V_(ATP_Synthase)_Deficie... . . 0.21625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6111 681267 8 75262536 G T 663492 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6112 695131 8 75262798 G C 684027 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6113 670530 8 75262841 G A 663407 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6114 681269 8 75263943 CTT C 662880 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6115 681275 8 75272727 C A 662881 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6116 681276 8 75273933 A G 663412 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6117 261065 8 75274141 T G 253176 Benign Charcot-Marie-Tooth_disease_type_2K|Charcot-Ma... 0.25373 0.2774 0.21925 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6118 681294 8 75274331 CAT C 663509 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6119 670531 8 75275312 C T 662885 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6120 363721 8 75276959 A G 315149 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch... . 0.23342 0.23343 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6121 363727 8 75277399 A G 315268 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch... . 0.98757 0.98982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6122 363728 8 75277432 C G 315275 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch... . 0.23337 0.23343 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6123 363752 8 75278457 A G 315173 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch... . 0.24126 0.26677 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6124 363753 8 75278480 G T 305869 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch... . 0.22755 0.23363 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6125 363758 8 75278816 A G 315188 Benign Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch... . 0.23293 0.22943 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6126 363772 8 77892834 A T 305894 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.51797 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6127 363777 8 77893120 T C 305899 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.95427 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6128 363798 8 77894303 T C 315255 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.98582 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6129 363804 8 77894770 A G 305926 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.95427 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6130 167455 8 77895865 A G 177936 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.98916 0.98778 0.99621 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6131 369615 8 86376130 A T 353844 Benign Osteopetrosis_with_renal_tubular_acidosis . . 0.9988 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6132 254787 8 86389403 T C 253178 Benign Osteopetrosis_with_renal_tubular_acidosis|not_... 0.64309 0.5893 0.57768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6133 369616 8 87586151 A G 353845 Benign Achromatopsia|Stargardt_Disease,_Recessive . . 0.85623 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6134 363844 8 87586393 G T 305952 Benign Achromatopsia|Stargardt_Disease,_Recessive . . 0.53674 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6135 291003 8 87638279 T C 275240 Conflicting_interpretations_of_pathogenicity not_provided 0.00046 0.00051 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6136 95929 8 87666251 T G 101825 Benign Achromatopsia|Achromatopsia_3|not_specified|St... 0.64059 . 0.67971 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6137 261090 8 87679303 A C 253186 Benign Achromatopsia|Achromatopsia_3|not_specified|St... 0.8786 0.89461 0.95747 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6138 363882 8 87680406 G GA 305979 Benign/Likely_benign Achromatopsia|Stargardt_Disease,_Recessive|not... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6139 363896 8 90946056 A G 310029 Benign Microcephaly,_normal_intelligence_and_immunode... . . 0.33546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6140 363898 8 90946601 T G 310032 Benign Microcephaly,_normal_intelligence_and_immunode... . . 0.33526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6141 363905 8 90947269 C G 315495 Benign Microcephaly,_normal_intelligence_and_immunode... . . 0.33027 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6142 363909 8 90947537 C T 315368 Benign Microcephaly,_normal_intelligence_and_immunode... . . 0.32188 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6143 258769 8 90955624 T A 253191 Benign not_specified 0.31393 0.35346 0.37919 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6144 183696 8 90958422 T C 182835 Benign Hereditary_cancer-predisposing_syndrome|Microc... 0.28419 0.34505 0.35284 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6145 258768 8 90958530 T C 253192 Benign Hereditary_cancer-predisposing_syndrome|Microc... 0.31313 0.35294 0.37899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6146 183701 8 90967711 A G 182857 Benign Hereditary_cancer-predisposing_syndrome|Microc... 0.49031 0.46759 0.60863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6147 199080 8 90970935 G A 196239 Benign Hereditary_cancer-predisposing_syndrome|not_sp... 0.28448 0.34459 0.35304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6148 134876 8 90990479 C G 138615 Benign Hereditary_cancer-predisposing_syndrome|Microc... 0.28656 0.34527 0.35703 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6149 183697 8 90995019 C T 182905 Benign Hereditary_cancer-predisposing_syndrome|Microc... 0.31316 0.35272 0.37919 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6150 126307 8 94792887 G A 131839 Benign not_specified|not_provided 0.01061 0.01451 0.01038 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6151 96528 8 94794620 C T 102422 Benign Nephronophthisis|Joubert_syndrome|Meckel-Grube... 0.63865 0.63405 0.71506 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6152 126301 8 94808165 A G 131833 Benign Nephronophthisis|Joubert_syndrome|Meckel-Grube... 0.64042 0.63694 0.69289 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6153 369617 8 94929079 T A 353846 Benign Pyruvate_dehydrogenase_phosphatase_deficiency . . 0.49661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6154 363945 8 94935937 T C 315572 Benign Pyruvate_dehydrogenase_phosphatase_deficiency 0.40485 0.46757 0.49521 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6155 363952 8 94936532 G C 306040 Benign Pyruvate_dehydrogenase_phosphatase_deficiency . . 0.59385 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6156 681229 8 96044042 T C 662926 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6157 676241 8 96044076 G A 663529 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6158 681230 8 96046951 A G 663455 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6159 671643 8 96047470 CTT C 663427 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6160 559318 8 96047806 T TAA,TA 549952 Benign not_provided . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
6161 681196 8 96058218 G A 662929 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6162 256850 8 97157792 G C 253216 Benign not_specified 0.03232 . 0.03774 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6163 681299 8 97172403 A G 663547 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6164 684319 8 97247469 A G 663434 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6165 262657 8 100133706 T G 253219 Benign Cohen_syndrome|not_specified 0.75565 0.75035 0.70507 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6166 262652 8 100861146 G A 253228 Benign Cohen_syndrome|not_specified 0.24858 0.17766 0.22364 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6167 95821 8 100865836 G A 101718 Benign/Likely_benign Cohen_syndrome|History_of_neurodevelopmental_d... 0.11964 . 0.11102 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6168 361101 8 100888141 C CCAA 315548 Likely_benign Cohen_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6169 361106 8 100888322 CTAT C 315735 Benign Cohen_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6170 361107 8 100888489 C CTT 310296 Likely_benign Cohen_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6171 361108 8 100888592 CTGA C 310304 Benign Cohen_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6172 361123 8 100889677 C T 306190 Benign Cohen_syndrome . . 0.20567 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6173 262804 8 101203737 T C 252991 Benign not_specified 0.158 0.19792 0.15056 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6174 262805 8 101206391 G A 252992 Benign not_specified 0.15785 0.19858 0.15056 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6175 221008 8 101206459 A AGAC 221749 Benign Ciliary_dyskinesia,_primary,_28|not_specified 0.15681 0.19907 0.15036 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6176 410995 8 101251617 A T 396533 Likely_benign not_provided 0.00131 0.00105 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6177 262802 8 101252680 T C 252995 Benign not_specified 0.63755 0.61791 0.6274 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6178 508097 8 102504974 C G 501889 Benign CORNEAL_DYSTROPHY,_POSTERIOR_POLYMORPHOUS,_4|n... 0.99854 0.97426 0.96126 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6179 768252 8 103573001 C G 700327 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6180 100143 8 105459793 C A 106020 not_provided not_provided . . 0.59784 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6181 100144 8 105463690 A G 106021 not_provided not_provided . . 0.3764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6182 260177 8 106573578 C T 252998 Benign not_specified 0.68269 . 0.72025 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6183 361519 8 116421434 G C 312576 Benign Trichorhinophalangeal_Syndrome . . 1 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6184 361537 8 116421936 A C 307528 Benign Trichorhinophalangeal_Syndrome . . 0.61302 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6185 361560 8 116423424 T C 312625 Benign Trichorhinophalangeal_Syndrome . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6186 361561 8 116423490 A T 312569 Benign Trichorhinophalangeal_Syndrome . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6187 361582 8 116424270 A AC 307545 Benign Trichorhinophalangeal_Syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6188 361601 8 116425860 A G 312701 Benign Trichorhinophalangeal_Syndrome . . 0.54553 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6189 260331 8 116599199 T G 253013 Benign not_specified 0.6704 . 0.77137 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6190 260329 8 116635872 T TA 253016 Benign Trichorhinophalangeal_Syndrome|Trichorhinophal... 0.29944 0.37519 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6191 361634 8 116635942 C T 304025 Benign Trichorhinophalangeal_Syndrome . . 0.6867 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6192 361641 8 116680944 AAGAGAG A 312678 Uncertain_significance Trichorhinophalangeal_Syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6193 669108 8 117860152 T C 663116 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6194 669106 8 117861516 T C 663124 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6195 159805 8 117864217 A G 168582 Benign History_of_neurodevelopmental_disorder|not_spe... 0.1241 0.17277 0.13319 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6196 159809 8 117866718 A G 168583 Benign/Likely_benign not_specified 0.00492 0.00393 0.0004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6197 668613 8 117870375 A G 663141 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6198 1000 8 118184783 C T 16039 risk_factor DIABETES_MELLITUS,_TYPE_2,_SUSCEPTIBILITY_TO . 0.28489 0.25519 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6199 255175 8 118819578 C T 253019 Benign not_specified|Hereditary_Multiple_Osteochondro... 0.35107 0.39736 0.33846 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6200 255172 8 118832020 G A 253022 Benign not_specified|Hereditary_Multiple_Osteochondro... 0.16431 0.1746 0.12021 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6201 196215 8 118847782 G A 193376 Benign Multiple_congenital_exostosis|not_specified|He... 0.24604 0.25958 0.17392 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6202 196349 8 119941173 A G 193510 Benign Hyperphosphatasemia_with_bone_disease|not_spec... 0.93665 0.93393 0.92372 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6203 258775 8 119964052 G C 253030 Benign Hyperphosphatasemia_with_bone_disease|not_spec... 0.58892 0.60241 0.66673 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6204 361702 8 119964283 G A 307683 Benign Hyperphosphatasemia_with_bone_disease . . 0.6216 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6205 802438 8 125570144 G A 790778 Benign MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6206 802439 8 125579990 C T 790779 Benign MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6207 683815 8 126040573 C T 663207 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6208 683812 8 126049191 A G 663162 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6209 682822 8 126050879 C T 663167 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6210 671065 8 126052488 T C 663125 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6211 516650 8 126056215 G GC 502579 Benign not_specified 0.99984 0.99997 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6212 669898 8 126061712 C T 663170 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6213 670723 8 126068197 T C 663216 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6214 682819 8 126079772 A T 663133 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6215 380826 8 126085586 G A 370065 Benign not_specified 0.16277 0.23301 0.22544 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6216 669859 8 126096595 T C 663135 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6217 361745 8 133133361 C T 312763 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13518 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6218 361757 8 133134288 G A 312809 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13518 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6219 361759 8 133134366 T C 307788 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13518 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6220 361761 8 133134390 G A 312820 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13518 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6221 361763 8 133134434 T C 304178 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13478 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6222 361764 8 133134476 A G 312821 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13478 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6223 361766 8 133134553 T C 304180 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13598 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6224 361767 8 133134635 G C 307793 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13478 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6225 361776 8 133135169 C T 312838 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13918 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6226 361784 8 133135577 T G 307838 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.13518 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6227 361799 8 133136551 T C 312891 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.72284 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6228 361802 8 133136762 C CCTGT 304197 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6229 361809 8 133137266 T A 307864 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.28634 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6230 361814 8 133137532 C T 312923 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.3109 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6231 361823 8 133137912 C T 312925 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.72085 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6232 361833 8 133138474 T C 304229 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.14317 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6233 361834 8 133138477 T C 312958 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.29313 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6234 361846 8 133139755 G A 312980 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.26857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6235 670591 8 133142310 G C 663175 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6236 674991 8 133142353 G A 663144 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6237 670883 8 133150103 C T 663183 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6238 683736 8 133175446 A G 663160 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6239 674897 8 133459549 A G 663187 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6240 361897 8 133492921 C A 313040 Benign Benign_Neonatal_Epilepsy|Benign_familial_neona... . . 0.22744 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6241 683733 8 133493283 T C 663202 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6242 683731 8 133493335 A C 663208 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6243 260278 8 133637659 G A 253039 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.5582 0.41905 0.48622 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6244 29906 8 133877623 A G 38861 risk_factor Autoimmune_thyroid_disease_3 . . 0.59245 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6245 12697 8 133900252 T G 27736 Benign/Likely_benign Thyroid_dyshormonogenesis|Autoimmune_thyroid_d... . . 0.67632 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6246 258989 8 133900386 T C 253046 Benign/Likely_benign Thyroid_dyshormonogenesis|not_specified 0.5865 0.58294 0.67272 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6247 12698 8 133909974 A G 27737 Benign/Likely_benign Thyroid_dyshormonogenesis|Autoimmune_thyroid_d... . 0.58417 0.67492 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6248 258992 8 133920411 T C 253049 Benign not_specified 0.46148 0.57061 0.39776 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6249 258993 8 133920518 A G 253050 Benign/Likely_benign Thyroid_dyshormonogenesis|not_specified 0.46163 0.56972 0.39876 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6250 258994 8 133931748 T C 253051 Benign/Likely_benign Thyroid_dyshormonogenesis|not_specified 0.53991 0.59147 0.47384 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6251 258996 8 133975283 G A 253052 Benign/Likely_benign Thyroid_dyshormonogenesis|not_specified 0.3789 0.4846 0.34685 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6252 12696 8 133984058 C T 27735 Benign/Likely_benign Thyroid_dyshormonogenesis|Autoimmune_thyroid_d... . 0.32262 0.33247 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6253 259000 8 134108453 C T 253056 Benign/Likely_benign Thyroid_dyshormonogenesis|not_specified 0.37883 0.43471 0.34465 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6254 259001 8 134108546 T C 253057 Benign Thyroid_dyshormonogenesis|not_specified 0.61472 0.50237 0.52236 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6255 259002 8 134125682 G A 253058 Benign Thyroid_dyshormonogenesis|not_specified 0.5742 0.49759 0.53734 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6256 362015 8 134250165 A G 313152 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.83027 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6257 667647 8 134254051 A G 662665 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6258 673430 8 134256315 C T 663201 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6259 667649 8 134258711 A G 663210 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6260 138433 8 134260948 A G 142136 Benign Charcot-Marie-Tooth_disease_type_4|not_specifi... 0.04767 0.09043 0.09265 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6261 667644 8 134262532 T C 663213 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6262 667641 8 134274226 C G 663290 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6263 667640 8 134292288 T C 662705 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6264 259916 8 134292516 A G 253060 Benign Charcot-Marie-Tooth_disease,_type_4D|Charcot-M... 0.66785 0.56349 0.61342 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6265 369595 8 140624798 A AG 353824 Benign Birk-Barel_Intellectual_Disability_Dysmorphism... . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6266 362074 8 141034189 A T 308163 Benign Intellectual_Disability,_Recessive 0.57158 0.63085 0.53834 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6267 130626 8 141262869 C T 136072 Benign not_specified|Intellectual_Disability,_Recessive 0.09972 0.12324 0.07169 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6268 130625 8 141263015 G A 136071 Benign History_of_neurodevelopmental_disorder|not_spe... 0.09972 0.12368 0.07129 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6269 768267 8 141561393 G C 777712 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6270 691405 8 142170884 C T 679171 Uncertain_significance Hirschsprung_disease . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6271 691482 8 142200467 G A 679172 Uncertain_significance Hirschsprung_disease . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6272 362189 8 143993157 A G 304553 Benign Hyperaldosteronism,_familial,_type_I|Corticost... . . 0.999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6273 362191 8 143993315 C T 304554 Benign Hyperaldosteronism,_familial,_type_I|Corticost... . . 0.13219 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6274 362207 8 143995761 C T 308315 Benign Hyperaldosteronism,_familial,_type_I|Corticost... 0.96932 0.90939 0.82348 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6275 263135 8 144808747 G A 253062 Benign Amelogenesis_imperfecta,_hypocalcification_typ... 0.6482 0.68153 0.52915 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6276 263133 8 144809804 G A 253064 Benign Amelogenesis_imperfecta,_hypocalcification_typ... 0.86583 0.94992 0.82328 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6277 263132 8 144810138 G A 253065 Benign not_specified 0.0809 0.27669 0.16594 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6278 93012 8 144990335 G A 98919 Benign not_specified . 0.43074 0.23822 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6279 93033 8 144990528 A G 98940 Benign not_specified 0.54066 0.41913 0.47704 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6280 93030 8 144991176 T C 98937 Benign not_specified 0.56554 0.41899 0.47844 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6281 93025 8 144992103 T C 98932 Benign not_specified|not_provided 0.5882 0.43432 0.49042 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6282 93023 8 144992361 T C 98930 Benign not_specified 0.56838 0.42749 0.47824 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6283 93022 8 144992862 A G 98929 Benign not_specified 0.53453 . 0.44609 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6284 93020 8 144993324 C T 98927 Benign not_specified 0.30209 0.3451 0.23403 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6285 93018 8 144993377 A G 98925 Benign not_specified|not_provided 0.56213 . 0.47185 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6286 93089 8 144994888 G A 98996 Benign/Likely_benign not_specified 0.05337 0.05685 0.02756 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6287 93087 8 144995494 C T 98994 Benign not_specified 0.30797 0.34437 0.23063 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6288 93084 8 144995736 G A 98991 Benign not_specified 0.30211 0.34463 0.23023 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6289 93083 8 144996029 A G 98990 Benign not_specified 0.56316 0.40851 0.46665 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6290 93078 8 144996408 T G 98985 Benign not_specified 0.29504 0.4297 0.23103 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6291 256178 8 144996598 G A 253068 Benign not_specified|not_provided 0.29795 0.34478 0.23063 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6292 256177 8 144996635 G A 253069 Benign not_specified|not_provided 0.29427 0.34321 0.23063 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6293 93073 8 144997656 C T 98980 Benign not_specified 0.28868 0.35355 0.23023 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6294 93071 8 144997927 G A 98978 Benign not_specified|not_provided 0.26171 0.46515 0.23063 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6295 93068 8 144998169 C T 98975 Benign not_specified 0.26992 0.36315 0.23083 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6296 93067 8 144998190 A G 98974 Benign not_specified 0.27612 0.36158 0.23083 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6297 93056 8 144999417 C T 98963 Benign not_specified 0.26815 0.37586 0.23083 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6298 93052 8 144999621 C T 98959 Benign not_specified|not_provided 0.27147 0.3295 0.22484 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6299 93051 8 144999642 A C 98958 Benign not_specified 0.27987 . 0.23263 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6300 93050 8 144999684 A G 98957 Benign not_specified 0.24051 0.33565 0.23263 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6301 93049 8 145000056 T C 98956 Benign not_specified 0.22096 0.39123 0.23103 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6302 667911 8 145000221 G A 663307 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6303 683693 8 145000321 C T 663236 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6304 667909 8 145000740 G A 663240 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6305 667891 8 145000809 G A 663226 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6306 667889 8 145000898 A G 663314 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6307 129947 8 145001031 T C 135393 Benign not_specified 0.56159 0.41277 0.46665 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6308 667887 8 145001300 T A 663229 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6309 667885 8 145001311 T C 663235 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6310 256175 8 145001372 T C 253071 Benign not_specified|not_provided 0.30769 0.3438 0.23103 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6311 93047 8 145001509 T C 98954 Benign not_specified 0.30218 0.34372 0.23083 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6312 93046 8 145001588 C T 98953 Benign not_specified 0.30752 0.34895 0.23083 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6313 93044 8 145001784 A G 98951 Benign not_specified 0.26498 0.36871 0.23083 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6314 667881 8 145002283 A G 662711 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6315 683692 8 145002431 C G 663245 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6316 256173 8 145003777 G A 253073 Benign not_specified|not_provided 0.2942 0.33543 0.22524 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6317 195654 8 145004474 G A 192815 Conflicting_interpretations_of_pathogenicity not_specified|not_provided 0.00181 0.00151 0.0006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6318 129938 8 145004546 G A 135384 Benign not_specified 0.69877 0.74106 0.57189 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6319 667921 8 145004944 T C 662716 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6320 683690 8 145005450 T C 663257 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6321 93038 8 145005688 A AC 98945 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6322 93035 8 145006790 T C 98942 Benign not_specified 0.38148 0.35985 0.32748 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6323 129934 8 145007187 G A 135380 Benign not_specified 0.28956 0.36687 0.23143 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6324 227018 8 145007534 C T 231312 Benign not_specified 0.46712 0.38044 0.39836 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6325 667918 8 145007947 G A 662720 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6326 667917 8 145007989 A G 663316 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6327 667915 8 145008342 C A 663248 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6328 256170 8 145008443 A T 253075 Benign not_specified|not_provided 0.29567 0.3301 0.23203 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6329 129928 8 145008560 A G 135374 Benign not_specified 0.29247 0.33022 0.23143 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6330 667912 8 145008706 C T 662733 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6331 256168 8 145008931 G C 253076 Benign not_specified|not_provided 0.46196 . 0.39337 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6332 667892 8 145009593 A C 663266 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6333 667890 8 145009610 A G 663250 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6334 667888 8 145010305 A G 663258 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6335 129949 8 145011204 A G 135395 Benign not_specified|not_provided 0.29234 . 0.23243 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6336 667886 8 145012206 G A 663269 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6337 667884 8 145012466 A G 662737 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6338 256171 8 145012777 C G 253077 Benign not_specified|not_provided 0.29434 . 0.23043 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6339 667880 8 145013315 G T 663274 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6340 667877 8 145013345 C T 663318 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6341 667860 8 145013893 C G 663283 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6342 683688 8 145013949 C T 663268 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6343 683686 8 145013987 C CAG 663323 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6344 379959 8 145150101 T G 370173 Benign not_specified|not_provided . 0.87931 0.88958 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6345 403433 8 145158446 C T 389762 Benign not_specified 0.91789 0.94626 0.88459 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6346 403434 8 145158503 G T 389779 Benign not_specified 0.9149 0.94716 0.88478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6347 403435 8 145160646 T C 389855 Benign not_specified 0.94856 0.98487 0.95328 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6348 402587 8 145541766 G T 390517 Benign not_specified 0.07232 0.06813 0.03594 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6349 402588 8 145542021 G A 390518 Benign not_specified 0.05371 0.04958 0.02336 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6350 380872 8 145582839 T C 371714 Benign not_specified . . 0.45727 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6351 403459 8 145640411 A G 390475 Benign not_specified 0.96655 0.96782 0.98463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6352 259199 8 145699601 T C 253080 Benign Holoprosencephaly_sequence|not_specified 0.99578 0.97085 0.94569 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6353 94894 8 145737286 G A 100794 Benign not_specified 0.34997 0.46696 0.40056 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6354 94893 8 145737514 G A 100793 Benign not_specified 0.39325 0.50634 0.43331 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6355 167573 8 145737636 A G 178005 Benign not_specified 0.99841 0.97283 0.94609 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6356 94891 8 145737816 C T 100791 Benign not_specified|not_provided 0.34191 0.4612 0.38439 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6357 94890 8 145738349 G T 100790 Benign Baller-Gerold_syndrome|not_specified 0.00644 0.01114 0.00539 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6358 94886 8 145739924 G A 100786 Benign not_specified 0.35052 0.48016 0.39457 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6359 94884 8 145741130 C T 100784 Benign not_specified 0.36496 0.47156 0.40096 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6360 94898 8 145741702 C G 100798 Benign not_specified|not_provided 0.39187 0.43771 0.44768 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6361 94897 8 145741765 G A 100797 Benign not_specified|not_provided 0.33916 0.43943 0.37001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6362 135161 8 145742514 A G 138900 Benign not_specified 0.99517 0.97332 0.94329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6363 94885 8 145742879 T C 100785 Benign not_specified|not_provided 0.55069 0.55522 0.57508 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6364 403369 8 145745182 T C 389833 Benign not_specified 0.999 0.97398 0.94768 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6365 673270 9 215057 T C 664229 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6366 676901 9 215269 A C 663725 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6367 673882 9 271455 T C 663757 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6368 137155 9 271638 C T 140858 Benign Hyperimmunoglobulin_E_recurrent_infection_synd... 0.31888 0.32449 0.30771 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6369 178766 9 286593 C A 175103 Benign Hyperimmunoglobulin_E_recurrent_infection_synd... 0.46425 0.52063 0.52975 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6370 673271 9 316998 C T 663777 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6371 676843 9 317370 G C 664271 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6372 667665 9 325993 G A 664316 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6373 263271 9 328006 T C 253508 Benign not_specified 0.66838 . 0.69589 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6374 163174 9 334337 A G 174691 Benign not_specified|Hyper-IgE_syndrome 0.28202 0.24879 0.19968 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6375 669669 9 337045 G C 664571 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6376 676844 9 367887 A T 664347 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6377 137137 9 370244 A G 140840 Benign not_specified|Hyper-IgE_syndrome 0.25181 0.22256 0.21586 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6378 673273 9 370370 G C 663824 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6379 676820 9 370439 G A 663828 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6380 676845 9 370531 A G 664353 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6381 674865 9 376122 C T 664386 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6382 673274 9 376179 T A 664377 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6383 676821 9 376538 G T 664379 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6384 137139 9 377111 G C 140842 Benign not_specified|Hyper-IgE_syndrome 0.26657 0.23316 0.22863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6385 675026 9 380035 G T 664646 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6386 676846 9 382294 T C 664652 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6387 676836 9 382390 T C 664400 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6388 676851 9 386094 T G 663847 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6389 673290 9 386559 A C 664407 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6390 137141 9 390512 C T 140844 Benign not_specified|Hyper-IgE_syndrome 0.28502 0.23444 0.25499 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6391 673291 9 390636 A G 663849 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6392 673883 9 396712 T A 664665 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6393 673884 9 397050 A T 663861 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6394 667666 9 398865 A G 664410 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6395 366969 9 399245 C A 319385 Conflicting_interpretations_of_pathogenicity Hyper-IgE_syndrome|not_provided 0.00031 0.00072 0.0004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6396 178769 9 421032 C G 175111 Benign Hyperimmunoglobulin_E_recurrent_infection_synd... 0.46263 . 0.39177 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6397 178770 9 429719 T C 174698 Benign not_specified 0.99677 0.99783 0.9994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6398 667667 9 430114 C G 664678 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6399 667680 9 431848 A G 663875 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6400 667681 9 431860 T C 663876 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6401 163176 9 432330 C G 174825 Benign not_specified|Hyper-IgE_syndrome 0.66923 0.75771 0.71426 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6402 667682 9 432625 A G 664429 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6403 667683 9 432628 G T 664421 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6404 163177 9 433978 A G 174549 Benign not_specified|Hyper-IgE_syndrome 0.67492 0.75878 0.72105 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6405 178771 9 441952 G A 174550 Benign Hyperimmunoglobulin_E_recurrent_infection_synd... 0.74289 0.82006 0.80391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6406 667684 9 442272 G C 663878 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6407 263270 9 446352 G C 253561 Benign not_specified 0.55828 . 0.63299 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6408 367102 9 464920 G A 308579 Benign Hyper-IgE_syndrome . . 0.85603 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6409 717026 9 744505 G A 723621 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6410 802456 9 2170512 G C 790886 Benign Nicolaides-Baraitser_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6411 366341 9 2193437 T C 318557 Likely_benign Nicolaides-Baraitser_syndrome . . 0.01877 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6412 366342 9 2193455 A G 317990 Likely_benign Nicolaides-Baraitser_syndrome . . 0.01098 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6413 667580 9 2621482 C G 664235 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6414 366352 9 2622121 A G 318001 Benign Congenital_cerebellar_hypoplasia|not_provided . . 0.8123 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6415 366354 9 2622134 C T 318566 Benign Congenital_cerebellar_hypoplasia . . 0.3099 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6416 290493 9 2622146 ACGGCGGCGG A 274730 Conflicting_interpretations_of_pathogenicity Congenital_cerebellar_hypoplasia|not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6417 130713 9 2622278 G A 136159 Benign Congenital_cerebellar_hypoplasia|not_specified . 0.32138 0.29493 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6418 667581 9 2622547 C T 664287 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6419 667582 9 2622554 T C 664526 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6420 667583 9 2635116 G C 664531 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6421 130701 9 2644954 C T 136147 Likely_benign Congenital_cerebellar_hypoplasia|not_specified 0.15378 . 0.08167 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6422 674397 9 2645109 G A 664300 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6423 674398 9 2645773 T G 664545 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6424 670831 9 2647760 A G 664240 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6425 130707 9 2648773 A G 136153 Likely_benign Congenital_cerebellar_hypoplasia|not_specified 0.14009 0.145 0.07388 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6426 670832 9 2650264 T G 663741 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6427 672298 9 2651340 A G 663743 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6428 130709 9 2651962 G T 136155 Benign Congenital_cerebellar_hypoplasia|not_specified 0.25527 0.18801 0.17173 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6429 672299 9 2652589 C T 664248 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6430 366383 9 2654419 T C 307997 Likely_benign Congenital_cerebellar_hypoplasia . . 0.09585 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6431 366402 9 2717676 T G 318131 Benign Cone_dystrophy_3 . . 0.19728 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6432 366403 9 2717698 C G 312358 Benign Cone_dystrophy_3 0.58973 0.61265 0.67193 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6433 96357 9 2717922 C G 102251 Benign Cone_dystrophy_3|not_specified 0.58796 0.61159 0.66034 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6434 96362 9 2718534 C G 102256 Benign Cone_dystrophy_3|not_specified 0.43562 0.48958 0.48003 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6435 366482 9 2729989 T A 318746 Likely_benign Cone_dystrophy_3 . . 0.05771 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6436 366891 9 3824934 AAT A,AA 319285 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... . . . 1|2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
6437 366897 9 3825015 T C 308373 Uncertain_significance Diabetes_mellitus,_neonatal,_with_congenital_h... . . 0.00639 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6438 366912 9 3825540 C T 318680 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... . . 0.79313 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6439 366916 9 3825812 G A 308391 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... . . 0.95308 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6440 366929 9 3826471 T TG 318714 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... . . 0.96765 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6441 366935 9 3826710 T G 318738 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... . . 0.34365 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6442 366938 9 3827075 C G 318750 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... . . 0.38658 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6443 366946 9 3827607 A AT 319366 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6444 129160 9 4118111 G T 134606 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... 0.66927 0.67299 0.67612 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6445 129159 9 4118208 A G 134605 Benign Diabetes_mellitus,_neonatal,_with_congenital_h... 0.99872 0.99973 0.999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6446 367039 9 4544640 T C 308515 Conflicting_interpretations_of_pathogenicity Dicarboxylic_aminoaciduria|not_provided 0.00777 0.00667 0.00339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6447 367042 9 4564432 G A 319503 Benign Dicarboxylic_aminoaciduria 0.35637 0.39707 0.32828 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6448 367084 9 4586808 G C 308540 Benign Dicarboxylic_aminoaciduria . . 0.22804 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6449 367114 9 4985542 T C 318934 Benign Budd-Chiari_syndrome . . 0.29074 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6450 367122 9 5050706 C T 318940 Benign Budd-Chiari_syndrome|not_specified 0.35645 0.32569 0.35823 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6451 367129 9 5081780 G A 319566 Benign Budd-Chiari_syndrome|not_specified 0.62425 0.53275 0.61681 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6452 367149 9 5127974 A ACAT 308609 Likely_benign Budd-Chiari_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6453 773508 9 5812883 A G 777823 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6454 255454 9 6553514 A AT 253564 Benign/Likely_benign Non-ketotic_hyperglycinemia|not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6455 255459 9 6610326 C T 253566 Benign Non-ketotic_hyperglycinemia|not_specified|not_... 0.2362 0.24241 0.19209 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6456 783027 9 8404607 G A 712042 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6457 256642 9 12704725 C T 253304 Benign not_specified 0.44118 . 0.22085 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6458 256643 9 12708958 T TA 253305 Benign not_specified 0.51998 . 0.25978 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6459 364861 9 12709305 C A 316831 Benign Oculocutaneous_albinism . . 0.252 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6460 364863 9 12709474 ATAAG A 310952 Benign Oculocutaneous_albinism . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6461 364865 9 12709586 A T 310966 Benign Oculocutaneous_albinism . . 0.24101 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6462 364867 9 12709648 AAATT A 316559 Benign Oculocutaneous_albinism . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6463 364872 9 12710035 A C 316849 Benign Oculocutaneous_albinism . . 0.26158 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6464 364873 9 12710090 T C 316569 Benign Oculocutaneous_albinism . . 0.27256 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6465 211516 9 13125201 T C 207631 Benign not_specified 0.61575 0.66471 0.55691 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6466 366056 9 14735053 T C 312029 Benign Marles_Greenberg_Persaud_syndrome . . 0.4357 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6467 366057 9 14735064 G C 312034 Benign Marles_Greenberg_Persaud_syndrome . . 0.55631 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6468 366059 9 14735074 T G 318188 Benign Marles_Greenberg_Persaud_syndrome . . 0.57828 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6469 366061 9 14735140 T C 312051 Benign Marles_Greenberg_Persaud_syndrome . . 0.13059 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6470 366063 9 14735187 C T 318193 Likely_benign Marles_Greenberg_Persaud_syndrome . . 0.08866 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6471 366066 9 14735529 A G 312062 Benign Marles_Greenberg_Persaud_syndrome . . 0.72344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6472 366071 9 14735694 A G 318200 Benign Marles_Greenberg_Persaud_syndrome . . 0.72304 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6473 366075 9 14736005 T TA 317706 Likely_benign Marles_Greenberg_Persaud_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6474 366079 9 14736138 A T 307789 Likely_benign Marles_Greenberg_Persaud_syndrome . . 0.0627 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6475 366085 9 14736409 A C 317732 Likely_benign Marles_Greenberg_Persaud_syndrome . . 0.05571 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6476 262545 9 14737506 T G 253486 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.75257 0.73855 0.73502 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6477 262543 9 14770658 G T 253488 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.36253 0.32681 0.25419 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6478 262542 9 14775853 A G 253489 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.86508 0.86785 0.84724 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6479 262541 9 14775859 G A 253490 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.51916 0.51006 0.41673 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6480 262539 9 14776027 C T 253492 Benign/Likely_benign Marles_Greenberg_Persaud_syndrome|not_specified 0.16114 0.13406 0.10643 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6481 262538 9 14801687 T C 253493 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.17767 0.2176 0.17692 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6482 262537 9 14801710 C A 253494 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.26784 0.32431 0.25998 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6483 262536 9 14806848 C A 253495 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.19126 0.28086 0.15176 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6484 366142 9 14813072 G A 312147 Likely_benign Marles_Greenberg_Persaud_syndrome 0.03275 0.0303 0.01957 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6485 262535 9 14819370 G T 253496 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.2054 0.23026 0.16414 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6486 262534 9 14846036 C G 253497 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.56714 0.60087 0.5008 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6487 262546 9 14851617 T C 253498 Benign Marles_Greenberg_Persaud_syndrome|not_specified 0.72747 0.8054 0.76957 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6488 366172 9 14859356 T C 318323 Benign Marles_Greenberg_Persaud_syndrome 0.15076 0.21001 0.2484 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6489 366182 9 14869110 C G 318337 Benign Marles_Greenberg_Persaud_syndrome . . 0.22844 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6490 120236 9 16435714 T C 125830 not_provided Hypotension 0.10341 . 0.07887 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6491 402871 9 20764870 T C 389806 Benign not_specified 0.35084 0.32427 0.28095 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6492 402872 9 20885240 G A 389891 Benign not_specified 0.57028 . 0.60383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6493 402873 9 20988426 A G 389813 Benign not_specified 0.74297 0.74239 0.76857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6494 366256 9 21862271 A C 317926 Benign Diaphyseal_medullary_stenosis_with_malignant_f... . . 0.46985 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6495 366317 9 21865929 C T 307951 Likely_benign Diaphyseal_medullary_stenosis_with_malignant_f... . . 0.01098 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6496 366434 9 27202870 A G 318153 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malforma... 0.44626 0.46488 0.41434 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6497 518397 9 27203134 A G 508837 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malforma... 0.4471 . 0.41494 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6498 366439 9 27205021 G A 318674 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malforma... 0.21129 0.21137 0.15096 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6499 366450 9 27220066 G A 312397 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malforma... 0.22459 . 0.22424 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6500 366455 9 27229141 T C 318689 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malforma... 0.21113 0.17237 0.22304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6501 366478 9 27230152 G A 318732 Benign Multiple_Cutaneous_and_Mucosal_Venous_Malforma... . . 0.20168 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6502 95315 9 32541532 A G 101214 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Dominant 0.20468 0.18519 0.11422 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6503 95313 9 32542204 A G 101212 Benign/Likely_benign not_specified|Retinitis_Pigmentosa,_Dominant 0.17938 0.20751 0.17911 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6504 214123 9 32974570 G GA 211373 Benign not_specified|Ataxia_with_Oculomotor_Apraxia|C... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6505 366647 9 33113196 G T 318951 Benign Congenital_disorder_of_glycosylation . . 0.94848 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6506 208122 9 34635598 T C 204389 Uncertain_significance Amyotrophic_lateral_sclerosis_16,_juvenile 0.98655 . 0.98742 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6507 402843 9 34724059 G A 389913 Benign not_specified . 0.26909 0.40096 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6508 260123 9 35060955 T C 253528 Benign not_specified 0.76173 0.74608 0.70188 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6509 260128 9 35062972 C T 253532 Benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.75942 0.74418 0.70108 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6510 259478 9 35077441 T C 253537 Benign not_specified 0.76188 0.74589 0.70148 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6511 366742 9 35079913 T C 319080 Benign Fanconi_anemia . . 0.1258 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6512 366744 9 35079973 T TA 312648 Benign Fanconi_anemia . . 0.20647 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6513 366746 9 35080011 C A 308268 Benign Fanconi_anemia . . 0.1258 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6514 366751 9 35089048 A C 312668 Benign Hyperphosphatasia-intellectual_disability_synd... 0.98232 0.99496 0.98403 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6515 670827 9 35089498 G A 664322 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6516 262093 9 35093020 T C 253543 Benign Hyperphosphatasia-intellectual_disability_synd... 0.51899 0.54403 0.47404 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6517 670826 9 35093849 G A 664331 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6518 262100 9 35094373 G A 253544 Benign not_specified 0.04867 . 0.1262 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6519 780046 9 35397166 C G 711959 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6520 138922 9 35658062 G T 142625 Benign not_specified . 0.47592 0.48682 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6521 138920 9 35658072 A G 142623 Benign not_provided . . 0.30451 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6522 94123 9 35684822 C CG 100023 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6523 140484 9 35689373 T C 150162 Benign not_provided . . 0.48003 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6524 679869 9 35690102 A G 664346 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6525 516643 9 35739115 G GC 502951 Benign not_specified 0.69247 0.68747 0.71046 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6526 366776 9 35792423 T C 312693 Benign Acromesomelic_Dysplasia 0.28823 0.23854 0.3135 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6527 366787 9 35802583 C T 312716 Benign Acromesomelic_Dysplasia 0.2881 0.23146 0.3125 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6528 366804 9 36214971 G A 312726 Benign Sialuria|GNE_myopathy|Inclusion_Body_Myopathy,... . . 0.56929 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6529 366811 9 36215581 C T 319172 Benign Sialuria|GNE_myopathy|Inclusion_Body_Myopathy,... . . 0.13359 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6530 366825 9 36216426 G A 312748 Benign Sialuria|GNE_myopathy|Inclusion_Body_Myopathy,... . . 0.30032 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6531 681355 9 36217798 G A 663808 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6532 681354 9 36218018 C G 664336 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6533 681770 9 36218377 C G 664337 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6534 681839 9 36220134 T C 663809 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6535 681838 9 36222649 C G 664354 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6536 671400 9 36223801 C T 663814 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6537 681753 9 36246594 T C 664345 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6538 257526 9 36276857 A G 253556 Benign not_specified|not_provided 0.78612 0.72753 0.65176 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6539 672297 9 36277171 C T 664629 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6540 134998 9 36840623 G A 138737 not_provided not_specified 0.76312 0.86867 0.74201 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6541 204220 9 37426524 C T 200625 Benign Primary_hyperoxaluria|Primary_hyperoxaluria,_t... 0.92211 0.97642 0.91953 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6542 204222 9 37429661 A G 200633 Uncertain_significance Primary_hyperoxaluria,_type_II . 0.89344 0.85204 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6543 21490 9 37429814 A G 34342 Benign Primary_hyperoxaluria|Primary_hyperoxaluria,_t... 0.85699 0.89246 0.84924 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6544 136360 9 38395940 T C 140063 Benign not_specified 0.92081 0.95416 0.9367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6545 136362 9 38396065 G T 140065 Benign not_specified 0.50331 . 0.39497 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6546 136365 9 38396502 G A 140068 Benign not_specified 0.92188 0.95393 0.9385 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6547 768301 9 43828112 A G 706378 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6548 129120 9 71650752 A G 134566 Benign Friedreich_ataxia_1|not_specified|Cardiovascul... . 0.99934 0.98482 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6549 196398 9 71831398 T C 193559 Benign not_specified 0.90381 0.92089 0.89417 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6550 44091 9 71843023 C A 53259 Benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.75804 0.81146 0.77217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6551 259554 9 71865932 G A 253576 Benign not_specified 0.40504 0.37042 0.35982 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6552 367237 9 71869473 G A 319047 Likely_benign Nonsyndromic_Hearing_Loss,_Dominant . 0.5183 0.45667 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6553 508095 9 71990645 C T 503181 Benign not_specified 0.30532 0.39492 0.3131 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6554 367245 9 75136789 G A 313238 Benign Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom... . . 0.51218 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6555 367250 9 75231370 A G 308681 Benign Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom... . . 0.53954 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6556 47874 9 75303653 C T 57038 Benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.52737 0.46095 0.51078 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6557 562091 9 75404222 G GA 553260 Pathogenic Deafness,_autosomal_recessive_7 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6558 47863 9 75431076 C T 57027 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.10234 0.09272 0.04812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6559 367300 9 77376633 A G 319708 Benign Hypomagnesemia_1,_intestinal 0.15308 0.10159 0.16873 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6560 367301 9 77376647 T C 308709 Benign Hypomagnesemia_1,_intestinal 0.23543 0.21123 0.29493 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6561 367314 9 77407636 C T 319714 Benign Hypomagnesemia_1,_intestinal 0.13509 0.23504 0.26837 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6562 367337 9 79792438 G C 319772 Likely_benign Choreoacanthocytosis . . 0.08446 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6563 367371 9 79897117 G A 313352 Likely_benign Choreoacanthocytosis 0.1125 0.09155 0.08387 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6564 367399 9 79952468 A T 319227 Benign Choreoacanthocytosis 0.15495 0.10943 0.1248 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6565 367402 9 79954545 T C 319826 Benign/Likely_benign Choreoacanthocytosis|not_provided 0.20875 0.18191 0.16274 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6566 367404 9 79955305 A AT 319827 Likely_benign Choreoacanthocytosis . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6567 367428 9 79986057 A G 319242 Benign Choreoacanthocytosis|not_provided 0.39766 . 0.41514 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6568 367437 9 80031144 G A 308831 Likely_benign Choreoacanthocytosis . . 0.16534 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6569 367445 9 80031946 C T 308846 Benign Choreoacanthocytosis . . 0.57568 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6570 367449 9 80032300 C A 319255 Benign Choreoacanthocytosis . . 0.2494 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6571 517538 9 80851350 G C 497120 Benign not_specified 0.30126 0.41916 0.28375 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6572 517539 9 80851527 G A 497057 Benign not_specified 0.31213 0.37164 0.28395 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6573 367450 9 80912115 G C 319878 Benign Phosphoserine_aminotransferase_deficiency 0.80114 0.79009 0.76038 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6574 367454 9 80919756 T G 313452 Benign Phosphoserine_aminotransferase_deficiency 0.63563 0.62197 0.4994 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6575 403012 9 86468715 A T 389874 Benign not_specified 0.69591 . 0.65316 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6576 403013 9 86474115 T C 389828 Benign not_specified 0.14027 0.12277 0.12081 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6577 403016 9 86518796 T C 389912 Benign not_specified 0.14032 0.12257 0.12081 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6578 683368 9 93982932 C T 664439 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6579 683351 9 94124414 T C 664444 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6580 367493 9 94485768 GCTCT G 319315 Benign Brachydactyly|Robinow_syndrome,_autosomal_domi... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6581 199097 9 94485928 C T 196256 Benign Brachydactyly|Robinow_syndrome,_autosomal_domi... 0.71974 0.73136 0.75739 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6582 159818 9 94486321 C T 168799 Benign Brachydactyly|Robinow_syndrome,_autosomal_domi... 0.70074 0.71032 0.748 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6583 159815 9 94486688 G A 168802 Benign Brachydactyly|Robinow_syndrome,_autosomal_domi... 0.43265 0.42678 0.41534 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6584 159821 9 94495608 T C 168809 Benign Brachydactyly|Robinow_syndrome,_autosomal_domi... 0.67884 0.6318 0.64497 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6585 259431 9 94518328 C T 253585 Benign not_specified 0.7006 0.67524 0.623 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6586 159823 9 94538115 C G 168811 Benign Brachydactyly|Robinow_syndrome,_autosomal_domi... 0.24896 0.23534 0.19169 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6587 367550 9 94830356 C A 319975 Benign/Likely_benign Neuropathy_hereditary_sensory_and_autonomic_ty... 0.02061 . 0.01158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6588 678245 9 95477951 G T 663918 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6589 670372 9 95480251 G A 664457 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6590 678244 9 95481975 C G 664458 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6591 670371 9 95482536 G C 663925 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6592 678242 9 95485323 C CCCTGACA 664462 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6593 678240 9 95491094 T C 663929 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6594 678238 9 95526667 G C 664697 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6595 256318 9 97365642 G A 253586 Benign/Likely_benign Fructose-biphosphatase_deficiency|not_specified 0.50561 0.52444 0.48702 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6596 256326 9 97365720 T C 253587 Benign Fructose-biphosphatase_deficiency|not_specified 0.88528 0.86373 0.90715 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6597 256324 9 97369083 G A 253589 Benign/Likely_benign Fructose-biphosphatase_deficiency|not_specified 0.50308 0.52659 0.48323 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6598 256323 9 97369149 C T 253590 Benign Fructose-biphosphatase_deficiency|not_specified 0.95441 0.95607 0.97644 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6599 256321 9 97372172 C T 253592 Benign not_specified 0.40966 0.4015 0.34425 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6600 367618 9 98205443 C A 320065 Likely_benign Holoprosencephaly_sequence|Gorlin_syndrome . . 0.21526 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6601 41663 9 98209594 G A 50102 Benign Holoprosencephaly_sequence|Gorlin_syndrome|Her... 0.29925 . 0.39677 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6602 255668 9 98270646 T TGCCGCC 253618 Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6603 668604 9 98279370 T A 664509 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6604 255510 9 99006578 T C 253620 Benign not_specified 0.29633 0.22662 0.1887 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6605 255509 9 99013663 A G 253621 Benign not_specified 0.88029 0.84798 0.86741 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6606 255508 9 99064202 C CA 253622 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6607 190206 9 100459578 T C 187985 Benign Xeroderma_pigmentosum|not_specified 0.74696 . 0.64637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6608 95096 9 100616583 T C 100996 Benign Bamforth_syndrome|not_specified 0.80271 0.80053 0.88279 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6609 95098 9 100617021 C T 100998 Benign Bamforth_syndrome|not_specified . 0.68639 0.6861 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6610 132156 9 101340316 T C 18370 . . 0.18691 0.16858 0.16114 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6611 262847 9 101533220 C T 253637 Benign not_specified 0.96304 . 0.8752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6612 262851 9 101558444 G A 253655 Benign not_specified . 0.26053 0.1238 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6613 262843 9 101558609 G A 253656 Benign not_specified . 0.69231 0.26597 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6614 162170 9 101908365 T G 171883 not_provided not_provided . . 0.30092 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6615 364112 9 101912471 A G 313819 Benign Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th... . . 0.33187 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6616 364155 9 101914387 G A 320250 Benign Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th... . . 0.32588 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6617 364189 9 101916165 T G 313875 Benign Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th... . . 0.32987 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6618 364220 9 102861613 T G 310311 Benign Nephronophthisis|not_specified . . 0.27875 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6619 95594 9 103015184 T C 101492 Benign Nephronophthisis|Infantile_nephronophthisis|no... 0.3097 0.32244 0.21046 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6620 95597 9 103054951 T C 101495 Benign Nephronophthisis|Infantile_nephronophthisis|no... 0.57389 . 0.40735 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6621 260414 9 103059476 A G 253246 Benign not_specified 0.64954 . 0.75799 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6622 674703 9 103341014 G A 663440 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6623 364267 9 104123762 G T 310356 Benign Hypercholanemia . . 0.73143 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6624 364275 9 104124664 C T 306252 Benign Hypercholanemia 0.79794 0.78863 0.71406 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6625 257518 9 104133628 C T 253251 Benign not_specified|Hypercholanemia 0.6314 0.64611 0.5629 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6626 364288 9 104182940 T C 306261 Benign Hereditary_fructosuria . . 0.4978 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6627 364306 9 104184022 G A 315824 Benign Hereditary_fructosuria . . 0.44189 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6628 364341 9 107544700 C T 306320 Benign Tangier_disease|Familial_High_Density_Lipoprot... . . 0.85763 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6629 364350 9 107545129 TA T 310442 Benign Tangier_disease|Familial_High_Density_Lipoprot... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6630 364351 9 107545156 G A 310443 Benign Tangier_disease|Familial_High_Density_Lipoprot... . . 0.44109 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6631 364361 9 107545903 G A 315940 Benign Tangier_disease|Familial_High_Density_Lipoprot... . . 0.44549 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6632 364398 9 107562804 T C 315817 Benign Tangier_disease|Familial_High_Density_Lipoprot... 0.58504 0.69363 0.53834 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6633 364451 9 107602678 G A 306387 Benign Tangier_disease|Familial_High_Density_Lipoprot... 0.09895 . 0.08207 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6634 9506 9 107620867 C T 24545 Benign Tangier_disease|Coronary_heart_disease_in_fami... . 0.32994 0.4397 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6635 364460 9 107624029 C T 315879 Benign Tangier_disease|Familial_High_Density_Lipoprot... 0.32224 . 0.3724 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6636 364468 9 107665978 C G 306401 Benign Tangier_disease|Familial_High_Density_Lipoprot... 0.08917 0.17898 0.14177 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6637 364470 9 107666035 G GC 316138 Benign Tangier_disease|Familial_High_Density_Lipoprot... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6638 364481 9 107690450 G A 316143 Benign Tangier_disease|Familial_High_Density_Lipoprot... . . 0.36122 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6639 369619 9 107690535 G C 353848 Benign Tangier_disease|Familial_High_Density_Lipoprot... . . 0.78714 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6640 364484 9 108335958 G C 316150 Likely_benign Fukuyama_congenital_muscular_dystrophy|Dilated... . . 0.16693 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6641 93522 9 108366734 G A 99427 Benign/Likely_benign Fukuyama_congenital_muscular_dystrophy|Limb-gi... 0.26457 0.24461 0.15815 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6642 680195 9 108369060 G A 663471 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6643 672695 9 108370361 T C 663573 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6644 671112 9 108380004 G A 662952 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6645 93510 9 108380355 C A 99415 Benign/Likely_benign Fukuyama_congenital_muscular_dystrophy|Limb-gi... 0.29088 0.25185 0.17832 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6646 283468 9 108401923 GA G 267705 Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6647 364524 9 108402586 G A 315938 Uncertain_significance Fukuyama_congenital_muscular_dystrophy|Dilated... . . 0.10923 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6648 364525 9 108402607 G A 306441 Uncertain_significance Fukuyama_congenital_muscular_dystrophy|Dilated... . . 0.06769 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6649 669660 9 108483589 G A 663588 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6650 364536 9 111630044 G T 306458 Benign Familial_dysautonomia . . 0.44728 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6651 364545 9 111630324 C T 316271 Likely_benign Familial_dysautonomia . . 0.07508 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6652 681916 9 111631647 C T 663463 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6653 681954 9 111636986 C T 663481 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6654 673446 9 111637304 G T 663589 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6655 681952 9 111637471 G T 663467 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6656 681949 9 111640524 G C 663482 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6657 681948 9 111640553 T G 662964 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6658 681947 9 111640595 A G 662967 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6659 681945 9 111640631 C T 663596 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6660 681892 9 111640667 C T 663483 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6661 681891 9 111641527 G A 663469 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6662 259113 9 111641825 G A 253259 Benign/Likely_benign Familial_dysautonomia|not_specified|not_provided 0.2119 0.19878 0.24501 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6663 681939 9 111643875 G A 663485 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6664 681918 9 111651407 A C 662987 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6665 259112 9 111651620 A T 253260 Benign/Likely_benign Familial_dysautonomia|not_specified|not_provided 0.21252 . 0.24581 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6666 673445 9 111653460 A G 663484 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6667 681914 9 111655064 A G 662994 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6668 683637 9 111655932 A T 663487 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6669 681912 9 111661150 G A 663617 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6670 670532 9 111670707 T C 663525 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6671 681867 9 111670824 T C 663527 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6672 681861 9 111673137 G C 663029 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6673 681856 9 111678428 T A 663531 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6674 259115 9 111679964 C CA 253264 Benign/Likely_benign Familial_dysautonomia|not_specified 0.1236 0.0959 0.08646 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6675 681855 9 111680865 T C 663034 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6676 137583 9 111688828 C T 141286 Benign/Likely_benign Familial_dysautonomia|not_specified|not_provided 0.07327 0.09356 0.07987 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6677 681852 9 111693132 T C 663507 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6678 476298 9 111929420 CG GC 458810 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6679 671339 9 113444694 A G 663691 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6680 673467 9 113449078 G A 663044 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6681 683224 9 113449271 G C 663045 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6682 259808 9 113449377 T C 253267 Benign not_specified 0.04926 0.05697 0.05711 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6683 667461 9 113457348 G A 663517 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6684 129635 9 113457726 G A 135081 Benign not_specified|Congenital_Myasthenic_Syndrome,_... 0.15448 0.24156 0.17013 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6685 684084 9 113459369 G A 663693 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6686 259811 9 113459768 C G 253270 Benign not_specified|not_provided 0.05828 . 0.06909 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6687 683225 9 113490776 C T 663697 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6688 684078 9 113509778 C T 663048 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6689 259813 9 113524511 AT A 253272 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6690 667462 9 113539185 T A 663712 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6691 667463 9 113539210 G T 663717 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6692 673483 9 113546795 A G 663538 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6693 684079 9 113547001 A C 663521 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6694 259801 9 113547322 T C 253275 Benign not_specified|not_provided 0.94181 0.94489 0.97005 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6695 259804 9 113550168 T C 253278 Benign not_specified|not_provided 0.48034 0.48648 0.3766 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6696 129633 9 113563143 G T 135079 Benign Pena-Shokeir_syndrome_type_I|Myasthenic_syndro... 0.09469 . 0.10683 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6697 364618 9 116148630 C T 306496 Benign Porphobilinogen_synthase_deficiency . . 0.78055 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6698 364621 9 116148767 CTT C 316070 Likely_benign Porphobilinogen_synthase_deficiency . . 0.01198 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6699 364632 9 116150109 G A 306504 Benign Porphobilinogen_synthase_deficiency . . 0.59764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6700 364663 9 116163570 C CGGGG 316096 Uncertain_significance Porphobilinogen_synthase_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6701 678779 9 117166034 T C 663054 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6702 45672 9 117166246 A G 54837 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.41073 0.47856 0.40635 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6703 163045 9 117166338 G C 174544 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.99354 0.99796 0.99101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6704 45663 9 117169033 A G 54828 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.492 0.5311 0.48163 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6705 678778 9 117169300 A G 663059 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6706 671522 9 117169973 G GGTCAAA 663523 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6707 678777 9 117185395 A G 663727 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6708 45650 9 117186677 A G 54815 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.76211 0.79413 0.83007 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6709 45640 9 117188566 C T 54805 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.98062 0.99418 0.97724 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6710 137078 9 117265406 C T 140781 Benign not_specified . . 0.25539 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6711 45644 9 117266965 C T 54809 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.32273 0.33393 0.25559 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6712 364700 9 117267172 G A 316505 Likely_benign Retinitis_pigmentosa-deafness_syndrome|Nonsynd... . . 0.25539 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6713 364704 9 117267472 G T 316132 Likely_benign Retinitis_pigmentosa-deafness_syndrome|Nonsynd... . . 0.27616 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6714 364707 9 117267591 C T 316135 Likely_benign Retinitis_pigmentosa-deafness_syndrome|Nonsynd... . . 0.27636 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6715 364711 9 117267681 AGCCTCCGC A 316153 Likely_benign Retinitis_pigmentosa-deafness_syndrome|Nonsynd... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6716 95495 9 119461275 G A 101394 Benign/Likely_benign Sarcotubular_myopathy|Bardet-Biedl_syndrome|no... 0.1068 0.10947 0.10363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6717 364723 9 119462112 C T 310785 Benign Bardet-Biedl_syndrome|Limb-Girdle_Muscular_Dys... . . 0.94908 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6718 771880 9 121929932 C T 700773 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6719 668863 9 123202516 T C 663577 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6720 136705 9 123220829 A G 140408 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_3|not... 0.18407 0.15039 0.23283 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6721 158132 9 123249744 A C 168738 Likely_benign not_specified 0.16325 0.14891 0.21046 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6722 158127 9 123280950 T C 167980 Benign not_specified|not_provided 0.83692 0.87626 0.79573 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6723 678304 9 123287592 C G 663781 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6724 158171 9 123290996 C A 168744 Likely_benign not_specified 0.0958 . 0.14697 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6725 21657 9 123291036 C G 34509 Benign Primary_autosomal_recessive_microcephaly_3|not... 0.84838 0.87717 0.80112 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6726 136707 9 123301346 T G 140410 Benign/Likely_benign not_specified|Primary_Microcephaly,_Recessive 0.06028 . 0.11661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6727 678303 9 123308276 T C 663551 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6728 668860 9 123312819 C T 663554 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6729 670443 9 123313246 T C 663578 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6730 678302 9 123330813 T C 663082 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6731 95896 9 123342259 C A 101792 Benign Primary_autosomal_recessive_microcephaly_3|not... 0.97378 0.99214 0.98043 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6732 95895 9 123342275 A G 101791 Benign Primary_autosomal_recessive_microcephaly_3|not... 0.95879 0.98782 0.96546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6733 668859 9 123342609 G A 663084 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6734 403564 9 123671520 G A 389868 Benign not_specified 0.69376 0.68768 0.73203 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6735 402454 9 123769200 C T 389792 Benign not_specified 0.32485 0.45864 0.40475 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6736 402455 9 123780005 G A 389839 Benign not_specified 0.32454 0.45698 0.40575 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6737 403271 9 125391770 C CA 390573 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6738 180703 9 126139229 G A 178868 Benign Focal_segmental_glomerulosclerosis_9|not_provided 0.00115 0.00135 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6739 701815 9 127243637 A G 687351 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6740 701816 9 127244955 G A 687352 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6741 258622 9 129377855 G C 253286 Benign Nail-patella_syndrome|not_specified 0.29502 0.34027 0.22764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6742 364909 9 129459314 C T 310869 Benign Nail-patella_syndrome . . 0.21805 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6743 364912 9 129459438 G A 316399 Benign Nail-patella_syndrome . . 0.20567 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6744 364913 9 129459478 C T 316653 Benign Nail-patella_syndrome . . 0.23403 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6745 364935 9 129460312 A G 310880 Benign Nail-patella_syndrome . . 0.41034 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6746 364939 9 129460396 C T 306743 Benign Nail-patella_syndrome . . 0.21685 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6747 364952 9 129460914 A G 310893 Benign Nail-patella_syndrome . . 0.49701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6748 364957 9 129461318 CTT C 316709 Benign Nail-patella_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6749 364961 9 129461714 C T 316717 Benign Nail-patella_syndrome . . 0.28734 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6750 364964 9 129461912 A G 316722 Benign Nail-patella_syndrome . . 0.30152 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6751 364967 9 129462072 T C 316735 Benign Nail-patella_syndrome . . 0.27915 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6752 364968 9 129462076 G A 316736 Benign Nail-patella_syndrome . . 0.21546 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6753 364979 9 129462501 G T 310920 Benign Nail-patella_syndrome . . 0.54074 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6754 364982 9 129462563 A G 310921 Benign Nail-patella_syndrome . . 0.54812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6755 364983 9 129462594 T C 316487 Benign Nail-patella_syndrome . . 0.54832 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6756 364987 9 129462687 C A 316496 Benign Nail-patella_syndrome . . 0.53235 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6757 364992 9 129462901 T C 316768 Benign Nail-patella_syndrome . . 0.55112 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6758 670536 9 130216951 G T 663086 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6759 683120 9 130217050 C G 663090 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6760 365009 9 130219669 C T 306822 Benign Charcot-Marie-Tooth_disease_type_2P|Charcot-Ma... 0.60549 . 0.55751 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6761 670537 9 130219743 T C 663582 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6762 670538 9 130221388 T C 663102 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6763 683123 9 130223754 G A 663557 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6764 684245 9 130224927 A G 663784 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6765 670497 9 130236243 G A 663794 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6766 683118 9 130240980 A G 663806 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6767 670496 9 130241822 T C 663811 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6768 365020 9 130242109 C T 310994 Benign Charcot-Marie-Tooth_disease_type_2P|Charcot-Ma... 0.44623 0.42325 0.35204 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6769 365021 9 130242166 A G 306833 Benign Charcot-Marie-Tooth_disease_type_2P|Charcot-Ma... 0.74181 0.77762 0.72724 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6770 683125 9 130245545 G C 663106 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6771 684248 9 130248366 T A 663813 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6772 683127 9 130251512 G A 663820 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6773 683119 9 130253286 G GA 663821 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6774 683129 9 130258160 A T 663591 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6775 365033 9 130259618 A C 310996 Benign Charcot-Marie-Tooth_disease_type_2P|Charcot-Ma... 0.73858 . 0.72883 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6776 670143 9 130430116 A G 663132 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6777 670144 9 130446493 A G 663138 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6778 439396 9 130630639 A G 433354 Benign not_specified 0.99816 0.99945 0.9982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6779 128921 9 130698029 G C 134368 Benign Congenital_disorder_of_glycosylation|Congenita... 0.8044 0.7873 0.68351 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6780 128920 9 130698043 A G 134367 Benign Congenital_disorder_of_glycosylation|Congenita... 0.80571 . 0.73103 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6781 679336 9 130699917 G A 663618 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6782 365118 9 130700251 T C 306884 Benign Congenital_disorder_of_glycosylation|not_provided . . 0.68391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6783 365125 9 130700727 T C 306897 Benign Congenital_disorder_of_glycosylation|not_provided . . 0.68391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6784 403029 9 130914170 C G 389888 Benign not_specified 0.4757 . 0.47923 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6785 679298 9 130981064 C T 663636 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6786 679299 9 130981145 T A 663620 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6787 679313 9 130981666 G C 663638 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6788 679300 9 130982416 C T 663874 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6789 679301 9 130984430 C A 663639 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6790 380777 9 130984755 C T 370266 Benign History_of_neurodevelopmental_disorder|not_spe... 0.40428 0.53255 0.45467 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6791 679316 9 130988615 C A 663151 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6792 679303 9 130988616 C T 663625 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6793 679304 9 131001692 G C 663881 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6794 679307 9 131012256 T C 663664 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6795 679309 9 131015279 G A 663887 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6796 128832 9 131088076 G A 134280 Benign not_specified|not_provided 0.0925 . 0.13339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6797 683561 9 131088464 C T 663678 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6798 380011 9 131095112 A C 372181 Benign not_specified 0.35422 0.245 0.3778 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6799 676201 9 131095332 C T 663641 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6800 256859 9 131277769 CTTATTTT C 253313 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6801 198109 9 131285955 A G 195270 Benign Lethal_arthrogryposis_with_anterior_horn_cell_... 0.26472 0.26787 0.34744 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6802 256856 9 131289600 G T 253316 Benign not_specified 0.20268 . 0.26937 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6803 256858 9 131298590 A G 253318 Benign not_specified 0.26242 0.26798 0.34705 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6804 365136 9 131303522 G A 317080 Benign Lethal_arthrogryposis_with_anterior_horn_cell_... . . 0.26597 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6805 680786 9 131329591 G A 663889 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6806 670130 9 131331320 C T 663680 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6807 680787 9 131331450 A G 663682 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6808 670623 9 131337389 C T 663894 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6809 160023 9 131337661 A C 168756 Likely_benign not_specified 0.96871 . 0.95148 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6810 670131 9 131337843 A G 663177 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6811 680788 9 131340810 T A 663650 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6812 680789 9 131340845 T C 663193 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6813 680790 9 131341642 T C 663690 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6814 670132 9 131341669 G A 663196 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6815 160001 9 131347165 G A 168766 Likely_benign not_specified 0.96917 0.99098 0.96905 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6816 160002 9 131347169 C T 168767 Benign not_specified|not_provided 0.73328 0.79283 0.61921 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6817 670575 9 131348440 C G 663667 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6818 680791 9 131348501 G A 663702 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6819 160009 9 131360750 C T 168774 Benign Seizures|not_specified|Early_Infantile_Epilept... 0.76042 0.80638 0.64277 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6820 670576 9 131366070 G A 663718 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6821 160013 9 131374165 C G 168778 Likely_benign not_specified 0.96886 0.99113 0.96825 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6822 139297 9 131379967 C T 143000 Benign Seizures|not_specified|Early_Infantile_Epilept... 0.73282 0.79132 0.61701 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6823 675006 9 131380149 C G 663732 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6824 160018 9 131380225 A C 168783 Benign not_specified|not_provided 0.21067 0.18663 0.30931 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6825 160021 9 131388643 C T 168786 Benign not_specified|not_provided 0.72359 0.79151 0.61142 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6826 670577 9 131389194 G C 663692 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6827 670133 9 131389215 T C 663237 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6828 670134 9 131389544 C T 663239 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6829 680792 9 131390472 C A 663251 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6830 160025 9 131392553 G A 168789 Likely_benign not_specified 0.93065 0.97493 0.91933 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6831 680795 9 131392904 G GT 663734 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6832 680796 9 131392942 T G 663253 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6833 516214 9 131397479 G A 502578 Benign not_specified 0.73259 0.78827 0.62141 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6834 516213 9 131398636 C T 502261 Benign not_specified 0.70688 0.80456 0.60144 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6835 516212 9 131403096 A G 502581 Benign not_specified 0.83546 0.82682 0.74002 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6836 516203 9 131418828 A C 502690 Benign Short-rib_thoracic_dysplasia_11_with_or_withou... 0.99841 0.9998 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6837 403061 9 131670919 T C 389851 Benign not_specified 0.58574 0.69438 0.57109 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6838 439873 9 131670952 C T 433677 Benign Agammaglobulinemia_5,_autosomal_dominant 0.01984 0.03668 0.03055 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6839 403263 9 131761437 A G 389857 Benign not_specified 0.29502 0.34937 0.26178 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6840 403264 9 131761899 A G 389889 Benign not_specified 0.29571 0.35673 0.27915 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6841 403265 9 131764014 A C 389875 Benign not_specified 0.171 0.15003 0.24441 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6842 403266 9 131767668 A C 389796 Benign not_specified 0.42534 0.43128 0.45168 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6843 365216 9 132575426 GC G 307031 Likely_benign Dystonia_1 . . 0.15675 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6844 365225 9 132575837 C A 316771 Likely_benign Dystonia_1 . . 0.07867 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6845 365229 9 132576060 C A 316779 Likely_benign Dystonia_1 . . 0.15875 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6846 255134 9 132585058 G A 253324 Benign/Likely_benign Dystonia_1|not_specified 0.23428 0.22747 0.22624 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6847 365239 9 133320102 G GT 307052 Uncertain_significance Citrullinemia_type_I . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6848 683297 9 133327439 T C 663720 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6849 92370 9 133346920 A G 98281 Benign Citrullinemia_type_I|not_specified 0.76511 0.85003 0.79233 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6850 802519 9 133346983 A G 790846 Benign Citrullinemia_type_I . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6851 683317 9 133347080 G A 663936 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6852 254749 9 133355874 A G 253332 Benign not_specified 0.88874 . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6853 92376 9 133364757 T C 98287 Benign/Likely_benign Citrullinemia_type_I|not_specified 0.10288 0.09416 0.07668 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6854 291084 9 133884600 C T 275321 Conflicting_interpretations_of_pathogenicity not_specified|not_provided . 0 0.00499 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6855 435741 9 133901819 CC AG 428927 Benign/Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6856 129474 9 133911598 A G 134920 Benign/Likely_benign Cortical_malformations,_occipital|not_specified 0.87117 . 0.84824 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6857 129477 9 133911706 C T 134923 Benign/Likely_benign Cortical_malformations,_occipital|not_specified 0.39668 0.45579 0.39836 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6858 129448 9 133914321 C T 134894 Likely_benign not_specified 0.07744 0.07746 0.07488 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6859 129449 9 133914570 G A 134895 Benign/Likely_benign Cortical_malformations,_occipital|not_specified 0.20652 0.21179 0.15495 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6860 682995 9 133921251 C G 663254 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6861 684032 9 133921333 G A 663740 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6862 129451 9 133924451 C T 134897 Benign Cortical_malformations,_occipital|not_specified 0.27311 0.28405 0.25859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6863 129452 9 133927878 A G 134898 Likely_benign not_specified 0.495 0.45924 0.47125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6864 129454 9 133928345 C T 134900 Benign/Likely_benign Cortical_malformations,_occipital|not_specified 0.491 0.44957 0.47983 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6865 682996 9 133932240 A C 663262 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6866 682997 9 133932676 C T 663264 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6867 682998 9 133936334 G A 663747 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6868 670957 9 133936381 G A 663272 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6869 129456 9 133936571 C G 134902 Benign/Likely_benign Cortical_malformations,_occipital|not_specified 0.86512 . 0.78674 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6870 682999 9 133936775 C T 663278 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6871 684033 9 133942844 T C 663951 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6872 684035 9 133942872 G A 663954 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6873 684036 9 133942889 A C 663728 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6874 684039 9 133942899 G A 663279 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6875 684041 9 133943145 C G 663751 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6876 669392 9 133943172 T TG 663753 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6877 684043 9 133943181 C T 663754 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6878 683000 9 133944065 G A 663955 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6879 684044 9 133946574 G A 663731 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6880 683003 9 133946774 C T 663738 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6881 129458 9 133946909 G A 134904 Benign not_specified 0.33485 . 0.29293 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6882 129459 9 133946915 C G 134905 Benign not_specified 0.33485 0.36943 0.29313 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6883 129460 9 133948049 A G 134906 Benign Cortical_malformations,_occipital|not_specified 0.76757 0.79312 0.69908 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6884 683006 9 133954288 C T 663280 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6885 129464 9 133962853 C T 134910 Benign not_specified 0.20621 0.23594 0.16773 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6886 129465 9 133962930 C T 134911 Benign/Likely_benign Cortical_malformations,_occipital|not_specified 0.30201 0.28471 0.22205 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6887 129466 9 133963008 G A 134912 Benign not_specified 0.20345 0.23092 0.16334 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6888 129467 9 133963101 A G 134913 Benign/Likely_benign Cortical_malformations,_occipital|not_specified 0.37706 0.40798 0.37121 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6889 683007 9 133963322 C T 663285 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6890 683933 9 134382111 G A 663742 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6891 667978 9 134382556 G A 663286 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6892 667979 9 134382673 C T 663960 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6893 683940 9 134383958 C T 663758 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6894 667980 9 134384066 A G 663288 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6895 260149 9 134384277 T C 253336 Benign not_specified|not_provided 0.88067 0.92329 0.87101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6896 667981 9 134384500 C T 663761 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6897 667982 9 134384513 A G 663762 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6898 227021 9 134385436 A G 229676 Benign not_specified 0.87929 0.92302 0.87061 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6899 260151 9 134385599 A G 253338 Benign not_specified|not_provided 0.88052 . 0.87081 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6900 667983 9 134385977 G A 663291 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6901 683942 9 134386425 T A 663745 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6902 260152 9 134386675 T G 253339 Benign not_specified|not_provided 0.97563 0.99313 0.98123 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6903 167519 9 134386744 T C 177969 Benign not_specified 0.88052 0.92308 0.87081 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6904 260139 9 134386903 G A 253340 Benign not_specified|not_provided 0.88059 0.92311 0.87081 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6905 668002 9 134387038 G A 663967 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6906 668003 9 134387100 G A 663294 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6907 683944 9 134387133 T C 663746 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6908 668004 9 134387255 C T 663970 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6909 668005 9 134387315 C G 663764 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6910 167520 9 134387488 T C 177970 Benign not_specified 0.88052 0.92319 0.87081 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6911 669393 9 134388340 T TC 663766 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6912 668006 9 134388446 G A 663767 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6913 670963 9 134394163 A G 663299 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6914 668009 9 134394646 A G 663752 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6915 260142 9 134395628 C G 253343 Benign not_specified|not_provided 0.84107 0.90084 0.83147 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6916 668011 9 134395687 C A 663787 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6917 683948 9 134396394 A G 663308 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6918 668013 9 134397057 C G 663795 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6919 668014 9 134397186 T C 663987 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6920 95460 9 134397624 C T 101359 Benign not_specified|Limb-Girdle_Muscular_Dystrophy,_... 0.84169 0.89961 0.83167 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6921 668015 9 134398249 C T 663768 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6922 260136 9 134398534 T C 253349 Benign not_specified|Limb-Girdle_Muscular_Dystrophy,_... 0.87898 0.92445 0.87041 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6923 288427 9 134398719 T C 272664 Benign not_specified|Limb-Girdle_Muscular_Dystrophy,_... . . 0.87081 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6924 365290 9 134398771 T C 307106 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.87121 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6925 365291 9 134398778 A G 311230 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.98123 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6926 365293 9 134398841 C T 311243 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.86641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6927 365295 9 134398946 T C 317271 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.749 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6928 365305 9 135137364 T C 307130 Likely_benign Amyotrophic_Lateral_Sclerosis,_Dominant|Ataxia... . . 0.09545 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6929 365332 9 135139193 ATC A 307148 Likely_benign Amyotrophic_Lateral_Sclerosis,_Dominant|Ataxia... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6930 95669 9 135139901 T C 101566 Benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.44418 0.39261 0.53874 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6931 260516 9 135150616 T C 253351 Benign not_specified 0.15134 0.17288 0.25 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6932 260514 9 135152439 A G 253353 Benign/Likely_benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.09419 0.09115 0.09465 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6933 260513 9 135153668 C T 253354 Benign not_specified 0.4431 0.38841 0.53395 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6934 95667 9 135172412 A G 101564 Benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.30717 0.28801 0.44169 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6935 95666 9 135173454 C CA 101563 Benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.22607 0.25283 0.374 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6936 95665 9 135173685 T C 101562 Benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.30678 0.27579 0.44309 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6937 95664 9 135187128 G A 101561 Benign not_specified 0.22543 . 0.3748 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6938 95663 9 135202829 T C 101560 Benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.69376 0.72516 0.55611 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6939 95662 9 135203231 C T 101559 Benign Amyotrophic_lateral_sclerosis_type_4|not_speci... 0.69307 0.72508 0.55611 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6940 95661 9 135203409 A C 101558 Benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.79294 . 0.64058 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6941 193716 9 135203838 G A 190879 Benign/Likely_benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.06705 0.10723 0.11422 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6942 95658 9 135206460 A G 101555 Benign not_specified|Amyotrophic_Lateral_Sclerosis,_D... 0.77545 0.7477 0.6266 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6943 365414 9 135767943 C T 316990 Benign Tuberous_sclerosis_syndrome|Focal_cortical_dys... . . 0.72584 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6944 365476 9 135770115 C T 317457 Benign Tuberous_sclerosis_syndrome|Focal_cortical_dys... . . 0.77336 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6945 365477 9 135770134 G A 317459 Benign Tuberous_sclerosis_syndrome|Focal_cortical_dys... . . 0.45068 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6946 365479 9 135770300 G A 311481 Benign Tuberous_sclerosis_syndrome|Focal_cortical_dys... . . 0.55212 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6947 365480 9 135770347 A C 317467 Benign Tuberous_sclerosis_syndrome|Focal_cortical_dys... . . 0.7482 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6948 365504 9 135771332 GA G 317055 Benign Tuberous_sclerosis_syndrome|Focal_cortical_dys... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6949 41697 9 135771987 C CGCT 50136 Benign Tuberous_sclerosis_syndrome|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6950 670691 9 135776034 C T 663309 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6951 668726 9 135802298 A G 663778 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6952 676422 9 136223043 C G 663990 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6953 139377 9 136223366 G A 143080 Benign Leigh_syndrome|not_specified . 0.53536 0.51198 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6954 666612 9 136291063 C T 654535 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6955 242806 9 136301982 C G 20852 Benign Upshaw-Schulman_syndrome|not_specified . 0.45302 0.27157 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6956 262450 9 136324239 C A 253402 Benign Upshaw-Schulman_syndrome|not_specified 0.24731 . 0.23063 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6957 680522 9 136401425 G A 663780 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6958 680461 9 136401606 A C 663992 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6959 680523 9 136402345 T A 663995 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6960 680462 9 136403754 T C 663997 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6961 680463 9 136404694 T C 663786 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6962 680464 9 136404724 A G 663812 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6963 680465 9 136409367 T C 663816 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6964 680466 9 136409404 G C 663817 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6965 680467 9 136409420 A G 663999 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6966 680519 9 136409457 A G 663818 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6967 680468 9 136409529 C T 664001 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6968 365578 9 136409580 T G 307319 Benign Geleophysic_dysplasia_1|Geleophysic_dysplasia|... 0.87713 . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6969 680470 9 136409854 C T 663789 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6970 680471 9 136412041 C T 664007 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6971 365581 9 136412170 C T 311619 Benign Geleophysic_dysplasia_1|Geleophysic_dysplasia|... 0.87537 0.81938 0.72404 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6972 365582 9 136412236 A T 307323 Benign Geleophysic_dysplasia_1|Geleophysic_dysplasia|... 0.87552 0.81968 0.72464 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6973 365583 9 136412255 A C 307324 Benign Geleophysic_dysplasia_1|Geleophysic_dysplasia|... 0.8756 . 0.72464 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6974 365585 9 136412346 C T 311626 Benign Geleophysic_dysplasia_1|Geleophysic_dysplasia|... 0.87498 0.81809 0.72045 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6975 680472 9 136412382 T C 664018 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6976 518396 9 136434598 A G 508836 Benign Geleophysic_dysplasia_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6977 365614 9 136440144 G A 311656 Benign Geleophysic_dysplasia . . 0.46366 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6978 217759 9 136500515 T C 214409 Benign Orthostatic_hypotension_1 . . 0.78734 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6979 217758 9 136505114 A G 214410 Benign Orthostatic_hypotension_1 0.5732 0.45987 0.42991 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6980 365637 9 136505127 C T 307375 Likely_benign Orthostatic_hypotension_1 0.04498 . 0.02796 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6981 365653 9 136509448 C G 317212 Benign Orthostatic_hypotension_1 0.1414 . 0.1244 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6982 365661 9 136518097 A G 317218 Benign Orthostatic_hypotension_1 0.52545 0.55707 0.62121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6983 365667 9 136522187 A G 317226 Benign Orthostatic_hypotension_1 0.23297 0.27337 0.24042 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6984 768335 9 136637177 A ACACACGGCCCCGGCGGTCACTGCGTGAGGGC 777727 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6985 365701 9 137533787 T G 311702 Benign Ehlers-Danlos_syndrome,_type_7A|not_provided . . 0.9994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6986 683369 9 137582487 C T 663804 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6987 672237 9 137582580 G A 663826 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
6988 672239 9 137593392 C T 663370 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6989 683371 9 137618792 G A 663819 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6990 672240 9 137618970 G A 663829 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6991 136922 9 137619195 C T 140625 Benign Ehlers-Danlos_syndrome,_type_7A|not_specified|... 0.33215 . 0.34265 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6992 672241 9 137619425 T G 663853 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6993 683374 9 137619514 G C 663834 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6994 672242 9 137620336 G A 663854 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6995 255100 9 137620474 C T 253405 Benign not_specified|not_provided 0.37137 . 0.40895 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6996 672243 9 137620847 A C 663845 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6997 255102 9 137622033 A G 253406 Benign not_specified|not_provided 0.37142 0.45932 0.40815 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6998 255101 9 137622039 G A 253407 Benign not_specified|not_provided 0.37098 0.45904 0.40875 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
6999 672244 9 137622455 A C 664051 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7000 672245 9 137623193 C T 663850 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7001 255049 9 137623555 T C 253410 Benign Ehlers-Danlos_syndrome,_classic_type|not_speci... 0.37982 . 0.41933 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7002 439524 9 137623601 C G 433429 Benign Ehlers-Danlos_syndrome,_classic_type|not_provided . . 0.70807 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7003 683357 9 137630015 C T 663855 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7004 678461 9 137658608 A G 664110 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7005 672246 9 137658730 T C 664115 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7006 673129 9 137659000 C T 663891 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7007 255061 9 137659236 C T 253422 Benign not_specified|not_provided 0.0233 0.02732 0.03055 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7008 670978 9 137660194 G T 663893 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7009 670979 9 137660375 A G 664119 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7010 673131 9 137660455 T C 663897 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7011 678518 9 137660532 G C 663418 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7012 683367 9 137664376 T G 663888 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7013 673132 9 137664871 G C 663914 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7014 674554 9 137666528 G A 664145 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7015 669861 9 137667008 G T 663916 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7016 136866 9 137672012 C T 140569 Benign not_specified|not_provided 0.35876 0.40884 0.28794 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7017 669630 9 137672282 A G 663438 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7018 669899 9 137674224 C G 663442 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7019 255062 9 137674488 G A 253423 Benign not_specified|not_provided 0.17038 0.13494 0.15296 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7020 674557 9 137676675 C T 664176 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7021 674560 9 137676745 T C 663928 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7022 683375 9 137677588 A C 664183 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7023 255067 9 137677921 C T 253428 Benign not_specified 0.07373 0.08641 0.0609 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7024 673905 9 137677985 C T 663450 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7025 672247 9 137678038 T C 663948 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7026 255069 9 137686906 C T 253430 Benign not_specified|not_provided 0.65985 0.61135 0.69169 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7027 671001 9 137687038 A G 663965 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7028 672248 9 137687314 C T 663454 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7029 672249 9 137688048 T C 664185 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7030 672275 9 137688427 T G 663904 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7031 669635 9 137689033 T TTC 663985 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7032 673590 9 137689981 C T 664194 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7033 669741 9 137693499 G C 664002 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7034 674562 9 137696713 C T 663473 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7035 674563 9 137697210 A G 664009 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7036 683378 9 137700749 T G 663910 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7037 674564 9 137700943 C T 664015 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7038 683381 9 137701391 G A 664237 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7039 683384 9 137701802 A G 664017 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7040 255078 9 137702059 G C 253438 Benign not_specified 0.23835 0.14376 0.2472 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7041 255081 9 137702200 G C 253442 Benign not_specified 0.48698 . 0.45288 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7042 255082 9 137704414 G A 253443 Benign not_specified 0.11379 0.10189 0.10503 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7043 136881 9 137704433 G A 140584 Benign not_specified|not_provided 0.11387 0.1082 0.10523 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7044 683385 9 137706385 A G 664023 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7045 683386 9 137708121 G A 664255 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7046 439526 9 137709780 T C 433431 Benign Ehlers-Danlos_syndrome,_classic_type . . 0.58227 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7047 136900 9 137711997 G C 140603 Benign Ehlers-Danlos_syndrome,_type_7A|not_specified|... 0.42519 . 0.40815 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7048 683387 9 137712327 C G 664266 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7049 683393 9 137712390 T C 663949 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7050 255089 9 137714027 T C 253450 Benign not_specified 0.66723 0.56585 0.60943 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7051 674275 9 137715450 C T 663508 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7052 672278 9 137716227 A G 664054 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7053 255092 9 137717610 T C 253454 Benign not_specified|not_provided 0.71198 0.7258 0.74601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7054 672279 9 137717869 C T 664058 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7055 672281 9 137722170 G A 664291 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7056 668951 9 137722311 C T 664072 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7057 365741 9 137734232 C T 311762 Benign Ehlers-Danlos_syndrome,_type_7A . . 0.7514 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7058 365746 9 137734416 C T 317325 Benign Ehlers-Danlos_syndrome,_type_7A . . 0.34944 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7059 365760 9 137734882 C A 307524 Benign Ehlers-Danlos_syndrome,_type_7A|Ehlers-Danlos_... . . 0.32528 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7060 365764 9 137735017 T TAGGG 307541 Benign Ehlers-Danlos_syndrome,_type_7A . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7061 365768 9 137735232 GCTAT G 311778 Benign Ehlers-Danlos_syndrome,_type_7A . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7062 365769 9 137735274 A T 317776 Benign Ehlers-Danlos_syndrome,_type_7A . . 0.60643 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7063 365791 9 137736544 G T 307555 Benign Ehlers-Danlos_syndrome,_type_7A . . 0.75739 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7064 365795 9 137736650 T C 317385 Benign Ehlers-Danlos_syndrome,_type_7A . . 0.57608 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7065 682078 9 138645716 C T 664012 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7066 682095 9 138656644 C T 664019 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7067 674495 9 138656717 G T 664034 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7068 682099 9 138656783 T C 664039 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7069 682103 9 138656838 A G 664103 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7070 261360 9 138656862 G A 253461 Benign not_specified 0.02647 0.02262 0.02236 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7071 261361 9 138657053 T G 253462 Benign not_specified 0.23958 0.21758 0.20787 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7072 674496 9 138657109 A G 664104 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7073 682105 9 138657171 T C 664323 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7074 682121 9 138657635 A G 664108 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7075 682123 9 138657687 G A 664046 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7076 682126 9 138660237 G A 664114 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7077 129353 9 138662273 G A 134799 Benign Seizures|not_specified 0.29668 0.26797 0.35543 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7078 194782 9 138662309 A G 191945 Benign not_specified 0.72808 0.71263 0.74421 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7079 674497 9 138662391 G A 664137 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7080 682122 9 138662465 G T 663576 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7081 682124 9 138662661 G A 663581 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7082 682129 9 138663179 A G 663607 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7083 674514 9 138664522 G A 664154 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7084 682136 9 138664851 G A 664362 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7085 674515 9 138664967 C T 664109 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7086 671967 9 138666829 C T 664161 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7087 671968 9 138666847 T C 664112 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7088 682422 9 138666939 T C 664163 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7089 682425 9 138666972 G A 664365 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7090 682427 9 138667320 T C 663610 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7091 682428 9 138667409 A G 664169 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7092 129357 9 138669261 G A 134803 Benign Seizures|not_specified|not_provided 0.63494 0.6687 0.65216 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7093 365828 9 139258462 A G 311847 Benign Familial_Candidiasis,_Recessive . 0.3204 0.25419 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7094 365857 9 139266405 G A 307609 Benign not_specified|Familial_Candidiasis,_Recessive 0.37429 0.40223 0.36621 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7095 365858 9 139266496 C T 317914 Benign not_specified|Familial_Candidiasis,_Recessive 0.37306 0.40195 0.36661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7096 402489 9 139272058 A G 389800 Benign not_specified 0.37113 0.40881 0.36941 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7097 402490 9 139272502 T C 389882 Benign not_specified 0.31558 . 0.32788 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7098 365868 9 139323311 T C 311884 Benign Joubert_syndrome . . 0.36582 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7099 365873 9 139323424 T C 317479 Benign Joubert_syndrome . . 0.3776 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7100 365875 9 139323799 A G 311894 Benign Joubert_syndrome . . 0.38279 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7101 365877 9 139324029 C T 317952 Likely_benign Joubert_syndrome . . 0.14836 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7102 129272 9 139324737 C A 134718 Benign/Likely_benign Joubert_syndrome|not_specified|not_provided 0.21675 0.20473 0.17392 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7103 261197 9 139326253 T C 253468 Benign not_specified 0.24529 0.0075 0.26717 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7104 129266 9 139327034 A G 134712 Benign Joubert_syndrome|not_specified|not_provided 0.40721 0.40043 0.3778 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7105 675038 9 139327154 C T 663631 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7106 129265 9 139327439 A G 134711 Benign Joubert_syndrome|not_specified|not_provided 0.43601 0.4194 0.3784 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7107 215526 9 139327599 G GCGCCCACCCCTCCAGCCA 212658 Benign/Likely_benign Joubert_syndrome|not_specified|not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7108 675037 9 139328369 T C 664130 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7109 681966 9 139328722 G T 663637 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7110 261203 9 139333049 GCCCT G 253479 Benign Joubert_syndrome|not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7111 678142 9 139400406 C T 664218 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7112 678564 9 139400904 C T 664219 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7113 678563 9 139401504 G A 664417 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7114 678562 9 139401577 C G 664220 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7115 678559 9 139402663 T C 664419 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7116 678557 9 139402908 T C 664425 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7117 678016 9 139402959 A G 664432 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7118 678556 9 139403102 T C 664160 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7119 678141 9 139403268 T C 664437 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7120 678084 9 139403554 T C 664167 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7121 281108 9 139405261 C T 265345 Benign Aortic_valve_disorder|not_specified|Cardiovasc... 0.45492 . 0.58546 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7122 678554 9 139405361 A G 663646 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7123 678140 9 139405501 A G 664182 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7124 677898 9 139407452 C T 663651 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7125 678133 9 139408756 A G 663652 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7126 678549 9 139408892 C T 664191 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7127 383780 9 139410424 A G 372816 Benign not_specified 0.8733 0.87041 0.88399 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7128 678547 9 139410589 A G 664256 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7129 678543 9 139440390 A G 663684 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7130 365901 9 139567687 G A 317995 Benign Congenital_generalized_lipodystrophy . . 0.33407 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7131 365903 9 139567692 C T 318011 Uncertain_significance Congenital_generalized_lipodystrophy . . 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7132 365904 9 139567762 G C 307661 Benign Congenital_generalized_lipodystrophy . . 0.80332 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7133 365913 9 139568047 G A 311915 Benign Congenital_generalized_lipodystrophy . . 0.80052 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7134 129574 9 139981627 A G 135020 Benign History_of_neurodevelopmental_disorder|not_spe... 0.91416 0.97588 0.90535 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7135 129573 9 140001978 C A 135019 Benign History_of_neurodevelopmental_disorder|not_spe... 0.27879 0.2838 0.17832 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7136 129577 9 140002989 T C 135023 Benign History_of_neurodevelopmental_disorder|not_spe... 0.81916 . 0.8099 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7137 388019 9 140040364 G A 370291 Benign/Likely_benign not_specified|not_provided 0.00054 0.00237 0.0002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7138 683402 9 140040617 G C 664484 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7139 129179 9 140055876 G A 134625 Benign not_specified|not_provided 0.94681 0.93558 0.93351 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7140 681625 9 140056070 T C 664281 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7141 281214 9 140128085 T C 265451 Benign Autosomal_recessive_hypophosphatemic_bone_dise... 0.41366 0.44449 0.45567 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7142 194277 9 140130606 A T 191440 Benign not_specified 0.88692 0.88308 0.94609 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7143 194276 9 140130882 A C 191439 Benign not_specified|not_provided 0.3774 . 0.32907 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7144 65724 9 140638461 T C 76632 Benign Kleefstra_syndrome_1|History_of_neurodevelopme... 0.50384 0.39696 0.46885 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7145 96142 9 140652476 G T 102036 Benign Kleefstra_syndrome_1|not_specified 0.1597 0.06224 0.13698 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7146 802555 9 140777306 C G 790882 Benign NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7147 771737 9 140917904 G C 700932 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7148 300213 10 6052841 C A 321772 Likely_benign Interleukin_2_receptor,_alpha,_deficiency_of . . 0.0599 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7149 300224 10 6053374 A G 322463 Benign Interleukin_2_receptor,_alpha,_deficiency_of . . 0.35483 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7150 300234 10 6053866 C T 322478 Likely_benign Interleukin_2_receptor,_alpha,_deficiency_of . . 0.09026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7151 300256 10 6063508 G A 321833 Benign Interleukin_2_receptor,_alpha,_deficiency_of 0.03998 0.06014 0.0603 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7152 300258 10 6066195 T A 322504 Benign Interleukin_2_receptor,_alpha,_deficiency_of 0.29686 0.36075 0.32029 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7153 300259 10 6066200 C G 321841 Benign Interleukin_2_receptor,_alpha,_deficiency_of|n... 0.17538 0.21261 0.17931 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7154 301109 10 8097368 G A 322770 Benign Barakat_syndrome . . 0.49022 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7155 301133 10 8116241 G GA 322826 Uncertain_significance Barakat_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7156 301140 10 8116598 G A 323466 Benign Barakat_syndrome . . 0.86502 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7157 299207 10 13142251 G A 314580 Benign Primary_open_angle_glaucoma|Amyotrophic_Latera... . . 0.17312 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7158 96022 10 13151224 G A 101916 Benign Primary_open_angle_glaucoma|not_specified|Amyo... 0.20129 . 0.17832 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7159 197846 10 13158262 C T 195007 Benign Primary_open_angle_glaucoma|not_specified|Amyo... 0.81893 0.81556 0.80391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7160 802562 10 13166076 A G 790945 Benign Primary_open_angle_glaucoma . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7161 368895 10 13180287 T G 353124 Benign Primary_open_angle_glaucoma|Amyotrophic_Latera... . . 0.17911 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7162 299239 10 13320111 GT G 309744 Benign Phytanic_acid_storage_disease . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7163 299240 10 13320236 C T 309747 Benign Phytanic_acid_storage_disease 0.28625 . 0.23642 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7164 95349 10 13330402 T C 101248 Benign Phytanic_acid_storage_disease|not_specified|no... 0.29994 0.23943 0.23902 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7165 129891 10 13337588 G A 135337 Benign Phytanic_acid_storage_disease|not_specified|no... 0.96593 0.99078 0.97244 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7166 7582 10 13340236 G A 22621 Benign/Likely_benign Phytanic_acid_storage_disease|not_specified|no... . 0.15038 0.09764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7167 299305 10 14950164 CTT C 309805 Uncertain_significance Histiocytic_medullary_reticulosis . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7168 35999 10 14976727 G C 44663 Benign/Likely_benign Severe_combined_immunodeficiency_disease|Sever... 0.09119 0.09054 0.11681 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7169 299373 10 16882518 T C 321422 Benign Megaloblastic_anemia|not_provided 0.71482 0.71697 0.63598 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7170 299388 10 16918997 T C 321438 Likely_benign Megaloblastic_anemia 0.13847 0.10753 0.11701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7171 299389 10 16919052 T C 320825 Benign/Likely_benign Megaloblastic_anemia|Megaloblastic_anemia_due_... 0.07973 0.09112 0.0629 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7172 439578 10 16930279 A T 433470 Benign Megaloblastic_anemia_due_to_inborn_errors_of_m... . . 0.77137 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7173 299409 10 16943371 G C 321443 Benign Megaloblastic_anemia|not_provided 0.99992 0.99998 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7174 299437 10 16967401 C T 309899 Benign Megaloblastic_anemia|not_provided 0.99962 0.99581 0.99341 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7175 299438 10 16967586 C G 309900 Likely_benign Megaloblastic_anemia 0.12471 0.13069 0.13459 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7176 299444 10 16975078 G A 314859 Benign Megaloblastic_anemia 0.17138 0.20648 0.19689 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7177 299453 10 16979661 T C 320918 Benign Megaloblastic_anemia|not_specified 0.51084 0.46253 0.54133 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7178 299462 10 16982244 G T 309928 Benign Megaloblastic_anemia 0.17008 0.2003 0.23043 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7179 299479 10 17024503 G A 309938 Benign Megaloblastic_anemia|not_provided 0.74873 0.77289 0.61342 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7180 299480 10 17024615 A T 314919 Benign Megaloblastic_anemia|not_provided 0.74881 0.77321 0.61382 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7181 439576 10 17110474 C T 433468 Benign Megaloblastic_anemia_due_to_inborn_errors_of_m... . . 0.91454 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7182 299498 10 17110595 G A 320977 Benign Megaloblastic_anemia 0.8483 0.85679 0.91114 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7183 299499 10 17110598 T G 320980 Benign/Likely_benign Megaloblastic_anemia|Megaloblastic_anemia_due_... 0.01715 0.02491 0.02995 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7184 299527 10 17147521 G T 321564 Benign Megaloblastic_anemia 0.58757 . 0.53434 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7185 299533 10 17152994 G A 309965 Benign Megaloblastic_anemia|not_provided 0.19706 0.21005 0.21486 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7186 299538 10 17156151 A G 321032 Benign Megaloblastic_anemia|Megaloblastic_anemia_due_... 0.69845 0.72783 0.79932 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7187 768350 10 17659131 C A 701276 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7188 674367 10 18429407 C A 664690 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7189 368897 10 18629603 G A 353126 Likely_benign Brugada_syndrome . . 0.42812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7190 671828 10 18690668 A G 664956 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7191 263262 10 18789724 T G 253715 Benign Brugada_syndrome_4|not_specified 0.32562 . 0.22983 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7192 673267 10 18790142 G T 664093 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7193 671830 10 18807057 G A 664098 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7194 683287 10 18826813 T C 664673 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7195 683298 10 18827828 C T 664710 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7196 683299 10 18827886 A C 664712 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7197 136649 10 18828635 T G 140352 Benign/Likely_benign Brugada_syndrome|not_specified|Cardiovascular_... 0.15159 . 0.09704 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7198 215549 10 18828663 G T 212763 Benign/Likely_benign Brugada_syndrome|Brugada_syndrome_4|not_specified . 0.78814 0.77436 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7199 299576 10 18828721 C CAA 321622 Likely_benign Brugada_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7200 299584 10 18829113 G GCTGA 321638 Likely_benign Brugada_syndrome . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7201 299611 10 18829981 A ATGTT 310034 Likely_benign Brugada_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7202 299616 10 18830318 T C 321665 Likely_benign Brugada_syndrome . . 0.0597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7203 299618 10 18830618 C T 321097 Likely_benign Brugada_syndrome . . 0.40555 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7204 299620 10 18830669 T C 321105 Likely_benign Brugada_syndrome . . 0.76018 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7205 769362 10 19425531 A G 701281 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7206 678109 10 21075084 G C 664682 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7207 671440 10 21076100 C A 664714 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7208 683677 10 21097159 A T 664122 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7209 672914 10 21097769 A G 664689 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7210 683676 10 21101423 T C 664693 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7211 683673 10 21103274 C A 664993 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7212 671174 10 21104694 A T 664700 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7213 672883 10 21108247 C T 664995 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7214 671324 10 21108706 T C 664718 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7215 673849 10 21111924 A G 665002 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7216 671172 10 21115332 T C 665003 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7217 45484 10 21120116 A G 54650 Benign not_specified 0.43019 0.38931 0.46905 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7218 671323 10 21129588 T C 665022 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7219 45475 10 21134282 C G 54641 Benign not_specified|Cardiovascular_phenotype 0.06098 . 0.03854 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7220 45472 10 21139389 T C 54638 Benign not_specified|Cardiovascular_phenotype 0.06113 0.06504 0.03874 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7221 45471 10 21141469 T C 54637 Benign not_specified|Cardiovascular_phenotype 0.99277 . 0.95248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7222 683662 10 21141852 C G 664726 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7223 678539 10 21147520 T C 664732 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7224 669638 10 21147611 A C 664737 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7225 683671 10 21149015 C G 665031 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7226 672881 10 21157492 T C 664151 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7227 671153 10 21176945 G A 665050 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7228 45495 10 21177143 G GA 54661 Benign Primary_dilated_cardiomyopathy|Cardiomyopathy|... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7229 678610 10 21178530 A G 665054 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7230 672880 10 21178574 G A 664156 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7231 683660 10 21179160 A T 664747 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7232 672879 10 21185821 A C 664159 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7233 683670 10 21186738 G A 665064 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7234 683669 10 21186862 G A 664752 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7235 674346 10 21461232 G A 665068 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7236 164775 10 21461410 G GA 174922 not_provided not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7237 444138 10 23466734 G A 437762 Benign Diabetes_mellitus_type_2 . . 0.45028 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7238 444143 10 23478779 T G 437764 Benign Diabetes_mellitus_type_2 . . 0.21146 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7239 130055 10 23482635 T C 135501 Benign Permanent_neonatal_diabetes_mellitus|not_speci... 0.51076 . 0.6244 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7240 299628 10 23482850 G A 321688 Benign Permanent_neonatal_diabetes_mellitus 0.05859 0.12766 0.21286 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7241 444145 10 23544272 T C 437766 Benign Diabetes_mellitus_type_2 . . 0.69469 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7242 444144 10 23572382 A C 437768 Benign Diabetes_mellitus_type_2 . . 0.71825 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7243 444141 10 23579424 G A 437769 Benign Diabetes_mellitus_type_2 . . 0.1875 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7244 682722 10 26240944 C T 664166 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7245 45791 10 26241025 T A 54956 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.094 0.05697 0.07408 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7246 164604 10 26286066 TTA T 174648 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7247 45817 10 26286159 G T 54982 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.10963 . 0.09145 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7248 45823 10 26355906 G A 54988 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.48839 0.48497 0.39357 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7249 45792 10 26355992 A G 54957 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.68253 0.67859 0.66274 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7250 260810 10 26357747 CG CA,TA 253719 Benign not_specified . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
7251 45798 10 26357820 C T 54963 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.48801 0.48439 0.39637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7252 45801 10 26385578 G A 54966 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.10585 0.08835 0.05731 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7253 45804 10 26446312 G A 54969 Benign/Likely_benign Deafness,_autosomal_recessive_30|not_specified... 0.52107 0.5064 0.45527 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7254 45807 10 26457637 T C 54972 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.13625 0.09708 0.08766 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7255 45811 10 26463130 C A 54976 Benign/Likely_benign Deafness,_autosomal_recessive_30|not_specified... 0.56274 0.59868 0.60104 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7256 260811 10 26465792 T C 253720 Benign not_specified 0.10595 0.08745 0.05751 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7257 669538 10 26986932 T C 664761 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7258 669539 10 26987060 G C 665072 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7259 671582 10 26990849 T G 664177 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7260 683440 10 26993390 T A 665074 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7261 671583 10 26993955 C A 664184 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7262 671584 10 26993961 G A 665086 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7263 683442 10 26994650 A G 664770 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7264 671585 10 26998358 C T 664187 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7265 683449 10 27024710 G A 664203 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7266 683450 10 27031214 A G 665099 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7267 299704 10 27035478 C T 315186 Likely_benign Coenzyme_Q10_deficiency,_primary . . 0.08986 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7268 260461 10 27326999 T C 253730 Benign not_specified 0.82887 0.84081 0.86522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7269 260472 10 27389197 T C 253739 Benign/Likely_benign Thrombocytopenia|not_specified 0.89346 0.89774 0.94469 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7270 299785 10 27444303 G A 315284 Likely_benign Thrombocytopenia . . 0.39717 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7271 262111 10 27444344 T G 253744 Benign/Likely_benign Thrombocytopenia|not_specified 0.84066 . 0.85523 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7272 262126 10 27454111 A T 253749 Benign/Likely_benign Thrombocytopenia|not_specified 0.61748 0.5924 0.50479 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7273 262127 10 27456003 G A 253750 Benign not_specified 0.99316 0.99791 0.99101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7274 262115 10 27459670 C T 253752 Benign/Likely_benign Thrombocytopenia|not_specified 0.61625 0.59108 0.50459 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7275 262122 10 27475444 T C 253758 Benign/Likely_benign Thrombocytopenia|not_specified 0.62548 0.5971 0.51098 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7276 262110 10 27475494 T C 253759 Benign/Likely_benign Thrombocytopenia|not_specified 0.50092 0.55878 0.39996 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7277 299806 10 27475693 T C 310197 Likely_benign Thrombocytopenia . . 0.50958 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7278 668606 10 27815665 A G 665104 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7279 684031 10 27826517 C T 664789 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7280 299879 10 27830783 G GT 315390 Benign Warburg_micro_syndrome . 0.76505 0.73622 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7281 260994 10 28228865 A G 253760 Benign not_specified 0.50807 0.53635 0.53315 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7282 718255 10 28971169 G A 723906 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7283 671782 10 30605410 G A 664228 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7284 684083 10 30611774 T G 664771 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7285 683223 10 30615190 C T 664796 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7286 138281 10 30629136 G A 141984 Benign Ataxia,_spastic,_4,_autosomal_recessive|not_sp... 0.26918 0.26018 0.22564 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7287 129624 10 30629226 G A 135070 Benign Ataxia,_spastic,_4,_autosomal_recessive|not_sp... 0.26226 0.24999 0.21845 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7288 683222 10 30629549 G T 664243 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7289 684266 10 30638597 C A 664245 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7290 771884 10 43315692 C T 701339 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7291 368898 10 43572507 A G 353127 Benign Pheochromocytoma|Multiple_endocrine_neoplasia|... . . 0.73682 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7292 378478 10 43581980 C T 371670 Benign not_specified . . 0.74521 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7293 13952 10 43582056 T C 28991 Benign,_risk_factor Hirschsprung_disease|Hirschsprung_disease_1|no... . . 0.75739 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7294 695195 10 43582273 A C 685271 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7295 677050 10 43595781 G T 664781 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7296 167589 10 43595968 A G 174942 Benign not_specified|not_provided . 0.73653 0.75359 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7297 677051 10 43600864 A T 664254 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7298 95995 10 43606687 A G 101890 Benign Pheochromocytoma|Multiple_endocrine_neoplasia|... 0.74858 0.70607 0.77516 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7299 677053 10 43611865 T C 665137 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7300 261396 10 43612226 C T 253767 Benign not_specified 0.20369 0.21445 0.12061 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7301 167590 10 43613843 G T 175112 Benign not_specified|not_provided 0.80263 0.74191 0.71246 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7302 165056 10 43622217 T C 174666 Benign not_specified 0.85333 0.8031 0.75499 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7303 299934 10 43625223 G A 315412 Benign Pheochromocytoma|Multiple_endocrine_neoplasia|... . . 0.7472 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7304 768356 10 47087078 G T 701353 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7305 768357 10 47087474 C T 701352 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7306 768359 10 47087501 C T 701350 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7307 768360 10 47087680 C T 701349 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7308 768361 10 47087731 C T 701348 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7309 768362 10 47087830 G A 701347 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7310 674697 10 48414570 A G 664801 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7311 300029 10 50666628 C CA 322302 Uncertain_significance Macular_degeneration|Cockayne_syndrome|Cerebro... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7312 129020 10 50667105 T C 134466 Benign Macular_degeneration|Cockayne_syndrome|not_spe... 0.18914 0.21784 0.17891 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7313 129017 10 50678369 T C 134463 Benign Macular_degeneration|Cockayne_syndrome|not_spe... 0.19668 0.22033 0.1847 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7314 129016 10 50678717 T C 134462 Benign Macular_degeneration|Cockayne_syndrome|not_spe... 0.19091 0.21856 0.18251 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7315 255163 10 50691360 T C 253773 Benign not_specified 0.8493 0.90711 0.88758 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7316 190153 10 50701156 G A 188007 Benign Macular_degeneration|Cockayne_syndrome|not_spe... 0.83223 . 0.877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7317 788361 10 50724408 G A 712389 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7318 129014 10 50740876 G C 134460 Benign Macular_degeneration|Cockayne_syndrome|not_spe... 0.62756 0.69464 0.59086 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7319 802572 10 50820345 C A 790963 Benign Familial_infantile_myasthenia . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7320 261325 10 50822192 G C 253774 Benign not_specified . 0.74457 0.4409 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7321 193433 10 50822226 T G 190597 Benign not_specified|not_provided . 0.99218 0.97185 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7322 261337 10 50828506 G A 253779 Benign/Likely_benign not_specified|not_provided 0.97194 0.98609 0.96625 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7323 668072 10 50829828 A G 664295 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7324 678934 10 50835967 C A 664296 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7325 199157 10 50856652 G A 196316 Benign Familial_infantile_myasthenia|not_specified 0.96102 0.98962 0.96645 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7326 678351 10 50857849 C T 665158 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7327 678352 10 50857890 T C 664303 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7328 668073 10 50859629 T G 664848 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7329 681297 10 50860229 C G 665163 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7330 668074 10 50860383 T C 664855 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7331 128719 10 50863147 T C 134168 Benign not_specified|not_provided 0.83984 . 0.79353 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7332 678355 10 50863565 C T 664304 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7333 679123 10 50863623 A G 664859 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7334 680099 10 50870500 G A 664865 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7335 220801 10 52913020 G A 221980 Benign Aortic_aneurysm,_familial_thoracic_8|not_speci... 0.01661 0.01681 0.00859 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7336 674711 10 53667443 C T 664809 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7337 674712 10 53667476 G A 664811 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7338 683715 10 53667586 C A 664314 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7339 683717 10 53813948 A G 664335 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7340 683720 10 53813953 A C 664339 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7341 381195 10 53814229 G T 371297 Benign not_specified 0.31532 0.34825 0.26917 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7342 674738 10 53814383 C T 664341 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7343 683740 10 53893305 C A 664882 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7344 678086 10 53893888 G A 664356 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7345 677989 10 54011665 A G 664367 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7346 674715 10 54031443 T C 664840 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7347 683723 10 54048234 G A 664849 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7348 674728 10 54050079 G A 664852 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7349 300109 10 54525509 A C 321599 Likely_benign Mannose-binding_protein_deficiency . . 0.33886 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7350 300110 10 54525678 T G 321600 Likely_benign Mannose-binding_protein_deficiency . . 0.33906 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7351 300113 10 54525849 T C 315587 Likely_benign Mannose-binding_protein_deficiency . . 0.33866 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7352 300114 10 54525857 C A 321603 Likely_benign Mannose-binding_protein_deficiency . . 0.27316 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7353 300124 10 54526206 C T 322359 Likely_benign Mannose-binding_protein_deficiency . . 0.45188 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7354 300131 10 54526622 A G 322365 Likely_benign Mannose-binding_protein_deficiency . . 0.27696 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7355 300148 10 54528266 G C 315631 Benign/Likely_benign Mannose-binding_protein_deficiency|not_specified 0.77061 0.80414 0.73882 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7356 368900 10 54531461 G A 353129 Likely_benign Mannose-binding_protein_deficiency . . 0.28335 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7357 227837 10 55566671 G A 229796 Conflicting_interpretations_of_pathogenicity not_specified|not_provided 0.00146 0.0007 0.0006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7358 44035 10 55568972 T G 53203 Benign not_specified 0.14864 0.24887 0.29812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7359 670409 10 55587034 A G 664381 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7360 678866 10 55588137 G A 665210 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7361 670408 10 55588484 G T 664861 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7362 670392 10 55588495 A G 664897 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7363 678867 10 55590850 G A 664864 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7364 46476 10 55591313 G A 55641 Benign not_specified 0.35266 0.43309 0.4403 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7365 678862 10 55617177 T C 664904 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7366 46468 10 55626630 G GA 55633 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7367 678863 10 55626750 G A 664916 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7368 674390 10 55663198 A C 664867 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7369 674389 10 55663202 T C 664869 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7370 678861 10 55700973 T C 664920 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7371 678860 10 55700979 T G 664872 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7372 667956 10 55701068 T C 664925 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7373 262149 10 55719652 C T 253789 Benign not_specified|not_provided 0.67907 0.73626 0.73403 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7374 678859 10 55721761 A G 664874 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7375 678857 10 55721844 G GT 664876 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7376 678856 10 55755237 C T 664926 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7377 46456 10 55755491 C T 55621 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.21113 0.25623 0.3153 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7378 678855 10 55779760 C A 664397 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7379 262147 10 55779915 G A 253791 Benign not_specified|not_provided 0.59942 0.63673 0.46026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7380 678854 10 55783146 A T 664895 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7381 678853 10 55838950 A G 665213 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7382 678849 10 55942965 A G 664944 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7383 262145 10 55943184 T C 253792 Benign not_specified|not_provided 0.78533 . 0.60803 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7384 670389 10 55973589 C T 665224 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7385 670388 10 55973889 G A 664906 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7386 667953 10 55974067 T A 664917 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7387 678842 10 55996408 A T 664922 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7388 670387 10 55996761 C T 665225 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7389 675473 10 55996785 G A 664945 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7390 673903 10 56076760 T C 664924 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7391 46511 10 56077209 G A 55676 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.7402 0.66044 0.60383 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7392 667936 10 56089068 G C 664931 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7393 678845 10 56089131 A G 664935 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7394 678844 10 56089166 C T 664954 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7395 678843 10 56089223 A G 664937 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7396 667935 10 56089718 C T 664958 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7397 667934 10 56129286 C A 665228 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7398 684177 10 60145079 A G 656003 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7399 684179 10 60145597 G C 664961 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7400 684187 10 60147784 G A 664966 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7401 684189 10 60148692 A G 664420 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7402 773235 10 60573675 G A 701383 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7403 802577 10 61956386 G GA 790968 Benign Mental_retardation,_autosomal_recessive_37 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7404 128362 10 61965625 A G 133811 Likely_benign not_specified 0.18176 0.15961 0.15156 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7405 285766 10 64573771 C T 270003 Benign not_specified|not_provided 0.98216 0.99529 0.98602 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7406 680031 10 64575410 G T 664947 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7407 670506 10 64576317 G C 664430 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7408 460222 10 65225244 GA CG 460152 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7409 240864 10 68139039 G A 240825 Benign Arrhythmogenic_right_ventricular_dysplasia,_fa... 0.01153 0.01183 0.00499 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7410 516742 10 69366602 T C 502840 Benign not_specified 0.45617 0.38108 0.52995 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7411 673049 10 69902549 T C 664442 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7412 683653 10 69909513 C T 664998 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7413 678619 10 69909562 C T 664977 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7414 683654 10 69917921 C T 665257 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7415 683655 10 69917925 T C 664986 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7416 671143 10 69918602 A G 664988 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7417 678537 10 69921733 T A 664456 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7418 672832 10 69925789 C T 665259 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7419 31795 10 69926097 T C 40455 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.57866 0.62267 0.48263 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7420 31803 10 69926319 C A 40463 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.1261 0.15649 0.11661 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7421 31796 10 69926325 C T 40456 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.17231 0.18091 0.15775 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7422 683656 10 69926687 G A 665007 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7423 138419 10 69935235 T C 142122 Benign Dilated_cardiomyopathy_1KK|not_specified 0.98216 0.99385 0.98243 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7424 669866 10 69948326 T C 665028 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7425 31799 10 69948844 T C 40459 Benign not_specified|not_provided 0.98547 0.99558 0.98463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7426 673051 10 69949057 T G 665035 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7427 672838 10 69953929 A G 665042 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7428 672839 10 69953942 G A 665270 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7429 671506 10 69954301 C T 665278 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7430 672869 10 69954451 A G 664468 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7431 671147 10 69955140 T A 664470 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7432 668993 10 69956848 T C 665288 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7433 671150 10 69957375 C T 664481 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7434 668995 10 69957554 C T 665046 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7435 672871 10 69958975 G T 665047 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7436 671151 10 69959097 G T 665052 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7437 678015 10 69959567 C A 664490 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7438 668996 10 69959624 A G 665049 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7439 683658 10 69961270 C T 665067 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7440 672875 10 69961405 A G 665306 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7441 672876 10 69961408 C T 665070 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7442 672877 10 69961470 A G 664500 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7443 671152 10 69961501 A G 665056 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7444 669011 10 69962062 T C 665059 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7445 669884 10 69966251 G A 665310 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7446 672878 10 69966392 T G 665315 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7447 669725 10 70190695 T G 665088 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7448 257342 10 70191631 C T 253799 Benign not_specified|not_provided 0.03844 0.0424 0.02117 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7449 669723 10 70196580 T C 665323 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7450 669720 10 70197186 T A 665093 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7451 669719 10 70204373 T C 665100 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7452 669716 10 70205152 G A 665089 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7453 683742 10 70206390 T C 665094 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7454 669713 10 70209582 ATCGCTTGAACCCGAGAG A 665103 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7455 257346 10 70225504 G T 253801 Benign not_specified|not_provided 0.27582 0.28675 0.36641 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7456 257345 10 70227964 C T 253802 Benign not_specified|not_provided 0.07007 0.13114 0.13918 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7457 669881 10 70228249 T C 665108 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7458 669863 10 70231333 C G 664520 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7459 676250 10 70231412 G A 665107 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7460 1719 10 70641860 T C 16758 risk_factor Preeclampsia/eclampsia_4 . 0.62314 0.61242 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7461 1720 10 70645376 A C 16759 Conflicting_interpretations_of_pathogenicity Preeclampsia/eclampsia_4 . 0.21221 0.14417 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7462 682816 10 70765250 G A 665132 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7463 671932 10 70775001 T C 664521 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7464 682818 10 70775081 T C 665114 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7465 439787 10 71103597 C G 433604 Benign not_specified 0.37621 0.32376 0.28335 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7466 255483 10 71142420 G A 253803 Benign not_specified 0.82008 0.78316 0.77875 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7467 129765 10 71332204 A G 135211 Benign not_specified 0.58775 0.58598 0.42991 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7468 95882 10 72195439 T C 101779 Benign Holoprosencephaly_sequence|Heterotaxia|Viscera... 0.5386 0.61715 0.66574 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7469 300324 10 72357713 C T 315856 Benign Familial_hemophagocytic_lymphohistiocytosis . . 0.57788 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7470 300325 10 72357720 G A 310615 Likely_benign Familial_hemophagocytic_lymphohistiocytosis . . 0.09744 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7471 257409 10 72358577 G A 253807 Benign Familial_hemophagocytic_lymphohistiocytosis|He... 0.66239 0.63565 0.69589 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7472 257408 10 72358655 G A 253808 Benign/Likely_benign Familial_hemophagocytic_lymphohistiocytosis|no... 0.14785 0.15821 0.11262 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7473 691402 10 72536936 A G 679096 Uncertain_significance Hirschsprung_disease . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7474 300345 10 72643671 C T 322610 Benign BH4-Deficient_Hyperphenylalaninemia 0.72831 0.77682 0.76538 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7475 300350 10 72648336 C T 322615 Likely_benign BH4-Deficient_Hyperphenylalaninemia . 1 0.124 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7476 300354 10 72648422 G T 322628 Benign BH4-Deficient_Hyperphenylalaninemia . . 0.38099 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7477 130342 10 73082563 A G 135789 Benign Histiocytosis-lymphadenopathy_plus_syndrome|no... 0.48739 0.42466 0.46925 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7478 130340 10 73104056 A G 135787 Benign Histiocytosis-lymphadenopathy_plus_syndrome|no... 0.87944 0.86738 0.8143 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7479 130341 10 73111408 C T 135788 Benign,_drug_response Histiocytosis-lymphadenopathy_plus_syndrome|no... 0.61825 0.63843 0.47983 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7480 300363 10 73115941 TG CA 321945 Conflicting_interpretations_of_pathogenicity Histiocytosis-lymphadenopathy_plus_syndrome|no... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7481 130347 10 73121913 A G 135794 Benign Histiocytosis-lymphadenopathy_plus_syndrome|no... 0.89228 0.82462 0.79273 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7482 130337 10 73121945 T C 135784 Benign Histiocytosis-lymphadenopathy_plus_syndrome|no... 0.8666 0.83018 0.75379 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7483 300394 10 73157033 C CCGAGG 322651 Conflicting_interpretations_of_pathogenicity Retinitis_pigmentosa-deafness_syndrome|not_spe... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7484 680498 10 73199333 A G 665120 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7485 670320 10 73199501 C A 664523 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7486 678763 10 73206287 C T 665125 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7487 678765 10 73269714 T C 665126 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7488 45928 10 73270906 T C 55093 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.7496 0.67207 0.73463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7489 45940 10 73270982 G A 55105 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.73965 0.6691 0.72524 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7490 261548 10 73270995 A G 253816 Benign not_specified|not_provided 0.74355 . 0.73123 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7491 680499 10 73337417 T C 665128 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7492 670322 10 73377314 C G 665343 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7493 45872 10 73434888 G C 55037 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.12119 0.1998 0.1853 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7494 680500 10 73436872 T A 664529 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7495 678767 10 73437020 A G 665130 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7496 678768 10 73437560 T C 665143 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7497 261543 10 73439101 T C 253817 Benign not_specified|not_provided 0.92842 0.9624 0.91514 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7498 678782 10 73447555 C T 665371 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7499 678769 10 73454151 C T 665145 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7500 678770 10 73454256 T C 665150 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7501 760950 10 73454444 A C 775660 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7502 760964 10 73454483 A G 775543 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7503 678771 10 73454935 C G 665140 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7504 678772 10 73465033 C T 665141 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7505 45937 10 73492079 A G 55102 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.8129 0.81593 0.78215 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7506 670326 10 73494159 T A 665149 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7507 678773 10 73494229 T C 665156 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7508 670327 10 73498644 A G 665376 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7509 680505 10 73499068 T C 664534 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7510 680506 10 73499827 G A 665167 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7511 678783 10 73500861 C T 665151 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7512 678784 10 73501374 C T 664538 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7513 45955 10 73501556 G A 55120 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.74108 0.77525 0.72883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7514 802586 10 73520632 A C 790978 Benign Retinitis_pigmentosa-deafness_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7515 802587 10 73533177 A G 790979 Benign Retinitis_pigmentosa-deafness_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7516 45960 10 73537614 G A 55125 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.14097 0.17889 0.13219 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7517 680507 10 73548388 G A 665195 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7518 45997 10 73550117 C G 55162 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.41443 0.42914 0.34525 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7519 46058 10 73569749 C T 55223 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.116 0.11414 0.08087 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7520 46071 10 73571521 G A 55236 Benign/Likely_benign Galactosylceramide_beta-galactosidase_deficien... 0.11088 0.15087 0.07887 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7521 300489 10 73575384 A G 316044 Benign/Likely_benign Galactosylceramide_beta-galactosidase_deficien... . . 0.78934 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7522 680724 10 73583520 G C 665157 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7523 680723 10 73583948 TG T 665390 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7524 680721 10 73591149 T C 665400 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7525 680720 10 73593913 A G 665160 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7526 680719 10 73594499 G A 665405 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7527 300548 10 73724266 C G 322169 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.5613 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7528 300581 10 73768992 C A 310830 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.60963 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7529 300605 10 73769543 G A 322808 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.20208 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7530 300620 10 73770073 C T 322831 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.57648 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7531 300622 10 73770128 G A 322239 Likely_benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.08826 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7532 300630 10 73770578 A G 310887 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.57548 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7533 300632 10 73770651 T C 310890 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.59165 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7534 300641 10 73771282 C T 322245 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.24062 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7535 300660 10 73772161 G T 322890 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.61002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7536 300661 10 73772216 G A 316200 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.24022 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7537 300670 10 73772650 G C 322267 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.24022 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7538 300671 10 73772661 T A 322892 Benign Skeletal_dysplasia|Spondyloepiphyseal_dysplasi... . . 0.59165 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7539 667500 10 74168136 A G 665202 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7540 667499 10 74235232 T G 665416 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7541 559182 10 74268031 T C 549971 Benign not_provided 0.51904 0.57981 0.29792 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7542 667496 10 74284025 C T 665220 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7543 667495 10 74310651 G A 665221 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7544 300752 10 75673731 C T 322380 Benign Quebec_platelet_disorder 0.53967 0.45647 0.36102 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7545 300765 10 75676464 C T 322983 Benign Quebec_platelet_disorder . . 0.37161 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7546 300776 10 75677166 TG T 316340 Benign Quebec_platelet_disorder . . 0.36661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7547 684057 10 75757580 A G 664574 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7548 671287 10 75842152 G A 664587 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7549 669418 10 75842799 A AT 665185 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7550 498457 10 75843100 T A 489881 Benign not_specified|not_provided 0.63655 . 0.78075 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7551 678044 10 75853796 C T 664592 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7552 678031 10 75855842 C T 664605 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7553 671231 10 75863750 C T 665436 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7554 45595 10 75865065 G A 54761 Benign/Likely_benign Hirschsprung_disease|not_specified|Cardiovascu... 0.43872 0.47612 0.32468 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7555 672696 10 75866929 C A 664611 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7556 672697 10 75869065 T C 665218 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7557 45600 10 75871735 C G 54766 Benign/Likely_benign Dilated_cardiomyopathy_1W|not_specified|Cardio... 0.76242 0.67339 0.623 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7558 672698 10 75873892 C T 665241 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7559 300808 10 75878915 C CTA 316355 Likely_benign Dilated_Cardiomyopathy,_Dominant . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7560 300815 10 75879511 T A 323069 Likely_benign Dilated_Cardiomyopathy,_Dominant . . 0.6254 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7561 300835 10 75936611 C T 311044 Benign Hypermethioninemia 0.7736 0.68122 0.63019 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7562 802588 10 76349020 CT C 790980 Benign Hypermethioninemia_due_to_adenosine_kinase_def... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7563 300847 10 76468851 C T 316390 Benign Hypermethioninemia . . 0.85004 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7564 561579 10 76603482 C T 552622 Benign not_provided . . 0.44649 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7565 561577 10 76719679 C A 552623 Benign not_provided 0.34932 0.27422 0.47384 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7566 561580 10 76720040 T C 552624 Benign not_provided . . 0.1272 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7567 561581 10 76720081 C T 552625 Benign not_provided . . 0.1885 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7568 561578 10 76729632 C T 552626 Benign not_provided . . 0.47404 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7569 300927 10 78645067 G A 322540 Likely_benign Generalized_epilepsy_and_paroxysmal_dyskinesia . . 0.71466 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7570 300933 10 78645453 G A 316458 Likely_benign Generalized_epilepsy_and_paroxysmal_dyskinesia . . 0.38059 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7571 129328 10 78944590 G A 134774 Benign/Likely_benign Generalized_epilepsy_and_paroxysmal_dyskinesia... 0.44933 0.36048 0.40595 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7572 786826 10 79588706 G A 712480 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7573 227069 10 81317292 G A 229922 Benign/Likely_benign not_specified|not_provided . 0.28665 0.34884 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7574 165197 10 81372081 A G 175023 Benign not_specified 0.16172 0.20002 0.22085 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7575 165215 10 81701722 T C 175027 Benign not_specified 0.71605 0.6635 0.77037 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7576 165218 10 81706281 A G 175307 Benign not_specified 0.05059 0.04539 0.02436 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7577 165219 10 81706324 A G 175029 Benign not_specified 0.41358 0.47004 0.50459 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7578 301153 10 82031937 C CCCAGCCTGAA 322697 Benign Hepatic_methionine_adenosyltransferase_deficiency . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7579 301159 10 82032445 G C 316692 Likely_benign Hepatic_methionine_adenosyltransferase_deficiency . . 0.02895 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7580 301165 10 82032555 T A 316710 Benign Hepatic_methionine_adenosyltransferase_deficiency . . 0.12001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7581 256104 10 82033594 G A 253866 Benign Hepatic_methionine_adenosyltransferase_deficie... 0.53791 0.51236 0.58686 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7582 256103 10 82034262 G A 253867 Benign Hepatic_methionine_adenosyltransferase_deficie... 0.53798 0.51253 0.58806 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7583 256107 10 82034842 A G 253869 Benign Hepatic_methionine_adenosyltransferase_deficie... 0.70703 0.74412 0.84046 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7584 256106 10 82034854 T C 253870 Benign Hepatic_methionine_adenosyltransferase_deficie... 0.70934 0.75044 0.84086 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7585 256105 10 82040052 A G 253871 Benign Hepatic_methionine_adenosyltransferase_deficie... 0.74842 0.7543 0.86342 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7586 256108 10 82045354 G C 253872 Benign Hepatic_methionine_adenosyltransferase_deficie... 0.24727 0.1467 0.1909 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7587 301199 10 82049251 T TTTTTTC,TTTCTTC 311293 Benign Hepatic_methionine_adenosyltransferase_deficiency . . . 1|2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
7588 691406 10 83637775 C G 679097 Uncertain_significance Hirschsprung_disease . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7589 691408 10 84745256 C T 679099 Uncertain_significance Hirschsprung_disease . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7590 262215 10 85960395 A G 253878 Benign not_specified|Cone-Rod_Dystrophy,_Recessive|no... 0.52491 0.49472 0.51597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7591 262210 10 85972043 A G 253884 Benign not_specified|Cone-Rod_Dystrophy,_Recessive|no... 0.41835 0.35573 0.42911 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7592 194794 10 85974236 T C 191957 Benign not_specified|Cone-Rod_Dystrophy,_Recessive|no... 0.60488 . 0.57368 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7593 194795 10 85974381 A G 191958 Benign not_specified|Cone-Rod_Dystrophy,_Recessive 0.68053 0.58671 0.6274 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7594 301278 10 85975246 T G 316942 Benign Cone-Rod_Dystrophy,_Recessive . . 0.57169 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7595 301281 10 85975284 G A 316962 Likely_benign Cone-Rod_Dystrophy,_Recessive . . 0.09804 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7596 301312 10 85976965 A C 311434 Benign Cone-Rod_Dystrophy,_Recessive . . 0.55651 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7597 301314 10 85977020 A T 323570 Benign Cone-Rod_Dystrophy,_Recessive . . 0.25659 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7598 285754 10 86004873 T C 269991 Benign not_specified|Retinitis_Pigmentosa,_Recessive 0.62056 0.53118 0.63359 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7599 197174 10 86012713 C T 194335 Benign not_specified|Retinitis_Pigmentosa,_Recessive 0.50515 . 0.50319 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7600 301324 10 86018493 C CA 323008 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.11601 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7601 301327 10 86018811 A G 317026 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.11621 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7602 683005 10 88428076 A T 664616 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7603 671123 10 88428158 T C 664626 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7604 138106 10 88428335 T C 141809 Benign/Likely_benign Left_ventricular_noncompaction_cardiomyopathy|... . . 0.7522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7605 672518 10 88439005 G A 665227 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7606 672014 10 88440996 C G 665235 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7607 257337 10 88445385 G C 253888 Benign not_specified|not_provided 0.71022 0.68751 0.6242 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7608 683610 10 88445741 C T 664648 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7609 672033 10 88446633 A T 665240 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7610 43881 10 88458996 TTC T 53050 Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7611 301347 10 88516595 T C 323644 Benign Juvenile_Polyposis . . 0.34824 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7612 41782 10 88635779 C A 50221 Benign Hereditary_cancer-predisposing_syndrome|not_sp... 0.38951 0.35582 0.4998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7613 259286 10 88683122 T C 253896 Benign Hereditary_cancer-predisposing_syndrome|not_sp... 0.38982 0.35376 0.49661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7614 435339 10 88817578 GA G 429134 Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7615 129164 10 88820789 T C 134610 Benign/Likely_benign Hyperinsulinism-hyperammonemia_syndrome|not_sp... 0.06943 0.12206 0.16773 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7616 810888 10 89623716 G A 799618 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7617 440217 10 89623901 G C 433880 Benign not_specified . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7618 440219 10 89653686 A G 433072 Benign not_specified . . 0.41793 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7619 92810 10 89720907 T G 98717 Benign PTEN_hamartoma_tumor_syndrome|not_specified 0.37864 0.36991 0.43251 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7620 301463 10 89726745 T C 323162 Benign PTEN_hamartoma_tumor_syndrome . . 0.3734 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7621 674576 10 90695243 G A 665309 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7622 680518 10 90695411 T C 665553 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7623 674574 10 90703465 C T 665311 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7624 680517 10 90707397 A G 665314 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7625 254734 10 90771829 T C 253905 Benign Autoimmune_lymphoproliferative_syndrome|not_sp... 0.69522 0.75613 0.77536 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7626 684275 10 90975117 C G 665316 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7627 672000 10 90982081 A G 665559 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7628 255611 10 90983629 C T 253907 Benign not_specified|not_provided 0.30271 0.39928 0.45427 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7629 672051 10 90984787 T G 665317 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7630 255610 10 90984990 G A 253908 Benign not_specified|Wolman_disease|not_provided 0.165 . 0.31889 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7631 684273 10 90987007 T C 665329 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7632 684269 10 91005854 C T 665330 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7633 195049 10 91007360 T G 192211 Benign Lysosomal_acid_lipase_deficiency|not_specified... 0.24097 0.31632 0.28614 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7634 684268 10 91007470 C A 665561 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7635 301603 10 92672564 T C 323274 Likely_benign Dilated_Cardiomyopathy,_Dominant . . 0.35423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7636 683101 10 92679630 G C 664729 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7637 301613 10 92680929 A G 323878 Benign/Likely_benign Dilated_Cardiomyopathy,_Dominant|not_provided . . 0.66234 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7638 259411 10 94366898 A G 253910 Benign not_specified 0.14447 0.0633 0.15495 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7639 259408 10 94392459 A T 253911 Benign not_specified 0.159 0.08508 0.17812 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7640 211273 10 94409586 T A 207803 Benign not_specified|not_provided 0.00477 0.00466 0.0024 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7641 778469 10 94834568 C G 701479 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7642 95346 10 95372734 G A 101245 Benign/Likely_benign Achromatopsia|not_specified|Cone-Rod_Dystrophy... 0.19453 . 0.16434 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7643 259938 10 95389041 G A 253917 Benign Achromatopsia|not_specified|Cone-Rod_Dystrophy... 0.36629 0.34962 0.39577 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7644 259939 10 95389083 A G 253918 Benign not_specified 0.36845 0.35157 0.39617 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7645 259940 10 95395247 A G 253920 Benign Achromatopsia|not_specified|Cone-Rod_Dystrophy... 0.73751 0.73967 0.72883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7646 259942 10 95395364 C G 253921 Benign/Likely_benign Achromatopsia|not_specified|Cone-Rod_Dystrophy... 0.22913 . 0.23522 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7647 259943 10 95405814 C A 253922 Benign Achromatopsia|not_specified|Cone-Rod_Dystrophy... 0.42342 0.46045 0.41334 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7648 683030 10 95537587 C T 665569 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7649 684055 10 95549595 C A 665347 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7650 683031 10 95549671 A G 665570 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7651 301662 10 95557775 T C 311731 Likely_benign Familial_temporal_lobe_epilepsy_1 . . 0.00519 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7652 301666 10 95753822 A G 323939 Benign Nephrotic_syndrome . . 0.55252 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7653 301676 10 95790669 G A 323351 Benign Nephrotic_syndrome . . 0.36701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7654 260733 10 95791613 T C 253928 Benign Nephrotic_syndrome|Nephrotic_syndrome,_type_3|... 0.39654 0.3197 0.46046 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7655 260734 10 95791763 G A 253929 Benign Nephrotic_syndrome|Nephrotic_syndrome,_type_3|... 0.31824 0.28604 0.3782 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7656 260712 10 95931087 G T 253931 Benign Nephrotic_syndrome|Nephrotic_syndrome,_type_3|... 0.17173 . 0.20108 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7657 260722 10 96044734 C A 253940 Benign Nephrotic_syndrome|Nephrotic_syndrome,_type_3|... 0.27175 0.34313 0.23023 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7658 260729 10 96076495 C G 253946 Benign Nephrotic_syndrome|not_specified 0.1188 0.14555 0.08706 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7659 225947 10 96405502 G A 227769 drug_response warfarin_response_-_Dosage . . 0.24541 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7660 666243 10 96535124 A G 622287 . . 0.16193 0.18627 0.22844 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7661 16897 10 96541616 G A 31936 drug_response Mephenytoin,_poor_metabolism_of|Proguanil,_poo... 0.15413 0.18563 0.22145 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7662 301746 10 97365820 G A 324029 Benign Cutis_laxa,_recessive . . 0.20048 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7663 301749 10 97366107 A G 324059 Benign Cutis_laxa,_recessive . . 0.20008 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7664 301753 10 97366364 C T 324060 Benign Cutis_laxa,_recessive . . 0.29792 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7665 678446 10 97366746 C T 664731 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7666 258825 10 97369939 C T 253949 Benign Cutis_laxa-corneal_clouding-oligophrenia_syndr... 0.39328 0.41083 0.27955 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7667 683044 10 97370331 T G 665352 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7668 678444 10 97370989 T A 665341 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7669 683043 10 97373193 G GA 665576 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7670 683038 10 97373200 T A 665588 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7671 678443 10 97373966 A C 665593 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7672 683037 10 97385492 G A 665606 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7673 683818 10 97388579 C T 664744 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7674 683036 10 97393678 G A 665355 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7675 258826 10 97397227 T C 253953 Benign not_specified|not_provided 0.66669 0.68616 0.64257 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7676 682757 10 97397486 G A 665616 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7677 670229 10 97440572 G C 665618 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7678 674960 10 97442995 A G 665375 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7679 670228 10 97444603 C T 665628 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7680 674959 10 97446206 G A 664757 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7681 130577 10 97447373 A T 136023 Benign not_specified 0.35176 0.3544 0.42472 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7682 260669 10 97447487 T A 253956 Benign not_specified 0.19699 0.16291 0.19529 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7683 402427 10 97990583 A G 390501 Benign not_specified 0.5582 . 0.46126 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7684 204259 10 99359406 C T 200664 Uncertain_significance Primary_hyperoxaluria,_type_III 0.09289 0.08388 0.07268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7685 301827 10 99498234 G A 323498 Benign Spastic_paraplegia,_autosomal_dominant|not_pro... 0.5223 0.53042 0.4369 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7686 130787 10 99504630 G T 136233 Benign not_specified|Spastic_paraplegia,_autosomal_do... 0.76384 0.73238 0.69649 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7687 301841 10 99519097 A G 317478 Benign Spastic_paraplegia,_autosomal_dominant 0.75903 0.73046 0.67971 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7688 301846 10 99519305 T C 324172 Benign Spastic_paraplegia,_autosomal_dominant . . 0.74201 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7689 301847 10 99519424 G A 317487 Benign Spastic_paraplegia,_autosomal_dominant . . 0.73423 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7690 301850 10 99519753 G A 311862 Benign Spastic_paraplegia,_autosomal_dominant . . 0.67891 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7691 298309 10 100176104 AGG GGA 317492 Uncertain_significance Hermansky-Pudlak_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7692 298311 10 100176154 C T 317495 Benign Hermansky-Pudlak_syndrome . . 0.43091 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7693 298314 10 100176339 A G 323522 Benign Hermansky-Pudlak_syndrome . . 0.57228 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7694 298315 10 100176366 T C 323544 Benign Hermansky-Pudlak_syndrome . . 0.57228 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7695 298322 10 100176615 G C 311898 Benign Hermansky-Pudlak_syndrome . . 0.59045 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7696 298329 10 100176869 C T 317497 Benign Hermansky-Pudlak_syndrome . . 0.46146 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7697 298332 10 100176997 A G 311903 Benign Hermansky-Pudlak_syndrome . . 0.53894 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7698 298333 10 100177049 G A 317527 Benign Hermansky-Pudlak_syndrome . . 0.52636 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7699 167184 10 100182285 T C 175332 Benign Hermansky-Pudlak_syndrome|not_specified 0.20591 0.26959 0.25759 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7700 255500 10 100184062 CC AG 253962 Benign/Likely_benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7701 163666 10 100195130 G A 175056 Benign/Likely_benign Hermansky-Pudlak_syndrome|not_specified 0.04367 0.06335 0.0639 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7702 802626 10 100219374 T A 791020 Benign Urofacial_syndrome_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7703 713620 10 101163636 G A 730720 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7704 298375 10 101469605 G A 323571 Benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.82628 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7705 298377 10 101469903 T G 311921 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.10643 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7706 298385 10 101470858 C CA 317617 Benign Hepatic_failure,_early-onset,_and_neurologic_d... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7707 298387 10 101470927 A G 311927 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.1264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7708 128836 10 101473218 A G 134284 Benign Hepatic_failure,_early-onset,_and_neurologic_d... 0.83485 0.86101 0.82708 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7709 683434 10 101473535 C T 664772 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7710 298432 10 101492241 G A 311989 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.53874 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7711 298434 10 101492403 T G 317652 Likely_benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.54014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7712 298437 10 101542578 C T 323615 Benign/Likely_benign Dubin-Johnson_syndrome|not_specified 0.15216 0.16868 0.13498 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7713 802627 10 101544447 A T 791021 Benign Dubin-Johnson_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7714 196101 10 101604207 C T 193262 Benign Dubin-Johnson_syndrome|not_specified 0.33354 . 0.28814 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7715 94387 10 102506070 G C 100287 Benign Renal_coloboma_syndrome|not_specified 0.77499 . 0.84665 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7716 136593 10 102747363 G T 140296 Benign Mitochondrial_DNA_depletion_syndrome|not_speci... . . 0.41214 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7717 683418 10 102749933 GATGGCA G 664765 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7718 298513 10 102753788 C G 309222 Benign Mitochondrial_DNA_depletion_syndrome|Autosomal... . . 0.05751 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7719 44129 10 102770082 T G 53297 Benign not_specified|not_provided . 0.81221 0.77296 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7720 44126 10 102770293 T TGCTGCG 53294 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7721 44124 10 102770327 A G 53292 Benign not_specified|not_provided . 0.81087 0.77616 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7722 683855 10 102770953 A C 663984 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7723 672460 10 102772211 A G 664489 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7724 672433 10 102772256 G A 663986 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7725 683852 10 102772283 A C 664493 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7726 667958 10 102775716 G A 664540 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7727 683842 10 102776398 C G 663989 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7728 682679 10 102777461 T C 663991 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7729 682678 10 102777768 C G 664544 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7730 682677 10 102780312 G T 664785 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7731 683837 10 102780638 A C 664494 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7732 667957 10 102782309 A C 664793 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7733 46211 10 102783678 T C 55376 Benign not_specified|not_provided 0.66146 0.5777 0.59605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7734 193449 10 103454402 A T 190613 Benign/Likely_benign Split-hand/foot_malformation|not_specified 0.10392 0.22882 0.09525 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7735 196404 10 103991381 G A 193565 Benign not_specified|not_provided 0.66323 0.64697 0.66414 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7736 403232 10 104157727 C T 389832 Benign not_specified 0.92219 0.96458 0.92213 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7737 403233 10 104159196 A G 389920 Benign not_specified 0.99186 0.9971 0.98682 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7738 403234 10 104160434 A G 389836 Benign not_specified 0.98948 0.99677 0.98682 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7739 677127 10 104263675 T C 664497 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7740 260689 10 104264107 C T 253668 Benign not_specified|not_provided 0.47955 0.48567 0.39617 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7741 677128 10 104264280 C T 664499 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7742 677129 10 104268877 G C 664547 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7743 677130 10 104269217 G A 664507 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7744 677131 10 104269301 G A 664511 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7745 677132 10 104352124 C CCATTT 664513 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7746 677133 10 104374815 G C 663998 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7747 260688 10 104387019 T C 253670 Benign not_specified|not_provided 0.68115 0.66275 0.71965 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7748 298587 10 104391034 C T 309286 Likely_benign Medulloblastoma . . 0.19449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7749 298607 10 104392580 C T 319883 Likely_benign Medulloblastoma . . 0.1234 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7750 137063 10 104592249 A C 140766 Benign not_specified|not_provided 0.22044 0.22378 0.13878 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7751 761000 10 104594906 T G 775608 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7752 298624 10 104596924 C A 314017 Benign Congenital_adrenal_hyperplasia|not_provided 0.38329 . 0.41034 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7753 298625 10 104596981 G A 314018 Benign Congenital_adrenal_hyperplasia|not_provided 0.3949 0.42478 0.44249 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7754 298630 10 104597152 A G 314022 Benign Congenital_adrenal_hyperplasia 0.38234 . 0.41054 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7755 298645 10 104814162 T C 319953 Benign Renal_Hypomagnesemia,_Dominant 0.39021 0.41992 0.43251 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7756 298651 10 104836940 C T 314056 Benign Renal_Hypomagnesemia,_Dominant 0.10779 0.11458 0.07708 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7757 298665 10 104837816 G A 320488 Benign Renal_Hypomagnesemia,_Dominant . . 0.26278 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7758 380852 10 104849468 G A 371502 Benign not_specified 0.39682 0.4171 0.42213 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7759 667762 10 104851285 G A 664522 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7760 667744 10 104851396 G T 664527 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7761 667742 10 104852648 G A 664537 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7762 667740 10 104852659 A AAACTT 664004 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7763 667734 10 104855670 G A 664548 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7764 667739 10 104857205 GA G 664812 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7765 667737 10 104857218 A C 664005 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7766 667735 10 104857234 C A 664818 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7767 667538 10 104860053 T A 664553 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7768 667537 10 104866062 C T 664556 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7769 380851 10 104934709 T C 371505 Benign not_specified 0.1101 0.11381 0.07668 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7770 380850 10 104953007 C G 371524 Benign not_specified . . 0.81969 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7771 768386 10 105110740 A AGGAGGC 701154 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7772 298673 10 105791355 C T 319982 Benign Epidermolysis_bullosa,_junctional . . 0.1885 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7773 298676 10 105791629 CA C 320507 Benign Epidermolysis_bullosa,_junctional . . 0.24661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7774 298678 10 105791929 C G 309383 Benign Epidermolysis_bullosa,_junctional 0.23193 . 0.22883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7775 256274 10 105796399 G C 253672 Benign Epidermolysis_bullosa,_junctional|not_specified 0.7229 0.78044 0.69149 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7776 256273 10 105796819 A G 253673 Benign Epidermolysis_bullosa,_junctional|not_specified 0.98624 0.99643 0.98602 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7777 256272 10 105797378 G A 253674 Benign not_specified 0.71636 0.77809 0.68291 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7778 256271 10 105798872 T C 253675 Benign Epidermolysis_bullosa,_junctional|not_specified 0.72251 . 0.68151 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7779 256270 10 105799216 G T 253676 Benign Epidermolysis_bullosa,_junctional|not_specified 0.71513 0.77687 0.68351 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7780 256269 10 105801253 G A 253677 Benign Epidermolysis_bullosa,_junctional|not_specified 0.71813 0.77249 0.67392 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7781 256268 10 105805497 C T 253678 Benign not_specified 0.43242 0.4945 0.4361 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7782 298718 10 105810371 T G 320575 Conflicting_interpretations_of_pathogenicity Epidermolysis_bullosa,_junctional|not_provided 0.00123 0.00277 0.0022 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7783 256267 10 105810400 T C 253679 Benign Epidermolysis_bullosa,_junctional|not_specified 0.71905 0.78034 0.69369 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7784 298725 10 105815116 A G 320577 Likely_benign Epidermolysis_bullosa,_junctional 0.11741 0.13902 0.09964 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7785 256266 10 105816916 C T 253680 Benign Epidermolysis_bullosa,_junctional|not_specified 0.84887 0.93566 0.81849 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7786 256263 10 105819956 G A 253682 Benign Epidermolysis_bullosa,_junctional|not_specified 0.5552 0.64732 0.55252 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7787 256276 10 105824333 G A 253683 Benign Epidermolysis_bullosa,_junctional|not_specified 0.58512 0.67395 0.5649 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7788 667614 10 112327119 A G 664557 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7789 674950 10 112328838 C G 664832 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7790 670110 10 112333272 G A 664008 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7791 259770 10 112337693 T A 253686 Benign not_specified 0.05022 . 0.14197 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7792 259771 10 112341636 A C 253687 Benign not_specified 0.09652 0.14944 0.14816 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7793 159992 10 112343591 G A 168820 Benign not_specified|Cornelia_de_Lange_Syndrome 0.09731 0.14899 0.14816 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7794 259765 10 112343923 T C 253688 Benign not_specified 0.09811 0.14885 0.14816 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7795 670112 10 112349204 A G 664566 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7796 259768 10 112356331 G A 253691 Benign not_specified|not_provided 0.97262 0.97925 0.95727 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7797 670113 10 112359740 A T 664551 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7798 670114 10 112360002 G A 664834 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7799 259769 10 112360936 A G 253692 Benign not_specified 0.09756 . 0.14896 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7800 159985 10 112361870 A G 168840 Benign History_of_neurodevelopmental_disorder|not_spe... 0.98985 . 0.98682 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7801 674952 10 112362019 G T 664567 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7802 44029 10 112404302 G A 53197 Benign/Likely_benign Cardiomyopathy|not_specified|Cardiovascular_ph... . 0.15223 0.22224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7803 671182 10 112543217 G A 664564 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7804 673055 10 112543345 G A 664579 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7805 671183 10 112544063 A C 664030 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7806 43975 10 112544655 C T 53143 Benign/Likely_benign not_specified|Dilated_Cardiomyopathy,_Dominant 0.21901 0.16402 0.16414 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7807 138901 10 112572458 G C 142604 Benign/Likely_benign Cardiomyopathy|Dilated_cardiomyopathy_1DD|not_... . . 0.99101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7808 671184 10 112572873 T C 664589 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7809 671185 10 112572930 G A 664590 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7810 672036 10 112579663 C T 664860 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7811 672037 10 112580880 C T 664037 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7812 678595 10 112583606 A G 664594 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7813 678597 10 112590582 G A 664040 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7814 44012 10 112590810 G C 53180 Benign/Likely_benign Dilated_cardiomyopathy_1DD|not_specified|Dilat... 0.97131 0.988 0.96965 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7815 672038 10 112591134 A G 664041 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7816 44016 10 112595719 G C 53184 Benign/Likely_benign Dilated_cardiomyopathy_1DD|not_specified|Cardi... 0.75843 . 0.69709 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7817 298808 10 112596122 T C 320661 Likely_benign Dilated_Cardiomyopathy,_Dominant . . 0.01378 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7818 561542 10 112745766 T C 552614 Benign not_provided . . 0.45048 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7819 561589 10 112760544 A G 552615 Benign not_provided . . 0.97145 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7820 41450 10 112764594 T C 49888 Benign not_specified|not_provided 0.82255 0.83475 0.84325 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7821 561497 10 112768818 C T 552618 Likely_benign not_provided . . 0.01138 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7822 561496 10 112768850 A C 552619 Benign not_provided . . 0.39417 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7823 511078 10 112836503 G C 502747 Likely_benign not_specified . . 0.45647 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7824 298892 10 115312811 T C 320281 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia . . 0.32228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7825 298898 10 115334124 C T 314323 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia 0.54406 0.62349 0.53455 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7826 298912 10 115341753 G A 314337 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia 0.41911 0.40036 0.377 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7827 298915 10 115341846 G A 309537 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia 0.41835 . 0.3762 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7828 298930 10 115348726 GA G 320351 Likely_benign Factor_VII_Marburg_I_Variant_Thrombophilia . 0.34897 0.34764 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7829 760916 10 115485245 G A 767642 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7830 17747 10 115804036 A G 32786 Likely_benign Resting_heart_rate|not_specified . 0.304 0.17772 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7831 17746 10 115805056 G C 32785 drug_response Congestive_heart_failure_and_beta-blocker_resp... . 0.736 0.70168 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7832 780913 10 118969353 C A 712183 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7833 683832 10 120907043 C G 664599 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7834 683829 10 120916539 T C 664615 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7835 380007 10 120917445 G A 371170 Benign not_specified|not_provided 0.48239 0.49633 0.50998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7836 683828 10 120917858 T C 664055 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7837 683826 10 120918950 C T 664888 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7838 380006 10 120920588 T C 371173 Benign not_specified|not_provided 0.46686 0.48192 0.49441 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7839 683825 10 120924874 G C 664622 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7840 683824 10 120925433 G C 664059 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7841 671234 10 121410670 C T 664065 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7842 671337 10 121429072 A G 664625 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7843 675495 10 121432208 A G 664909 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7844 259263 10 121435955 A C 253698 Benign not_specified 0.72016 0.67674 0.63518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7845 44777 10 121436362 A G 53944 Benign Myofibrillar_myopathy,_BAG3-related|not_specif... 0.77034 0.7409 0.70647 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7846 298967 10 121437031 CTTG C 320409 Benign Dilated_Cardiomyopathy,_Dominant|Myofibrillar_... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7847 298973 10 121437329 A G 309576 Benign Dilated_Cardiomyopathy,_Dominant|Myofibrillar_... . . 0.15316 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7848 298991 10 123239112 G A 309584 Benign Craniosynostosis|Crouzon_syndrome|Acrocephalos... 0.43452 0.53105 0.41434 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7849 667903 10 123241373 C T 664070 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7850 667902 10 123241496 T C 664912 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7851 667901 10 123242026 T C 664913 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7852 255317 10 123243197 G A 253699 Benign Craniosynostosis|Crouzon_syndrome|Acrocephalos... 0.45441 0.56138 0.42312 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7853 667900 10 123246612 G A 664919 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7854 667899 10 123279866 C T 664927 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7855 255319 10 123298158 T C 253704 Benign Craniosynostosis|Crouzon_syndrome|Acrocephalos... 0.76672 . 0.79533 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7856 299019 10 123357561 C T 320469 Benign Craniosynostosis|Crouzon_syndrome|Acrocephalos... . . 0.71026 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7857 299029 10 124214355 C T 314432 Likely_benign Macular_degeneration 0.12546 . 0.11442 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7858 299039 10 124216825 T C 309623 Likely_benign Macular_degeneration . . 0.05192 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7859 299041 10 124216834 A C 314437 Likely_benign Macular_degeneration . . 0.05192 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7860 21325 10 124221276 G C 34177 Benign/Likely_benign Macular_degeneration|Cerebral_autosomal_recess... . . 0.04892 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7861 299054 10 124271589 G A 309634 Benign/Likely_benign Macular_degeneration|not_provided 0.99939 0.99984 0.9994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7862 299055 10 124271595 G A 320494 Likely_benign Macular_degeneration 0.65062 0.61126 0.628 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7863 768398 10 124351954 G A 701230 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7864 402577 10 124595874 GA G 389937 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7865 368893 10 124768423 G A 353122 Likely_benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.01298 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7866 299060 10 124768437 A AG 321002 Likely_benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7867 299089 10 124812685 AT A 320535 Uncertain_significance Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7868 299099 10 124813543 C T 320547 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.44149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7869 299119 10 124815149 C G 309669 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.89537 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7870 299126 10 124815394 G A 321076 Likely_benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.10104 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7871 299128 10 124815456 A C 321077 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.17272 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7872 299134 10 124815771 T C 314520 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.16154 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7873 299143 10 124816515 C G 321087 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.96226 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7874 299152 10 124817100 A G 309686 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.96226 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7875 299160 10 124817748 A T 320612 Benign Deficiency_of_2-methylbutyryl-CoA_dehydrogenase . . 0.33387 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7876 683257 10 126086730 G A 664657 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7877 161 10 126089434 G A 15200 Benign Ornithine_aminotransferase_deficiency|not_prov... . 0.41803 0.40994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7878 683256 10 126089656 T G 664627 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7879 683255 10 126089703 G A 664933 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7880 672113 10 126090562 T C 664628 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7881 684343 10 126091938 C G 664074 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7882 167396 10 126093991 T C 177892 Benign Ornithine_aminotransferase_deficiency|not_spec... 0.8087 0.85261 0.86582 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7883 683242 10 126100850 T C 664942 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7884 299181 10 126107506 A C 320637 Benign Ornithine_aminotransferase_deficiency . . 0.86302 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7885 299198 10 127511756 C T 321178 Benign Congenital_erythropoietic_porphyria . . 0.3732 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7886 225268 10 127511790 G T 227033 Benign Congenital_erythropoietic_porphyria . . 0.37939 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7887 771743 10 131964784 G A 701252 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7888 683765 10 135179777 C T 664632 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7889 379966 10 135180430 A G 373332 Benign not_specified 0.94187 0.98411 0.94788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7890 683763 10 135183094 C A 664688 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7891 683762 10 135183709 G T 664656 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7892 683761 10 135183802 T C 664661 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7893 379965 10 135184126 G A 370659 Benign not_specified 0.80134 0.91308 0.82129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7894 683758 10 135184421 C G 664952 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7895 683757 10 135184555 T G 664086 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7896 402581 10 135347397 T C 389879 Benign not_specified 0.96525 0.99116 0.97284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7897 402582 10 135351362 T C 389938 Benign not_specified 0.71821 0.83022 0.70088 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7898 768404 11 193112 C T 701694 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7899 768405 11 193722 A G 701695 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7900 669653 11 299091 G C 665036 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7901 674990 11 299219 C A 665986 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7902 193131 11 299411 C G 190296 Benign Osteogenesis_imperfecta_type_5|not_specified 0.38807 . 0.59265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7903 674885 11 299586 A G 665688 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7904 667613 11 299719 T A 665859 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7905 667612 11 299749 G A 665863 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7906 561388 11 532923 A C 552660 Benign not_provided . . 0.05611 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7907 40431 11 534242 A G 48901 Benign Costello_syndrome|Rasopathy|not_specified|not_... 0.35453 0.31352 0.29712 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7908 561357 11 534403 GCCCAGGCCCAGC GCCCAGG,G 552665 Benign not_provided . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
7909 476072 11 615010 GA TT 461411 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7910 306252 11 791462 G A 322136 Benign Early_Infantile_Epileptic_Encephalopathy,_Auto... . . 0.29932 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7911 670574 11 795374 CT C,CC 666116 Benign not_provided . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
7912 667943 11 819486 T C 665287 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7913 667944 11 820127 T G 666312 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7914 261245 11 822622 A G 254345 Benign not_specified 0.55924 0.53418 0.44249 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7915 252728 11 823729 C T 247067 Benign/Likely_benign Neutral_lipid_storage_disease_with_myopathy|no... 0.01759 . 0.00759 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7916 261236 11 824789 T C 254357 Benign Neutral_lipid_storage_disease_with_myopathy|no... 0.70684 0.59237 0.65435 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7917 306309 11 824987 CTGCA C 328307 Benign Neutral_lipid_storage_disease_with_myopathy . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7918 306310 11 825110 A G 328308 Benign Neutral_lipid_storage_disease_with_myopathy . . 0.34225 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7919 178786 11 1250488 C T 175377 Benign not_specified 0.31804 0.43955 0.39277 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7920 163995 11 1252708 G C 175100 Benign not_specified 0.52881 . 0.56949 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7921 163996 11 1253401 C G 175799 Benign not_specified 0.39738 . 0.46446 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7922 163997 11 1253942 T C 175659 Benign not_specified 0.60688 0.64398 0.54493 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7923 403127 11 1255089 CCCCTG C 389907 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7924 163998 11 1255773 C T 175660 Benign not_specified 0.25578 0.37979 0.33946 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7925 403133 11 1264183 G A 389975 Benign not_specified 0.11467 0.12254 0.08526 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7926 403141 11 1264890 A G 389852 Benign not_specified 0.0832 0.13916 0.09764 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7927 403147 11 1266696 A C 389977 Benign not_specified . 0.19789 0.32149 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7928 403148 11 1266716 T C 389927 Benign not_specified . 0.16938 0.29493 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7929 403150 11 1267325 T C 389877 Benign not_specified 0.30237 0.48968 0.48063 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7930 403159 11 1267960 A G 389881 Benign not_specified 0.67401 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7931 403165 11 1268931 A C 389999 Benign not_specified . . 0.28894 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7932 403171 11 1269835 G A 389954 Benign not_specified . . 0.46146 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7933 403175 11 1271429 C T 390023 Benign not_specified 0.38796 . 0.46705 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7934 403179 11 1272226 A C 390027 Benign not_specified 0.4698 . 0.54034 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7935 403180 11 1272858 C T 390035 Benign not_specified 0.26012 0.31906 0.33886 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7936 303822 11 1774136 T G 319538 Likely_benign Neuronal_Ceroid-Lipofuscinosis,_Dominant/Reces... . . 0.15595 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7937 303831 11 1774666 T C 313438 Likely_benign Neuronal_Ceroid-Lipofuscinosis,_Dominant/Reces... . . 0.20048 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7938 670819 11 1774934 A G 665706 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7939 258490 11 1775385 C T 254079 Benign Ceroid_lipofuscinosis_neuronal_10|not_specifie... 0.05427 0.07866 0.05232 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7940 128876 11 1780205 A G 134324 Benign/Likely_benign Seizures|Ceroid_lipofuscinosis_neuronal_10|not... 0.08952 0.07837 0.07628 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7941 128875 11 1780867 G A 134323 Benign/Likely_benign Seizures|Ceroid_lipofuscinosis_neuronal_10|not... 0.06423 0.07131 0.05531 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7942 128873 11 1782594 G A 134321 Benign/Likely_benign Seizures|Ceroid_lipofuscinosis_neuronal_10|not... 0.06437 0.07041 0.05531 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7943 669403 11 1785401 T C 665626 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7944 140481 11 1861225 C A 150159 not_provided not_provided . . 0.17372 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7945 94120 11 1861760 T C 100020 Benign/Likely_benign Arthrogryposis_multiplex_congenita_distal|Arth... 0.80324 . 0.82768 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7946 259023 11 1862168 C T 254092 Benign not_specified 0.19966 0.26589 0.17692 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7947 31866 11 1943605 G A 40526 not_provided not_provided . . 0.78135 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7948 31868 11 1944202 A G 40528 not_provided not_provided 0.72339 . 0.77975 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7949 31869 11 1944636 A T 40529 not_provided not_provided . . 0.8105 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7950 260032 11 1950302 A G 254096 Benign not_specified 0.79995 . 0.82428 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7951 304051 11 2181060 T G 326978 Benign Maturity_onset_diabetes_mellitus_in_young|Sega... 0.54755 0.7378 0.64916 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7952 255532 11 2182004 A G 254106 Benign Maturity_onset_diabetes_mellitus_in_young|Sega... 0.93187 0.98049 0.93391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7953 304059 11 2182224 A T 319828 Benign Maturity_onset_diabetes_mellitus_in_young|Sega... 0.56714 0.7268 0.64956 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7954 263257 11 2189185 G A 254111 Benign not_specified 0.60247 0.71949 0.70567 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7955 526231 11 2190591 C G 526178 Benign Dystonia . . 0.2502 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7956 21866 11 2190951 C T 34718 Benign Segawa_syndrome,_autosomal_recessive|not_speci... 0.288 0.4249 0.43051 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7957 671897 11 2789856 A G 665973 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7958 42488 11 2797237 G A 51658 Benign Arrhythmia|Long_QT_syndrome|Jervell_and_Lange-... 0.14351 0.25844 0.18091 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7959 671898 11 2798448 A G 665855 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7960 671899 11 2868878 T C 665983 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7961 304249 11 2869712 G A 326211 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . 0.10548 0.09105 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7962 304262 11 2870108 A G 320017 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . 0.44813 0.52177 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7963 304268 11 2870165 A G 320030 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . 0.44745 0.51538 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7964 254879 11 2905204 G GC 254131 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7965 768417 11 2923826 A G 701720 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7966 768418 11 2930594 CG C 777942 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7967 258966 11 4103524 A G 254154 Benign not_specified 0.43876 0.4996 0.38898 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7968 258971 11 4104745 C G 254158 Benign not_specified 0.79055 0.88996 0.8121 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7969 769375 11 4615508 C G 701771 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7970 403275 11 4790873 CG C 390067 Benign not_specified 0.31954 0.21287 0.21586 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7971 403274 11 4976145 C G 390070 Benign not_specified . 0.13541 0.30312 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7972 256342 11 5246512 T G 254201 Benign not_specified . . 0.71026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7973 256341 11 5246595 C G 254202 Benign not_specified|not_provided . . 0.09924 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7974 36316 11 5247141 G A 44980 Benign beta_Thalassemia|not_specified|not_provided . . 0.71386 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7975 439774 11 5247726 G A 433082 Benign beta_Thalassemia|not_specified|not_provided . . 0.09924 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7976 256345 11 5247791 C G 254206 Benign/Likely_benign beta_Thalassemia|not_specified 0.8509 0.7699 0.72005 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7977 193106 11 5248243 A G 190271 Benign Hb_SS_disease|beta_Thalassemia|Fetal_hemoglobi... . . 0.71426 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7978 219307 11 6235656 G A 220996 Uncertain_significance Malignant_tumor_of_prostate 0.00546 0.00423 0.0026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7979 256592 11 6411935 TGCTGGC T 254229 Benign not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7980 93317 11 6415463 G A 99224 Benign/Likely_benign Sphingomyelin/cholesterol_lipidosis|not_specif... 0.19809 0.19174 0.14996 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7981 674309 11 6550309 G A 656069 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7982 201786 11 6630028 TC T 198367 Benign Cardiomyopathy|not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7983 305489 11 6634149 C T 328601 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.8103 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7984 305490 11 6634189 G A 327528 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.44888 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7985 558850 11 6637518 A G 549679 Benign not_provided 0.98961 0.99686 0.98982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7986 305512 11 6637739 AT A 321432 Uncertain_significance Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7987 558856 11 6638506 A T 549685 Benign not_provided 0.46568 0.54941 0.46206 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7988 773524 11 6646898 C T 701905 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
7989 306557 11 9800601 G A 328659 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.61082 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7990 306572 11 9801925 T G 315597 Benign Charcot-Marie-Tooth_disease_type_4 0.27229 0.30903 0.32748 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7991 669272 11 9802228 G C 665931 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7992 673451 11 9806914 T TACTG 666136 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7993 669269 11 9810432 G A 666377 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7994 669268 11 9810440 C T 665942 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7995 261940 11 9812236 G A 254371 Benign Charcot-Marie-Tooth_disease,_type_4B2|Charcot-... 0.88526 0.85836 0.80272 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7996 669265 11 9830732 A T 665304 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7997 669264 11 9834403 A G 665972 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7998 669263 11 9834428 C G 665974 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
7999 669262 11 9838235 A G 666140 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8000 669306 11 9851276 G A 665320 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8001 671682 11 9851331 C T 666379 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8002 138965 11 9853777 G C 142668 Benign/Likely_benign Charcot-Marie-Tooth_disease_type_4|not_specifi... 0.08229 0.09873 0.08227 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8003 669260 11 9854112 A G 665980 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8004 670562 11 9861009 G A 666383 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8005 669259 11 9863927 A C 666384 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8006 669258 11 9868840 A G 665322 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8007 672627 11 9871849 C T 666397 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8008 672626 11 9874505 T G 665325 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8009 670561 11 9875353 G T 666152 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8010 684195 11 9917222 C T 665990 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8011 673450 11 9917620 G C 665327 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8012 670558 11 10215598 C T 665379 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8013 302137 11 10476689 A G 312171 Likely_benign Erythrocyte_AMP_deaminase_deficiency . . 0.61961 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8014 302140 11 10476762 G C 312172 Benign Erythrocyte_AMP_deaminase_deficiency . . 0.99461 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8015 302142 11 10476898 T C 324733 Likely_benign Erythrocyte_AMP_deaminase_deficiency . . 0.71765 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8016 302175 11 10521764 T C 324011 Benign/Likely_benign Erythrocyte_AMP_deaminase_deficiency|not_speci... 0.31447 0.40837 0.36741 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8017 302181 11 10528125 A G 317975 Benign Erythrocyte_AMP_deaminase_deficiency . . 0.97484 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8018 302184 11 10528483 A G 324028 Benign Erythrocyte_AMP_deaminase_deficiency . . 0.94728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8019 302186 11 10528521 A G 324845 Benign Erythrocyte_AMP_deaminase_deficiency . . 0.99341 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8020 302190 11 10529016 G A 312217 Benign Erythrocyte_AMP_deaminase_deficiency . . 0.99401 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8021 255817 11 13514053 G T 254060 Benign Hypoparathyroidism_familial_isolated|not_speci... . 0.16106 0.15136 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8022 255816 11 13514417 C T 254061 Benign Hypoparathyroidism_familial_isolated|not_speci... 0.51371 0.55792 0.41773 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8023 127107 11 17298104 A C 132616 not_provided not_provided . . 0.95108 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8024 127108 11 17298125 C G 132617 Likely_pathogenic not_provided . . 0.66514 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8025 127110 11 17298277 A G 132619 not_provided not_provided . . 0.10084 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8026 303722 11 17408025 A G 326654 Likely_benign Maturity_onset_diabetes_mellitus_in_young|Tran... . . 0.46885 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8027 303727 11 17408251 G A 319470 Likely_benign Maturity_onset_diabetes_mellitus_in_young|Tran... . . 0.46765 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8028 303731 11 17408404 C T 319487 Likely_benign Maturity_onset_diabetes_mellitus_in_young|Tran... . . 0.73582 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8029 158670 11 17408630 C T 168863 Benign/Likely_benign Maturity_onset_diabetes_mellitus_in_young|Isle... 0.73202 0.64484 0.73063 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8030 158680 11 17409069 G A 168871 Benign/Likely_benign Maturity_onset_diabetes_mellitus_in_young|Isle... 0.22286 . 0.22744 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8031 8678 11 17409572 T C 23717 drug_response glibenclamide_response_-_Efficacy|gliclazide_r... . 0.6471 0.73702 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8032 435554 11 17410144 CA C 429192 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8033 157704 11 17414715 T C 167552 Likely_benign not_specified 0.37209 0.34386 0.35623 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8034 157700 11 17417504 A G 167548 Likely_benign not_specified 0.47038 0.45834 0.42153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8035 157699 11 17418477 C A 167547 Benign Permanent_neonatal_diabetes_mellitus|not_speci... 0.73857 . 0.72644 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8036 157698 11 17419279 C T 167546 Benign Permanent_neonatal_diabetes_mellitus|Hyperinsu... 0.40967 0.29623 0.39097 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8037 157694 11 17429922 T C 167542 Benign not_specified|not_provided 0.60881 0.61247 0.61462 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8038 157688 11 17448704 G A 167536 Benign Permanent_neonatal_diabetes_mellitus|not_speci... 0.35361 0.43459 0.36841 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8039 157684 11 17452492 G A 167532 Benign Permanent_neonatal_diabetes_mellitus|Hyperinsu... 0.45873 0.43112 0.42991 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8040 446763 11 17470274 C T 441416 Uncertain_significance not_specified . . 0.0016 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8041 303793 11 17515459 C CTGTT 325652 Benign Retinitis_pigmentosa-deafness_syndrome|Nonsynd... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8042 667875 11 17516183 T C 665835 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8043 48008 11 17517235 A G 57172 Benign not_specified 0.35207 0.40618 0.36981 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8044 678908 11 17517381 CAT C 665590 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8045 678883 11 17517407 G C 665837 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8046 678909 11 17518525 G T 665660 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8047 678882 11 17522810 T C 664971 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8048 670420 11 17523289 C T 665666 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8049 678881 11 17525965 G A 664973 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8050 670419 11 17531449 G T 665858 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8051 262731 11 17532102 C T 254073 Benign not_specified|not_provided 0.17134 0.16359 0.19988 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8052 670417 11 17533635 G A 665668 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8053 678880 11 17539255 C T 665860 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8054 47976 11 17542439 T C 57140 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.504 0.56886 0.51637 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8055 47975 11 17542491 C T 57139 Uncertain_significance not_specified 8e-05 0.00014 0.0006 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8056 47974 11 17542553 C T 57138 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.0931 0.06077 0.08566 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8057 670416 11 17542583 C T 665673 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8058 670415 11 17542586 T C 665676 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8059 670414 11 17542649 T C 664981 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8060 47973 11 17542872 G C 57137 Benign not_specified 0.41429 . 0.44269 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8061 678879 11 17545091 A G 665865 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8062 678911 11 17545141 C T 665682 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8063 672462 11 17545704 G A 665685 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8064 672461 11 17545726 T C 665602 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8065 667874 11 17546378 T C 664982 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8066 678907 11 17548704 C A 665694 Likely_benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8067 262736 11 17548737 T C 254076 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8068 226892 11 17627613 G C 230112 Benign not_specified . 0.76796 0.82608 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8069 768433 11 18290737 T G 777941 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8070 262985 11 18312953 G A 254082 Benign not_specified 0.5765 0.61165 0.65016 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8071 262983 11 18317699 C T 254084 Benign not_specified 0.57894 0.59145 0.65016 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8072 183158 11 18325146 C T 181294 association decreased_blood_alpha-hydroxyisovalerate_levels . . 0.41873 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8073 163678 11 18327684 G T 175690 Benign Hermansky-Pudlak_syndrome|not_specified 0.71226 0.72896 0.80471 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8074 303908 11 18416048 G GC 313482 Likely_benign Glycogen_storage_disease_XI . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8075 683023 11 18418719 C T 665627 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8076 683024 11 18420805 T A 665738 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8077 303912 11 18422487 C A 325801 Benign/Likely_benign Glycogen_storage_disease_XI|not_specified|not_... 0.1384 0.14419 0.09744 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8078 684191 11 18424118 A T 665925 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8079 683025 11 18424223 G C 665630 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8080 303914 11 18424451 C T 319682 Benign Glycogen_storage_disease_XI|not_specified|not_... 0.63228 0.69779 0.63458 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8081 303915 11 18424487 A G 325814 Benign Glycogen_storage_disease_XI|not_specified|not_... 0.6298 0.69772 0.63458 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8082 558836 11 18424590 T A 549651 Benign not_provided 0.62779 0.70136 0.63478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8083 683026 11 18425018 T C 664999 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8084 684193 11 18426656 A T 665748 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8085 683028 11 18426796 T G 665752 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8086 683029 11 18427317 A G 665640 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8087 684194 11 18427386 TAAAC T 665755 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8088 303925 11 18429450 A G 313501 Benign Glycogen_storage_disease_XI . 0.54839 0.4984 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8089 303926 11 18429467 T C 313504 Benign Glycogen_storage_disease_XI . 0.71624 0.62999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8090 303929 11 18429548 C G 313512 Benign Glycogen_storage_disease_XI . 0.54821 0.498 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8091 672012 11 19208070 C A 665772 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8092 678472 11 19210083 C T 665773 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8093 683441 11 19210112 G A 665776 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8094 683439 11 19213543 C G 665783 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8095 683438 11 19213606 A G 665792 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8096 303991 11 20621186 C T 319758 Benign Hyperekplexia 0.09242 0.08897 0.0637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8097 304002 11 20622975 G A 319765 Benign Hyperekplexia 0.36942 0.40668 0.40575 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8098 304003 11 20623007 C T 313581 Benign Hyperekplexia 0.26612 . 0.1903 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8099 304006 11 20623023 C T 313586 Benign Hyperekplexia 0.32452 . 0.32688 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8100 304008 11 20623042 T C 313588 Benign Hyperekplexia|Hyperekplexia_3 0.79502 0.77891 0.79313 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8101 304011 11 20623156 C G 325940 Benign Hyperekplexia|Hyperekplexia_3 0.99323 0.99832 0.99361 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8102 304018 11 20639400 A G 325978 Benign Hyperekplexia 0.995 . 0.9974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8103 304026 11 20649644 T C 319779 Benign Hyperekplexia 0.10134 . 0.0619 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8104 304033 11 20673832 C A 326944 Benign Hyperekplexia 0.15247 0.16228 0.07548 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8105 304043 11 20676417 C T 326948 Benign Hyperekplexia 0.22974 0.18331 0.14078 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8106 304093 11 22214877 A AAGGAGGAGGGGAATGAGGAGGAGG 319863 Benign Gnathodiaphyseal_dysplasia|Miyoshi_myopathy|Li... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8107 140544 11 22214903 G C 150222 Benign not_specified|Miyoshi_myopathy|Limb-Girdle_Mus... . . 0.78994 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8108 140547 11 22233029 G A 150225 Benign not_provided . . 0.57648 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8109 140548 11 22233066 T C 150226 Benign not_provided . . 0.57428 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8110 140554 11 22240056 G A 150232 Benign not_provided . . 0.78994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8111 667964 11 22240112 T C 665646 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8112 96681 11 22242729 T C 102574 Benign not_specified|Miyoshi_myopathy|Limb-Girdle_Mus... 0.84443 0.77722 0.78994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8113 140559 11 22247205 A G 150237 not_provided not_provided . . 0.78994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8114 667965 11 22248548 T C 665830 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8115 96687 11 22271870 A T 102580 Benign/Likely_benign not_specified|Miyoshi_myopathy|Limb-Girdle_Mus... 0.44864 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8116 140557 11 22297770 G C 150235 Benign not_provided 0.15012 . 0.20647 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8117 304121 11 22301807 A G 326025 Likely_benign Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph... . . 0.44409 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8118 304130 11 22302597 G T 327045 Likely_benign Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph... . . 0.56749 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8119 304140 11 22303067 GA G 326053 Likely_benign Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8120 304142 11 22303200 TAAGA T 319915 Likely_benign Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8121 304163 11 22304489 C G 319943 Benign Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph... . . 0.69289 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8122 304181 11 22644893 A AT 327062 Uncertain_significance Fanconi_anemia . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8123 304185 11 22645413 G A 319949 Benign Fanconi_anemia . . 0.94908 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8124 304190 11 22645600 C T 326155 Benign Fanconi_anemia . . 0.97145 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8125 304197 11 22646025 G A 313761 Benign Fanconi_anemia . . 0.70367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8126 261630 11 22647366 G A 254128 Benign Fanconi_anemia|not_specified|not_provided 0.14663 . 0.11382 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8127 179329 11 27679662 T C 175704 Benign not_specified 0.99608 0.99891 0.99521 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8128 17697 11 27679916 C T 32736 Benign Memory_impairment,_susceptibility_to|not_speci... . 0.19375 0.20128 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8129 257061 11 30255185 C T 254134 Benign/Likely_benign not_specified|isolated_follicle-stimulating_ho... 0.52846 0.5142 0.61482 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8130 304280 11 30255823 A G 320035 Likely_benign isolated_follicle-stimulating_hormone_deficiency . . 0.55851 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8131 304281 11 30255867 C G 313853 Likely_benign isolated_follicle-stimulating_hormone_deficiency . . 0.55871 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8132 304283 11 30255982 A G 320036 Likely_benign isolated_follicle-stimulating_hormone_deficiency . . 0.55731 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8133 304301 11 31807524 C T 320084 Benign Congenital_aniridia|Anophthalmia|Irido-corneo-... . . 0.64317 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8134 304309 11 31808235 T TAAAA 320089 Benign Congenital_aniridia|Anophthalmia|Irido-corneo-... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8135 304310 11 31808280 C T 327207 Benign Congenital_aniridia|Anophthalmia|Irido-corneo-... . . 0.84984 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8136 304317 11 31808585 A AAAAT 327217 Benign Congenital_aniridia|Anophthalmia|Irido-corneo-... . . 0.84784 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8137 304328 11 31809070 C T 320108 Benign Congenital_aniridia|Anophthalmia|Irido-corneo-... . . 0.17332 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8138 304334 11 31809322 C T 327224 Benign Congenital_aniridia|Anophthalmia|Irido-corneo-... . . 0.44788 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8139 304341 11 31810298 T A 313877 Benign Congenital_aniridia|Anophthalmia|Irido-corneo-... . . 0.66094 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8140 674009 11 31812582 C T 665691 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8141 258168 11 31815362 G A 254136 Benign Congenital_aniridia|Anophthalmia|Irido-corneo-... 0.04592 0.07792 0.09046 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8142 768439 11 32125961 C T 701735 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8143 403219 11 34154641 C T 390041 Benign not_specified 0.84869 0.93369 0.86042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8144 559060 11 34460541 T C 549658 Benign not_provided 0.63109 0.6749 0.52875 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8145 126867 11 35172122 G A 132380 association Calcium_oxalate_urolithiasis . . 0.27636 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8146 126868 11 35175045 T C 132381 association Calcium_oxalate_urolithiasis . . 0.27636 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8147 126869 11 35179651 G A 132382 association Calcium_oxalate_urolithiasis . . 0.19748 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8148 126871 11 35188191 G A 132384 association Calcium_oxalate_urolithiasis . . 0.28095 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8149 126872 11 35191445 C G 132385 association Calcium_oxalate_urolithiasis . . 0.45347 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8150 126875 11 35192629 C T 132388 association Calcium_oxalate_urolithiasis . . 0.53994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8151 126877 11 35221862 T A 132390 association Calcium_oxalate_urolithiasis . . 0.38818 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8152 304542 11 36613807 T C 320476 Benign Histiocytic_medullary_reticulosis|Severe_Combi... . . 0.61322 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8153 304561 11 36619761 A G 326452 Likely_benign Histiocytic_medullary_reticulosis|Severe_Combi... . . 0.09764 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8154 304569 11 44117409 G T 320503 Benign Hereditary_Multiple_Osteochondromatosis . . 0.08586 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8155 304623 11 44283297 T C 326553 Benign Enlarged_parietal_foramina . . 0.90735 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8156 304633 11 44283722 G A 326556 Benign Enlarged_parietal_foramina . . 0.73263 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8157 304644 11 44284294 T C 327560 Benign Enlarged_parietal_foramina . . 0.99181 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8158 304674 11 44285432 G A 326607 Likely_benign Enlarged_parietal_foramina . . 0.01378 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8159 304683 11 44285594 CCTT C 320588 Likely_benign Enlarged_parietal_foramina . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8160 304686 11 44285857 T C 320593 Benign Enlarged_parietal_foramina . . 0.88478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8161 304688 11 44285887 G A 320598 Benign Enlarged_parietal_foramina . . 0.75599 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8162 304694 11 44286176 G A 326638 Likely_benign Enlarged_parietal_foramina . . 0.19908 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8163 304703 11 44289183 C T 320622 Likely_benign Enlarged_parietal_foramina 0.09336 0.08313 0.08007 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8164 304706 11 44297054 T C 320633 Benign Enlarged_parietal_foramina 0.99123 . 0.99161 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8165 304711 11 44331309 G A 320636 Benign Enlarged_parietal_foramina . 0.60283 0.37201 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8166 304715 11 44331509 C G 320646 Benign Enlarged_parietal_foramina 0.42421 0.59144 0.47264 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8167 95903 11 45827350 A G 101799 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.27692 0.21137 0.25 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8168 261027 11 45832295 A G 254171 Benign not_specified 0.21655 0.17098 0.1887 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8169 95905 11 45832509 A G 101801 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.14342 0.09415 0.10284 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8170 261026 11 45832935 G A 254172 Benign Congenital_disorder_of_glycosylation|not_speci... 0.64021 0.67412 0.45128 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8171 304748 11 45833300 G A 327713 Likely_benign Congenital_disorder_of_glycosylation . . 0.03175 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8172 304755 11 45833960 C T 327715 Likely_benign Congenital_disorder_of_glycosylation . . 0.1246 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8173 304757 11 45834044 C T 314145 Benign Congenital_disorder_of_glycosylation . . 0.72065 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8174 304759 11 45834198 T C 326748 Benign Congenital_disorder_of_glycosylation . 0.77429 0.65375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8175 304760 11 45834201 C T 314146 Benign Congenital_disorder_of_glycosylation . 0.17013 0.1246 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8176 368962 11 45931218 T C 353191 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.03235 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8177 259547 11 45935384 A G 254173 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger)|... 0.81137 0.81545 0.6891 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8178 259546 11 45936035 G A 254174 Benign not_specified|not_provided 0.8066 0.81005 0.6849 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8179 802673 11 45937267 C T 791139 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8180 259544 11 45937306 C T 254176 Benign not_specified|not_provided 0.01976 . 0.01318 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8181 768444 11 46342081 TG T 778136 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8182 256315 11 46744925 G C 254180 Benign/Likely_benign Venous_thrombosis|Hereditary_factor_II_deficie... 0.53839 0.60261 0.45527 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8183 143996 11 46760756 G A 153726 Uncertain_significance Venous_thrombosis . . 0.28295 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8184 304838 11 46879973 A G 326840 Benign Syndactyly_Cenani_Lenz_type . . 0.58267 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8185 304850 11 46890165 C T 320781 Benign Syndactyly_Cenani_Lenz_type 0.66008 . 0.57967 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8186 304855 11 46893108 T C 326858 Benign Syndactyly_Cenani_Lenz_type 0.42531 . 0.36761 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8187 304872 11 46898771 T C 326874 Benign Syndactyly_Cenani_Lenz_type|not_specified 0.51615 0.5849 0.44589 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8188 304884 11 46914583 T C 320834 Benign Syndactyly_Cenani_Lenz_type 0.97923 0.98883 0.98083 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8189 304885 11 46914598 A G 327831 Benign Syndactyly_Cenani_Lenz_type 0.99577 0.99887 0.99461 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8190 188578 11 47354905 T C 186356 Benign not_specified 0.07868 0.10692 0.03295 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8191 680647 11 47362279 A G 665057 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8192 680646 11 47363285 G A 666044 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8193 680645 11 47369720 A G 666051 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8194 42763 11 47371484 AG A 51933 Benign/Likely_benign Cardiomyopathy|Hypertrophic_cardiomyopathy|Lef... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8195 403458 11 47431728 A G 390052 Benign Spondylocheirodysplasia,_Ehlers-Danlos_syndrom... 0.94413 0.98535 0.9405 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8196 384707 11 47434986 G A 372229 Benign not_specified 0.24581 . 0.27057 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8197 684034 11 47460005 T C 665908 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8198 669109 11 47460098 C T 665909 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8199 130089 11 47460306 A G 135535 Benign Pena-Shokeir_syndrome_type_I|not_specified|Con... 0.61231 0.68373 0.6248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8200 197249 11 47463483 AG A 194410 Benign Pena-Shokeir_syndrome_type_I|not_specified|Con... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8201 130091 11 47469439 A G 135537 Benign Pena-Shokeir_syndrome_type_I|not_specified|Con... 0.62011 0.68467 0.6256 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8202 679851 11 47470862 A C 666065 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8203 683070 11 47600352 A G 665750 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8204 768446 11 47788663 CGGTGGT C 701795 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8205 768448 11 51516144 A G 701804 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8206 668099 11 57427955 T C 665910 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8207 305042 11 59611362 G A 314350 Likely_benign Intrinsic_factor_deficiency 0.05881 0.07472 0.05371 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8208 1742 11 59612859 T C 16781 Benign Intrinsic_factor_deficiency,_congenital,_susce... . 0.06072 0.10264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8209 260747 11 61133604 C T 254215 Likely_benign not_specified 0.00046 0.00044 0.0002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8210 671928 11 61133980 G A 665081 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8211 667551 11 61135129 A G 665912 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8212 667552 11 61159661 T C 665914 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8213 126296 11 61165280 G A 131828 Benign Joubert_syndrome|Meckel-Gruber_syndrome|not_sp... 0.83228 0.86588 0.85583 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8214 167734 11 61165731 C CA 178098 Benign Joubert_syndrome|Meckel-Gruber_syndrome|Jouber... 0.82762 0.85933 0.85583 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8215 126297 11 61165741 G C 131829 Benign Joubert_syndrome|Meckel-Gruber_syndrome|Jouber... 0.70388 . 0.71965 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8216 305090 11 61166306 G A 314380 Benign Joubert_syndrome|Meckel-Gruber_syndrome . . 0.71965 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8217 260942 11 61205434 G A 254221 Benign not_specified 0.68659 0.8195 0.71805 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8218 305100 11 61213920 T C 327110 Benign Pheochromocytoma . . 0.86142 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8219 166753 11 61725599 A ATCCTCCTCC 177523 Benign/Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8220 193666 11 61730036 G A 190829 Benign Iron_Overload|Vitelliform_macular_dystrophy_ty... 0.23427 0.22712 0.11222 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8221 99680 11 61730183 C T 105569 Benign Iron_Overload|Vitelliform_macular_dystrophy_ty... 0.17051 0.17516 0.10144 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8222 99682 11 61730234 T C 105571 Benign Iron_Overload|Vitelliform_macular_dystrophy_ty... 0.39932 0.45834 0.59145 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8223 774693 11 61897404 C T 701832 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8224 167600 11 62381106 G C 178019 Benign not_specified|not_provided 0.93847 0.98221 0.9353 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8225 802680 11 62383715 G C 791146 Benign Multiple_joint_dislocations,_short_stature,_cr... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8226 684317 11 62438819 G T 665916 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8227 380147 11 62439569 G A 374164 Benign not_specified 0.67959 0.75856 0.7494 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8228 257496 11 62458663 A C 254222 Benign not_specified 0.02446 0.02209 0.00978 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8229 257500 11 62459994 A G 254223 Benign not_specified|not_provided 0.7305 0.7756 0.7494 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8230 678151 11 62460066 T C 665751 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8231 777228 11 63449138 C T 701849 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8232 683606 11 63742553 T G 665926 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8233 683608 11 63743420 A G 665934 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8234 402862 11 63986713 C A 390006 Benign not_specified 0.32632 . 0.3129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8235 402864 11 63988102 C T 390058 Benign not_specified 0.1585 0.18989 0.16294 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8236 305213 11 64358311 C T 321162 Benign Familial_renal_hypouricemia . . 0.38698 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8237 305218 11 64358605 T C 321164 Benign Familial_renal_hypouricemia . . 0.57189 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8238 305225 11 64358809 G A 327258 Benign Familial_renal_hypouricemia . . 0.38538 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8239 305230 11 64359286 C T 327262 Benign Familial_renal_hypouricemia|not_specified 0.53833 0.57795 0.38718 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8240 305233 11 64360274 T C 328343 Benign Familial_renal_hypouricemia|not_specified 0.53617 0.57511 0.38598 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8241 305241 11 64367325 A G 328349 Benign Familial_renal_hypouricemia|not_specified 0.97628 . 0.97684 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8242 305244 11 64367862 T C 321203 Benign Familial_renal_hypouricemia 0.31882 0.30331 0.39736 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8243 129833 11 64418900 G A 135279 Likely_benign not_specified 0.52416 . 0.38179 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8244 129837 11 64480641 G A 135283 Likely_benign not_specified 0.6844 0.72432 0.53355 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8245 680727 11 64520255 C G 666092 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8246 668605 11 64520374 T A 665950 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8247 259830 11 64520942 G T 254234 Benign not_specified 0.74946 0.81288 0.65895 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8248 259840 11 64525216 C T 254236 Benign not_specified 0.70199 0.79331 0.61242 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8249 134640 11 64572018 T C 138379 Benign not_specified|not_provided 0.90843 0.93778 0.83447 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8250 167288 11 64572557 A G 177834 Benign not_specified|not_provided 0.97615 0.99275 0.97604 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8251 96249 11 64572602 G A 102143 Benign/Likely_benign Hyperparathyroidism|Multiple_endocrine_neoplas... 0.30402 0.39335 0.30791 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8252 305317 11 64578113 T A 321251 Benign/Likely_benign Hyperparathyroidism|Multiple_endocrine_neoplas... . . 0.19728 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8253 305334 11 65485727 T G 327435 Benign Aicardi_Goutieres_syndrome . . 0.82488 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8254 402818 11 65631973 G A 390090 Benign not_specified 0.53078 0.57928 0.42991 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8255 402819 11 65632262 G T 390063 Benign not_specified 0.52986 . 0.42832 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8256 39015 11 65636053 T C 47618 Benign Autosomal_recessive_cutis_laxa_type_IA|Cutis_l... 0.89449 0.9695 0.89457 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8257 305388 11 65640204 C T 327479 Benign Cutis_laxa,_recessive|Autosomal_recessive_cuti... . 0.7917 0.62061 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8258 305400 11 65769780 T G 327485 Benign Nestor-Guillermo_progeria_syndrome . . 0.41793 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8259 305401 11 65769809 G C 314640 Benign Nestor-Guillermo_progeria_syndrome . . 0.67692 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8260 305419 11 65787666 G A 321354 Likely_benign Male_infertility 0.172 0.15605 0.16254 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8261 305421 11 65788072 C T 321357 Benign Male_infertility 0.96244 0.97965 0.9365 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8262 305433 11 65790527 G T 321362 Likely_benign Male_infertility 0.45452 0.51855 0.43191 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8263 770770 11 65819931 G T 701898 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8264 129869 11 66001418 C T 135315 Likely_benign not_specified 0.18784 0.17919 0.21106 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8265 129871 11 66006323 G C 135317 Likely_benign not_specified 0.20548 0.24239 0.22724 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8266 129872 11 66010633 T C 135318 Benign History_of_neurodevelopmental_disorder|not_spe... 0.98299 0.9954 0.98303 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8267 260057 11 66114900 C T 254254 Benign not_specified 0.12602 0.1722 0.13938 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8268 771747 11 66191840 G C 701922 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8269 261745 11 66299515 A G 254262 Benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.67662 0.58937 0.61282 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8270 305483 11 66300463 G A 314744 Benign Bardet-Biedl_syndrome . . 0.38459 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8271 259168 11 66331458 A G 254263 Benign Seizures|Ceroid_lipofuscinosis,_neuronal,_13|n... 0.62656 0.53003 0.58906 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8272 259172 11 66333598 C T 254267 Benign Seizures|Ceroid_lipofuscinosis,_neuronal,_13|n... 0.62656 0.53077 0.58886 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8273 259169 11 66335548 A G 254270 Benign Seizures|Ceroid_lipofuscinosis,_neuronal,_13|n... . . 0.58267 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8274 259166 11 66335832 G A 254271 Benign Seizures|Ceroid_lipofuscinosis,_neuronal,_13|n... . 0.48936 0.20787 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8275 285565 11 66472274 T C 269802 Benign not_specified 0.98815 0.99688 0.98782 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8276 262579 11 67223920 CA GC 254272 Conflicting_interpretations_of_pathogenicity not_specified|Congenital_Stationary_Night_Blin... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8277 305671 11 67227006 G A 328807 Benign Congenital_Stationary_Night_Blindness,_Recessive . . 0.28075 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8278 259205 11 67257823 C A 254275 Benign Hereditary_cancer-predisposing_syndrome|not_sp... 0.83426 0.95496 0.84545 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8279 4893 11 67258382 G A 19932 Conflicting_interpretations_of_pathogenicity Dopamine_agonist_response|Hereditary_cancer-pr... . 0.00146 . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8280 259206 11 67258391 A G 254276 Benign Hereditary_cancer-predisposing_syndrome|not_sp... 0.99977 0.99991 0.9994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8281 683144 11 67374156 A G 665148 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8282 683175 11 67377562 G A 665159 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8283 683178 11 67378229 T G 666146 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8284 305765 11 67800494 T G 328891 Benign Leigh_syndrome|Mitochondrial_complex_I_deficiency 0.9749 . 0.96865 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8285 235762 11 67807143 A AC 237442 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8286 235422 11 67813930 A G 237106 Benign not_provided . . 0.81969 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8287 235632 11 67814979 G C 237313 Benign not_specified|not_provided 0.97498 0.99275 0.96985 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8288 258634 11 68171013 T C 254279 Benign not_specified 0.81537 0.90006 0.84145 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8289 258638 11 68192690 G A 254283 Benign not_specified 0.52649 0.67548 0.57927 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8290 673761 11 68529358 C T 666162 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8291 673760 11 68529378 C G 665170 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8292 673759 11 68529410 G GA 665790 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8293 678064 11 68549019 T C 666165 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8294 166951 11 68549340 A G 177647 Benign not_specified 0.912 0.9313 0.89257 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8295 93975 11 68566839 G A 99877 Benign not_specified . 0.9375 0.90355 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8296 678470 11 68571777 G A 666006 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8297 668907 11 68671104 A G 665799 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8298 258575 11 68671477 T C 254288 Benign Spinal_muscular_atrophy|Spinal_muscular_atroph... 0.78761 0.75895 0.67512 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8299 668744 11 68673269 A T 665800 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8300 681863 11 68675512 G C 665171 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8301 668908 11 68678634 C T 666009 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8302 681878 11 68678718 G T 665811 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8303 258576 11 68678962 T C 254293 Benign Spinal_muscular_atrophy|Spinal_muscular_atroph... 0.77857 0.77189 0.68051 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8304 681884 11 68701118 C T 665186 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8305 681886 11 68702632 C T 665187 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8306 258566 11 68703959 A G 254303 Benign Spinal_muscular_atrophy|Spinal_muscular_atroph... 0.24677 0.29883 0.24621 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8307 258570 11 68704264 C T 254306 Benign Spinal_muscular_atrophy|Spinal_muscular_atroph... 0.24761 0.29885 0.24621 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8308 681879 11 68705504 G T 666016 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8309 194368 11 68705674 C A 191531 Benign Spinal_muscular_atrophy|Spinal_muscular_atroph... 0.21012 . 0.19709 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8310 637890 11 68705876 G A 625259 Benign not_specified . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8311 681881 11 68705936 T G 666017 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8312 681882 11 68706759 C T 665189 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8313 681883 11 68706848 G A 665823 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8314 305868 11 68707454 T C 321822 Benign Spinal_muscular_atrophy . . 0.67093 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8315 305872 11 68707626 C T 315023 Benign Spinal_muscular_atrophy . . 0.19669 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8316 727 11 68846399 A T 15766 association Skin/hair/eye_pigmentation,_variation_in,_10 . . 0.09964 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8317 13755 11 69462910 G A 28794 risk_factor VON_HIPPEL-LINDAU_SYNDROME,_MODIFIER_OF|Colore... 0.38674 0.45513 0.41354 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8318 305881 11 70314597 T A 327887 Likely_benign Autism_spectrum_disorder . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8319 305889 11 70316391 A G 315045 Likely_benign Autism_spectrum_disorder . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8320 305931 11 70935766 T C 321887 Likely_benign Autism_spectrum_disorder . . 0.74681 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8321 305936 11 71145687 T C 315071 Benign Smith-Lemli-Opitz_syndrome . . 0.77356 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8322 305940 11 71145778 G A 329056 Benign Smith-Lemli-Opitz_syndrome . . 0.74361 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8323 305949 11 71146302 C T 329073 Uncertain_significance Smith-Lemli-Opitz_syndrome . . 0.00439 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8324 93707 11 71146691 A G 99610 Benign Smith-Lemli-Opitz_syndrome|History_of_neurodev... 0.87119 0.85312 0.75639 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8325 673331 11 71150217 C T 665829 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8326 679282 11 71150296 C T 666173 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8327 93719 11 71152461 A G 99622 Benign Smith-Lemli-Opitz_syndrome|History_of_neurodev... 0.90999 . 0.80731 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8328 679281 11 71154820 G A 665194 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8329 93715 11 71155153 A G 99618 Benign Smith-Lemli-Opitz_syndrome|History_of_neurodev... 0.91292 0.8755 0.8101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8330 93713 11 71155171 C T 99616 Benign/Likely_benign Smith-Lemli-Opitz_syndrome|History_of_neurodev... 0.62691 0.57185 0.40096 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8331 667656 11 71155641 A G 666175 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8332 305969 11 71159429 G A 327973 Likely_benign Smith-Lemli-Opitz_syndrome . . 0.35344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8333 683470 11 72118827 C A 665207 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8334 306034 11 74166278 G A 315142 Likely_benign Brugada_syndrome . . 0.59605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8335 306035 11 74166320 T G 329246 Likely_benign Brugada_syndrome . . 0.42472 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8336 306045 11 74166859 A G 328028 Likely_benign Brugada_syndrome . . 0.59565 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8337 306046 11 74166866 G A 321937 Likely_benign Brugada_syndrome . . 0.56709 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8338 306063 11 74167374 C CAAAA 329302 Uncertain_significance Brugada_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8339 306066 11 74167409 T C 328059 Likely_benign Brugada_syndrome . . 0.56669 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8340 5541 11 74168361 C T 20580 Conflicting_interpretations_of_pathogenicity Ventricular_fibrillation|Syncope|Cardiomyopath... . 0.00297 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8341 683555 11 74168982 T C 666203 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8342 195141 11 75277628 A G 192302 Benign not_specified|Osteogenesis_Imperfecta,_Recessive 0.91301 0.89952 0.88998 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8343 306105 11 75277992 C T 315181 Benign not_specified|Osteogenesis_Imperfecta,_Recessive 0.4257 0.43999 0.29932 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8344 667595 11 75279539 C T 666211 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8345 667596 11 75280478 T A 666214 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8346 306115 11 75283253 A G 328131 Benign Osteogenesis_Imperfecta,_Recessive . . 0.2478 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8347 259225 11 76827360 A G 254323 Benign not_specified 0.31824 0.31375 0.35543 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8348 43258 11 76853783 T C 52428 Benign Usher_syndrome,_type_1|Retinitis_pigmentosa-de... 0.46859 . 0.51358 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8349 43343 11 76868372 T C 52513 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.47559 . 0.47404 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8350 680660 11 76869774 C G 665243 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8351 678821 11 76870634 T C 666050 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8352 680661 11 76872414 C G 666223 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8353 670353 11 76873620 T C 666240 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8354 680664 11 76874296 A G 666056 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8355 678822 11 76876976 G GT 665244 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8356 680662 11 76877491 T C 666061 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8357 678823 11 76884122 A T 666242 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8358 255661 11 76885779 G A 254327 Benign not_specified|not_provided 0.52803 0.5432 0.48562 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8359 678824 11 76886718 G A 666248 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8360 670355 11 76890242 T C 666255 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8361 678825 11 76890400 T C 666068 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8362 680663 11 76890444 A G 665245 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8363 678826 11 76891585 G A 666070 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8364 678827 11 76891661 A G 665840 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8365 670356 11 76892368 C G 666071 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8366 670357 11 76892943 A G 666073 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8367 678829 11 76893401 G A 666262 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8368 255662 11 76894235 G C 254328 Benign not_specified|not_provided 0.61907 . 0.55511 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8369 680668 11 76900078 G A 665847 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8370 678830 11 76900267 G A 665248 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8371 670359 11 76901273 C T 666076 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8372 678831 11 76901623 T TGCTGGGGCCTGGAGC 666267 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8373 670360 11 76901648 C G 665848 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8374 43226 11 76901927 C T 52396 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.48553 0.53761 0.46845 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8375 670361 11 76902024 G A 665852 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8376 678832 11 76902853 A G 666272 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8377 678833 11 76902927 C T 666078 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8378 670377 11 76903003 C G 665250 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8379 255663 11 76905604 G T 254329 Benign not_specified|not_provided 0.58157 0.56449 0.54533 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8380 670379 11 76905725 C T 665252 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8381 673900 11 76908319 C G 665854 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8382 673901 11 76908324 A G 665856 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8383 673902 11 76908976 C A 666274 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8384 680669 11 76910319 C T 665258 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8385 43257 11 76910766 C T 52427 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.45732 0.50829 0.43251 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8386 43269 11 76912636 A T 52439 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.58911 0.54399 0.55172 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8387 678835 11 76913098 T C 665861 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8388 670381 11 76915436 C G 665872 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8389 678838 11 76916424 A G 665262 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8390 670382 11 76916967 A G 665877 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8391 43296 11 76917220 A G 52466 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.55373 0.52321 0.55491 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8392 680670 11 76918072 G C 665878 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8393 43297 11 76918322 T C 52467 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.63295 0.63298 0.59345 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8394 255664 11 76918497 G A 254330 Benign not_specified|not_provided 0.57457 0.53913 0.51298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8395 43303 11 76919468 A T 52473 Benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.55965 0.5675 0.51298 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8396 43304 11 76919478 C A 52474 Benign Deafness,_autosomal_recessive_2|Retinitis_pigm... 0.54921 . 0.499 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8397 674387 11 76919619 G A 666080 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8398 674388 11 76919629 C T 665881 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8399 43315 11 76919865 T A 52485 Benign not_specified 0.56479 0.54452 0.51298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8400 678839 11 76920003 T C 665263 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8401 678840 11 76920038 T G 666083 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8402 678841 11 76920082 C G 666087 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8403 680671 11 76920111 G A 666279 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8404 43323 11 76922868 C T 52493 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.03163 0.02673 0.01597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8405 43324 11 76922946 G A 52494 Benign/Likely_benign Retinitis_pigmentosa-deafness_syndrome|not_spe... 0.24683 0.18056 0.19569 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8406 255665 11 76924130 A T 254331 Benign not_specified|not_provided 0.87256 0.90448 0.80771 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8407 43332 11 76925040 G A 52502 Benign not_specified 0.18837 0.20005 0.11102 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8408 670385 11 76925075 G T 665884 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8409 680675 11 76925395 T C 666287 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8410 306210 11 76926245 C T 315259 Likely_benign Retinitis_pigmentosa-deafness_syndrome|Nonsynd... . . 0.03395 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8411 96088 11 77811990 T C 101982 Benign Congenital_disorder_of_glycosylation|Congenita... 0.88039 0.83191 0.83267 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8412 261683 11 77820670 T C 254333 Benign not_specified 0.22874 0.19526 0.25859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8413 261684 11 77820673 T C 254334 Benign not_specified 0.22897 0.19471 0.25839 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8414 261682 11 77825064 A G 254335 Benign not_specified 0.22436 0.22537 0.25879 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8415 96092 11 77825320 T C 101986 Benign/Likely_benign Congenital_disorder_of_glycosylation|Congenita... 0.17653 0.19908 0.14637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8416 261680 11 77832076 T A 254337 Benign not_specified 0.99992 0.99999 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8417 667638 11 78204406 C T 665895 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8418 682659 11 78204561 A G 666301 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8419 682658 11 78270304 A G 665276 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8420 380001 11 78277277 A G 371732 Benign not_specified 0.73417 0.71624 0.65056 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8421 380000 11 78279790 T G 372457 Benign Combined_oxidative_phosphorylation_deficiency_... 0.79071 0.73817 0.71006 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8422 682656 11 78285096 T G 666099 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8423 379999 11 78285875 A T 372729 Benign not_specified . . 0.60843 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8424 671602 11 85339344 C T 666324 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8425 684192 11 85339380 T A 666328 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8426 671603 11 85340591 C T 666122 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8427 671604 11 85342959 T C 665901 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8428 215269 11 85359094 A AGACC 211570 Benign not_specified|Optic_Atrophy,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8429 676442 11 85366516 C G 666342 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8430 262022 11 85366762 A G 254360 Benign not_specified|Optic_Atrophy,_Recessive|not_pro... 0.25608 0.28538 0.376 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8431 403297 11 85692181 A C 390064 Benign not_specified 0.60328 . 0.6228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8432 403298 11 85718641 T C 390024 Benign not_specified 0.16913 . 0.23203 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8433 403299 11 85725937 C T 390092 Benign not_specified 0.8341 0.78612 0.78874 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8434 306335 11 86657520 A G 328331 Benign Familial_exudative_vitreoretinopathy . . 0.50998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8435 306350 11 86658243 TCAAACAAA TCAAA,T 315395 Uncertain_significance Familial_exudative_vitreoretinopathy . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
8436 306365 11 86659213 A G 315414 Benign Familial_exudative_vitreoretinopathy . . 0.19309 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8437 306385 11 86660886 G A 315440 Benign Familial_exudative_vitreoretinopathy . . 0.70367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8438 258191 11 88033661 A G 254362 Benign not_specified 0.86529 . 0.93011 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8439 402572 11 88045583 A G 389960 Benign not_specified 0.86408 0.88608 0.93091 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8440 3783 11 88910923 C A 18822 Benign Tyrosinase-negative_oculocutaneous_albinism|no... . . 0.1859 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8441 3779 11 89017961 G A 18818 Conflicting_interpretations_of_pathogenicity Albinism|Abnormality_of_metabolism/homeostasis... . 0.17697 0.08127 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8442 3777 11 89017973 C T 18816 Pathogenic/Likely_pathogenic Inborn_genetic_diseases|Oculocutaneous_albinis... 0.00362 0.00349 0.002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8443 518245 11 93527219 T C 508868 Benign Microcephaly,_postnatal_progressive,_with_seiz... 0.93991 . 0.93311 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8444 129597 11 93529655 G A 135043 Benign Microcephaly,_postnatal_progressive,_with_seiz... 0.10979 0.11853 0.11322 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8445 306450 11 94150790 T C 315480 Benign Ataxia-telangiectasia-like_disorder_1 . . 0.23423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8446 193884 11 94197260 A G 191047 Benign Ataxia-telangiectasia-like_disorder_1|not_spec... 0.35213 0.37831 0.38878 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8447 129623 11 94212048 C T 135069 Benign Ataxia-telangiectasia-like_disorder_1|not_spec... 0.26958 0.32523 0.3131 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8448 259798 11 94225920 C T 254368 Benign not_specified 0.41014 . 0.45727 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8449 403103 11 94231257 C G 390028 Benign not_specified 0.58978 0.54109 0.54752 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8450 802713 11 95564259 A G 791184 Benign Mosaic_variegated_aneuploidy_syndrome_2 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8451 306505 11 95566502 C T 329846 Likely_benign Charcot-Marie-Tooth_disease_type_4 . . 0.02017 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8452 306506 11 95566520 A G 315510 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.20347 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8453 306511 11 95566886 G A 315515 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.20248 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8454 306514 11 95567035 C T 328558 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.20347 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8455 306527 11 95567905 C T 328580 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.20208 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8456 683220 11 95568757 C A 665290 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8457 683218 11 95569183 G A 666350 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8458 683219 11 95569253 A C 665292 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8459 668751 11 95570961 G A 665907 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8460 683217 11 95577929 T C 666355 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8461 260685 11 95580926 G A 254369 Benign Charcot-Marie-Tooth_disease,_type_4B1|Charcot-... 0.29805 0.29799 0.20927 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8462 683215 11 95583995 A G 665294 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8463 684384 11 95594831 A G 665928 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8464 673447 11 95595694 T C 666372 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8465 683213 11 95598629 A G 666132 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8466 260686 11 95657111 T G 254370 Benign Charcot-Marie-Tooth_disease,_type_4B1|Charcot-... 0.23982 . 0.21286 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8467 768471 11 99690428 T G 702050 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8468 301884 11 101322975 C CTAAA 312031 Benign Focal_segmental_glomerulosclerosis . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8469 162146 11 102470256 A G 171859 not_provided not_provided . . 0.1266 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8470 259539 11 102495998 T G 253985 Benign not_specified|Amelogenesis_Imperfecta,_Recessive 0.63742 . 0.67652 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8471 403099 11 102593248 T C 389935 Benign not_specified 0.55345 0.54235 0.60004 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8472 403100 11 102595492 G A 389939 Benign not_specified 0.62265 0.59715 0.65435 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8473 403092 11 102666316 T C 389957 Benign not_specified 0.95863 0.93036 0.93131 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8474 403093 11 102668022 C T 389961 Benign not_specified 0.08313 0.05837 0.07228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8475 802715 11 102668603 CA CAA,C 791023 Benign Preterm_premature_rupture_of_membranes . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
8476 667691 11 103004929 C G 665391 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8477 302018 11 103006557 G A 312103 Benign/Likely_benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.03227 0.04314 0.04153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8478 667693 11 103019633 A G 665389 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8479 667694 11 103023735 A T 664787 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8480 669444 11 103024489 G T 665661 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8481 669446 11 103025666 A C 665396 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8482 196009 11 103029516 A G 193170 Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.67208 0.71263 0.66833 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8483 379420 11 103036743 C G 371669 Benign not_specified|not_provided 0.02197 0.02095 0.01458 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8484 302040 11 103039680 T C 312117 Conflicting_interpretations_of_pathogenicity Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.00017 0.0003 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8485 667695 11 103041197 T C 665407 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8486 667714 11 103042047 T C 665664 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8487 674031 11 103043599 G A 665409 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8488 167011 11 103047007 C A 177681 Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.94462 0.91783 0.93131 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8489 667716 11 103050219 G C 665665 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8490 302056 11 103057048 A G 312136 Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.59755 . 0.57149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8491 667717 11 103057411 T G 665411 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8492 93529 11 103058126 C T 99434 Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.64377 0.63296 0.61701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8493 667718 11 103059091 A G 664814 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8494 667719 11 103061960 G C 665461 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8495 667720 11 103068444 G A 664817 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8496 669450 11 103068941 G A 665687 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8497 669451 11 103070545 A G 665422 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8498 667721 11 103074639 C A 665425 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8499 667722 11 103074658 A G 665434 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8500 667723 11 103075233 T A 664819 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8501 302073 11 103082590 G A 317856 Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.75444 0.78735 0.73842 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8502 667724 11 103086725 C G 665690 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8503 667725 11 103090472 A C 665696 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8504 667726 11 103090885 G A 665699 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8505 667727 11 103090972 A T 664820 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8506 667728 11 103092572 G A 665700 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8507 667746 11 103093490 A T 665468 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8508 667747 11 103094140 C G 665441 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8509 667748 11 103101868 G C 665473 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8510 669452 11 103102327 A ATAT 665444 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8511 667751 11 103116366 C T 665477 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8512 93527 11 103123999 G T 99432 Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.38754 0.37645 0.42931 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8513 667752 11 103124328 T C 665467 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8514 669456 11 103150870 G T 665475 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8515 667755 11 103151437 C T 665720 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8516 669457 11 103152598 G A 665481 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8517 667756 11 103158542 A C 665486 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8518 669922 11 103173558 G A 665488 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8519 667759 11 103178820 G A 665491 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8520 669923 11 103182320 A G 665726 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8521 93528 11 103182774 C A 99433 Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.1235 . 0.13359 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8522 667776 11 103183045 T G 665730 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8523 667786 11 103192089 G C 664847 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8524 667788 11 103194949 T C 665747 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8525 302117 11 103229027 T C 317899 Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_... 0.55842 0.65891 0.49501 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8526 667790 11 103229238 G A 665754 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8527 669930 11 103229274 T C 664854 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8528 667808 11 103229313 T A 664858 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8529 226013 11 103418158 A G 227832 drug_response Platinum_compounds_response_-_Toxicity/ADR|eto... . . 0.4371 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8530 402491 11 104761100 T C 389897 Benign not_specified . 0.99939 0.9976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8531 2171 11 104763117 G A 17210 Likely_benign Sepsis,_susceptibility_to|not_specified . 0.98562 0.94848 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8532 632624 11 108012510 A AAAGT 621797 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8533 302240 11 108093833 G A 318028 Benign Ataxia-telangiectasia_syndrome|not_provided . . 0.47604 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8534 181847 11 108121410 C CT,CTT 180398 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
8535 439418 11 108143182 C T 433369 Benign Ataxia-telangiectasia_syndrome . . 0.65256 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8536 181857 11 108150207 CT C 180439 Benign/Likely_benign Ataxia-telangiectasia_syndrome|Hereditary_canc... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8537 181858 11 108151707 T TA 180443 Benign/Likely_benign Ataxia-telangiectasia_syndrome|Hereditary_canc... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8538 489536 11 108152582 C T 482779 Benign Hereditary_cancer-predisposing_syndrome . . 0.51158 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8539 516633 11 108158134 T C 503053 Benign not_specified|not_provided . . 0.51178 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8540 128458 11 108175462 G A 133907 Benign/Likely_benign Ataxia-telangiectasia_syndrome|Hereditary_canc... 0.10232 0.11014 0.06689 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8541 133627 11 108183167 A G 137366 Benign not_specified|not_provided . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8542 632649 11 108196509 G C 621801 Benign not_specified . . 0.53494 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8543 633055 11 108196712 CATT C 621803 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8544 302265 11 108236783 G T 324952 Benign Ataxia-telangiectasia_syndrome . . 0.51837 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8545 302272 11 108237839 C T 324093 Benign Ataxia-telangiectasia_syndrome . . 0.51817 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8546 302285 11 108238939 A AT 312262 Uncertain_significance Ataxia-telangiectasia_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8547 302299 11 108239628 G T 324138 Benign Ataxia-telangiectasia_syndrome . . 0.53455 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8548 225942 11 108283161 C A 227817 drug_response metformin_response_-_Efficacy . . 0.46845 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8549 302333 11 110101670 GA G 318158 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8550 302379 11 111654620 CTATAT C 318212 Likely_benign Congenital_disorder_of_glycosylation . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8551 302382 11 111654641 GT G 325030 Uncertain_significance Congenital_disorder_of_glycosylation . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8552 302385 11 111654648 T A 324294 Uncertain_significance Congenital_disorder_of_glycosylation . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8553 672477 11 111780837 G A 665558 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8554 44234 11 111781047 A C 53401 Benign Posterior_polar_cataract|Alpha-B_crystallinopa... 0.27239 . 0.23982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8555 680264 11 111782697 G C 665554 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8556 683732 11 111914449 G A 665556 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8557 44648 11 111966307 T C 53815 Benign Pheochromocytoma|not_specified . . 0.9361 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8558 198436 11 113283459 G A 195597 Benign/Likely_benign not_specified 0.40888 0.41577 0.24401 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8559 256814 11 113283477 A G 253992 Benign not_specified 0.59628 0.64111 0.52656 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8560 256813 11 113283484 G C 253993 Benign Dystonia|not_specified 0.01693 0.02641 0.03175 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8561 225963 11 113346351 T C 227820 drug_response not_specified|risperidone_response_-_Efficacy . . 0.11901 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8562 508109 11 113561054 A G 503143 Benign not_specified 0.73615 0.6959 0.77017 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8563 508108 11 113561057 A G 504043 Benign not_specified 0.7348 0.69614 0.77017 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8564 508146 11 113565322 C A 503152 Benign not_specified 0.09732 0.09012 0.08946 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8565 508107 11 113570405 T C 503712 Benign not_specified 0.74213 0.73157 0.77077 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8566 508106 11 113570852 C T 503716 Benign not_specified 0.20023 0.34307 0.21386 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8567 777860 11 113815354 T G 701564 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8568 127141 11 116660686 G A 132639 risk_factor Hypertriglyceridemia,_susceptibility_to . . 0.8742 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8569 496495 11 116662331 G T 487403 Benign not_provided 0.10239 0.10972 0.09066 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8570 4403 11 116662407 G C 19442 risk_factor Hypertriglyceridemia,_susceptibility_to . . 0.05571 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8571 548114 11 116663707 G A 538603 drug_response lovastatin_response_-_Efficacy|atorvastatin_re... . . 0.83706 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8572 518235 11 116701535 T C 508859 Benign Hyperalphalipoproteinemia_2|not_provided 0.74065 0.6542 0.59705 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8573 260475 11 117252489 T C 253998 Benign not_specified 0.93593 0.91239 0.90136 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8574 260483 11 117266754 A C 254004 Benign not_specified 0.62783 0.55186 0.52736 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8575 260485 11 117267884 A G 254006 Benign not_specified 0.53386 0.48519 0.46326 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8576 260490 11 117282800 G T 254011 Benign not_specified 0.9646 0.9383 0.90835 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8577 302515 11 117690918 A C 318307 Benign Renal_Hypomagnesemia,_Dominant . . 0.19289 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8578 302546 11 117864047 A G 318326 Benign Inflammatory_bowel_disease|not_specified 0.50139 0.52734 0.51677 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8579 302554 11 117869670 A G 318357 Benign Inflammatory_bowel_disease|not_specified 0.72845 0.73814 0.8111 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8580 302580 11 117872086 G A 318366 Benign Inflammatory_bowel_disease . 0.50202 0.5597 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8581 302584 11 118004463 C T 324524 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . 0.00787 0.002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8582 302585 11 118004688 A G 324528 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . 0.6682 0.64078 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8583 302591 11 118004863 A G 312473 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . 0.2334 0.15955 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8584 302594 11 118005119 T C 318395 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . 0.23128 0.15735 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8585 302604 11 118005622 T G 312477 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . 0.23196 0.15934 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8586 302615 11 118006408 C T 312485 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . 0.43375 0.41973 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8587 302629 11 118006807 A AGGGGGAGAAGC 312495 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . 0.29127 0.28474 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8588 302635 11 118006957 C T 318464 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome . 0.65817 0.61621 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8589 671916 11 118011776 G A 665565 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8590 671915 11 118011805 C T 665604 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8591 671914 11 118012164 G A 665568 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8592 403419 11 118016068 C T 389847 Benign not_specified|not_provided . 0.68198 0.6849 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8593 259446 11 118037813 G T 254012 Benign not_specified 0.43811 0.50219 0.51438 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8594 518236 11 118209960 A C 508860 Benign Severe_combined_immunodeficiency,_autosomal_re... 0.61407 0.67521 0.6258 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8595 302678 11 118215075 AGGCT A 312525 Benign/Likely_benign Immunodeficiency_due_to_defect_in_CD3-gamma|Se... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8596 474799 11 118221349 TG CT 460944 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8597 302688 11 118224059 A G 318503 Likely_benign Immunodeficiency_due_to_defect_in_CD3-gamma . . 0.07208 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8598 302693 11 118224268 G T 324614 Likely_benign Immunodeficiency_due_to_defect_in_CD3-gamma . . 0.29772 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8599 768489 11 118529017 T G 701599 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8600 377170 11 118533594 T C 364048 Likely_benign not_provided 0.00415 0.00714 0.0016 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8601 402412 11 118769442 A G 389959 Benign not_specified 0.4859 0.42462 0.44409 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8602 302701 11 118895495 C G 318535 Benign Glycogen_storage_disease,_type_I . . 0.28355 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8603 139192 11 118895686 C T 142895 Benign not_specified 0.25572 0.21875 0.2478 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8604 139190 11 118898319 G A 142893 Benign not_specified 0.11585 0.10566 0.07748 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8605 801370 11 118898435 AC A 789809 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8606 779603 11 118900338 G A 779515 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8607 302718 11 118901166 C G 325405 Benign Glycogen_storage_disease,_type_I . . 0.84964 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8608 255487 11 118959331 G A 254014 Benign Acute_intermittent_porphyria|not_specified 0.62517 0.55806 0.57288 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8609 255486 11 118962816 C A 254016 Benign Acute_intermittent_porphyria|not_specified 0.22633 . 0.3147 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8610 561493 11 119144402 A G 552641 Benign not_provided . . 0.98722 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8611 55796 11 119148573 G T 70452 Benign Noonan_syndrome-like_disorder_with_or_without_... 0.62458 0.60112 0.72863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8612 302792 11 119170855 T TGG 324752 Benign Noonan-Like_Syndrome_Disorder . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8613 302818 11 119172536 A G 312630 Benign Noonan-Like_Syndrome_Disorder . . 0.21925 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8614 302829 11 119173587 C G 325571 Likely_benign Noonan-Like_Syndrome_Disorder . . 0.00739 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8615 302852 11 119175075 C A 318699 Benign Noonan-Like_Syndrome_Disorder . . 0.39677 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8616 302858 11 119175422 T C 312665 Benign Noonan-Like_Syndrome_Disorder . . 0.9994 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8617 302901 11 119177938 A G 318734 Benign Noonan-Like_Syndrome_Disorder . . 0.23243 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8618 302902 11 119178050 C G 324826 Benign Noonan-Like_Syndrome_Disorder . . 0.41214 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8619 198596 11 119215476 G A 195757 Conflicting_interpretations_of_pathogenicity Retinal_degeneration|Microphthalmia,_isolated_... 0.00216 0.00282 0.002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8620 167297 11 119216231 A G 177837 Benign/Likely_benign Retinal_degeneration|Microphthalmia,_isolated_... 0.9277 . 0.90196 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8621 143157 11 119216279 G A 152875 Benign/Likely_benign Retinal_degeneration|Microphthalmia,_isolated_... 0.22505 . 0.20148 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8622 167299 11 119216504 C T 177134 Benign/Likely_benign Retinal_degeneration|Microphthalmia,_isolated_... 0.24638 0.26636 0.18211 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8623 302982 11 119217254 C T 325780 Likely_benign Retinal_degeneration|Microphthalmia,_isolated_6 0.56729 0.59509 0.63558 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8624 302987 11 119217311 G A 324926 Likely_benign Retinal_degeneration|Microphthalmia,_isolated_6 . . 0.58387 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8625 802808 11 119510644 A C 791116 Benign Cleft_lip/palate-ectodermal_dysplasia_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8626 225967 11 120663363 T C 227821 drug_response not_specified|antidepressants_response_-_Efficacy . . 0.5022 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8627 45315 11 120996292 A G 54482 Benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.77069 0.71165 0.77217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8628 45319 11 120998942 C T 54486 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.25738 0.30875 0.3103 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8629 45323 11 121000784 T C 54490 Benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.74631 0.7041 0.7514 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8630 45336 11 121032978 G A 54503 Benign Deafness,_autosomal_dominant_12|not_specified|... 0.99208 0.99267 0.99681 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8631 45338 11 121038810 C T 54505 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.09882 0.16896 0.1853 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8632 303057 11 121178302 A C 312876 Benign Lathosterolosis . . 0.72464 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8633 303070 11 121179847 A T 318905 Benign Lathosterolosis . . 0.42213 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8634 303099 11 121181848 A G 325089 Benign Lathosterolosis . . 0.15695 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8635 303108 11 121183145 T C 318954 Benign Lathosterolosis . . 0.39337 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8636 671838 11 123504673 C G 664951 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8637 670950 11 123504959 C G 665579 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8638 671837 11 123505099 C T 664953 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8639 261028 11 123513161 G A 254022 Benign/Likely_benign Brugada_syndrome|not_specified|Cardiovascular_... 0.09022 0.0896 0.08207 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8640 674316 11 123513512 G A 664964 Likely_benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8641 768493 11 123894136 A G 701641 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8642 303262 11 124747837 G A 326080 Benign Gaze_palsy,_familial_horizontal,_with_progress... 0.7288 0.67853 0.63199 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8643 303279 11 124750447 CCGGAGT C 325249 Benign Gaze_palsy,_familial_horizontal,_with_progress... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8644 303289 11 124789232 A AAAAC 313075 Benign Megalencephalic_leukoencephalopathy_with_subco... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8645 303295 11 124789755 T C 326092 Benign Megalencephalic_leukoencephalopathy_with_subco... 0.75481 0.73712 0.79892 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8646 303319 11 124790922 C A 326109 Benign Megalencephalic_leukoencephalopathy_with_subco... . . 0.1885 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8647 262682 11 124792627 G A 254025 Benign Megalencephalic_leukoencephalopathy_with_subco... 0.15392 0.10635 0.14297 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8648 262681 11 124793682 T C 254026 Benign Megalencephalic_leukoencephalopathy_with_subco... 0.75192 0.72861 0.79393 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8649 262680 11 124793716 G A 254027 Benign Megalencephalic_leukoencephalopathy_with_subco... 0.22262 . 0.13598 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8650 387269 11 125462830 A G 372271 Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8651 380012 11 125465862 T C 372052 Benign not_specified 0.11569 0.0745 0.10463 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8652 380013 11 125465905 G T 372273 Benign not_specified 0.07546 0.05993 0.05831 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8653 380014 11 125476252 C G 373936 Benign not_specified 0.115 . 0.10363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8654 380015 11 125479363 G A 372061 Benign not_specified 0.41269 0.3694 0.41933 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8655 380031 11 125479496 C T 373938 Benign not_specified 0.28985 0.29628 0.30831 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8656 380016 11 125482650 G A 373944 Benign not_specified 0.07569 0.05981 0.05751 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8657 380017 11 125488404 C T 372289 Benign not_specified 0.12269 0.07629 0.11122 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8658 496139 11 125525195 A G 487497 Benign not_provided 0.97385 0.9726 0.98582 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8659 303347 11 125753589 C T 319169 Benign Hydrolethalus_syndrome . . 0.85443 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8660 303351 11 125761318 G GTT 313115 Benign Hydrolethalus_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8661 303368 11 125770425 A C 319178 Benign Hydrolethalus_syndrome . . 0.16913 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8662 368942 11 125826702 G A 353171 Benign Holoprosencephaly_sequence . . 0.4972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8663 303374 11 125826785 G A 326221 Likely_benign Holoprosencephaly_sequence . . 0.24022 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8664 303378 11 125826953 A C 313133 Benign Holoprosencephaly_sequence . . 0.27256 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8665 303379 11 125826975 C A 325340 Likely_benign Holoprosencephaly_sequence . . 0.03255 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8666 303397 11 125828007 T C 326250 Benign Holoprosencephaly_sequence . . 0.50559 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8667 303400 11 125828097 A G 313146 Benign Holoprosencephaly_sequence . . 0.51857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8668 303450 11 125828904 T C 325385 Benign Holoprosencephaly_sequence . . 0.49501 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8669 303481 11 125830227 A AT 326386 Uncertain_significance Holoprosencephaly_sequence . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8670 303488 11 125830697 T C 319273 Likely_benign Holoprosencephaly_sequence . . 0.24241 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8671 260799 11 125830970 A T 254031 Benign Holoprosencephaly_sequence|Holoprosencephaly_1... 0.73 0.73099 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8672 260797 11 125831701 G A 254033 Benign Holoprosencephaly_sequence|not_specified 0.25308 . 0.24221 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8673 260793 11 125848261 C T 254035 Benign Holoprosencephaly_sequence|not_specified 0.35646 0.41429 0.39956 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8674 260792 11 125851055 A G 254036 Benign Holoprosencephaly_sequence|not_specified 0.334 0.25817 0.26817 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8675 260791 11 125851181 G A 254037 Benign Holoprosencephaly_sequence|not_specified 0.334 . 0.26757 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8676 260788 11 125864326 T C 254040 Benign not_specified 0.29446 0.32745 0.3121 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8677 260786 11 125867053 G T 254042 Benign not_specified 0.92085 . 0.94149 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8678 260784 11 125871735 C T 254044 Benign Holoprosencephaly_sequence|not_specified 0.34539 0.31269 0.30252 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8679 193724 11 125873968 C G 190887 Conflicting_interpretations_of_pathogenicity Holoprosencephaly_sequence|not_provided 0.00054 0.00062 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8680 303517 11 125875959 GGAGA G 319328 Uncertain_significance Holoprosencephaly_sequence . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8681 260794 11 125891103 C CA 254054 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8682 95753 11 125891162 A G 101650 Benign/Likely_benign Holoprosencephaly_sequence|Holoprosencephaly_1... 0.04054 0.03712 0.02636 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8683 95752 11 125891269 C T 101649 Benign Holoprosencephaly_sequence|not_specified 0.64515 0.55732 0.57228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8684 303532 11 126139100 T C 313196 Benign Mitochondrial_complex_I_deficiency|not_provided 0.69488 0.78907 0.78614 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8685 678089 11 126141134 A AAAGG 665832 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8686 303547 11 126147697 G A 313203 Likely_benign Mitochondrial_complex_I_deficiency . . 0.13139 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8687 257673 11 126277216 C T 254057 Benign not_specified 0.31936 0.31618 0.34625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8688 257674 11 126278075 C T 254058 Benign not_specified 0.31759 0.31395 0.34485 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8689 129425 11 126294817 G A 134871 Likely_benign not_specified 0.66483 0.67128 0.70367 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8690 129427 11 126391297 T G 134873 Likely_benign not_specified 0.27995 0.27042 0.22484 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8691 303553 11 128707975 G C 325499 Benign Antenatal_Bartter_Syndrome . . 0.16434 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8692 303554 11 128708009 G A 313219 Benign Antenatal_Bartter_Syndrome . . 0.15735 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8693 303556 11 128708344 T C 313220 Benign Antenatal_Bartter_Syndrome . . 0.16653 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8694 303561 11 128708518 C CTTG 313240 Benign Antenatal_Bartter_Syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8695 303567 11 128708947 T A 326461 Benign Antenatal_Bartter_Syndrome . . 0.16653 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8696 137990 11 128781339 T C 141693 Benign Romano-Ward_syndrome|Familial_hyperaldosteroni... 0.84826 0.84356 0.86981 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8697 137991 11 128781978 T G 141694 Benign Romano-Ward_syndrome|Familial_hyperaldosteroni... 0.84272 0.84144 0.86621 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8698 137992 11 128782002 T C 141695 Benign Romano-Ward_syndrome|Familial_hyperaldosteroni... 0.84395 0.84159 0.86701 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8699 137993 11 128782012 C G 141696 Benign Romano-Ward_syndrome|Familial_hyperaldosteroni... 0.98707 0.98648 0.99501 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8700 672206 11 128782214 G A 665653 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8701 137995 11 128786294 G A 141698 Benign Romano-Ward_syndrome|Familial_hyperaldosteroni... 0.74785 0.7346 0.73582 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8702 303640 11 128787001 T TC 325560 Benign Romano-Ward_syndrome|Familial_hyperaldosteronism . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8703 303641 11 128787036 C T 313305 Benign Romano-Ward_syndrome|Familial_hyperaldosteronism . . 0.8752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8704 303648 11 128787405 G T 313312 Benign Romano-Ward_syndrome|Familial_hyperaldosteronism . . 0.15595 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8705 303649 11 128787430 G T 325562 Benign Romano-Ward_syndrome|Familial_hyperaldosteronism . . 0.73542 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8706 303652 11 128787554 C T 326565 Benign Romano-Ward_syndrome|Familial_hyperaldosteronism . . 0.85423 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8707 303660 11 128787689 G A 326575 Benign Romano-Ward_syndrome|Familial_hyperaldosteronism . . 0.68231 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8708 303668 11 128787963 AC A 319444 Benign Romano-Ward_syndrome|Familial_hyperaldosteronism . . 0.73982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8709 776679 11 129801022 T C 701660 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8710 518237 11 130064647 G A 508861 Benign Ichthyosis,_congenital,_autosomal_recessive_11 0.77047 0.84327 0.83287 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8711 518238 11 130066335 C T 508862 Benign Ichthyosis,_congenital,_autosomal_recessive_11 0.56865 0.69045 0.63898 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8712 310533 12 862641 T G 318492 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.33986 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8713 261069 12 862989 T C 254719 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.9724 0.99239 0.97564 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8714 137927 12 863152 G A 141630 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.0802 0.16333 0.07448 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8715 670589 12 863517 G A 666857 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8716 670590 12 936468 C G 666860 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8717 681290 12 938910 T A 667225 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8718 261066 12 939302 A G 254728 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.68553 0.74509 0.69349 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8719 670303 12 966097 A G 667226 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8720 670304 12 966124 T C 666864 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8721 137922 12 968400 C A 141625 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.11368 0.14923 0.09345 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8722 137923 12 968489 T C 141626 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.11543 0.14876 0.09345 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8723 261067 12 987482 G A 254731 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.67953 . 0.67951 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8724 218533 12 987533 C CT 215458 Benign not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8725 538531 12 988558 C T 527667 Benign Pseudohypoaldosteronism_type_2C|Hereditary_sen... . . 0.52895 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8726 137926 12 994014 C T 141629 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.1118 0.15542 0.11582 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8727 261072 12 994487 G C 254767 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.98608 0.99634 0.98682 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8728 670309 12 996205 A T 666189 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8729 670310 12 999762 A G 666984 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8730 670311 12 1003978 T C 666998 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8731 261074 12 1017197 C T 254769 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.98616 0.99643 0.98702 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8732 306711 12 1019944 G A 333103 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.98722 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8733 306723 12 1020266 T C 333107 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.11921 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8734 307801 12 1901392 T TCTC 331332 Benign Cone_dystrophy_3 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8735 307803 12 1901434 C T 329967 Benign Cone_dystrophy_3 . . 0.374 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8736 307806 12 1901485 G T 331342 Benign Cone_dystrophy_3 . . 0.3746 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8737 307811 12 1901618 CG C 331346 Benign Cone_dystrophy_3 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8738 307819 12 1902164 C T 323961 Benign Cone_dystrophy_3 . . 0.3722 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8739 307828 12 1902766 T G 331357 Benign Cone_dystrophy_3 . . 0.38399 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8740 262820 12 1995403 T C 254464 Benign Cone_dystrophy_3|not_specified 0.91647 . 0.9371 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8741 683258 12 2162369 G A 665591 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8742 683259 12 2163032 G A 666235 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8743 695132 12 2224063 C G 685312 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8744 93412 12 2558186 G A 99319 Benign Brugada_syndrome|Timothy_syndrome|History_of_n... 0.1757 0.20737 0.12041 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8745 671977 12 2558475 G A 666491 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8746 683261 12 2558567 T C 665692 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8747 683274 12 2595011 A C 666364 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8748 671970 12 2602179 G A 665693 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8749 683275 12 2613329 A G 666496 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8750 671783 12 2613521 A G 665698 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8751 764556 12 2656887 T G 775881 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8752 695133 12 2659044 TG T 685328 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8753 764565 12 2659622 G A 776028 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8754 764686 12 2659942 C T 775962 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8755 764557 12 2660096 C G 775888 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8756 671798 12 2666348 A G 666499 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8757 683263 12 2666407 T A 666380 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8758 671799 12 2676683 C T 666393 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8759 683270 12 2677264 A G 665735 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8760 671800 12 2690702 G A 666510 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8761 695135 12 2691260 C G 685335 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8762 670939 12 2692186 T G 665737 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8763 671801 12 2706720 G C 665749 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8764 794112 12 2750621 C T 787803 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8765 764840 12 2751125 G A 775834 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8766 683271 12 2757371 A C 666773 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8767 671806 12 2757756 T C 666775 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8768 671807 12 2757769 T C 666531 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8769 671808 12 2757782 C T 665763 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8770 676054 12 2757885 C T 666413 Benign/Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8771 673265 12 2760508 G A 666423 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8772 670958 12 2760708 G A 666426 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8773 670940 12 2760970 G A 665766 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8774 695136 12 2764001 G A 685362 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8775 671809 12 2773855 G A 666431 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8776 670934 12 2774668 C A 665770 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8777 673266 12 2777768 A G 666436 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8778 669624 12 2778504 G GA 666783 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8779 671810 12 2783476 T C 666785 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8780 671811 12 2783972 T C 666786 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8781 93413 12 2788879 G A 99320 Benign Brugada_syndrome|Timothy_syndrome|History_of_n... 0.58112 0.69528 0.52636 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8782 136640 12 2791205 A G 140343 Benign not_specified 0.99981 0.9999 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8783 671813 12 2798151 G A 666796 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8784 308169 12 2800649 C T 330335 Benign Brugada_syndrome|Timothy_syndrome|not_provided . . 0.88339 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8785 308174 12 2801016 C CGCCGCCGGGAAGGG 330349 Benign Brugada_syndrome|Timothy_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8786 308236 12 2804638 A G 324323 Benign Brugada_syndrome|Timothy_syndrome . . 0.94828 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8787 308251 12 2805196 T A 330445 Benign Brugada_syndrome|Timothy_syndrome . . 0.77117 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8788 308267 12 2806335 A C 316806 Benign Brugada_syndrome|Timothy_syndrome . . 0.96685 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8789 678294 12 4383036 C T 656161 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8790 380772 12 4388084 C G 375127 Benign not_specified 0.32631 . 0.21985 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8791 308779 12 4478080 T A 324849 Benign Tumoral_calcinosis,_hyperphosphatemic,_familia... . . 0.20467 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8792 308803 12 4479549 G A 330952 Benign Tumoral_calcinosis,_hyperphosphatemic,_familia... 0.10534 0.12388 0.14736 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8793 138447 12 4768193 A T 142150 Benign not_specified|not_provided 0.27092 0.24629 0.22404 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8794 138448 12 4768354 A C 142151 Benign not_specified 0.63373 0.71857 0.70607 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8795 671789 12 4768511 A G 666700 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8796 682711 12 4768577 G A 666628 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8797 682712 12 4768619 A G 666955 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8798 682713 12 4771431 A G 666635 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8799 671790 12 4771456 G A 665961 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8800 138449 12 4771682 G A 142152 Benign not_specified 0.36898 0.42513 0.34685 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8801 682714 12 4778627 A G 666708 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8802 682725 12 4791673 A G 666965 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8803 682728 12 4794733 A G 666968 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8804 21130 12 5021348 G C 33982 Benign Episodic_ataxia|Myokymia|not_specified|not_pro... 0.50346 . 0.53335 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8805 129313 12 5021984 T A 134759 Benign Episodic_ataxia|Myokymia|Episodic_ataxia_type_... 0.7425 0.73852 0.82049 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8806 258594 12 5154462 T C 254607 Benign/Likely_benign Atrial_fibrillation,_familial,_7|Familial_atri... 0.9847 . 0.98103 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8807 309342 12 5155663 A T 333135 Likely_benign Familial_atrial_fibrillation . . 0.21905 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8808 440406 12 6058913 G A 433116 Benign not_specified 0.10526 0.07926 0.10004 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8809 440405 12 6058920 A G 433117 Benign not_specified 0.10595 0.07945 0.10104 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8810 256704 12 6060960 G A 254648 Benign not_specified 0.14017 0.13509 0.11681 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8811 256703 12 6061069 T G 254649 Benign not_specified 0.18622 0.19496 0.16234 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8812 256702 12 6061559 C T 254650 Benign/Likely_benign von_Willebrand_disorder|not_specified 0.0449 0.05934 0.04473 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8813 256696 12 6091000 A G 254656 Benign/Likely_benign von_Willebrand_disorder|not_specified 0.84392 0.86871 0.82508 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8814 256695 12 6091164 G A 254657 Benign/Likely_benign von_Willebrand_disorder|not_specified 0.24973 0.33541 0.30332 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8815 256693 12 6094845 G A 254659 Benign/Likely_benign von_Willebrand_disorder|not_specified 0.76711 . 0.70068 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8816 256688 12 6105387 G A 254663 Benign/Likely_benign von_Willebrand_disorder|not_specified 0.35607 0.45766 0.45607 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8817 256661 12 6145529 G A 254687 Benign not_specified 0.69722 0.7029 0.7532 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8818 256658 12 6153659 G T 254690 Benign not_specified 0.46393 . 0.53075 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8819 256657 12 6161963 G GAGA 254691 Benign/Likely_benign von_Willebrand_disorder|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8820 256654 12 6172202 T C 254694 Benign/Likely_benign von_Willebrand_disorder|not_specified 0.50861 . 0.51877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8821 619927 12 6234889 C T 611318 Benign not_provided . . 0.44369 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8822 37038 12 6440009 T C 45724 Benign/Likely_benign Multiple_sclerosis,_susceptibility_to,_5|not_s... 0.38759 0.36212 0.29972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8823 257326 12 6450945 T C 254705 Benign/Likely_benign not_specified|Familial_Periodic_Fever 0.40412 0.3755 0.30152 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8824 675609 12 6451590 A C 667205 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8825 165164 12 6457062 T C 175889 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.76286 . 0.74062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8826 165165 12 6464581 C T 175749 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.1763 0.08987 0.19229 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8827 402517 12 6560473 A G 390154 Benign not_specified 0.9917 0.99261 0.9974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8828 402518 12 6560573 G T 390068 Benign not_specified 0.40964 . 0.36002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8829 675808 12 6954624 G A 667211 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8830 226004 12 6954875 C T 227813 drug_response sildenafil_response_-_Efficacy|not_provided 0.44979 0.35977 0.49221 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8831 310372 12 6980075 G GA 326542 Uncertain_significance Triosephosphate_isomerase_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8832 310415 12 7342636 T A 318422 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.03654 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8833 310452 12 7363574 C G 334493 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.43211 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8834 261353 12 8757481 G A 254729 Benign Immunodeficiency_with_hyper_IgM_type_2|not_spe... 0.54935 0.59043 0.48423 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8835 261352 12 8759445 C T 254730 Benign Immunodeficiency_with_hyper_IgM_type_2|not_spe... 0.54015 0.53233 0.63259 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8836 369029 12 8765447 T C 353258 Benign Immunodeficiency_with_Hyper-IgM 0.99496 . 0.99541 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8837 381191 12 8808006 T C 375428 Benign not_specified 0.40474 0.41653 0.42931 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8838 674904 12 8808222 C T 667237 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8839 561550 12 8975605 A G 552696 Benign not_provided . . 0.35803 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8840 384687 12 8975901 C T 372586 Benign not_provided 0.04552 0.08918 0.13019 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8841 561804 12 8976764 A G 552698 Benign not_provided . . 0.61701 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8842 561805 12 8976780 T C 552699 Benign not_provided . . 0.36122 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8843 561806 12 8987550 T C 552702 Benign not_provided . . 0.90935 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8844 561551 12 8988403 A C 552706 Benign not_provided . . 0.94888 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8845 561807 12 8988542 C G 552707 Benign not_provided . . 0.94848 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8846 561539 12 8988777 A G 552709 Benign not_provided . . 0.84605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8847 561552 12 8989916 A G 552711 Benign not_provided . . 0.85344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8848 561533 12 8990813 A G 552713 Benign not_provided . . 0.85643 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8849 561553 12 8991246 C T 552714 Benign not_provided . . 0.82648 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8850 561534 12 8991970 G A 552716 Benign not_provided . . 0.82688 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8851 561535 12 8991998 C A 552717 Benign not_provided . . 0.93291 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8852 561809 12 8992122 C CT 552718 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8853 561810 12 8992130 TAGA T 552719 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8854 561520 12 8994212 T C 552720 Benign not_provided . . 0.93431 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8855 561521 12 8995523 C G 552722 Benign not_provided . . 0.43211 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8856 383777 12 9004512 G A 373491 Benign not_provided 0.80782 0.87003 0.86821 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8857 561554 12 9004667 G C 552737 Benign not_provided . . 0.51637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8858 561555 12 9007031 C G 552739 Benign not_provided . . 0.51378 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8859 561527 12 9008318 G C 552742 Benign not_provided . . 0.51298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8860 561568 12 9013329 G A 552747 Benign not_provided . . 0.11621 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8861 384669 12 9013755 C T 373500 Benign Otitis_media,_susceptibility_to|not_provided 0.30165 0.43211 0.43231 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8862 561569 12 9016665 G C 552752 Benign not_provided . . 0.10004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8863 384670 12 9020489 A G 375466 Benign not_provided 0.77746 0.85911 0.85264 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8864 384671 12 9020912 A G 373525 Benign not_provided 0.74648 0.73521 0.67772 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8865 561565 12 9021256 C T 552762 Benign not_provided 0.44466 0.41267 0.40455 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8866 561570 12 9021430 G C 552764 Benign not_provided . . 0.1893 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8867 561566 12 9021525 C A 552765 Benign not_provided . . 0.40435 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8868 211899 12 9083336 A G 208005 Benign not_specified . 0.73354 . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8869 769813 12 9317885 G A 702542 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8870 590287 12 10251445 C G 581228 risk_factor Aspergillosis,_susceptibility_to 0.88582 0.76792 0.67053 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8871 402543 12 10271055 T C 390101 Benign not_specified 0.85983 0.74149 0.64058 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8872 307658 12 12870695 T C 331119 Benign Multiple_endocrine_neoplasia|Multiple_endocrin... . . 0.66174 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8873 307718 12 13714729 T C 323803 Likely_benign Intellectual_Disability,_Dominant . . 0.89137 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8874 307723 12 13715308 A C 331211 Likely_benign Intellectual_Disability,_Dominant . . 0.27496 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8875 129204 12 13716638 G A 134650 Benign/Likely_benign History_of_neurodevelopmental_disorder|not_spe... 0.40151 . 0.2476 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8876 676042 12 13720422 A G 666226 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8877 681647 12 13723127 T C 666625 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8878 129200 12 13764774 G A 134646 Benign/Likely_benign History_of_neurodevelopmental_disorder|Mental_... 0.2801 0.26466 0.1901 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8879 137516 12 13828659 T C 141219 Benign not_specified 0.15493 0.15766 0.10383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8880 129205 12 14018777 G C 134651 Benign/Likely_benign History_of_neurodevelopmental_disorder|not_spe... 0.43103 . 0.44149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8881 402915 12 14781678 G GA 390540 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8882 402916 12 14794062 G A 390087 Benign not_specified 0.81962 0.94109 0.82348 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8883 17730 12 14993439 C T 32769 Affects Blood_group,_Dombrock_system . 0.34903 0.29273 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8884 307759 12 15034521 T A 331251 Benign Keutel_syndrome . . 0.32408 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8885 284369 12 15035081 T C 268606 Benign Keutel_syndrome|not_specified 0.43726 0.37996 0.38538 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8886 307773 12 15037187 T TA 331322 Benign Keutel_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8887 307776 12 15038788 C T 323908 Benign Keutel_syndrome 0.341 . 0.26218 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8888 307884 12 20966548 C T 316532 Benign Rotor_syndrome . . 0.69709 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8889 440287 12 20968665 GTTTA G 433930 Benign not_provided . 0.21989 0.18411 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8890 261184 12 21011480 T G 254467 Benign Rotor_syndrome|not_specified 0.72293 0.80446 0.70248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8891 261185 12 21013948 C T 254468 Benign Rotor_syndrome|not_specified 0.72224 0.80656 0.70228 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8892 261186 12 21015760 G A 254469 Benign Rotor_syndrome|not_specified 0.72282 0.80436 0.70248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8893 810734 12 21017875 T C 798983 Benign Gilbert's_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8894 307896 12 21028208 G C 316533 Benign/Likely_benign Rotor_syndrome|not_specified 0.11433 0.11316 0.06569 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8895 261183 12 21036411 A G 254470 Benign Rotor_syndrome|not_specified 0.72305 0.80468 0.70288 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8896 440286 12 21054369 G A 433929 Benign not_specified 0.71236 0.81821 0.67871 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8897 810735 12 21074122 C T 798984 Benign Gilbert's_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8898 225995 12 21283322 G A 227775 drug_response pravastatin_response_-_Efficacy . . 0.05471 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8899 259983 12 21329738 A G 254471 Conflicting_interpretations_of_pathogenicity Gilbert's_syndrome|Rotor_syndrome|not_specifie... 0.52629 0.47949 0.6224 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8900 37346 12 21331549 T C 40587 drug_response simvastatin_acid_response_-_Metabolism/PK|Gilb... 0.11495 0.12943 0.08766 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8901 259985 12 21331625 C T 254473 Benign Rotor_syndrome|not_specified 0.44895 0.38514 0.41554 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8902 375656 12 21382619 T C 362505 drug_response methotrexate_response_-_Toxicity/ADR . . 0.21925 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8903 307959 12 21391976 A C 331512 Likely_benign Rotor_syndrome 0.05845 0.04632 0.04433 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8904 307967 12 21392562 T G 324112 Benign Rotor_syndrome . . 0.44768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8905 307969 12 21392586 A G 331528 Benign Rotor_syndrome . . 0.44848 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8906 679695 12 21624309 A T 665596 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8907 679693 12 21626324 A C 666651 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8908 679691 12 21626330 C A 665601 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8909 679692 12 21627557 A C 665603 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8910 679689 12 21627745 A G 666405 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8911 679685 12 21628812 G A 666661 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8912 679683 12 21629987 T C 666243 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8913 679680 12 21644667 G A 666685 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8914 679678 12 21654407 G A 656146 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8915 307985 12 21689736 G A 316625 Benign Hypoglycemia_with_deficiency_of_glycogen_synth... . . 0.53155 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8916 261469 12 21692166 CA C 254475 Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8917 261466 12 21711111 G C 254478 Benign not_specified|not_provided 0.71752 0.76612 0.71566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8918 261464 12 21712545 A G 254480 Benign not_specified 0.74099 0.76571 0.74062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8919 199162 12 21712574 C T 196321 Benign Hypoglycemia_with_deficiency_of_glycogen_synth... 0.74269 . 0.74062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8920 261463 12 21713308 T A 254481 Benign Hypoglycemia_with_deficiency_of_glycogen_synth... 0.76519 0.78958 0.75459 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8921 261462 12 21713402 T C 254482 Benign Hypoglycemia_with_deficiency_of_glycogen_synth... 0.74273 0.76856 0.74062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8922 261473 12 21715989 C T 254484 Benign not_specified|not_provided 0.18238 0.20874 0.17652 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8923 308019 12 21791272 T C 316663 Benign Lactate_dehydrogenase_B_deficiency 0.93541 0.98053 0.93251 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8924 672441 12 21958399 G C 666416 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8925 673827 12 21970019 C T 666270 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8926 681194 12 21982281 A G 666716 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8927 681193 12 21994955 G C 665637 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8928 681192 12 21997121 G C 666314 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8929 261216 12 22005003 T G 254488 Benign not_specified|not_provided 0.35966 0.38829 0.33467 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8930 681190 12 22005771 A G 666744 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8931 677919 12 22014222 T C 666745 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8932 673006 12 22015768 G A 666437 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8933 308037 12 22016004 GA G 330167 Benign/Likely_benign Hypertrichotic_osteochondrodysplasia|Familial_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8934 681189 12 22016216 AAGTTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT A,AAATTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT 666443 Benign not_provided . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
8935 673826 12 22017157 G C 665667 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8936 45402 12 22017422 A G 54569 Benign/Likely_benign Hypertrichotic_osteochondrodysplasia|Familial_... 0.99808 0.99952 0.9982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8937 671057 12 22035873 C T 665675 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8938 673825 12 22041044 GGACAGAGGGGTT G 666336 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8939 261214 12 22047151 G T 254490 Benign not_specified 0.99808 0.99953 0.9978 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8940 681188 12 22061432 T C 666749 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8941 45386 12 22063115 A G 54553 Benign/Likely_benign Cardiomyopathy|Hypertrichotic_osteochondrodysp... 0.99646 0.99897 0.9972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8942 261213 12 22063737 G T 254491 Benign not_specified 0.98969 0.99692 0.99161 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8943 45384 12 22063749 T C 54551 Benign/Likely_benign Hypertrichotic_osteochondrodysplasia|Familial_... 0.98977 0.99693 0.99161 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8944 681187 12 22064188 T C 665679 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8945 672436 12 22066180 C T 665684 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8946 45419 12 22068849 G T 54586 Benign/Likely_benign Hypertrichotic_osteochondrodysplasia|Familial_... 0.58794 0.6138 0.64477 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8947 681185 12 22069114 G T 665689 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8948 681184 12 22078556 T C 666469 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8949 681183 12 22078571 T A 666472 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8950 261217 12 22078838 T G 254492 Benign not_specified 0.63894 0.64151 0.70168 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8951 681182 12 22079318 G A 666484 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8952 308059 12 25358650 A T 331607 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.54832 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8953 308062 12 25358662 CTT C 316688 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8954 308064 12 25358828 T G 324167 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.54832 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8955 308065 12 25358943 T C 330205 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.54852 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8956 308066 12 25358969 T G 316694 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.43331 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8957 308075 12 25359328 A T 316697 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.54812 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8958 308076 12 25359352 G A 324182 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.54852 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8959 308077 12 25359464 TA T 331627 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8960 308082 12 25359841 T C 316700 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.52556 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8961 308089 12 25360449 C CA 316706 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8962 308102 12 25361091 T C 330231 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.9974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8963 308118 12 25362217 A G 324217 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . 0.63591 0.54912 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8964 40467 12 25362552 A C 48937 Benign/Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrom... . . 0.52057 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8965 561815 12 25368084 T C 552690 Benign not_provided . . 0.54752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8966 46538 12 25368462 C T 55703 Benign Noonan_syndrome_3|Rasopathy|not_specified 0.99854 0.99954 0.9976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8967 402425 12 32481093 G C 390019 Benign not_specified 0.18861 0.23408 0.26458 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8968 802832 12 32552769 C G 791228 Benign Charcot-Marie-Tooth_disease,_type_4H . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8969 308287 12 32735236 C T 331861 Benign Charcot-Marie-Tooth_disease_type_4|not_specifi... 0.49892 . 0.46705 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8970 670478 12 32754946 T G 666803 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8971 670479 12 32755058 T A 666454 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8972 670509 12 32755400 T C 666808 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8973 680165 12 32763474 T G 666566 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8974 308297 12 32772620 C T 316842 Likely_benign Charcot-Marie-Tooth_disease_type_4 0.09811 0.0953 0.0651 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8975 668737 12 32778296 C T 666815 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8976 308299 12 32778581 T C 330499 Benign/Likely_benign Charcot-Marie-Tooth_disease_type_4|not_specifi... 0.13263 0.13177 0.14018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8977 680168 12 32778913 G A 666819 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8978 308313 12 32794615 C T 331882 Likely_benign Charcot-Marie-Tooth_disease_type_4 . . 0.06689 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8979 308322 12 32795190 C T 330532 Likely_benign Charcot-Marie-Tooth_disease_type_4 . . 0.06709 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8980 308324 12 32795295 A T 330549 Likely_benign Charcot-Marie-Tooth_disease_type_4 . . 0.06709 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8981 308327 12 32795421 A G 331894 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.74181 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8982 308336 12 32796393 ACTAT A 330561 Benign Charcot-Marie-Tooth_disease_type_4 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8983 308341 12 32796597 G A 330563 Likely_benign Charcot-Marie-Tooth_disease_type_4 . . 0.06789 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8984 308351 12 32797237 G T 331938 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.43371 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8985 308355 12 32797386 TA T 316862 Likely_benign Charcot-Marie-Tooth_disease_type_4 . . 0.06689 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8986 308361 12 32797905 A G 330594 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.49661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8987 308366 12 32798227 C CT 324449 Uncertain_significance Charcot-Marie-Tooth_disease_type_4 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8988 308372 12 32798458 A G 330604 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.99022 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8989 308377 12 32798665 G A 324459 Benign Charcot-Marie-Tooth_disease_type_4 . . 0.46765 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8990 678476 12 32854151 A G 666458 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8991 671551 12 32854602 G A 666462 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8992 678685 12 32863700 A G 666837 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8993 671780 12 32865915 C T 665793 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8994 676117 12 32890685 C T 665808 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
8995 671645 12 32890912 T A 666607 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8996 680551 12 32893715 G T 666478 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8997 680576 12 32895955 G A 665817 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8998 308420 12 32897647 C CA 332046 Uncertain_significance Lethal_Encephalopathy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
8999 680849 12 32900620 T C 665824 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9000 308468 12 32943795 C A 330718 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy . . 0.03574 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9001 308471 12 32944087 C G 332116 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy . . 0.03574 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9002 308481 12 32944414 G T 316934 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy . . 0.89916 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9003 45070 12 32949029 A AG 54237 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... 0.19029 0.2108 0.31829 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9004 672403 12 32949427 T C 666873 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9005 672402 12 32955154 G C 666881 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9006 672401 12 32955642 G A 665867 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9007 672209 12 32955647 C A 666513 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9008 672400 12 32955675 C G 665870 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9009 259441 12 32974245 C T 254502 Benign not_specified 0.76649 0.71268 0.59165 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9010 674301 12 32993822 A G 666893 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9011 669622 12 33049157 C T 666640 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9012 369015 12 33049781 G A 353244 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopathy . . 0.33247 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9013 683983 12 33049929 C T 666899 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9014 308537 12 39687754 T C 324579 Benign Congenital_fibrosis_of_the_extraocular_muscles . . 0.38199 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9015 308542 12 39687989 T C 330788 Benign Congenital_fibrosis_of_the_extraocular_muscles . . 0.38219 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9016 39192 12 40631791 T C 47798 Benign Parkinson_disease_8,_autosomal_dominant 0.52906 0.52626 0.45288 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9017 308613 12 40645257 C A 324683 Benign Parkinson_disease_8,_autosomal_dominant 0.31818 0.36221 0.31949 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9018 308617 12 40681142 C CT 330850 Benign Parkinson_disease_8,_autosomal_dominant . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9019 39197 12 40713834 C A 47803 Benign Parkinson_disease_8,_autosomal_dominant 0.6859 0.67809 0.68291 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9020 39201 12 40713901 T A 47807 Likely_benign Parkinson_disease_8,_autosomal_dominant 0.25774 0.29827 0.28594 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9021 39209 12 40716260 T C 47815 Benign Parkinson_disease_8,_autosomal_dominant 0.55344 0.57331 0.58526 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9022 39222 12 40742254 G A 47828 Likely_benign Parkinson_disease_8,_autosomal_dominant 0.25608 0.30013 0.27376 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9023 308647 12 40758652 T C 324716 Benign Parkinson_disease_8,_autosomal_dominant|not_pr... 0.61227 0.62398 0.55172 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9024 308656 12 40761931 A C 317030 Benign Parkinson_disease_8,_autosomal_dominant . . 0.55132 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9025 308657 12 40761951 C T 332384 Benign Parkinson_disease_8,_autosomal_dominant . . 0.55152 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9026 308662 12 40762303 G C 317036 Benign Parkinson_disease_8,_autosomal_dominant . . 0.55132 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9027 308668 12 40762546 T C 330896 Benign Parkinson_disease_8,_autosomal_dominant . . 0.55132 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9028 679919 12 41312365 A T 665885 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9029 679921 12 41318169 G T 666660 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9030 679922 12 41318620 T C 665889 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9031 679153 12 41323480 C T 665893 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9032 679156 12 41330531 T C 665894 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9033 679152 12 41331612 T C 665902 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9034 128791 12 41337435 C T 134240 Benign not_specified 0.62158 0.61925 0.57149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9035 679162 12 41386743 A T 665913 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9036 679164 12 41387110 C G 666564 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9037 681651 12 41414357 A C 666908 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9038 681652 12 41463680 C T 666911 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9039 679926 12 41463689 T C 666923 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9040 308683 12 42852328 C A 332405 Benign Progressive_myoclonus_epilepsy_with_ataxia . . 0.96965 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9041 308692 12 42853058 GT G 324780 Uncertain_significance Progressive_myoclonus_epilepsy_with_ataxia . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9042 308694 12 42853084 C A 324781 Benign Progressive_myoclonus_epilepsy_with_ataxia . 0.24671 0.30012 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9043 308700 12 42853520 A G 324798 Benign Progressive_myoclonus_epilepsy_with_ataxia . . 0.72105 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9044 96506 12 42854205 A G 102400 Benign Seizures|Progressive_myoclonus_epilepsy_with_a... 0.43526 0.43846 0.42931 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9045 130024 12 42854208 A G 135470 Benign Seizures|Progressive_myoclonus_epilepsy_with_a... 0.29986 0.34591 0.27057 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9046 668046 12 42858029 C G 665929 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9047 668045 12 42862305 G C 666587 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9048 674935 12 42862750 T G 666933 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9049 668602 12 42863636 A AC 666944 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9050 668600 12 42863801 G A 665932 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9051 668599 12 42866065 A G 665952 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9052 308741 12 44181141 A G 332517 Likely_benign IRAK4_deficiency . . 0.02416 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9053 308828 12 48236386 T A 317210 Likely_benign Vitamin_D-Dependent_Rickets . . 0.54333 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9054 308840 12 48236550 G C 332585 Benign Vitamin_D-Dependent_Rickets . . 0.97824 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9055 308841 12 48236623 G T 331058 Likely_benign Vitamin_D-Dependent_Rickets . . 0.5026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9056 308842 12 48236664 C T 332589 Uncertain_significance Vitamin_D-Dependent_Rickets . . 0.00539 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9057 308862 12 48238068 C A 331077 Likely_benign Vitamin_D-Dependent_Rickets . . 0.12879 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9058 308868 12 48238221 G T 332607 Likely_benign Vitamin_D-Dependent_Rickets . . 0.49421 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9059 308887 12 48272895 A G 331088 drug_response peginterferon_alfa-2b_and_ribavirin_response_-... 0.67315 0.63756 0.67153 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9060 308889 12 48293605 C G 317255 Likely_benign Vitamin_D-Dependent_Rickets . . 0.16514 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9061 308891 12 48293716 G T 331092 Likely_benign Vitamin_D-Dependent_Rickets . . 0.16613 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9062 675027 12 48368989 A C 666974 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9063 802842 12 48373718 A AC 791239 Benign Stickler_syndrome_type_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9064 674857 12 48374513 A G 666656 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9065 674856 12 48374826 T G 667018 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9066 674843 12 48375475 C G 666658 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9067 93787 12 48375568 A G 99689 Benign/Likely_benign Type_II_Collagenopathies|not_specified|Stickle... 0.45279 0.48963 0.48283 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9068 674842 12 48375965 C T 666662 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9069 258226 12 48375975 A G 254539 Benign not_specified|not_provided 0.42142 0.39002 0.47324 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9070 258225 12 48376291 G A 254540 Benign/Likely_benign Type_II_Collagenopathies|not_specified|Stickle... 0.38682 0.39583 0.42971 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9071 674840 12 48376503 C T 667026 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9072 674839 12 48376530 C A 666663 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9073 258219 12 48377970 A G 254547 Benign not_specified|not_provided 0.76596 0.75222 0.68311 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9074 674837 12 48379810 G A 666666 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9075 674836 12 48379856 T C 667048 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9076 585506 12 48379961 A C 577262 Benign not_provided . . 0.48403 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9077 585505 12 48379964 A G 577263 Benign not_provided . . 0.48383 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9078 585507 12 48380031 A G 577264 Benign not_provided . . 0.48602 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9079 258210 12 48380682 G A 254555 Benign/Likely_benign Type_II_Collagenopathies|not_specified|Stickle... 0.20767 0.196 0.20367 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9080 683344 12 48381756 G C 667055 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9081 677868 12 48383797 G T 666003 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9082 677867 12 48383814 G A 666779 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9083 674982 12 48386553 A G 666782 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9084 674981 12 48386577 G T 666668 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9085 677855 12 48387025 T A 666007 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9086 677854 12 48387052 A C 666015 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9087 677853 12 48388830 C T 666671 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9088 677852 12 48388856 A C 666677 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9089 675025 12 48388995 TC T 666679 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9090 258244 12 48389023 C T 254562 Benign/Likely_benign Type_II_Collagenopathies|not_specified|Stickle... 0.26765 0.29345 0.16074 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9091 258243 12 48389643 A C 254563 Benign/Likely_benign Type_II_Collagenopathies|not_specified|Stickle... 0.82085 0.74893 0.68271 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9092 683339 12 48390080 T C 666683 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9093 258241 12 48390435 A T 254565 Benign not_specified 0.02376 0.02482 0.01098 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9094 668711 12 48391055 G A 667058 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9095 668953 12 48391094 C T 666018 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9096 668947 12 48391127 C T 666687 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9097 198471 12 48391416 G T 195632 Benign/Likely_benign Type_II_Collagenopathies|not_specified|Stickle... 0.20145 . 0.21925 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9098 677845 12 48392433 A G 666689 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9099 671012 12 48393444 C T 666020 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9100 677851 12 48393526 G A 667068 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9101 93791 12 48398002 G C 99693 Benign not_specified 0.78425 0.77124 0.6859 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9102 93788 12 48398080 T A 99690 Benign/Likely_benign Type_II_Collagenopathies|not_specified|Stickle... 0.78915 0.77256 0.6853 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9103 308941 12 48398223 G A 317278 Benign/Likely_benign Type_II_Collagenopathies|Stickler_Syndrome,_Do... . . 0.72764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9104 674834 12 48398350 C A 667074 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9105 683490 12 48524804 A G 666021 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9106 255763 12 48527186 C T 254572 Benign Glycogen_storage_disease,_type_VII|not_specifi... 0.19722 0.14854 0.1879 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9107 669651 12 48527715 C T 666036 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9108 676171 12 48528419 T C 666037 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9109 683493 12 48531917 T A 666041 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9110 667847 12 48534288 T G 667100 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9111 255754 12 48537624 A G 254583 Benign not_specified|not_provided 0.81047 0.73522 0.64537 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9112 255758 12 48539482 T G 254587 Benign Glycogen_storage_disease,_type_VII|not_specifi... 0.29248 . 0.20427 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9113 402501 12 49308284 A G 390097 Benign not_specified 0.30747 0.36988 0.3099 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9114 88685 12 49312533 GTA G 94265 Likely_pathogenic Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9115 402502 12 49312593 A G 390144 Benign not_specified 0.30632 . 0.30771 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9116 402503 12 49314862 C A 390099 Benign not_specified 0.30532 0.36971 0.30831 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9117 402504 12 49314994 A G 390145 Benign not_specified 0.30617 0.36923 0.30811 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9118 504917 12 50348078 T C 497419 Benign not_specified 0.6933 0.75927 0.66713 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9119 309241 12 50349765 C T 317502 Benign Nephrogenic_diabetes_insipidus . . 0.35264 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9120 309255 12 50350953 T C 317523 Benign Nephrogenic_diabetes_insipidus . . 0.88878 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9121 309257 12 50351075 T C 333084 Benign Nephrogenic_diabetes_insipidus . . 0.48123 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9122 309259 12 50351148 A G 333088 Benign Nephrogenic_diabetes_insipidus . . 0.22764 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9123 309263 12 50351679 TTCTC T 331609 Benign Nephrogenic_diabetes_insipidus . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9124 309264 12 50351886 A G 331612 Benign Nephrogenic_diabetes_insipidus . . 0.88518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9125 309274 12 50352559 T C 317541 Benign Nephrogenic_diabetes_insipidus . . 0.23423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9126 309281 12 51380232 A G 331638 Benign Anemia,_hypochromic_microcytic,_with_iron_over... . 0.42536 0.4381 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9127 309290 12 51381077 C T 317582 Benign Anemia,_hypochromic_microcytic,_with_iron_over... . 0.91858 0.89677 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9128 309307 12 51382232 T C 331680 Benign Anemia,_hypochromic_microcytic,_with_iron_over... 0.89536 0.93421 0.89597 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9129 309323 12 51404467 C T 325455 Benign Anemia,_hypochromic_microcytic,_with_iron_over... 0.47086 0.45251 0.3119 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9130 309328 12 51420164 C A 333177 Benign Anemia,_hypochromic_microcytic,_with_iron_over... . 0.91806 0.89677 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9131 130253 12 52080965 C T 135700 Benign History_of_neurodevelopmental_disorder|not_spe... 0.80015 0.83669 0.78494 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9132 670686 12 52099153 C T 667114 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9133 669362 12 52163248 A G 666047 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9134 260352 12 52163789 G A 254609 Benign not_specified 0.7549 0.79147 0.70747 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9135 684270 12 52164027 G A 666831 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9136 670526 12 52174301 G T 666833 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9137 670540 12 52180118 G A 666750 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9138 670844 12 52182452 C T 666055 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9139 139073 12 52182545 A G 142776 Benign not_specified|Early_Infantile_Epileptic_Enceph... 0.06652 0.14 0.16014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9140 684272 12 52183485 C T 666841 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9141 130247 12 52184271 T C 135694 Benign History_of_neurodevelopmental_disorder|not_spe... 0.6256 0.65001 0.50379 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9142 670845 12 52184342 A G 667128 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9143 668851 12 52184540 T C 666057 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9144 668853 12 52184585 G A 666059 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9145 130251 12 52200742 C A 135698 Benign History_of_neurodevelopmental_disorder|not_spe... 0.60655 . 0.48902 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9146 309381 12 52202024 T C 331755 Benign Early_Infantile_Epileptic_Encephalopathy,_Auto... . . 0.16314 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9147 309407 12 52204246 T C 331784 Benign Early_Infantile_Epileptic_Encephalopathy,_Auto... . 0.75365 0.83846 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9148 810906 12 52306027 C G 799691 Benign Hereditary_hemorrhagic_telangiectasia_type_2 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9149 136293 12 52307145 C T 139996 Benign Hereditary_hemorrhagic_telangiectasia_type_2|H... 0.47286 0.42633 0.43111 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9150 254710 12 52307308 A G 254610 Benign Hereditary_hemorrhagic_telangiectasia_type_2|n... 0.47818 0.45775 0.4367 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9151 439376 12 52307963 TCAGAATTGGAATTCTGCTGGG T 433105 Benign Hereditary_hemorrhagic_telangiectasia_type_2|n... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9152 254709 12 52312944 T C 254616 Benign/Likely_benign Hereditary_hemorrhagic_telangiectasia_type_2|n... 0.32493 0.28429 0.34345 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9153 439373 12 52312964 A G 433114 Benign Hereditary_hemorrhagic_telangiectasia_type_2|n... . 0.30761 0.34325 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9154 810907 12 52314138 A G 799705 Benign Hereditary_hemorrhagic_telangiectasia_type_2 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9155 678439 12 52314295 T G 666850 Benign Hereditary_hemorrhagic_telangiectasia_type_2|n... . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9156 811605 12 52314327 C T 799708 Benign Hereditary_hemorrhagic_telangiectasia_type_2 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9157 810856 12 52314388 T G 799709 Benign Hereditary_hemorrhagic_telangiectasia_type_2 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9158 309454 12 52315237 T C 333309 Benign Hereditary_hemorrhagic_telangiectasia_type_1 . . 0.34245 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9159 309467 12 52315923 T C 333318 Benign Hereditary_hemorrhagic_telangiectasia_type_1 . . 0.69968 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9160 309477 12 52316603 T C 333333 Likely_benign Hereditary_hemorrhagic_telangiectasia_type_1 . . 0.17672 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9161 309483 12 52317057 C G 317733 Likely_benign Hereditary_hemorrhagic_telangiectasia_type_1 . . 0.13099 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9162 309484 12 52317075 G A 331852 Likely_benign Hereditary_hemorrhagic_telangiectasia_type_1 . . 0.14257 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9163 66545 12 52682141 G A 77442 not_provided not_provided 0.22605 . 0.1873 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9164 309489 12 52708241 G A 331858 Benign Beaded_hair . . 0.71086 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9165 309494 12 52708420 G A 333362 Benign Beaded_hair 0.74907 0.69984 0.73622 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9166 309499 12 52708565 A G 325618 Benign Beaded_hair 0.72671 . 0.71146 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9167 309521 12 52711450 T C 333400 Benign Beaded_hair 0.73105 0.66626 0.71785 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9168 66546 12 52712975 G A 77443 Benign Beaded_hair|not_provided 0.31931 0.32313 0.36262 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9169 1891 12 52827608 C T 16930 risk_factor Pseudofolliculitis_barbae,_susceptibility_to|n... . 0.12308 0.14317 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9170 768547 12 52863621 T G 702366 Likely_benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9171 309550 12 52908473 G A 331909 Benign Epidermolysis_bullosa_simplex . . 0.12919 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9172 66224 12 52908872 C T 77121 Benign Epidermolysis_bullosa_simplex|not_specified|no... 0.15123 0.1344 0.12879 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9173 66223 12 52908917 T C 77120 Benign Epidermolysis_bullosa_simplex|not_specified|no... 0.17307 0.1394 0.15176 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9174 66198 12 52911401 T G 77095 Benign Epidermolysis_bullosa_simplex|not_specified|no... 0.15162 0.13 0.12859 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9175 66283 12 52912768 C T 77180 Benign Epidermolysis_bullosa_simplex|not_specified|no... 0.15193 . 0.1276 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9176 66282 12 52912870 A G 77179 Benign Epidermolysis_bullosa_simplex|not_specified|no... 0.15174 0.13029 0.128 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9177 256044 12 52912959 G A 254617 Benign Epidermolysis_bullosa_simplex|not_specified 0.16339 . 0.13818 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9178 256043 12 52913730 G A 254618 Benign Epidermolysis_bullosa_simplex|not_specified 0.07835 0.07218 0.06849 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9179 309581 12 52914211 T C 333460 Benign Epidermolysis_bullosa_simplex . . 0.10523 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9180 309616 12 53044267 C T 331979 Benign Ichthyosis_bullosa_of_Siemens 0.11164 . 0.07208 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9181 309626 12 53045777 G A 317855 Benign Ichthyosis_bullosa_of_Siemens 0.35845 . 0.27816 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9182 309637 12 53069014 T C 333512 Benign Nonepidermolytic_palmoplantar_keratoderma|Bull... 0.22336 0.30507 0.27556 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9183 66623 12 53070145 G A 77520 Benign Nonepidermolytic_palmoplantar_keratoderma|Bull... 0.47009 0.44344 0.42552 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9184 66667 12 53071382 A C 77564 not_provided not_provided 0.38641 . 0.28854 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9185 66666 12 53071560 A G 77563 not_provided not_provided 0.47009 0.44403 0.42552 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9186 66516 12 53200584 T C 77413 Benign White_sponge_nevus_of_cannon|not_provided . . 0.83706 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9187 309671 12 53201413 T C 325795 Benign White_sponge_nevus_of_cannon 0.82162 . 0.83786 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9188 309687 12 53204614 C T 333549 Benign White_sponge_nevus_of_cannon 0.83568 0.83173 0.82348 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9189 768551 12 53207583 C CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG 702383 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9190 66535 12 53294381 T C 77432 not_provided not_provided 0.48585 0.55301 0.56749 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9191 128252 12 53703021 G A 133701 Benign Glucocorticoid_deficiency_with_achalasia|not_s... 0.90627 0.97454 0.91534 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9192 309747 12 53720494 G A 325888 Uncertain_significance Osteogenesis_Imperfecta,_Recessive . . 0.00339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9193 309751 12 53720718 C CTTGAT 325889 Benign Osteogenesis_Imperfecta,_Recessive . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9194 285779 12 53722098 A G 270016 Benign Osteogenesis_imperfecta_type_12|not_specified|... 0.95229 0.98664 0.96126 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9195 285778 12 53722128 G A 270015 Benign Osteogenesis_imperfecta_type_12|not_specified|... 0.89941 0.95821 0.89557 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9196 667626 12 53723368 G A 666759 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9197 129297 12 56078872 G A 134743 Conflicting_interpretations_of_pathogenicity not_specified|Congenital_Muscular_Dystrophy,_I... 0.00485 0.00466 0.0024 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9198 94047 12 56092668 C T 99949 Conflicting_interpretations_of_pathogenicity Muscular_dystrophy,_congenital,_due_to_integri... 0.03852 . 0.01558 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9199 94046 12 56092682 C T 99948 Benign/Likely_benign not_specified|Congenital_Muscular_Dystrophy,_I... 0.05943 . 0.03494 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9200 258857 12 56115585 C T 254633 Benign/Likely_benign Pigmentary_retinal_dystrophy|not_specified 0.15739 0.19522 0.15276 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9201 130383 12 56398454 G C 135830 Benign Sulfite_oxidase_deficiency|not_specified 0.73581 . 0.7522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9202 309857 12 56435929 C G 318056 Benign Diamond-Blackfan_anemia|not_specified 0.46494 . 0.55591 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9203 309863 12 56843825 C CA 325984 Benign Cataract . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9204 309866 12 56843893 G T 325987 Benign Cataract . . 0.32209 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9205 309871 12 56844349 C T 318063 Benign Cataract . . 0.26917 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9206 309875 12 56844559 A G 325992 Benign Cataract . . 0.85304 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9207 309883 12 56844970 A C 333746 Benign Cataract . . 0.97224 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9208 260169 12 56848079 C T 254635 Benign/Likely_benign Cataract|Cataract_15,_multiple_types|not_speci... 0.01899 0.0253 0.02196 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9209 768555 12 57080664 CAT C 702431 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9210 226408 12 57441501 C A 228212 Likely_benign Deafness,_autosomal_dominant_48|Nonsyndromic_H... 0.00154 0.00287 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9211 774328 12 57573272 C T 702442 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9212 1189 12 57870155 A C 16228 Uncertain_significance Coronary_artery_spasm_3,_susceptibility_to 0.48939 . 0.37021 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9213 682853 12 57968738 G A 666097 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9214 682856 12 57975570 A G 666891 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9215 682858 12 57976168 G A 666798 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9216 309975 12 58142004 TA T 332311 Uncertain_significance Cutaneous_Malignant_Melanoma,_Dominant . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9217 678634 12 58186595 A G 666914 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9218 198206 12 64202890 C G 195367 Benign not_specified . 0.13708 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9219 403522 12 64875787 T A 390062 Benign Glaucoma_1,_open_angle,_p|not_specified|not_pr... 0.43972 0.48142 0.35324 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9220 310175 12 65108160 G C 332553 Benign Sanfilippo_syndrome . . 0.60643 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9221 310184 12 65109168 C T 334206 Benign Sanfilippo_syndrome . . 0.59385 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9222 310198 12 65110141 G A 332602 Benign Sanfilippo_syndrome . . 0.71566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9223 94029 12 65146532 C T 99931 Benign Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS... 0.69322 . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9224 310219 12 65563712 C T 326356 Benign/Likely_benign Dermatofibrosis_lenticularis_disseminata|not_s... . 0.20349 0.08327 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9225 310222 12 65563754 C T 332656 Likely_benign Dermatofibrosis_lenticularis_disseminata 0.00174 0.07426 0.04812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9226 310255 12 65641261 G A 332686 Likely_benign Dermatofibrosis_lenticularis_disseminata . . 0.04792 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9227 310277 12 66741537 AT A 326419 Benign Fraser_syndrome_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9228 310290 12 66742183 A G 332712 Benign Fraser_syndrome_1 . . 0.50379 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9229 261411 12 66786073 A G 254710 Benign Fraser_syndrome_1|not_specified 0.97822 . 0.97464 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9230 261410 12 66786091 G C 254711 Benign Fraser_syndrome_1|not_specified 0.88958 0.94938 0.84365 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9231 261409 12 66814487 C A 254712 Benign Fraser_syndrome_1|not_specified 0.52142 0.56156 0.42232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9232 261413 12 66909389 C T 254713 Benign Fraser_syndrome_1|not_specified 0.6852 0.65231 0.71705 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9233 695297 12 69202326 C T 685383 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9234 310335 12 69747177 C T 332755 Benign Familial_visceral_amyloidosis,_Ostertag_type . . 0.91993 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9235 310354 12 69747834 C T 318410 Benign Familial_visceral_amyloidosis,_Ostertag_type . . 0.46865 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9236 310386 12 72372862 A G 326588 Likely_benign Tryptophan_5-monooxygenase_deficiency 0.58189 0.56466 0.54173 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9237 310388 12 72416235 A T 332804 Likely_benign Tryptophan_5-monooxygenase_deficiency 0.5662 0.57319 0.48722 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9238 35752 12 76741341 C T 44416 Benign/Likely_benign Bardet-Biedl_syndrome_1|not_specified|not_prov... 0.00792 0.00837 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9239 669384 12 80613584 T C 667213 Likely_benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9240 226934 12 80672064 A G 230375 Benign not_specified . 0.69854 0.68331 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9241 501890 12 80707236 T A 493314 Benign not_specified 0.19337 0.21747 0.18331 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9242 226944 12 80712420 G A 230391 Benign not_specified 0.97287 0.9618 0.94848 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9243 226949 12 80730561 CT C 230398 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9244 226952 12 80735771 T C 230404 Benign not_specified 0.52952 0.61508 0.49481 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9245 226956 12 80747209 C G 230408 Benign not_specified 0.18954 0.22331 0.17332 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9246 226957 12 80747242 A G 230409 Benign not_specified 0.84538 0.85312 0.83407 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9247 226962 12 80750659 G A 230414 Benign not_specified 0.19322 0.18289 0.17153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9248 226966 12 80752660 A G 230419 Benign not_specified 0.93584 0.94001 0.96446 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9249 226968 12 80761411 G T 230422 Benign not_specified 0.18908 . 0.16993 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9250 226969 12 80761430 G A 230423 Benign not_specified 0.71799 0.78683 0.67812 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9251 226970 12 80761465 G A 230424 Benign not_specified 0.94124 0.94539 0.96865 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9252 226972 12 80765800 A G 230426 Benign not_specified 0.49654 0.58932 0.48403 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9253 226976 12 80771813 G A 230431 Benign not_specified 0.72274 0.78742 0.68311 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9254 671633 12 80862469 A T 666135 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9255 682569 12 80889829 T A 656185 Benign Deafness,_autosomal_recessive_84|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9256 682570 12 80890325 T TG 666138 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9257 805262 12 80998917 T C 793449 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9258 310511 12 81102921 T C 334598 Benign Centronuclear_Myopathy,_Dominant . . 0.45847 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9259 310516 12 81103144 A G 326716 Benign Centronuclear_Myopathy,_Dominant . . 0.45847 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9260 681349 12 88448328 T A 667239 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9261 678616 12 88449096 A G 666884 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9262 166828 12 88454594 T TA 177569 Benign Joubert_syndrome|Leber_congenital_amaurosis|Me... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9263 126261 12 88473049 C T 131793 Benign not_specified 0.77126 0.88413 0.76458 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9264 668069 12 88478082 C T 666942 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9265 261845 12 88478316 TA T 254744 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9266 668067 12 88480623 G A 666887 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9267 96170 12 88483272 TA T 102064 Benign Joubert_syndrome|Leber_congenital_amaurosis|Me... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9268 668886 12 88494718 C T 667251 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9269 668066 12 88495290 G C 666174 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9270 126253 12 88496838 C G 131785 Benign not_specified 0.77267 . 0.76458 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9271 126249 12 88505078 T C 131781 Benign not_specified|not_provided 0.77127 . 0.76458 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9272 678615 12 88519401 A G 666952 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9273 680377 12 88522452 T C 667264 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9274 166839 12 88522823 A AC 177574 Benign Joubert_syndrome|Leber_congenital_amaurosis|Me... 0.87054 0.92839 0.8736 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9275 12811 12 89328335 T C 27850 Affects Skin/hair/eye_pigmentation,_variation_in,_7 . . 0.03175 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9276 802882 12 89745477 C A 791287 Benign Hypogonadotropic_hypogonadism_19_with_or_witho... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9277 677224 12 89853408 G A 666195 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9278 768570 12 91372042 GA G 778133 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9279 682690 12 95387756 C T 667009 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9280 310677 12 96366698 G A 327068 Likely_benign Histidinemia . . 0.35244 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9281 310679 12 96366769 T G 327069 Benign Histidinemia . . 0.45347 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9282 310695 12 96367601 T TAAAA 333174 Uncertain_significance Histidinemia . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9283 310701 12 96367900 G T 333182 Likely_benign Histidinemia . . 0.17712 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9284 310709 12 96374563 T C 334906 Benign Histidinemia 0.81616 0.83938 0.88718 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9285 310710 12 96374614 C T 318725 Benign Histidinemia 0.84284 0.84683 0.91114 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9286 310719 12 96387621 A G 333194 Benign Histidinemia 0.64131 0.56479 0.57967 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9287 684070 12 98921343 C T 666200 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9288 672959 12 98921533 G T 667012 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9289 672960 12 98921574 G T 667016 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9290 672961 12 98925255 T C 667022 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9291 671210 12 98925650 G T 667284 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9292 310785 12 98928646 A G 334955 Likely_benign Dilated_Cardiomyopathy,_Dominant . . 0.13359 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9293 678043 12 98994154 G A 667033 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9294 306637 12 100813976 A C 322498 Benign Nonsyndromic_Hearing_Loss,_Dominant 0.4597 0.4875 0.377 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9295 368977 12 100815850 T A 353206 Likely_benign Nonsyndromic_Hearing_Loss,_Dominant . . 0.31729 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9296 129644 12 102064118 T C 135090 Benign Distal_arthrogryposis|not_specified 0.94995 0.95421 0.96446 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9297 306773 12 102139747 T G 330054 Likely_benign I_cell_disease|Mucolipidosis,_Type_III_Alpha/Beta . . 0.07827 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9298 671998 12 102150878 G C 666005 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9299 96121 12 102154900 A G 102015 Benign I_cell_disease|not_specified|Mucolipidosis,_Ty... 0.59672 0.60146 0.6905 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9300 96119 12 102158763 T C 102013 Benign I_cell_disease|not_specified|Mucolipidosis,_Ty... 0.56251 0.58851 0.65136 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9301 671996 12 102162104 C T 666428 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9302 671995 12 102165083 A G 666183 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9303 671994 12 102173654 T C 666192 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9304 671993 12 102180228 C T 666430 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9305 671992 12 102182181 G A 666199 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9306 684061 12 102184071 C T 666013 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9307 306840 12 102790780 A T 328922 Benign Insulin-like_growth_factor_I_deficiency . . 0.61901 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9308 306880 12 102793569 C T 330185 Benign Insulin-like_growth_factor_I_deficiency . . 0.42692 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9309 306886 12 102793909 C CT 322907 Uncertain_significance Insulin-like_growth_factor_I_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9310 306892 12 102794515 G A 315820 Benign Insulin-like_growth_factor_I_deficiency . . 0.63858 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9311 306911 12 103232766 C T 330196 Benign Phenylketonuria . . 0.29253 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9312 102592 12 103233031 G A 108328 Benign not_specified|not_provided 0.01845 0.01625 0.01058 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9313 167413 12 103237468 G C 177903 Benign not_specified 0.82716 . 0.84026 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9314 92755 12 103240630 C A 98662 Benign Phenylketonuria|not_specified|not_provided 0.3666 0.35173 0.26957 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9315 167414 12 103248924 C T 177904 Benign not_specified 0.65355 . 0.54653 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9316 102712 12 103249164 C T 108448 not_provided not_provided . . 0.23463 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9317 102673 12 103271193 G A 108409 Benign not_specified|not_provided 0.38282 0.37252 0.29433 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9318 92736 12 103306550 A G 98643 Benign Phenylketonuria|not_specified|not_provided 0.20691 0.19427 0.21685 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9319 585207 12 103310787 G A 576256 Conflicting_interpretations_of_pathogenicity Phenylketonuria 0.37714 . 0.36362 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9320 162758 12 103352649 C G 175385 Benign not_specified 0.10393 0.05252 0.07129 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9321 306923 12 106751563 C T 315852 Uncertain_significance Pol_III-related_leukodystrophy . . 0.00679 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9322 130001 12 106838340 T C 135447 Benign Pol_III-related_leukodystrophy|not_specified 0.19099 . 0.31789 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9323 130003 12 106903321 T C 135449 Benign Pol_III-related_leukodystrophy|not_specified 0.21152 0.32414 0.32488 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9324 306955 12 106903674 A G 330244 Benign Pol_III-related_leukodystrophy . . 0.32488 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9325 559220 12 108956417 TT GG 549981 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9326 559222 12 108956433 C T 549983 Benign not_provided 0.62541 . 0.50759 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9327 214554 12 108956526 A AG 211576 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9328 684116 12 108958439 T C 666438 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9329 681978 12 108962398 C G 666439 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9330 261417 12 110221631 G C 254400 Benign not_specified|not_provided 0.47609 . 0.5619 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9331 667567 12 110224922 A C 666224 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9332 667566 12 110225923 C G 665364 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9333 667565 12 110226796 A G 666228 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9334 261420 12 110240838 T G 254405 Benign Spondylometaphyseal_dysplasia|Metatrophic_dysp... 0.58081 . 0.75439 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9335 670248 12 110270953 A G 666234 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9336 670247 12 110271351 A G 665388 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9337 670706 12 111052465 T A 666236 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9338 670705 12 111083084 G T 665393 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9339 31774 12 111350999 G A 40434 not_provided not_provided . . 0.14996 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9340 31772 12 111351029 TC T 40432 Benign Familial_hypertrophic_cardiomyopathy_10|not_sp... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9341 522365 12 111894072 C T 512973 Likely_benign Spinocerebellar_ataxia_2 0.19999 0.21574 0.23143 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9342 128508 12 112036929 G A 133957 Benign/Likely_benign Spinocerebellar_ataxia_2|not_specified . 0.71861 0.44429 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9343 128507 12 112037000 G C 133956 Benign/Likely_benign Spinocerebellar_ataxia_2|not_specified . 0.875 0.44429 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9344 307220 12 112856643 G A 316040 Benign/Likely_benign Noonan_syndrome|Noonan_syndrome_with_multiple_... . . 0.14317 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9345 561607 12 112890776 A G 552671 Benign not_provided . . 0.3734 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9346 40569 12 112939853 C T 49039 Benign Noonan_syndrome . . 0.51178 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9347 307230 12 112944240 CT C 329407 Uncertain_significance Noonan_syndrome|Noonan_syndrome_with_multiple_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9348 13985 12 113348870 G A 29024 Uncertain_significance Diabetes_mellitus,_type_1,_susceptibility_to . 0.56278 0.47384 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9349 307275 12 114792236 T C 316071 Benign Holt-Oram_syndrome . . 0.80831 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9350 307300 12 114793240 C T 323333 Benign Holt-Oram_syndrome . 0.68373 0.57228 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9351 307318 12 114846061 A G 329565 Likely_benign Holt-Oram_syndrome . . 0.0002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9352 307336 12 115108907 T C 323367 Benign Ulnar-mammary_syndrome . . 0.49581 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9353 307384 12 115121203 A G 316155 Benign Ulnar-mammary_syndrome . . 0.15915 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9354 307399 12 115121595 TA T 330802 Benign Ulnar-mammary_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9355 676114 12 120876065 A C 665408 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9356 669703 12 120876476 T A 665417 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9357 136259 12 121174899 T C 139962 Benign Deficiency_of_butyryl-CoA_dehydrogenase|not_sp... 0.50677 0.5706 0.59066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9358 136260 12 121176679 C T 139963 Benign Deficiency_of_butyryl-CoA_dehydrogenase|not_sp... 0.59196 0.54526 0.67312 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9359 307453 12 121177778 A G 316184 Benign Deficiency_of_butyryl-CoA_dehydrogenase . . 0.27436 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9360 129234 12 121416622 C G 134680 Benign Maturity_onset_diabetes_mellitus_in_young|not_... 0.41748 0.47217 0.42851 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9361 14937 12 121416650 A C 29976 Benign SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|Matur... . 0.35329 0.29852 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9362 676859 12 121416988 A G 666539 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9363 676864 12 121426478 C T 665420 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9364 673535 12 121426594 G A 666082 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9365 676874 12 121431225 G A 666269 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9366 673536 12 121431300 C T 666085 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9367 676860 12 121432302 T G 666276 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9368 133355 12 121434630 C CTCATTCAT 137094 Benign not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9369 680606 12 121434833 G A 666096 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9370 129229 12 121435342 C T 134675 Benign Maturity_onset_diabetes_mellitus_in_young|not_... 0.24639 0.33678 0.31669 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9371 129230 12 121435427 G A 134676 Benign Maturity_onset_diabetes_mellitus_in_young|not_... 0.24735 0.34651 0.31769 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9372 129231 12 121435475 G A 134677 Benign Maturity_onset_diabetes_mellitus_in_young|not_... 0.29007 0.43472 0.35963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9373 676877 12 121435587 G T 666282 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9374 135505 12 121437221 T C 139244 not_provided not_specified 0.74389 0.81454 0.77696 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9375 36810 12 121437382 A G 45471 Benign Maturity-onset_diabetes_of_the_young,_type_3|n... . 0.99585 0.98522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9376 673537 12 121438844 T C 666285 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9377 307464 12 121439192 G T 329694 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.35982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9378 307468 12 121439433 G A 323496 Benign Maturity_onset_diabetes_mellitus_in_young . . 0.36002 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9379 802899 12 122295335 T C 791201 Benign Hawkinsinuria . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9380 368982 12 122296784 C T 353211 Benign Hypertyrosinemia|Hawkinsinuria 0.31669 . 0.33606 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9381 403606 12 122372183 G A 390112 Benign not_specified 0.03379 0.04235 0.03435 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9382 403607 12 122386948 G A 390117 Benign not_specified 0.03445 0.04261 0.03614 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9383 770415 12 123186880 C T 702187 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9384 671535 12 123718301 C T 666286 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9385 307502 12 123741776 T C 323565 Benign Combined_oxidative_phosphorylation_deficiency . . 0.65136 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9386 307507 12 123742061 G A 316228 Benign Combined_oxidative_phosphorylation_deficiency . . 0.55731 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9387 307508 12 123742093 T G 316231 Benign Combined_oxidative_phosphorylation_deficiency . . 0.65056 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9388 675007 12 124156487 C T 666542 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9389 670707 12 124156897 A G 666288 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9390 675008 12 124158080 A G 666100 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9391 675009 12 124158450 T C 666290 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9392 675010 12 124158455 T C 665445 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9393 672228 12 124158502 G A 665448 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9394 672250 12 124163512 C T 665449 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9395 670708 12 124171151 C T 665450 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9396 670709 12 124171176 A G 666101 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9397 675011 12 124171323 T C 665453 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9398 675012 12 124171658 C T 666292 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9399 672251 12 124171826 T C 666293 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9400 671911 12 124172307 C T 666296 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9401 671912 12 124172342 T C 665455 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9402 126290 12 124172555 A T 131822 Benign not_specified|not_provided 0.44679 0.35666 0.33167 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9403 126294 12 124172731 G A 131826 Benign/Likely_benign Joubert_syndrome|Meckel-Gruber_syndrome|Meckel... 0.45048 0.35772 0.33606 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9404 126293 12 124172746 T C 131825 Benign not_specified|not_provided 0.53552 0.42686 0.44549 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9405 671913 12 124173005 T G 666302 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9406 672252 12 124177016 C A 666551 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9407 126282 12 124177289 T C 131814 Benign Meckel_syndrome_type_8|not_specified 0.53629 0.42813 0.44549 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9408 671926 12 124177538 C T 666306 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9409 126283 12 124179417 T C 131815 Benign Joubert_syndrome|Meckel-Gruber_syndrome|Meckel... 0.57227 0.43874 0.48223 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9410 675016 12 124179620 G A 666310 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9411 126284 12 124179739 A G 131816 Benign not_specified|not_provided 0.39022 0.32599 0.27217 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9412 672253 12 124180011 T C 666107 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9413 126285 12 124181049 C T 131817 Benign/Likely_benign Joubert_syndrome|Meckel-Gruber_syndrome|Meckel... 0.38959 0.32552 0.27236 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9414 675018 12 124181820 A G 666313 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9415 672255 12 124184065 G A 666115 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9416 672256 12 124184482 G C 666562 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9417 671927 12 124184639 T G 666321 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9418 307564 12 124192415 G A 316270 Benign/Likely_benign Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_... . . 0.21685 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9419 307567 12 124192587 T TCTCA 323625 Benign Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9420 307569 12 124192728 C T 331039 Benign/Likely_benign Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_... . . 0.27217 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9421 676231 12 124196735 G C 666144 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9422 307573 12 124196891 C G 316275 Benign/Likely_benign Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_... . . 0.27217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9423 95515 12 124197099 C T 101414 Benign/Likely_benign Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_... 0.3826 0.48251 0.27217 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9424 95523 12 124209332 T C 101422 Benign Cutis_laxa,_recessive|not_specified 0.64663 0.67924 0.751 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9425 95524 12 124209352 C T 101423 Benign Cutis_laxa,_recessive|not_specified 0.63986 0.67563 0.7498 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9426 95525 12 124210782 T C 101424 Benign Cutis_laxa,_recessive|not_specified 0.63986 0.67559 0.7498 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9427 683167 12 124219791 C T 665490 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9428 260260 12 124220055 T C 254452 Benign not_specified 0.57151 . 0.67991 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9429 95520 12 124229429 T C 101419 Benign Cutis_laxa,_recessive|not_specified 0.69537 0.6934 0.79952 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9430 683169 12 124236497 C T 665492 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9431 95521 12 124241506 C T 101420 Benign/Likely_benign ALG9_congenital_disorder_of_glycosylation|Cuti... 0.02583 0.02835 0.01478 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9432 307610 12 124243707 T C 331090 Benign Cutis_laxa,_recessive . . 0.61761 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9433 307618 12 124244272 C G 316294 Benign Cutis_laxa,_recessive . . 0.79153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9434 307642 12 124246004 G A 316304 Benign Cutis_laxa,_recessive . . 0.60663 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9435 402611 12 124265687 T C 390121 Benign not_specified 0.60634 0.66321 0.71326 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9436 402612 12 124267638 A G 389988 Benign not_specified 0.92811 0.91334 0.96306 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9437 402613 12 124267703 T C 390038 Benign not_specified 0.66677 0.67025 0.80132 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9438 781702 12 124272382 T C 713405 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9439 402614 12 124274474 A G 390123 Benign not_specified 0.73059 0.72937 0.83786 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9440 402615 12 124325977 T G 390127 Benign not_specified 0.91721 . 0.78614 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9441 402621 12 124387574 G A 390129 Benign not_specified 0.3006 0.30553 0.33566 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9442 402622 12 124387586 A G 389996 Benign not_specified 0.32229 0.30088 0.35803 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9443 402624 12 124399550 T C 390002 Benign not_specified 0.23407 0.17267 0.20847 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9444 402625 12 124417889 C T 390133 Benign not_specified 0.30743 0.37411 0.26058 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9445 253091 12 125284671 G A 247502 Pathogenic High_density_lipoprotein_cholesterol_level_qua... 0.00085 0.00065 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9446 768597 12 125396488 T C 702205 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9447 769836 12 126137060 C T 702216 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9448 307697 12 132414086 C T 323783 Benign Mitochondrial_myopathy_and_sideroblastic_anemi... . . 0.1274 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9449 683630 12 132427841 G A 665502 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9450 683631 12 132427909 A G 666180 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9451 226985 12 133196696 C A 230275 Benign/Likely_benign not_specified|not_provided 0.01738 0.02901 0.00938 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9452 676504 12 133212692 T C 665511 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9453 380211 12 133233705 T C 374780 Benign not_specified|not_provided 0.97294 0.97117 0.98383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9454 439266 12 133237753 G GA 432724 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome|not_sp... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9455 380209 12 133252796 C G 373073 Benign not_specified|not_provided 0.68215 . 0.57169 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9456 679673 12 133252947 T C 666617 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9457 676491 12 133253310 A G 666621 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9458 676488 12 133254083 T C 666220 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9459 676489 12 133256904 C T 666369 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9460 676486 12 133257999 GGCTCA G 666222 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9461 679670 12 133258088 C T 666374 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9462 380208 12 133263825 G A 373095 Benign not_specified|not_provided . 0.49014 0.37879 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9463 311285 13 20712746 CA C 335443 Benign Zonular_Pulverulent_Cataract . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9464 311296 13 20713527 T A 319093 Benign Zonular_Pulverulent_Cataract . . 0.95407 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9465 311298 13 20713694 G T 327537 Benign Zonular_Pulverulent_Cataract . . 0.97923 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9466 311308 13 20714863 C T 327539 Benign Zonular_Pulverulent_Cataract . . 0.27137 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9467 311312 13 20715037 A G 335505 Likely_benign Zonular_Pulverulent_Cataract . . 0.00919 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9468 311319 13 20715502 C T 335528 Benign Zonular_Pulverulent_Cataract . . 0.97804 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9469 311322 13 20715611 T C 335530 Likely_benign Zonular_Pulverulent_Cataract . . 0.00919 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9470 311327 13 20715877 C T 319109 Benign Zonular_Pulverulent_Cataract . . 0.24101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9471 311329 13 20715930 TCA T 335534 Benign Zonular_Pulverulent_Cataract . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9472 261459 13 20716533 G T 254822 Benign not_specified|Zonular_Pulverulent_Cataract|not... 0.96839 0.98676 0.96486 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9473 311353 13 20761763 A G 335544 Benign Mutilating_keratoderma|Hystrix-like_ichthyosis... . . 0.9972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9474 311356 13 20761888 C T 327575 Benign Mutilating_keratoderma|Hystrix-like_ichthyosis... . . 0.89337 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9475 311357 13 20761973 C A 333862 Benign Mutilating_keratoderma|Hystrix-like_ichthyosis... . . 0.87021 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9476 36277 13 20762956 A G 44941 Benign Mutilating_keratoderma|Hystrix-like_ichthyosis... . . 0.6867 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9477 44739 13 20763380 T C 53906 Benign Deafness,_autosomal_recessive_1A|not_specified... 0.00062 0.01459 0.03095 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9478 36279 13 20763642 C T 44943 Benign Deafness,_autosomal_recessive_1A|Deafness,_aut... 0.00254 0.04538 0.07189 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9479 311376 13 20796497 C A 333878 Likely_benign Hidrotic_ectodermal_dysplasia_syndrome|Nonsynd... . . 0.25479 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9480 402965 13 21189941 G A 390036 Benign not_specified 0.18141 0.13208 0.12999 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9481 402966 13 21205140 A T 390156 Benign not_specified 0.65824 0.7602 0.76478 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9482 402967 13 21205192 G A 390163 Benign not_specified 0.65824 0.76004 0.76478 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9483 311416 13 22245927 C CTT 333898 Benign Symphalangism-brachydactyly_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9484 311421 13 22255167 C T 327654 Benign Symphalangism-brachydactyly_syndrome 0.24704 0.32145 0.25339 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9485 311424 13 22275394 A G 333908 Benign Symphalangism-brachydactyly_syndrome 0.77403 . 0.83247 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9486 311426 13 22275583 G A 319176 Benign Symphalangism-brachydactyly_syndrome 0.98047 0.99482 0.98183 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9487 311478 13 23755127 G A 335624 Likely_benign Severe_autosomal_recessive_muscular_dystrophy_... . . 0.1252 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9488 684354 13 23808468 A T 667089 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9489 678210 13 23808623 C CTATT 666995 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9490 92654 13 23824783 T G 98561 Benign Severe_autosomal_recessive_muscular_dystrophy_... 0.47117 0.43426 0.52476 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9491 670553 13 23869771 G C 666264 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9492 684357 13 23869907 T C 667097 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9493 670065 13 23898454 C T 667021 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9494 92657 13 23898509 T C 98564 Benign/Likely_benign Severe_autosomal_recessive_muscular_dystrophy_... 0.5762 0.67442 0.62979 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9495 167681 13 23898664 A G 178066 Benign Severe_autosomal_recessive_muscular_dystrophy_... 0.82108 . 0.8778 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9496 288428 13 23898934 G A 272665 Benign/Likely_benign Severe_autosomal_recessive_muscular_dystrophy_... . . 0.35024 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9497 130201 13 23905711 A G 135648 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type|not_sp... 0.20455 0.27797 0.25839 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9498 130200 13 23907677 C T 135647 Benign Spastic_ataxia_Charlevoix-Saguenay_type|not_sp... 0.98439 0.99567 0.98542 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9499 130199 13 23907909 A G 135646 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type|not_sp... 0.20455 0.27779 0.25899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9500 130205 13 23909162 A G 135652 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type|not_sp... 0.20475 . 0.25919 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9501 130203 13 23911820 A G 135650 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type|not_sp... 0.20351 0.28091 0.25998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9502 240895 13 23928671 C T 241631 Benign Spastic_paraplegia|Spastic_ataxia_Charlevoix-S... 0.02576 0.02332 0.00819 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9503 260389 13 23985391 T C 254843 Benign/Likely_benign Spastic_ataxia_Charlevoix-Saguenay_type|not_sp... 0.27651 . 0.3111 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9504 769844 13 25016092 C T 702636 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9505 768604 13 25021144 GTCT G 778271 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9506 311588 13 25456631 G GT 335746 Benign Seckel_syndrome|Primary_Microcephaly,_Recessive . . 0.32388 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9507 311597 13 25456911 G A 327860 Benign Seckel_syndrome|Primary_Microcephaly,_Recessive . . 0.15435 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9508 311598 13 25456917 T C 335797 Benign Seckel_syndrome|Primary_Microcephaly,_Recessive . . 0.13498 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9509 678327 13 25457595 G T 667110 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9510 158213 13 25458232 AGTT A 169016 Benign Seckel_syndrome|not_specified|Primary_Microcep... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9511 158212 13 25458650 G A 169017 Benign not_specified|not_provided 0.7821 0.80662 0.7482 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9512 668064 13 25458853 T G 667360 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9513 680183 13 25459270 C T 667366 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9514 158208 13 25466774 T C 169021 Benign Seckel_syndrome|not_specified|Primary_Microcep... 0.76788 0.80358 0.73722 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9515 158207 13 25466955 T C 169022 Benign Seckel_syndrome|not_specified|Primary_Microcep... 0.45187 0.53945 0.48403 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9516 668063 13 25481614 T C 666271 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9517 678325 13 25482508 G A 666275 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9518 680180 13 25484392 C T 666278 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9519 673928 13 25486287 C T 667023 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9520 678324 13 25486515 C T 667027 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9521 21666 13 25487103 T C 34518 Benign Seckel_syndrome|Primary_autosomal_recessive_mi... 0.12179 . 0.15515 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9522 128488 13 26043182 A C 133937 Likely_benign not_specified 0.2412 0.19131 0.20407 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9523 128489 13 26148966 C T 133938 Likely_benign not_specified 0.70832 0.62866 0.53634 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9524 128490 13 26273385 G C 133939 Likely_benign not_specified 0.98982 0.99726 0.98742 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9525 311641 13 28195972 C T 319355 Likely_benign Treacher_Collins_Syndrome,_Dominant . . 0.08087 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9526 311646 13 28196100 G A 334181 Likely_benign Treacher_Collins_Syndrome,_Dominant 0.00325 . 0.002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9527 669733 13 28493997 G A 666284 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9528 683833 13 28494949 C G 667116 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9529 673552 13 28498323 G C 667377 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9530 134447 13 28624294 G A 138186 not_provided not_specified 0.52291 0.59878 0.55871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9531 162173 13 31819325 T C 171886 not_provided not_provided . . 0.20088 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9532 96626 13 31821256 C G 102519 Benign not_specified 0.40466 0.3617 0.2476 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9533 96628 13 31821992 T C 102521 Benign not_specified|not_provided 0.96399 0.98276 0.97544 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9534 96624 13 31891746 G A 102517 Benign not_specified|not_provided 0.65539 0.74246 0.66673 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9535 209598 13 32889363 G A 205808 Benign Breast-ovarian_cancer,_familial_2 . . 0.15955 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9536 209930 13 32889968 G A 205811 Benign Breast-ovarian_cancer,_familial_2 . . 0.74121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9537 209606 13 32891451 CAAGT C 205817 Benign Breast-ovarian_cancer,_familial_2 . . 0.25839 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9538 209931 13 32892217 C T 205823 Benign Breast-ovarian_cancer,_familial_2 . . 0.97424 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9539 209623 13 32894484 G A 205837 Benign Breast-ovarian_cancer,_familial_2 . . 0.04912 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9540 209934 13 32895377 G C 205843 Benign Breast-ovarian_cancer,_familial_2 . . 0.97424 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9541 209935 13 32899878 C T 205863 Benign Breast-ovarian_cancer,_familial_2 . . 0.97384 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9542 264863 13 32901905 A AT 259427 Benign Breast-ovarian_cancer,_familial_2 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9543 209936 13 32905265 G A 205884 Benign Breast-ovarian_cancer,_familial_2 . . 0.97404 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9544 9329 13 32906729 A C 24368 Benign Breast_carcinoma|Hereditary_breast_and_ovarian... . 0.27793 0.2494 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9545 209937 13 32908106 A G 205894 Benign Breast-ovarian_cancer,_familial_2 . . 0.97404 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9546 132779 13 32913055 A G 136527 Benign Hereditary_breast_and_ovarian_cancer_syndrome|... 0.97577 . 0.97404 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9547 132780 13 32915005 G C 136528 Benign Hereditary_breast_and_ovarian_cancer_syndrome|... 0.97547 . 0.97364 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9548 264926 13 32918303 GA G 259450 Benign Breast-ovarian_cancer,_familial_2 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9549 209938 13 32920016 G A 205931 Benign Breast-ovarian_cancer,_familial_2|not_specified . . 0.97404 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9550 209714 13 32920618 G A 205936 Benign Breast-ovarian_cancer,_familial_2 . . 0.42332 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9551 209939 13 32920844 T C 205938 Benign Breast-ovarian_cancer,_familial_2|not_specified . . 0.97404 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9552 209738 13 32924884 C T 205961 Benign Breast-ovarian_cancer,_familial_2 . . 0.2482 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9553 209747 13 32927017 G A 205970 Benign Breast-ovarian_cancer,_familial_2 . . 0.03714 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9554 209940 13 32928317 T C 205977 Benign Breast-ovarian_cancer,_familial_2 . . 0.97584 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9555 133738 13 32929387 T C 137477 Benign Ductal_breast_carcinoma|Breast-ovarian_cancer,... 0.9777 0.99372 0.97584 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9556 264968 13 32930936 G A 259469 Benign Breast-ovarian_cancer,_familial_2 . . 0.9986 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9557 209763 13 32933022 G T 205988 Benign Breast-ovarian_cancer,_familial_2 . . 0.4409 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9558 209942 13 32933937 A G 205991 Benign Breast-ovarian_cancer,_familial_2 . . 0.97624 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9559 209783 13 32938755 C CT 206009 Benign Breast-ovarian_cancer,_familial_2 . . 0.21046 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9560 209788 13 32939302 G A 206014 Benign Breast-ovarian_cancer,_familial_2 . . 0.22065 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9561 264906 13 32942948 T G 259489 Benign Breast-ovarian_cancer,_familial_2 . . 0.22404 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9562 209821 13 32945932 C T 206049 Benign Breast-ovarian_cancer,_familial_2 . . 0.20887 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9563 209945 13 32946011 A G 206051 Benign Breast-ovarian_cancer,_familial_2 . . 0.97604 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9564 209946 13 32946415 C T 206053 Benign Breast-ovarian_cancer,_familial_2 . . 0.97604 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9565 209950 13 32954741 T A 206082 Benign Breast-ovarian_cancer,_familial_2 . . 0.97664 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9566 209850 13 32954913 G A 206084 Benign Breast-ovarian_cancer,_familial_2 . . 0.00559 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9567 209858 13 32956757 G A 206093 Benign Breast-ovarian_cancer,_familial_2 . . 0.22804 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9568 209867 13 32958997 G A 206102 Benign Breast-ovarian_cancer,_familial_2 . . 0.02636 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9569 209870 13 32959534 A G 206106 Benign Breast-ovarian_cancer,_familial_2 . . 0.20927 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9570 209872 13 32959789 T C 206108 Benign Breast-ovarian_cancer,_familial_2 . . 0.22863 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9571 264910 13 32961189 G GC 259515 Benign Breast-ovarian_cancer,_familial_2 . . 0.97664 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9572 209878 13 32961497 C T 206116 Benign Breast-ovarian_cancer,_familial_2 . . 0.01138 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9573 264867 13 32962258 C CT 259517 Benign Breast-ovarian_cancer,_familial_2 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9574 209884 13 32963529 C G 206125 Benign Breast-ovarian_cancer,_familial_2 . . 0.05112 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9575 209891 13 32964504 C T 206133 Benign Breast-ovarian_cancer,_familial_2 . . 0.16034 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9576 209893 13 32965310 G A 206135 Benign Breast-ovarian_cancer,_familial_2 . . 0.22824 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9577 209959 13 32965651 T C 206136 Benign Breast-ovarian_cancer,_familial_2 . . 0.97664 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9578 209902 13 32967374 TC T 206145 Benign Breast-ovarian_cancer,_familial_2 . . 0.15994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9579 209903 13 32967809 C G 206147 Benign Breast-ovarian_cancer,_familial_2 . . 0.16014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9580 209911 13 32969248 A G 206157 Benign Breast-ovarian_cancer,_familial_2 . . 0.16014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9581 209917 13 32970586 A G 206163 Benign Breast-ovarian_cancer,_familial_2 . . 0.21006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9582 209964 13 32971425 T C 206167 Benign Breast-ovarian_cancer,_familial_2 . . 0.97684 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9583 125927 13 32973012 A C 131465 Benign Hereditary_breast_and_ovarian_cancer_syndrome|... . . 0.16074 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9584 311680 13 33590851 T C 334231 Benign Tumoral_calcinosis,_hyperphosphatemic,_familia... 0.94747 0.98652 0.94409 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9585 311701 13 33635463 T C 319386 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial 0.76895 0.8036 0.71086 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9586 311705 13 33635835 T C 334253 Benign Tumoral_calcinosis,_hyperphosphatemic,_familial 0.96832 0.99186 0.97624 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9587 311724 13 33639609 A G 334285 Likely_benign Tumoral_calcinosis,_hyperphosphatemic,_familial . . 0.01258 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9588 311757 13 36877878 T C 336031 Benign Troyer_syndrome . . 0.98902 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9589 311793 13 37401917 GT G 319478 Benign Bare_lymphocyte_syndrome_2 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9590 311796 13 37402362 C T 328029 Likely_benign Bare_lymphocyte_syndrome_2 . . 0.00938 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9591 311797 13 37402440 T C 336079 Benign Bare_lymphocyte_syndrome_2 . . 0.79613 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9592 311802 13 37403143 G A 328035 Likely_benign Bare_lymphocyte_syndrome_2 . . 0.14137 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9593 311809 13 37419035 G T 319497 Benign Primary_pulmonary_hypertension . . 0.11442 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9594 311810 13 37419042 AGTT A 319502 Benign Primary_pulmonary_hypertension . . 0.32089 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9595 311832 13 37419636 AAATGTT A 336116 Benign Primary_pulmonary_hypertension . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9596 311838 13 37420301 TAGATTA T 319534 Benign Primary_pulmonary_hypertension . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9597 311839 13 37420348 A G 334428 Benign Primary_pulmonary_hypertension . . 0.43011 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9598 311883 13 37422377 AG A 334468 Benign Primary_pulmonary_hypertension . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9599 675286 13 37423032 G A 667127 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9600 672486 13 37439964 C A 667034 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9601 683862 13 37440146 T C 667035 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9602 802960 13 37580139 G A 791343 Benign Pontocerebellar_hypoplasia,_type_1c . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9603 263299 13 39262057 G A 254848 Benign Fraser_syndrome_1|not_specified 0.99977 0.99997 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9604 193535 13 39263023 C T 190699 Benign Fraser_syndrome_1|not_specified 0.18694 0.19033 0.08427 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9605 193536 13 39263714 T C 190700 Benign Fraser_syndrome_1|not_specified . 0.99997 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9606 263300 13 39430314 C T 254849 Benign Fraser_syndrome_1|not_specified 0.7219 0.73977 0.77197 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9607 263301 13 39433606 A G 254850 Benign Fraser_syndrome_1|not_specified 0.39782 0.37337 0.4367 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9608 312045 13 39455266 G A 328237 Benign Fraser_syndrome_1 . . 0.32628 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9609 312052 13 39456352 A G 336408 Benign Fraser_syndrome_1 . . 0.43391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9610 312065 13 39457064 C G 334678 Benign Fraser_syndrome_1 . . 0.43391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9611 312075 13 39457850 G A 328254 Benign Fraser_syndrome_1 . . 0.29872 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9612 312078 13 39458116 T C 336428 Benign Fraser_syndrome_1 . . 0.30371 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9613 312080 13 39458405 G A 328262 Benign Fraser_syndrome_1 . . 0.30371 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9614 312087 13 39459389 C T 328264 Benign Fraser_syndrome_1 . . 0.7474 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9615 312089 13 39459484 G A 328272 Benign Fraser_syndrome_1 . . 0.29872 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9616 312093 13 39459694 C T 319727 Benign Fraser_syndrome_1 . . 0.30871 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9617 312099 13 39460415 G A 319745 Benign Fraser_syndrome_1 . . 0.7504 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9618 312101 13 39460466 T A 319746 Benign Fraser_syndrome_1 . . 0.30851 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9619 312104 13 39460486 C G 319751 Benign Fraser_syndrome_1 . . 0.43411 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9620 312106 13 39460522 T TAG,G 336477 Benign Fraser_syndrome_1 . . 0.46446 1|2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
9621 312111 13 39460539 AT A 336493 Benign Fraser_syndrome_1 . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9622 312113 13 39460657 C T 328287 Benign Fraser_syndrome_1 . . 0.43431 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9623 312116 13 39460823 C T 328291 Benign Fraser_syndrome_1 . . 0.25719 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9624 193435 13 40229842 A AG 190599 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9625 193436 13 40229891 G A 190600 Benign Congenital_disorder_of_glycosylation|not_speci... 0.43809 . 0.48443 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9626 193437 13 40229957 T A 190601 Benign Congenital_disorder_of_glycosylation|not_speci... 0.41606 0.51315 0.48423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9627 312139 13 40261945 A G 336505 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.28848 0.25988 0.29553 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9628 312153 13 40325310 C T 328314 Benign Congenital_disorder_of_glycosylation . 0.51466 0.46645 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9629 312159 13 40326282 A G 334793 Benign Congenital_disorder_of_glycosylation . 0.44361 0.27596 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9630 312160 13 40326284 CA C 328326 Benign Congenital_disorder_of_glycosylation . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9631 312168 13 41363595 T C 319824 Benign Hyperornithinemia-hyperammonemia-homocitrullin... . . 0.57728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9632 683871 13 41372944 C T 667130 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9633 139125 13 41373254 G A 142828 Benign/Likely_benign Hyperornithinemia-hyperammonemia-homocitrullin... 0.09157 0.07932 0.0629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9634 672018 13 41378982 G A 667132 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9635 139126 13 41379272 C T 142829 Benign/Likely_benign Hyperornithinemia-hyperammonemia-homocitrullin... 0.12517 0.09551 0.11342 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9636 672019 13 41379550 A G 667040 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9637 139127 13 41382711 A T 142830 Benign Hyperornithinemia-hyperammonemia-homocitrullin... 0.34223 0.37248 0.32268 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9638 674052 13 41382886 G A 667391 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9639 672020 13 41383036 A C 667044 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9640 683874 13 41383515 A G 667046 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9641 312187 13 41384156 A G 336595 Benign Hyperornithinemia-hyperammonemia-homocitrullin... . . 0.42372 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9642 312189 13 41384318 A G 319839 Benign Hyperornithinemia-hyperammonemia-homocitrullin... . . 0.42372 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9643 312190 13 41384382 C T 336610 Benign Hyperornithinemia-hyperammonemia-homocitrullin... . . 0.42372 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9644 312197 13 41384732 G C 336614 Likely_benign Hyperornithinemia-hyperammonemia-homocitrullin... . . 0.05292 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9645 312204 13 41385444 G T 319871 Likely_benign Hyperornithinemia-hyperammonemia-homocitrullin... . . 0.04213 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9646 312209 13 41385658 C A 334838 Benign Hyperornithinemia-hyperammonemia-homocitrullin... . . 0.23163 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9647 312222 13 43148313 C G 328402 Benign Osteopetrosis . . 0.9988 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9648 193257 13 43148565 T C 190421 Benign Osteopetrosis|not_specified 0.38615 0.52363 0.46546 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9649 195202 13 43155443 G A 192363 Benign Osteopetrosis|not_specified 0.82485 0.81152 0.78834 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9650 312243 13 43181318 G T 319888 Benign Osteopetrosis . . 0.99461 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9651 312251 13 43182002 G T 319894 Benign Osteopetrosis . . 0.33287 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9652 226025 13 47411985 A G 227777 drug_response Major_depressive_disorder,_response_to_citalop... . . 0.72724 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9653 511089 13 47469940 G A 504274 Likely_benign not_specified 0.40066 0.40715 0.44129 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9654 511090 13 47471478 C T 504813 Likely_benign not_specified . . 0.44349 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9655 312254 13 48516845 G T 319895 Likely_benign Mitochondrial_DNA_depletion_syndrome . . 0.08227 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9656 312259 13 48517178 T C 328423 Likely_benign Mitochondrial_DNA_depletion_syndrome . . 0.08247 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9657 312262 13 48517289 A G 319904 Benign Mitochondrial_DNA_depletion_syndrome . . 0.94189 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9658 672631 13 48522909 T C 667394 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9659 676449 13 48523567 T C 667140 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9660 672630 13 48523952 C T 666299 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9661 684103 13 48524020 T C 666305 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9662 671130 13 48524042 A T 667146 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9663 671617 13 48528007 A G 666307 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9664 671999 13 48529003 C T 667158 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9665 670147 13 48547170 A C 666308 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9666 670146 13 48547180 C T 667169 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9667 139360 13 48547467 A T 143063 Benign Mitochondrial_DNA_depletion_syndrome|not_speci... 0.74204 0.75155 0.68351 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9668 676453 13 48547663 T C 667174 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9669 139358 13 48563008 G A 143061 Benign Mitochondrial_DNA_depletion_syndrome|not_speci... 0.74197 0.75152 0.68351 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9670 676421 13 48563246 A G 666315 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9671 671225 13 48570710 T C 667177 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9672 670145 13 48571383 C T 666317 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9673 676448 13 48575587 G C 667072 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9674 684102 13 48575693 G T 667395 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9675 255825 13 48919358 T G 254854 Benign not_specified 0.92832 0.96075 0.91374 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9676 255823 13 49051012 C T 254858 Benign not_specified 0.89582 0.95521 0.88498 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9677 312343 13 52507110 G C 319950 Benign Wilson_disease . . 0.52396 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9678 680486 13 52510160 G A 666319 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9679 254770 13 52511362 C G 254860 Benign not_specified|not_provided 0.57281 0.56071 0.53175 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9680 35727 13 52511606 G A 44391 Benign/Likely_benign Wilson_disease|not_specified|not_provided 0.54909 0.53738 0.5018 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9681 680485 13 52512888 C T 667078 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9682 35720 13 52515354 A G 44384 Benign Wilson_disease|not_specified 0.57756 0.56526 0.54054 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9683 680483 13 52516230 T C 666326 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9684 680484 13 52517955 C T 667405 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9685 35713 13 52520507 C T 44377 Benign/Likely_benign Wilson_disease|not_specified 0.0529 0.05802 0.02496 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9686 35709 13 52520627 C G 44373 Benign/Likely_benign Wilson_disease|not_specified 0.09534 0.07199 0.11362 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9687 35708 13 52523808 C T 44372 Benign Wilson_disease|not_specified 0.57166 0.56269 0.53095 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9688 35707 13 52524488 T C 44371 Benign Wilson_disease|not_specified 0.55217 0.53844 0.5024 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9689 680481 13 52531960 C T 667187 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9690 676098 13 52542796 T G 667410 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9691 312405 13 52585548 G T 336917 Benign Wilson_disease|Congenital_disorder_of_glycosyl... 0.59505 . 0.51677 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9692 538871 13 52585881 A G 528164 Benign Congenital_disorder_of_glycosylation_type_1P|n... . . 0.07288 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9693 487323 13 52586922 T C 463943 Likely_benign not_provided . . 0.02196 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9694 312422 13 52603194 G T 335052 Benign Congenital_disorder_of_glycosylation 0.63286 0.64785 0.58127 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9695 312423 13 52603241 A G 320003 Likely_benign Congenital_disorder_of_glycosylation 0.10003 0.11199 0.08007 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9696 312426 13 52603775 C T 320004 Benign Congenital_disorder_of_glycosylation 0.56443 0.62881 0.51058 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9697 517823 13 60240961 C T 504304 Benign not_specified 0.20298 0.20412 0.14697 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9698 508094 13 60385060 A ATTAC 504579 Benign Auditory_neuropathy,_autosomal_dominant,_1|not... . . 0.92911 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9699 508609 13 60545182 G A 505207 Benign not_specified|not_provided 0.03069 0.02687 0.01198 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9700 683133 13 60737996 TCCGC T 656213 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9701 130861 13 75861001 A G 136305 Likely_benign not_specified 0.18644 0.08323 0.17432 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9702 212373 13 75861174 G GA 208052 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9703 130552 13 75866284 G A 135998 Likely_benign not_specified 0.0896 0.08198 0.03634 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9704 130550 13 75876389 G A 135996 Likely_benign not_specified 0.48312 0.49107 0.36921 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9705 130549 13 75884216 C T 135995 Likely_benign not_specified 0.76502 0.82564 0.71186 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9706 130548 13 75884290 G A 135994 Likely_benign not_specified 0.31973 0.35749 0.22604 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9707 130556 13 75936519 C G 136002 Likely_benign not_specified 0.99768 . 0.99521 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9708 130551 13 76055602 G A 135997 Likely_benign not_specified 0.07247 0.0967 0.11102 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9709 789220 13 77460023 G A 713972 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9710 670727 13 77565972 A G 666343 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9711 95396 13 77566320 C G 101295 Benign/Likely_benign Seizures|Neuronal_ceroid_lipofuscinosis|not_sp... 0.0226 0.02693 0.01298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9712 768620 13 78272267 T TGG 702735 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9713 768621 13 78272276 G GC 702736 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9714 226622 13 78475313 T C 230450 Benign Waardenburg_syndrome|not_specified|Hirschsprun... 0.59743 0.5799 0.54473 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9715 226625 13 78477674 A G 230453 Benign not_specified 0.98493 0.99488 0.98383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9716 506089 13 86369120 C T 497033 Benign not_specified 0.7661 0.72103 0.75 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9717 312529 13 93879087 G A 337079 Benign Omodysplasia . . 0.39357 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9718 312547 13 95034749 G A 320094 Benign Omodysplasia_1|Omodysplasia 0.15301 0.21057 0.17093 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9719 312560 13 95055795 G GT 328645 Benign Omodysplasia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9720 312577 13 95056768 C T 335285 Benign Omodysplasia . . 0.1891 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9721 312598 13 95059164 A G 337158 Benign Omodysplasia . . 0.1899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9722 312602 13 95059304 G C 328704 Benign Omodysplasia . . 0.88139 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9723 225959 13 95714976 C T 227778 drug_response tenofovir_response_-_Metabolism/PK 0.79656 0.81214 0.79433 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9724 402794 13 99554621 G A 390093 Benign not_specified 0.0332 0.04482 0.03015 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9725 95446 13 100635377 C T 101345 Benign not_specified 0.08227 0.07992 0.04173 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9726 669662 13 100635606 G A 667117 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9727 669947 13 100809805 A G 667042 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9728 669953 13 100861262 C T 666225 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9729 92765 13 100921056 A G 98672 Benign Propionyl-CoA_carboxylase_deficiency|not_speci... 0.9175 0.97702 0.91594 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9730 255734 13 101020695 A G 254773 Benign not_specified 0.6823 0.69662 0.55272 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9731 676165 13 101077774 G A 666233 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9732 262253 13 101776954 G A 254785 Benign not_specified|not_provided 0.01046 0.00864 0.00399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9733 262252 13 101795422 A G 254786 Benign not_specified 0.505 0.49099 0.52177 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9734 262250 13 101881777 G A 254788 Benign not_specified 0.28295 0.2858 0.19229 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9735 310903 13 103498198 A G 333317 Benign Xeroderma_pigmentosum . . 0.6889 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9736 310904 13 103498375 T C 318811 Benign Xeroderma_pigmentosum . . 0.29792 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9737 129009 13 103504517 T C 134455 Benign Xeroderma_pigmentosum|Xeroderma_pigmentosum,_g... 0.6118 0.5291 0.49301 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9738 255161 13 103524762 C T 254793 Benign Xeroderma_pigmentosum|Xeroderma_pigmentosum,_g... 0.43449 0.4513 0.31709 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9739 134172 13 103527849 G C 137911 Benign Xeroderma_pigmentosum,_group_G|not_specified 0.99746 . 0.9982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9740 134173 13 103527930 G C 137912 not_provided not_specified 0.99746 . 0.9972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9741 129011 13 103528002 G C 134457 Benign Xeroderma_pigmentosum|Xeroderma_pigmentosum,_g... 0.30578 0.27768 0.36142 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9742 310945 13 103528337 G A 318841 Benign Xeroderma_pigmentosum . . 0.54952 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9743 403446 13 103705044 A C 390031 Benign not_specified 0.89243 0.86099 0.84026 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9744 310948 13 108859846 C T 318850 Likely_benign Lig4_syndrome|Severe_combined_immunodeficiency... . . 0.12979 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9745 8820 13 110435231 C T 23859 risk_factor DIABETES,_TYPE_II,_SUSCEPTIBILITY_TO . 0.38205 0.28335 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9746 768633 13 110435302 T C 702582 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9747 258255 13 110813709 G A 254798 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.35676 0.37559 0.30791 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9748 197520 13 110818598 T G 194681 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.32124 . 0.28834 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9749 258251 13 110827574 T A 254801 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.33592 0.3515 0.31789 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9750 258250 13 110827580 C T 254802 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.33592 . 0.31809 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9751 258249 13 110833702 C T 254803 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.32162 0.34768 0.30711 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9752 258248 13 110835460 C T 254804 Benign not_specified 0.10529 0.11525 0.08167 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9753 258247 13 110839550 T G 254805 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9754 258266 13 110857823 C T 254807 Benign not_specified 0.56858 0.61933 0.59345 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9755 258265 13 110857895 A G 254808 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.57012 0.62224 0.59645 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9756 258262 13 110859743 C T 254810 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.56866 0.62105 0.59605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9757 258261 13 110861785 C G 254811 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.85008 . 0.86122 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9758 258254 13 110864225 A T 254813 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.43957 0.46723 0.47284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9759 198472 13 110864264 C T 195633 Benign/Likely_benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.00484 0.00719 0.00659 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9760 258264 13 110895092 A G 254814 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... 0.25588 0.19072 0.1899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9761 193216 13 110959356 C G 190381 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... . 0.48236 0.42412 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9762 311087 13 110959464 C A 335235 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... . . 0.248 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9763 311089 13 110959643 A C 333543 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... . . 0.61502 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9764 311090 13 110959688 C G 327337 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... . . 0.30891 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9765 311091 13 110959705 C T 327338 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... . . 0.50939 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9766 311092 13 110959717 T C 333546 Benign Porencephalic_cyst|Angiopathy,_hereditary,_wit... . . 0.30611 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9767 311096 13 111077197 G A 335259 Benign Porencephalic_cyst 0.93271 0.96135 0.94269 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9768 311117 13 111098226 C T 333580 Benign Porencephalic_cyst|not_provided 0.48987 0.51372 0.48283 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9769 311119 13 111102042 G A 333585 Benign Porencephalic_cyst|not_provided 0.26285 0.31443 0.23862 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9770 311120 13 111102126 C T 318936 Benign Porencephalic_cyst|not_provided 0.28476 0.33824 0.24681 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9771 311128 13 111111173 G A 333595 Benign Porencephalic_cyst|not_provided 0.62097 0.52883 0.49141 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9772 311129 13 111111235 G A 333604 Benign Porencephalic_cyst|not_provided 0.63458 0.53895 0.50919 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9773 311134 13 111117745 C T 333615 Benign Porencephalic_cyst|not_provided 0.6132 0.53833 0.51398 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9774 311145 13 111121620 C T 318982 Benign Porencephalic_cyst|not_provided 0.23106 0.25539 0.1909 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9775 311151 13 111132556 C T 335312 Benign Porencephalic_cyst|not_provided 0.23988 0.31003 0.24641 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9776 311153 13 111137240 A G 327386 Benign Porencephalic_cyst|not_provided 0.13124 0.15696 0.1258 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9777 311171 13 111155779 G A 333642 Benign Porencephalic_cyst|not_provided 0.24198 . 0.1863 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9778 311180 13 111158874 A G 333651 Benign Porencephalic_cyst|not_provided 0.87092 0.83291 0.752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9779 311183 13 111160304 G A 319027 Benign Porencephalic_cyst|not_provided 0.08723 0.10098 0.10084 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9780 311188 13 111164266 C T 335349 Likely_benign Porencephalic_cyst 0.00424 0.00135 0.00559 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9781 311190 13 111164274 T C 327437 Benign/Likely_benign Porencephalic_cyst|not_provided 0.00433 0.00136 0.00559 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9782 311200 13 111164614 T C 327453 Benign Porencephalic_cyst . . 0.46625 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9783 311201 13 111164628 TAA T 335357 Benign Porencephalic_cyst . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9784 683459 13 111315506 A C 666983 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9785 683458 13 111315551 A G 667067 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9786 683456 13 111316043 G C 667070 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9787 683455 13 111316061 C T 666992 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9788 379949 13 111319754 T C 372639 Benign not_specified 0.7748 0.8022 0.76238 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9789 683447 13 111354110 T C 667351 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9790 256307 13 113792754 T C 254819 Benign not_specified 0.78645 0.8359 0.80272 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9791 256308 13 113801737 C T 254820 Benign Factor_X_deficiency|not_specified 0.73912 . 0.6232 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9792 138729 14 20940515 C T 142432 Benign/Likely_benign Purine-nucleoside_phosphorylase_deficiency|not... 0.18122 0.1664 0.17213 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9793 13992 14 20940606 G A 29031 Benign NUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM|Purine-n... . 0.19196 0.20467 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9794 138730 14 20940626 C T 142433 Benign/Likely_benign Purine-nucleoside_phosphorylase_deficiency|not... 0.19829 0.19324 0.20447 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9795 312730 14 20942744 A G 320249 Benign Purine-nucleoside_phosphorylase_deficiency|not... 0.24089 0.19433 0.20228 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9796 312745 14 20945488 T C 328812 Benign Purine-nucleoside_phosphorylase_deficiency . . 0.97744 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9797 312749 14 20945817 T C 335445 Likely_benign Purine-nucleoside_phosphorylase_deficiency . . 0.03714 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9798 312750 14 20945864 T TG 328815 Likely_benign Purine-nucleoside_phosphorylase_deficiency . . 0.17033 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9799 312751 14 20945906 A C 337323 Likely_benign Purine-nucleoside_phosphorylase_deficiency . . 0.20527 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9800 312758 14 20946151 T C 328851 Benign Purine-nucleoside_phosphorylase_deficiency . . 0.32228 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9801 312768 14 21152604 C A 320277 Likely_benign Amyotrophic_Lateral_Sclerosis,_Dominant . . 0.09784 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9802 99827 14 21770730 A G 105716 Benign Leber_congenital_amaurosis|not_specified|Cone-... 0.48248 0.54801 0.47724 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9803 4987 14 21790040 G T 20026 Benign/Likely_benign Leber_congenital_amaurosis|Cone-rod_dystrophy_... . 0.21049 0.16733 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9804 99812 14 21792811 G A 105701 Benign/Likely_benign Leber_congenital_amaurosis|not_specified|Cone-... 0.23137 0.21258 0.1847 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9805 261227 14 21793236 G A 254910 Benign/Likely_benign Leber_congenital_amaurosis|not_specified|Cone-... 0.21419 0.19715 0.14517 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9806 261228 14 21796784 G C 254911 Benign Leber_congenital_amaurosis|not_specified|Cone-... 0.26376 0.33731 0.29533 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9807 587786 14 21871653 C T 579920 Benign History_of_neurodevelopmental_disorder 0.94097 0.90926 0.90735 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9808 403461 14 23240713 T TAGC 390596 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9809 139197 14 23242828 T C 142900 Benign Lysinuric_protein_intolerance|not_specified 0.76918 0.8651 0.78554 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9810 684066 14 23247687 T C 667572 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9811 380186 14 23282336 G A 373723 Benign Lysinuric_protein_intolerance|not_specified 0.0143 0.01225 0.00419 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9812 139198 14 23282449 C T 142901 Benign Lysinuric_protein_intolerance|not_specified 0.56243 0.6073 0.60603 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9813 684063 14 23282908 T TGCAA 666498 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9814 312832 14 23284572 A G 337424 Benign Lysinuric_protein_intolerance . 0.52939 0.57808 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9815 312835 14 23288935 C G 335556 Likely_benign Lysinuric_protein_intolerance . . 0.11701 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9816 312838 14 23288953 A G 335564 Likely_benign Lysinuric_protein_intolerance . . 0.11701 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9817 258710 14 23856896 A G 254919 Benign not_specified 0.46778 0.49574 0.47165 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9818 36628 14 23858271 AG A 45290 Conflicting_interpretations_of_pathogenicity Atrial_septal_defect|Cardiomyopathy|Hypertroph... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9819 44544 14 23872666 T C 53711 Benign/Likely_benign Atrial_septal_defect|Hypertrophic_cardiomyopat... 0.82808 0.75651 0.78494 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9820 188649 14 23882043 C T 186460 Benign/Likely_benign Hypertrophic_cardiomyopathy|Scapuloperoneal_my... 0.00484 0.00496 0.0014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9821 667619 14 23897466 G A 667431 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9822 43116 14 23899793 G A 52286 Benign Cardiomyopathy|Hypertrophic_cardiomyopathy|Sca... 0.02099 0.02085 0.01458 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9823 42869 14 23902753 G A 52039 Benign Cardiomyopathy|Hypertrophic_cardiomyopathy|Sca... 0.52753 0.48885 0.52037 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9824 312935 14 24550224 C T 335678 Likely_benign Retinitis_Pigmentosa,_Dominant . . 0.41713 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9825 803011 14 24567498 A C 791396 Benign Phosphoenolpyruvate_carboxykinase_deficiency,_... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9826 769857 14 25101548 G A 702849 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9827 769858 14 25101589 G C 702850 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9828 769859 14 25101629 T C 702851 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9829 177681 14 31347012 T C 176082 Benign not_specified|not_provided . . 0.21386 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9830 226525 14 31355096 C G 230521 Benign Deafness,_autosomal_dominant_9|not_specified|N... 0.51199 0.54915 0.41134 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9831 226528 14 31355527 C A 230525 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.04342 0.06591 0.07169 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9832 669811 14 31535057 A G 667323 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9833 680071 14 31541938 CAAGT C 667452 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9834 683212 14 32047450 C A 667453 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9835 683233 14 32068215 A G 666544 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9836 671489 14 32068242 A C 666547 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9837 683234 14 32142930 A G 667455 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9838 669937 14 32256711 A G 666548 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9839 683237 14 32296156 G A 667460 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9840 669941 14 32319562 A G 667648 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9841 669526 14 32328164 G T 666554 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9842 313032 14 32328508 G C 337651 Likely_benign Mitochondrial_complex_I_deficiency . . 0.0625 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9843 313046 14 32329381 T C 329185 Benign Mitochondrial_complex_I_deficiency . . 0.60503 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9844 313067 14 32330071 A G 337727 Benign Mitochondrial_complex_I_deficiency . . 0.48602 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9845 313068 14 32330080 G A 320435 Benign Mitochondrial_complex_I_deficiency . . 0.48602 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9846 313072 14 32330260 A G 329216 Benign Mitochondrial_complex_I_deficiency . . 0.4976 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9847 313079 14 35180033 C A 335822 Benign Nemaline_Myopathy,_Recessive . 0.24689 0.27596 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9848 313082 14 35180389 T A 320449 Benign Nemaline_Myopathy,_Recessive . 0.41304 0.34205 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9849 313083 14 35180677 AT A 329225 Benign Nemaline_Myopathy,_Recessive . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9850 313088 14 35181146 A G 337734 Benign Nemaline_Myopathy,_Recessive . 0.24622 0.27616 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9851 313094 14 35181786 T C 329237 Benign Nemaline_Myopathy,_Recessive . 0.2563 0.3099 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9852 673808 14 35183213 T C 667337 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9853 681265 14 35183888 C G 667658 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9854 668881 14 35184228 C T 667664 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9855 668071 14 35184246 T C 667472 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9856 6796 14 35761675 C G 21835 risk_factor Myocardial_infarction 0.13094 . 0.1903 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9857 313105 14 35871093 C T 337761 Benign Ectodermal_dysplasia_and_immunodeficiency_2|no... . . 0.45567 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9858 313108 14 35871217 G A 329242 Benign Ectodermal_dysplasia_and_immunodeficiency_2|no... 0.44487 0.4011 0.44788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9859 313117 14 35873770 G A 329256 Benign Ectodermal_dysplasia_and_immunodeficiency_2|no... 0.22869 0.34309 0.24441 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9860 313128 14 36986022 CA CAA,C 335868 Uncertain_significance Benign_hereditary_chorea|Choreoathetosis,_hypo... . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
9861 313133 14 36986273 A T 320501 Benign Benign_hereditary_chorea|Choreoathetosis,_hypo... . . 0.62181 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9862 313149 14 36989419 C A 329293 Benign Benign_hereditary_chorea|Choreoathetosis,_hypo... . . 0.10803 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9863 313152 14 37126871 A AC 337831 Likely_benign Selective_tooth_agenesis . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9864 313155 14 37127044 C G 337835 Likely_benign Selective_tooth_agenesis . . 0.3762 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9865 259937 14 37135753 G C 254940 Benign/Likely_benign Selective_tooth_agenesis|Tooth_agenesis,_selec... 0.31672 0.43249 0.33167 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9866 683729 14 39556185 G C 656251 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9867 261385 14 45645715 A G 254947 Benign/Likely_benign Fanconi_anemia|not_specified 0.02068 0.02531 0.01298 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9868 261391 14 45665661 A G 254952 Benign/Likely_benign Fanconi_anemia|not_specified 0.02076 . 0.00859 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9869 313249 14 50087753 T C 320629 Benign Primary_ciliary_dyskinesia|Congenital_disorder... . 0.4935 0.29533 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9870 313270 14 50091932 T A 329433 Benign Primary_ciliary_dyskinesia|Congenital_disorder... . . 0.54153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9871 163091 14 50092471 T C 175940 Benign Primary_ciliary_dyskinesia|Congenital_disorder... 0.42073 0.451 0.30871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9872 261017 14 50094913 C A 254955 Benign not_specified 0.72531 0.6384 0.54193 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9873 95892 14 50100386 T C 101788 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.66636 0.64859 0.48822 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9874 95891 14 50100683 C G 101787 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... . 0.61346 0.5591 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9875 95894 14 50101370 G A 101790 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.68525 0.65251 0.49341 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9876 95893 14 50101682 C G 101789 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.71338 . 0.49321 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9877 517059 14 50585574 C CA 505456 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9878 561523 14 50596862 T C 552772 Benign not_provided . . 0.85383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9879 561524 14 50597012 T C 552774 Benign not_provided . . 0.53015 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9880 561606 14 50601078 C T 552781 Benign not_provided . . 0.24141 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9881 561604 14 50605158 C T 552786 Benign not_provided . . 0.84445 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9882 561838 14 50606384 A G 552787 Benign not_provided . . 0.85344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9883 561605 14 50606434 T C 552788 Benign not_provided . . 0.2514 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9884 561538 14 50606897 A G 552791 Benign not_provided . . 0.88478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9885 561518 14 50611845 C T 552792 Benign not_provided 0.86271 0.87162 0.85344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9886 561537 14 50612401 T C 552793 Benign not_provided . . 0.83387 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9887 561603 14 50612414 C T 552794 Benign not_provided . . 0.85344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9888 561602 14 50612457 C T 552795 Benign not_provided . . 0.83387 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9889 384710 14 50616878 G A 376065 Benign not_provided 0.60795 0.62145 0.51837 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9890 561601 14 50619927 A G 552796 Benign not_provided 0.31342 . 0.2472 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9891 561632 14 50625194 TTGAG T 552800 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9892 561599 14 50626836 C T 552804 Benign not_provided 0.86229 0.87161 0.85304 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9893 561871 14 50627934 G A 552806 Benign not_provided . . 0.52276 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9894 561836 14 50627948 C T 552807 Benign not_provided . . 0.89317 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9895 561597 14 50628481 C A 552808 Benign not_provided . . 0.99481 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9896 561531 14 50641347 T G 552812 Benign not_provided . . 0.89257 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9897 561868 14 50654921 G A 552824 Benign not_provided . . 0.2472 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9898 561835 14 50654949 C T 552825 Benign not_provided . . 0.83706 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9899 561593 14 50655146 CTATT C 552827 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9900 561541 14 50666263 C T 552830 Benign not_provided . . 0.53614 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9901 561590 14 50667526 G A 552832 Benign not_provided . . 0.85204 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9902 561865 14 50668067 G A 552834 Benign not_provided . . 0.248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9903 561519 14 50670965 G C 552835 Benign not_provided 0.88225 0.88328 0.85783 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9904 383779 14 50671133 A G 376072 Benign not_provided 0.31876 0.34372 0.24201 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9905 158797 14 50732042 G A 169064 Likely_benign not_specified 0.3593 0.43767 0.41713 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9906 158801 14 50750577 A G 169066 Likely_benign not_specified 0.49962 0.53959 0.50479 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9907 158798 14 50769717 G A 169068 Benign/Likely_benign not_specified|not_provided 0.57427 0.5701 0.59665 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9908 158799 14 50778816 A C 169070 Benign/Likely_benign not_specified|not_provided 0.56319 0.59991 0.57268 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9909 678056 14 51000140 A T 666568 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9910 678057 14 51000145 G A 667341 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9911 21530 14 51057727 G A 34382 Benign Spastic_paraplegia_3|not_specified|Spastic_par... 0.79586 0.76327 0.82149 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9912 678058 14 51060452 A G 667345 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9913 670498 14 51062162 G A 667348 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9914 670499 14 51062455 G A 667481 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9915 678059 14 51081449 C T 666571 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9916 668735 14 51081515 C T 666574 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9917 670500 14 51087263 A G 667665 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9918 678069 14 51087689 G A 667486 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9919 678070 14 51089727 G T 666578 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9920 678071 14 51090102 C CAT 667670 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9921 678072 14 51090115 T G 667349 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9922 670501 14 51096610 G GTTCTT 667356 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9923 129797 14 51204996 C T 135243 Likely_benign not_specified 0.57789 0.50442 0.50879 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9924 129796 14 51206021 A G 135242 Likely_benign not_specified 0.99131 0.99757 0.99261 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9925 194884 14 51223789 C T 192046 Benign Seckel_syndrome_7|not_specified 0.79225 0.74536 0.76438 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9926 281107 14 51224374 T G 265344 Benign Seckel_syndrome_7|not_specified 0.80763 0.75326 0.78494 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9927 129787 14 51224417 G C 135233 Likely_benign not_specified 0.20091 0.22719 0.1863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9928 129784 14 51225097 T C 135230 Likely_benign not_specified 0.01499 0.01605 0.00899 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9929 129779 14 51237701 A G 135225 Likely_benign not_specified 0.50331 0.62067 0.57728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9930 129803 14 51239067 C G 135249 Likely_benign not_specified 0.9907 . 0.99241 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9931 258828 14 51372098 CA C 254969 Benign Glycogen_storage_disease,_type_VI|not_specifie... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9932 258829 14 51372103 C G 254970 Benign Glycogen_storage_disease,_type_VI|not_specifie... 0.15009 0.23569 0.251 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9933 258838 14 51375699 T TA 254975 Likely_benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9934 194627 14 51378590 CT C 191790 Benign Glycogen_storage_disease,_type_VI|not_specifie... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9935 258830 14 51383432 G A 254983 Benign Glycogen_storage_disease,_type_VI|not_specifie... 0.13817 0.22529 0.23542 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9936 668115 14 53521648 G A 667674 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9937 679273 14 53522806 A G 667358 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9938 379963 14 53529669 A T 374264 Benign not_specified 0.76834 . 0.81769 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9939 679272 14 53540249 A G 666585 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9940 379962 14 53619463 G A 376096 Benign not_specified . 0.84551 0.7522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9941 221131 14 53619480 T TGCCGCC 222375 Benign not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9942 379960 14 53619544 G A 374268 Benign not_specified 0.70383 . 0.7504 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9943 197190 14 54417522 A G 194351 Benign/Likely_benign Microphthalmia_syndromic_6|Orofacial_cleft|not... 0.45002 0.45702 0.32568 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9944 430718 14 55222475 T C 424257 association Lip_and_oral_cavity_carcinoma . . 0.40296 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9945 313367 14 55309505 G A 320709 Benign GTP_cyclohydrolase_I_deficiency|Dystonia,_dopa... . . 0.03375 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9946 313378 14 55310003 T C 336167 Benign GTP_cyclohydrolase_I_deficiency|Dystonia,_dopa... . . 0.07408 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9947 313404 14 55369502 A G 336185 Benign GTP_cyclohydrolase_I_deficiency|Dystonia,_dopa... . . 0.94569 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9948 803031 14 58937416 T C 791416 Benign Joubert_syndrome_23 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9949 313426 14 60975956 T C 329589 Benign Anophthalmia_-_microphthalmia . . 0.82488 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9950 260163 14 60976537 C A 254993 Benign Cataract,_microphthalmia_and_nystagmus|not_spe... 0.43564 0.51526 0.34145 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9951 313436 14 60978071 C G 329623 Benign Anophthalmia_-_microphthalmia . . 0.80332 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9952 313450 14 61112234 TA T 338147 Benign Branchiootorenal_Spectrum_Disorders|Nonsyndrom... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9953 313459 14 61112667 G C 338171 Benign Branchiootorenal_Spectrum_Disorders|Nonsyndrom... . . 0.77117 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9954 130501 14 64491695 T C 135947 Benign Emery-Dreifuss_muscular_dystrophy|not_specifie... 0.74061 0.81178 0.67891 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9955 130503 14 64494278 C T 135949 Benign Emery-Dreifuss_muscular_dystrophy|not_specified 0.8124 . 0.752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9956 130504 14 64496749 C T 135950 Benign Emery-Dreifuss_muscular_dystrophy|not_specified 0.74105 0.81219 0.67193 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9957 130508 14 64497930 G A 135954 Benign Emery-Dreifuss_muscular_dystrophy|not_specified 0.76882 0.82093 0.70248 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9958 130511 14 64498037 G A 135957 Benign Emery-Dreifuss_muscular_dystrophy|not_specified 0.87807 0.89238 0.83726 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9959 130513 14 64519035 A G 135959 Benign Emery-Dreifuss_muscular_dystrophy|Emery-Dreifu... 0.91241 0.90676 0.86182 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9960 130516 14 64519455 A G 135962 Benign Emery-Dreifuss_muscular_dystrophy|not_specified 0.72288 . 0.66514 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9961 130520 14 64522674 G C 135966 Benign Emery-Dreifuss_muscular_dystrophy|not_specifie... 0.73999 0.80763 0.68131 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9962 130521 14 64522843 A G 135967 Benign Emery-Dreifuss_muscular_dystrophy|not_specified 0.74131 . 0.68231 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9963 130488 14 64656855 T C 135934 Benign Emery-Dreifuss_muscular_dystrophy|Emery-Dreifu... 0.49185 0.3943 0.48702 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9964 130489 14 64681193 C T 135935 Benign Emery-Dreifuss_muscular_dystrophy|Emery-Dreifu... 0.50846 0.47016 0.58327 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9965 130490 14 64686125 G T 135936 Benign Emery-Dreifuss_muscular_dystrophy|not_specified 0.26065 0.24095 0.20967 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9966 281196 14 64688175 G C 265433 Benign not_specified|not_provided . . 0.6883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9967 313681 14 64692630 G C 320910 Benign Emery-Dreifuss_muscular_dystrophy . . 0.6895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9968 313684 14 64692825 G A 329957 Benign Emery-Dreifuss_muscular_dystrophy . . 0.6909 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9969 403114 14 64882380 A G 390190 Benign not_specified 0.83154 0.83308 0.82348 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9970 13633 14 64908845 G A 28672 Benign Neural_tube_defects,_folate-sensitive,_suscept... . 0.4354 0.34185 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9971 257120 14 65245863 C G 255009 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.36245 . 0.41054 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9972 257119 14 65245956 C T 255010 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.36376 0.28092 0.41154 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9973 257118 14 65245962 A G 255011 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.36191 0.28136 0.41194 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9974 257117 14 65246623 T C 255012 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.42357 0.34944 0.44509 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9975 257115 14 65249052 C G 255014 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.06189 . 0.10164 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9976 257108 14 65253232 T C 255019 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.40443 0.33811 0.46945 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9977 257102 14 65260227 T G 255024 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.46002 0.39165 0.45028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9978 257098 14 65263300 C T 255027 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.43634 0.38036 0.46685 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9979 257097 14 65263347 C T 255028 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.25258 0.26385 0.28135 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9980 257138 14 65267469 T C 255029 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.38006 0.32605 0.3734 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9981 257106 14 65271650 A G 255034 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.42765 0.36932 0.46605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9982 257099 14 65271780 G A 255035 Benign/Likely_benign Elliptocytosis|not_specified|Spherocytosis,_Do... 0.04375 0.05344 0.06809 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9983 313793 14 65542067 C G 330076 Benign Pheochromocytoma . . 0.51338 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9984 313801 14 65542607 C T 338566 Benign Pheochromocytoma . . 0.54593 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9985 313802 14 65542629 C T 338569 Benign Pheochromocytoma . . 0.51478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9986 313807 14 65542790 G A 320994 Benign Pheochromocytoma . . 0.51178 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9987 676931 14 65544450 C T 667677 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9988 402887 14 66028446 A G 390197 Benign not_specified|not_provided 0.69948 0.70457 0.75679 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9989 261355 14 67147816 T C 255036 Benign not_specified 0.31413 0.26611 0.45028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9990 313851 14 68213571 C T 330125 Benign Spastic_Paraplegia,_Recessive . . 0.95008 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9991 313852 14 68213744 G A 321033 Benign Spastic_Paraplegia,_Recessive . . 0.95008 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9992 313853 14 68213792 A G 336646 Benign Spastic_Paraplegia,_Recessive . . 0.3135 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9993 313866 14 68214788 T C 338611 Benign Spastic_Paraplegia,_Recessive . . 0.49401 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9994 130783 14 68234539 T C 136229 Benign not_specified|Spastic_Paraplegia,_Recessive|no... 0.94172 0.95458 0.90316 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9995 669987 14 68234845 T C 667498 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9996 670343 14 68236522 G A 667369 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9997 667592 14 68238499 T G 667370 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
9998 669979 14 68243075 C A 666593 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
9999 313905 14 68250112 G A 338688 Benign/Likely_benign not_specified|Spastic_Paraplegia,_Recessive|no... 0.03629 0.01389 0.02716 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10000 669978 14 68250514 A C 667503 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10001 695138 14 68264867 A G 684516 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10002 678188 14 68270680 G C 666604 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10003 669974 14 68273812 T C 667511 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10004 257188 14 70418881 G A 255038 Benign not_specified 0.18722 0.2497 0.21705 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10005 257189 14 70477508 C T 255039 Benign not_specified 0.13678 0.20125 0.20567 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10006 257190 14 70478183 C A 255040 Benign not_specified 0.01015 0.20068 0.20567 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10007 254714 14 73664853 G T 255043 Benign not_specified 0.61933 0.62799 0.67153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10008 313956 14 73686361 T C 338754 Likely_benign Early-Onset_Familial_Alzheimer_Disease|Dilated... . . 0.02117 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10009 313960 14 73686944 G A 330249 Likely_benign Early-Onset_Familial_Alzheimer_Disease|Dilated... . . 0.14597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10010 313962 14 73687144 C T 336732 Likely_benign Early-Onset_Familial_Alzheimer_Disease|Dilated... . . 0.67033 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10011 684519 14 74041748 A G 672091 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10012 314060 14 74165101 A T 321179 Benign Primary_ciliary_dyskinesia . . 0.86661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10013 314069 14 74165516 A G 321192 Benign Primary_ciliary_dyskinesia . . 0.86661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10014 314082 14 74166590 A C 321202 Likely_benign Primary_ciliary_dyskinesia . . 0.03654 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10015 314084 14 74166821 G A 321205 Likely_benign Primary_ciliary_dyskinesia . . 0.28275 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10016 314091 14 74167061 GA G 321210 Benign Primary_ciliary_dyskinesia . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10017 314095 14 74167371 C T 321215 Likely_benign Primary_ciliary_dyskinesia . . 0.09225 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10018 314110 14 74168625 G A 321229 Benign Primary_ciliary_dyskinesia . . 0.86621 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10019 314142 14 74169649 C CA 321236 Uncertain_significance Primary_ciliary_dyskinesia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10020 314149 14 74169995 C T 321248 Benign Primary_ciliary_dyskinesia . . 0.86661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10021 314153 14 74170321 G A 338910 Likely_benign Primary_ciliary_dyskinesia . . 0.29553 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10022 683565 14 74419825 G A 667526 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10023 669472 14 74422843 T C 667703 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10024 683566 14 74422923 T C 667704 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10025 128835 14 74424938 T C 134283 Benign not_specified|not_provided 0.30301 0.32813 0.1849 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10026 136982 14 74428286 A G 140685 Benign not_specified 0.83415 . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10027 128834 14 74428445 G A 134282 Benign not_specified|not_provided 0.38452 0.43463 0.34545 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10028 314161 14 74526942 A G 321265 Benign Methylmalonate_semialdehyde_dehydrogenase_defi... . . 0.32248 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10029 314165 14 74527190 A G 338925 Benign Methylmalonate_semialdehyde_dehydrogenase_defi... . . 0.24161 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10030 314166 14 74527203 G A 321269 Benign Methylmalonate_semialdehyde_dehydrogenase_defi... . . 0.99301 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10031 314178 14 74537885 T G 338938 Benign Methylmalonate_semialdehyde_dehydrogenase_defi... 0.3932 0.4111 0.53674 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10032 167840 14 74711883 C T 178152 Benign Microphthalmia,_isolated_6|not_specified|VSX2-... 0.38836 0.42166 0.25998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10033 259619 14 74759006 C T 255050 Benign not_specified 0.30724 0.32759 0.27037 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10034 259622 14 74759301 G T 255051 Benign not_specified 0.29925 0.32435 0.26298 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10035 259621 14 74759477 C T 255052 Benign not_specified 0.30747 0.32852 0.27037 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10036 259620 14 74766352 A G 255053 Benign METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cbl... 0.29902 . 0.26258 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10037 314254 14 74966763 G A 337136 Likely_benign Primary_congenital_glaucoma|Weill-Marchesani_s... . . 0.29992 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10038 770997 14 75230654 T A 702989 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10039 314328 14 75469634 A G 330581 Uncertain_significance Leukoencephalopathy_with_vanishing_white_matter . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10040 260365 14 75470446 C A 255061 Benign not_specified 0.98447 0.99563 0.98602 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10041 314342 14 75476071 G C 339147 Benign/Likely_benign Lynch_syndrome|Leukoencephalopathy_with_vanish... . . 0.51757 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10042 314345 14 75480637 T C 337219 Benign/Likely_benign Lynch_syndrome|Leukoencephalopathy_with_vanish... . . 0.36522 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10043 314351 14 75481368 C T 339162 Likely_benign Lynch_syndrome . . 0.34525 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10044 314356 14 75481908 A G 337227 Likely_benign Lynch_syndrome . . 0.33566 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10045 314361 14 75482443 AG A 330620 Likely_benign Lynch_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10046 314364 14 75482827 CG AT 321382 Uncertain_significance Lynch_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10047 257253 14 75483812 T C 255063 Benign/Likely_benign Lynch_syndrome|not_specified 0.50192 0.56344 0.58007 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10048 257252 14 75513828 G A 255064 Benign/Likely_benign Lynch_syndrome|not_specified 0.44264 0.41264 0.36382 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10049 257251 14 75513883 T C 255065 Benign/Likely_benign Lynch_syndrome|not_specified 0.98877 0.9968 0.99042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10050 314404 14 76045193 GTC G 339228 Benign Proliferative_vasculopathy_and_hydranencephaly... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10051 95817 14 76045691 C T 101714 Benign/Likely_benign Proliferative_vasculopathy_and_hydranencephaly... 0.17523 0.16758 0.17931 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10052 677189 14 76156609 C T 656263 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10053 677190 14 76201482 G T 667379 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10054 677191 14 76232398 T C 666618 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10055 683994 14 76429369 C A 667710 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10056 683992 14 76431674 T C 667392 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10057 314470 14 76543004 G A 337337 Benign Cranioectodermal_dysplasia 0.2495 0.26074 0.16893 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10058 45002 14 76957887 T C 54169 Benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.99631 0.99862 0.99281 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10059 314496 14 76967707 T C 337357 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.39996 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10060 314507 14 77741394 T C 321465 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.29133 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10061 314519 14 77741971 G T 339428 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.10943 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10062 314520 14 77741977 C T 321479 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.85224 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10063 314525 14 77742203 T C 337398 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.14836 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10064 314526 14 77742218 C T 339435 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.85583 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10065 314531 14 77742582 C T 321492 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.51158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10066 314536 14 77742929 C T 337416 Benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.51098 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10067 314545 14 77743132 C T 330773 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.14437 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10068 314552 14 77743644 G A 339471 Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive . . 0.26857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10069 166901 14 77745193 A C 177616 Benign not_specified 0.81947 0.81764 0.84705 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10070 668039 14 77745376 G A 667724 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10071 260297 14 77746310 G A 255069 Benign/Likely_benign not_specified|not_provided 0.12179 . 0.17851 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10072 671546 14 77749874 G A 666659 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10073 670967 14 77750057 T G 667746 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10074 674164 14 77751238 G A 666664 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10075 673022 14 77751688 A G 667749 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10076 668036 14 77751729 T C 667760 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10077 166906 14 77751925 C T 177620 Benign not_specified 0.828 0.82082 0.85823 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10078 260290 14 77755221 T G 255076 Benign not_specified|not_provided 0.52161 . 0.47644 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10079 95533 14 77757743 G A 101432 Benign not_specified . 0.07969 0.11042 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10080 683960 14 77762872 C T 667544 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10081 683955 14 77764771 G A 667766 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10082 673021 14 77764820 T C 666670 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10083 668016 14 77767382 A G 666673 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10084 673020 14 77778485 T C 667779 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10085 95536 14 77786863 C A 101435 Benign/Likely_benign not_specified|Limb-Girdle_Muscular_Dystrophy,_... 0.04199 0.12305 0.08307 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10086 314565 14 77787148 C T 321504 Benign/Likely_benign Limb-Girdle_Muscular_Dystrophy,_Recessive|not_... . . 0.05212 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10087 194886 14 77896048 C T 192048 Benign not_specified|not_provided 0.00577 0.00634 0.00319 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10088 314584 14 77973953 G GCA 330820 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.85124 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10089 314585 14 77973982 T C 321535 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.94509 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10090 314589 14 77974181 C A 330822 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.59625 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10091 314603 14 77974990 C T 330839 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.76897 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10092 314604 14 77975015 A T 321542 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.94748 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10093 314606 14 77975103 T G 337479 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.77616 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10094 314628 14 77976325 T C 330855 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... . . 0.76058 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10095 670140 14 77984573 C T 667550 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10096 670586 14 77987958 C A 667792 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10097 670138 14 78018246 T C 667429 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10098 670570 14 78018614 C T 666680 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10099 670569 14 78023519 C G 667440 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10100 670137 14 78023714 A G 667563 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10101 314672 14 78028803 A G 330884 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.83385 0.90294 0.83746 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10102 670136 14 78029082 C T 667565 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10103 667523 14 78036394 G A 667568 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10104 670568 14 78036899 AG A 667802 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10105 670567 14 78036935 A G 667443 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10106 314681 14 78082952 C A 337525 Benign Hereditary_sensory_and_autonomic_neuropathy_ty... 0.01665 . 0.02776 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10107 667522 14 78083349 C T 667808 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10108 674092 14 78709814 T C 667570 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10109 255954 14 81574687 T TTCTC 255094 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10110 135403 14 81575005 C A 139142 not_provided not_specified 0.64247 . 0.61022 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10111 135400 14 81610583 G C 139139 Benign/Likely_benign Congenital_hypothyroidism|Hyperthyroidism,_non... 0.92334 0.90038 0.89677 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10112 314705 14 81610942 C T 339647 Likely_benign Congenital_hypothyroidism|Hyperthyroidism,_non... . . 0.84325 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10113 314708 14 81611128 T C 339648 Likely_benign Congenital_hypothyroidism|Hyperthyroidism,_non... . . 0.28435 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10114 314711 14 81611606 C T 337591 Likely_benign Congenital_hypothyroidism|Hyperthyroidism,_non... . . 0.15575 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10115 314716 14 81611919 G C 330908 Likely_benign Congenital_hypothyroidism|Hyperthyroidism,_non... . . 0.29313 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10116 314719 14 81612114 T C 339661 Likely_benign Congenital_hypothyroidism|Hyperthyroidism,_non... . . 0.29353 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10117 314727 14 88399488 A C 339667 Benign Galactosylceramide_beta-galactosidase_deficiency . . 0.48862 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10118 314729 14 88399623 T C 337616 Benign Galactosylceramide_beta-galactosidase_deficiency . . 0.44788 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10119 314731 14 88399801 C T 337617 Benign Galactosylceramide_beta-galactosidase_deficiency . . 0.48882 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10120 314732 14 88399887 TATC T 330918 Benign Galactosylceramide_beta-galactosidase_deficiency . . 0.49341 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10121 314734 14 88400087 C T 339676 Benign Galactosylceramide_beta-galactosidase_deficiency . . 0.9409 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10122 314736 14 88400353 C T 339677 Benign Galactosylceramide_beta-galactosidase_deficiency . 0.43628 0.44748 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10123 314741 14 88400486 A G 339688 Benign Galactosylceramide_beta-galactosidase_deficiency . . 0.49341 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10124 92500 14 88401213 T C 98409 Benign Galactosylceramide_beta-galactosidase_deficien... 0.95948 . 0.9407 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10125 680310 14 88401392 G A 666692 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10126 680307 14 88406120 C T 667457 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10127 680306 14 88406127 G C 666693 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10128 445792 14 88407716 T TA 439064 Likely_benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10129 92499 14 88407734 G C 98408 Benign Galactosylceramide_beta-galactosidase_deficien... 0.95964 0.98303 0.9409 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10130 92498 14 88407875 T A 98407 Benign Galactosylceramide_beta-galactosidase_deficien... 0.96025 . 0.9409 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10131 92497 14 88407888 A G 98406 Benign,_other Galactosylceramide_beta-galactosidase_deficien... 0.52239 0.4406 0.44748 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10132 92496 14 88407917 G A 98405 Benign Galactosylceramide_beta-galactosidase_deficien... 0.43122 0.54129 0.48882 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10133 682663 14 88408221 T C 666696 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10134 680304 14 88411693 A G 667463 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10135 680303 14 88411803 T C 666699 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10136 167118 14 88411947 T C 177737 Benign not_specified 0.96084 0.98319 0.94269 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10137 680302 14 88412310 G A 667583 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10138 92494 14 88414211 G A 98403 Benign Galactosylceramide_beta-galactosidase_deficien... 0.40831 0.37337 0.36661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10139 680300 14 88416390 A G 666701 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10140 680299 14 88416441 C T 667585 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10141 92493 14 88417095 GA G 98402 Conflicting_interpretations_of_pathogenicity Abnormality_of_brain_morphology|Galactosylcera... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10142 680298 14 88417244 C T 667590 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10143 680296 14 88417289 A G 667593 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10144 682662 14 88434409 A T 667475 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10145 801397 14 88852279 TG T 789778 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10146 286866 14 88862529 G A 271103 Benign/Likely_benign Leber_congenital_amaurosis|not_specified|Retin... 0.41095 0.34728 0.40755 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10147 130765 14 89042180 T G 136211 Likely_benign not_specified 0.5925 0.61878 0.48582 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10148 262516 14 89307320 T C 255109 Benign not_specified 0.19829 0.21153 0.1887 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10149 314807 14 89343992 G A 337713 Benign Bardet-Biedl_syndrome|Retinitis_Pigmentosa,_Re... . . 0.19988 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10150 674613 14 90863489 G A 656269 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10151 683300 14 90863870 C T 667831 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10152 674614 14 90866346 C T 667624 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10153 668719 14 90869913 C T 667628 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10154 158118 14 91739081 A G 167971 Benign not_specified 0.92273 0.85241 0.80591 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10155 158110 14 91763637 C T 167963 Benign not_specified 0.58635 0.53036 0.49401 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10156 713623 14 91766410 C T 725855 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10157 158099 14 91773494 G A 167951 Benign not_specified 0.12268 0.15955 0.16633 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10158 158098 14 91773568 T C 167950 Benign not_specified 0.5794 0.53357 0.48043 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10159 158120 14 91883967 G T 167973 Benign not_specified 0.35478 . 0.36322 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10160 683869 14 92336989 C T 667834 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10161 683518 14 92344300 A G 667632 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10162 683516 14 92347345 C A 666726 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10163 163450 14 92347680 A G 176093 Benign Macular_degeneration|not_specified|Cutis_Laxa,... 0.75681 0.7609 0.78494 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10164 683515 14 92348975 A G 666729 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10165 672116 14 92499348 T G 667644 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10166 667761 14 92505600 C A 667904 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10167 128510 14 92549586 G A 133959 Likely_benign not_specified 0.5416 0.50276 0.56669 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10168 1420 14 92773663 G T 16459 association Skin/hair/eye_pigmentation,_variation_in,_6 . . 0.26078 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10169 586377 14 94187832 C T 577377 Benign not_provided 0.58258 0.60317 0.4988 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10170 586376 14 94245649 A G 577378 Benign not_provided 0.72896 0.69198 0.58566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10171 586378 14 94245652 C T 577380 Benign not_provided 0.45092 . 0.36302 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10172 315004 14 94843565 T C 321840 Benign Alpha-1-antitrypsin_deficiency . . 0.66254 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10173 315008 14 94843818 A G 331149 Likely_benign Alpha-1-antitrypsin_deficiency . . 0.69629 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10174 315009 14 94843932 A G 321853 Likely_benign Alpha-1-antitrypsin_deficiency . . 0.46506 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10175 315015 14 94844305 C T 331152 Likely_benign Alpha-1-antitrypsin_deficiency . . 0.27197 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10176 315018 14 94844470 C A 337963 Likely_benign Alpha-1-antitrypsin_deficiency . . 0.2512 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10177 17955 14 94847415 A G 32994 Benign/Likely_benign PI_M1-ALA213|PI,_M1A|Alpha-1-antitrypsin_defic... . 0.22145 0.2494 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10178 18051 14 95080803 G A 33090 Benign ANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM|n... 0.4022 0.44802 0.39936 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10179 315063 14 95554142 T C 331201 Benign Pleuropulmonary_blastoma|not_provided . . 0.17232 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10180 315075 14 95555205 C T 321892 Benign Pleuropulmonary_blastoma . . 0.99002 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10181 315096 14 95556508 CA C 331225 Uncertain_significance Pleuropulmonary_blastoma . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10182 315098 14 95556747 A T 321919 Benign Pleuropulmonary_blastoma|DICER1-related_pleuro... . . 0.90895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10183 516580 14 95581899 G A 505595 Benign DICER1-related_pleuropulmonary_blastoma_cancer... . . 0.16574 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10184 676815 14 95582544 A C 667564 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10185 676814 14 95595654 T C 667909 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10186 379974 14 96010424 G A 373305 Benign not_specified 0.11656 0.11975 0.08307 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10187 402361 14 96916228 C T 390143 Benign not_specified 0.33033 0.40514 0.3151 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10188 402363 14 96922752 C G 390149 Benign not_specified 0.8706 0.83842 0.88459 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10189 675686 14 97299591 G A 667649 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10190 130731 14 97299853 A G 136177 Benign Pontocerebellar_hypoplasia_type_1A|Pontoneocer... 0.3309 0.35647 0.28954 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10191 680838 14 97303816 C T 666770 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10192 670271 14 97303879 A G 666774 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10193 670272 14 97303954 A G 667566 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10194 680843 14 97304453 T C 667569 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10195 670273 14 97312188 T C 667650 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10196 670274 14 97312642 G A 667923 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10197 672717 14 97313402 G T 667925 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10198 672718 14 97323086 A T 667656 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10199 680844 14 97323184 G T 667931 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10200 680841 14 97323229 C T 667933 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10201 675687 14 97342500 C G 666781 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10202 668120 14 102492656 A G 667499 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10203 679356 14 102506308 A G 667276 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10204 681359 14 102507065 G C 666418 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10205 668900 14 102509953 G C 667286 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10206 674056 14 102510874 G A 667189 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10207 128929 14 102514227 T C 134376 Benign/Likely_benign Charcot-Marie-Tooth_disease,_type_2|History_of... 0.30363 0.22921 0.34724 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10208 679361 14 102514713 G A 666440 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10209 128932 14 102515015 G A 134379 Benign/Likely_benign Charcot-Marie-Tooth_disease,_type_2|not_specif... 0.29533 0.23108 0.3145 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10210 679362 14 102515171 A G 667301 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10211 312672 14 102517132 C T 335355 Likely_benign Charcot-Marie-Tooth_disease,_type_2|Spinocereb... . . 0.02796 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10212 670710 14 102875200 A G 666461 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10213 670231 14 102881323 T G 667506 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10214 380890 14 102891646 A G 373680 Benign not_specified 0.36968 0.3627 0.30551 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10215 380873 14 102894593 G A 375852 Benign not_specified 0.96561 0.88334 0.86042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10216 672257 14 102897922 G A 667321 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10217 670741 14 102900336 C T 666468 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10218 670742 14 102900407 G A 667328 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10219 380901 14 102901023 G A 374019 Benign not_specified 0.13701 0.08604 0.10324 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10220 380891 14 102901201 A G 372957 Benign not_specified 0.27418 0.28296 0.21486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10221 516666 14 102904551 CCCCGCTCCCTGCT C 504407 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10222 667549 14 102910423 A G 667241 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10223 670743 14 102911913 T C 667513 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10224 240924 14 102912150 C A 241780 Benign Spastic_paraplegia_49,_autosomal_recessive|not... 0.01645 0.0183 0.00719 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10225 670744 14 102919047 C T 667339 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10226 672260 14 102964359 C CGCCCAAGCTCCCAGCTCCATCTGT 667346 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10227 379942 14 104029378 C G 375870 Benign not_specified|not_provided 0.26937 . 0.23463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10228 8944 14 104165753 G A 23983 risk_factor Cutaneous_malignant_melanoma_6 . 0.30751 0.21685 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10229 261603 14 105167807 C T 254882 Benign Focal_segmental_glomerulosclerosis|Focal_segme... 0.98227 0.97825 0.98662 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10230 683640 14 105168414 C T 667250 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10231 683641 14 105176781 G A 667262 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10232 261606 14 105177351 CA C 254892 Benign Focal_segmental_glomerulosclerosis|Focal_segme... 0.57171 0.61098 0.69489 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10233 681920 14 105178089 T C 666487 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10234 681940 14 105178098 G C 666493 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10235 681943 14 105178153 C T 667557 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10236 683642 14 105178478 T C 667363 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10237 681944 14 105179043 G C 667364 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10238 681946 14 105179081 G A 667558 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10239 261611 14 105179194 T C 254897 Benign Focal_segmental_glomerulosclerosis|not_specifi... 0.8803 0.86083 0.90935 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10240 681950 14 105180484 C T 667266 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10241 261613 14 105180565 T C 254899 Benign Focal_segmental_glomerulosclerosis|not_specifi... 0.79753 0.80602 0.84425 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10242 261617 14 105180706 A C 254903 Benign Focal_segmental_glomerulosclerosis|Focal_segme... . . 0.69489 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10243 681951 14 105181848 A G 667567 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10244 681953 14 105181851 C T 667268 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10245 312721 14 105185666 G T 337289 Benign Focal_segmental_glomerulosclerosis . . 0.54812 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10246 769403 14 105196230 A C 702775 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10247 498670 14 105239894 C T 490094 Benign Cowden_syndrome_6|not_specified 0.20163 0.31413 0.32248 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10248 695299 14 105246325 T A 685395 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10249 803053 14 105268228 G A 791385 Benign Lethal_congenital_contracture_syndrome_6 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10250 402348 14 105412009 A G 390106 Benign not_specified . 0.45473 0.38518 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10251 402906 15 20739825 G A 390122 Benign not_specified . 0.08959 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10252 315341 15 23043896 G A 322078 Benign Spastic_paraplegia,_autosomal_dominant . . 0.55571 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10253 315356 15 23045127 G A 340084 Benign Spastic_paraplegia,_autosomal_dominant . . 0.07688 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10254 315375 15 23046314 C G 331344 Benign Spastic_paraplegia,_autosomal_dominant . . 0.44788 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10255 315387 15 23046770 T TAA 322041 Benign Spastic_paraplegia,_autosomal_dominant . . 0.72145 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10256 315389 15 23046848 T C 322040 Benign Spastic_paraplegia,_autosomal_dominant . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10257 315390 15 23046855 G T 331337 Benign Spastic_paraplegia,_autosomal_dominant . . 0.96386 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10258 315399 15 23047266 G A 338174 Benign Spastic_paraplegia,_autosomal_dominant . . 0.11022 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10259 315405 15 23047702 G C 338164 Benign Spastic_paraplegia,_autosomal_dominant . . 0.41014 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10260 315410 15 23047857 G A 338158 Benign Spastic_paraplegia,_autosomal_dominant . . 0.6879 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10261 315416 15 23048392 TAC T 338138 Benign Spastic_paraplegia,_autosomal_dominant . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10262 129804 15 23052632 T C 135250 Benign Spastic_paraplegia_6|not_specified|Spastic_par... 0.6537 0.73589 0.70407 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10263 667673 15 23060625 G C 667672 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10264 679847 15 23086770 G C 666784 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10265 315447 15 25219512 T C 331389 Likely_benign Autism_spectrum_disorder 0.50964 . 0.52177 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10266 256818 15 26806064 T C 255127 Benign not_specified 0.34261 0.34562 0.47364 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10267 668799 15 26806659 G A 667588 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10268 668798 15 26813137 C T 667971 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10269 682657 15 26825179 A G 667591 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10270 680281 15 26874395 T C 667689 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10271 668792 15 27017253 G T 667981 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10272 256819 15 27017536 G A 255131 Benign not_specified 0.10174 0.22209 0.1869 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10273 377904 15 27018797 G A 376374 Benign Seizures|not_specified|not_provided 0.11513 0.29825 0.19808 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10274 255730 15 28090173 C T 255132 Benign Oculocutaneous_albinism|not_specified 0.17469 0.26215 0.28275 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10275 195643 15 28096538 A G 192804 Benign Oculocutaneous_albinism|not_specified 0.49646 0.44926 0.5024 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10276 255722 15 28211921 G A 255140 Benign Oculocutaneous_albinism|not_specified 0.56705 0.56384 0.36402 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10277 255720 15 28228644 G A 255141 Benign Oculocutaneous_albinism|not_specified 0.53152 0.54602 0.32129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10278 193986 15 28231793 T C 191149 Benign Oculocutaneous_albinism|not_specified 0.70913 0.77933 0.69329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10279 255716 15 28235773 C T 255145 Benign Oculocutaneous_albinism|not_specified 0.59888 0.63672 0.41074 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10280 4745 15 28365618 A G 19784 association Skin/hair/eye_pigmentation,_variation_in,_1 . . 0.17732 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10281 4744 15 28513364 T C 19783 Affects Skin/hair/eye_pigmentation,_variation_in,_1 . . 0.38858 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10282 4743 15 28530182 C T 19782 association Skin/hair/eye_pigmentation,_variation_in,_1 . . 0.37959 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10283 260492 15 31197564 G A 255152 Benign not_specified 0.31952 0.45941 0.42252 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10284 260491 15 31229420 T C 255153 Benign not_specified 0.3482 0.4755 0.45707 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10285 315511 15 31330280 A G 322164 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.77362 0.81039 0.75939 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10286 193856 15 31342744 C T 191019 Benign not_specified|Congenital_Stationary_Night_Blin... 0.43899 0.54193 0.51917 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10287 196343 15 31362352 C T 193504 Benign not_specified|Congenital_Stationary_Night_Blin... 0.79264 0.79905 0.79094 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10288 315540 15 31369123 A G 331492 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.82953 0.84465 0.89437 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10289 782885 15 32455479 A G 714380 Likely_benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10290 284763 15 33191023 A G 269000 Benign not_specified 0.66567 0.57954 0.65775 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10291 461837 15 33855175 C T 464817 Benign not_provided 0.0273 0.00987 0.02756 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10292 461892 15 33916152 T A 463991 Benign Epileptic_encephalopathy 0.05392 0.01627 0.05531 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10293 315547 15 34522557 G A 322184 Likely_benign Andermann_syndrome . . 0.17692 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10294 315555 15 34522935 GAGAC G 331510 Likely_benign Andermann_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10295 315556 15 34522985 C G 322193 Benign Andermann_syndrome . . 0.96705 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10296 315561 15 34523278 G A 331514 Likely_benign Andermann_syndrome . . 0.17712 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10297 315565 15 34523445 T C 338420 Likely_benign Andermann_syndrome . . 0.21526 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10298 315567 15 34523563 C CG 340191 Likely_benign Andermann_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10299 315581 15 34524117 ATT A 338444 Likely_benign Andermann_syndrome . . 0.17692 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10300 315582 15 34524236 G C 340194 Likely_benign Andermann_syndrome . . 0.17352 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10301 315587 15 34524590 A G 340206 Benign Andermann_syndrome . . 0.94569 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10302 315595 15 34524995 G T 331534 Benign Andermann_syndrome . . 0.78954 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10303 669887 15 34527085 C A 666814 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10304 670100 15 34527713 G A 667989 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10305 670098 15 34528588 G T 667604 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10306 159893 15 34529776 A G 169111 Likely_benign not_specified 0.14741 0.18898 0.20707 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10307 669882 15 34534723 A G 667617 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10308 670094 15 34536090 C T 667620 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10309 159891 15 34536143 G T 169112 Likely_benign not_specified 0.02862 . 0.02177 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10310 670566 15 34537435 C T 667626 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10311 670093 15 34542730 T C 667990 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10312 670092 15 34542739 G C 666818 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10313 139121 15 34542872 C G 142824 Benign/Likely_benign Andermann_syndrome|not_specified 0.15602 . 0.20727 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10314 673452 15 34543298 G GA 666820 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10315 139120 15 34544351 C A 142823 Benign not_specified 0.155 0.23126 0.20687 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10316 139119 15 34544468 C T 142822 Benign/Likely_benign Andermann_syndrome|not_specified 0.1551 . 0.20687 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10317 669867 15 34544852 A T 667633 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10318 668755 15 34546259 A G 666821 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10319 670089 15 34546434 T C 667698 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10320 670088 15 34546451 G C 667700 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10321 670564 15 34550009 T TA 667645 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10322 670086 15 34550118 C T 666825 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10323 670085 15 34550206 C CAAAG 667995 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10324 159898 15 34551082 G A 169119 Benign Andermann_syndrome|not_specified 0.23411 0.25109 0.27676 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10325 667460 15 34628322 T C 666835 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10326 159892 15 34628570 C G 169121 Likely_benign not_specified 0.47239 . 0.48762 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10327 315628 15 34629024 C T 340236 Benign/Likely_benign Andermann_syndrome|Dyskeratosis_Congenita,_Rec... . . 0.21066 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10328 670084 15 34629096 T A 666843 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10329 679868 15 34629167 G A 666846 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10330 315631 15 34634033 A G 340242 Benign/Likely_benign Andermann_syndrome|Dyskeratosis_Congenita,_Rec... . . 0.21006 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10331 315633 15 34634124 C G 338504 Benign Dyskeratosis_Congenita,_Recessive 0.15787 0.1782 0.21006 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10332 261036 15 34634324 C G 255154 Benign not_specified|Dyskeratosis_Congenita,_Recessive 0.45992 0.36811 0.45288 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10333 315653 15 35080931 T C 338520 Likely_benign Atrial_septal_defect|Hypertrophic_cardiomyopat... . . 0.45367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10334 315668 15 35081574 C T 338564 Likely_benign Atrial_septal_defect|Hypertrophic_cardiomyopat... . . 0.65595 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10335 315672 15 35081694 CT C 338581 Likely_benign Atrial_septal_defect|Hypertrophic_cardiomyopat... . . 0.14537 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10336 315694 15 35082225 C T 338595 Likely_benign Atrial_septal_defect|Hypertrophic_cardiomyopat... . . 0.27855 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10337 677956 15 35085201 C T 667714 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10338 257531 15 36937405 G T 255156 Benign not_specified 0.95394 0.95545 0.95807 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10339 257532 15 36946303 C G 255157 Benign not_specified 0.43983 0.53516 0.49701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10340 561829 15 38545725 A C 552838 Benign not_provided . . 0.84205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10341 561830 15 38591300 A G 552839 Benign not_provided . . 0.80232 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10342 41371 15 38614525 G A 49795 Benign/Likely_benign Legius_syndrome|not_specified|not_provided 0.82584 0.86375 0.80012 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10343 561883 15 38614883 TAAGAGCTTGAAGG T 552840 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10344 561831 15 38616645 T C 552841 Benign not_provided . . 0.76478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10345 561479 15 38616815 G A 552842 Benign not_provided . . 0.90895 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10346 561832 15 38617282 A G 552845 Benign not_provided . . 0.79633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10347 561406 15 38631840 T C 552846 Benign not_provided . . 0.79932 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10348 41452 15 38631920 G A 49890 Benign Legius_syndrome|not_specified|not_provided 0.25027 0.22654 0.17792 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10349 41453 15 38631930 C A 49891 Benign/Likely_benign Legius_syndrome|not_specified|not_provided 0.82546 0.8637 0.79932 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10350 561407 15 38632148 A G 552847 Benign not_provided 0.90691 0.97471 0.90955 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10351 561480 15 38641891 A G 552848 Benign not_provided . . 0.79932 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10352 561481 15 38642971 G C 552849 Benign not_provided . . 0.79912 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10353 561482 15 38643009 G A 552850 Benign not_provided . . 0.79932 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10354 561483 15 38643031 C T 552851 Benign not_provided . . 0.79892 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10355 41370 15 38643574 T C 49794 Benign/Likely_benign Legius_syndrome|not_specified|not_provided 0.82538 . 0.79952 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10356 315753 15 38645521 ACTAT A 331665 Likely_benign Legius_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10357 315762 15 38646696 G A 322368 Likely_benign Legius_syndrome . . 0.13758 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10358 315774 15 38647695 G A 331693 Likely_benign Legius_syndrome . . 0.16474 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10359 315775 15 38647811 G A 340362 Likely_benign Legius_syndrome . . 0.95407 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10360 315780 15 38648527 T A 322372 Likely_benign Legius_syndrome . . 0.76737 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10361 315785 15 38648797 A G 338686 Likely_benign Legius_syndrome . . 0.15795 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10362 315789 15 38648975 C T 322393 Likely_benign Legius_syndrome . . 0.75379 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10363 674658 15 40226294 A G 666878 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10364 381178 15 40226495 T C 374053 Benign Pulmonary_venoocclusive_disease_2,_autosomal_r... 0.89862 0.91117 0.96006 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10365 674659 15 40231500 A G 667716 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10366 674660 15 40231625 A T 667720 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10367 674661 15 40232001 C A 668007 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10368 672385 15 40232115 G GA 667659 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10369 674638 15 40247689 A G 668011 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10370 683489 15 40253674 G A 666885 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10371 683492 15 40253723 C G 668013 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10372 678093 15 40253743 G T 667668 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10373 674639 15 40253819 C T 668022 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10374 674640 15 40254155 A G 666888 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10375 678114 15 40254332 T C 668026 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10376 683494 15 40257615 A G 667673 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10377 674641 15 40259504 G A 666895 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10378 674642 15 40265404 T C 666897 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10379 381179 15 40265799 A G 374061 Benign Pulmonary_venoocclusive_disease_2,_autosomal_r... 0.94267 0.88831 0.84445 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10380 674662 15 40270214 A G 666909 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10381 674663 15 40278192 T C 667723 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10382 674664 15 40282625 T C 668037 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10383 674665 15 40282701 T C 667729 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10384 674667 15 40284523 C T 667734 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10385 674668 15 40284802 C T 667680 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10386 674669 15 40285120 A G 666912 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10387 674670 15 40291140 C T 668039 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10388 674671 15 40300092 T C 666913 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10389 381181 15 40300214 G C 374485 Benign Pulmonary_venoocclusive_disease_2,_autosomal_r... 0.35064 0.39317 0.38019 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10390 683495 15 40312838 G A 667683 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10391 381183 15 40313083 G T 373397 Benign Pulmonary_venoocclusive_disease_2,_autosomal_r... 0.93858 0.91888 0.86821 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10392 674672 15 40314526 G A 667743 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10393 381185 15 40322552 G T 374064 Benign Pulmonary_venoocclusive_disease_2,_autosomal_r... 0.93031 0.91443 0.90555 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10394 683496 15 40324075 G C 666915 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10395 674673 15 40324837 C T 667684 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10396 402823 15 40328665 G A 390230 Benign not_specified 0.60623 0.61173 0.45787 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10397 133780 15 40477831 G A 137519 Benign not_specified 0.73597 0.65662 0.62819 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10398 257632 15 40488851 G A 255165 Benign not_specified 0.22643 . 0.1907 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10399 257634 15 40500986 C T 255167 Benign not_specified 0.46671 0.49157 0.39697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10400 803066 15 40509600 A G 791443 Benign Mosaic_variegated_aneuploidy_syndrome_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10401 94053 15 40699940 T C 99955 Benign Isovaleryl-CoA_dehydrogenase_deficiency|not_sp... 0.59557 0.68377 0.64796 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10402 197740 15 40703609 A G 194901 Benign not_specified . . 0.97844 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10403 258591 15 40705159 T C 255172 Benign not_specified 0.32931 0.46262 0.46605 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10404 258590 15 40708422 A G 255173 Benign not_specified 0.57727 0.67857 0.63219 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10405 315815 15 40711270 C G 322414 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . 0.50739 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10406 315820 15 40711933 G A 331727 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . 0.58686 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10407 315821 15 40712039 C G 322429 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . 0.50679 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10408 315822 15 40712072 C T 340379 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . 0.50699 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10409 315823 15 40712348 AG A 322434 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10410 315828 15 40712737 T C 331736 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . 0.61122 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10411 315834 15 40713306 T C 338723 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . 0.50719 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10412 315837 15 40713490 CA C 322437 Benign Isovaleryl-CoA_dehydrogenase_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10413 672913 15 40762879 A G 666917 Likely_benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10414 128769 15 40764549 G A 134218 Benign not_specified 0.14547 0.10394 0.15336 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10415 128586 15 40898643 G C 134035 Benign not_specified|Primary_Microcephaly,_Recessive 0.82218 0.74565 0.65375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10416 128595 15 40903684 A G 134044 Benign not_specified|Primary_Microcephaly,_Recessive . 0.78784 0.70527 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10417 128588 15 40913840 G T 134037 Benign not_specified|Primary_Microcephaly,_Recessive 0.82171 0.74554 0.65395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10418 128589 15 40914177 T C 134038 Benign not_specified|Primary_Microcephaly,_Recessive 0.39147 0.3924 0.35144 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10419 128590 15 40914772 C T 134039 Benign not_specified|Primary_Microcephaly,_Recessive 0.38989 0.39284 0.35084 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10420 128593 15 40915045 T G 134042 Benign Primary_autosomal_recessive_microcephaly_4|not... 0.3932 0.39234 0.35124 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10421 315854 15 40915190 A G 322446 Benign Primary_Microcephaly,_Recessive 0.86947 0.75891 0.70567 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10422 128596 15 40915894 T C 134045 Benign not_specified|Primary_Microcephaly,_Recessive 0.39279 0.39348 0.35184 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10423 128598 15 40916237 A G 134047 Benign not_specified|Primary_Microcephaly,_Recessive 0.3282 0.32704 0.20347 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10424 13128 15 40987528 G C 28167 risk_factor Breast_cancer,_susceptibility_to,_in_BRCA1_and... . . 0.14317 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10425 678273 15 42688772 A G 668072 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10426 92406 15 42694944 T C 98317 Benign not_specified|not_provided 0.78068 0.69279 0.71945 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10427 678277 15 42697231 C G 667772 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10428 668059 15 42701203 G C 668088 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10429 678278 15 42701688 T C 667780 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10430 678305 15 42703406 T C 668100 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10431 286594 15 42704105 C T 270831 Benign Limb-girdle_muscular_dystrophy,_type_2A|not_sp... . . 0.99121 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10432 130647 15 43044852 T C 136093 Benign/Likely_benign not_specified|Spinocerebellar_Ataxia,_Dominant... 0.01224 0.00946 0.00399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10433 316002 15 43212818 C G 338921 Benign Spinocerebellar_Ataxia,_Dominant . . 0.53874 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10434 262895 15 43256121 T C 255211 Benign not_specified 0.85958 0.86416 0.84485 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10435 262898 15 43352041 G A 255215 Benign not_specified 0.85904 0.8626 0.84445 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10436 255149 15 43499393 G A 255217 Conflicting_interpretations_of_pathogenicity Spherocytosis_type_5|not_specified|Spherocytos... 0.01615 0.0174 0.00539 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10437 165304 15 43893733 C T 176109 Benign not_specified 0.04379 0.04667 0.01817 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10438 227082 15 43903129 A G 230573 Benign not_specified . 0.02814 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10439 670115 15 44903285 C A 666939 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10440 194676 15 44907562 T C 191839 Benign Spastic_paraplegia_11,_autosomal_recessive|not... 0.01024 0.00993 0.00439 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10441 41271 15 44943757 A G 49695 Benign Spastic_paraplegia_11,_autosomal_recessive|not... 0.4793 0.46595 0.47484 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10442 316125 15 45385496 A T 340597 Likely_benign Congenital_hypothyroidism . . 0.23023 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10443 316126 15 45385626 C T 332071 Likely_benign Congenital_hypothyroidism . . 0.10324 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10444 316129 15 45385895 A G 322587 Likely_benign Congenital_hypothyroidism . . 0.09685 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10445 316130 15 45385916 C T 340603 Likely_benign Congenital_hypothyroidism . . 0.22524 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10446 260327 15 45386806 G C 255228 Benign/Likely_benign Congenital_hypothyroidism|not_specified 0.08428 0.06835 0.07049 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10447 260324 15 45391566 A T 255230 Benign Congenital_hypothyroidism|Thyroid_dyshormonoge... 0.99161 0.9977 0.99141 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10448 260323 15 45392075 G A 255231 Benign Congenital_hypothyroidism|Thyroid_dyshormonoge... 0.70274 0.86444 0.72025 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10449 260322 15 45393014 G C 255232 Benign not_specified 0.03533 0.04804 0.03135 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10450 260321 15 45397831 G A 255233 Benign/Likely_benign Congenital_hypothyroidism|not_specified 0.16587 0.09818 0.15296 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10451 260320 15 45397889 C T 255234 Benign/Likely_benign Congenital_hypothyroidism|not_specified 0.07843 0.0673 0.0629 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10452 260319 15 45398314 G A 255235 Benign/Likely_benign Congenital_hypothyroidism|not_specified 0.07866 0.06728 0.0631 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10453 260318 15 45398369 C T 255236 Benign/Likely_benign Congenital_hypothyroidism|not_specified 0.04965 . 0.03315 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10454 260317 15 45398438 T C 255237 Benign/Likely_benign Congenital_hypothyroidism|not_specified 0.18103 0.10207 0.16494 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10455 260315 15 45400358 C G 255239 Benign Congenital_hypothyroidism|Thyroid_dyshormonoge... 0.85668 . 0.86142 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10456 260326 15 45404066 G A 255241 Benign Congenital_hypothyroidism|Thyroid_dyshormonoge... 0.74315 0.86242 0.75998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10457 263302 15 45408414 C G 255242 Benign Thyroglobulin_synthesis_defect|not_specified 0.86438 0.96207 0.85843 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10458 263303 15 45408699 C T 255243 Benign Thyroglobulin_synthesis_defect|not_specified 0.70252 0.84185 0.68291 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10459 263304 15 45408710 A G 255244 Benign Thyroglobulin_synthesis_defect|not_specified 0.93514 . 0.92033 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10460 263305 15 45408933 T C 255245 Benign Thyroglobulin_synthesis_defect|not_specified 0.75344 0.87646 0.76418 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10461 263306 15 45409271 C T 255246 Benign Thyroglobulin_synthesis_defect|not_specified 0.70565 0.85168 0.68411 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10462 225957 15 45620985 C T 227779 drug_response hmg_coa_reductase_inhibitors_response_-_Toxici... . . 0.58746 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10463 316200 15 45653367 G A 340648 Benign Arginine:glycine_amidinotransferase_deficiency . . 0.71765 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10464 316201 15 45653394 C T 339114 Likely_benign Arginine:glycine_amidinotransferase_deficiency . . 0.05531 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10465 316203 15 45653572 C CTG 322635 Benign Arginine:glycine_amidinotransferase_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10466 316204 15 45653592 A G 332157 Benign Arginine:glycine_amidinotransferase_deficiency . . 0.61781 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10467 316206 15 45653707 T C 340649 Benign Arginine:glycine_amidinotransferase_deficiency . . 0.45068 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10468 129137 15 45654327 A G 134583 Benign Arginine:glycine_amidinotransferase_deficiency... 0.53394 0.53293 0.71765 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10469 680745 15 45655903 T C 667783 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10470 682670 15 45660758 C G 667717 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10471 129138 15 45661678 T A 134584 Benign Arginine:glycine_amidinotransferase_deficiency... 0.43496 . 0.61861 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10472 684069 15 45668547 A C 668109 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10473 680744 15 45668565 T C 668114 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10474 684068 15 45670316 G A 668116 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10475 316215 15 45670851 G A 340655 Benign Arginine:glycine_amidinotransferase_deficiency . 0.55333 0.44389 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10476 684065 15 45671325 A G 667726 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10477 225951 15 45673029 T C 227780 drug_response hmg_coa_reductase_inhibitors_response_-_Toxici... . . 0.45088 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10478 255874 15 48580713 T C 255252 Benign/Likely_benign Bartter_syndrome,_type_1,_antenatal|not_specif... 0.99744 0.99924 0.9978 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10479 316285 15 48595192 G T 339194 Benign Antenatal_Bartter_Syndrome . . 0.73522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10480 316290 15 48595366 A G 332223 Benign Antenatal_Bartter_Syndrome . . 0.69609 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10481 316294 15 48596166 A T 332230 Benign Antenatal_Bartter_Syndrome . . 0.82069 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10482 316310 15 48701029 C T 332247 Benign Ectopia_lentis|Marfan_syndrome|Acromicric_dysp... . . 0.78235 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10483 316329 15 48701612 A C 340715 Benign Ectopia_lentis|Marfan_syndrome|Acromicric_dysp... . . 0.65695 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10484 316351 15 48702457 C A 322767 Benign Ectopia_lentis|Marfan_syndrome|Acromicric_dysp... . . 0.91933 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10485 316354 15 48702873 G A 339275 Benign Ectopia_lentis|Marfan_syndrome|Acromicric_dysp... . . 0.60004 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10486 677988 15 48703823 A G 668117 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10487 680580 15 48705206 T C 667796 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10488 672314 15 48713996 G T 666958 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10489 680579 15 48720271 C T 666959 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10490 137312 15 48720526 G C 141015 Benign not_specified 0.6784 0.74038 0.65595 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10491 680578 15 48724768 C T 668138 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10492 680577 15 48733625 C T 667738 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10493 680575 15 48737126 T TAA 667828 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10494 680574 15 48739274 A G 668140 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10495 680569 15 48744489 C A 667847 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10496 228314 15 48807637 C T 230590 Benign Marfan_syndrome|Thoracic_aortic_aneurysm_and_a... . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10497 672311 15 48903126 A G 667816 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10498 678485 15 48937339 G A 668201 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10499 678344 15 49048965 G C 667824 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10500 678329 15 49052669 A C 666999 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10501 669844 15 49060083 G T 667825 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10502 669815 15 49060166 C G 667883 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10503 678328 15 49060725 T C 667830 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10504 678333 15 49083198 C T 667002 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10505 158274 15 49083577 C T 169172 Benign Seckel_syndrome|not_specified|Primary_Microcep... 0.41284 0.39745 0.34465 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10506 668065 15 49087934 T C 667003 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10507 136719 15 49090175 G A 140422 Benign/Likely_benign Seckel_syndrome|not_specified|Primary_Microcep... 0.0074 0.05345 0.08686 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10508 678332 15 49098016 C A 667840 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10509 316436 15 49103244 T C 332325 Benign Seckel_syndrome|Primary_Microcephaly,_Recessive . . 0.19709 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10510 4807 15 50878630 G A 19846 risk_factor Amyotrophic_lateral_sclerosis-parkinsonism/dem... . 0.08703 0.07588 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10511 677997 15 51200754 C T 667888 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10512 677998 15 51200839 A C 667845 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10513 678000 15 51204133 C T 667849 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10514 380768 15 51204364 G A 373594 Benign Spastic_paraplegia_51,_autosomal_recessive|not... 0.56279 0.56529 0.5591 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10515 128401 15 51217361 T C 133850 Benign Spastic_paraplegia_51,_autosomal_recessive|not... 0.43713 0.43515 0.4409 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10516 678001 15 51217475 G A 667010 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10517 667966 15 51217674 A G 668205 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10518 678002 15 51220989 G A 667013 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10519 667967 15 51223449 C G 667851 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10520 678003 15 51234178 A G 667852 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10521 680064 15 51251122 T G 667900 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10522 667968 15 51260875 T A 668218 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10523 680066 15 51291056 A C 667859 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10524 678004 15 51291576 G A 668220 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10525 255650 15 52643564 G A 255284 Benign Griscelli_syndrome_type_1|not_specified 0.14636 0.15428 0.14856 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10526 255639 15 52681573 A G 255294 Benign not_specified . 0.9688 0.96246 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10527 316486 15 53806154 C G 339375 Likely_benign Amelogenesis_Imperfecta,_Recessive . . 0.02696 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10528 316503 15 53807088 C A 339378 Benign Amelogenesis_Imperfecta,_Recessive . . 0.52716 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10529 316537 15 53807399 C T 322920 Benign Amelogenesis_Imperfecta,_Recessive . . 0.90435 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10530 316543 15 53807964 A C 332461 Benign Amelogenesis_Imperfecta,_Recessive . . 0.93171 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10531 316544 15 53807998 C T 340846 Benign Amelogenesis_Imperfecta,_Recessive . . 0.90455 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10532 316563 15 53808842 G A 340888 Benign Amelogenesis_Imperfecta,_Recessive . . 0.93211 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10533 316582 15 53815527 AAG A 340892 Uncertain_significance Amelogenesis_Imperfecta,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10534 262998 15 53994493 A G 255300 Benign not_specified|Amelogenesis_Imperfecta,_Recessive 0.5629 0.57917 0.63978 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10535 263003 15 54003091 G A 255301 Benign/Likely_benign not_specified|Amelogenesis_Imperfecta,_Recessive 0.40489 0.4113 0.32089 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10536 263002 15 54008795 T C 255302 Benign not_specified|Amelogenesis_Imperfecta,_Recessive 0.75798 0.74687 0.7492 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10537 263001 15 54008845 T C 255303 Benign not_specified|Amelogenesis_Imperfecta,_Recessive 0.95938 0.9882 0.95947 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10538 263000 15 54008889 GA G 255304 Benign/Likely_benign not_specified|Amelogenesis_Imperfecta,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10539 369092 15 55495151 G A 353321 Benign Griscelli_syndrome . . 0.26657 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10540 316611 15 55495698 C T 339482 Benign Griscelli_syndrome . . 0.26538 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10541 316612 15 55495774 A G 339485 Benign Griscelli_syndrome . . 0.26518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10542 316613 15 55495779 A T 339493 Benign Griscelli_syndrome . . 0.26558 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10543 316618 15 55495963 T C 322988 Benign Griscelli_syndrome . . 0.26518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10544 316621 15 55496043 T A 332533 Benign Griscelli_syndrome . . 0.26538 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10545 316622 15 55496058 A C 339506 Benign Griscelli_syndrome . . 0.26538 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10546 316624 15 55496111 T C 340922 Benign Griscelli_syndrome . . 0.26518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10547 316627 15 55496278 C T 340924 Benign Griscelli_syndrome . . 0.26518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10548 316628 15 55496287 A T 332547 Benign Griscelli_syndrome . . 0.26538 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10549 316633 15 55496756 T C 339514 Benign Griscelli_syndrome . . 0.26498 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10550 316634 15 55496769 G T 340931 Benign Griscelli_syndrome . . 0.26518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10551 316636 15 55496853 G A 322989 Benign Griscelli_syndrome . . 0.32668 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10552 259442 15 55497691 G A 255305 Benign not_specified|Griscelli_syndrome 0.28473 0.20073 0.26478 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10553 262315 15 55759193 T C 255310 Benign not_specified 0.45149 0.58383 0.52836 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10554 788449 15 58302887 T C 714508 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10555 316660 15 58834741 G T 323001 Benign Hepatic_lipase_deficiency 0.57889 . 0.47804 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10556 316666 15 58838038 C G 323007 Benign Hepatic_lipase_deficiency 0.42358 0.42891 0.30351 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10557 316673 15 58853079 C A 323013 Benign Hepatic_lipase_deficiency 0.94533 0.96875 0.9361 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10558 316674 15 58853109 A G 339577 Benign Hepatic_lipase_deficiency 0.94548 0.96875 0.9359 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10559 770787 15 62219337 G A 703274 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10560 668767 15 63334688 G C 667916 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10561 684019 15 63340292 C T 667936 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10562 668768 15 63341238 G C 667868 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10563 678622 15 63349564 C T 667948 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10564 684022 15 63351488 G A 667950 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10565 31888 15 63351840 C A 40548 Benign/Likely_benign Hypertrophic_cardiomyopathy|Familial_hypertrop... 0.63571 0.67368 0.70567 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10566 31889 15 63351873 T C 40549 Benign/Likely_benign Hypertrophic_cardiomyopathy|not_specified|Card... 0.0509 0.05331 0.02416 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10567 671948 15 63352092 G A 667955 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10568 678158 15 63357852 T G 667892 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10569 674934 15 64448365 C T 667895 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10570 675189 15 64448460 A T 668247 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10571 316715 15 65255704 C T 323041 Benign Spastic_Paraplegia,_Recessive . . 0.45407 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10572 667515 15 65272892 C A 667960 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10573 670117 15 65273399 T C 667961 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10574 670116 15 65273595 G A 667963 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10575 316729 15 65282191 G A 323048 Benign Spastic_Paraplegia,_Recessive . . 0.53994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10576 684265 15 65308583 C G 667897 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10577 684264 15 65315735 T G 668255 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10578 684261 15 65316386 T C 667041 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10579 129308 15 65369395 C T 134754 Benign Nemaline_myopathy_6|not_specified|Nemaline_Myo... 0.39571 0.40032 0.52177 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10580 129309 15 65369531 G T 134755 Benign not_specified|Nemaline_Myopathy,_Dominant 0.37547 0.40242 0.5016 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10581 129311 15 65369951 A G 134757 Benign Nemaline_myopathy_6|not_specified|Nemaline_Myo... 0.88046 0.88529 0.90375 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10582 129307 15 65370353 T C 134753 Benign not_specified|Nemaline_Myopathy,_Dominant 0.98964 0.99609 0.98942 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10583 316756 15 65370652 T C 341058 Benign Nemaline_Myopathy,_Dominant . . 0.39078 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10584 316757 15 65370835 C T 323067 Benign Nemaline_Myopathy,_Dominant . . 0.88938 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10585 316759 15 65371050 A G 323072 Benign Nemaline_Myopathy,_Dominant . . 0.34325 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10586 316764 15 65371427 A G 341062 Benign Nemaline_Myopathy,_Dominant . . 0.38319 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10587 6312 15 65494212 A G 21351 risk_factor Lumbar_disc_disease,_susceptibility_to . 0.56822 0.49661 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10588 316813 15 65947135 C A 341089 Likely_benign Congenital_Stationary_Night_Blindness,_Recessive . 0.05022 0.02037 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10589 316816 15 65947183 G A 323100 Likely_benign Congenital_Stationary_Night_Blindness,_Recessive . 0.12886 0.02656 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10590 40704 15 66679601 G C 49174 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.16374 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10591 40784 15 66727597 G C 49254 Benign not_specified 0.27315 . 0.27077 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10592 561383 15 66728951 A C 552857 Benign not_provided . . 0.18411 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10593 561540 15 66735925 C CAG 552859 Benign not_provided . . 0.97684 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10594 561818 15 66736741 C T 552861 Benign not_provided . . 0.31969 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10595 561384 15 66773975 G A 552863 Benign not_provided . . 0.15855 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10596 44586 15 66782108 CTATT C 53753 Benign Noonan_syndrome|Cardio-facio-cutaneous_syndrom... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10597 316841 15 66783261 C A 332760 Likely_benign Noonan_syndrome|Cardio-facio-cutaneous_syndrome . . 0.18311 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10598 240176 15 66995716 C T 242095 Benign Loeys-Dietz_syndrome_3 0.02094 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10599 139216 15 67358478 G A 142919 Benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... 0.21302 0.37699 0.22364 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10600 672362 15 67430223 T C 667052 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10601 683841 15 67430733 T C 668281 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10602 811543 15 67442596 C T 799816 Benign Loeys-Dietz_syndrome_3 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10603 139217 15 67457335 A G 142920 Benign Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_3|Th... 0.88 0.86352 0.83407 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10604 672363 15 67457485 G C 667970 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10605 672364 15 67458930 C T 667978 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10606 683844 15 67476735 G A 667985 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10607 683847 15 67476756 C T 668288 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10608 683848 15 67476768 C T 667905 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10609 673139 15 67476952 G T 668299 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10610 673140 15 67476970 T C 668313 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10611 316873 15 67483276 C T 332783 Benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... . . 0.2516 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10612 316889 15 67483717 G A 341152 Likely_benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... . . 0.01058 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10613 316892 15 67483979 G A 339754 Benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... . . 0.25339 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10614 316896 15 67484119 G A 341159 Benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... . . 0.2528 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10615 316902 15 67484297 C T 339761 Benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... . . 0.2528 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10616 316929 15 67485101 G A 323180 Benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... . . 0.17053 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10617 316934 15 67485156 C T 339769 Benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... . . 0.2518 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10618 316947 15 67485667 C T 332862 Benign Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_... . . 0.25479 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10619 803103 15 67528374 T G 791480 Benign Keratosis_palmoplantaris_papulosa . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10620 369098 15 68499321 T C 353327 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.48423 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10621 316970 15 68499661 G A 339790 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.40495 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10622 668098 15 68501710 C T 667994 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10623 668097 15 68506978 T G 668008 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10624 560340 15 68510770 A G 551393 Benign Ceroid_lipofuscinosis_neuronal_6 . . 0.47604 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10625 768717 15 69715488 C T 778135 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10626 445726 15 72105928 AC A 438998 Likely_benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10627 791639 15 72122642 C T 714580 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10628 317033 15 72635829 A C 332971 Benign Tay-Sachs_disease . . 0.69329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10629 317035 15 72635903 C T 341250 Benign Tay-Sachs_disease . . 0.69289 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10630 93191 15 72637795 T C 99098 Benign Tay-Sachs_disease|not_specified|not_provided 0.86954 0.96414 0.877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10631 684096 15 72638128 T C 668211 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10632 93189 15 72638892 T C 99096 Benign Tay-Sachs_disease|not_specified|not_provided 0.87 0.96433 0.8764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10633 166733 15 72987588 G T 177512 Benign Bardet-Biedl_syndrome_1|not_specified 0.93855 0.98328 0.94189 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10634 262143 15 73002035 G A 255348 Benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.93865 0.98308 0.94209 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10635 166734 15 73023937 T C 177513 Benign not_specified|not_provided 0.95604 0.98746 0.96046 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10636 21734 15 73027478 T C 34586 Benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.53272 0.57432 0.42891 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10637 317073 15 73030536 G T 341280 Likely_benign Bardet-Biedl_syndrome . . 0.11122 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10638 95285 15 73614834 T C 101184 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.87519 . 0.85963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10639 259779 15 73616635 T C 255358 Benign not_specified|not_provided 0.79908 0.87581 0.77296 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10640 683543 15 73617035 A G 667065 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10641 137539 15 73621946 G A 141242 Benign not_specified|Cardiovascular_phenotype 0.07398 0.08565 0.05312 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10642 137537 15 73660505 C T 141240 Benign not_specified|Cardiovascular_phenotype 0.03695 0.06131 0.02496 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10643 683544 15 73661687 T G 668358 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10644 14361 15 74219582 G A 29400 risk_factor Exfoliation_syndrome,_susceptibility_to . 0.18494 0.2476 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10645 14362 15 74222202 T C 29401 risk_factor Exfoliation_syndrome,_susceptibility_to . . 0.71286 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10646 403329 15 74328116 A G 390172 Benign not_specified 0.49908 0.52259 0.55192 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10647 403330 15 74328141 G T 390173 Benign not_specified 0.34642 0.3599 0.35124 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10648 317085 15 74472199 C T 341282 Benign Syndromic_Microphthalmia,_Recessive . . 0.53275 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10649 674954 15 74477216 G A 668018 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10650 674953 15 74477239 G A 667943 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10651 511079 15 75041917 C A 505375 Likely_benign not_specified . . 0.62979 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10652 675798 15 75047426 C T 656305 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10653 94067 15 75183935 G A 99969 Benign Congenital_disorder_of_glycosylation|Congenita... 0.38155 0.36891 0.21366 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10654 94069 15 75185670 A G 99971 Benign Congenital_disorder_of_glycosylation|Congenita... 0.4712 0.43747 0.33826 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10655 94066 15 75189930 A G 99968 Benign Congenital_disorder_of_glycosylation|Congenita... 0.4715 0.43764 0.33866 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10656 317152 15 76508684 T A 333071 Benign Glutaric_aciduria,_type_2 . . 0.97424 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10657 681672 15 76580527 C T 667092 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10658 683823 15 76580547 C T 668379 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10659 680103 15 76587777 C T 668384 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10660 676233 15 76603928 C T 668019 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10661 810900 15 77310636 G C 799822 Benign Pyogenic_arthritis,_pyoderma_gangrenosum_and_acne . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10662 440205 15 77324880 A G 433868 Benign Pyogenic_arthritis,_pyoderma_gangrenosum_and_a... . . 0.53175 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10663 668718 15 77327571 T C 668044 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10664 768719 15 78369959 G C 703352 Likely_benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10665 226515 15 78401620 C T 230606 Benign not_specified|not_provided 0.0255 0.02481 0.01178 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10666 402789 15 78558584 CAT C 390183 Likely_benign not_specified 0.03524 0.03216 0.01837 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10667 17497 15 78882925 G A 32536 drug_response Lung_cancer_susceptibility_2|Smoking_as_a_quan... . 0.26767 0.14956 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10668 17503 15 78894339 G A 32542 drug_response Lung_cancer_susceptibility_2|Smoking_as_a_quan... 0.27192 0.27297 0.16813 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10669 380447 15 80450383 G A 376678 Benign not_specified 0.00892 0.00328 0.00958 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10670 92446 15 80450389 G A 98355 Benign Hypertyrosinemia|Tyrosinemia_type_I|not_specified 0.44633 0.51406 0.50679 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10671 255279 15 80452075 T C 255370 Benign not_specified 0.60265 0.60983 0.63299 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10672 255280 15 80452268 G A 255371 Benign not_specified 0.6081 . 0.64038 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10673 255282 15 80460524 A G 255373 Benign not_specified 0.72705 0.73907 0.77875 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10674 317217 15 80478599 AC A 339979 Likely_benign Hypertyrosinemia . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10675 317219 15 80478645 T C 339984 Likely_benign Hypertyrosinemia . . 0.11262 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10676 317221 15 80478835 C G 341367 Likely_benign Hypertyrosinemia . . 0.05112 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10677 317222 15 80478861 T A 323442 Likely_benign Hypertyrosinemia . . 0.11262 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10678 710056 15 83349637 G A 726305 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10679 773051 15 84527509 C G 778145 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10680 679398 15 85188994 T C 656313 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10681 130839 15 85333953 A G 136283 Benign/Likely_benign Galloway-Mowat_syndrome_1|not_specified 0.75277 0.75013 0.78395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10682 382155 15 85360101 T C 374366 Benign not_specified 0.85564 0.81887 0.86482 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10683 678087 15 85361042 T G 667974 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10684 678441 15 85370597 C G 668413 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10685 379361 15 85382193 C A 374372 Benign not_specified 0.65918 0.6708 0.72584 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10686 382154 15 85383145 C G 374781 Benign not_specified 0.19848 0.22023 0.13638 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10687 384685 15 85383640 G A 374791 Benign not_specified 0.19734 0.22195 0.13798 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10688 383784 15 85383839 G A 374381 Benign not_specified 0.6751 0.67895 0.74361 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10689 683073 15 85384431 A G 668048 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10690 383785 15 85401259 C T 374427 Benign not_specified 0.78912 0.76442 0.80471 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10691 384674 15 85401419 T C 376712 Benign not_specified 0.83772 0.82764 0.84784 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10692 678477 15 85402431 G A 667134 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10693 678541 15 85402795 A G 668424 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10694 678542 15 85403496 G A 668061 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10695 384691 15 85405995 T C 376720 Benign not_specified 0.19955 0.22419 0.15036 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10696 683074 15 85406494 A C 668431 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10697 678088 15 85407564 A C 668066 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10698 384676 15 85411692 C T 376731 Benign not_specified 0.24973 0.30746 0.39497 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10699 284980 15 89392745 T C 269217 Benign not_specified 0.9901 0.99096 0.99561 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10700 283836 15 89400339 A C 268073 Benign not_specified 0.56895 0.53481 0.42412 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10701 317228 15 89753220 C T 341371 Benign Pigmentary_retinal_dystrophy|Newfoundland_rod-... . . 0.34764 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10702 317230 15 89753349 A C 339987 Benign Pigmentary_retinal_dystrophy|Newfoundland_rod-... . . 0.91594 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10703 378479 15 89754954 G A 374448 Benign not_specified 0.31882 0.33742 0.25619 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10704 257484 15 89804043 C T 255379 Benign Fanconi_anemia|not_specified|not_provided 0.28628 . 0.25978 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10705 257486 15 89804111 G A 255380 Benign not_specified 0.47561 0.41638 0.44928 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10706 257490 15 89806710 C T 255381 Benign not_specified 0.34805 0.38197 0.33886 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10707 257491 15 89806721 G A 255382 Benign not_specified 0.37067 0.38082 0.33826 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10708 257481 15 89826496 C T 255383 Benign Fanconi_anemia|not_specified 0.468 0.41731 0.4393 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10709 257482 15 89836228 G C 255384 Benign Fanconi_anemia|not_specified|not_provided 0.28994 . 0.26498 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10710 439694 15 89838236 G A 433550 Benign not_specified|not_provided 0.96007 0.95935 0.98083 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10711 257485 15 89838318 A T 255386 Benign/Likely_benign Fanconi_anemia|not_specified|not_provided 0.08293 0.09467 0.0595 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10712 257487 15 89844688 A C 255387 Benign Fanconi_anemia|not_specified 0.36721 0.39438 0.36262 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10713 210987 15 89857711 A ATACAAG 208225 Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10714 257489 15 89858602 T C 255389 Benign/Likely_benign Fanconi_anemia|not_specified|POLG-Related_Spec... 0.4096 0.41226 0.41234 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10715 317306 15 89859932 A AC 340026 Benign/Likely_benign Fanconi_anemia|POLG-Related_Spectrum_Disorders . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10716 317321 15 89860350 A C 323507 Benign Fanconi_anemia|POLG-Related_Spectrum_Disorders... . . 0.44589 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10717 619393 15 89860427 C T 610810 Benign/Likely_benign Progressive_sclerosing_poliodystrophy|not_prov... . . 0.44229 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10718 138763 15 89860786 A C 142466 Benign Progressive_sclerosing_poliodystrophy|not_spec... 0.43545 0.42095 0.41993 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10719 138754 15 89862341 A G 142457 Benign/Likely_benign Fanconi_anemia|Progressive_sclerosing_poliodys... . 0.37471 0.29812 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10720 619492 15 89862366 T C 610823 Benign Progressive_sclerosing_poliodystrophy 0.31213 0.3719 0.29113 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10721 619386 15 89864316 G GCTAC 610835 Benign Progressive_sclerosing_poliodystrophy . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10722 680714 15 89865692 T C 667155 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10723 667971 15 89866286 G A 667992 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10724 619385 15 89867154 A G 610855 Benign Progressive_sclerosing_poliodystrophy 0.57686 0.49909 0.54732 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10725 667969 15 89869666 G A 667163 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10726 667951 15 89871499 T C 668455 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10727 680713 15 89873797 A G 667167 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10728 680712 15 89876043 C G 668132 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10729 695736 15 89878391 T C 685411 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10730 263145 15 90173734 C CAG 255399 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.57432 . 0.49221 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10731 96655 15 90174789 C T 102548 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.54472 0.527 0.45108 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10732 96653 15 90174824 C T 102546 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.53128 0.51282 0.4393 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10733 96652 15 90174955 C T 102545 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.55927 0.54163 0.45108 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10734 96651 15 90176073 C A 102544 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.53731 0.52546 0.4383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10735 129413 15 90176432 T G 134859 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.87048 . 0.79453 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10736 683980 15 90189758 A C 668467 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10737 263138 15 90190048 A G 255406 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.61848 0.56967 0.51178 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10738 96649 15 90191827 T C 102542 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.92301 0.89122 0.86142 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10739 129408 15 90195967 C G 134854 Benign Acrocallosal_syndrome,_Schinzel_type|not_speci... 0.92563 . 0.86022 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10740 129972 15 90209135 G A 135418 Benign not_specified 0.03113 0.08823 0.02077 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10741 129970 15 90210263 A G 135416 Likely_benign not_specified 0.38106 0.37966 0.39637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10742 129973 15 90213229 G C 135419 Likely_benign not_specified 0.98938 . 0.89577 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10743 369104 15 90321996 C T 353333 Benign Jarcho-Levin_syndrome . . 0.57528 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10744 254778 15 91312313 G A 255426 Benign not_specified 0.16995 0.1553 0.16094 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10745 92392 15 91312823 T C 98303 Benign Bloom_syndrome|not_specified|not_provided 0.38193 0.29559 0.36661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10746 92394 15 91337479 G A 98305 Benign/Likely_benign Bloom_syndrome|Hereditary_cancer-predisposing_... 0.18456 0.16113 0.15116 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10747 254780 15 91341599 T G 255428 Benign not_specified 0.17645 0.15891 0.14477 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10748 210529 15 91346630 C CA 208234 Likely_benign not_specified . . 0.70308 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10749 92395 15 91346923 C A 98306 Benign/Likely_benign Bloom_syndrome|Hereditary_cancer-predisposing_... 0.16272 0.15527 0.13319 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10750 92396 15 91354505 C T 98307 Benign/Likely_benign Bloom_syndrome|Hereditary_cancer-predisposing_... 0.16456 0.15568 0.13279 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10751 210530 15 91358271 G GGAA 208235 Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10752 157646 15 91509592 T C 167495 Uncertain_significance Familial_cancer_of_breast . . 0.65555 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10753 157644 15 91511260 A G 167493 Uncertain_significance Familial_cancer_of_breast . . 0.75539 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10754 157640 15 91517780 G C 167489 Uncertain_significance Familial_cancer_of_breast 0.50731 0.5064 0.74301 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10755 157635 15 91523036 C T 167484 Uncertain_significance Familial_cancer_of_breast . . 0.49521 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10756 157632 15 91525197 C T 167481 Uncertain_significance Familial_cancer_of_breast 0.36715 0.30837 0.47065 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10757 157630 15 91527451 T A 167479 Uncertain_significance Familial_cancer_of_breast . . 0.42213 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10758 157631 15 91530820 A G 167480 Uncertain_significance Familial_cancer_of_breast . . 0.48463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10759 261041 15 91543761 C T 255432 Benign Arthrogryposis,_renal_dysfunction,_and_cholest... 0.56127 . 0.76777 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10760 261037 15 91548601 G A 255435 Benign Arthrogryposis_with_renal_dysfunction_and_chol... 0.09483 . 0.20807 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10761 317436 15 91565804 A G 341554 Benign Arthrogryposis_with_renal_dysfunction_and_chol... . . 0.75659 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10762 669402 15 93470217 G GTATGTT 667173 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10763 668075 15 93472582 C T 668143 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10764 668076 15 93485456 C G 668478 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10765 668077 15 93489747 C T 668028 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10766 680217 15 93497038 G A 668480 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10767 668078 15 93499385 A G 668158 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10768 257706 15 93510603 A G 255443 Benign History_of_neurodevelopmental_disorder|not_spe... 0.76559 0.84194 0.82648 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10769 668079 15 93510994 G T 668166 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10770 257708 15 93521604 A G 255445 Benign History_of_neurodevelopmental_disorder|not_spe... 0.74765 0.83525 0.80911 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10771 678926 15 93522312 G A 667191 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10772 680220 15 93524867 G A 667193 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10773 678928 15 93527794 A T 668498 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10774 668080 15 93527988 G C 668173 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10775 668081 15 93528473 T C 668180 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10776 257709 15 93536197 C T 255446 Benign History_of_neurodevelopmental_disorder|not_spe... 0.2485 0.22658 0.19349 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10777 678930 15 93540089 T C 668187 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10778 678932 15 93543531 A T 667200 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10779 668082 15 93545831 G T 668508 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10780 668083 15 93547575 T C 667204 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10781 680221 15 93555717 A G 668063 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10782 257713 15 93567864 A C 255450 Benign History_of_neurodevelopmental_disorder|not_spe... 0.31468 0.29462 0.1865 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10783 284932 15 99456253 T C 269169 Benign not_specified 0.46943 0.57752 0.51118 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10784 199042 15 99459278 C T 196202 Benign not_specified|not_provided 0.00724 0.00729 0.00479 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10785 282215 15 99459314 G T 266452 Conflicting_interpretations_of_pathogenicity Insulin-like_growth_factor_1_resistance_to|not... 0.00354 0.00361 0.002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10786 194610 15 99478225 G A 191773 Benign Insulin-like_growth_factor_1_resistance_to|not... 0.40268 0.39719 0.33566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10787 317500 15 99501929 GA G 340150 Benign Insulin-like_growth_factor_1_resistance_to . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10788 317535 15 99503199 GGT G 323741 Benign Insulin-like_growth_factor_1_resistance_to . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10789 317539 15 99503521 C CTT 340170 Benign Insulin-like_growth_factor_1_resistance_to . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10790 317546 15 99503800 G T 341605 Benign Insulin-like_growth_factor_1_resistance_to . . 0.48323 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10791 317570 15 99504671 C T 341626 Benign Insulin-like_growth_factor_1_resistance_to . . 0.59045 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10792 317637 15 99506942 C T 340252 Benign Insulin-like_growth_factor_1_resistance_to . . 0.98942 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10793 315163 15 100512594 A C 323871 Benign Weill-Marchesani_syndrome_4 . . 0.9998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10794 315178 15 100512878 C T 340296 Likely_benign Weill-Marchesani_syndrome_4 . . 0.01478 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10795 315190 15 100513318 A C 333587 Benign Weill-Marchesani_syndrome_4 . . 0.58447 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10796 315192 15 100513364 G A 323891 Benign Weill-Marchesani_syndrome_4 . . 0.58167 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10797 315193 15 100513372 ACCTT A 341712 Benign Weill-Marchesani_syndrome_4 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10798 315196 15 100513524 T C 341714 Benign Weill-Marchesani_syndrome_4 . . 0.58806 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10799 315197 15 100513529 C T 333598 Benign Weill-Marchesani_syndrome_4 . . 0.58786 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10800 315201 15 100513587 CTGGGCT C 340315 Conflicting_interpretations_of_pathogenicity Weill-Marchesani_syndrome_4 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10801 315207 15 100513707 A G 341719 Benign Weill-Marchesani_syndrome_4 . . 0.53674 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10802 315208 15 100513722 T C 340319 Benign Weill-Marchesani_syndrome_4 . . 0.57388 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10803 315210 15 100513725 C G 333602 Benign Weill-Marchesani_syndrome_4 . . 0.57768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10804 315221 15 100514040 C G 323900 Benign Weill-Marchesani_syndrome_4 . . 0.58646 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10805 315222 15 100514063 C T 341724 Benign Weill-Marchesani_syndrome_4 . . 0.58367 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10806 315224 15 100514097 G A 323905 Benign Weill-Marchesani_syndrome_4 . . 0.66094 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10807 315225 15 100514109 T G 340341 Benign Weill-Marchesani_syndrome_4 . . 0.59385 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10808 315230 15 100514178 T G 323910 Benign Weill-Marchesani_syndrome_4 . . 0.58846 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10809 315234 15 100514194 C CAGAATAAAGCCTTT 340349 Benign Weill-Marchesani_syndrome_4 . . 0.58467 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10810 315236 15 100514291 A G 323914 Benign Weill-Marchesani_syndrome_4 . . 0.58666 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10811 315243 15 100514494 T C 340365 Benign Weill-Marchesani_syndrome_4 . . 0.59006 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10812 315245 15 100514525 C T 323916 Benign Weill-Marchesani_syndrome_4 . . 0.33846 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10813 315246 15 100514561 G C 323920 Benign Weill-Marchesani_syndrome_4 0.6467 0.62819 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10814 315248 15 100514614 T C 341746 Benign Weill-Marchesani_syndrome_4 0.71444 . 0.67951 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10815 315286 15 100672237 T G 340003 Benign Weill-Marchesani_syndrome_4 0.99839 . 0.9976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10816 315304 15 100801698 G A 338092 Benign Weill-Marchesani_syndrome_4 0.674 0.68255 0.69209 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10817 315328 15 100882122 GC G 340037 Benign Weill-Marchesani_syndrome_4 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10818 587793 15 101109677 C A 579916 Benign History_of_neurodevelopmental_disorder 0.40612 0.38499 0.3115 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10819 587795 15 101109794 C G 579918 Benign History_of_neurodevelopmental_disorder 0.40612 0.38484 0.3115 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10820 587792 15 101109818 G A 580207 Benign History_of_neurodevelopmental_disorder 0.50215 0.50561 0.45627 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10821 587794 15 101109893 C A 580213 Benign History_of_neurodevelopmental_disorder 0.40612 0.38475 0.3117 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10822 587791 15 101110265 T A 579973 Benign History_of_neurodevelopmental_disorder 0.40557 . 0.3115 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10823 587799 15 101110302 C G 579971 Benign History_of_neurodevelopmental_disorder 0.3389 0.34384 0.25479 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10824 587782 15 101113950 A G 579925 Benign History_of_neurodevelopmental_disorder 0.41942 0.38853 0.32748 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10825 587790 15 101114418 G A 579990 Benign History_of_neurodevelopmental_disorder 0.39921 0.38674 0.3143 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10826 587785 15 101120963 T C 579999 Benign History_of_neurodevelopmental_disorder 0.38805 0.38358 0.29852 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10827 683870 15 101425703 T C 667937 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10828 677157 15 101436307 C T 667941 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10829 256761 15 101445900 G A 255126 Benign not_specified|not_provided 0.14709 0.20456 0.21346 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10830 677159 15 101448571 T A 667669 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10831 672053 15 101717680 G T 656277 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10832 439108 16 223706 A G 432860 Benign not_specified . . 0.99701 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10833 402921 16 223735 A G 390135 Benign not_specified . . 0.93391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10834 402405 16 396264 A G 390297 Benign not_specified 0.71413 0.62184 0.63898 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10835 257169 16 774520 C T 255863 Benign not_specified 0.42182 0.60797 0.58966 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10836 128631 16 774692 A G 134080 Benign not_specified 0.53594 0.60387 0.70088 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10837 257165 16 775947 G C 255867 Benign not_specified 0.20317 . 0.15974 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10838 257162 16 775954 CC AA 255869 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10839 768735 16 817016 AGCCAGGGAGTCCCTG A 778218 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10840 96005 16 1252369 C T 101900 Benign Epilepsy,_childhood_absence_6|not_specified|no... 0.22353 . 0.4399 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10841 96008 16 1254369 C T 38427 Benign not_specified|not_provided 0.0738 . 0.04673 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10842 96011 16 1260481 T C 101905 Benign Epilepsy,_childhood_absence_6|not_specified|no... 0.84704 0.86015 0.91993 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10843 585639 16 1260636 G A 577430 Benign not_provided 0.04788 0.06061 0.03355 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10844 585642 16 1261219 A G 577432 Benign not_provided 0.64321 0.64312 0.70967 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10845 585643 16 1261222 A G 577433 Benign not_provided 0.64353 0.64323 0.70967 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10846 585644 16 1261282 T C 577434 Benign not_provided 0.84797 0.85969 0.91773 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10847 585650 16 1268013 G C 577440 Benign not_provided 0.04325 0.07991 0.03275 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10848 585651 16 1268376 G A 577441 Benign not_provided 0.04162 0.09794 0.03175 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10849 585653 16 1268494 C T 577443 Benign not_provided 0.65101 0.62243 0.69908 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10850 518260 16 1269029 T C 508885 Benign Epilepsy,_childhood_absence_6|not_provided 0.66044 0.61036 0.69169 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10851 585654 16 1269095 C T 577444 Benign not_provided 0.03892 0.09078 0.03275 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10852 96016 16 1270162 G A 101910 Benign Epilepsy,_childhood_absence_6|not_specified|no... 0.64683 0.66278 0.70068 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10853 96018 16 1270349 T C 101912 Benign Epilepsy,_childhood_absence_6|not_specified|no... 0.85967 0.85827 0.91394 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10854 317904 16 1495006 C G 341950 Benign Osteopetrosis . . 0.66134 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10855 317912 16 1495243 T G 333780 Benign Osteopetrosis . . 0.91893 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10856 317913 16 1495300 G A 340566 Benign Osteopetrosis . . 0.46965 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10857 317926 16 1495897 G A 333791 Benign Osteopetrosis . . 0.58706 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10858 257949 16 1503879 T A 255466 Benign Osteopetrosis|not_specified 0.50931 . 0.55591 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10859 317981 16 1560886 A G 324309 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,... . . 0.38978 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10860 516182 16 1573810 A G 505581 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,... 0.96391 0.96454 0.98443 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10861 129260 16 1574863 G A 134706 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,... 0.18811 0.19852 0.23103 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10862 129259 16 1608082 A G 134705 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,... 0.30743 0.25633 0.34744 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10863 129258 16 1614097 A G 134704 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,... 0.42299 0.39087 0.50519 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10864 318223 16 1657284 C G 334063 Benign Renal_dysplasia,_retinal_pigmentary_dystrophy,... 0.43845 0.40035 0.51498 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10865 318265 16 1842209 A G 334129 Benign Acid-labile_subunit_deficiency 0.81986 . 0.78415 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10866 318273 16 1843672 T C 324568 Benign Acid-labile_subunit_deficiency 0.71762 0.69991 0.66873 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10867 671762 16 2033941 C A 668649 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10868 671621 16 2033970 C G 668341 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10869 671622 16 2034137 C T 668167 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10870 676125 16 2035762 T C 668170 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10871 676126 16 2035784 C T 668660 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10872 49958 16 2105335 C G 59120 not_provided Tuberous_sclerosis_syndrome . . 0.15336 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10873 49957 16 2105400 C T 59119 Benign Neoplasm_of_brain|Hereditary_cancer-predisposi... 0.12842 0.08711 0.09205 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10874 675047 16 2110571 C G 668366 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10875 49143 16 2111779 T C 58305 Benign not_provided . . 0.61062 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10876 49695 16 2115481 C T 58857 Benign Tuberous_sclerosis_syndrome|not_specified|not_... 0.07387 0.07124 0.03934 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10877 677145 16 2115819 A G 668375 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10878 65157 16 2120402 T C 76088 Benign Tuberous_sclerosis_syndrome|not_provided . . 0.39337 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10879 65253 16 2136624 T C 76185 Benign Tuberous_sclerosis_syndrome|not_provided . . 0.24121 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10880 49431 16 2138218 A C 58593 Benign Tuberous_sclerosis_syndrome|Tuberous_sclerosis... 0.32849 0.20672 0.25699 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10881 49895 16 2138269 T C 59057 Benign Hereditary_cancer-predisposing_syndrome|Tubero... 0.33246 0.18828 0.27636 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10882 49420 16 2138398 C T 58582 Benign Tuberous_sclerosis_syndrome|not_specified|not_... 0.20146 0.11018 0.16773 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10883 49976 16 2138422 C G 59138 Benign Tuberous_sclerosis_syndrome|Tuberous_sclerosis... 0.2313 0.12096 0.20088 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10884 256921 16 2140010 A G 255507 Benign Polycystic_kidney_disease,_adult_type|not_spec... 0.33032 . 0.27796 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10885 256917 16 2140454 T C 255511 Benign Polycystic_kidney_disease,_adult_type|not_spec... 0.3261 . 0.27636 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10886 256913 16 2140680 T C 255514 Benign Polycystic_kidney_disease,_adult_type|not_spec... 0.31104 0.19094 0.252 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10887 257034 16 2152651 T C 255553 Benign Polycystic_kidney_disease,_adult_type|not_spec... 0.27843 0.1646 0.22065 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10888 440071 16 2154478 A G 433189 Benign Polycystic_kidney_disease,_adult_type . . 0.63259 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10889 257004 16 2156021 A G 255582 Benign Polycystic_kidney_disease,_adult_type|not_spec... . . 0.17772 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10890 256997 16 2156850 A G 255589 Benign Polycystic_kidney_disease,_adult_type|not_spec... . 0.18749 0.24261 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10891 256968 16 2160503 T G 255617 Benign Polycystic_kidney_disease,_adult_type|not_spec... 0.28264 . 0.22165 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10892 256944 16 2162839 T C 255640 Benign Polycystic_kidney_disease,_adult_type|not_spec... 0.04133 0.03738 0.01997 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10893 256942 16 2162887 A G 255642 Benign Polycystic_kidney_disease,_adult_type|not_spec... 0.22576 0.11047 0.18291 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10894 256929 16 2165630 T C 255655 Benign Polycystic_kidney_disease,_adult_type|not_spec... 0.22783 0.18833 0.22664 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10895 162672 16 2331430 A G 175790 Benign not_specified 0.86942 0.91921 0.90096 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10896 775366 16 2498949 G T 703568 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10897 318648 16 2552650 G A 341030 Uncertain_significance Myoclonic_epilepsy,_familial_infantile . . 0.00699 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10898 318677 16 2553869 A T 342579 Benign Myoclonic_epilepsy,_familial_infantile . . 0.45547 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10899 318688 16 2554553 G A 342594 Uncertain_significance Myoclonic_epilepsy,_familial_infantile . . 0.0004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10900 768742 16 3142911 C G 703649 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10901 319086 16 3292085 C A 341340 Likely_benign Familial_Mediterranean_fever . . 0.65096 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10902 319088 16 3292304 C CAGT 325218 Likely_benign Familial_Mediterranean_fever . . 0.64996 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10903 319092 16 3292398 A G 325223 Likely_benign Familial_Mediterranean_fever . . 0.69429 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10904 319101 16 3292672 CAAA C 334887 Likely_benign Familial_Mediterranean_fever . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10905 224065 16 3292874 C T 225792 Likely_benign Familial_Mediterranean_fever . . 0.64617 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10906 224064 16 3292896 C T 225793 Likely_benign Familial_Mediterranean_fever . . 0.63978 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10907 36505 16 3293888 C T 45167 Benign Familial_Mediterranean_fever|not_specified 0.42358 . 0.35363 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10908 439880 16 3293922 A T 433684 Benign not_specified 0.40565 . 0.3113 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10909 676934 16 3294678 G A 668336 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10910 667833 16 3294931 A C 667523 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10911 439879 16 3296429 G A 433683 Benign not_specified . . 0.45407 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10912 439878 16 3296616 C T 433682 Benign not_specified|not_provided 0.43999 . 0.45407 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10913 36503 16 3297073 A G 45165 Benign/Likely_benign Familial_Mediterranean_fever|not_specified 0.58419 0.61043 0.66314 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10914 255615 16 3297175 T C 255706 Benign/Likely_benign Familial_Mediterranean_fever|not_specified 0.56857 0.6057 0.65056 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10915 36500 16 3297181 C T 45162 Benign/Likely_benign Familial_Mediterranean_fever|not_specified 0.56657 0.60267 0.63898 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10916 667831 16 3298642 G A 668504 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10917 36515 16 3299749 G A 45177 Benign/Likely_benign Familial_Mediterranean_fever|not_specified 0.59566 0.62835 0.6907 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10918 36512 16 3304463 C T 45174 Benign/Likely_benign Familial_Mediterranean_fever|not_specified 0.18032 0.2555 0.13598 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10919 36511 16 3304573 G T 45173 Benign/Likely_benign Familial_Mediterranean_fever|not_specified 0.46697 0.49074 0.38638 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10920 36510 16 3304654 T C 45172 Benign/Likely_benign Familial_Mediterranean_fever|not_specified 0.46637 . 0.38658 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10921 36509 16 3304762 A G 45171 Benign/Likely_benign Familial_Mediterranean_fever|not_specified 0.47631 0.43818 0.38938 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10922 260710 16 3724465 G C 255737 Benign not_specified|not_provided 0.33169 . 0.39277 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10923 260709 16 3726160 A G 255738 Benign not_specified 0.9242 0.9303 0.96705 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10924 96224 16 4386814 T C 102118 Benign Nephronophthisis|not_specified|not_provided 0.97499 0.97962 0.99121 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10925 319241 16 4388139 G A 341474 Benign Nephronophthisis . . 0.15355 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10926 319394 16 4847169 G A 341579 Benign Kohlschutter's_syndrome . . 0.39577 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10927 319396 16 4847317 C T 325480 Benign Kohlschutter's_syndrome . . 0.39796 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10928 319413 16 4852892 G C 335133 Benign Kohlschutter's_syndrome . . 0.38898 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10929 260705 16 5075542 G A 255780 Benign not_specified 0.71725 0.70167 0.79253 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10930 260704 16 5075633 G A 255781 Benign not_specified 0.2764 0.30098 0.20088 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10931 260703 16 5077395 TGGGAGGA T 255782 Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10932 260708 16 5078841 T C 255783 Benign not_specified 0.99969 . 0.9992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10933 260707 16 5080523 C T 255784 Benign not_specified 0.2333 0.22892 0.1851 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10934 260706 16 5083483 T C 255785 Benign not_specified 0.6829 0.71019 0.73023 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10935 95935 16 5122072 G GGTCT 101831 Benign Congenital_disorder_of_glycosylation_type_1K|n... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10936 95936 16 5123270 C T 101832 Benign not_specified 0.24142 . 0.17672 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10937 803210 16 6533549 C A 791630 Benign Idiopathic_generalized_epilepsy . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10938 320841 16 8839954 A G 344189 Benign Gamma-aminobutyric_acid_transaminase_deficienc... 0.51401 0.58413 0.5008 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10939 320843 16 8841960 T C 336367 Benign Gamma-aminobutyric_acid_transaminase_deficienc... 0.47576 0.57041 0.46945 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10940 321071 16 8858580 T A 344196 Benign Gamma-aminobutyric_acid_transaminase_deficiency 0.85901 0.89854 0.82588 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10941 321082 16 8868776 C A 326555 Benign Gamma-aminobutyric_acid_transaminase_deficienc... 0.32261 0.38555 0.31749 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10942 321094 16 8875529 G T 342608 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.3738 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10943 321104 16 8875799 G A 336390 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.37121 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10944 321107 16 8876202 C G 326569 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.38498 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10945 321109 16 8876277 G C 326573 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.60643 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10946 321111 16 8876418 G A 342626 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.55032 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10947 321126 16 8876880 T A 344235 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.38618 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10948 321134 16 8877220 T C 342650 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.90815 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10949 321139 16 8877401 G A 344245 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.60683 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10950 321145 16 8877854 C G 342652 Benign Gamma-aminobutyric_acid_transaminase_deficiency . . 0.60543 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10951 495797 16 8904877 T TATG 487926 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10952 92802 16 8905054 T C 98709 Benign Congenital_disorder_of_glycosylation,_type_Ia|... 0.43742 0.46536 0.38119 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10953 321232 16 8941934 C A 326761 Likely_benign Congenital_disorder_of_glycosylation . . 0.39617 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10954 321248 16 8942473 G C 326771 Benign Congenital_disorder_of_glycosylation . . 0.92093 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10955 321471 16 9848471 T G 336832 Benign Epilepsy,_focal,_with_speech_disorder_and_with... . . 0.7506 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10956 321501 16 9850397 A G 336853 Benign Epilepsy,_focal,_with_speech_disorder_and_with... . . 0.42332 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10957 321514 16 9850857 G C 336862 Benign Epilepsy,_focal,_with_speech_disorder_and_with... . . 0.41633 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10958 321515 16 9850878 T C 344757 Benign Epilepsy,_focal,_with_speech_disorder_and_with... . . 0.41733 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10959 321519 16 9851122 C T 343130 Benign Epilepsy,_focal,_with_speech_disorder_and_with... . . 0.36761 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10960 321520 16 9851188 G A 343131 Benign Epilepsy,_focal,_with_speech_disorder_and_with... . . 0.7522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10961 321565 16 9854389 C G 343154 Benign Epilepsy,_focal,_with_speech_disorder_and_with... . . 0.374 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10962 321583 16 9855794 G A 336920 Benign Epilepsy,_focal,_with_speech_disorder_and_with... . . 0.26817 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10963 681804 16 9862556 G T 668744 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10964 129192 16 9916204 C G 134638 Benign History_of_neurodevelopmental_disorder|Epileps... 0.35109 0.26482 0.28115 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10965 675086 16 9923179 G A 669016 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10966 674884 16 9935066 T G 668617 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10967 681643 16 9943432 G T 667736 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10968 129190 16 9943666 C T 134636 Benign History_of_neurodevelopmental_disorder|Epileps... 0.29652 0.2542 0.22584 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10969 681642 16 9943995 A G 668765 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10970 683415 16 9984523 C T 667740 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10971 258093 16 10631945 G A 255451 Benign not_specified 0.42335 . 0.41973 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10972 402538 16 10995933 A G 390078 Benign Bare_lymphocyte_syndrome_2|not_specified 0.98315 0.99586 0.98722 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10973 317717 16 11002904 G A 323996 Benign Bare_lymphocyte_syndrome_2|not_specified 0.63468 0.68396 0.66314 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10974 317718 16 11002927 A G 323999 Benign Bare_lymphocyte_syndrome_2|not_specified 0.91989 0.97872 0.92871 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10975 317725 16 11016045 C T 324017 Likely_benign Bare_lymphocyte_syndrome_2 0.09805 0.10088 0.10483 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10976 317727 16 11017728 G C 341801 Likely_benign Bare_lymphocyte_syndrome_2 . . 0.07189 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10977 317747 16 11018622 T C 341808 Benign Bare_lymphocyte_syndrome_2 . . 0.69169 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10978 684091 16 11650057 T C 668090 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10979 683058 16 11650325 G A 668536 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10980 684077 16 11650887 C T 667277 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10981 259686 16 14026007 G A 255455 Benign Xeroderma_pigmentosum|not_specified 0.98461 . 0.94649 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10982 317845 16 14043912 G A 333761 Uncertain_significance Xeroderma_pigmentosum . . 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10983 317871 16 14045643 G A 324203 Uncertain_significance Xeroderma_pigmentosum . . 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10984 672359 16 15813945 C T 667306 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10985 138342 16 15818141 A C 142045 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_4|Thoracic_... 0.45898 . 0.41014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10986 318129 16 15818991 TA T 333972 Uncertain_significance Lissencephaly,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10987 138334 16 15820863 C T 142037 Benign/Likely_benign Aortic_aneurysm,_familial_thoracic_4|Thoracic_... 0.20679 0.24569 0.20387 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10988 672357 16 15831212 G A 667315 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10989 680674 16 15832141 C G 667318 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10990 670997 16 15838940 G C 668285 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10991 138330 16 15839034 G A 142033 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection... 0.2632 0.29751 0.25359 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10992 678515 16 15839328 C G 668287 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10993 672356 16 15843899 G A 668296 Benign Aortic_aneurysm,_familial_thoracic_4|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10994 672355 16 15850004 T C 668301 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10995 138327 16 15850204 A G 142030 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection... 0.499 0.4437 0.54812 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10996 138371 16 15853596 C G 142074 Benign/Likely_benign Thoracic_aortic_aneurysm_and_aortic_dissection... 0.47322 0.41639 0.53434 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
10997 680657 16 15870309 A G 668315 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10998 680653 16 15916861 A C 668329 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
10999 680648 16 15932374 C T 667347 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11000 126852 16 16169566 C T 132366 Uncertain_significance Familial_cancer_of_breast . . 0.5611 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11001 126860 16 16177687 G A 132374 Uncertain_significance Familial_cancer_of_breast . . 0.80371 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11002 433369 16 16243973 C T 426779 Benign Pseudoxanthoma_elasticum 0.05694 0.07013 0.06629 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11003 433280 16 16271409 G A 426928 Benign Pseudoxanthoma_elasticum 0.18816 0.13953 0.15156 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11004 433247 16 16278863 G T 426987 Benign Pseudoxanthoma_elasticum 0.45306 0.41518 0.33267 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11005 433246 16 16278869 G C 426988 Benign Pseudoxanthoma_elasticum 0.45306 0.41515 0.33267 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11006 433244 16 16281007 A G 426990 Benign Pseudoxanthoma_elasticum 0.46398 0.42612 0.33946 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11007 433383 16 16291858 G C 427023 Benign Pseudoxanthoma_elasticum 0.67372 . 0.73143 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11008 433382 16 16291871 G C 427024 Benign Pseudoxanthoma_elasticum 0.73811 . 0.78794 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11009 433228 16 16291971 C T 427028 Benign Pseudoxanthoma_elasticum 0.30603 0.30672 0.23223 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11010 143117 16 16291983 A G 152835 Likely_benign not_provided 0.3133 0.3384 0.28275 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11011 143120 16 16302586 T C 152838 Conflicting_interpretations_of_pathogenicity Pseudoxanthoma_elasticum|not_provided . 0.05976 . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11012 669474 16 19078630 A T 668335 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11013 683572 16 19079095 T G 668160 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11014 683574 16 19083035 G A 668645 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11015 683575 16 19083221 A G 668337 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11016 683576 16 19083549 C T 667359 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11017 678528 16 19085298 C T 656341 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11018 669795 16 19086764 C CGCCT 668165 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11019 683582 16 19089098 G A 668340 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11020 402512 16 19547747 C G 390286 Benign not_specified 0.92758 0.86814 0.82808 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11021 318299 16 20362106 A G 342241 Benign not_specified|Uromodulin-associated_kidney_dis... 0.03106 0.02684 0.04014 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11022 402724 16 21078693 T G 390162 Benign not_specified 0.40917 . 0.44449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11023 44241 16 21272591 G C 53408 Benign not_specified 0.53147 . 0.5026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11024 44237 16 21286927 A G 53404 Benign not_specified 0.28751 0.23428 0.20288 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11025 47954 16 21689879 T A 57118 Benign not_specified 0.0337 0.06236 0.10304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11026 682739 16 21690559 G A 668216 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11027 47952 16 21730449 C T 57116 Benign not_specified 0.6411 0.63197 0.57668 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11028 318343 16 23197545 C G 334228 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.20359 . 0.19689 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11029 318344 16 23197562 A G 324670 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.20394 0.2378 0.19689 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11030 165172 16 23200761 T C 176148 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.26943 0.30228 0.23902 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11031 165173 16 23200848 T C 176006 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.26959 0.30177 0.23922 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11032 165174 16 23200923 C T 176149 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.06411 0.06086 0.04453 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11033 165176 16 23221183 A G 176008 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.75512 0.81062 0.78375 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11034 318367 16 23227362 A G 334266 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... . . 0.33946 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11035 318371 16 23227449 T C 334268 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... . . 0.33946 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11036 318373 16 23227579 T C 340920 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... . . 0.33886 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11037 165167 16 23360199 T C 176011 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.66231 0.63547 0.78854 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11038 165170 16 23391401 G A 176014 Benign Pseudohypoaldosteronism_type_1_autosomal_reces... 0.01978 . 0.04133 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11039 318516 16 23534098 G A 340995 Benign Combined_oxidative_phosphorylation_deficiency . . 0.78694 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11040 318518 16 23534249 G C 342493 Benign Combined_oxidative_phosphorylation_deficiency . . 0.78694 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11041 318532 16 23535156 CT C 324778 Benign Combined_oxidative_phosphorylation_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11042 318536 16 23535307 CTCTGT C 334395 Benign Combined_oxidative_phosphorylation_deficiency . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11043 318539 16 23535680 A C 260348 Benign Combined_oxidative_phosphorylation_deficiency 0.85007 0.83036 0.80212 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11044 680558 16 23536366 T C 667432 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11045 671646 16 23536531 C T 667437 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11046 137186 16 23536684 T C 140889 Benign not_specified|Combined_oxidative_phosphorylati... 0.84962 0.83063 0.80192 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11047 671552 16 23540798 C T 668245 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11048 137185 16 23541223 G A 140888 Benign not_specified|Combined_oxidative_phosphorylati... 0.73682 0.75567 0.67312 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11049 680557 16 23544295 G A 668733 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11050 137183 16 23546561 G C 140886 Benign not_specified|Combined_oxidative_phosphorylati... 0.85249 0.83081 0.80272 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11051 676118 16 23555726 C T 668436 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11052 137191 16 23563501 C T 140894 Benign not_specified|Combined_oxidative_phosphorylati... 0.73434 0.75606 0.67472 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11053 126714 16 23625463 A T 132224 Likely_benign Familial_cancer_of_breast . 0.99747 0.99681 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11054 679913 16 28489342 G A 668458 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11055 668788 16 28495752 C T 668267 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11056 668786 16 28499659 A T 668740 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11057 318738 16 28853996 A C 341082 Benign Combined_oxidative_phosphorylation_deficiency . . 0.26158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11058 667506 16 28854769 A G 668291 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11059 318747 16 28855727 A G 341086 Benign Combined_oxidative_phosphorylation_deficiency 0.34462 0.34544 0.26158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11060 318760 16 28857645 A G 342632 Benign Combined_oxidative_phosphorylation_deficiency . . 0.34924 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11061 671198 16 28889486 C A 668464 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11062 678078 16 28890131 C A 668298 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11063 678079 16 28893532 A G 667497 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11064 678080 16 28893571 T C 668302 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11065 678081 16 28896015 C T 667509 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11066 96545 16 28898793 T C 102439 Benign Brody_myopathy|not_specified|not_provided 0.40365 0.34819 0.33886 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11067 678082 16 28906084 G C 668484 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11068 678083 16 28913787 T C 668489 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11069 678094 16 28915217 G A 668502 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11070 678201 16 28915433 A C 667510 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11071 96539 16 28915527 G A 102433 Benign Brody_myopathy|not_specified|not_provided 0.75142 0.70601 0.81869 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11072 318803 16 28944396 C G 341124 Benign Common_variable_immunodeficiency_3|not_specifi... 0.76936 0.72932 0.83027 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11073 318805 16 28944700 G T 324967 Benign Common_Variable_Immune_Deficiency,_Recessive 0.27536 . 0.1871 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11074 318821 16 28950574 AGT A 324989 Uncertain_significance Common_Variable_Immune_Deficiency,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11075 803248 16 29814234 G A 791581 Benign Spondyloepimetaphyseal_dysplasia_with_joint_la... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11076 167544 16 29825126 T C 177989 Benign not_specified 0.99076 0.99796 0.99181 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11077 769898 16 30021402 C T 703631 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11078 259450 16 30098189 GTGA G 255674 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11079 512692 16 30119525 C A 505610 Benign not_specified 0.84562 0.88279 0.89517 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11080 260018 16 30718873 C T 255677 Benign not_specified 0.15584 0.15443 0.08327 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11081 195889 16 30734963 C A 193050 Benign not_specified 0.97607 0.99389 0.98123 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11082 160034 16 30735038 C G 169197 Benign/Likely_benign Floating-Harbor_syndrome|not_specified 0.01616 0.01346 0.00659 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11083 318927 16 30759716 T C 341225 Benign Glycogen_phosphorylase_kinase_deficiency . . 0.98143 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11084 255782 16 30762640 C T 255685 Benign not_specified 0.95844 0.98945 0.96745 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11085 318968 16 30914626 T C 341249 Likely_benign Dilated_Cardiomyopathy,_Dominant . . 0.58866 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11086 261873 16 30999142 A G 255691 Benign not_specified 0.52271 . 0.49341 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11087 261870 16 30999462 T C 255696 Benign not_specified 0.5244 0.60329 0.49281 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11088 225975 16 31103796 A G 227784 drug_response warfarin_response_-_Dosage|not_provided . . 0.60963 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11089 226026 16 31104509 C G 227785 drug_response not_specified|warfarin_response_-_Dosage . . 0.41633 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11090 37344 16 31104878 G A 38302 drug_response Warfarin_response|not_specified|acenocoumarol_... . . 0.35583 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11091 225960 16 31105353 G A 227786 drug_response warfarin_response_-_Dosage|not_provided . . 0.09365 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11092 2211 16 31107689 C T 17250 Likely_benign,_other Warfarin_response|not_specified|not_provided . . 0.35563 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11093 226015 16 31110981 G A 227782 drug_response warfarin_response_-_Dosage . . 0.52556 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11094 128521 16 31121793 G A 133970 Benign not_specified 0.30291 0.38031 0.35923 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11095 318979 16 31191482 A G 334778 Benign Amyotrophic_Lateral_Sclerosis,_Dominant 0.94328 0.9846 0.9391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11096 259594 16 31193942 C A 255698 Benign Amyotrophic_lateral_sclerosis_type_6|not_speci... 0.21672 . 0.27895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11097 319004 16 31203529 G C 325136 Benign Amyotrophic_Lateral_Sclerosis,_Dominant . 0.42268 0.28175 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11098 319017 16 31204235 T C 334828 Benign Amyotrophic_Lateral_Sclerosis,_Dominant . 0.99944 0.99101 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11099 703789 16 46708574 TA T 695697 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11100 260386 16 46723598 T C 255745 Benign Meier-Gorlin_syndrome|not_specified|Parkinson_... 0.34123 0.42638 0.19409 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11101 257173 16 47684686 TATTA T 255752 Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11102 319385 16 47735030 G A 335120 Benign Glycogen_phosphorylase_kinase_deficiency . . 0.99641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11103 260529 16 49670390 A G 255766 Benign not_specified 0.21007 0.21653 0.20487 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11104 260538 16 49672520 A G 255777 Benign not_specified 0.57002 0.47961 0.57867 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11105 319429 16 50733859 C G 341616 Benign Blau_syndrome|Crohn_disease|not_specified 0.37088 . 0.24661 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11106 319450 16 50745583 T G 341634 Benign Blau_syndrome|Crohn_disease|not_specified 0.3358 0.33022 0.21605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11107 97869 16 50757276 G A 103761 Benign/Likely_benign Inflammatory_bowel_disease_1|Psoriatic_arthrit... 0.06902 0.06112 0.03335 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11108 319482 16 50766127 A C 325520 Benign Blau_syndrome|Crohn_disease . . 0.35823 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11109 319492 16 50766886 G A 335201 Benign Blau_syndrome|Crohn_disease . . 0.35224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11110 319586 16 51170434 CA C 335255 Benign Townes-Brocks_syndrome_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11111 258871 16 51171175 C T 255786 Benign Townes-Brocks_syndrome_1|not_specified 0.98838 0.99648 0.98682 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11112 667579 16 51171670 C T 668339 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11113 258866 16 51173559 G A 255790 Benign Townes-Brocks_syndrome_1|not_specified 0.49192 . 0.53874 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11114 319624 16 53634295 C T 343259 Likely_benign Nephronophthisis|Joubert_syndrome|Meckel-Grube... . . 0.47664 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11115 319634 16 53635251 A C 341775 Likely_benign Nephronophthisis|Joubert_syndrome|Meckel-Grube... . . 0.47704 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11116 319645 16 53635933 A T 335300 Likely_benign Nephronophthisis|Joubert_syndrome|Meckel-Grube... . . 0.47704 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11117 671910 16 53636409 C T 668775 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11118 319648 16 53644975 G GA 325647 Uncertain_significance Nephronophthisis|Joubert_syndrome|Meckel-Grube... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11119 95692 16 53656135 G C 101589 Benign/Likely_benign Nephronophthisis|Joubert_syndrome|Meckel-Grube... . 0.22552 0.13698 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11120 126276 16 53672355 C T 131808 Benign not_specified|not_provided 0.4036 0.3575 0.48463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11121 217824 16 53800954 T C 214481 risk_factor OBESITY_(BMIQ14),_SUSCEPTIBILITY_TO . . 0.22863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11122 319750 16 55519535 G C 341847 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_... 0.25677 0.30128 0.20008 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11123 319756 16 55523705 T C 335387 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_... 0.79932 0.83783 0.79992 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11124 319761 16 55527113 G A 343361 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_... 0.35919 . 0.32488 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11125 319766 16 55536687 A G 325751 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_... 0.44321 0.48409 0.48762 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11126 319768 16 55536727 C T 335392 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_... 0.36642 0.39504 0.30391 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11127 319769 16 55536763 C G 335396 Likely_benign Multicentric_Osteolysis-Nodulosis-Arthropathy_... 0.08102 . 0.03714 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11128 319776 16 55539614 A C 343362 Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_... . . 0.29892 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11129 319789 16 55690425 C T 325781 Likely_benign Orthostatic_intolerance . . 0.753 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11130 319803 16 55731835 G A 341872 Likely_benign Orthostatic_intolerance 0.25808 . 0.23343 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11131 319805 16 55731946 G A 335414 Likely_benign Orthostatic_intolerance 0.25754 0.30374 0.22943 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11132 319820 16 55736656 T C 335430 Uncertain_significance Orthostatic_intolerance . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11133 319821 16 55736659 C CA 335436 Likely_benign Orthostatic_intolerance . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11134 319842 16 55737656 G A 341888 Likely_benign Orthostatic_intolerance . . 0.89357 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11135 585942 16 56368689 C T 577548 Benign History_of_neurodevelopmental_disorder|not_pro... 0.39766 0.43836 0.4974 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11136 261981 16 56545175 T C 255825 Benign Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|... 0.19545 0.20924 0.26358 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11137 285261 16 56548501 C T 269498 Benign Bardet-Biedl_syndrome_2|not_specified|not_prov... . 0.99377 0.99641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11138 369114 16 56554016 A G 353343 Benign Bardet-Biedl_syndrome . . 0.99701 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11139 504886 16 56904587 C G 497694 Benign Familial_hypokalemia-hypomagnesemia|not_specified 0.97322 0.97557 0.99062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11140 255880 16 56917953 T C 255835 Benign Familial_hypokalemia-hypomagnesemia|not_specified 0.47492 0.45897 0.57069 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11141 319917 16 56936319 C T 341943 Benign/Likely_benign Familial_hypokalemia-hypomagnesemia 0.03447 0.03057 0.05232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11142 255891 16 56938387 C T 255845 Benign Familial_hypokalemia-hypomagnesemia|not_specified 0.34826 0.28717 0.33966 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11143 319924 16 56947522 A G 325868 Benign Familial_hypokalemia-hypomagnesemia . . 0.59125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11144 319930 16 56947721 C T 341960 Benign Familial_hypokalemia-hypomagnesemia . . 0.54094 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11145 319938 16 56947981 G C 343483 Benign Familial_hypokalemia-hypomagnesemia . . 0.59125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11146 319942 16 56948248 C T 325884 Benign Familial_hypokalemia-hypomagnesemia . . 0.5613 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11147 319951 16 56948841 C T 325898 Benign Familial_hypokalemia-hypomagnesemia . . 0.53994 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11148 319957 16 56949168 A G 325902 Benign Familial_hypokalemia-hypomagnesemia . . 0.5619 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11149 319984 16 57007353 C T 343503 Benign Hyperalphalipoproteinemia_1 0.07672 0.05355 0.05471 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11150 17525 16 57016092 G A 32564 Benign Hyperalphalipoproteinemia_1|High_density_lipop... . 0.61648 0.53395 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11151 320000 16 57017662 G A 325942 Benign Hyperalphalipoproteinemia_1 . . 0.15535 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11152 369116 16 57017762 C G 353345 Benign Hyperalphalipoproteinemia_1 . . 0.76617 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11153 683585 16 57481670 T C 668794 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11154 683587 16 57494178 T C 668355 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11155 320014 16 57494992 C A 325945 Likely_benign Coenzyme_Q10_deficiency,_primary . . 0.11641 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11156 320015 16 57495026 T C 325947 Benign Coenzyme_Q10_deficiency,_primary . . 0.99261 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11157 679870 16 57673122 C T 667748 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11158 683313 16 57689028 C T 669039 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11159 137493 16 57689385 C G 141196 Benign/Likely_benign not_specified|not_provided 0.60519 . 0.72085 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11160 158640 16 57689805 A C 169286 Benign not_specified|not_provided 0.20883 0.19978 0.11302 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11161 158641 16 57689883 T C 169287 Benign not_specified|not_provided 0.78447 0.75658 0.81669 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11162 158615 16 57691265 C A 169291 Benign not_specified 0.36696 . 0.29094 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11163 683315 16 57693055 C T 668636 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11164 681781 16 57693247 G A 668790 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11165 259865 16 57697532 T G 255850 Benign not_specified 0.76639 0.75644 0.84784 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11166 712324 16 57775651 C T 726711 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11167 320027 16 57916776 T G 335611 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.08566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11168 320028 16 57916835 A G 342033 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.10963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11169 320046 16 57917758 A G 342038 Likely_benign Retinitis_Pigmentosa,_Recessive . . 0.08946 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11170 320053 16 57918035 T C 335659 Likely_benign Retinitis_Pigmentosa,_Recessive 0.10436 0.072 0.08546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11171 320059 16 57921752 A G 326000 Benign/Likely_benign Retinitis_pigmentosa_45|Retinitis_Pigmentosa,_... 0.36797 0.31064 0.37021 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11172 194492 16 57974240 G A 191655 Benign/Likely_benign Retinitis_pigmentosa_45|not_specified|Retiniti... 0.43873 0.54304 0.40076 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11173 320109 16 57996932 G A 335733 Benign/Likely_benign Retinitis_pigmentosa_45|Retinitis_Pigmentosa,_... 0.36627 0.43042 0.3141 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11174 320110 16 57996960 C T 342070 Benign Retinitis_pigmentosa_45|Retinitis_Pigmentosa,_... 0.75496 . 0.752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11175 402549 16 58577315 GA G 390165 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11176 320206 16 68678638 C CAA,CA 343681 Benign EEM_syndrome . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
11177 320212 16 68678746 A G 343691 Benign EEM_syndrome . . 0.17093 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11178 677162 16 68712217 T C 668527 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11179 320227 16 68712730 C A 342177 Benign EEM_syndrome 0.18991 . 0.13978 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11180 320229 16 68713730 G A 326126 Benign EEM_syndrome|not_provided 0.6402 0.594 0.60783 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11181 320230 16 68713823 C A 343710 Benign EEM_syndrome|not_provided 0.64027 0.59396 0.60783 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11182 320243 16 68721470 T C 342183 Benign EEM_syndrome|not_provided 0.63604 0.58811 0.59744 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11183 320250 16 68725783 G A 342187 Benign EEM_syndrome|not_provided 0.62542 0.57856 0.57448 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11184 320258 16 68732457 G T 342193 Benign EEM_syndrome . . 0.8109 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11185 136692 16 68771372 C T 140395 Benign Hereditary_cancer-predisposing_syndrome|Heredi... 0.86033 0.81114 0.76338 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11186 676887 16 68847576 A G 668405 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11187 142770 16 68857441 T C 152484 Benign Hereditary_cancer-predisposing_syndrome|Heredi... 0.71614 0.65481 0.71865 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11188 320281 16 68867991 C T 326168 Benign Hereditary_diffuse_gastric_cancer . . 0.10304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11189 369122 16 68869449 A G 353351 Benign Hereditary_diffuse_gastric_cancer . . 0.99481 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11190 225971 16 69143577 A G 227789 drug_response anthracyclines_and_related_substances_response... 0.32641 . 0.34225 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11191 676109 16 69365123 G T 668529 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11192 96220 16 69373414 T C 102114 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.32437 . 0.25759 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11193 16809 16 69745145 G A 31848 drug_response Lung_cancer|Benzene_toxicity,_susceptibility_t... . 0.24516 0.28894 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11194 320325 16 70287177 A G 335871 Benign Charcot-Marie-Tooth_disease,_type_2|Charcot-Ma... 0.84918 0.8241 0.88119 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11195 676230 16 70299692 TGCCCATCAGAAAATCCA T 667573 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11196 803270 16 70531754 T G 791639 Benign Congenital_disorder_of_glycosylation_type_2J . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11197 95699 16 70546234 G A 101596 Benign Congenital_disorder_of_glycosylation|not_speci... 0.38181 0.4511 0.47025 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11198 380059 16 70548219 A T 377764 Benign not_specified 0.05725 0.06352 0.04633 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11199 95697 16 70548297 G A 101594 Benign Congenital_disorder_of_glycosylation|Congenita... 0.9556 0.94743 0.95947 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11200 402954 16 70954915 G T 390205 Benign not_specified 0.99374 . 0.999 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11201 402955 16 70972595 T C 390115 Benign Ciliary_dyskinesia,_primary,_5|not_specified . 0.61642 0.45387 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11202 808074 16 70986425 T C 797374 Uncertain_significance not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11203 402956 16 71015329 G T 390310 Benign not_specified . 0.40871 0.46725 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11204 402957 16 71163693 A G 390116 Benign not_specified . 0.38474 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11205 402958 16 71220755 A G 390175 Benign not_specified 0.04309 0.04117 0.01857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11206 402959 16 71264523 T A 390176 Benign not_specified . 0.37299 0.40535 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11207 320449 16 72058672 G T 336023 Benign Miller_syndrome . . 0.54453 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11208 320453 16 72058881 A G 326286 Benign Miller_syndrome . . 0.54373 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11209 320459 16 72059149 A G 336034 Benign Miller_syndrome . . 0.54493 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11210 320461 16 72059269 T C 336037 Benign Miller_syndrome . . 0.54393 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11211 768789 16 72110948 C G 703799 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11212 768791 16 72991715 A G 703805 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11213 320466 16 74747024 G C 326302 Benign Spastic_paraplegia_35 . . 0.2504 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11214 320477 16 74747451 C G 342319 Benign Spastic_paraplegia_35 . . 0.23782 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11215 129032 16 74750396 T C 134478 Benign/Likely_benign Spastic_paraplegia_35|not_specified 0.16936 0.11951 0.11601 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11216 129031 16 74750405 G A 134477 Benign Spastic_paraplegia_35|not_specified 0.78116 0.7732 0.72524 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11217 680134 16 74753079 C T 668415 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11218 129028 16 74808425 G A 134474 Benign Spastic_paraplegia_35|not_specified 0.3213 0.3587 0.249 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11219 369127 16 74808737 C G 353356 Benign Spastic_paraplegia_35|not_provided . . 0.6851 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11220 320505 16 75507094 C T 336068 Benign Macular_corneal_dystrophy_Type_I . . 0.65815 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11221 320507 16 75507253 T A 343959 Benign Macular_corneal_dystrophy_Type_I . . 0.79273 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11222 320519 16 75508173 A G 342351 Benign Macular_corneal_dystrophy_Type_I . . 0.38439 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11223 320520 16 75508234 A G 336084 Benign Macular_corneal_dystrophy_Type_I . . 0.51438 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11224 320527 16 75508720 C G 326345 Benign Macular_corneal_dystrophy_Type_I . . 0.54074 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11225 320531 16 75508797 G A 343972 Benign Macular_corneal_dystrophy_Type_I . . 0.46586 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11226 320539 16 75509312 CAG C 343978 Benign Macular_corneal_dystrophy_Type_I . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11227 320552 16 75510212 G A 342363 Benign Macular_corneal_dystrophy_Type_I . . 0.20787 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11228 320557 16 75510515 G C 336122 Benign Macular_corneal_dystrophy_Type_I . . 0.52177 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11229 320558 16 75510572 G A 326366 Benign Macular_corneal_dystrophy_Type_I . . 0.97664 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11230 320559 16 75510620 G A 342366 Benign Macular_corneal_dystrophy_Type_I . . 0.53195 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11231 320561 16 75510646 CT C 326370 Benign Macular_corneal_dystrophy_Type_I . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11232 320567 16 75510973 A C 326376 Benign Macular_corneal_dystrophy_Type_I . . 0.50799 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11233 320596 16 75512296 G GC 326392 Benign Macular_corneal_dystrophy_Type_I . . 0.55671 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11234 320611 16 75513243 G C 342409 Benign/Likely_benign Macular_corneal_dystrophy_Type_I 0.03868 . 0.01757 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11235 130591 16 75574030 C T 136037 Benign not_specified 0.04373 0.17402 0.27017 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11236 669396 16 75589407 G A 668419 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11237 130587 16 75590092 G C 136033 Benign Joubert_syndrome_20|not_specified 0.05809 0.28133 0.28914 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11238 803274 16 77401545 A G 791643 Benign Microcornea,_myopic_chorioretinal_atrophy,_and... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11239 670330 16 78148830 C T 667608 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11240 260738 16 78149067 A C 255878 Benign not_specified 0.23051 . 0.17592 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11241 670331 16 78149173 A C 668900 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11242 670333 16 78197911 T C 668429 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11243 260739 16 78198192 T C 255879 Benign not_specified|not_provided 0.74345 0.74821 0.78914 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11244 586944 16 78312497 C A 577569 Benign not_provided 0.46197 0.45947 0.47224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11245 260740 16 78420775 G A 255880 Benign Epileptic_encephalopathy,_early_infantile,_1|n... 0.45934 . 0.26338 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11246 668842 16 78421128 G C 667618 Likely_benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11247 540240 16 78658393 T G 530280 Benign not_provided . . 0.50399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11248 670869 16 79245465 T C 668476 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11249 682664 16 81348396 G T 668481 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11250 673442 16 81348484 A G 668624 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11251 680312 16 81349106 T G 668955 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11252 680313 16 81385525 C T 668634 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11253 682665 16 81387727 A G 668635 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11254 682666 16 81395801 C T 668483 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11255 680740 16 81395918 A G 668637 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11256 637432 16 81396287 C T 625349 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11257 669768 16 81397079 G GA 667627 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11258 681702 16 81397166 T C 668490 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11259 682667 16 81397804 T C 668494 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11260 680741 16 81398520 G A 668639 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11261 129131 16 81398635 C T 134577 Benign Giant_axonal_neuropathy_1|not_specified 0.22978 0.19544 0.15116 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11262 681715 16 81399305 G A 668501 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11263 320664 16 81411282 T C 336177 Likely_benign Giant_axonal_neuropathy_1 . . 0.01298 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11264 320668 16 81411448 G A 344092 Benign Giant_axonal_neuropathy_1 . . 0.6276 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11265 320674 16 81411673 C G 336184 Benign Giant_axonal_neuropathy_1 . . 0.67113 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11266 320678 16 81411793 T A 342450 Benign Giant_axonal_neuropathy_1 . . 0.64177 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11267 320683 16 81412168 G A 336191 Benign Giant_axonal_neuropathy_1 . . 0.30551 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11268 320688 16 81412469 C T 326450 Uncertain_significance Giant_axonal_neuropathy_1 . . 0.002 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11269 403316 16 81819768 T C 390119 Benign not_specified 0.66799 0.72477 0.73323 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11270 403317 16 81888152 A G 390125 Benign not_specified 0.25572 . 0.21206 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11271 403318 16 81892708 T A 390128 Benign not_specified 0.55696 0.55093 0.54113 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11272 403320 16 81929488 C T 390208 Benign not_specified 0.28848 0.4158 0.40655 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11273 403322 16 81941319 C T 390314 Benign not_specified 0.72252 . 0.77496 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11274 403323 16 81954789 C G 390182 Benign not_specified 0.46815 . 0.51977 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11275 403324 16 81971403 T C 390147 Benign not_specified 0.4056 0.44867 0.3139 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11276 257644 16 82673047 C T 255899 Benign not_specified . 0.99593 0.9387 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11277 257649 16 83065664 G A 255902 Benign not_specified 0.55346 . 0.53415 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11278 257647 16 83817019 A G 255908 Benign not_specified 0.81491 0.81078 0.81609 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11279 95501 16 83933296 T C 101400 Benign Deficiency_of_malonyl-CoA_decarboxylase|not_sp... 0.96756 . 0.95707 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11280 768800 16 84070514 A C 778222 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11281 291145 16 84075563 C A 275382 Benign not_specified 0.56769 . 0.58506 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11282 163086 16 84209634 C G 176164 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.51069 0.52799 0.53175 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11283 262933 16 84211483 C T 255935 Benign Primary_ciliary_dyskinesia|not_specified 0.49131 0.51063 0.5018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11284 402596 16 84213434 A T 390214 Benign not_specified 0.30972 0.40075 0.32029 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11285 320801 16 86546887 T C 336334 Benign Persistent_fetal_circulation . . 0.85024 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11286 320809 16 86547153 A AT 336352 Benign Persistent_fetal_circulation . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11287 320818 16 86547355 A G 344175 Benign Persistent_fetal_circulation . . 0.81789 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11288 320822 16 86547496 C T 344178 Benign Persistent_fetal_circulation . . 0.52736 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11289 320831 16 86547855 CTT CT,C 344180 Benign Persistent_fetal_circulation . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
11290 379947 16 87960560 A T 375545 Benign not_specified|not_provided 0.43753 0.42988 0.27796 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11291 193177 16 88494947 T C 190342 Benign Brittle_cornea_syndrome_1|not_specified . 0.98273 0.98902 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11292 193178 16 88494976 A C 190343 Benign Brittle_cornea_syndrome_1|not_specified . . 0.85503 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11293 320866 16 88495407 G C 336441 Benign Brittle_cornea_syndrome_1|not_specified . 0.99955 0.99161 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11294 320872 16 88495654 A G 336442 Benign Brittle_cornea_syndrome_1|not_specified . 0.94436 0.8748 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11295 193173 16 88497031 T C 190338 Benign Brittle_cornea_syndrome_1|not_specified . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11296 285444 16 88497400 G A 269681 Benign Brittle_cornea_syndrome_1|not_specified . 0.96031 0.90256 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11297 285445 16 88497446 A G 269682 Benign Brittle_cornea_syndrome_1|not_specified 0.814 0.90217 0.81889 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11298 281205 16 88498221 C T 265442 Benign Brittle_cornea_syndrome_1|not_specified 0.87725 0.87483 0.84425 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11299 285042 16 88498297 T G 269279 Benign Brittle_cornea_syndrome_1|not_specified 0.83969 0.92777 0.84645 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11300 320943 16 88499539 C G 336479 Benign Brittle_cornea_syndrome_1|not_specified 0.81966 0.86478 0.77955 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11301 288513 16 88502482 C T 272750 Benign Brittle_cornea_syndrome_1|not_specified . 0.53451 0.47005 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11302 195125 16 88502505 A G 192286 Benign Brittle_cornea_syndrome_1|not_specified 0.99518 0.99834 0.99621 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11303 195114 16 88504868 A G 192275 Benign Brittle_cornea_syndrome_1|not_specified 0.99978 0.99981 0.9992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11304 321031 16 88505635 A G 326742 Benign Brittle_cornea_syndrome_1|not_specified 0.77566 0.78855 0.79633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11305 321034 16 88505734 C T 336532 Benign Brittle_cornea_syndrome_1|not_specified 0.98795 0.99574 0.98722 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11306 321047 16 88506287 G GGCCTCCTCCCTCTGACCACAGGGTCAT 342833 Benign Brittle_cornea_syndrome_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11307 321051 16 88506358 T G 342834 Benign Brittle_cornea_syndrome_1 . . 0.94728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11308 321056 16 88506528 G A 342835 Benign Brittle_cornea_syndrome_1 . . 0.98622 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11309 321059 16 88506599 AT A 336547 Benign Brittle_cornea_syndrome_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11310 321064 16 88506741 A G 344469 Benign Brittle_cornea_syndrome_1 . . 0.84086 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11311 198042 16 88709828 A G 195203 Benign not_specified 0.68469 0.68923 0.73742 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11312 2263 16 88713236 A G 17302 Benign CYBA_POLYMORPHISM|Very_early_onset_inflammator... . 0.69083 0.66434 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11313 196207 16 88713501 A G 193368 Benign not_specified 0.43995 0.48207 0.36601 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11314 440040 16 88782676 A G 433792 Benign not_specified . 0.88956 0.86781 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11315 440041 16 88783449 C G 433793 Benign not_specified 0.63141 0.59224 0.6857 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11316 440048 16 88783521 T C 433800 Benign not_specified 0.9067 0.89648 0.89197 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11317 440055 16 88786063 C T 433807 Benign not_specified 0.0276 0.05393 0.03614 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11318 440049 16 88787704 G C 433801 Benign not_specified 0.87812 . 0.85244 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11319 381268 16 88788477 A G 377889 Benign not_specified . 0.83165 0.85963 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11320 440050 16 88792047 A G 433802 Benign not_specified 0.90473 0.85098 0.8726 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11321 440042 16 88792097 A G 433794 Benign not_specified 0.90407 0.84915 0.8722 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11322 440058 16 88800913 C T 433810 Benign not_specified . 0.10017 0.10543 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11323 440039 16 88803124 T C 433791 Benign not_specified 0.3507 0.32428 0.43031 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11324 440051 16 88803982 C G 433803 Benign not_specified . 0.6942 0.75719 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11325 440054 16 88804349 G T 433806 Benign not_specified . . 0.03834 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11326 440043 16 88804734 A G 433795 Benign Lymphedema,_hereditary,_III|not_specified 0.85933 0.7823 0.82029 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11327 440046 16 88808743 A G 433798 Benign not_specified 0.90337 0.86619 0.90935 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11328 440047 16 88851310 A C 433799 Benign not_specified . 0.3363 0.29932 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11329 128680 16 88872145 T C 134129 Benign Meier-Gorlin_syndrome_4|not_specified 0.99954 0.99934 0.9998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11330 128683 16 88872511 T C 134132 Benign Meier-Gorlin_syndrome_4|not_specified 0.84765 0.81834 0.87021 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11331 388732 16 89165169 T C 375615 Uncertain_significance not_provided . 0.00065 0.0012 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11332 203598 16 89167075 C CCCCAGGAGGCTCCCGGGAG 200301 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11333 136269 16 89167094 T C 139972 Benign not_specified . 0.69985 0.6244 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11334 136271 16 89167140 G C 139974 Benign not_specified 0.91518 . 0.84924 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11335 136272 16 89167395 C T 139975 Benign not_specified 0.72415 0.70719 0.61901 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11336 136273 16 89167404 T C 139976 Benign not_specified 0.72469 0.70778 0.61981 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11337 136274 16 89167431 G C 139977 Benign not_specified 0.72245 0.7105 0.61981 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11338 136275 16 89167443 T C 139978 Benign not_specified 0.72545 0.7106 0.61981 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11339 136276 16 89167458 C A 139979 Benign not_specified . . 0.61921 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11340 439364 16 89178474 T C 433338 Benign Combined_malonic_and_methylmalonic_aciduria . 0.05429 . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11341 128641 16 89256695 G A 134090 Likely_benign not_specified 0.1532 0.19386 0.17552 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11342 128646 16 89258747 A C 134095 Benign not_specified 0.28921 0.49917 0.45308 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11343 128647 16 89259993 A G 134096 Likely_benign not_specified 0.39601 0.50741 0.4998 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11344 587797 16 89350038 G A 580427 Benign Autism_spectrum_disorder 0.69701 0.63785 0.53355 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11345 707161 16 89350658 C T 693969 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11346 670118 16 89576663 G A 667657 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11347 669572 16 89579076 A G 668688 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11348 670123 16 89579123 G A 668692 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11349 670124 16 89590243 G A 668549 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11350 258910 16 89590667 T C 255958 Benign Spastic_paraplegia_7|not_specified|Spastic_Par... 0.43652 0.47715 0.52935 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11351 671136 16 89593198 C T 668714 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11352 670125 16 89595723 G A 668716 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11353 258911 16 89597221 A G 255959 Benign Spastic_paraplegia_7|not_specified|Spastic_Par... 0.43744 . 0.52935 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11354 670126 16 89599241 C T 667663 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11355 669951 16 89599352 G T 668551 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11356 684094 16 89603586 A G 668720 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11357 130369 16 89613123 A G 135816 Benign/Likely_benign Spastic_paraplegia_7|not_specified|Spastic_Par... 0.14112 0.15071 0.10643 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11358 670128 16 89613373 G A 668563 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11359 670129 16 89613412 T C 669000 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11360 667498 16 89616558 T C 668565 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11361 671694 16 89616725 C T 668722 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11362 130370 16 89620328 G A 135817 Benign/Likely_benign Spastic_paraplegia_7|not_specified|Spastic_Par... 0.14099 0.15091 0.10583 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11363 321297 16 89623990 C CCACA 326827 Likely_benign Spastic_Paraplegia,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11364 680112 16 89713174 C T 669003 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11365 680104 16 89715648 G A 667705 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11366 679125 16 89716140 T C 668737 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11367 668086 16 89717711 G A 667711 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11368 14311 16 89985844 G T 29350 Benign Skin/hair/eye_pigmentation_2,_blond_hair/fair_... . 0.08321 0.03534 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11369 670259 16 90000925 T C 667719 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11370 402891 16 90102835 A G 390188 Benign not_specified 0.40405 0.32401 0.26438 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11371 402894 16 90109711 A G 390321 Benign not_specified 0.82918 . 0.84425 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11372 667586 17 455451 C A 669450 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11373 380878 17 465775 G A 378523 Benign not_specified 0.33423 0.27844 0.34864 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11374 667585 17 534525 T G 669170 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11375 670837 17 556884 A G 669005 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11376 670836 17 600502 C T 668251 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11377 380877 17 600735 A G 375663 Benign not_specified 0.18814 0.18626 0.22105 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11378 667584 17 601018 C A 669547 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11379 669397 17 602261 G T 669304 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11380 670835 17 602469 G C 669307 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11381 671930 17 613501 A C 669310 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11382 670268 17 618039 G A 656467 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11383 671876 17 618408 C A 669560 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11384 768812 17 1132706 C G 703962 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11385 260033 17 1265325 T A 256080 Benign not_specified 0.28412 0.41415 0.36262 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11386 508101 17 1373518 T C 505951 Benign not_specified 0.7901 0.72522 0.71166 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11387 508100 17 1373612 C T 505952 Benign not_specified 0.93675 0.86323 0.82089 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11388 508157 17 1387472 C T 505968 Benign not_specified 0.12979 0.1117 0.06629 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11389 683015 17 1388973 C T 669145 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11390 321889 17 1576369 C T 337224 Likely_benign Retinitis_Pigmentosa,_Dominant 0.32816 0.21714 0.27356 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11391 321898 17 1578939 C T 343473 Likely_benign Retinitis_Pigmentosa,_Dominant 0.31132 0.21293 0.26158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11392 321906 17 1580929 G C 343496 Likely_benign Retinitis_Pigmentosa,_Dominant 0.32862 0.217 0.27236 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11393 321915 17 1584324 A G 343505 Likely_benign Retinitis_Pigmentosa,_Dominant 0.32946 0.21736 0.27217 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11394 321917 17 1585130 A G 343509 Likely_benign Retinitis_Pigmentosa,_Dominant 0.28971 0.18707 0.2504 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11395 130734 17 1630208 C T 136180 Likely_benign not_specified . 0.26062 0.23323 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11396 130735 17 1630395 T C 136181 Likely_benign not_specified 0.22962 0.26975 0.26717 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11397 130736 17 1630584 A G 136182 Likely_benign not_specified 0.26567 0.27743 0.29852 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11398 130739 17 1636934 A G 136185 Likely_benign not_specified 0.23613 0.28112 0.27895 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11399 130740 17 1637074 A G 136186 Likely_benign not_specified 0.52418 0.51635 0.53954 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11400 130741 17 1637302 A G 136187 Benign/Likely_benign Cerebellar_ataxia,_mental_retardation,_and_dys... 0.72297 0.7526 0.76238 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11401 130744 17 1639458 A G 136190 Likely_benign not_specified 0.69379 0.73422 0.71765 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11402 674942 17 1673104 G A 668879 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11403 322000 17 1673276 C T 337339 Benign Osteogenesis_imperfecta,_type_VI|not_specified... 0.71183 0.61882 0.6262 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11404 667593 17 1674605 T C 668883 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11405 667594 17 1674687 T C 668885 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11406 674943 17 1675127 C T 668893 Benign Osteogenesis_imperfecta,_type_VI|not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11407 674945 17 1675451 T C 667837 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11408 674946 17 1678256 G C 669188 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11409 674948 17 1679805 A G 669190 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11410 322012 17 1680002 T C 343606 Benign Osteogenesis_imperfecta,_type_VI|not_specified... 0.77011 0.72924 0.77676 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11411 667540 17 2573173 A G 668929 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11412 159528 17 2573652 C T 169359 Benign not_specified|not_provided 0.88728 0.91485 0.89237 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11413 667794 17 2573858 C T 668773 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11414 674160 17 2577091 C T 668778 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11415 667542 17 2579453 T C 669231 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11416 673026 17 2584946 G A 668938 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11417 42175 17 2585113 C T 51341 Benign Lissencephaly_1|not_specified|Lissencephaly/Su... 0.20729 0.21204 0.13858 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11418 322281 17 2586229 A G 345238 Benign Lissencephaly/Subcortical_Band_Heterotopia . . 0.83666 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11419 322300 17 2587326 G A 343787 Likely_benign Lissencephaly/Subcortical_Band_Heterotopia . . 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11420 322332 17 2588722 TAA T 343814 Uncertain_significance Lissencephaly/Subcortical_Band_Heterotopia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11421 322681 17 3414135 T G 328033 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.14058 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11422 322682 17 3414160 T C 344101 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.43431 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11423 322692 17 3414774 T C 337867 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.94329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11424 322694 17 3414859 C T 344105 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.94249 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11425 322696 17 3414939 A G 345500 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.84545 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11426 322699 17 3415096 C T 345504 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.94229 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11427 322701 17 3415118 G A 337879 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.13978 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11428 322709 17 3415370 G T 344111 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.94509 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11429 322719 17 3415646 A G 344115 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.13958 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11430 322720 17 3415678 T G 345531 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.43411 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11431 322723 17 3415982 C G 337891 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.90575 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11432 322728 17 3416172 A G 337904 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.5649 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11433 322730 17 3416271 C T 345539 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.92093 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11434 322731 17 3416309 A C 328071 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.36701 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11435 322735 17 3416555 C A 337920 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.46805 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11436 322741 17 3417123 C T 337926 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.99601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11437 322788 17 3445901 T G 337972 Benign Palmoplantar_keratoderma,_mutilating,_with_per... 0.51469 . 0.57907 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11438 322795 17 3447914 C T 345570 Benign Palmoplantar_keratoderma,_mutilating,_with_per... 0.58619 0.64045 0.66254 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11439 322796 17 3448453 G A 344159 Benign/Likely_benign Palmoplantar_keratoderma,_mutilating,_with_per... 0.01038 0.00922 0.00319 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11440 322799 17 3458072 T C 345577 Benign Palmoplantar_keratoderma,_mutilating,_with_per... 0.998 0.99943 0.9972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11441 322806 17 3461157 C T 328144 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.26797 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11442 322811 17 3461236 T C 328145 Benign Palmoplantar_keratoderma,_mutilating,_with_per... . . 0.69229 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11443 791431 17 3495465 C T 715392 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11444 189125 17 3504326 A G 186968 Benign Nephropathic_cystinosis . . 0.86122 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11445 558924 17 3558417 C G 549742 Benign not_provided 0.86345 0.9538 0.84525 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11446 683626 17 3558698 G A 667876 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11447 257157 17 3561396 C T 256153 Benign Nephropathic_cystinosis|Cystinosis|not_specifi... 0.83492 0.91828 0.81829 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11448 257152 17 3563963 C G 256155 Benign Nephropathic_cystinosis|Cystinosis|not_specifi... 0.19045 0.25142 0.22863 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11449 322892 17 3565103 A G 345655 Benign Nephropathic_cystinosis|Cystinosis . . 0.74201 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11450 322899 17 3565332 C T 328216 Uncertain_significance Nephropathic_cystinosis|Cystinosis . . 0.00759 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11451 322913 17 3565969 T C 328225 Benign Nephropathic_cystinosis|Cystinosis . . 0.63838 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11452 322914 17 3566045 T TC 328229 Benign Nephropathic_cystinosis|Cystinosis . . 0.76757 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11453 322920 17 3566232 C T 328241 Benign Nephropathic_cystinosis|Cystinosis . . 0.36162 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11454 403283 17 3594276 TG T 390187 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11455 768821 17 3664477 A AATT 778471 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11456 721195 17 3801182 G A 731146 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11457 226006 17 4836381 C T 227792 drug_response not_specified|aspirin_response_-_Efficacy 0.12316 0.09796 0.13159 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11458 255467 17 4837210 A G 256260 Benign not_specified . 0.15348 0.84225 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11459 324134 17 4854480 C T 339128 Benign Glycogen_storage_disease_type_13|not_specified . . 0.32608 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11460 324136 17 4856376 A G 346462 Benign Glycogen_storage_disease_type_13|not_specified... 0.66908 0.64928 0.5641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11461 324138 17 4856580 T C 339134 Benign Glycogen_storage_disease_type_13|not_specified... 0.4501 0.46061 0.30391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11462 403467 17 4863410 A G 390198 Benign not_specified 0.8471 0.78382 0.70288 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11463 682849 17 4904376 T A 669096 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11464 516675 17 4906146 GCC G 506467 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11465 682850 17 4907103 G A 669100 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11466 424675 17 4908241 G A 411591 Conflicting_interpretations_of_pathogenicity Hereditary_spastic_paraplegia|not_specified|no... 0.00331 0.00351 0.0006 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11467 380828 17 4924097 C G 378498 Benign not_specified 0.06735 0.11172 0.0629 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11468 380827 17 4926882 A G 376339 Benign not_specified 0.66436 0.71428 0.67512 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11469 684053 17 4936972 G A 656452 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11470 684048 17 4937575 T C 656453 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11471 403240 17 5425077 T C 390199 Benign not_specified 0.48262 0.45485 0.41793 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11472 4163 17 5485367 A T 19202 risk_factor Vitiligo-associated_multiple_autoimmune_diseas... . 0.37495 0.19209 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11473 324569 17 6327212 C T 339690 Likely_benign Leber_congenital_amaurosis|Retinitis_Pigmentos... . . 0.04712 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11474 324577 17 6327389 G A 339707 Likely_benign Leber_congenital_amaurosis|Retinitis_Pigmentos... . . 0.12121 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11475 324579 17 6327491 C T 329421 Likely_benign Leber_congenital_amaurosis|Retinitis_Pigmentos... . . 0.07508 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11476 324587 17 6327771 T C 339716 Likely_benign Leber_congenital_amaurosis|Retinitis_Pigmentos... . . 0.19649 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11477 324594 17 6328174 C T 339722 Likely_benign Leber_congenital_amaurosis|Retinitis_Pigmentos... . . 0.61562 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11478 99805 17 6330068 T C 105694 Benign/Likely_benign Leber_congenital_amaurosis|not_specified|Retin... 0.73866 0.72498 0.71366 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11479 166655 17 6331803 T C 177472 Benign/Likely_benign Leber_congenital_amaurosis|not_specified|Retin... 0.60526 0.63459 0.57588 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11480 99789 17 6337404 G A 105678 Likely_benign Leber_congenital_amaurosis|Retinitis_Pigmentos... 0.02107 0.02192 0.00619 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11481 324659 17 6355102 GT G 345498 Benign Cone-Rod_Dystrophy,_Dominant . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11482 324663 17 6355193 AC A 345511 Uncertain_significance Cone-Rod_Dystrophy,_Dominant . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11483 324671 17 6355212 C CA 346833 Uncertain_significance Cone-Rod_Dystrophy,_Dominant . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11484 324683 17 6355419 G A 339763 Benign Cone-Rod_Dystrophy,_Dominant . . 0.33307 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11485 324731 17 6358017 G A 339793 Benign Cone-Rod_Dystrophy,_Dominant . . 0.70567 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11486 324732 17 6358075 A AC 339795 Benign Cone-Rod_Dystrophy,_Dominant . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11487 324737 17 6358174 A G 346872 Benign Cone-Rod_Dystrophy,_Dominant . . 0.4367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11488 261946 17 6364753 A G 256341 Benign not_specified|Cone-Rod_Dystrophy,_Dominant|not... 0.88905 0.86871 0.91394 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11489 667465 17 6604708 T G 669067 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11490 672845 17 6606576 C T 668237 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11491 667464 17 6606748 C T 669271 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11492 668854 17 6606933 A G 668239 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11493 670097 17 6606976 G T 669068 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11494 672844 17 6606995 C T 669070 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11495 670096 17 6607018 G A 669288 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11496 670095 17 6607031 C CT 669076 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11497 672896 17 6610536 A G 669535 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11498 786837 17 7004906 G A 715660 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11499 166637 17 7123240 T TGGGCGTGCAGGACGC 177462 Benign Very_long_chain_acyl-CoA_dehydrogenase_deficie... 0.45172 . 0.46785 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11500 92277 17 7127718 T C 98188 Benign Very_long_chain_acyl-CoA_dehydrogenase_deficie... 0.56175 0.60003 0.51977 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11501 679141 17 7350544 G A 669333 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11502 128752 17 7350975 T C 134201 Benign/Likely_benign not_specified|Congenital_Myasthenic_Syndrome,_... 0.14862 0.1748 0.1873 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11503 256772 17 7358803 G A 256403 Benign not_specified|not_provided 0.96709 0.99088 0.96705 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11504 679143 17 7358861 T C 669339 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11505 256773 17 7359277 T C 256404 Benign not_specified 0.14563 0.1756 0.18291 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11506 325109 17 7360110 T C 345778 Benign Congenital_Myasthenic_Syndrome,_Dominant/Reces... . . 0.30571 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11507 325112 17 7360323 T C 345779 Likely_benign Congenital_Myasthenic_Syndrome,_Dominant/Reces... . . 0.18191 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11508 325511 17 7487108 A G 345999 Likely_benign Congenital_disorder_of_glycosylation . . 0.24062 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11509 325524 17 7491177 G T 330041 Benign Congenital_disorder_of_glycosylation . 0.80947 0.68191 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11510 325623 17 7572101 C T 340457 Likely_benign Li-Fraumeni_syndrome . . 0.05711 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11511 256603 17 7578115 T C 256462 Benign not_specified . . 0.83367 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11512 440348 17 7578645 C T 433983 Benign not_specified . . 0.84285 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11513 803309 17 7578711 CTTT C 791833 Likely_benign Squamous_cell_carcinoma_of_the_head_and_neck . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11514 695142 17 7578837 A G 685438 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11515 256604 17 7579619 G T 256464 Benign not_specified 0.07081 0.06587 0.07768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11516 260999 17 7606722 C G 256472 Benign not_specified|Dyskeratosis_Congenita,_Recessive 0.39559 . 0.51118 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11517 402705 17 7630505 T C 390368 Benign not_specified 0.14993 0.12992 0.08626 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11518 402707 17 7673928 C G 390242 Benign not_specified 0.27749 . 0.35803 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11519 402708 17 7680159 G A 390253 Benign not_specified 0.24835 0.24234 0.12041 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11520 402709 17 7681412 C G 390245 Benign not_specified 0.79217 0.87417 0.76138 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11521 402710 17 7700712 C T 390251 Benign not_specified 0.52053 0.60273 0.53395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11522 402712 17 7721030 G A 390252 Benign not_specified 0.30255 0.28049 0.17133 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11523 402713 17 7722365 C T 390255 Benign not_specified 0.64985 0.60587 0.61102 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11524 9353 17 7906519 G T 24392 Benign Leber_congenital_amaurosis_1|not_specified|not... . 0.52114 0.41594 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11525 257554 17 7983969 G C 256545 Benign Congenital_ichthyosiform_erythroderma|not_spec... 0.40935 0.37597 0.45447 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11526 325934 17 7990915 A G 340784 Benign Congenital_ichthyosiform_erythroderma . . 0.38139 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11527 325949 17 7999589 T G 330553 Benign Congenital_ichthyosiform_erythroderma . . 0.48203 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11528 325991 17 8129160 A G 346455 Benign Dyskeratosis_Congenita,_Recessive . . 0.33307 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11529 128861 17 8132763 T C 134309 Benign not_specified|Dyskeratosis_Congenita,_Recessive 0.80087 0.75086 0.66354 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11530 128860 17 8135061 T C 134308 Benign not_specified|Dyskeratosis_Congenita,_Recessive 0.95301 0.95074 0.9373 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11531 261822 17 8141707 T C 256553 Benign not_specified|Dyskeratosis_Congenita,_Recessive . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11532 129893 17 8792029 A G 135339 Benign not_specified 0.50215 0.41079 0.44349 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11533 129894 17 8792514 G A 135340 Benign not_specified 0.50261 0.4103 0.44269 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11534 692209 17 8932082 C T 679951 Uncertain_significance Nonsyndromic_cleft_lip_with_or_without_cleft_p... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11535 129678 17 10297658 A G 135124 Benign/Likely_benign Hecht_syndrome|not_specified 0.62973 0.50958 0.48542 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11536 129674 17 10304261 G A 135120 Benign/Likely_benign Hecht_syndrome|not_specified 0.61964 0.50249 0.47364 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11537 129680 17 10318636 A G 135126 Benign/Likely_benign Hecht_syndrome|not_specified 0.85668 0.9224 0.86242 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11538 258701 17 10532884 G A 256041 Benign not_specified . . 0.51418 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11539 258698 17 10533595 C CT 256045 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58588 0.64132 0.51358 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11540 258694 17 10535100 C A 256046 Likely_benign not_specified 0.04513 0.03598 0.04054 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11541 258691 17 10535349 C G 256048 Benign not_specified 0.79842 . 0.72384 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11542 258690 17 10535761 G A 256049 Benign not_specified 0.58119 0.60951 0.46685 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11543 129663 17 10536018 G A 135109 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58381 0.60895 0.46965 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11544 129658 17 10541515 C T 135104 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.71629 0.69018 0.58646 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11545 129656 17 10542471 T G 135102 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58166 . 0.46645 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11546 129653 17 10542765 A G 135099 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58196 0.6094 0.46645 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11547 258676 17 10542803 T C 256059 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58196 0.60885 0.46645 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11548 129652 17 10542886 T C 135098 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58204 0.60852 0.46625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11549 129651 17 10543385 T C 135097 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.06966 0.04291 0.0617 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11550 129650 17 10543463 T C 135096 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58204 0.60852 0.46645 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11551 258673 17 10544018 T C 256062 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58219 0.61399 0.46665 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11552 129649 17 10544416 G T 135095 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.58173 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11553 129648 17 10544461 G A 135094 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... 0.06974 0.04292 0.0617 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11554 321752 17 10544696 GA GAA,G 337081 Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
11555 258671 17 10546130 T G 256063 Benign/Likely_benign Arthrogryposis_multiplex_congenita|Freeman-She... . . 0.52596 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11556 258668 17 10548992 C T 256066 Benign not_specified 0.58158 0.6075 0.46605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11557 258667 17 10549184 G A 256067 Benign not_specified 0.58142 0.60732 0.46426 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11558 258695 17 10553046 A G 256072 Benign not_specified 0.65093 0.65051 0.52576 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11559 258682 17 10555028 G A 256077 Benign not_specified 0.58142 0.60762 0.46406 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11560 321780 17 10583714 G C 344879 Benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... . . 0.47784 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11561 321785 17 10584116 C T 344888 Benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11562 683702 17 10595024 C T 668791 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11563 676257 17 10596380 G A 668646 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11564 683701 17 10599304 T C 668648 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11565 402773 17 11511457 C T 390159 Benign not_specified 0.34599 0.45216 0.44329 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11566 402776 17 11583089 T C 390325 Benign not_specified 0.96832 0.97219 0.94788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11567 402777 17 11648332 C T 390327 Benign not_specified 0.73589 0.7938 0.77017 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11568 402778 17 11651057 A G 390221 Benign not_specified 0.21613 0.22134 0.22464 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11569 402780 17 11737941 C T 390330 Benign not_specified 0.30917 0.34686 0.35344 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11570 402782 17 11757556 C G 390174 Benign not_specified 0.39605 . 0.40355 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11571 402783 17 11786951 T C 390235 Benign not_specified 0.40604 0.45283 0.38598 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11572 402786 17 11835321 C T 390179 Benign not_specified 0.16062 0.18015 0.16374 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11573 402788 17 11865462 G A 390186 Benign not_specified 0.16093 0.18408 0.16014 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11574 674688 17 12896553 C T 668792 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11575 379967 17 12920260 A G 378068 Benign not_specified 0.27234 0.2716 0.20847 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11576 683498 17 12921645 T C 668830 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11577 683497 17 12921672 G A 668832 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11578 321803 17 13972811 G A 343328 Benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... . . 0.99561 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11579 137005 17 13972955 C T 140708 Benign/Likely_benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... 0.04829 0.05946 0.03315 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11580 669477 17 13973131 T C 667774 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11581 672514 17 13979767 A AT 668839 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11582 137006 17 13980058 A T 140709 Benign/Likely_benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... 0.0499 0.07646 0.0615 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11583 137009 17 13980350 G A 140712 Benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... 0.49039 0.49447 0.46386 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11584 137003 17 14005439 G A 140706 Benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... 0.55551 0.52231 0.49181 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11585 683592 17 14062974 G A 669120 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11586 136995 17 14095309 A G 140698 Benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... 0.55344 0.58497 0.54832 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11587 321822 17 14110827 G A 327302 Likely_benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... . . 0.20168 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11588 321839 17 14111608 C T 343366 Likely_benign Leigh_syndrome|Hepatic_failure,_early-onset,_a... . . 0.20188 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11589 321853 17 15133705 CAG C 343376 Likely_benign Hereditary_liability_to_pressure_palsies|Charc... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11590 321859 17 15134175 T G 343380 Benign Hereditary_liability_to_pressure_palsies|Charc... . 0.53508 0.59545 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11591 677066 17 15142588 G A 667803 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11592 633487 17 15162389 T C 621914 Benign Charcot-Marie-Tooth_disease,_type_I 0.60511 0.55019 0.61042 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11593 667505 17 15906912 G A 668869 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11594 321969 17 15932071 C CTT 343401 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_... . 0.49303 0.49441 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11595 321984 17 15932627 T C 337188 Likely_benign Mitochondrial_complex_III_deficiency,_nuclear_... . 0.44622 0.36741 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11596 321990 17 16229232 A G 343431 Benign Coloboma,_Congenital_Heart_Disease,_Ichthyosif... 0.39428 0.41399 0.26737 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11597 36879 17 16855878 C T 45540 Benign Common_variable_immunodeficiency_2|not_specifi... 0.80963 0.81119 0.89956 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11598 322033 17 17115566 A G 343533 Benign Spontaneous_pneumothorax|Multiple_fibrofollicu... . . 0.71306 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11599 322048 17 17116412 A G 337305 Benign Spontaneous_pneumothorax|Multiple_fibrofollicu... . . 0.71066 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11600 96468 17 17122327 G A 102362 Benign Spontaneous_pneumothorax|Multiple_fibrofollicu... 0.4491 0.50234 0.503 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11601 96486 17 17127471 G A 102380 Benign Spontaneous_pneumothorax|Multiple_fibrofollicu... 0.37381 0.48408 0.40515 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11602 322082 17 17140297 G A 343588 Benign Spontaneous_pneumothorax|Multiple_fibrofollicu... . . 0.42832 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11603 322087 17 17140485 C G 337331 Benign Spontaneous_pneumothorax|Multiple_fibrofollicu... . . 0.74321 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11604 96183 17 17696531 G C 102077 Benign Smith-Magenis_syndrome|History_of_neurodevelop... 0.41218 0.48818 0.66693 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11605 96194 17 17696755 C A 102088 Benign Smith-Magenis_syndrome|History_of_neurodevelop... 0.33715 0.44167 0.5637 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11606 167558 17 17698099 G A 177998 Uncertain_significance not_provided 0.00023 0.00019 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11607 96179 17 17698254 G A 102073 Benign Smith-Magenis_syndrome|History_of_neurodevelop... 0.60111 0.50691 0.39976 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11608 96195 17 17707105 T C 102089 Benign Smith-Magenis_syndrome|History_of_neurodevelop... 0.4358 0.42141 0.24062 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11609 669691 17 17922280 G A 669203 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11610 669688 17 17924868 A G 668760 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11611 322102 17 18021882 T C 345134 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.60743 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11612 322106 17 18022039 A C 343645 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.60703 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11613 195315 17 18023897 G A 192476 Benign/Likely_benign Deafness,_autosomal_recessive_3|not_specified|... 0.33543 0.52888 0.55351 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11614 226778 17 18024013 A G 230693 Benign/Likely_benign Deafness,_autosomal_recessive_3|not_specified|... 0.30364 0.52583 0.5659 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11615 226779 17 18024266 T G 230696 Benign/Likely_benign Deafness,_autosomal_recessive_3|not_specified|... . . 0.49601 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11616 682532 17 18030240 T C 668764 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11617 682533 17 18030524 G A 668766 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11618 45751 17 18046058 A C 54916 Benign/Likely_benign Deafness,_autosomal_recessive_3|not_specified|... 0.76901 0.71307 0.68431 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11619 45753 17 18046898 T C 54918 Benign/Likely_benign Deafness,_autosomal_recessive_3|not_specified|... 0.80341 0.73948 0.71805 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11620 45758 17 18052867 T C 54923 Benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.99952 0.98947 0.98982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11621 45761 17 18055229 G A 54926 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.59902 0.56359 0.39078 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11622 226789 17 18057215 C G 230743 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.25743 . 0.21026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11623 45774 17 18064730 C T 54939 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.20478 0.17672 0.15755 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11624 45775 17 18065888 T C 54940 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.20385 0.1854 0.15695 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11625 45744 17 18077175 T C 54909 Benign/Likely_benign Deafness,_autosomal_recessive_3|not_specified|... 0.79492 0.7312 0.72145 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11626 322191 17 18082796 C G 327624 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.15675 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11627 322196 17 18083104 G A 327635 Likely_benign Nonsyndromic_Hearing_Loss,_Recessive . . 0.72105 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11628 260675 17 19247075 G A 256099 Benign Meckel_syndrome,_type_9|not_specified 0.59957 0.5994 0.3105 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11629 674719 17 19265797 C T 667861 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11630 322219 17 19578873 A T 345179 Benign Sjögren-Larsson_syndrome|not_provided 0.55067 0.61541 0.67851 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11631 322237 17 19580494 A G 345207 Benign Sjögren-Larsson_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11632 322240 17 19580760 TAC T 327687 Benign Sjögren-Larsson_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11633 5404 17 19812541 T C 20443 risk_factor Cardiac_conduction_defect,_susceptibility_to . 0.37365 0.39397 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11634 768841 17 21201719 T C 778368 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11635 768842 17 21202191 C A 704020 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11636 768843 17 21202237 G C 704021 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11637 768849 17 21205460 C T 704027 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11638 768850 17 21206556 C T 778456 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11639 218844 17 21207813 T G 215533 Uncertain_significance not_specified . 0.28464 . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11640 768852 17 21207844 C T 704029 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11641 768853 17 21208413 C T 704030 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11642 768854 17 21208449 G T 778324 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11643 768855 17 21215446 C T 778240 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11644 768856 17 21215483 C T 704032 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11645 768857 17 21215537 C A 704034 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11646 768858 17 21215552 C T 704035 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11647 768859 17 21215557 G A 704036 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11648 768860 17 21216846 G C 704037 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11649 768861 17 21217513 G A 704038 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11650 322335 17 26721791 C A 337587 Benign Congenital_defect_of_folate_absorption . . 0.61741 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11651 322336 17 26721895 G A 327762 Benign Congenital_defect_of_folate_absorption . . 0.61741 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11652 322341 17 26722039 G GA 327778 Benign Congenital_defect_of_folate_absorption . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11653 322346 17 26722645 G A 345316 Benign Congenital_defect_of_folate_absorption . . 0.61661 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11654 322348 17 26722728 C T 345318 Benign Congenital_defect_of_folate_absorption . . 0.61202 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11655 322361 17 26723613 G T 327801 Benign Congenital_defect_of_folate_absorption . . 0.53395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11656 322362 17 26723666 A C 345325 Benign Congenital_defect_of_folate_absorption . . 0.75499 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11657 322384 17 26725265 G A 343853 Benign Congenital_defect_of_folate_absorption . . 0.60523 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11658 322393 17 26725744 T C 345336 Benign Congenital_defect_of_folate_absorption . . 0.54852 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11659 379390 17 26851501 G A 374904 Benign not_specified 0.63025 0.71492 0.65076 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11660 379409 17 26856261 A G 375818 Benign not_specified 0.42065 0.38597 0.43071 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11661 322436 17 26864302 G C 337689 Benign T-cell_immunodeficiency,_congenital_alopecia_a... 0.37867 0.32289 0.39277 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11662 322494 17 27069393 C T 345410 Benign Nephronophthisis . . 0.39078 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11663 259672 17 27580756 C T 256112 Benign not_specified|not_provided 0.22028 0.21706 0.29074 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11664 322509 17 28523726 G T 327926 Likely_benign Behavior_disorder . . 0.58107 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11665 322518 17 28524804 A C 327928 Likely_benign Behavior_disorder . . 0.48343 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11666 322521 17 28525011 A C 343987 Likely_benign Behavior_disorder . . 0.48522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11667 322546 17 28549898 G T 327950 Likely_benign Behavior_disorder . . 0.79633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11668 561756 17 29482701 C T 552872 Benign not_provided . . 0.65256 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11669 561463 17 29482878 G A 552873 Benign not_provided . . 0.50998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11670 257283 17 29486152 G A 256114 Benign not_specified|not_provided 0.57414 0.623 0.50978 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11671 561464 17 29496819 C T 552882 Benign not_provided . . 0.48842 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11672 183825 17 29508775 G A 184518 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome|Neurof... 0.5744 0.6228 0.51178 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11673 561465 17 29509791 C T 552890 Benign not_provided . . 0.47804 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11674 561466 17 29509801 G T 552891 Benign not_provided . . 0.49361 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11675 561757 17 29530350 A C 552900 Benign not_provided . . 0.51757 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11676 561758 17 29530362 C T 552901 Benign not_provided . . 0.51058 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11677 561759 17 29541061 T C 552902 Benign not_provided . . 0.47444 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11678 561468 17 29541339 A T 552904 Benign not_provided . . 0.61062 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11679 257276 17 29541437 T C 256117 Benign not_specified|not_provided 0.56385 . 0.47404 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11680 257277 17 29545987 A AT 256119 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11681 257278 17 29546175 T C 256120 Benign not_specified|not_provided 0.53598 0.63397 0.47344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11682 561760 17 29550141 G A 552913 Benign not_provided . . 0.46406 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11683 183826 17 29553485 G A 184580 Benign/Likely_benign Hereditary_cancer-predisposing_syndrome|Neurof... 0.41635 0.38273 0.49681 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11684 561469 17 29558082 T C 552936 Benign not_provided . . 0.54613 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11685 561471 17 29559588 G C 552941 Benign not_provided . . 0.52616 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11686 257285 17 29559932 C A 256126 Benign not_specified 0.39036 0.36763 0.45807 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11687 561761 17 29577248 G A 552948 Benign not_provided . . 0.51158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11688 403230 17 29646032 G A 390336 Benign not_specified 0.66608 . 0.59185 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11689 561762 17 29652531 A G 552959 Benign not_provided . . 0.38039 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11690 257293 17 29653293 T C 256134 Benign not_specified|not_provided 0.67669 0.60005 0.60583 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11691 257294 17 29654876 T A 256135 Benign not_specified|not_provided 0.51622 0.53638 0.43191 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11692 561472 17 29654974 G A 552970 Benign not_provided . . 0.43171 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11693 561766 17 29661340 G T 552975 Benign not_provided . . 0.38039 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11694 561473 17 29663172 A C 552981 Benign not_provided . . 0.88678 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11695 257300 17 29670190 C G 256140 Benign not_specified|not_provided 0.88312 0.90685 0.8738 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11696 561763 17 29675878 T G 552992 Benign not_provided . . 0.41514 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11697 561475 17 29675971 T A 552993 Benign not_provided . . 0.42452 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11698 257303 17 29679246 G A 256143 Benign not_specified|not_provided 0.51338 . 0.43091 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11699 561476 17 29684553 C T 553001 Benign not_provided . . 0.40236 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11700 561764 17 29685150 A G 553002 Benign not_provided . . 0.24581 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11701 322597 17 29703374 G A 345469 Likely_benign Neurofibromatosis,_type_1|Café-au-lait_macules... . . 0.53055 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11702 322599 17 29703438 C G 327986 Benign Neurofibromatosis,_type_1|Café-au-lait_macules... . . 0.55871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11703 322603 17 29704002 T C 337817 Likely_benign Neurofibromatosis,_type_1|Café-au-lait_macules... . . 0.61262 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11704 805606 17 32957114 G A 793662 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11705 805607 17 32962004 C T 793663 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11706 805608 17 32962050 C T 793664 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11707 679676 17 33433820 A G 668941 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11708 322635 17 33901917 TTAAG T 344170 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11709 322663 17 33905468 A G 345589 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.8774 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11710 559340 17 35470031 T G 550067 Benign not_provided 0.03791 0.0137 0.04413 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11711 322940 17 36047275 C T 345691 Benign Familial_hypoplastic,_glomerulocystic_kidney . 0.85239 0.78035 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11712 36843 17 36047417 A G 45504 Benign Familial_hypoplastic,_glomerulocystic_kidney 0.67108 . 0.65495 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11713 674360 17 36059246 A C 668961 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11714 676878 17 36059377 A G 667882 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11715 676876 17 36059424 A AG 668964 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11716 672693 17 36060736 C G 668785 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11717 676904 17 36065302 T TCC 667884 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11718 322994 17 36485753 G C 345722 Benign Congenital_Stationary_Night_Blindness,_Recessive 0.29812 . 0.30411 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11719 198441 17 36491083 C T 195602 Benign/Likely_benign not_specified|Congenital_Stationary_Night_Blin... 0.04087 0.06525 0.03055 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11720 323028 17 36493586 A T 338237 Uncertain_significance Congenital_Stationary_Night_Blindness,_Recessive 0.01301 0.01002 0.00319 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11721 196294 17 36493598 A G 193455 Benign not_specified|Congenital_Stationary_Night_Blin... 0.22985 0.158 0.25859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11722 672043 17 37821435 G T 669266 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11723 44709 17 37822311 A C 53876 Benign/Likely_benign Hypertrophic_cardiomyopathy|not_specified|Card... 0.61834 0.6706 0.54972 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11724 679984 17 37830900 A G 656430 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11725 135519 17 37855834 C A 139258 not_provided not_specified . 0.17617 0.06589 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11726 134082 17 37884037 C G 137821 not_provided not_specified 0.51353 0.60698 0.45208 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11727 259020 17 38240216 C T 256161 Benign not_specified 0.04536 0.03847 0.02975 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11728 66171 17 38978462 C T 77068 not_provided not_provided 0.18517 0.1974 0.13279 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11729 403023 17 39253835 C T 390196 Benign not_specified . . 0.63638 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11730 323070 17 39657337 C A 344363 Benign White_sponge_nevus_of_cannon . . 0.6897 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11731 323084 17 39659183 G A 338280 Benign White_sponge_nevus_of_cannon 0.80755 0.90603 0.79992 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11732 323093 17 39659529 T C 328372 Benign White_sponge_nevus_of_cannon 0.83346 0.91394 0.82109 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11733 323096 17 39659913 G A 344370 Benign White_sponge_nevus_of_cannon 0.69514 0.85089 0.70527 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11734 323101 17 39661366 G C 345815 Benign White_sponge_nevus_of_cannon 0.0755 0.05345 0.07428 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11735 66540 17 39681475 A G 77437 not_provided not_provided 0.6201 0.68572 0.73183 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11736 66544 17 39684410 G A 77441 not_provided not_provided 0.58604 0.689 0.68411 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11737 323120 17 39723990 T A 328390 Likely_benign Localized_epidermolytic_hyperkeratosis 0.49892 0.62414 0.64736 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11738 323133 17 39726276 C A 344409 Likely_benign Localized_epidermolytic_hyperkeratosis 0.51699 0.62889 0.66314 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11739 66151 17 39727816 T G 77048 Likely_benign Localized_epidermolytic_hyperkeratosis|not_pro... 0.50162 . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11740 323141 17 39728050 G A 338340 Likely_benign Localized_epidermolytic_hyperkeratosis 0.64017 0.72923 0.78095 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11741 711995 17 39739558 C T 727165 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11742 66346 17 39742718 A G 77243 Benign not_specified|not_provided . 0.63752 0.68051 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11743 256364 17 39743081 G A 256164 Benign not_specified 0.55026 0.67151 0.68051 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11744 771767 17 39881327 T C 704140 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11745 323159 17 39911771 A G 344426 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... . . 0.63219 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11746 21304 17 39912145 T A 34156 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... 0.69699 0.65924 0.58726 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11747 672153 17 39912259 A AC 668979 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11748 672152 17 39912581 A G 667894 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11749 261475 17 39913645 T C 256165 Benign not_specified|not_provided 0.79356 0.71 0.71725 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11750 261474 17 39914070 G T 256166 Benign not_specified|not_provided 0.73466 0.6784 0.63898 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11751 668841 17 39920621 T C 669272 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11752 674289 17 39920655 C T 669278 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11753 258593 17 39923614 A G 256168 Benign not_specified 0.83431 0.76379 0.74421 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11754 683546 17 39924931 G A 667899 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11755 45851 17 39925713 C T 55016 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... 0.04221 0.04974 0.02396 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11756 45845 17 39925925 A G 55010 Benign/Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... 0.79556 . 0.71566 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11757 673320 17 39928180 G A 668831 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11758 674288 17 39928375 C T 668990 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11759 516121 17 39942819 TGC T 505900 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11760 323175 17 39942919 T C 328421 Likely_benign Arrhythmogenic_right_ventricular_cardiomyopath... . . 0.65535 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11761 516227 17 39969549 C T 506811 Benign not_specified 0.10557 0.07799 0.06589 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11762 682701 17 39973065 A G 669283 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11763 682703 17 39975164 C T 668833 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11764 682715 17 39977734 A G 668842 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11765 674879 17 39977862 C T 668998 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11766 323197 17 39979062 T A 338398 Benign Osteogenesis_Imperfecta,_Recessive . . 0.78714 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11767 323199 17 39979081 CC GG 345864 Uncertain_significance Osteogenesis_Imperfecta,_Recessive . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11768 323203 17 39979267 GCTC G 345866 Benign Osteogenesis_Imperfecta,_Recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11769 323218 17 40466092 G A 328440 Benign Hyper-IgE_syndrome . . 0.44988 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11770 323258 17 40554956 A G 345919 Benign Familial_partial_lipodystrophy . . 0.85923 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11771 323259 17 40555001 G C 344514 Benign Familial_partial_lipodystrophy . . 0.85982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11772 323260 17 40555114 A C 344515 Benign Familial_partial_lipodystrophy . . 0.85324 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11773 323267 17 40555890 T C 344517 Benign Familial_partial_lipodystrophy . . 0.85982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11774 323268 17 40555939 A T 328498 Benign Familial_partial_lipodystrophy . . 0.53235 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11775 323271 17 40556247 G A 338443 Benign Familial_partial_lipodystrophy . . 0.85982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11776 323275 17 40556515 T C 344522 Benign Familial_partial_lipodystrophy . . 0.86002 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11777 92694 17 40689455 T C 98601 Benign Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS... 0.99477 0.9947 0.9976 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11778 195051 17 40689613 G C 192213 Benign not_specified 0.74542 . 0.72005 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11779 682647 17 40690118 G C 669311 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11780 92697 17 40693136 C G 98604 Benign not_specified|not_provided 0.00077 . 0.0004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11781 682648 17 40693344 C T 667969 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11782 92693 17 40696233 C G 98600 Benign Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS... 0.84884 . 0.85923 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11783 380441 17 40717672 C G 375926 Benign Neurodegeneration_with_brain_iron_accumulation... 0.04798 . 0.02496 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11784 255350 17 41063466 T C 256175 Benign Glycogen_storage_disease,_type_I|not_specified... 0.75444 0.71237 0.63838 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11785 323383 17 41064737 C A 344623 Benign Glycogen_storage_disease,_type_I . . 0.72664 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11786 323389 17 41064987 TTTTTAGAA T 344627 Benign Glycogen_storage_disease,_type_I . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11787 323395 17 41065531 A T 338554 Benign Glycogen_storage_disease,_type_I . . 0.60703 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11788 323396 17 41065538 T A 344640 Benign Glycogen_storage_disease,_type_I . . 0.65136 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11789 403353 17 41121209 GGC G,GG 390210 Benign not_specified . . . 1|2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
11790 209221 17 41192016 C CAT 206179 Benign Breast-ovarian_cancer,_familial_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11791 209226 17 41193910 A T 206184 Benign Breast-ovarian_cancer,_familial_1 . . 0.53774 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11792 209227 17 41194885 T C 206185 Benign Breast-ovarian_cancer,_familial_1 . . 0.49141 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11793 209228 17 41195025 T A 206186 Benign Breast-ovarian_cancer,_familial_1 . . 0.34225 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11794 209230 17 41195711 G C 206188 Benign Breast-ovarian_cancer,_familial_1 . . 0.34245 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11795 209231 17 41195773 A G 206189 Benign Breast-ovarian_cancer,_familial_1 . . 0.34225 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11796 132777 17 41196408 G A 136525 Benign Hereditary_breast_and_ovarian_cancer_syndrome|... . 0.44485 0.34225 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11797 209234 17 41197274 C A 206192 Benign Hereditary_breast_and_ovarian_cancer_syndrome|... . 0.44647 0.32448 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11798 209238 17 41198621 A G 206196 Benign Breast-ovarian_cancer,_familial_1 . . 0.34245 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11799 209243 17 41199913 T C 206201 Benign Breast-ovarian_cancer,_familial_1 . . 0.53395 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11800 209244 17 41200109 T C 206202 Benign Breast-ovarian_cancer,_familial_1 . . 0.34265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11801 209247 17 41200537 T C 206205 Benign Breast-ovarian_cancer,_familial_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11802 491153 17 41201653 G A 485074 Likely_benign Hereditary_cancer-predisposing_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11803 209252 17 41201702 C T 206210 Benign Hereditary_cancer-predisposing_syndrome|Breast... . . 0.32508 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11804 209256 17 41202688 G A 206214 Benign Breast-ovarian_cancer,_familial_1 . . 0.53774 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11805 209259 17 41203325 T A 206217 Benign Breast-ovarian_cancer,_familial_1 . . 0.34285 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11806 209260 17 41203591 T C 206218 Benign Breast-ovarian_cancer,_familial_1 . . 0.34285 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11807 209266 17 41204377 A G 206224 Benign Breast-ovarian_cancer,_familial_1 . . 0.34285 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11808 209267 17 41204390 T C 206225 Benign Breast-ovarian_cancer,_familial_1 . . 0.34265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11809 209277 17 41205772 G A 206235 Benign Breast-ovarian_cancer,_familial_1 . . 0.34265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11810 209278 17 41205941 A G 206236 Benign Breast-ovarian_cancer,_familial_1 . . 0.49022 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11811 209279 17 41206056 T C 206237 Benign Breast-ovarian_cancer,_familial_1 . . 0.34285 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11812 209291 17 41209578 T C 206249 Benign Breast-ovarian_cancer,_familial_1 . . 0.34265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11813 209296 17 41210396 A C 206254 Benign Breast-ovarian_cancer,_familial_1 . . 0.45927 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11814 209301 17 41211653 A G 206259 Benign Breast-ovarian_cancer,_familial_1 . . 0.32488 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11815 209303 17 41212169 C T 206261 Benign Breast-ovarian_cancer,_familial_1 . . 0.32488 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11816 209305 17 41212338 A C 206263 Benign Breast-ovarian_cancer,_familial_1 . . 0.34265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11817 209306 17 41212547 C T 206264 Benign Breast-ovarian_cancer,_familial_1 . . 0.34245 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11818 209308 17 41212805 C T 206266 Benign Breast-ovarian_cancer,_familial_1 . . 0.48962 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11819 209313 17 41213626 G T 206271 Benign Breast-ovarian_cancer,_familial_1 . . 0.32428 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11820 209314 17 41213660 T C 206272 Benign Breast-ovarian_cancer,_familial_1 . . 0.34205 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11821 209317 17 41213893 C T 206275 Benign Breast-ovarian_cancer,_familial_1 . . 0.32428 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11822 209318 17 41213996 C T 206276 Benign Breast-ovarian_cancer,_familial_1 . . 0.32428 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11823 209320 17 41214209 CAA C 206278 Benign Breast-ovarian_cancer,_familial_1 . . 0.32648 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11824 55428 17 41215825 C T 70095 Benign Familial_cancer_of_breast|Hereditary_cancer-pr... . . 0.34245 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11825 209322 17 41216205 G T 206280 Benign Breast-ovarian_cancer,_familial_1 . . 0.29094 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11826 209327 17 41216933 T C 206285 Benign Breast-ovarian_cancer,_familial_1 . . 0.33966 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11827 209335 17 41217874 C T 206293 Benign Breast-ovarian_cancer,_familial_1 . . 0.33586 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11828 209336 17 41218333 G A 206294 Benign Breast-ovarian_cancer,_familial_1 . . 0.35363 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11829 209340 17 41218572 T C 206298 Benign Breast-ovarian_cancer,_familial_1 . . 0.33586 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11830 127127 17 41219341 G T 132630 Benign Familial_cancer_of_breast|Breast-ovarian_cance... . . 0.2528 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11831 127126 17 41219560 C T 132629 Benign Familial_cancer_of_breast|Breast-ovarian_cance... . . 0.30691 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11832 125746 17 41219780 T C 131284 Benign Hereditary_cancer-predisposing_syndrome|Breast... . . 0.35463 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11833 125749 17 41219804 T C 131287 Benign Breast-ovarian_cancer,_familial_1|not_specified . . 0.35463 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11834 209350 17 41220223 A G 206308 Benign Breast-ovarian_cancer,_familial_1 . . 0.35503 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11835 209358 17 41222462 A G 206316 Benign Breast-ovarian_cancer,_familial_1 . . 0.35583 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11836 209359 17 41222723 T C 206317 Benign Breast-ovarian_cancer,_familial_1 . . 0.33746 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11837 41827 17 41223094 T C 50266 Benign Breast_carcinoma|Hereditary_breast_and_ovarian... 0.29817 . 0.35583 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11838 264795 17 41223538 G GAATGTTCACTGTAACAATGCTTGT 259558 Benign Breast-ovarian_cancer,_familial_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11839 209363 17 41224833 G C 206321 Benign Breast-ovarian_cancer,_familial_1 . . 0.33646 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11840 209371 17 41225839 T C 206329 Benign Breast-ovarian_cancer,_familial_1 . . 0.35483 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11841 209374 17 41226601 G C 206332 Benign Breast-ovarian_cancer,_familial_1|not_specified . . 0.35344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11842 209375 17 41226675 A T 206333 Benign Breast-ovarian_cancer,_familial_1|not_specified . . 0.5024 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11843 209376 17 41226736 GGGGTT G 206334 Benign Breast-ovarian_cancer,_familial_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11844 209378 17 41227083 C CGGAA 206336 Benign Breast-ovarian_cancer,_familial_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11845 209382 17 41229386 T C 206340 Benign Breast-ovarian_cancer,_familial_1 . . 0.35383 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11846 264844 17 41229773 T C 259564 Benign Breast-ovarian_cancer,_familial_1 . . 0.35363 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11847 209384 17 41229777 G GT 206342 Benign Breast-ovarian_cancer,_familial_1 . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11848 209385 17 41229812 A G 206343 Benign Breast-ovarian_cancer,_familial_1 . . 0.5026 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11849 209386 17 41229857 G A 206344 Benign Breast-ovarian_cancer,_familial_1 . . 0.54892 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11850 209387 17 41229908 T A 206345 Benign Breast-ovarian_cancer,_familial_1 . . 0.54812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11851 264827 17 41230105 CT C 259566 Benign Breast-ovarian_cancer,_familial_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11852 209389 17 41230228 G A 206347 Benign Breast-ovarian_cancer,_familial_1 . . 0.33486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11853 209390 17 41230336 A G 206348 Benign Breast-ovarian_cancer,_familial_1 . . 0.33486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11854 209391 17 41230376 A G 206349 Benign Breast-ovarian_cancer,_familial_1 . . 0.33486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11855 209392 17 41230524 T G 206350 Benign Breast-ovarian_cancer,_familial_1 . . 0.253 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11856 209393 17 41230537 A T 206351 Benign Breast-ovarian_cancer,_familial_1 . . 0.5024 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11857 209396 17 41230990 A G 206354 Benign Breast-ovarian_cancer,_familial_1 . . 0.503 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11858 209398 17 41231221 A C 206356 Benign Breast-ovarian_cancer,_familial_1 . . 0.33546 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11859 209399 17 41231516 C T 206357 Benign Breast-ovarian_cancer,_familial_1 . . 0.35344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11860 209401 17 41231902 G A 206359 Benign Breast-ovarian_cancer,_familial_1 . . 0.33486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11861 209929 17 41232344 G C 206361 Benign Breast-ovarian_cancer,_familial_1 . . 0.98023 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11862 209404 17 41232698 C T 206363 Benign Breast-ovarian_cancer,_familial_1 . . 0.14397 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11863 125703 17 41234470 A G 131241 Benign Hereditary_breast_and_ovarian_cancer_syndrome|... 0.27956 0.3431 0.33626 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11864 209413 17 41235799 G A 206372 Benign Breast-ovarian_cancer,_familial_1 . . 0.58546 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11865 209420 17 41237953 G A 206379 Benign Breast-ovarian_cancer,_familial_1 . . 0.35264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11866 209424 17 41239472 G A 206383 Benign Breast-ovarian_cancer,_familial_1 . . 0.33806 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11867 209425 17 41239491 T C 206384 Benign Breast-ovarian_cancer,_familial_1 . . 0.35363 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11868 209426 17 41239628 A G 206385 Benign Breast-ovarian_cancer,_familial_1 . . 0.35363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11869 264847 17 41239915 AT A 259575 Benign Breast-ovarian_cancer,_familial_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11870 209427 17 41240277 T C 206386 Benign Breast-ovarian_cancer,_familial_1 . . 0.17033 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11871 209432 17 41241390 C A 206391 Benign Breast-ovarian_cancer,_familial_1 . . 0.35344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11872 209433 17 41241503 T C 206392 Benign Breast-ovarian_cancer,_familial_1 . . 0.35344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11873 209435 17 41241568 T TC 206394 Benign Breast-ovarian_cancer,_familial_1 . . 0.31969 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11874 209436 17 41242075 AAAG A 206395 Benign Breast-ovarian_cancer,_familial_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11875 209439 17 41242285 T G 206398 Benign Breast-ovarian_cancer,_familial_1 . . 0.35264 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11876 125674 17 41243190 T G 131212 Benign Familial_cancer_of_breast|Breast-ovarian_cance... . . 0.5024 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11877 41818 17 41244000 T C 50257 Benign Breast_carcinoma|Hereditary_breast_and_ovarian... 0.29525 0.34901 0.35264 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11878 41815 17 41244435 T C 50254 Benign Breast_carcinoma|Hereditary_breast_and_ovarian... 0.27903 0.34287 0.33566 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11879 41812 17 41244936 G A 50251 Benign Breast_carcinoma|Hereditary_breast_and_ovarian... 0.49316 0.41005 0.54393 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11880 125554 17 41245237 A G 131092 Benign Hereditary_breast_and_ovarian_cancer_syndrome|... 0.27764 0.34196 0.33526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11881 125536 17 41245466 G A 131074 Benign Hereditary_breast_and_ovarian_cancer_syndrome|... 0.29568 0.34827 0.33646 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11882 127125 17 41247122 A ACCT 132628 Benign Familial_cancer_of_breast|Breast-ovarian_cance... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11883 209447 17 41247604 A C 206406 Benign Breast-ovarian_cancer,_familial_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11884 209449 17 41248164 C T 206408 Benign Breast-ovarian_cancer,_familial_1 . . 0.33506 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11885 209450 17 41248484 G C 206409 Benign Breast-ovarian_cancer,_familial_1 . . 0.33486 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11886 209451 17 41249094 A G 206410 Benign Breast-ovarian_cancer,_familial_1 . . 0.35264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11887 125889 17 41249363 TA T 131427 Benign Hereditary_cancer-predisposing_syndrome|Breast... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11888 209458 17 41250678 C CT 206417 Benign Breast-ovarian_cancer,_familial_1 . . 0.35264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11889 209460 17 41250923 T C 206419 Benign Breast-ovarian_cancer,_familial_1 . . 0.54812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11890 209463 17 41251495 C G 206422 Benign Breast-ovarian_cancer,_familial_1 . . 0.33586 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11891 125879 17 41251646 T A 131417 Benign Breast-ovarian_cancer,_familial_1 . . 0.35264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11892 209478 17 41254174 A G 206437 Benign Breast-ovarian_cancer,_familial_1 . . 0.35344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11893 264778 17 41254405 C T 259589 Benign Breast-ovarian_cancer,_familial_1 . . 0.35344 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11894 209479 17 41254486 T G 206438 Benign Breast-ovarian_cancer,_familial_1 . . 0.54812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11895 264845 17 41254965 C CT 259592 Benign Breast-ovarian_cancer,_familial_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11896 209483 17 41255102 A G 206442 Benign Breast-ovarian_cancer,_familial_1 . . 0.33526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11897 209484 17 41255111 A T 206443 Benign Breast-ovarian_cancer,_familial_1 . . 0.35324 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11898 225705 17 41256089 AAAAAAAAAGAAAAG A 227569 Benign Breast-ovarian_cancer,_familial_1|not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11899 125614 17 41257134 T C 131152 Benign Breast-ovarian_cancer,_familial_1|not_specified . . 0.54852 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11900 209489 17 41257458 A C 206448 Benign Breast-ovarian_cancer,_familial_1 . . 0.33586 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11901 209491 17 41258043 C T 206450 Benign Breast-ovarian_cancer,_familial_1 . . 0.35304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11902 209494 17 41259049 C T 206453 Benign Breast-ovarian_cancer,_familial_1 . . 0.35304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11903 209499 17 41260808 A G 206458 Benign Breast-ovarian_cancer,_familial_1 . . 0.35304 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11904 264813 17 41261058 T TCTATCTATCTACCTAC 259598 Benign Breast-ovarian_cancer,_familial_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11905 209503 17 41261233 C T 206462 Benign Breast-ovarian_cancer,_familial_1 . . 0.35344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11906 209512 17 41263044 A G 206471 Benign Breast-ovarian_cancer,_familial_1 . . 0.35224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11907 209516 17 41263566 T C 206475 Benign Breast-ovarian_cancer,_familial_1 . . 0.35703 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11908 209519 17 41264146 G A 206478 Benign Breast-ovarian_cancer,_familial_1 . . 0.33447 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11909 209521 17 41264364 A G 206480 Benign Breast-ovarian_cancer,_familial_1 . . 0.33447 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11910 209524 17 41265776 A G 206483 Benign Breast-ovarian_cancer,_familial_1 . . 0.35304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11911 209531 17 41267050 G A 206490 Benign Breast-ovarian_cancer,_familial_1 . . 0.35423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11912 209537 17 41268206 A C 206496 Benign Breast-ovarian_cancer,_familial_1 . . 0.35304 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11913 264808 17 41268208 C CT 259612 Benign Breast-ovarian_cancer,_familial_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11914 209545 17 41270229 T G 206504 Benign Breast-ovarian_cancer,_familial_1 . . 0.35304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11915 209547 17 41270277 C T 206506 Benign Breast-ovarian_cancer,_familial_1 . . 0.33546 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11916 209551 17 41270463 G A 206510 Benign Breast-ovarian_cancer,_familial_1 . . 0.35264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11917 209552 17 41270666 C A 206511 Benign Breast-ovarian_cancer,_familial_1 . . 0.33506 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11918 209559 17 41273095 G A 206518 Benign Breast-ovarian_cancer,_familial_1 . . 0.35304 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11919 209561 17 41273348 T C 206520 Benign Breast-ovarian_cancer,_familial_1 . . 0.54453 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11920 209562 17 41273379 G C 206521 Benign Breast-ovarian_cancer,_familial_1 . . 0.33526 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11921 209564 17 41273537 A C 206523 Benign Breast-ovarian_cancer,_familial_1 . . 0.35304 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11922 209565 17 41274778 G A 206524 Benign Breast-ovarian_cancer,_familial_1 . . 0.35363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11923 209568 17 41274906 G A 206526 Benign Breast-ovarian_cancer,_familial_1 . . 0.54273 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11924 209569 17 41275081 G GA 206528 Benign Breast-ovarian_cancer,_familial_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11925 209570 17 41275151 G C 206529 Benign Breast-ovarian_cancer,_familial_1 . . 0.33506 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11926 209571 17 41275645 A G 206530 Benign Breast-ovarian_cancer,_familial_1 . . 0.35363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11927 125468 17 41276247 A G 131006 Benign Breast-ovarian_cancer,_familial_1|not_specified . . 0.35363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11928 209574 17 41276348 T C 206533 Benign Breast-ovarian_cancer,_familial_1 . . 0.35363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11929 189123 17 41277187 G C 186980 Benign Breast-ovarian_cancer,_familial_1|not_specified . 0.48053 0.54513 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11930 209582 17 41278116 T C 206541 Benign Breast-ovarian_cancer,_familial_1 . . 0.50319 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11931 209583 17 41278377 G A 206542 Benign Breast-ovarian_cancer,_familial_1 . . 0.35403 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11932 209587 17 41278916 A G 206546 Benign Breast-ovarian_cancer,_familial_1 . . 0.50319 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11933 209589 17 41279298 A G 206548 Benign Breast-ovarian_cancer,_familial_1 . . 0.35423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11934 209592 17 41279561 G C 206551 Benign Breast-ovarian_cancer,_familial_1 . . 0.54932 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11935 209593 17 41279770 A G 206552 Benign Breast-ovarian_cancer,_familial_1 . . 0.35783 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11936 209594 17 41279837 C A 206553 Benign Breast-ovarian_cancer,_familial_1 . . 0.33586 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11937 209595 17 41279882 A G 206554 Benign Breast-ovarian_cancer,_familial_1 . . 0.35363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11938 323430 17 41831443 G GC 338589 Benign Sclerosing_Bone_Dysplasias . . 0.5 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11939 768890 17 42030743 G C 704166 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11940 262687 17 42084097 C G 256179 Benign Hyperammonemia,_type_III|not_specified 0.2625 0.31936 0.1885 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11941 680677 17 42084377 G A 669024 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11942 262688 17 42085150 T C 256180 Benign Hyperammonemia,_type_III|not_specified|not_pro... 0.9227 0.94322 0.96026 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11943 680676 17 42085352 G C 668862 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11944 262686 17 42085972 C T 256181 Benign Hyperammonemia,_type_III|not_specified|not_pro... 0.57258 0.56597 0.47564 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11945 323452 17 42086180 C T 344676 Benign Hyperammonemia,_type_III . . 0.89477 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11946 323459 17 42148205 C T 344691 Benign Severe_congenital_neutropenia . 0.56696 0.32308 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11947 262366 17 42152103 G A 256183 Benign Severe_congenital_neutropenia|not_specified 0.08535 0.17677 0.26997 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11948 323481 17 42326258 C T 344706 Likely_benign Hemolytic_anemia|Distal_Renal_Tubular_Acidosis... . . 0.53634 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11949 323498 17 42327493 G T 344720 Likely_benign Hemolytic_anemia|Distal_Renal_Tubular_Acidosis... . . 0.44649 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11950 803426 17 42427544 G GAGTC 791780 Benign Frontotemporal_dementia,_ubiquitin-positive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11951 558917 17 42427732 G A 549747 Benign not_provided 0.26688 0.28269 0.35144 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11952 128973 17 42953409 A G 134420 Benign Growth_and_mental_retardation,_mandibulofacial... 0.21951 0.17427 0.17053 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11953 128972 17 42961009 C T 134419 Benign Growth_and_mental_retardation,_mandibulofacial... 0.64309 0.56925 0.5605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11954 369146 17 42977073 T G 353375 Likely_benign Primary_ciliary_dyskinesia . . 0.27696 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11955 66508 17 42989088 C T 77405 Benign Alexander_Disease|not_provided 0.15608 0.1163 0.14078 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11956 66426 17 42993118 G T 77323 not_provided not_provided . . 0.40835 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11957 98197 17 44060859 A G 104089 Benign Frontotemporal_dementia|not_specified|not_prov... 0.04185 0.04127 0.02776 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11958 98211 17 44074018 G A 104103 Benign/Likely_benign Frontotemporal_dementia|not_specified|MAPT-Rel... 0.04306 0.03595 0.03295 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11959 323687 17 44103445 TAG T 328833 Benign Syndromic_intellectual_disability|MAPT-Related... . . 0.20248 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11960 323727 17 44105395 A G 344915 Benign Syndromic_intellectual_disability|MAPT-Related... . . 0.61402 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11961 323764 17 44109474 G A 346272 Benign Koolen-de_Vries_syndrome|Syndromic_intellectua... 0.34638 0.3775 0.3129 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11962 682029 17 44116843 C A 669322 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11963 803431 17 44144993 C G 791785 Benign Koolen-de_Vries_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11964 369215 17 44270181 G A 353444 Benign Syndromic_intellectual_disability . . 0.31869 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11965 137487 17 45000529 G C 141190 Benign Progressive_myoclonic_epilepsy|not_specified 0.30023 0.3961 0.3732 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11966 193275 17 45000547 G C 190439 Benign Progressive_myoclonic_epilepsy|Epilepsy,_progr... 0.95096 . 0.95367 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11967 668838 17 45007207 C G 668034 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11968 683278 17 45007213 A G 668035 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11969 668839 17 45012087 A G 668880 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11970 681357 17 45012248 T G 669375 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11971 323828 17 45016412 G GTGGCTTTGT 346313 Likely_benign Progressive_myoclonic_epilepsy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11972 323830 17 45016427 T C 338937 Benign Progressive_myoclonic_epilepsy . . 0.9363 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11973 323837 17 45017241 G A 338951 Benign Progressive_myoclonic_epilepsy . . 0.375 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11974 323846 17 45017859 A G 328952 Benign Progressive_myoclonic_epilepsy 0.42072 . 0.41134 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11975 323855 17 45018418 C T 346341 Likely_benign Progressive_myoclonic_epilepsy . . 0.07468 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11976 13558 17 45360730 T C 28597 Benign/Likely_benign PL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM|Myocardia... . 0.12354 0.08886 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11977 255541 17 45364540 T C 256225 Benign Glanzmann_thrombasthenia|not_specified 0.09819 0.10286 0.14397 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11978 255535 17 45368337 A C 256226 Benign Glanzmann_thrombasthenia|not_specified|not_pro... 0.38505 . 0.43111 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11979 255536 17 45369777 A G 256227 Benign Glanzmann_thrombasthenia|not_specified 0.28395 0.28714 0.28734 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11980 255537 17 45369789 G A 256228 Benign Glanzmann_thrombasthenia|not_specified 0.28387 0.2873 0.28734 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11981 255538 17 45377825 T C 256229 Benign not_specified 0.08304 0.09057 0.12041 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11982 323884 17 45388241 C T 346348 Likely_benign Glanzmann_thrombasthenia . . 0.02356 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11983 323887 17 45388283 A G 346364 Likely_benign Glanzmann_thrombasthenia . . 0.1232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11984 323891 17 45388586 T A 346367 Benign Glanzmann_thrombasthenia . . 0.72344 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11985 667952 17 46019322 C T 669086 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11986 667950 17 46022330 G A 669090 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11987 670594 17 46022889 C T 669091 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11988 323918 17 46024660 A C 345064 Benign Pyridoxal_5'-phosphate-dependent_epilepsy . . 0.42552 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11989 323927 17 46025052 A G 339061 Benign Pyridoxal_5'-phosphate-dependent_epilepsy . . 0.6877 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11990 323940 17 46026156 A G 345069 Benign Pyridoxal_5'-phosphate-dependent_epilepsy . . 0.80791 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11991 768894 17 46802008 C G 704194 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11992 324008 17 48067712 CT C 346473 Likely_benign Amelogenesis_Imperfecta,_Dominant . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11993 324013 17 48067953 T C 329082 Benign Amelogenesis_Imperfecta,_Dominant . . 0.65336 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11994 518262 17 48151908 T C 508887 Benign Interstitial_lung_disease,_nephrotic_syndrome,... 0.88582 0.8553 0.76278 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11995 254719 17 48243461 G A 256266 Benign/Likely_benign not_specified|not_provided 0.04575 0.05445 0.02835 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11996 669838 17 48243504 C T 668060 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
11997 684353 17 48243736 G A 669391 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11998 669840 17 48245180 C T 669395 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
11999 254718 17 48245269 C A 256269 Benign not_specified|not_provided 0.14224 . 0.1224 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12000 670060 17 48245547 A G 668895 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12001 669841 17 48246162 G A 669396 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12002 670061 17 48246231 C T 669400 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12003 670546 17 48246827 C T 669104 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12004 669842 17 48248267 A T 668904 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12005 324072 17 48262119 G A 339244 Likely_benign Infantile_cortical_hyperostosis|Ehlers-Danlos_... . . 0.13119 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12006 324076 17 48262181 G GTGCT 329121 Likely_benign Infantile_cortical_hyperostosis|Ehlers-Danlos_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12007 324093 17 48262775 A G 345156 Likely_benign Infantile_cortical_hyperostosis|Ehlers-Danlos_... . . 0.37859 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12008 197918 17 48263021 C T 195079 Benign/Likely_benign Infantile_cortical_hyperostosis|Ehlers-Danlos_... 0.5103 0.5828 0.48502 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12009 674808 17 48265426 A G 669404 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12010 285362 17 48265495 T C 269599 Benign not_specified 0.97095 0.98479 0.97883 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12011 674807 17 48266669 G C 668911 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12012 254948 17 48267291 G C 256272 Benign not_specified 0.52492 . 0.54133 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12013 254947 17 48268223 A G 256273 Benign/Likely_benign Infantile_cortical_hyperostosis|Ehlers-Danlos_... 0.99985 0.99984 0.9998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12014 674806 17 48268626 A G 668913 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12015 674805 17 48269302 G A 669413 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12016 674804 17 48269426 C T 669418 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12017 674803 17 48271433 A G 669424 Benign not_specified|not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12018 674802 17 48272055 C T 669115 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12019 674978 17 48273439 T C 669430 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12020 674801 17 48273464 T C 669118 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12021 674977 17 48274291 T G 668099 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12022 674976 17 48274309 T C 669438 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12023 683350 17 48276162 C T 668928 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12024 683343 17 48276252 A G 669441 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12025 254949 17 48276971 G C 256277 Benign not_specified 0.55305 0.61874 0.51817 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12026 2533 17 48437456 C G 17572 Benign Pseudoxanthoma_elasticum,_modifier_of_severity... . . 0.251 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12027 377617 17 48653354 C A 378501 Benign not_specified 0.37423 0.55542 0.52396 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12028 259116 17 54921494 A C 256279 Benign not_specified 0.69691 . 0.69828 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12029 403102 17 56348230 T G 390232 Benign not_specified 0.15478 . 0.14976 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12030 403385 17 56492800 T C 390363 Benign not_specified 0.32831 0.4048 0.3738 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12031 324173 17 56769979 C T 345189 Likely_benign Fanconi_anemia|Breast_and_Ovarian_Cancer_Susce... 0.178 0.17967 0.15835 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12032 324219 17 57184162 A C 329200 Benign Mulibrey_nanism_syndrome . . 0.61182 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12033 369217 17 57184270 A AG 353446 Benign Mulibrey_nanism_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12034 324241 17 59533868 G C 339409 Benign Ischiopatellar_dysplasia 0.1184 0.23444 0.18011 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12035 324249 17 59534987 T G 346635 Benign Ischiopatellar_dysplasia|not_specified 0.14647 0.18756 0.20268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12036 261035 17 59557600 C T 256297 Benign Ischiopatellar_dysplasia|not_specified 0.22236 0.14545 0.21326 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12037 324262 17 59560463 C T 345229 Benign Ischiopatellar_dysplasia 0.10649 0.10193 0.11562 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12038 324280 17 59561204 G A 345251 Benign Ischiopatellar_dysplasia . . 0.08247 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12039 324284 17 59561584 G T 329230 Benign Ischiopatellar_dysplasia . . 0.32308 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12040 324292 17 59757143 A C 346660 Likely_benign Neoplasm_of_the_breast|Fanconi_anemia . . 0.76218 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12041 324294 17 59757169 T A 345269 Likely_benign Neoplasm_of_the_breast|Fanconi_anemia . . 0.34225 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12042 324321 17 59758416 A G 329244 Likely_benign Neoplasm_of_the_breast|Fanconi_anemia . . 0.11961 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12043 210533 17 59758567 C G 208407 Likely_benign Neoplasm_of_the_breast|Fanconi_anemia|not_spec... . . 0.39217 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12044 324322 17 59758571 GGACA G 339477 Likely_benign Neoplasm_of_the_breast|Fanconi_anemia . . 0.38798 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12045 324335 17 59760174 G A 329258 Likely_benign Neoplasm_of_the_breast|Fanconi_anemia . . 0.626 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12046 324344 17 59760499 A G 339494 Likely_benign Neoplasm_of_the_breast|Fanconi_anemia . . 0.62181 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12047 183702 17 59760996 A G 185195 Benign/Likely_benign Neoplasm_of_the_breast|Neoplasm_of_ovary|Fanco... 0.60604 0.59412 0.62081 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12048 133756 17 59763347 A G 137495 Benign/Likely_benign Neoplasm_of_the_breast|Neoplasm_of_ovary|Famil... 0.61341 0.59722 0.6278 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12049 183703 17 59763465 T C 185227 Benign/Likely_benign Neoplasm_of_the_breast|Neoplasm_of_ovary|Fanco... 0.73428 0.71879 0.8151 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12050 679668 17 59820170 C A 669160 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12051 262005 17 59857809 C G 256299 Benign not_specified 0.78588 . 0.78974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12052 256799 17 61559923 C T 256305 Benign Renal_dysplasia|not_specified 0.33569 0.44916 0.42352 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12053 256800 17 61564052 A G 256306 Benign Renal_dysplasia|not_specified 0.44326 0.49989 0.52955 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12054 256802 17 61565990 G C 256307 Benign not_specified 0.43949 0.49965 0.52995 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12055 256801 17 61565998 A C 256308 Benign Renal_dysplasia|not_specified 0.41619 0.49958 0.52995 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12056 256803 17 61566031 G A 256309 Benign Renal_dysplasia|not_specified 0.56013 0.53726 0.64317 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12057 256804 17 61573761 T C 256310 Benign Renal_dysplasia|not_specified 0.50531 0.52334 0.58746 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12058 256806 17 61574492 G A 256312 Benign Renal_dysplasia|not_specified 0.49176 0.55618 0.58187 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12059 324435 17 61575454 A ACT 339581 Benign Renal_dysplasia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12060 324438 17 61575637 A G 329331 Benign Renal_dysplasia . . 0.65795 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12061 369220 17 61996204 T C 353449 Likely_benign Isolated_growth_hormone_deficiency 0.43079 . 0.36342 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12062 402520 17 62007498 A G 390202 Benign not_specified 0.65962 0.59517 0.5617 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12063 324474 17 62016440 G GCA 339623 Benign Paramyotonia_congenita_of_von_Eulenburg|Hypoka... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12064 324479 17 62016727 C CACACATATAT 346754 Benign Paramyotonia_congenita_of_von_Eulenburg|Hypoka... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12065 324494 17 62017421 A G 339637 Benign Paramyotonia_congenita_of_von_Eulenburg|Hypoka... . . 0.59605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12066 92863 17 62019103 G T 98770 Benign Paramyotonia_congenita_of_von_Eulenburg|Hypoka... 0.17454 0.16388 0.14018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12067 130236 17 62020348 T C 135683 Benign Paramyotonia_congenita_of_von_Eulenburg|Hypoka... 0.59934 0.52369 0.5615 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12068 669357 17 62020701 T TCCCTCCTCCCCGGGGACC 669201 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12069 684260 17 62020838 G A 669463 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12070 669356 17 62020866 A G 668966 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12071 669355 17 62021374 C T 668157 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12072 669353 17 62023128 C T 668161 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12073 167652 17 62025238 G T 178051 Benign Paramyotonia_congenita_of_von_Eulenburg|Hypoka... 0.26365 0.31555 0.25439 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12074 130228 17 62041068 T C 135675 Benign Paramyotonia_congenita_of_von_Eulenburg|Hypoka... 0.91538 0.92884 0.94429 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12075 669352 17 62041317 G T 668184 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12076 684257 17 62041558 G T 668195 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12077 669351 17 62041604 A G 668198 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12078 255843 17 62042078 T C 256326 Benign not_specified|not_provided 0.80146 0.88428 0.80831 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12079 669349 17 62043357 C G 668987 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12080 684254 17 62044195 T C 668991 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12081 684253 17 62044208 A G 669478 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12082 669348 17 62048467 A G 668204 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12083 255856 17 62049235 A G 256334 Benign not_specified|not_provided 0.98907 0.98776 0.99481 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12084 671347 17 62050513 C T 669482 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12085 671344 17 62050528 T C 669485 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12086 667974 17 62479273 A C 669214 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12087 324630 17 63525082 A T 345576 Benign Oligodontia-colorectal_cancer_syndrome . . 0.42173 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12088 324633 17 63525300 G T 339829 Benign Oligodontia-colorectal_cancer_syndrome . . 0.08327 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12089 679667 17 63529821 C T 668215 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12090 259512 17 63533423 C A 256352 Benign not_specified|not_provided 0.15754 0.12186 0.17412 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12091 259510 17 63533768 G A 256353 Benign Carcinoma_of_colon|Oligodontia-colorectal_canc... 0.54007 0.62364 0.44609 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12092 259509 17 63533789 T C 256354 Benign Oligodontia-colorectal_cancer_syndrome|not_spe... 0.91088 0.9144 0.90974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12093 496274 17 63534478 G A 488007 Benign not_provided 0.14762 0.11876 0.16414 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12094 16042 17 64210757 C A 31081 Benign APOH_POLYMORPHISM 0.32969 . 0.54153 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12095 260831 17 66596463 C T 256360 Benign not_specified 0.12906 . 0.16953 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12096 517056 17 68096908 A G 506140 Benign not_specified . . 0.81849 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12097 324854 17 68173731 A G 346989 Benign Andersen_Tawil_syndrome|short_QT_syndrome|Fami... . . 0.58087 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12098 667624 17 70118699 G A 668254 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12099 21164 17 70118935 C T 34016 Benign Camptomelic_dysplasia|not_specified|not_provided 0.16631 0.19328 0.13658 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12100 667625 17 70119245 C G 669563 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12101 324922 17 70120551 A C 339974 Benign Camptomelic_dysplasia 0.36452 0.40114 0.35443 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12102 324931 17 70121339 A G 347054 Benign Camptomelic_dysplasia . . 0.5611 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12103 324944 17 70122108 G A 347097 Benign Camptomelic_dysplasia . . 0.32109 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12104 324949 17 70122505 CT C 339992 Benign Camptomelic_dysplasia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12105 324951 17 71189182 A G 345723 Benign Congenital_disorder_of_glycosylation 0.53788 0.52769 0.52596 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12106 95917 17 71192663 G A 101813 Benign Congenital_disorder_of_glycosylation|not_speci... 0.44679 0.4969 0.44948 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12107 95919 17 71192873 A G 101815 Benign Congenital_disorder_of_glycosylation|not_speci... 0.44872 0.50134 0.45128 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12108 95911 17 71196809 A G 101807 Benign Congenital_disorder_of_glycosylation|not_speci... 0.53214 0.52312 0.52097 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12109 95914 17 71197748 G A 101810 Benign Congenital_disorder_of_glycosylation|not_speci... 0.53506 . 0.52536 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12110 95916 17 71201675 T C 101812 Benign not_specified 0.91627 0.94419 0.86362 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12111 325000 17 72270423 GAGCCGCGACC G 345743 Benign Primary_ciliary_dyskinesia . . 0.38299 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12112 325001 17 72270442 A G 340046 Benign Primary_ciliary_dyskinesia . . 0.63179 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12113 261648 17 72281367 A G 256376 Benign not_specified 0.95418 0.98746 0.96146 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12114 261640 17 72306116 CCT C 256389 Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12115 163171 17 72308319 G A 176498 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.77026 0.85806 0.74082 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12116 261645 17 72308403 G A 256394 Benign not_specified 0.77434 0.85683 0.72264 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12117 261646 17 72308410 C T 256395 Benign not_specified 0.86463 0.91538 0.84066 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12118 325040 17 72913072 T C 329799 Likely_benign Retinitis_pigmentosa-deafness_syndrome . . 0.21366 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12119 379995 17 73257986 C T 376658 Benign not_specified 0.65995 0.79585 0.65735 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12120 325062 17 73269258 G C 345823 Likely_benign Amish_lethal_microcephaly . . 0.53654 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12121 130327 17 73269530 A G 135774 Benign/Likely_benign Amish_lethal_microcephaly|not_specified|not_pr... 0.86975 0.92898 0.90016 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12122 130333 17 73269676 C T 135780 Benign/Likely_benign Amish_lethal_microcephaly|not_specified|not_pr... 0.50308 0.65168 0.53015 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12123 130330 17 73279624 A G 135777 Benign/Likely_benign Amish_lethal_microcephaly|not_specified|not_pr... 0.93603 0.96167 0.88958 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12124 325069 17 73285461 A C 347217 Likely_benign Amish_lethal_microcephaly . . 0.86122 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12125 96673 17 73512653 G T 102566 Benign Pontoneocerebellar_hypoplasia|not_specified|no... . . 0.54373 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12126 160133 17 73513185 C A 169401 Benign not_specified . 0.70737 0.45527 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12127 160123 17 73518203 G C 169409 Benign Pontoneocerebellar_hypoplasia|Pontocerebellar_... 0.5404 0.64141 0.44469 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12128 96670 17 73518284 G C 102563 Benign Pontoneocerebellar_hypoplasia|not_specified|no... 0.93503 0.87172 0.8143 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12129 160127 17 73519413 C T 169413 Benign Pontoneocerebellar_hypoplasia|not_specified|no... 0.6607 0.62413 0.5613 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12130 255542 17 73750859 C G 256412 Benign Deficiency_of_galactokinase|Epidermolysis_bull... 0.36552 . 0.3772 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12131 325232 17 73758832 G A 347287 Conflicting_interpretations_of_pathogenicity Deficiency_of_galactokinase|not_provided 0.00077 0.00056 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12132 263240 17 73824121 T C 256415 Benign Familial_hemophagocytic_lymphohistiocytosis|He... 0.51948 0.48439 0.52616 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12133 263236 17 73826406 G C 256419 Benign not_specified 0.19826 0.1856 0.16414 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12134 263228 17 73827205 T C 256423 Benign Familial_hemophagocytic_lymphohistiocytosis|He... 0.49308 0.36663 0.4994 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12135 325255 17 73830463 G A 345985 Conflicting_interpretations_of_pathogenicity Familial_hemophagocytic_lymphohistiocytosis|no... 8e-05 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12136 263222 17 73830996 C T 256429 Benign/Likely_benign Familial_hemophagocytic_lymphohistiocytosis|no... 0.20644 0.18974 0.15755 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12137 263247 17 73836162 C G 256440 Benign Familial_hemophagocytic_lymphohistiocytosis|He... 0.48408 . 0.49022 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12138 263229 17 73839214 G C 256449 Benign not_specified 0.22919 . 0.17712 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12139 263214 17 73839366 C T 256451 Benign Hemophagocytic_lymphohistiocytosis,_familial,_... 0.33116 0.25246 0.27736 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12140 325306 17 73938356 C CA 347341 Likely_benign Pseudoneonatal_adrenoleukodystrophy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12141 325320 17 73938957 C T 346044 Benign Pseudoneonatal_adrenoleukodystrophy . 0.57609 0.45068 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12142 325356 17 73941955 G A 346060 Likely_benign Pseudoneonatal_adrenoleukodystrophy . . 0.10963 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12143 325361 17 73942150 A G 346062 Benign Pseudoneonatal_adrenoleukodystrophy . . 0.46985 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12144 325365 17 73942196 C G 347373 Likely_benign Pseudoneonatal_adrenoleukodystrophy . . 0.02656 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12145 259223 17 73949540 G C 256459 Benign Pseudoneonatal_adrenoleukodystrophy|not_specif... 0.50869 0.64242 0.55072 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12146 325408 17 74467204 C T 346095 Likely_benign Howel-Evans_syndrome . . 0.01897 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12147 325455 17 74475024 G A 347434 Benign Howel-Evans_syndrome 0.79525 0.87865 0.76518 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12148 325469 17 74477620 C T 340410 Benign Howel-Evans_syndrome 0.12437 0.15246 0.14976 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12149 325499 17 74541129 A G 340449 Benign Retinitis_Pigmentosa,_Recessive . 0.51753 0.47863 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12150 518264 17 75303298 T C 508889 Benign Amyotrophy,_hereditary_neuralgic 0.86233 0.88527 0.91873 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12151 518266 17 75401190 G A 508891 Benign Amyotrophy,_hereditary_neuralgic . 0.29724 0.29673 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12152 325598 17 75495523 A G 346243 Benign Hereditary_Neuralgic_Amyotrophy_(HNA) . 0.03702 0.01078 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12153 325614 17 75496460 T C 330319 Benign Hereditary_Neuralgic_Amyotrophy_(HNA) . . 0.43211 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12154 403548 17 76130575 A T 390263 Benign not_specified 0.5559 . 0.55232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12155 403547 17 76131070 G A 390212 Benign not_specified 0.5765 0.53433 0.54034 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12156 403549 17 76134828 C A 390381 Benign not_specified 0.62302 0.58161 0.60184 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12157 402672 17 76423097 G A 390396 Benign not_specified 0.62248 0.74464 0.68451 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12158 402674 17 76433898 T C 390282 Benign not_specified 0.94715 0.98509 0.95088 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12159 402676 17 76449505 G C 390285 Benign not_specified 0.48516 0.51737 0.46645 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12160 402677 17 76462770 G A 390401 Benign not_specified 0.67002 0.73118 0.65016 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12161 402679 17 76472768 G A 390269 Benign not_specified 0.34348 0.27498 0.3756 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12162 402680 17 76481693 C G 390288 Benign not_specified 0.64483 0.67117 0.64237 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12163 402681 17 76482432 A G 390405 Benign not_specified 0.6351 . 0.65435 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12164 402684 17 76491194 G A 390294 Benign not_specified 0.21252 0.31701 0.23782 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12165 402685 17 76496492 A G 390408 Benign not_specified 0.85695 0.86251 0.92971 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12166 402686 17 76497920 C A 390418 Benign not_specified 0.64296 0.68229 0.73882 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12167 402687 17 76498692 C T 390419 Benign not_specified 0.86282 0.8652 0.93091 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12168 402688 17 76503527 G A 390220 Benign not_specified 0.32405 . 0.27935 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12169 402689 17 76503560 C A 390271 Benign not_specified 0.10766 . 0.08127 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12170 402690 17 76503593 T C 390223 Benign not_specified 0.65398 0.57368 0.57847 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12171 402692 17 76521121 T C 390224 Benign not_specified 0.19461 0.22338 0.14697 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12172 402693 17 76522785 C T 390305 Benign not_specified 0.12914 0.15255 0.09245 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12173 402694 17 76525565 A G 390274 Benign not_specified 0.62656 0.59035 0.59505 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12174 402695 17 76525759 G C 390276 Benign not_specified 0.14309 0.16571 0.1264 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12175 402696 17 76528591 C T 390422 Benign not_specified 0.52625 0.51006 0.46066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12176 402697 17 76528790 A G 390281 Benign not_specified 0.52075 0.52359 0.45887 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12177 402698 17 76528831 G A 390287 Benign not_specified 0.52053 0.52995 0.47424 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12178 402699 17 76535948 T C 390292 Benign not_specified 0.76415 . 0.73802 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12179 402700 17 76556811 C T 390309 Benign not_specified 0.29807 0.43551 0.34764 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12180 402701 17 76557862 T C 390424 Benign not_specified 0.95118 . 0.9401 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12181 166807 17 78013724 G C 176025 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.99378 . 0.95727 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12182 162850 17 78055758 T G 176509 Benign Primary_ciliary_dyskinesia|Ciliary_dyskinesia,... 0.52105 0.48872 0.46426 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12183 178711 17 78071052 T C 176648 Benign Primary_ciliary_dyskinesia|Glycogen_storage_di... 0.7372 . 0.71426 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12184 325769 17 78075462 G C 346306 Likely_benign Primary_ciliary_dyskinesia|Glycogen_storage_di... . . 0.11801 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12185 4020 17 78078656 G A 19059 Benign,_other Glycogen_storage_disease,_type_II|Acid_alpha-g... . . 0.01158 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12186 92484 17 78078709 T C 98393 Benign Primary_ciliary_dyskinesia|Glycogen_storage_di... 0.73158 0.73668 0.71446 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12187 680590 17 78079224 G A 669114 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12188 680260 17 78079305 C G 669116 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12189 680263 17 78079310 T C 668277 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12190 255363 17 78079509 T G 256515 Benign not_specified 0.66915 0.67576 0.60563 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12191 92485 17 78079544 C G 98394 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.67269 0.67586 0.60284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12192 92486 17 78079597 A G 98395 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.67254 0.67455 0.60084 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12193 92488 17 78079669 G A 98397 Benign/Likely_benign Glycogen_storage_disease,_type_II|not_specifie... 0.67241 0.67599 0.60244 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12194 680265 17 78081140 T C 669594 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12195 92489 17 78081526 A AGCAGCGG 98398 Benign Glycogen_storage_disease,_type_II|not_specifie... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12196 167111 17 78081551 T C 177734 Benign not_specified 0.6636 0.67407 0.60104 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12197 92491 17 78081707 G A 98400 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.69076 0.75026 0.60443 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12198 92461 17 78082504 G A 98370 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.67077 0.67844 0.60284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12199 680591 17 78083475 A G 669364 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12200 680269 17 78083565 G A 669366 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12201 92462 17 78083726 A G 98371 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.7302 0.73124 0.71166 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12202 680270 17 78084306 A G 669602 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12203 92464 17 78084507 G C 98373 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.67031 0.67604 0.60304 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12204 255352 17 78084688 C A 256521 Benign not_specified 0.66985 0.67483 0.59924 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12205 92466 17 78084769 G A 98375 Benign/Likely_benign Glycogen_storage_disease,_type_II|not_specifie... 0.20937 0.23091 0.15955 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12206 92470 17 78086846 A G 98379 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.73336 0.74408 0.71506 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12207 680592 17 78087428 G A 669119 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12208 92474 17 78090928 G A 98383 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.81916 0.75699 0.78934 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12209 680261 17 78091201 A T 669122 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12210 92476 17 78091405 G A 98385 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.7332 . 0.71186 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12211 92481 17 78092063 G A 98390 Benign Glycogen_storage_disease,_type_II|not_specifie... 0.6048 . 0.50939 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12212 495667 17 78092195 G A 487921 Likely_benign not_provided 0.00315 0.00344 0.002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12213 680272 17 78092844 C T 669367 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12214 325806 17 78093549 G T 330474 Likely_benign Glycogen_storage_disease,_type_II . . 0.15595 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12215 402484 17 78162170 G A 390428 Benign not_specified 0.2984 0.34806 0.30132 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12216 402485 17 78171944 G C 390226 Benign not_specified 0.35914 . 0.37021 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12217 325821 17 78183936 G A 346328 Benign Sanfilippo_syndrome . . 0.44828 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12218 92610 17 78184393 C T 98518 Benign Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS... 0.29394 0.35916 0.34585 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12219 92612 17 78187954 A G 98520 Benign Mucopolysaccharidosis,_MPS-III-A|not_specified... 0.46549 . 0.51418 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12220 255515 17 78188963 G A 256542 Benign not_specified|not_provided 0.54981 0.53559 0.55691 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12221 44151 17 79478007 G A 53319 Benign not_specified 0.31639 0.28824 0.1853 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12222 44150 17 79478019 G A 53318 Benign not_specified 0.75458 0.79022 0.75619 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12223 44147 17 79478916 G T 53315 Benign not_specified 0.41937 0.49892 0.55891 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12224 325850 17 79617534 A G 330578 Benign Retinitis_Pigmentosa,_Recessive . 0.55598 0.66873 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12225 325854 17 79617705 G A 347773 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.09039 0.07009 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12226 325857 17 79617830 G A 346443 Likely_benign Retinitis_Pigmentosa,_Recessive . 0.10024 0.07009 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12227 325858 17 79617871 A G 340825 Benign Retinitis_Pigmentosa,_Recessive . 0.56256 0.66873 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12228 325860 17 79618059 C T 340827 Benign Retinitis_Pigmentosa,_Recessive 0.43418 0.47475 0.58506 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12229 669504 17 79670122 G A 669126 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12230 768922 17 79687218 G A 704472 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12231 497969 17 79891147 T C 489393 Benign not_specified 0.98147 0.99508 0.98602 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12232 325923 17 79894886 C T 346454 Uncertain_significance Cutis_laxa,_recessive . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12233 402932 17 80377690 T G 390333 Benign not_specified 0.39966 . 0.48143 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12234 375663 18 673443 TTTAAAG T 362508 drug_response capecitabine_response_-_Efficacy|fluorouracil_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12235 260633 18 2705700 A G 256625 Benign not_specified 0.6083 0.68571 0.58467 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12236 260637 18 2707619 G A 256629 Benign not_specified 0.71153 0.69393 0.6903 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12237 260640 18 2724930 A T 256632 Benign not_specified|not_provided 0.32876 . 0.20627 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12238 260650 18 2763697 C T 256639 Benign not_specified 0.39654 0.37211 0.27576 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12239 260652 18 2771516 G T 256641 Benign not_specified 0.9822 0.99486 0.98043 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12240 326550 18 2917357 G A 346757 Benign Majeed_syndrome . . 0.54553 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12241 326612 18 2919606 A T 331014 Benign Majeed_syndrome . . 0.69129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12242 260433 18 2920288 G A 256646 Benign Majeed_syndrome|not_specified 0.24742 0.31306 0.36222 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12243 668717 18 2922450 T C 669699 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12244 676925 18 2927023 G T 669708 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12245 439863 18 2937646 A G 433667 Benign Majeed_syndrome 0.29009 . 0.41354 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12246 676922 18 2961033 T A 668327 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12247 226828 18 3067278 A G 230806 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.57065 0.5696 0.59445 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12248 226826 18 3075712 C A 230810 Benign not_specified 0.59186 0.53987 0.6228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12249 226825 18 3075746 G A 230812 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.16037 0.2142 0.18351 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12250 226821 18 3089522 G T 230819 Benign not_specified 0.8073 0.80922 0.80032 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12251 226819 18 3100429 G A 230821 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.36698 0.44224 0.34804 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12252 226815 18 3126811 A G 230838 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.17958 0.19973 0.25439 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12253 226796 18 3176040 C G 230883 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.74563 . 0.75719 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12254 226830 18 3188976 A G 230890 Benign not_specified|Cardiovascular_phenotype|not_pro... 0.34133 0.43735 0.44329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12255 674961 18 3447871 T C 669466 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12256 403532 18 3452222 CT C 390317 Benign not_specified . 0.32956 0.25559 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12257 777265 18 3879181 C T 704599 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12258 803471 18 6997818 A C 791881 Benign Poretti-Boltshauser_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12259 803472 18 7031986 T TA 791882 Benign Poretti-Boltshauser_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12260 803473 18 7034508 T G 791883 Benign Poretti-Boltshauser_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12261 9054 18 9117867 T C 24093 Benign Parkinson_disease,_mitochondrial|Mitochondrial... . 0.80008 0.77895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12262 678068 18 9119156 T C 669645 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12263 129703 18 9119489 A T 135149 Benign/Likely_benign Mitochondrial_complex_I_deficiency|MITOCHONDRI... 0.12981 0.08497 0.07508 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12264 369253 18 9134354 C G 353482 Likely_benign Mitochondrial_complex_I_deficiency . . 0.07548 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12265 261527 18 10691216 G A 256560 Benign not_specified 0.37783 0.34781 0.3143 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12266 261526 18 10691357 G A 256561 Benign not_specified 0.29533 0.28453 0.20108 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12267 261525 18 10696227 C T 256562 Benign not_specified 0.32077 0.29075 0.21925 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12268 261510 18 10741011 G A 256577 Benign not_specified 0.84275 0.8004 0.84365 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12269 261509 18 10748603 A T 256578 Benign not_specified 0.65637 . 0.64697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12270 261508 18 10752666 C T 256579 Benign not_specified 0.30924 0.26542 0.33187 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12271 261507 18 10758023 G A 256580 Benign not_specified 0.82392 0.79616 0.82308 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12272 261505 18 10762962 G A 256582 Benign not_specified 0.78909 0.78496 0.77895 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12273 261504 18 10763007 T C 256583 Benign not_specified 0.8364 0.8011 0.83806 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12274 261503 18 10787047 G A 256584 Benign not_specified 0.83677 0.85376 0.86242 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12275 626331 18 11876613 T G 614665 Benign Dystonia_25 0.05851 0.0628 0.04393 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12276 677942 18 12337688 G C 669627 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12277 683211 18 12343871 A G 669386 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12278 128287 18 12348285 T C 133736 Benign not_specified|Spinocerebellar_Ataxia,_Dominant... 0.77926 0.74925 0.70986 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12279 128286 18 12351342 C T 133735 Benign not_specified|Spinocerebellar_Ataxia,_Dominant... 0.68615 0.72054 0.6232 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12280 683207 18 12359215 A T 669388 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12281 136312 18 12359920 G A 140015 Benign not_specified|Spinocerebellar_Ataxia,_Dominant... 0.68484 0.71767 0.61961 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12282 326126 18 13882230 G C 346568 Benign Glucocorticoid_Deficiency . . 0.5012 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12283 326145 18 13883525 T A 340986 Benign Glucocorticoid_Deficiency . . 0.52117 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12284 326174 18 13883939 C T 346601 Benign Glucocorticoid_Deficiency . . 0.50659 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12285 326175 18 13884009 G A 330801 Benign Glucocorticoid_Deficiency . . 0.34105 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12286 326188 18 13884513 C T 346613 Benign Glucocorticoid_Deficiency . . 0.21426 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12287 326189 18 13884566 C T 346614 Benign Glucocorticoid_Deficiency . . 0.50459 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12288 326194 18 13884981 C T 341049 Conflicting_interpretations_of_pathogenicity Glucocorticoid_Deficiency|not_provided 0.00031 0.00073 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12289 678135 18 19399738 T A 669668 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12290 678067 18 19423963 GT G 669672 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12291 404060 18 19752072 T TACC 403233 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12292 684037 18 20516374 C A 669410 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12293 684038 18 20516381 C T 669414 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12294 673936 18 20555219 T C 669415 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12295 669107 18 20562518 G A 669685 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12296 670487 18 20568937 G A 669686 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12297 684045 18 20577330 G A 669693 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12298 673333 18 20577456 T A 669695 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12299 558880 18 21120381 T TA 549772 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12300 193982 18 21124907 A AC 191145 Benign/Likely_benign Niemann-Pick_disease_type_C1|not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12301 92701 18 21124945 C G 98608 Benign Niemann-Pick_disease,_type_C|Niemann-Pick_dise... 0.73466 0.71772 0.83167 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12302 129811 18 21148863 A G 135257 Benign/Likely_benign Niemann-Pick_disease,_type_C|Niemann-Pick_dise... 0.13809 0.14444 0.10982 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12303 326289 18 21166545 G C 347983 Likely_benign Niemann-Pick_disease,_type_C . . 0.09066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12304 403025 18 21413869 T C 390339 Benign not_specified 0.64954 0.66313 0.6244 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12305 403026 18 21437931 G C 390344 Benign not_specified 0.51728 0.49624 0.34365 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12306 403027 18 21441717 C T 390346 Benign not_specified 0.50315 0.49954 0.34066 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12307 285244 18 21494685 A G 269481 Uncertain_significance Epidermolysis_bullosa,_junctional|Laryngoonych... 0.00031 0.0003 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12308 255576 18 21511089 A G 256613 Benign Epidermolysis_bullosa,_junctional|Laryngoonych... . 0.99998 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12309 255577 18 21511172 G C 256614 Benign Epidermolysis_bullosa,_junctional|Laryngoonych... 0.96079 . 0.94888 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12310 255579 18 21526087 C T 256616 Likely_benign not_specified 0.54644 0.53632 0.35963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12311 255580 18 21529722 G A 256617 Benign Epidermolysis_bullosa,_junctional|Laryngoonych... 0.5446 0.53773 0.35903 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12312 402800 18 28611139 A C 390307 Benign not_specified 0.99992 0.99998 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12313 672125 18 28659724 T C 669745 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12314 672124 18 28660500 A G 668334 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12315 683467 18 28660611 T C 668344 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12316 683843 18 28663301 GCGAGGCAGGAGAATCACA G 669755 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12317 672123 18 28667964 G A 669220 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12318 683468 18 28669839 C T 669434 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12319 672107 18 28671212 T G 669225 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12320 671090 18 28673894 A G 668367 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12321 402801 18 28898294 A G 390348 Benign not_specified 0.47993 0.43443 0.36262 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12322 402802 18 28913599 C T 390312 Benign not_specified 0.43649 0.43435 0.32768 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12323 326416 18 28956904 C T 348146 Likely_benign Localized_AR_Hypotrichosis 0.14124 0.14315 0.12161 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12324 326418 18 28968371 G A 346896 Benign Localized_AR_Hypotrichosis 0.69433 0.74527 0.72065 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12325 326421 18 28968959 C T 341369 Benign Localized_AR_Hypotrichosis 0.77876 0.77427 0.80491 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12326 326441 18 28986333 A C 331139 Benign Localized_AR_Hypotrichosis 0.92434 0.92026 0.96586 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12327 326452 18 28993183 A G 348172 Benign Localized_AR_Hypotrichosis 0.39174 0.44302 0.39337 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12328 326458 18 28993501 C A 341405 Benign Localized_AR_Hypotrichosis 0.72193 0.72391 0.74321 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12329 683472 18 29078516 A C 669769 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12330 672609 18 32346149 G T 669801 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12331 683478 18 32373716 A T 669803 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12332 683479 18 32373736 A C 669804 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12333 671111 18 32459704 A G 669509 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12334 672662 18 32461896 A G 668453 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12335 672665 18 32462365 C T 669840 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12336 683485 18 32462418 C T 669842 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12337 672694 18 32464945 G C 668454 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12338 137181 18 32470291 G A 140884 Benign not_specified . 0.24061 0.26697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12339 159884 18 42456653 G A 169419 Likely_benign not_specified . 0.50727 0.49301 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12340 326725 18 42456670 C CTCTT 331273 Benign Schinzel-Giedion_syndrome|not_specified 0.5344 0.51458 0.49381 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12341 159885 18 42529996 G C 169420 Benign Schinzel-Giedion_syndrome|not_specified|not_pr... 0.1853 . 0.15675 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12342 159875 18 42533130 A G 169429 Benign Schinzel-Giedion_syndrome|not_specified|not_pr... 0.89959 0.87748 0.90695 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12343 159881 18 42643426 G A 169435 Conflicting_interpretations_of_pathogenicity Schinzel-Giedion_syndrome|not_specified . 0 0.0006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12344 326796 18 42646634 AT A 347040 Benign Schinzel-Giedion_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12345 673502 18 43481075 G A 656487 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12346 680068 18 43490602 G A 656488 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12347 402833 18 43497710 A G 390442 Benign Vici_syndrome|not_specified|not_provided 0.47968 0.4909 0.42692 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12348 683334 18 43666774 T C 669516 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12349 683333 18 43666786 C T 669518 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12350 377534 18 43669980 T C 375923 Benign not_specified 0.40997 0.38162 0.31589 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12351 683326 18 43670190 T C 668456 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12352 683323 18 43671400 T C 669523 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12353 683322 18 43672015 T C 669851 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12354 683320 18 43675364 T C 669525 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12355 683319 18 43678625 G C 668463 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12356 262524 18 44063718 AC A 256660 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.23966 0.26875 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12357 178394 18 44087489 C T 176692 Conflicting_interpretations_of_pathogenicity not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.00153 0.00465 0.0016 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12358 163895 18 44087504 G A 176555 Benign/Likely_benign not_specified|not_provided 0.0011 0.00144 0.0002 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12359 191090 18 44109033 T C 188895 Benign Deafness,_autosomal_recessive_77|not_specified . . 0.62021 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12360 47934 18 44126909 T C 57098 Benign/Likely_benign Deafness,_autosomal_recessive_77|not_specified... 0.77157 0.76751 0.69469 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12361 668869 18 44682891 C T 669542 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12362 675460 18 44702502 A C 669552 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12363 326924 18 47349546 A AT 348441 Uncertain_significance Diarrhea_with_Microvillus_Atrophy . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12364 326956 18 47350753 T C 347141 Uncertain_significance Diarrhea_with_Microvillus_Atrophy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12365 326957 18 47350832 A T 348461 Uncertain_significance Diarrhea_with_Microvillus_Atrophy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12366 326990 18 47352533 G A 347160 Benign Diarrhea_with_Microvillus_Atrophy . . 0.53534 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12367 327014 18 47375932 C G 348523 Benign Congenital_microvillous_atrophy|not_specified|... 0.46357 . 0.35403 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12368 327025 18 47398549 G A 348528 Benign not_specified|Diarrhea_with_Microvillus_Atrophy 0.21451 0.25335 0.29992 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12369 327028 18 47404124 A G 348529 Benign/Likely_benign not_specified|Diarrhea_with_Microvillus_Atrophy 0.04171 0.05913 0.05312 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12370 327030 18 47405304 A G 347190 Benign not_specified|Diarrhea_with_Microvillus_Atrophy 0.20262 . 0.28974 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12371 327031 18 47405425 T TGAG 347192 Benign not_specified|Diarrhea_with_Microvillus_Atrophy 0.3017 0.34201 0.40475 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12372 327053 18 47455923 C T 341822 Benign Congenital_microvillous_atrophy|not_specified|... 0.5137 0.48307 0.41134 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12373 327087 18 47563299 T C 341861 Benign Congenital_microvillous_atrophy|not_specified|... 0.97721 0.99309 0.97344 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12374 262560 18 47777244 C T 256670 Benign not_specified 0.30506 0.30029 0.19349 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12375 262557 18 47777358 T A 256673 Benign not_specified 0.32024 0.29607 0.29653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12376 262553 18 47778172 A G 256676 Benign not_specified 0.3185 0.31905 0.20088 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12377 680783 18 48572984 G A 668486 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12378 677079 18 48581601 C A 669334 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12379 680784 18 48593133 G A 669338 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12380 680785 18 48603403 T C 669342 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12381 327175 18 48609968 A G 347320 Benign Myhre_syndrome|Hereditary_hemorrhagic_telangie... . . 0.20268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12382 327208 18 48610697 CAAGAA C 331704 Benign Myhre_syndrome|Hereditary_hemorrhagic_telangie... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12383 327211 18 48610831 A C 347339 Benign Myhre_syndrome|Hereditary_hemorrhagic_telangie... . . 0.3782 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12384 769443 18 48723145 CGCCGCCGCG C 704620 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12385 327228 18 52889967 T C 347356 Benign Pitt-Hopkins_syndrome . . 0.39736 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12386 327231 18 52890160 A G 341965 Benign Pitt-Hopkins_syndrome . . 0.44369 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12387 327244 18 52890946 T TTC 348698 Benign Pitt-Hopkins_syndrome . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12388 327246 18 52891178 A G 341976 Likely_benign Pitt-Hopkins_syndrome . . 0.0024 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12389 327268 18 52892561 GACT G 348735 Likely_benign Pitt-Hopkins_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12390 327285 18 52893504 AT A 342011 Benign Pitt-Hopkins_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12391 327287 18 52893926 G GA 342018 Benign Pitt-Hopkins_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12392 327293 18 52894479 C CAA 342031 Benign Pitt-Hopkins_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12393 93544 18 52895531 T C 99449 Benign Pitt-Hopkins_syndrome|History_of_neurodevelopm... 0.36468 0.37136 0.34245 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12394 670816 18 52896000 A G 668503 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12395 670815 18 52896003 A G 669348 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12396 668653 18 52896630 G T 669558 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12397 672226 18 52901607 A G 669561 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12398 670687 18 52922000 T C 669572 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12399 670703 18 52924317 C G 669353 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12400 673242 18 52924695 C T 669584 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12401 672225 18 52927400 T C 668507 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12402 160089 18 52942827 G A 169448 Benign not_specified|not_provided 0.53345 0.48925 0.57029 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12403 160083 18 53070914 G A 169454 Benign not_specified|not_provided . 0.21729 0.19229 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12404 679855 18 53177670 T C 669880 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12405 674957 18 53177740 A T 668513 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12406 674956 18 53177774 G C 669372 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12407 674955 18 53178061 G A 668520 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12408 803498 18 53303101 C G 791872 Benign Pitt-Hopkins_syndrome . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12409 327316 18 55212316 G T 348769 Benign Protoporphyria,_erythropoietic,_1 . . 0.22863 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12410 327328 18 55213058 A C 342067 Benign Protoporphyria,_erythropoietic,_1 . . 0.17492 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12411 327335 18 55213381 C A 347443 Benign Protoporphyria,_erythropoietic,_1 . . 0.76538 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12412 327366 18 55215119 T C 331802 Benign Protoporphyria,_erythropoietic,_1 . . 0.9992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12413 327373 18 55215418 A G 348807 Benign Protoporphyria,_erythropoietic,_1 . . 0.9992 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12414 255312 18 55221648 T C 256682 Benign Protoporphyria,_erythropoietic,_1|not_specified 0.76465 0.70297 0.75759 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12415 255311 18 55226383 G C 256683 Benign Protoporphyria,_erythropoietic,_1|not_specified 0.76365 . 0.7496 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12416 327434 18 55240505 C T 331897 Benign Protoporphyria,_erythropoietic,_1 0.12141 0.10291 0.05172 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12417 550 18 55247454 G A 15589 Benign Jaundice|Erythema|Protoporphyria,_erythropoiet... 0.2588 . 0.33467 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12418 327440 18 55313783 A T 347495 Benign Progressive_familial_intrahepatic_cholestasis . . 0.14716 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12419 327445 18 55314466 A G 342149 Benign Progressive_familial_intrahepatic_cholestasis . . 0.14736 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12420 327449 18 55314820 C A 331916 Benign Progressive_familial_intrahepatic_cholestasis . . 0.46605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12421 259823 18 55315959 G A 256688 Benign Progressive_familial_intrahepatic_cholestasis|... 0.18116 0.23062 0.14058 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12422 259828 18 55362532 T G 256696 Benign Progressive_familial_intrahepatic_cholestasis|... 0.9897 . 0.99261 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12423 259827 18 55364830 G A 256697 Benign not_specified 0.41181 0.47626 0.44209 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12424 259826 18 55364852 A G 256698 Benign Progressive_familial_intrahepatic_cholestasis|... 0.99308 . 0.99461 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12425 225996 18 55816791 G A 227795 drug_response diuretics_response_-_Efficacy|hydrochlorothiaz... 0.34034 0.28408 0.27616 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12426 417001 18 55996244 C T 402844 Benign not_provided 0.00404 0.00412 0.0012 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12427 327514 18 56934863 GCC G 347559 Likely_benign Anophthalmia_-_microphthalmia . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12428 327519 18 56934917 G A 348931 Likely_benign Anophthalmia_-_microphthalmia . . 0.21446 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12429 327521 18 56934964 C T 342194 Likely_benign Anophthalmia_-_microphthalmia . . 0.20567 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12430 327539 18 56995396 A G 348942 Benign Combined_deficiency_of_factor_V_and_factor_VII... . . 0.32608 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12431 259793 18 57000303 G A 256703 Benign not_specified 0.34953 0.31633 0.35603 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12432 327583 18 57098195 G T 342223 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.79273 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12433 327588 18 57098344 C T 342225 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.82109 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12434 327591 18 57098391 G A 348981 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.85982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12435 327594 18 57098636 C G 347639 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.4401 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12436 327596 18 57098713 TG T 348983 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12437 327597 18 57098742 G T 342230 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.85963 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12438 327603 18 57099335 A G 348991 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.85903 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12439 327620 18 57100187 G GT 342242 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12440 327633 18 57100410 T C 347684 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.4349 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12441 327639 18 57100768 G A 349014 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.85523 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12442 327640 18 57100779 C T 347693 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.54054 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12443 327645 18 57100898 A G 347695 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.85264 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12444 327646 18 57100913 C T 332078 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.85124 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12445 327655 18 57101120 G A 342260 Likely_benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.09365 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12446 327683 18 57102326 A C 332119 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . 0.30132 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12447 262349 18 57103126 G A 256709 Conflicting_interpretations_of_pathogenicity Hennekam_lymphangiectasia-lymphedema_syndrome_... 0.00976 0.01004 0.00699 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12448 262355 18 57115203 T C 256712 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_... 0.61049 0.53108 0.54094 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12449 262353 18 57134152 A G 256714 Benign not_specified 0.9541 0.9873 0.95627 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12450 262352 18 57136869 A G 256715 Benign not_specified 0.45502 0.453 0.43231 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12451 803505 18 57136943 G A 791879 Benign Hennekam_lymphangiectasia-lymphedema_syndrome_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12452 225961 18 57851097 T C 227796 drug_response antipsychotics_response_-_Toxicity/ADR . . 0.24002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12453 226003 18 57882787 C A 227797 drug_response amisulpride_response_-_Toxicity/ADR|aripiprazo... . . 0.35124 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12454 518281 18 59805532 T C 508906 Benign History_of_neurodevelopmental_disorder|Multipl... . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12455 259177 18 59992547 G A 256719 Benign/Likely_benign Osteopetrosis|Paget_disease_of_bone|not_specified . . 0.23682 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12456 193259 18 59992577 T C 190423 Benign/Likely_benign Osteopetrosis|Paget_disease_of_bone|not_specified . 0.125 0.23502 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12457 259183 18 60036083 A G 256723 Benign/Likely_benign Osteopetrosis|Paget_disease_of_bone|not_specified 0.95348 0.95622 0.98083 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12458 684156 18 67671745 T C 669610 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12459 684155 18 67672139 T C 669881 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12460 130188 18 67718688 A G 135635 Benign not_specified 0.80269 0.91844 0.79074 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12461 684154 18 67741490 G C 669616 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12462 670493 18 67788599 T C 668532 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12463 684135 18 67857478 T A 669622 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12464 684134 18 67858249 T C 669890 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12465 327761 18 67863850 T TCTC 349148 Benign not_specified|Disease_Association_NOS|not_prov... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12466 130179 18 67871343 A C 135626 Benign not_specified 0.72727 . 0.71226 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12467 130821 18 72343008 T C 136266 Likely_benign not_specified 0.99875 0.98983 0.99361 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12468 130826 18 72776121 G A 136271 Likely_benign not_specified 0.76151 0.83219 0.76038 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12469 327774 18 72922851 AG A,AGGG 349158 Benign Aural_atresia,_congenital . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
12470 327778 18 72922958 A AG 332189 Uncertain_significance Aural_atresia,_congenital . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12471 193292 18 77440128 T G 190456 Benign not_specified . 0.67924 0.65535 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12472 259524 18 77470834 C T 256726 Benign not_specified . . 0.73502 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12473 803507 18 77488698 G GTGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCA 791884 Benign Congenital_Cataracts,_Facial_Dysmorphism,_and_... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12474 128865 18 77513721 T C 134313 Benign Congenital_Cataracts,_Facial_Dysmorphism,_and_... 0.89643 0.96657 0.89517 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12475 773075 19 804921 C T 705350 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12476 667820 19 851976 G A 670430 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12477 137199 19 855966 C A 140902 Benign not_specified 0.13142 . 0.04852 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12478 402532 19 860852 G C 390449 Benign not_specified 0.54052 0.59138 0.4409 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12479 286524 19 917526 A G 270761 Benign not_specified|not_provided 0.12123 0.25911 0.1863 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12480 447660 19 920642 T A 442261 Benign not_specified . 0.78271 0.78395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12481 328217 19 1206602 C T 332571 Likely_benign Peutz-Jeghers_syndrome . . 0.00379 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12482 256203 19 1207238 G T 256769 Benign not_specified 0.22951 0.32474 0.35344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12483 256205 19 1219274 G A 256771 Benign not_specified 0.42364 0.46605 0.53015 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12484 256206 19 1219443 G GCGGGGGC 256772 Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12485 328243 19 1228191 T C 332606 Benign Peutz-Jeghers_syndrome . . 0.70787 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12486 671566 19 1384246 C T 668709 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12487 683138 19 1388320 G A 670152 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12488 129702 19 1388538 C T 135148 Likely_benign Leigh_syndrome|Mitochondrial_complex_I_deficie... 0.54062 0.55022 0.45567 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12489 684336 19 1391327 C T 669861 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12490 683141 19 1391361 A G 669623 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12491 21067 19 1399056 C T 33919 Benign Deficiency_of_guanidinoacetate_methyltransfera... 0.15293 0.12942 0.11322 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12492 440243 19 1438865 C T 433894 Benign not_specified 0.04859 0.08728 0.04932 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12493 430490 19 1496404 G A 422250 Uncertain_significance not_provided 0.00085 0.00083 0.0004 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12494 381531 19 2251247 A G 377366 Benign/Likely_benign Persistent_Mullerian_duct_syndrome|not_specifi... . 0.00839 0.00479 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12495 518297 19 2251512 T A 508922 Benign Persistent_Mullerian_duct_syndrome . 0.82257 0.91893 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12496 46571 19 3586543 G A 55736 Benign not_specified 0.25965 0.14678 0.22684 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12497 682948 19 3589413 T C 669896 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12498 46572 19 3589435 C T 55737 Benign not_specified 0.2322 . 0.20447 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12499 263264 19 3595032 C T 256888 Benign not_specified 0.40766 0.42364 0.32967 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12500 263269 19 3595794 A G 256889 Benign not_specified 0.70316 0.59817 0.54173 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12501 263267 19 3600198 C T 256891 Benign not_specified . . 0.05371 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12502 328952 19 3769753 G A 343371 Benign Macular_degeneration|Cone-Rod_Dystrophy,_Dominant . . 0.81689 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12503 329155 19 3924771 AT A 333494 Benign Cerebellar_ataxia,_Cayman_type . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12504 329196 19 3927176 A G 333507 Benign Cerebellar_ataxia,_Cayman_type . . 0.83287 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12505 128959 19 3977486 A G 134406 Benign not_specified|not_provided 0.85348 0.84985 0.91314 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12506 128958 19 3979408 A G 134405 Benign not_specified|not_provided 0.85353 0.84927 0.91314 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12507 561820 19 4094775 G A 553028 Benign not_provided . . 0.45447 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12508 40835 19 4099187 T C 49305 Benign Cardiofaciocutaneous_syndrome_4|not_specified|... 0.74413 0.77176 0.77356 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12509 40816 19 4101062 G T 49286 Benign Cardiofaciocutaneous_syndrome_4|Rasopathy|not_... 0.41794 0.54717 0.43331 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12510 561536 19 4102132 A C 553038 Benign not_provided . . 0.33007 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12511 561366 19 4117290 T C 553042 Benign not_provided . . 0.79553 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12512 403542 19 4818378 T C 390426 Benign not_specified 0.73151 0.6652 0.72564 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12513 242770 19 5844792 A C 32755 . . . . 0.2528 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12514 768957 19 5866736 T C 705303 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12515 330240 19 5903807 G T 349414 Likely_benign Mitochondrial_complex_I_deficiency . 0.67498 0.68151 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12516 330244 19 5903936 T C 334435 Likely_benign Mitochondrial_complex_I_deficiency . 0.74887 0.72664 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12517 330250 19 6494502 T C 344317 Benign Dystonia|Leukodystrophy,_hypomyelinating,_6 . . 0.40156 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12518 330285 19 6681991 G A 349446 Benign Macular_degeneration|C3_deficiency|Atypical_he... 0.08696 0.08525 0.09125 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12519 330310 19 6707129 G A 350452 Likely_benign Macular_degeneration|C3_deficiency|Atypical_he... 0.00262 0.00209 0.0008 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12520 403601 19 6821625 C T 390471 Benign not_specified 0.14563 0.12702 0.09285 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12521 403602 19 6822219 T C 390329 Benign not_specified 0.22143 0.26094 0.21126 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12522 330380 19 7114288 C T 350496 Benign Leprechaunism_syndrome|Pineal_hyperplasia_AND_... . . 0.71765 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12523 330433 19 7116778 TG T 350526 Benign Leprechaunism_syndrome|Pineal_hyperplasia_AND_... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12524 330436 19 7116963 T C 334616 Benign Leprechaunism_syndrome|Pineal_hyperplasia_AND_... . . 0.8774 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12525 14707 19 7125518 C T 29746 Conflicting_interpretations_of_pathogenicity Diabetes_mellitus_type_2|Insulin-resistant_dia... . 0.009 0.00499 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12526 439832 19 7166138 G A 433296 Benign not_specified 0.20206 0.23924 0.20427 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12527 198697 19 7166376 C T 195858 Benign Leprechaunism_syndrome|Pineal_hyperplasia_AND_... 0.22551 . 0.24481 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12528 439831 19 7167951 T G 433297 Benign not_specified 0.23143 . 0.2478 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12529 439830 19 7170517 A G 433299 Benign not_specified 0.54183 0.47221 0.54972 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12530 193063 19 7293898 G C 190228 Benign Leprechaunism_syndrome|Pineal_hyperplasia_AND_... . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12531 261324 19 7593589 C T 257262 Benign/Likely_benign Mucolipidosis_type_IV|not_specified|not_provided 0.30186 0.28745 0.25559 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12532 129977 19 7606908 G C 135423 Benign/Likely_benign not_specified|Spastic_Paraplegia,_Recessive|no... 0.17815 . 0.11841 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12533 330520 19 7607441 C T 344527 Benign/Likely_benign not_specified|Spastic_Paraplegia,_Recessive 0.34512 0.28137 0.24381 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12534 330522 19 7607564 T C 334701 Benign not_specified|Spastic_Paraplegia,_Recessive|no... 0.69964 0.63855 0.69449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12535 129978 19 7615903 G A 135424 Benign/Likely_benign not_specified|Spastic_Paraplegia,_Recessive 0.23216 0.2136 0.20208 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12536 380864 19 7619760 A C 379673 Benign not_specified 0.35639 0.3688 0.34705 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12537 380865 19 7620116 A G 376888 Benign not_specified 0.35905 0.39249 0.34685 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12538 680709 19 7620914 A G 668986 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12539 378402 19 7621475 T G 376892 Benign not_specified 0.178 0.12977 0.1256 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12540 680710 19 7623474 T C 670169 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12541 667947 19 7623621 T TTCTC 670093 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12542 240699 19 7623941 G A 243570 Conflicting_interpretations_of_pathogenicity Spastic_paraplegia_39|not_specified|Spastic_Pa... 0.0103 0.01098 0.00419 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12543 680711 19 7624335 C T 670174 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12544 429198 19 7626013 AC A 422303 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12545 683454 19 7694393 G A 668992 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12546 683460 19 7695977 C G 670177 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12547 683462 19 7696138 G A 670415 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12548 403501 19 7698320 C T 390372 Benign not_specified 0.29894 0.39025 0.2478 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12549 260104 19 7703605 C T 257265 Benign Familial_hemophagocytic_lymphohistiocytosis|no... 0.42657 0.40437 0.48243 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12550 260087 19 7710040 T C 257278 Benign not_specified 0.41943 0.39318 0.52696 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12551 260088 19 7710210 A G 257280 Benign not_specified 0.42543 0.46196 0.51637 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12552 260089 19 7711221 T C 257281 Benign Familial_hemophagocytic_lymphohistiocytosis|no... 0.41556 0.46264 0.50419 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12553 260092 19 7712161 C T 257284 Benign not_specified 0.10117 0.10568 0.05611 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12554 260094 19 7712277 A G 257286 Benign Familial_hemophagocytic_lymphohistiocytosis|He... 0.66731 0.63516 0.70607 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12555 260100 19 7712425 G C 257290 Benign not_specified 0.34413 0.35822 0.3157 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12556 260102 19 7712585 T G 257292 Benign not_specified 0.66639 . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12557 137647 19 7992976 T C 141350 Benign not_specified|not_provided 0.03245 0.03077 0.01418 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12558 137657 19 8000045 C T 141360 Benign not_specified 0.27046 0.26128 0.17272 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12559 508144 19 8612914 G A 508029 Benign not_specified 0.07063 0.08549 0.1284 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12560 518307 19 8645786 A C 508932 Benign Weill-Marchesani_syndrome_1|not_provided 0.99985 0.99989 0.9998 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12561 330587 19 8651562 A G 349596 Benign Weill-Marchesani_syndrome|not_provided 0.21728 0.20834 0.1847 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12562 330610 19 8669931 G C 344604 Benign Weill-Marchesani_syndrome|Weill-Marchesani_syn... 0.7817 0.7994 0.89397 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12563 770806 19 10084460 A G 705381 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12564 180725 19 10218030 C T 178886 association Cataplexy_and_narcolepsy . . 0.66554 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12565 180727 19 10222195 A G 178887 association Cataplexy_and_narcolepsy . . 0.6224 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12566 180728 19 10226052 G A 178888 association Cataplexy_and_narcolepsy . . 0.65555 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12567 180730 19 10227010 A G 178889 association Cataplexy_and_narcolepsy . . 0.64317 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12568 680553 19 10253184 A G 669651 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12569 681295 19 10257245 G A 669394 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12570 257538 19 10265248 T C 256731 Benign not_specified|Dementia,_Deafness,_and_Sensory_... 0.48824 0.51797 0.53335 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12571 257537 19 10265312 T C 256732 Benign not_specified|Dementia,_Deafness,_and_Sensory_... 0.9897 . 0.99581 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12572 257536 19 10267077 T C 256733 Benign not_specified|Dementia,_Deafness,_and_Sensory_... 0.49116 0.51876 0.53395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12573 327914 19 10270746 GAA GA,G 332327 Benign Dementia,_Deafness,_and_Sensory_Neuropathy . . . 1|2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
12574 137133 19 10273372 T C 140836 Benign not_specified|Dementia,_Deafness,_and_Sensory_... 0.08627 0.13196 0.19828 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12575 679319 19 10279189 T C 669428 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12576 679318 19 10284778 A G 669912 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12577 506085 19 10334663 T G 497508 Benign not_specified 0.6327 . 0.55192 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12578 380038 19 10426422 A C 377003 Benign not_specified 0.46875 0.56755 0.49281 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12579 380037 19 10426628 T C 379161 Benign not_specified 0.51362 0.48937 0.49281 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12580 673301 19 10463480 C G 668546 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12581 673300 19 10464687 A G 668547 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12582 677727 19 10467565 C T 669437 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12583 137868 19 10468668 C G 141571 Benign/Likely_benign not_specified|Familial_Atypical_Mycobacteriosi... 0.12312 0.12195 0.09645 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12584 259041 19 10472933 A G 256741 Benign not_specified|Familial_Atypical_Mycobacteriosi... 0.52645 0.50821 0.53315 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12585 137865 19 10473138 A G 141568 Benign not_specified|Familial_Atypical_Mycobacteriosi... 0.27305 0.32171 0.32987 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12586 673299 19 10473392 G A 669946 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12587 677150 19 10473570 T G 669654 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12588 137864 19 10475649 C T 141567 Benign/Likely_benign not_specified|Familial_Atypical_Mycobacteriosi... 0.05774 0.06402 0.04373 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12589 259040 19 10475652 C A 256742 Benign not_specified|Familial_Atypical_Mycobacteriosi... 0.22459 0.27684 0.26578 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12590 327965 19 10490402 A G 342535 Benign Familial_Atypical_Mycobacteriosis,_Autosomal_R... . . 0.17871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12591 256866 19 10883126 C G 256744 Benign not_specified 0.56635 0.55278 0.55711 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12592 210855 19 10887762 G GCCTCTGA 208503 Likely_benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12593 679311 19 10897613 G A 669952 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12594 679312 19 10904689 G C 669670 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12595 676520 19 11129600 C T 668593 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12596 676521 19 11134090 A G 669691 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12597 226710 19 11221454 T C 230979 Conflicting_interpretations_of_pathogenicity Familial_hypercholesterolemia_1|not_specified|... . 0.99993 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12598 251997 19 11227554 C T 246298 Benign/Likely_benign Familial_hypercholesterolemia_1|not_specified 0.11103 0.11584 0.08886 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12599 36460 19 11231203 G A 45123 Conflicting_interpretations_of_pathogenicity Familial_hypercholesterolemia|Familial_hyperch... 0.009 0.00694 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12600 252262 19 11233941 A G 246555 Benign/Likely_benign Familial_hypercholesterolemia_1|not_specified 0.73874 0.77621 0.78015 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12601 252277 19 11238548 A G 246570 Likely_benign Familial_hypercholesterolemia_1 . . 0.85663 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12602 265907 19 11238807 C T 260662 Benign Familial_hypercholesterolemia_1 0.22044 0.24761 0.23183 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12603 265908 19 11241877 G A 260663 Benign Familial_hypercholesterolemia_1 0.22208 . 0.23403 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12604 265910 19 11242044 G A 260665 Benign/Likely_benign Familial_hypercholesterolemia_1 0.217 0.24639 0.23363 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12605 328058 19 11242307 G C 332460 Likely_benign Familial_hypercholesterolemia_1 . 0.84243 0.752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12606 328064 19 11242496 G A 349296 Likely_benign Familial_hypercholesterolemia_1 . . 0.3115 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12607 328070 19 11242658 T C 348008 Likely_benign Familial_hypercholesterolemia_1 . . 0.63718 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12608 328072 19 11242765 A G 332467 Likely_benign Familial_hypercholesterolemia_1 . . 0.23443 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12609 328086 19 11243160 G A 349320 Likely_benign Familial_hypercholesterolemia_1 . . 0.23443 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12610 328089 19 11243223 TCTA T 349323 Likely_benign Familial_hypercholesterolemia_1 . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12611 328091 19 11243254 T C 332482 Likely_benign Familial_hypercholesterolemia_1 . . 0.80092 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12612 328095 19 11243328 C G 342679 Likely_benign Familial_hypercholesterolemia_1 . . 0.23423 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12613 328097 19 11243346 T C 348015 Likely_benign Familial_hypercholesterolemia_1 . . 0.16374 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12614 328099 19 11243368 T C 348025 Likely_benign Familial_hypercholesterolemia_1 . . 0.23423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12615 328101 19 11243422 C T 349330 Likely_benign Familial_hypercholesterolemia_1 . . 0.11042 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12616 328102 19 11243445 A G 349331 Likely_benign Familial_hypercholesterolemia_1 . . 0.25938 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12617 328103 19 11243502 T C 342685 Likely_benign Familial_hypercholesterolemia_1 . . 0.23423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12618 328104 19 11243592 G T 332486 Likely_benign Familial_hypercholesterolemia_1 . . 0.23423 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12619 328122 19 11244187 TTA T 342698 Likely_benign Familial_hypercholesterolemia_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12620 518283 19 11319491 G A 508908 Benign Adams-Oliver_syndrome_2 0.48953 0.53865 0.44169 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12621 518285 19 11326119 A G 508910 Benign Adams-Oliver_syndrome_2 0.57521 . 0.5008 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12622 518286 19 11326125 C T 508911 Benign Adams-Oliver_syndrome_2 0.52773 0.55647 0.45268 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12623 518287 19 11327571 C T 508912 Benign Adams-Oliver_syndrome_2 0.36592 0.40351 0.27836 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12624 518288 19 11327608 T C 508913 Benign Adams-Oliver_syndrome_2 0.68043 . 0.59345 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12625 518289 19 11327626 A G 508914 Benign Adams-Oliver_syndrome_2 0.66325 0.64357 0.57947 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12626 518290 19 11332570 T A 508915 Benign Adams-Oliver_syndrome_2 0.28553 . 0.3135 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12627 261359 19 11358799 G A 256758 Benign Adams-Oliver_syndrome_2|not_specified 0.5524 0.6466 0.51957 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12628 261356 19 11363146 A T 256759 Benign Adams-Oliver_syndrome_2|not_specified 0.60784 0.69664 0.59125 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12629 262567 19 11541712 T C 257300 Benign not_specified 0.93655 0.96342 0.91234 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12630 94078 19 11558240 T C 99980 Benign Polycystic_liver_disease_1|not_specified 0.99231 0.9922 0.99461 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12631 94080 19 11558340 AGAGGAG A,AGAG 99982 Benign not_specified . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
12632 684380 19 12760511 T C 670033 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12633 684379 19 12760664 T C 669713 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12634 684378 19 12762783 T C 669716 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12635 684376 19 12763432 A C 668607 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12636 684375 19 12766370 G A 669539 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12637 558861 19 12768391 G A 549786 Benign not_provided 0.54405 0.53105 0.36781 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12638 684373 19 12771823 A G 670038 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12639 93207 19 12772090 C T 99114 Benign Deficiency_of_alpha-mannosidase|not_specified|... 0.36983 . 0.2484 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12640 93218 19 12772165 G A 99125 Benign Deficiency_of_alpha-mannosidase|not_specified|... 0.45356 . 0.32788 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12641 684372 19 12772263 T C 669718 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12642 93217 19 12774208 G C 99124 Benign Deficiency_of_alpha-mannosidase|not_specified|... 0.31855 0.25665 0.23942 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12643 684371 19 12774862 G A 669722 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12644 260001 19 12996740 A G 256779 Benign Congenital_dyserythropoietic_anemia|not_specified 0.27049 0.43921 0.44429 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12645 208504 19 13010520 A G 205029 Benign Glutaric_acidemia|Glutaric_aciduria,_type_1 0.63889 0.61302 0.72045 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12646 668052 19 13319314 C G 669540 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12647 668051 19 13321122 A C 668613 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12648 388018 19 13322955 G T 379328 Benign/Likely_benign History_of_neurodevelopmental_disorder|not_spe... 0.00064 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12649 678196 19 13324818 G A 669548 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12650 678195 19 13324862 C T 669549 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12651 668050 19 13325733 C T 669747 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12652 678193 19 13335432 G A 668623 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12653 668778 19 13337966 G A 669756 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12654 678182 19 13345526 G A 668641 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12655 678179 19 13356150 T G 669789 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12656 680063 19 13386860 C T 668657 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12657 680060 19 13394337 A G 668658 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12658 680059 19 13395726 C T 669571 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12659 680058 19 13397945 T C 668661 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12660 680057 19 13410235 G T 669792 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12661 680056 19 13410379 G A 669579 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12662 257510 19 13411482 G A 256786 Benign not_specified 0.64523 0.74909 0.73922 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12663 680055 19 13418707 C T 670110 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12664 668029 19 13444874 C T 668686 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12665 668028 19 13444891 C G 670125 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12666 678170 19 13445144 C T 669844 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12667 93559 19 13445208 C T 99464 Benign History_of_neurodevelopmental_disorder|not_spe... 0.6437 0.68568 0.64117 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12668 668027 19 13445573 G A 668687 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12669 678169 19 13446966 T C 669849 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12670 678168 19 13616693 C T 668704 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12671 128619 19 14038791 C T 134068 Benign History_of_neurodevelopmental_disorder|not_spe... 0.19352 0.21038 0.125 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12672 156715 19 14877799 G C 166575 not_provided not_provided 0.31875 0.22187 . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12673 328357 19 15270583 G A 332715 Benign Cerebral_autosomal_dominant_arteriopathy_with_... . . 0.6238 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12674 328360 19 15270665 C T 349437 Benign Cerebral_autosomal_dominant_arteriopathy_with_... . . 0.6238 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12675 328361 19 15270805 C A 342885 Benign Cerebral_autosomal_dominant_arteriopathy_with_... . . 0.6234 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12676 328363 19 15270910 A G 332719 Likely_benign Cerebral_autosomal_dominant_arteriopathy_with_... . . 0.01098 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12677 256152 19 15271771 G A 256792 Benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.7349 0.75907 0.62939 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12678 811011 19 15273248 A C 800100 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12679 256145 19 15273381 A G 256798 Benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.92327 . 0.86901 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12680 811010 19 15276143 C T 800101 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12681 256141 19 15276919 G A 256802 Benign not_specified 0.92219 0.87172 0.86661 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12682 811008 19 15276923 C T 800102 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12683 256140 19 15278057 A G 256803 Benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.92365 0.87407 0.87001 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12684 811007 19 15281386 C A 800103 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12685 256138 19 15285052 T C 256805 Benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.92614 0.88124 0.87181 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12686 811005 19 15289613 A T 800107 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12687 811006 19 15290125 G A 800109 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12688 811009 19 15292366 C T 800112 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12689 256130 19 15292437 T C 256812 Benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.79049 0.80193 0.73902 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12690 256129 19 15295134 G A 256813 Benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.56643 0.64274 0.51997 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12691 256120 19 15299051 G A 256822 Benign/Likely_benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.01554 0.02072 0.00359 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12692 256118 19 15300069 T C 256823 Benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.88905 0.85723 0.85423 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12693 256117 19 15300136 A G 256824 Benign/Likely_benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.03152 0.02557 0.01518 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12694 256148 19 15302844 T C 256825 Benign Cerebral_autosomal_dominant_arteriopathy_with_... 0.88928 0.85812 0.85583 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12695 328441 19 15651539 GCC G 348283 Benign Congenital_ichthyosiform_erythroderma . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12696 328452 19 15662465 T G 342948 Benign Congenital_ichthyosiform_erythroderma . . 0.83027 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12697 328454 19 15662544 C A 348301 Benign Congenital_ichthyosiform_erythroderma . . 0.51218 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12698 328458 19 15662732 C A 349507 Benign Congenital_ichthyosiform_erythroderma . . 0.41574 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12699 770460 19 15905468 T G 704825 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12700 770462 19 15918500 G A 704830 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12701 225969 19 15990431 C T 227800 drug_response warfarin_response_-_Other|acenocoumarol_respon... 0.22543 0.27258 0.23682 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12702 496549 19 16591464 G A 487993 Benign Familial_hypertrophic_cardiomyopathy_19|not_sp... 0.65393 . 0.65056 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12703 496548 19 16593573 G A 488044 Benign Familial_hypertrophic_cardiomyopathy_19|not_sp... 0.16977 0.14915 0.14457 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12704 496547 19 16601168 G A 487994 Benign Familial_hypertrophic_cardiomyopathy_19|not_pr... 0.12956 0.12206 0.11402 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12705 496546 19 16601194 C T 487995 Benign Familial_hypertrophic_cardiomyopathy_19|not_sp... 0.668 0.70145 0.65895 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12706 669942 19 17450578 C T 668721 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12707 672549 19 17451599 T C 669873 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12708 137601 19 17952185 G T 141304 Benign not_specified|Severe_Combined_Immune_Deficiency 0.11899 0.16158 0.11382 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12709 256199 19 18001686 G A 256834 Benign/Likely_benign Thyroid_dyshormonogenesis_1|not_specified|Thyr... 0.19852 0.1795 0.1246 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12710 328548 19 18004912 T C 349547 Likely_benign Thyroid_Hormonogenesis_Defect . . 0.15196 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12711 328572 19 18170384 G A 343055 Benign Familial_Atypical_Mycobacteriosis,_Autosomal_R... 0.28485 0.30902 0.1863 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12712 328587 19 18180413 C G 332869 Benign not_specified|Familial_Atypical_Mycobacteriosi... 0.27264 . 0.2516 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12713 328588 19 18180451 A G 348404 Benign not_specified|Familial_Atypical_Mycobacteriosi... 0.29341 0.28942 0.26857 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12714 328596 19 18186575 G A 348413 Benign not_specified|Familial_Atypical_Mycobacteriosi... 0.25404 . 0.22983 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12715 328597 19 18186618 T C 343076 Benign/Likely_benign Disseminated_atypical_mycobacterial_infection|... 0.25319 0.27713 0.22943 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12716 328599 19 18191664 C G 348415 Benign not_specified|Familial_Atypical_Mycobacteriosi... 0.09496 0.11854 0.12999 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12717 497079 19 18272190 A C 488503 Benign not_specified . 0.89606 0.92392 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12718 803546 19 18273047 T C 791917 Benign Megalencephaly-polymicrogyria-polydactyly-hydr... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12719 518294 19 18279638 T C 508919 Benign Megalencephaly-polymicrogyria-polydactyly-hydr... 0.85107 0.88 0.86242 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12720 468323 19 18280096 G A 469943 Benign Megalencephaly-polymicrogyria-polydactyly-hydr... 0.03669 0.04359 0.01957 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12721 255121 19 18895218 G A 256838 Benign not_specified 0.29239 0.27195 0.19868 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12722 255119 19 18895865 C T 256840 Benign/Likely_benign Pseudoachondroplastic_spondyloepiphyseal_dyspl... 0.05313 0.04955 0.01957 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12723 255118 19 18901618 C G 256843 Benign not_specified 0.14943 0.1223 0.11442 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12724 328635 19 19303185 G A 332938 Likely_benign MHC_Class_II_Deficiency . . 0.0631 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12725 328642 19 19307797 C T 332953 Conflicting_interpretations_of_pathogenicity not_specified|MHC_Class_II_Deficiency 0.04559 0.05227 0.02875 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12726 328657 19 30190101 G T 348470 Likely_benign Neurodegeneration_with_brain_iron_accumulation_4 . . 0.10124 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12727 328672 19 30190522 A AC 349599 Benign Neurodegeneration_with_brain_iron_accumulation_4 . 0.68935 0.66494 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12728 328674 19 30190658 A G 332984 Benign Neurodegeneration_with_brain_iron_accumulation_4 . 0.69413 0.6871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12729 328692 19 30191933 A G 333006 Benign Neurodegeneration_with_brain_iron_accumulation_4 . 0.69597 0.70967 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12730 328706 19 30192474 C T 349620 Likely_benign Neurodegeneration_with_brain_iron_accumulation_4 . 0.13605 0.10144 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12731 328712 19 30192599 G T 348512 Benign Neurodegeneration_with_brain_iron_accumulation_4 . 0.55466 0.61761 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12732 328714 19 30192738 C T 349622 Benign Neurodegeneration_with_brain_iron_accumulation_4 . 0.67666 0.61861 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12733 128537 19 30193721 G A 133985 Benign Neurodegeneration_with_brain_iron_accumulation... 0.75204 0.667 0.61382 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12734 328740 19 33321447 A G 333045 Likely_benign Cystinuria . . 0.17492 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12735 328747 19 33333155 G A 333057 Likely_benign Cystinuria 0.23451 0.20587 0.2482 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12736 328754 19 33353041 G A 349637 Likely_benign Cystinuria 0.32977 0.29728 0.27816 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12737 328755 19 33353061 G T 333073 Benign/Likely_benign Cystinuria 0.32969 0.29711 0.27816 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12738 328756 19 33353357 C T 343180 Likely_benign Cystinuria 0.10495 0.10641 0.07228 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12739 328759 19 33353464 G A 333077 Likely_benign Cystinuria 0.33369 0.3005 0.27995 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12740 328760 19 33354992 A G 349639 Likely_benign Cystinuria 0.11264 0.11302 0.08087 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12741 328761 19 33355055 A G 343185 Likely_benign Cystinuria 0.35714 0.30983 0.30611 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12742 328762 19 33355069 A G 348553 Likely_benign Cystinuria 0.10526 . 0.07228 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12743 328763 19 33355081 G A 333082 Likely_benign Cystinuria 0.23074 0.19417 0.21146 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12744 328774 19 33360652 A T 333089 Benign Cystinuria . . 0.53974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12745 328776 19 33877912 G GAAAGT 343197 Benign Prolidase_deficiency . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12746 328777 19 33878039 A G 343199 Benign Prolidase_deficiency . . 0.28135 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12747 328781 19 33878198 A G 348563 Benign Prolidase_deficiency 0.29037 . 0.25839 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12748 328791 19 33878837 G A 348567 Benign Prolidase_deficiency|not_specified 0.29009 0.33656 0.27836 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12749 328799 19 33882222 G A 343220 Benign Prolidase_deficiency|not_specified 0.1057 0.14844 0.09844 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12750 683808 19 35523119 T A 669637 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12751 673876 19 35524266 CT C 669657 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12752 138998 19 35524824 T C 142701 Benign not_specified|not_provided 0.4214 0.42618 0.3776 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12753 683809 19 35525253 T C 668731 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12754 683811 19 35525322 A C 669661 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12755 259500 19 36342212 C T 256879 Benign/Likely_benign Finnish_congenital_nephrotic_syndrome|not_spec... 0.2332 . 0.29193 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12756 193150 19 36486445 G C 190315 Benign not_specified . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12757 227091 19 36497358 C G 231000 Benign not_specified 0.96394 0.92738 0.91274 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12758 137909 19 36549690 C T 141612 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_2|not... 0.15354 . 0.1256 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12759 670276 19 36558113 T C 668738 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12760 670277 19 36562292 G A 668739 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12761 670861 19 36564653 C T 670181 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12762 670278 19 36574361 A G 668743 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12763 160252 19 36575645 G A 169493 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_2|not... 0.15354 . 0.125 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12764 160254 19 36577550 G A 169494 Benign not_specified|not_provided 0.06561 0.09145 0.05651 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12765 670280 19 36581987 T C 670185 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12766 667588 19 36582668 C G 669682 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12767 160265 19 36584904 C T 169504 Benign not_specified|not_provided 0.15439 0.17886 0.125 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12768 160269 19 36590329 T C 169508 Benign/Likely_benign Primary_autosomal_recessive_microcephaly_2|not... 0.67346 0.64256 0.65415 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12769 677466 19 36590692 G A 669710 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12770 160301 19 36595436 A C 169537 Benign Primary_autosomal_recessive_microcephaly_2|not... 0.74904 0.74279 0.71625 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12771 789119 19 37368535 G C 716399 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12772 677199 19 38375666 C T 656528 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12773 677198 19 38376103 A G 656529 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12774 677197 19 38376485 T A 656530 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12775 677196 19 38377564 T C 656532 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12776 677195 19 38378539 G C 656535 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12777 677194 19 38379446 C T 656537 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12778 677193 19 38382328 C T 656538 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12779 677192 19 38384421 C G 656540 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12780 677235 19 38573139 G T 656542 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12781 677211 19 38652993 C T 656547 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12782 133131 19 38924814 T C 136878 Benign not_provided . . 0.80691 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12783 93277 19 38935280 A G 99184 Benign/Likely_benign Malignant_hyperthermia_susceptibility|Myopathy... 0.60303 0.6074 0.54333 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12784 256531 19 38935350 T TC 256905 Likely_benign not_specified|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12785 680756 19 38936836 C T 670195 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12786 93243 19 38939408 T C 99150 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.8952 . 0.90395 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12787 133008 19 38939505 T C 136756 Benign not_provided 0.98267 0.98324 0.99461 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12788 669161 19 38942714 G A 669746 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12789 133064 19 38943728 G A 136812 Benign not_provided . . 0.57228 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12790 669164 19 38945640 A G 668796 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12791 133065 19 38945851 T C 136813 Benign not_specified|not_provided 0.89236 0.87995 0.90196 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12792 93258 19 38946182 G A 99165 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.63209 0.63656 0.57129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12793 133107 19 38946215 G C 136854 Benign not_specified|not_provided 0.63286 . 0.57189 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12794 133110 19 38948356 T C 136857 Benign not_provided . . 0.58387 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12795 680757 19 38949505 C T 670217 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12796 133113 19 38949729 T G 136860 Benign not_provided . . 0.55511 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12797 93259 19 38949904 C T 99166 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.61702 0.62113 0.55411 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12798 133115 19 38950947 C T 136862 Benign not_provided . . 0.55371 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12799 669171 19 38953996 A G 668799 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12800 93261 19 38956803 G A 99168 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.59709 0.59619 0.54553 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12801 93284 19 38990336 C T 99191 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.05675 0.07188 0.08446 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12802 93285 19 38990345 C T 99192 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.09378 . 0.12181 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12803 93286 19 38990676 C A 99193 Benign not_specified|not_provided 0.05644 0.06945 0.08466 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12804 93289 19 38991640 C G 99196 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.22105 0.22205 0.26038 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12805 93292 19 38993372 A G 99199 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.31398 0.33658 0.42193 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12806 93294 19 38993547 C T 99201 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.15785 0.18208 0.23782 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12807 133216 19 38993638 A G 136963 Benign not_specified|not_provided 0.33108 0.33899 0.42891 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12808 93296 19 38994910 G A 99203 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.31955 0.3261 0.41234 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12809 669218 19 38995152 G A 669807 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12810 669220 19 38995233 A G 669810 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12811 256570 19 38995355 ACCT A 257017 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12812 93297 19 38995438 T C 99204 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.31977 0.32643 0.41514 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12813 93298 19 38995510 T C 99205 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.32362 0.32942 0.41713 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12814 93299 19 38995975 G A 99206 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.30821 0.32941 0.40595 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12815 133224 19 38996066 A G 136969 Benign not_specified|not_provided 0.29257 0.33911 0.40595 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12816 133227 19 38996620 C T 136972 Benign not_specified|not_provided 0.28852 0.31855 0.40595 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12817 133228 19 38996623 T G 136973 Benign not_specified|not_provided 0.25741 . 0.40575 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12818 133229 19 38996640 A G 136974 Benign not_provided . . 0.40595 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12819 669227 19 38996821 A C 670245 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12820 93300 19 38996990 T C 99207 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.31362 0.32646 0.40815 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12821 133231 19 38997076 C T 136976 Benign not_specified|not_provided 0.30963 0.32353 0.40615 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12822 133233 19 38997214 T G 136978 Benign not_specified|not_provided 0.30878 . 0.40615 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12823 590617 19 38997323 T C 581559 Benign not_specified|not_provided . . 0.40615 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12824 93302 19 38997459 G C 99209 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.30863 0.32427 0.40615 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12825 93303 19 38997609 T A 99210 Benign not_specified|not_provided 0.30721 0.32195 0.40495 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12826 133235 19 38997635 A C 136980 Benign not_specified|not_provided 0.30534 0.32077 0.40595 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12827 133236 19 38997679 G T 136981 Benign not_provided . . 0.40555 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12828 669247 19 38997763 C A 668819 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12829 680760 19 38997896 C T 669815 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12830 256576 19 38998497 G GC 257022 Benign not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12831 93306 19 39002725 A G 99213 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.31086 0.3251 0.40695 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12832 93239 19 39010023 C T 99146 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.03731 0.0562 0.02975 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12833 132998 19 39017378 T C 136746 Benign not_provided . . 0.34984 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12834 93242 19 39018280 C T 99149 Benign/Likely_benign Malignant_hyperthermia_susceptibility|Myopathy... 0.12287 0.07288 0.1242 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12835 133000 19 39018728 C G 136748 not_provided not_provided . 0.33136 0.26797 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12836 256396 19 39019222 A G 257045 Benign/Likely_benign not_specified|not_provided 0.00246 0.00445 0.0014 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12837 669253 19 39028759 T C 668826 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12838 256413 19 39034322 G A 257060 Benign not_specified 0.04882 0.05035 0.04553 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12839 133039 19 39053691 T C 136787 not_provided not_provided . . 0.40535 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12840 680798 19 39055343 C T 669976 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12841 93251 19 39056291 C T 99158 Benign/Likely_benign Malignant_hyperthermia_susceptibility|Myopathy... . 0.10451 0.03235 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12842 93253 19 39061258 C G 99160 Benign Malignant_hyperthermia_susceptibility|Myopathy... 0.03691 0.04604 0.03355 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12843 256455 19 39077253 G T 257097 Benign not_specified|not_provided 0.06151 0.06244 0.02756 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12844 259582 19 39196745 C T 257104 Benign Focal_segmental_glomerulosclerosis_1|not_speci... 0.39236 0.41049 0.33926 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12845 559111 19 39307103 C T 549789 Benign not_provided 0.08219 0.09918 0.07588 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12846 559115 19 39322087 T G 549793 Benign not_provided 0.45095 0.47271 0.36502 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12847 329207 19 39406167 C G 349792 Likely_benign Hyperuricemia,_pulmonary_hypertension,_renal_f... . 0.44472 0.55072 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12848 683699 19 39408086 T C 669847 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12849 329212 19 39408360 A G 348834 Benign Hyperuricemia,_pulmonary_hypertension,_renal_f... 0.70521 0.70661 0.83467 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12850 683696 19 39410119 A G 669850 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12851 683694 19 39410986 C G 668849 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12852 670037 19 39413162 C T 668850 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12853 329227 19 39421388 A G 348839 Benign Hyperuricemia,_pulmonary_hypertension,_renal_f... 0.71381 0.71211 0.84205 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12854 769454 19 39760435 T C 704975 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12855 41379 19 39994711 T C 49803 Benign Syndactyly|Jarcho-Levin_syndrome|Spondylocosta... 0.59011 0.56864 0.62999 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12856 130053 19 40900865 C T 135499 Benign Charcot-Marie-Tooth_disease_type_4|not_specifi... 0.95379 0.94692 0.96546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12857 130052 19 40901011 G C 135498 Benign/Likely_benign Charcot-Marie-Tooth_disease,_demyelinating,_ty... 0.13317 . 0.09924 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12858 130050 19 40901496 T C 135496 Benign Charcot-Marie-Tooth_disease,_demyelinating,_ty... 0.36629 0.35044 0.29673 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12859 130049 19 40901604 A G 135495 Benign Charcot-Marie-Tooth_disease,_demyelinating,_ty... 0.6091 0.50704 0.53195 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12860 130048 19 40901614 A G 135494 Benign Charcot-Marie-Tooth_disease_type_4|not_specifi... 0.60972 0.50685 0.53195 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12861 130051 19 40904602 G A 135497 Benign/Likely_benign Charcot-Marie-Tooth_disease,_demyelinating,_ty... 0.13455 0.14547 0.10224 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12862 680722 19 40913539 C T 668856 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12863 678506 19 41107205 G C 670267 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12864 678507 19 41107208 A C 670270 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12865 163945 19 41111069 G A 176729 Benign Cutis_laxa_with_severe_pulmonary,_gastrointest... 0.51969 0.49942 0.52436 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12866 677985 19 41112547 G C 670278 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12867 683627 19 41116166 C G 670279 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12868 163946 19 41117869 A G 176593 Benign Cutis_laxa_with_severe_pulmonary,_gastrointest... 0.46896 0.44795 0.49521 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12869 178781 19 41118056 A G 176731 Benign Cutis_laxa_with_severe_pulmonary,_gastrointest... 0.4674 0.45898 0.49501 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12870 163947 19 41119829 C T 176594 Benign/Likely_benign Cutis_laxa_with_severe_pulmonary,_gastrointest... 0.0748 . 0.04812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12871 683628 19 41122496 A G 668872 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12872 683623 19 41124931 C T 668875 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12873 178782 19 41128309 C T 176026 Benign Cutis_laxa_with_severe_pulmonary,_gastrointest... 0.37056 0.53767 0.41713 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12874 163950 19 41129842 C T 176027 Benign Cutis_laxa_with_severe_pulmonary,_gastrointest... 0.51184 0.43887 0.51877 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12875 678606 19 41133870 T C 669888 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12876 384699 19 41135283 G C 377666 Benign not_specified 0.15616 . 0.13678 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12877 683204 19 41198482 T C 668881 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12878 380101 19 41206060 G C 376538 Benign not_specified|not_provided 0.03791 0.03345 0.01318 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12879 379941 19 41206208 A G 376545 Benign not_specified|not_provided 0.57912 0.52602 0.53754 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12880 380045 19 41220529 C T 376552 Benign not_specified|not_provided 0.17146 0.15128 0.09924 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12881 768996 19 41386420 A C 705005 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12882 226002 19 41512792 C T 227803 drug_response efavirenz_response_-_Metabolism/PK 0.23943 0.33528 0.28914 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12883 29671 19 41512841 G T 38626 drug_response Efavirenz_response|efavirenz_response_-_Dosage... 0.2904 . 0.3157 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12884 120171 19 41515263 A G 125779 drug_response Efavirenz_response|efavirenz_response_-_Metabo... . 0.05632 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12885 375661 19 41515702 T C 362510 drug_response efavirenz_response_-_Metabolism/PK . . 0.73482 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12886 12534 19 41858921 G A 27573 Benign Breast_cancer,_invasive,_susceptibility_to|Dia... . . 0.54533 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12887 39302 19 41860296 A G 47908 Benign Diaphyseal_dysplasia . . 0.63199 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12888 261879 19 41860587 C T 257134 Benign/Likely_benign Meckel-Gruber_syndrome|not_specified 0.06359 0.06357 0.04133 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12889 261881 19 41869392 T C 257138 Benign Meckel-Gruber_syndrome|Meckel_syndrome,_type_1... 0.72451 0.65496 0.64956 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12890 680489 19 41903421 A T 670293 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12891 93334 19 41903699 T G 99241 Likely_benign Maple_syrup_urine_disease|not_specified 0.10718 0.1172 0.08247 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12892 680490 19 41904165 C T 669927 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12893 93341 19 41916549 C A 99248 Benign/Likely_benign Maple_syrup_urine_disease|not_specified|not_pr... 0.09803 . 0.05531 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12894 93357 19 41919944 A C 99264 Benign Maple_syrup_urine_disease|not_specified 0.6761 0.59895 0.61601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12895 676107 19 41920211 T C 670294 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12896 93382 19 41928652 C T 99289 Benign Maple_syrup_urine_disease|not_specified 0.67607 0.59935 0.61641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12897 93386 19 41928701 C T 99293 Benign/Likely_benign not_specified|not_provided 0.38244 0.3722 0.25739 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12898 93387 19 41928724 G A 99294 Benign/Likely_benign not_specified 0.64347 0.58956 0.58566 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12899 93389 19 41928867 G GC 99296 Benign/Likely_benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12900 680491 19 41929251 T C 670031 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12901 93343 19 41930396 A G 99250 Benign Maple_syrup_urine_disease|not_specified 0.677 0.59997 0.61701 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12902 440244 19 42364395 T C 433895 Benign not_specified . . 0.57328 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12903 138927 19 42373298 G A 142630 Benign Diamond-Blackfan_anemia|not_specified 0.55468 . 0.55871 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12904 329400 19 42471050 G C 349040 Benign Alternating_hemiplegia_of_childhood|Dystonia_12 0.71168 0.63742 0.71945 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12905 329409 19 42482076 T A 349042 Likely_benign Alternating_hemiplegia_of_childhood|Dystonia_12 0.00177 0.00345 0.00379 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12906 157926 19 42489516 A C 167773 Benign/Likely_benign Alternating_hemiplegia_of_childhood|Dystonia_1... 0.92973 . 0.90156 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12907 769011 19 43420451 G C 705065 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12908 769013 19 43679410 A G 705071 Likely_benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12909 769014 19 43699336 T C 705072 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12910 683858 19 44013260 G A 670042 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12911 683856 19 44030998 C T 668887 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12912 260385 19 44031324 C T 257139 Benign Ethylmalonic_encephalopathy|not_specified|not_... 0.14891 0.19066 0.15236 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12913 225976 19 44055726 T C 227806 drug_response Platinum_compounds_response_-_Efficacy|cisplat... 0.70921 0.6834 0.73962 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12914 257226 19 45213752 C T 257140 Benign not_specified 0.03914 0.04598 0.03494 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12915 439 19 45322744 A G 15478 Benign AUBERGER_BLOOD_GROUP_POLYMORPHISM_Au(a)/Au(b) . 0.27533 0.27037 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12916 329465 19 45682026 A C 333754 Likely_benign Hermansky-Pudlak_syndrome . . 0.04653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12917 329481 19 45683448 T A 349968 Likely_benign Hermansky-Pudlak_syndrome . . 0.0629 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12918 329487 19 45684109 C T 333794 Likely_benign Hermansky-Pudlak_syndrome . . 0.04653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12919 134105 19 45854919 T G 137844 Benign Osteosarcoma|Non-small_cell_lung_cancer|Xerode... 0.326 . 0.23662 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12920 256018 19 45855524 G A 257142 Benign Xeroderma_pigmentosum|not_specified 0.25873 0.28591 0.18231 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12921 256016 19 45856468 G C 257143 Benign not_specified 0.67846 . 0.63439 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12922 135529 19 45865002 C A 139268 not_provided not_specified . 0.64019 0.63299 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12923 134117 19 45867259 C T 137856 Benign Xeroderma_pigmentosum|Xeroderma_pigmentosum,_g... 0.24385 0.37882 0.19449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12924 256021 19 45868309 T G 257148 Benign Xeroderma_pigmentosum|not_specified 0.66254 0.58981 0.63618 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12925 256020 19 45872036 C T 257149 Benign not_specified 0.65687 0.59573 0.63618 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12926 225987 19 45912736 C A 227807 drug_response cisplatin_response_-_Toxicity/ADR|Platinum_com... 0.26124 0.32366 0.29513 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12927 225945 19 45923653 A G 227808 drug_response Xeroderma_pigmentosum|carboplatin_response_-_E... 0.54006 0.50847 0.66893 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12928 669143 19 45992381 T C 670052 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12929 684130 19 46000535 T G 670057 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12930 329553 19 46049687 T C 349092 Likely_benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.01238 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12931 329556 19 46049982 A G 349095 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.77536 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12932 329574 19 46050760 T C 333835 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.63798 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12933 329594 19 46051915 T A 333865 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.76098 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12934 329596 19 46051919 ATTT A 349123 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12935 329609 19 46052454 A G 349142 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.75839 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12936 329610 19 46052620 TCAGGG T 333868 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12937 329617 19 46052898 C T 333871 Likely_benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.15455 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12938 329624 19 46053385 C T 349153 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.76018 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12939 329631 19 46053655 G GGCT 333881 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12940 329647 19 46054822 C T 333893 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.75679 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12941 329657 19 46055477 G GT 343865 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12942 329682 19 46056620 C T 333923 Benign 3-Methylglutaconic_aciduria_type_3|Optic_Atrop... . . 0.71066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12943 21709 19 46057081 A G 34561 Benign 3-Methylglutaconic_aciduria_type_3|Optic_atrop... 0.68256 0.70759 0.76697 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12944 262913 19 46268902 C T 257151 Benign Branchiootorenal_syndrome_2|not_specified 0.34366 0.32055 0.29812 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12945 678453 19 47109011 T C 669931 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12946 678454 19 47111663 T C 670058 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12947 137381 19 47251930 C G 141084 Benign not_specified . . 0.0605 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12948 774357 19 47425424 G T 705107 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12949 99592 19 48337812 C T 105481 Benign Leber_congenital_amaurosis|not_specified|Cone-... 0.14401 0.1495 0.08846 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12950 329706 19 48343531 CAAG C 343885 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12951 329713 19 48343803 T C 343896 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.24221 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12952 329714 19 48343815 G C 333943 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.27616 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12953 329716 19 48343903 G A 333950 Likely_benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.06929 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12954 329717 19 48343906 C T 349199 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.24301 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12955 329730 19 48344190 G C 349205 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.27676 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12956 329733 19 48344270 C T 343904 Likely_benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.06949 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12957 329739 19 48344513 G A 350127 Likely_benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.06949 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12958 329741 19 48344570 G A 343912 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.24321 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12959 329742 19 48344679 T A 333976 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.57009 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12960 329744 19 48344874 G GA 349209 Likely_benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12961 329748 19 48345114 TA T 350128 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12962 329753 19 48345330 C T 349210 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.27756 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12963 329758 19 48345407 T C 350143 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.5641 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12964 329761 19 48345604 C T 350150 Likely_benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.06949 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12965 329765 19 48345783 G C 349215 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.23043 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12966 329768 19 48345928 C T 333995 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.23023 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12967 329769 19 48345941 G T 343926 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.23043 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12968 329777 19 48346161 T C 349224 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.26697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12969 329779 19 48346241 C T 343931 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.21386 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12970 329781 19 48346503 C T 334000 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.21386 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12971 329782 19 48346509 C G 343933 Likely_benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.06969 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12972 329783 19 48346525 T C 349226 Benign Leber_congenital_amaurosis|Cone-Rod_Dystrophy,... . . 0.21386 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12973 262481 19 48800218 T C 257160 Benign not_specified 0.21873 0.21603 0.20308 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12974 262496 19 48800338 A G 257162 Benign not_specified 0.62256 0.5703 0.46466 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12975 262490 19 48800791 A G 257168 Benign not_specified 0.40133 0.35954 0.32149 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12976 262489 19 48800914 G A 257169 Benign not_specified 0.23235 0.28868 0.16753 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12977 262485 19 48801414 G T 257171 Benign not_specified 0.17861 . 0.15216 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12978 262486 19 48801426 T C 257172 Benign not_specified 0.39013 0.32609 0.30431 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12979 262507 19 48806977 G A 257179 Benign not_specified 0.17884 0.18302 0.15336 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12980 262504 19 48807367 C A 257181 Benign not_specified 0.17938 0.18395 0.15395 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12981 262503 19 48807401 C T 257182 Benign not_specified 0.2433 . 0.16813 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12982 12945 19 49206674 G A 27984 Benign,_association SECRETOR/NONSECRETOR_POLYMORPHISM|Vitamin_b12_... . 0.38942 0.32169 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12983 156440 19 49469087 T C 166213 Benign Hyperferritinemia_cataract_syndrome|Neuroferri... 0.51953 0.49791 0.46066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12984 676132 19 49474027 A T 670066 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12985 681676 19 49481631 A C 670318 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12986 676131 19 49485758 C T 670329 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12987 260834 19 49661112 G A 257190 Benign/Likely_benign not_specified|Progressive_familial_heart_block . 0.29375 0.15036 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12988 674828 19 49661582 T C 669944 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12989 780580 19 49977929 A G 716597 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12990 496316 19 50140068 C T 487954 Benign not_provided 0.69683 0.70345 0.73822 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12991 496315 19 50140092 G A 487955 Benign not_provided 0.69683 0.7034 0.73822 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12992 138201 19 50321587 A G 141904 Benign not_specified 0.01115 0.00869 0.01018 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12993 138200 19 50339548 G A 141903 Benign not_specified|not_provided 0.01369 0.00957 0.00998 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12994 95476 19 50365370 G A 101375 Conflicting_interpretations_of_pathogenicity Epileptic_encephalopathy|Early_infantile_epile... 0.00923 0.00721 0.00539 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12995 159801 19 50366042 G A 169592 Benign not_specified|not_provided 0.01561 0.03367 0.04133 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12996 667941 19 50370106 T G 668937 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12997 95486 19 50370404 G A 101385 Benign/Likely_benign History_of_neurodevelopmental_disorder|Early_i... 0.009 . 0.00659 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
12998 129846 19 50411742 A G 135292 Likely_benign not_specified 0.94726 0.94442 0.97404 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
12999 129849 19 50412217 C G 135295 Likely_benign not_specified 0.31625 0.35175 0.31629 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13000 129848 19 50412417 G A 135294 Likely_benign not_specified 0.80755 0.79186 0.86042 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13001 129847 19 50412516 C T 135293 Likely_benign not_specified 0.02199 0.01243 0.02177 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13002 44073 19 50720949 G A 53241 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.01434 0.00971 0.01118 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13003 44079 19 50726570 G A 53247 Benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.49326 0.6057 0.47284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13004 44044 19 50735340 C T 53212 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.32462 0.35882 0.32149 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13005 44051 19 50755955 C T 53219 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Domin... 0.03027 0.04041 0.05112 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13006 44056 19 50762418 A G 53224 Benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.7375 0.77194 0.76118 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13007 44057 19 50763889 C T 53225 Benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.43545 0.44797 0.4391 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13008 44062 19 50771609 G A 53230 Benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.53139 0.59804 0.48443 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13009 44063 19 50771635 T C 53231 Benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.87526 0.87568 0.86462 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13010 44067 19 50779469 C T 53235 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.18627 0.20966 0.13199 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13011 44075 19 50796905 G A 53243 Benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.6146 0.74795 0.68211 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13012 257578 19 50796960 C T 257195 Benign not_specified 0.62566 0.74963 0.69449 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13013 226747 19 50805138 C T 231073 Benign not_specified|Nonsyndromic_Hearing_Loss,_Dominant 0.79466 . 0.7508 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13014 329955 19 50813169 A C 350291 Likely_benign Nonsyndromic_Hearing_Loss,_Dominant . 0.36905 0.248 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13015 329958 19 50813263 T G 349293 Benign Nonsyndromic_Hearing_Loss,_Dominant . . 0.82508 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13016 380227 19 50905762 T C 377725 Benign Hereditary_cancer-predisposing_syndrome|not_sp... 0.12617 0.05319 0.13838 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13017 676483 19 50909389 T G 670373 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13018 676546 19 50909405 G A 668946 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13019 679796 19 50911847 C A 670018 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13020 676550 19 50916571 A G 670382 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13021 380228 19 50916772 T C 377776 Benign Hereditary_cancer-predisposing_syndrome|Colore... 0.10926 0.04496 0.11841 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13022 380221 19 50918969 A G 377792 Benign not_specified|not_provided 0.20937 0.2659 0.28215 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13023 258788 19 50919797 C T 257197 Benign not_specified|not_provided 0.58103 0.57934 0.40835 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13024 676551 19 50920100 T C 670026 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13025 380229 19 50920410 C T 379661 Benign not_specified|not_provided 0.09353 0.07638 0.10843 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13026 371933 19 50920536 A G 359002 Benign/Likely_benign Colorectal_cancer_10|not_specified|not_provided 0.11514 0.05689 0.12859 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13027 676552 19 50920558 C T 670028 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13028 560822 19 50921074 A ACCCTGC 551952 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13029 259564 19 51411636 G T 257199 Benign not_specified 0.997 0.99617 0.9984 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13030 680119 19 51848824 A G 670032 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13031 680118 19 51848834 A G 670384 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13032 680111 19 51849927 G C 670385 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13033 94018 19 51850290 G A 99920 Benign Glutaric_aciduria,_type_2|not_specified|not_pr... 0.54183 0.49803 0.41973 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13034 680110 19 51850485 T C 668951 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13035 683851 19 51850597 T C 670041 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13036 683849 19 51853288 C G 670387 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13037 680108 19 51853352 A G 670392 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13038 680106 19 51853872 G A 668952 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13039 369289 19 51883149 T G 353518 Likely_benign Cortical_pulverulent_cataract . . 0.64397 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13040 773360 19 51919998 T C 705210 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13041 402874 19 52249211 T G 390308 Benign not_specified 0.79694 0.80448 0.78714 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13042 402877 19 52249702 G T 390462 Benign not_specified 0.2891 0.32854 0.35104 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13043 402878 19 52249947 C G 390432 Benign not_specified 0.34323 . 0.39377 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13044 402879 19 52250216 A G 390319 Benign not_specified 0.77249 0.80533 0.83407 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13045 403625 19 52803669 CTG C 390465 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13046 769464 19 53770261 T C 705230 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13047 769986 19 53848779 T C 705231 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13048 769988 19 53848837 C T 705233 Likely_benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13049 329988 19 54296978 AC A 350305 Benign Familial_cold_autoinflammatory_syndrome . . 0.42752 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13050 262531 19 54307322 G A 257201 Benign Familial_cold_autoinflammatory_syndrome|not_sp... 0.48601 . 0.42672 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13051 403242 19 54308554 C T 390434 Benign not_specified 0.85491 0.84739 0.80631 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13052 262528 19 54327313 C A 257206 Benign Familial_cold_autoinflammatory_syndrome|not_sp... 0.2668 0.22944 0.25559 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13053 330052 19 54327568 A T 350336 Benign Familial_cold_autoinflammatory_syndrome . . 0.78135 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13054 130037 19 54385820 C T 135483 Benign Spinocerebellar_ataxia_14|not_specified|Spinoc... 0.88229 0.94629 0.89637 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13055 130036 19 54394965 T C 135482 Benign Spinocerebellar_ataxia_14|not_specified|Spinoc... 0.34607 . 0.32947 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13056 330063 19 54395098 G T 334232 Benign Spinocerebellar_ataxia_14|Spinocerebellar_Atax... 0.35161 0.39669 0.33367 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13057 167537 19 54632423 T C 177983 Benign not_specified|Retinitis_Pigmentosa,_Dominant 0.82555 . 0.7532 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13058 97793 19 55438831 G T 103685 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59185 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13059 97792 19 55438850 A G 103684 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13060 97794 19 55438940 AAAAC A 103686 not_provided Hydatidiform_mole,_recurrent,_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13061 97777 19 55439371 A G 103669 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59265 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13062 97778 19 55439455 G T 103670 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59285 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13063 97779 19 55439472 T C 103671 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59285 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13064 97782 19 55439537 C A 103674 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59325 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13065 97783 19 55439542 T C 103675 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59325 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13066 97784 19 55439545 G A 103676 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59485 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13067 97785 19 55439639 A G 103677 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59265 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13068 97788 19 55439821 G T 103680 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.41693 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13069 97789 19 55439838 A G 103681 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13070 97774 19 55440357 G A 103666 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59245 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13071 97769 19 55441643 C T 103661 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59066 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13072 97767 19 55441741 A G 103659 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59006 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13073 97766 19 55441744 C T 103658 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.59006 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13074 330156 19 55441902 T C 334316 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1|not_specified 0.54429 0.5819 0.59006 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13075 330158 19 55441995 A G 344252 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1|not_specified 0.54413 0.58154 0.59045 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13076 97764 19 55442280 A C 103656 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.57668 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13077 97765 19 55442398 C A 103657 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.67292 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13078 97763 19 55443424 A G 103655 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.73942 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13079 97752 19 55447501 G A 103644 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.16134 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13080 97742 19 55448961 G A 103634 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.67792 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13081 97738 19 55449099 G C 103630 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.41054 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13082 97728 19 55449755 G A 103620 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.67851 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13083 287106 19 55450746 C T 271343 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1|not_specified 0.11748 . 0.09085 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13084 330172 19 55451050 C T 349382 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1|not_specified 0.1728 . 0.18071 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13085 330176 19 55451232 C T 334358 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1|not_specified 0.2954 0.24098 0.28894 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13086 330183 19 55451797 C T 334365 Benign/Likely_benign Hydatidiform_mole,_recurrent,_1|not_specified 0.38874 0.34043 0.35543 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13087 97894 19 55453134 G A 103786 Benign Hydatidiform_mole,_recurrent,_1 . 0.4212 0.40555 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13088 97895 19 55453418 G A 103787 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.19369 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13089 97896 19 55453511 C T 103788 not_provided Hydatidiform_mole,_recurrent,_1 . . 0.18071 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13090 97900 19 55458801 G A 103792 not_provided Hydatidiform_mole,_recurrent,_1 . 0.05252 0.06929 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13091 718578 19 55495031 G A 728399 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13092 257416 19 55525497 A G 257209 Benign not_specified 0.8057 0.76898 0.72664 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13093 257413 19 55525596 T C 257212 Benign not_specified 0.73414 0.80832 0.71665 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13094 257411 19 55525894 G A 257214 Benign not_specified 0.73371 0.79038 0.71765 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13095 257428 19 55526345 T G 257216 Benign not_specified 0.79766 0.84671 0.82308 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13096 257427 19 55526359 A T 257217 Benign not_specified 0.74491 0.7998 0.72484 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13097 257426 19 55526373 G C 257218 Benign not_specified 0.48751 0.5425 0.38459 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13098 257424 19 55527081 C T 257220 Benign not_specified 0.73095 0.78945 0.71346 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13099 257423 19 55530035 C T 257221 Benign not_specified 0.76618 . 0.74361 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13100 257422 19 55536595 G A 257222 Benign not_specified 0.82504 0.8139 0.84265 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13101 257421 19 55538980 T C 257223 Benign not_specified 0.8801 . 0.90715 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13102 257419 19 55539061 A G 257225 Benign not_specified 0.75024 0.79293 0.73243 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13103 257418 19 55539072 T G 257226 Benign not_specified 0.81792 . 0.84265 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13104 167736 19 55644325 A C 178100 Benign not_specified 0.99985 0.98916 0.98043 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13105 31863 19 55658088 G A 40523 Benign/Likely_benign not_specified|Nemaline_Myopathy,_Recessive|not... 0.10482 0.23461 0.0643 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13106 31864 19 55660499 A G 40524 not_provided not_provided . 0.20573 0.19828 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13107 31855 19 55660537 T C 40515 Benign/Likely_benign Hypertrophic_cardiomyopathy|Familial_restricti... . 0.83146 0.8101 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13108 36881 19 55665584 A C 45542 Conflicting_interpretations_of_pathogenicity Cardiomyopathy|Primary_ciliary_dyskinesia|Prim... . 0.99997 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13109 43366 19 55667647 C A 52536 Benign/Likely_benign Cardiomyopathy|Hypertrophic_cardiomyopathy|Pri... 0.03682 0.04615 0.02276 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13110 369296 19 55671337 C T 353525 Likely_benign Hypertrophic_cardiomyopathy|Familial_restricti... . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13111 769051 19 55790886 A AGCCGCCGCC 705259 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13112 769465 19 55895588 G A 705264 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13113 770812 19 55912946 T G 705266 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13114 769056 19 56739747 C G 705276 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13115 713237 19 57325940 A T 728424 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13116 330224 19 57742472 G C 344295 Benign Spermatogenic_Failure . . 0.86761 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13117 330225 19 57742489 C T 349406 Benign Spermatogenic_Failure|not_specified . 0.76247 0.76777 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13118 769059 19 58004931 A G 705290 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13119 769989 19 58421080 G T 705298 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13120 286343 19 59023166 G A 270580 Benign not_specified 0.17159 0.24354 0.16174 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13121 286342 19 59023174 A G 270579 Benign not_specified 0.17113 0.25303 0.16154 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13122 402586 20 126310 ACC A 390451 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13123 262230 20 741847 A G 257429 Benign not_specified|not_provided 0.70226 0.70216 0.65535 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13124 262238 20 744450 G A 257434 Benign not_specified 0.37521 0.43117 0.30871 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13125 262228 20 746423 GTATCTGCCC G 257443 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13126 337814 20 1959939 G A 344725 Benign Spinocerebellar_Ataxia,_Dominant . . 0.51298 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13127 337819 20 1960198 A G 344729 Benign Spinocerebellar_Ataxia,_Dominant . . 0.51378 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13128 337822 20 1960313 A G 344733 Likely_benign Spinocerebellar_Ataxia,_Dominant . . 0.09525 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13129 337834 20 1961134 A G 334872 Benign Spinocerebellar_ataxia_23|Spinocerebellar_Atax... 0.173 . 0.13019 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13130 337846 20 1974858 T C 350714 Benign Spinocerebellar_Ataxia,_Dominant . . 0.628 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13131 130585 20 2375262 A G 136031 Benign Spinocerebellar_ataxia_35|not_specified|Spinoc... 0.93726 0.9071 0.878 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13132 337914 20 2380396 G A 344788 Benign Spinocerebellar_ataxia_35|Spinocerebellar_Atax... 0.61699 0.66165 0.57408 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13133 337920 20 2384151 G A 344790 Likely_benign Spinocerebellar_Ataxia,_Dominant 0.07589 0.0917 0.12999 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13134 130584 20 2398017 G A 136030 Benign Spinocerebellar_ataxia_35|not_specified|Spinoc... 0.27157 0.23451 0.32448 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13135 791662 20 2413125 CC CT,TT 779964 Benign not_provided . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13136 337941 20 2413320 T C 350769 Benign Spinocerebellar_Ataxia,_Dominant 0.43657 0.41753 0.51318 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13137 129807 20 2633936 T C 135253 Likely_benign not_specified 0.83431 . 0.86122 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13138 129806 20 2637071 T C 135252 Likely_benign not_specified 0.65085 0.63363 0.67372 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13139 129808 20 2638579 T C 135254 Likely_benign not_specified 0.35844 0.30984 0.377 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13140 129809 20 2638882 T C 135255 Likely_benign not_specified 0.33893 0.29312 0.3774 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13141 338028 20 2644407 C G 344895 Benign Retinitis_Pigmentosa,_Recessive 0.65331 0.68653 0.61302 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13142 771047 20 3026345 A AGCCCC 705420 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13143 14747 20 3193893 A C 29786 drug_response azathioprine_response_-_Toxicity/ADR|Inosine_t... 0.1118 0.08863 0.05911 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13144 261999 20 3209083 G A 257339 Benign/Likely_benign not_specified|Corneal_Dystrophy,_Recessive 0.176 . 0.15915 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13145 261998 20 3209371 G A 257340 Benign not_specified 0.39401 0.44768 0.49421 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13146 261997 20 3210301 G A 257341 Benign/Likely_benign not_specified|Corneal_Dystrophy,_Recessive 0.0938 0.0916 0.04852 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13147 261996 20 3211235 C T 257342 Benign/Likely_benign not_specified|Corneal_Dystrophy,_Recessive 0.0908 0.08513 0.04513 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13148 261994 20 3211304 G A 257343 Benign/Likely_benign not_specified|Corneal_Dystrophy,_Recessive 0.10118 . 0.04792 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13149 262002 20 3214581 C T 257345 Benign/Likely_benign not_specified|Corneal_Dystrophy,_Recessive 0.18622 0.1574 0.16633 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13150 262001 20 3214819 T G 257346 Benign/Likely_benign not_specified|Corneal_Dystrophy,_Recessive 0.48093 . 0.47983 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13151 338263 20 3218355 C G 344973 Likely_benign Corneal_Dystrophy,_Recessive 0.43165 . 0.45028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13152 193506 20 3870079 T A 190670 Benign Pigmentary_pallidal_degeneration|not_specified... 0.04545 0.12172 0.08686 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13153 96526 20 3870124 G C 102420 Benign Pigmentary_pallidal_degeneration|not_specified... 0.93669 . 0.87919 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13154 13397 20 4680251 A G 28436 Benign Alzheimer_disease,_early-onset,_susceptibility... . 0.30778 0.26657 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13155 338858 20 5283256 C G 345515 Benign Hypogonadism_with_anosmia|Kallmann_syndrome_3|... 0.73505 0.74352 0.72324 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13156 338859 20 5283376 G A 345516 Benign Hypogonadism_with_anosmia|Kallmann_syndrome_3|... 0.40927 0.39802 0.44649 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13157 339170 20 6055696 G GT 351325 Uncertain_significance Kindler's_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13158 339178 20 6056042 T TA 351333 Benign Kindler's_syndrome . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13159 260868 20 6064710 A G 257380 Benign Kindler's_syndrome|not_specified 0.35968 0.3683 0.39577 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13160 339209 20 6064731 C T 336173 Benign Kindler's_syndrome 0.15316 0.10236 0.11641 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13161 339213 20 6065729 CTT TTC 345924 Uncertain_significance Kindler's_syndrome . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13162 339224 20 6088265 G A 350337 Likely_benign Kindler's_syndrome 0.06374 0.07091 0.05112 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13163 339230 20 6093177 A G 351350 Likely_benign Kindler's_syndrome 0.10403 0.08318 0.08307 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13164 339234 20 6096632 G A 351354 Likely_benign Kindler's_syndrome 0.10841 0.08481 0.08826 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13165 260864 20 6100088 A G 257384 Benign Kindler's_syndrome|not_specified 0.53237 0.52428 0.52456 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13166 260863 20 6100230 A C 257385 Benign Kindler's_syndrome|not_specified 0.59919 0.63558 0.70847 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13167 339257 20 6104048 C G 350349 Benign Kindler's_syndrome . . 0.42692 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13168 339259 20 6104068 C T 336223 Benign Kindler's_syndrome . . 0.70407 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13169 195136 20 6751034 A G 192297 Benign not_specified 0.70826 0.67231 0.74601 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13170 196322 20 6759115 A T 193483 Benign SHORT_STATURE,_FACIAL_DYSMORPHISM,_AND_SKELETA... 0.72931 0.67432 0.76677 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13171 126883 20 7885184 C G 132395 association Calcium_oxalate_urolithiasis . . 0.32528 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13172 126886 20 7899928 T C 132398 association Calcium_oxalate_urolithiasis . . 0.3105 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13173 126888 20 7909166 G A 132400 association Calcium_oxalate_urolithiasis . . 0.30391 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13174 126889 20 7912942 C G 132401 association Calcium_oxalate_urolithiasis . . 0.29912 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13175 129899 20 8130943 C T 135345 Benign/Likely_benign Seizures|not_specified|Early_Infantile_Epilept... 0.19279 0.16853 0.1871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13176 129901 20 8696907 T G 135347 Benign/Likely_benign Seizures|not_specified|Early_Infantile_Epilept... 0.07781 0.12164 0.13498 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13177 129908 20 8737734 G A 135354 Benign/Likely_benign Seizures|Early_infantile_epileptic_encephalopa... 0.25188 0.27177 0.21226 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13178 129910 20 8755243 T C 135356 Benign Seizures|Early_infantile_epileptic_encephalopa... 0.64024 0.6155 0.61322 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13179 129912 20 8769180 C T 135358 Benign Early_infantile_epileptic_encephalopathy_12|no... 0.89144 0.94079 0.89697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13180 129914 20 8770822 C T 135360 Benign Seizures|Early_infantile_epileptic_encephalopa... 0.25335 0.29695 0.22863 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13181 339539 20 8864177 T C 350478 Benign Early_Infantile_Epileptic_Encephalopathy,_Auto... . . 0.80451 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13182 339540 20 8864203 A G 351533 Benign Early_Infantile_Epileptic_Encephalopathy,_Auto... . . 0.60943 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13183 339544 20 8864448 AACTT A 351538 Likely_benign Early_Infantile_Epileptic_Encephalopathy,_Auto... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13184 339548 20 8865006 C T 336462 Benign Early_Infantile_Epileptic_Encephalopathy,_Auto... . . 0.53594 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13185 339552 20 9288522 G A 350485 Benign Auriculocondylar_syndrome_2|Auriculocondylar_s... 0.51654 0.59654 0.47145 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13186 542731 20 10234257 G A 533432 Benign not_provided . . 0.4978 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13187 261060 20 10393145 C G 257305 Benign not_specified 0.24719 . 0.26538 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13188 337715 20 10618574 T C 344656 Benign Arteriohepatic_dysplasia|Isolated_Nonsyndromic... . . 0.47424 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13189 337723 20 10619014 A C 344672 Benign Arteriohepatic_dysplasia|Isolated_Nonsyndromic... . . 0.22165 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13190 337729 20 10619289 C CA 349651 Benign Arteriohepatic_dysplasia|Isolated_Nonsyndromic... . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13191 337735 20 10619659 TA T 344686 Benign Arteriohepatic_dysplasia|Isolated_Nonsyndromic... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13192 42478 20 10620275 G A 51648 Benign Arteriohepatic_dysplasia|not_specified|Cardiov... 0.22813 0.23829 0.18011 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13193 137595 20 10620386 A G 141298 Benign Arteriohepatic_dysplasia|not_specified|Cardiov... 0.7272 0.65919 0.71266 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13194 255555 20 10622080 CA C 257308 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13195 143063 20 10633237 G A 152781 Benign Arteriohepatic_dysplasia|not_specified|Cardiov... 0.42465 0.45408 0.42332 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13196 213524 20 10639385 A G 210341 Benign Arteriohepatic_dysplasia|not_specified|Isolate... 0.42404 0.43754 0.45767 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13197 536536 20 10639543 G A 534015 Likely_benign Alagille_syndrome_1 . . 0.51378 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13198 683425 20 13773572 C G 670439 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13199 669468 20 13778878 C G 670197 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13200 129694 20 13782194 C T 135140 Benign not_specified|not_provided 0.01492 0.0189 0.01058 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13201 683429 20 13789247 A G 669030 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13202 257616 20 17474791 G A 257325 Benign not_specified|not_provided 0.27649 0.24629 0.20587 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13203 257615 20 17474968 T C 257326 Benign not_specified|not_provided 0.74012 . 0.7506 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13204 257617 20 17479617 G A 257329 Benign not_specified|not_provided 0.05682 0.0564 0.02256 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13205 380041 20 17950545 A T 379676 Benign not_specified|not_provided 0.11087 0.10407 0.08526 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13206 684256 20 17968548 G A 670201 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13207 262249 20 17968923 T C 257331 Benign not_specified|not_provided 0.26549 . 0.3119 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13208 684258 20 17969211 C T 670141 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13209 337781 20 18488399 C G 350687 Benign Congenital_dyserythropoietic_anemia . . 0.77197 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13210 95379 20 18511456 A G 101278 Benign Congenital_dyserythropoietic_anemia|not_specified 0.91649 0.97473 0.91633 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13211 683996 20 19867042 C T 669034 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13212 679115 20 19915678 C G 669036 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13213 384713 20 19955473 C T 377963 Likely_benign not_specified 0.01653 0.01449 0.00459 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13214 337852 20 23026496 C T 334892 Benign Atypical_hemolytic_uremic_syndrome . . 0.77596 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13215 337862 20 23027413 T G 344766 Benign Atypical_hemolytic_uremic_syndrome . . 0.16713 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13216 337864 20 23027621 T C 334901 Benign Atypical_hemolytic_uremic_syndrome . . 0.30212 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13217 337883 20 23028724 G A 334922 Benign Atypical_hemolytic_uremic_syndrome 0.13788 0.19969 0.16454 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13218 12718 20 23030015 C T 27757 Conflicting_interpretations_of_pathogenicity Atypical_hemolytic-uremic_syndrome_6|Atypical_... . 0.00343 0.0028 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13219 5635 20 23618427 C T 20674 Conflicting_interpretations_of_pathogenicity Age-related_macular_degeneration_11 . 0.25489 0.21226 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13220 402569 20 23618571 T G 390477 Benign not_specified . . 0.21166 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13221 337948 20 25056401 T C 349766 Likely_benign Posterior_Polymorphous_Corneal_Dystrophy . . 0.02216 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13222 337984 20 25281159 CCT C 350785 Likely_benign Polyneuropathy,_hearing_loss,_ataxia,_retiniti... . . 0.10383 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13223 128255 20 25288632 G A 133704 Benign Polyneuropathy,_hearing_loss,_ataxia,_retiniti... 0.43465 0.46964 0.33606 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13224 337999 20 25371378 G GGCCTCCGCC 335074 Benign Polyneuropathy,_hearing_loss,_ataxia,_retiniti... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13225 338004 20 25371559 C T 349784 Benign Polyneuropathy,_hearing_loss,_ataxia,_retiniti... . . 0.45627 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13226 138405 20 30407213 T C 142108 Benign/Likely_benign Hypertrophic_cardiomyopathy|not_specified . . 0.05391 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13227 678521 20 30408580 T C 670158 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13228 36654 20 30412101 C T 45316 Benign Cardiomyopathy|Familial_hypertrophic_cardiomyo... 0.01438 0.01137 0.00599 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13229 191741 20 30419929 G A 190018 Uncertain_significance Familial_hypertrophic_cardiomyopathy_1|not_pro... 0.00015 2e-05 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13230 683580 20 30795819 T C 656627 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13231 133599 20 31022959 T C 137338 not_provided not_specified 0.99992 0.99998 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13232 338113 20 31024274 T C 349835 Benign C-like_syndrome|not_specified 0.32008 0.41833 0.40575 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13233 338120 20 31025163 A G 345017 Benign C-like_syndrome 0.30517 0.40651 0.39996 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13234 338123 20 31025231 T C 345023 Benign C-like_syndrome . . 0.39976 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13235 338126 20 31025535 A G 335208 Benign C-like_syndrome . . 0.42891 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13236 338165 20 31383353 T G 345058 Benign Immunodeficiency-centromeric_instability-facia... 0.40289 0.48356 0.58486 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13237 338170 20 31386347 T C 345062 Benign Immunodeficiency-centromeric_instability-facia... 0.57912 0.58058 0.75579 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13238 338171 20 31386449 T C 335243 Benign Immunodeficiency-centromeric_instability-facia... 0.57773 0.57922 0.75579 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13239 338175 20 31387954 C G 335245 Benign Immunodeficiency-centromeric_instability-facia... 0.53398 . 0.71406 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13240 338180 20 31388636 T C 349870 Benign Immunodeficiency-centromeric_instability-facia... 0.56213 0.57372 0.74261 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13241 338197 20 31396536 A G 350898 Benign Immunodeficiency-centromeric_instability-facia... . . 0.80471 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13242 338201 20 31397019 AT A 345089 Benign Immunodeficiency-centromeric_instability-facia... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13243 670951 20 32000351 A G 670166 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13244 683867 20 32026350 C G 669066 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13245 338286 20 32891200 G T 349903 Benign Hypermethioninemia . . 0.67712 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13246 255474 20 33533736 A C 257352 Benign not_specified|not_provided 0.70537 . 0.66434 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13247 510873 20 33581955 G A 507152 Benign not_specified 0.35614 0.43246 0.39677 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13248 256716 20 34022387 A C 257356 Benign Brachydactyly|Acromesomelic_Dysplasia|Symphala... 0.36906 . 0.38399 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13249 256712 20 34025756 A G 257358 Benign Brachydactyly|Acromesomelic_Dysplasia|Symphala... 0.58252 0.47435 0.5611 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13250 8390 20 34025983 A G 23429 Benign Brachydactyly|Osteoarthritis_of_hip|Acromesome... . . 0.54653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13251 671453 20 34285442 C T 669101 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13252 708475 20 34526853 C T 728625 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13253 683687 20 35865054 C T 656633 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13254 770815 20 36784246 C T 778680 Likely_benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13255 402430 20 36932660 C T 390390 Benign not_specified 0.42742 0.50618 0.43131 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13256 402431 20 36932676 G C 390456 Benign not_specified 0.43003 0.50762 0.4347 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13257 402433 20 36940314 C T 390457 Benign not_specified 0.04313 0.05729 0.05132 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13258 402434 20 36946848 G A 390480 Benign not_specified 0.49531 0.46237 0.4351 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13259 338393 20 39315589 C CT 335418 Benign Multicentric_osteolysis_nephropathy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13260 775648 20 40074369 C T 705487 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13261 775649 20 40161684 C T 778598 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13262 775650 20 40161979 T A 705488 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13263 683545 20 42814688 G T 669103 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13264 671113 20 42814931 T C 669121 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13265 137602 20 42815190 G A 141305 Benign Familial_hypertrophic_cardiomyopathy_17|not_sp... 0.86629 0.84495 0.85423 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13266 676906 20 43042130 C G 670492 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13267 676907 20 43042580 C G 670262 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13268 676908 20 43042950 A C 670209 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13269 674363 20 43043051 C G 670264 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13270 674364 20 43043095 G A 670271 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13271 676879 20 43047293 A G 669133 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13272 676881 20 43048685 A G 670495 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13273 676882 20 43052570 T C 670274 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13274 676884 20 43058018 T C 669135 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13275 676886 20 43058096 C G 670497 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13276 338448 20 43059211 A C 335470 Likely_benign Maturity_onset_diabetes_mellitus_in_young|Hype... . . 0.57129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13277 402340 20 43264927 C T 390343 Benign not_specified 0.98462 0.99554 0.98223 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13278 444117 20 43882833 G A 437771 Benign Diabetes_mellitus_type_2 . . 0.16154 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13279 444116 20 43948221 A C 437780 Benign Diabetes_mellitus_type_2 . . 0.2486 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13280 444120 20 43953076 T G 437781 Benign Diabetes_mellitus_type_2 . . 0.41733 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13281 444112 20 43953319 CAG C 437782 Benign Diabetes_mellitus_type_2 . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13282 444106 20 43957510 G A 437783 Benign Diabetes_mellitus_type_2 . . 0.29593 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13283 444111 20 43958755 G A 437784 Benign Diabetes_mellitus_type_2 . . 0.80371 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13284 444113 20 43964288 T C 437785 Benign Diabetes_mellitus_type_2 . . 0.49501 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13285 338513 20 44519643 G A 351036 Benign Combined_deficiency_of_sialidase_AND_beta_gala... 0.36091 0.58237 0.38419 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13286 338520 20 44519793 A C 351042 Likely_benign Combined_deficiency_of_sialidase_AND_beta_gala... . . 0.01558 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13287 683633 20 44522594 A G 670283 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13288 683634 20 44522953 C T 670506 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13289 558867 20 44523442 TC T 549810 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13290 338535 20 44523547 G A 345347 Benign Combined_deficiency_of_sialidase_AND_beta_gala... 0.63494 0.66018 0.67832 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13291 338538 20 44523782 C T 351057 Benign Combined_deficiency_of_sialidase_AND_beta_gala... 0.63663 0.66076 0.67991 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13292 671990 20 44526783 G A 670285 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13293 13634 20 44548193 C T 28673 association High_density_lipoprotein_cholesterol_level_qua... . . 0.3143 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13294 130810 20 44596207 C G 136255 Likely_benign not_specified 0.9245 0.8493 0.77776 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13295 130807 20 44596545 G A 136252 Benign not_specified 0.33374 0.33129 0.1857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13296 130795 20 44599839 G C 136240 Likely_benign not_specified 0.95423 0.89384 0.85982 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13297 338546 20 44637624 C T 350025 Likely_benign Metaphyseal_anadysplasia 0.01684 0.03496 0.03275 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13298 338554 20 44640959 G A 351068 Benign Metaphyseal_anadysplasia 0.47147 0.43608 0.26058 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13299 282093 20 44642406 G C 266330 Benign Metaphyseal_anadysplasia|Metaphyseal_anadyspla... 0.91996 . 0.83027 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13300 285363 20 44642833 A C 269600 Benign Metaphyseal_anadysplasia|not_specified 0.59958 0.47076 0.40595 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13301 338562 20 44645010 C T 350030 Benign Metaphyseal_anadysplasia 0.47309 0.4329 0.25938 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13302 338563 20 44645153 T C 345359 Benign Metaphyseal_anadysplasia . . 0.16374 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13303 475656 20 44664491 C A 470904 Benign Early_infantile_epileptic_encephalopathy_34 0.01807 0.03532 0.03215 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13304 475658 20 44665946 T C 470416 Benign Early_infantile_epileptic_encephalopathy_34 0.01807 0.03561 0.03315 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13305 475640 20 44671880 C T 469378 Benign Early_infantile_epileptic_encephalopathy_34 0.01799 0.03515 0.03295 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13306 475644 20 44676727 T A 471417 Benign Early_infantile_epileptic_encephalopathy_34 0.0213 0.0454 0.03095 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13307 338569 20 44746982 T C 350035 Benign Immunodeficiency_with_hyper_IgM_type_3|not_spe... 0.80301 0.75273 0.77117 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13308 338576 20 44757524 C G 335608 Benign/Likely_benign Immunodeficiency_with_hyper_IgM_type_3|not_spe... 0.00661 0.01706 0.01597 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13309 338624 20 45363813 G A 351090 Uncertain_significance Arterial_tortuosity_syndrome . . 0.00379 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13310 667995 20 47639991 A G 670247 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13311 261263 20 50405502 C G 257369 Benign not_specified|SALL4-Related_Spectrum_Disorders 0.09765 . 0.04972 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13312 261260 20 50407162 T C 257372 Benign not_specified|SALL4-Related_Spectrum_Disorders 0.30209 0.35783 0.38199 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13313 261259 20 50407502 A C 257373 Benign Duane-radial_ray_syndrome|not_specified|SALL4-... 0.2781 . 0.35883 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13314 261258 20 50407966 C T 257374 Benign not_specified|SALL4-Related_Spectrum_Disorders 0.33523 0.25225 0.20927 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13315 261264 20 50408482 A G 257377 Benign not_specified|SALL4-Related_Spectrum_Disorders 0.99562 0.99651 0.9974 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13316 338789 20 52770054 C CAT 351180 Benign Infantile_hypercalcemia . . 0.61062 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13317 338797 20 52770596 G C 335826 Benign Infantile_hypercalcemia . . 0.21665 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13318 338810 20 52771261 G A 351190 Benign Infantile_hypercalcemia . . 0.1887 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13319 338831 20 52786219 G A 350152 Benign Infantile_hypercalcemia|Idiopathic_hypercalcem... 0.5243 0.49236 0.45807 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13320 667564 20 55803149 C T 670253 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13321 667563 20 55803687 C T 669189 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13322 338868 20 56136536 A G 345596 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_defici... 0.44795 . 0.39697 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13323 338875 20 56137798 G A 351214 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_defici... 0.41273 0.37883 0.29513 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13324 338876 20 56137807 A G 351217 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_defici... 0.44964 0.4111 0.3133 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13325 338877 20 56137834 A G 335894 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_defici... 0.44956 0.41447 0.3141 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13326 338879 20 56137895 G C 351218 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_defici... 0.9012 0.84626 0.84605 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13327 338882 20 56138621 A G 345601 Likely_benign Phosphoenolpyruvate_carboxykinase_(GTP)_defici... 0.09872 0.09257 0.05771 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13328 338889 20 56139403 T C 345602 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_defici... 0.80225 0.75474 0.78694 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13329 338898 20 56140980 T G 351230 Benign Phosphoenolpyruvate_carboxykinase_(GTP)_defici... . . 0.42432 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13330 259537 20 57009796 C T 257378 Benign not_specified 0.41458 0.41675 0.41693 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13331 338947 20 57020573 A G 335929 Benign Amyotrophic_Lateral_Sclerosis,_Dominant|Spinal... . 0.222 0.18031 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13332 338974 20 57022712 GTGTGTGCA G 350203 Benign Amyotrophic_Lateral_Sclerosis,_Dominant|Spinal... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13333 339005 20 57024541 T C 350221 Benign Amyotrophic_Lateral_Sclerosis,_Dominant|Spinal... . 0.42719 0.48323 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13334 339006 20 57024589 C T 350223 Benign Amyotrophic_Lateral_Sclerosis,_Dominant|Spinal... . 0.25469 0.20907 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13335 339050 20 57244493 G A 336021 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant 0.51639 0.50207 0.47444 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13336 339081 20 57253132 A G 345794 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.53934 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13337 339087 20 57253275 C T 350266 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.20447 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13338 339089 20 57253404 G A 351305 Benign Pseudohypoaldosteronism_type_1_autosomal_dominant . . 0.39297 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13339 197681 20 57478807 C T 194842 Benign not_specified 0.57943 0.54733 0.64437 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13340 136462 20 57607260 G A 140165 Benign not_specified 0.00133 0.00331 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13341 506081 20 60864390 C T 497338 Benign not_specified 0.40257 0.46835 0.42472 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13342 258413 20 61467800 A G 257414 Benign not_specified 0.14047 0.18882 0.22304 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13343 258415 20 61467898 G C 257416 Benign Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp... 0.91246 0.91983 0.93331 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13344 258417 20 61468571 T C 257418 Benign Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp... 0.7644 0.68695 0.70986 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13345 339318 20 61472386 A G 346001 Benign Multiple_Epiphyseal_Dysplasia,_Dominant . . 0.24561 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13346 339320 20 61472440 C T 351403 Benign Multiple_Epiphyseal_Dysplasia,_Dominant . . 0.24301 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13347 668093 20 61978524 T C 670560 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13348 93428 20 61981104 C T 99335 Benign Seizures|Nicotine_addiction,_protection_agains... 0.40943 0.47498 0.35184 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13349 93427 20 61981134 G A 99334 Benign Seizures|Nicotine_addiction,_protection_agains... 0.40831 . 0.32348 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13350 93425 20 61981536 A G 99332 Benign Seizures|Epilepsy,_nocturnal_frontal_lobe,_typ... 0.85714 0.93575 0.87081 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13351 93424 20 61981554 C A 99331 Benign Seizures|Epilepsy,_nocturnal_frontal_lobe,_typ... 0.75139 . 0.73383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13352 128750 20 61982085 A G 134199 Benign Seizures|not_specified|not_provided 0.8433 0.91955 0.86362 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13353 128749 20 61982124 A G 134198 Benign Seizures|not_specified|not_provided 0.76695 0.83528 0.75719 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13354 668092 20 61982692 C T 670287 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13355 670759 20 61990874 T C 670577 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13356 679895 20 61991301 A C 669204 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13357 679894 20 61992285 A C 670584 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13358 21779 20 62038277 T G 34631 Benign Seizures|Benign_familial_neonatal_seizures_1|K... 0.5987 0.63724 0.59045 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13359 498785 20 62046496 C CGACAGACA 490209 Benign not_specified . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13360 675061 20 62055417 G A 669223 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13361 682049 20 62059505 G A 670375 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13362 682047 20 62065420 C T 669227 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13363 682046 20 62065460 G A 670315 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13364 682045 20 62070301 C T 670376 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13365 670764 20 62076743 C A 670390 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13366 683726 20 62076988 T C 670322 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13367 668925 20 62078487 T C 669249 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13368 680018 20 62119875 T C 670338 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13369 680017 20 62122211 G T 670597 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13370 379689 20 62126185 A G 379761 Benign Seizures|not_specified|not_provided 0.57394 0.57098 0.59165 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13371 380779 20 62126299 C T 378443 Benign Seizures|not_specified|not_provided 0.09914 0.13538 0.14018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13372 668129 20 62126745 G A 669259 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13373 680009 20 62128735 T C 670349 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13374 496489 20 62305274 G A 488061 Benign not_provided 0.25065 0.24911 0.29373 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13375 496488 20 62309554 C T 487850 Benign not_provided 0.69453 0.66482 0.61162 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13376 403398 20 62320968 T C 390347 Benign not_specified|not_provided 0.82776 0.74863 0.71825 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13377 403400 20 62321655 G A 390350 Benign not_specified|not_provided 0.80817 0.74108 0.69609 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13378 403401 20 62322288 T C 390482 Benign not_specified|not_provided 0.8353 0.76529 0.71805 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13379 403402 20 62326110 A C 390459 Benign not_specified|not_provided 0.82324 0.75473 0.73682 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13380 403404 20 62328375 A G 390461 Benign Dyskeratosis_congenita,_autosomal_recessive,_5... 0.94222 0.9384 0.96546 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13381 375482 20 62421622 A G 362292 association Chronic_osteomyelitis 0.16923 0.17504 0.26518 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13382 679297 20 62559964 G A 669275 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13383 339415 20 62565833 C T 351455 Benign Neuronal_Ceroid-Lipofuscinosis,_Recessive . . 0.27616 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13384 770004 20 62571417 AGG AG,A 778592 Benign not_provided . . . 1/2 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13385 339463 20 62612675 G A 351479 Likely_benign Retinitis_Pigmentosa,_Dominant 0.07661 0.20744 0.09485 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13386 339483 20 62659937 C T 336423 Likely_benign Retinitis_Pigmentosa,_Dominant 0.14778 0.13183 0.15855 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13387 339492 20 62664365 C T 350449 Likely_benign Retinitis_Pigmentosa,_Dominant 0.11856 0.1332 0.07268 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13388 774533 21 16337111 G A 705627 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13389 782067 21 16338259 A G 717163 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13390 586762 21 34003928 A AAGTATT 577888 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13391 586760 21 34014283 C A 577890 Benign not_provided 0.28694 0.28848 0.29133 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13392 586758 21 34059352 T C 577892 Benign not_provided 0.29761 0.29339 0.30411 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13393 7288 21 34614250 T C 22327 risk_factor Hepatitis_b_virus,_susceptibility_to . 0.10539 0.11861 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13394 775442 21 34625037 C G 705659 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13395 402970 21 34634878 G A 390483 Benign not_specified . 0.43007 0.4353 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13396 339698 21 34668747 A G 351592 Benign Inflammatory_bowel_disease . 0.63616 0.56849 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13397 339709 21 34669381 G A 346315 Benign Inflammatory_bowel_disease . . 0.5651 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13398 402963 21 34799350 C G 390403 Benign not_specified 0.75219 0.76422 0.84225 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13399 339716 21 35736384 G A 346324 Likely_benign Long_QT_syndrome|Romano-Ward_syndrome|Familial... . . 0.10663 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13400 339721 21 35819014 G A 336618 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . . 0.67612 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13401 339722 21 35819063 T C 346327 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . . 0.45128 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13402 339732 21 35819536 A G 351613 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . . 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13403 339746 21 35819995 G GC 336627 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13404 339751 21 35820324 T C 336636 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . . 0.49361 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13405 339764 21 35821087 G A 336663 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . . 0.44808 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13406 339769 21 35821419 T C 346347 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... . . 0.41214 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13407 132651 21 35821821 T C 136399 Benign Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn... 0.66193 0.64771 0.67392 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13408 671896 21 35822111 A G 670353 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13409 675606 21 35822270 T C 669293 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13410 137976 21 35831815 A C 141679 Benign not_specified . . 0.99381 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13411 258180 21 36164405 G T 257452 Benign Familial_platelet_disorder_with_associated_mye... . 0.60031 0.37061 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13412 258186 21 36206932 G A 257457 Benign Familial_platelet_disorder_with_associated_mye... . 1 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13413 44088 21 37833307 C T 53256 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.22313 0.16824 0.13538 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13414 44084 21 37833751 G A 53252 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.27626 0.21609 0.1901 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13415 339915 21 38123404 A AAT 350652 Benign Holocarboxylase_synthetase_deficiency . . 0.35244 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13416 256033 21 38126507 T C 257460 Likely_benign Holocarboxylase_synthetase_deficiency|not_spec... 0.02025 0.02775 0.02356 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13417 676139 21 38128707 G A 670612 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13418 256035 21 38132172 C T 257461 Benign not_specified|not_provided 0.42565 . 0.38299 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13419 256034 21 38139632 C A 257463 Benign not_specified 0.57543 0.56325 0.6276 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13420 92915 21 38302543 CA C 98822 Benign/Likely_benign Holocarboxylase_synthetase_deficiency|not_spec... . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13421 256037 21 38302769 C T 257464 Benign not_specified 0.54014 0.5863 0.5597 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13422 680600 21 38308552 C T 670360 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13423 137552 21 38362470 A G 141255 Benign Holocarboxylase_synthetase_deficiency|not_spec... . . 0.26098 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13424 339982 21 38362498 G A 351758 Benign Holocarboxylase_synthetase_deficiency . . 0.25499 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13425 679843 21 38791156 A G 670422 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13426 204008 21 38853058 T TA 200401 Pathogenic Inborn_genetic_diseases|Mental_retardation,_au... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13427 681326 21 38858938 G A 670625 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13428 679364 21 38865507 C G 670431 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13429 668911 21 38868111 A T 670629 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13430 339990 21 43160015 C T 350694 Benign Popliteal_pterygium_syndrome . . 0.41733 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13431 339992 21 43160214 A ACT 346491 Benign Popliteal_pterygium_syndrome . . 0.43171 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13432 339999 21 43160438 T C 350704 Benign Popliteal_pterygium_syndrome . . 0.4379 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13433 340006 21 43160908 A G 351774 Benign Popliteal_pterygium_syndrome . . 0.76917 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13434 261351 21 43161022 C T 257465 Benign Popliteal_pterygium_syndrome|not_specified 0.38711 0.45312 0.44549 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13435 261350 21 43161357 T C 257466 Benign Popliteal_pterygium_syndrome|not_specified 0.98016 0.96519 0.95687 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13436 261349 21 43161805 G A 257467 Benign Popliteal_pterygium_syndrome|not_specified 0.51438 0.60198 0.53095 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13437 261348 21 43161877 C T 257468 Benign Popliteal_pterygium_syndrome|not_specified 0.39882 0.44337 0.4401 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13438 261347 21 43162150 G A 257469 Benign Popliteal_pterygium_syndrome|not_specified 0.39549 0.45174 0.4401 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13439 261346 21 43164232 C A 257470 Benign Popliteal_pterygium_syndrome|not_specified 0.36291 0.41258 0.38419 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13440 46089 21 43792869 C T 55254 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.16308 0.2358 0.26897 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13441 46129 21 43803167 T C 55294 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.16016 0.16268 0.24121 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13442 46121 21 43805656 T C 55286 Benign/Likely_benign not_specified|Nonsyndromic_Hearing_Loss,_Reces... 0.58212 0.48773 0.61841 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13443 672235 21 44476759 A G 669323 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13444 683312 21 44478000 T C 670378 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13445 668732 21 44480283 G A 669335 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13446 678456 21 44483773 G A 670447 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13447 256010 21 44589215 C T 257472 Benign Congenital_cataract|not_specified|not_provided 0.6437 0.5404 0.5 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13448 340112 21 44592875 G A 336903 Likely_benign Congenital_cataract . . 0.10663 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13449 586586 21 44837551 G A 577895 Benign Seizures|not_provided 0.72414 0.80005 0.72544 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13450 586585 21 44837555 G A 577896 Benign Seizures|Epileptic_encephalopathy,_early_infan... 0.84547 0.89001 0.83067 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13451 586588 21 44846016 C T 577899 Benign Seizures|not_provided 0.18687 0.28127 0.16653 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13452 495855 21 45705952 C T 487965 Benign/Likely_benign not_provided 0.00082 0.00221 . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13453 128338 21 45708277 C T 133787 Benign not_specified 0.18679 0.20799 0.13319 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13454 803633 21 45712357 AC A 792010 Benign Polyglandular_autoimmune_syndrome,_type_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13455 128336 21 45712977 T C 133785 Benign not_specified 0.3935 0.37799 0.35623 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13456 128337 21 45717550 T C 133786 Benign not_specified 0.49438 0.46107 0.53035 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13457 340134 21 46306161 C T 351837 Likely_benign Leukocyte_adhesion_deficiency . . 0.15835 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13458 100752 21 46306472 C G 106617 not_provided Leukocyte_adhesion_deficiency_type_1 . . 0.19429 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13459 340155 21 46311813 A G 346638 Benign Leukocyte_adhesion_deficiency|not_specified 0.75015 0.68883 0.76298 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13460 100746 21 46313442 G T 106611 Benign Leukocyte_adhesion_deficiency|Leukocyte_adhesi... 0.24089 0.23067 0.19908 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13461 100745 21 46314907 T A 106610 Benign Leukocyte_adhesion_deficiency|Leukocyte_adhesi... 0.99985 0.99994 1 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13462 100765 21 46315022 C T 106630 not_provided Leukocyte_adhesion_deficiency_type_1 0.2535 0.23505 0.20727 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13463 100761 21 46320313 C T 106626 Benign Leukocyte_adhesion_deficiency|Leukocyte_adhesi... 0.21621 0.24285 0.22304 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13464 100756 21 46321659 C A 106621 Likely_benign Leukocyte_adhesion_deficiency|Leukocyte_adhesi... 0.18099 . 0.13918 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13465 340172 21 46323273 G A 350811 Benign/Likely_benign Leukocyte_adhesion_deficiency|Leukocyte_adhesi... 0.03545 0.02343 0.04712 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13466 377981 21 46327026 C A 378485 Benign not_specified 0.06867 0.07461 0.10883 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13467 803634 21 46328099 T C 792011 Benign Leukocyte_adhesion_deficiency_type_1 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13468 100753 21 46330674 C A 106618 Benign Leukocyte_adhesion_deficiency|Leukocyte_adhesi... 0.21716 0.2285 0.21306 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13469 518320 21 46875564 T C 508935 Benign Knobloch_syndrome_1|not_provided 0.96933 0.9705 0.98842 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13470 261919 21 46876083 A G 257481 Benign not_specified 0.38293 0.34374 0.3756 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13471 261885 21 46893767 A G 257482 Benign not_specified 0.22205 0.20054 0.248 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13472 340214 21 46897893 T TC 351873 Likely_benign Knobloch_syndrome_1 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13473 261890 21 46899947 G A 257487 Benign not_specified 0.19232 . 0.17053 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13474 261892 21 46901973 A C 257489 Benign not_specified 0.22978 0.22648 0.20827 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13475 261895 21 46908355 T C 257492 Benign Knobloch_syndrome_1|not_specified 0.31287 . 0.31989 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13476 803635 21 46911299 G GC 792012 Benign Knobloch_syndrome_1 . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13477 340240 21 46913153 G T 336991 Likely_benign Knobloch_syndrome_1 0.02449 0.02719 0.01198 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13478 157588 21 46957794 T C 167450 Uncertain_significance Gastrointestinal_stroma_tumor 0.50932 0.57697 0.48862 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13479 671107 21 47402227 G GC 670465 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13480 93873 21 47404397 A G 99775 Benign Collagen_VI-related_myopathy|not_specified 0.86318 0.86443 0.88039 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13481 93876 21 47406421 G A 99778 Benign not_specified 0.18643 0.18468 0.11242 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13482 93879 21 47406612 C A 99781 Benign Collagen_VI-related_myopathy|not_specified . 0.7215 0.69589 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13483 679177 21 47409113 C T 670412 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13484 679178 21 47409239 G C 670417 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13485 93891 21 47409503 A G 99793 Benign not_specified 0.86294 0.86182 0.8768 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13486 93897 21 47409580 C A 99799 Benign Collagen_VI-related_myopathy|not_specified 0.17899 0.18246 0.09405 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13487 93793 21 47410373 A G 99695 Benign not_specified . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13488 93800 21 47410386 C T 99702 Benign not_specified . . 0.0022 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13489 679180 21 47410626 T G 670469 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13490 93805 21 47410931 T C 99707 Benign Bethlem_myopathy_1|Ullrich_congenital_muscular... 0.62394 0.53147 0.54493 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13491 680311 21 47412511 G A 669369 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13492 93811 21 47412751 A C 99713 Benign not_specified|not_provided 0.87904 0.85892 0.87141 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13493 679939 21 47413929 G T 670667 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13494 679940 21 47417206 A G 669370 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13495 93813 21 47417303 T C 99715 Benign not_specified|not_provided 0.47278 0.53754 0.51158 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13496 93815 21 47417415 C A 99717 Benign not_specified 0.54237 . 0.61002 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13497 93816 21 47417432 A AG 99718 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13498 93817 21 47417578 A G 99719 Benign not_specified|not_provided 0.35836 0.34121 0.28714 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13499 93822 21 47417975 A G 99724 Benign not_specified|not_provided 0.88207 . 0.88339 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13500 680314 21 47418234 G C 670423 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13501 679945 21 47418564 T C 669373 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13502 93826 21 47419012 C T 99728 Benign not_specified|not_provided 0.34181 . 0.28934 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13503 679948 21 47419277 G T 670668 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13504 679947 21 47419697 C T 670669 Benign not_provided . . . 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13505 679949 21 47419747 A G 670671 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13506 679185 21 47420016 G A 669397 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13507 679186 21 47420418 C T 670680 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13508 93831 21 47420723 G C 99733 Benign not_specified|not_provided 0.33608 0.28387 0.26597 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13509 93832 21 47420726 C G 99734 Benign not_specified|not_provided 0.86668 . 0.83027 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13510 93834 21 47420761 G A 99736 Benign not_specified|not_provided 0.50197 . 0.55951 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13511 93835 21 47420769 A G 99737 Benign not_specified|not_provided 0.86049 . 0.86741 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13512 679192 21 47420866 C T 669411 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13513 679195 21 47420971 A G 669417 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13514 93850 21 47422412 C T 99752 Benign not_specified|not_provided 0.48255 0.56202 0.55132 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13515 679201 21 47423133 C G 670685 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13516 93861 21 47423389 G A 99763 Benign Bethlem_myopathy_1|Ullrich_congenital_muscular... 0.33961 0.28883 0.27017 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13517 93864 21 47423507 G A 99766 Benign Bethlem_myopathy_1|Ullrich_congenital_muscular... 0.33726 0.28593 0.26817 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13518 93865 21 47423509 C T 99767 Benign Bethlem_myopathy_1|Ullrich_congenital_muscular... 0.16187 0.1626 0.10883 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13519 93870 21 47423636 C T 99772 Benign Collagen_VI-related_myopathy|not_specified 0.32713 0.27149 0.26418 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13520 340342 21 47424346 A G 350905 Benign Collagen_VI-related_myopathy . . 0.88199 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13521 679204 21 47531215 C T 670436 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13522 93955 21 47532440 C T 99857 Benign Myosclerosis|Collagen_VI-related_myopathy|not_... 0.09475 . 0.09505 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13523 679205 21 47532544 C T 670443 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13524 679207 21 47535536 T G 670444 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13525 93963 21 47536546 C T 99865 Benign not_specified 0.42464 0.49215 0.39756 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13526 93900 21 47537882 G A 99802 Benign not_specified|not_provided 0.46341 0.5309 0.45148 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13527 679212 21 47538050 G A 670455 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13528 679213 21 47538071 G A 670458 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13529 679206 21 47538310 A T 669446 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13530 93903 21 47538960 G A 99805 Benign Myosclerosis|Collagen_VI-related_myopathy|not_... 0.72923 . 0.70527 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13531 93905 21 47539790 A G 99807 Benign not_specified|not_provided 0.82267 0.76684 0.8097 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13532 672468 21 47540036 G A 669449 Likely_benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13533 671689 21 47540050 C T 670698 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13534 679215 21 47540186 C T 669451 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13535 679217 21 47540200 C T 670501 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13536 679209 21 47540231 A C 670502 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13537 679218 21 47540260 C T 670709 Benign not_provided . . . 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13538 679222 21 47540725 G A 670710 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13539 679210 21 47541744 A G 670712 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13540 679224 21 47542220 C T 670715 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13541 93914 21 47542861 A G 99816 Benign Myosclerosis|Collagen_VI-related_myopathy|not_... 0.86087 0.81221 0.84744 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13542 668105 21 47544308 T C 670474 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13543 93916 21 47544541 C G 99818 Benign not_specified|not_provided 0.41401 . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13544 93919 21 47544769 A G 99821 Benign/Likely_benign not_specified|not_provided 0.09342 0.08368 0.07568 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13545 93922 21 47545155 A G 99824 Benign not_specified|not_provided 0.80332 0.79849 0.79513 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13546 93929 21 47545768 G A 99831 Benign Myosclerosis|Bethlem_myopathy_1|Collagen_VI-re... 0.41296 0.4784 0.39397 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13547 93930 21 47545823 G A 99832 Benign Myosclerosis|Collagen_VI-related_myopathy|not_... 0.41273 0.47551 0.39417 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13548 93931 21 47545826 C T 99833 Benign Myosclerosis|Collagen_VI-related_myopathy|not_... 0.41258 0.47551 0.39397 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13549 679226 21 47546244 T C 669469 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13550 679219 21 47549613 C T 670494 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13551 679228 21 47549629 T A 670511 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13552 93940 21 47551833 C T 99842 Benign not_specified|not_provided 0.53189 0.53587 0.48383 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13553 93948 21 47552209 G A 99850 Benign/Likely_benign GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|Myos... 0.0814 0.09244 0.06729 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13554 340393 21 47552527 G A 350939 Likely_benign GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|Myos... . . 0.03994 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13555 95424 21 47558473 G C 101323 Benign GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|not_... 0.47133 0.5139 0.48103 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13556 677175 21 47614469 A C 656675 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13557 677221 21 47635176 T C 656676 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13558 677174 21 47635627 C G 656677 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13559 677173 21 47635713 G A 670517 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13560 677172 21 47639492 C G 670522 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13561 677220 21 47641794 C T 656678 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13562 677219 21 47642609 G A 656679 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13563 403075 21 47685939 A G 390367 Benign not_specified 0.47401 0.45147 0.42173 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13564 718693 21 47704253 G C 728978 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13565 403613 21 47704896 G A 390484 Benign not_specified 0.33146 0.32412 0.2486 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13566 402442 21 47721985 A ATGG 390504 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13567 340455 21 47744037 CG C 351957 Benign Microcephalic_Osteodysplastic_Primordial_Dwarfism . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13568 95341 21 47766139 T C 101240 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.68907 0.6408 0.67512 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13569 667797 21 47766232 A C 670527 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13570 159653 21 47766650 G A 169621 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.32027 . 0.29992 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13571 668870 21 47771056 C T 670727 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13572 159566 21 47773103 C A 169626 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.29825 . 0.28954 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13573 667796 21 47776706 G A 669479 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13574 159569 21 47777063 G A 169629 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.89382 0.85592 0.84864 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13575 667798 21 47777222 A G 670498 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13576 159572 21 47783796 T C 169631 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.89487 0.85481 0.84705 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13577 667799 21 47784060 T C 670503 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13578 159573 21 47786449 T A 169632 Benign not_specified|not_provided 0.89119 . 0.80651 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13579 159574 21 47786494 C T 169633 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.68856 0.74868 0.65775 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13580 159579 21 47786817 C G 169638 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.88175 0.85275 0.83886 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13581 159581 21 47787002 T C 169640 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.88305 0.853 0.83766 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13582 159597 21 47811272 C T 169654 Benign not_specified|Microcephalic_Osteodysplastic_Pr... 0.28794 0.36576 0.30152 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13583 667804 21 47816953 G A 670736 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13584 673979 21 47818298 T C 670743 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13585 667805 21 47821726 G A 669484 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13586 667543 21 47830843 T C 670510 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13587 159642 21 47836653 C T 169690 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.22527 0.28109 0.2496 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13588 667806 21 47847852 T C 670748 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13589 159668 21 47850405 C T 169714 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.70557 0.66531 0.66913 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13590 159670 21 47850484 G C 169716 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.48408 0.57743 0.48822 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13591 159671 21 47851753 A G 169717 Benign Microcephalic_osteodysplastic_primordial_dwarf... 0.69184 0.63968 0.66993 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13592 668871 21 47855509 G A 670529 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13593 159685 21 47856106 C A 169731 Benign not_specified|not_provided 0.29821 0.35946 0.3127 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13594 159692 21 47860764 T C 169737 Benign/Likely_benign not_specified|Microcephalic_Osteodysplastic_Pr... 0.159 0.12772 0.10583 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13595 667801 21 47862188 T C 670534 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13596 667803 21 47862624 A G 670516 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13597 718694 21 48081808 G A 728990 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13598 340557 22 17565932 T C 346957 Benign Familial_Candidiasis,_Recessive . 0.79412 0.77496 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13599 340561 22 17565974 G C 351009 Benign not_specified|Familial_Candidiasis,_Recessive . 0.80657 0.77476 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13600 340585 22 17586471 C T 352040 Benign Immunodeficiency_51|not_specified|Familial_Can... 0.81455 0.81149 0.83227 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13601 340592 22 17589246 G A 351025 Benign Familial_Candidiasis,_Recessive 0.1587 0.11533 0.12141 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13602 340614 22 17590744 T C 351038 Benign Familial_Candidiasis,_Recessive 0.23296 0.23956 0.27995 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13603 340622 22 17591089 G A 351041 Benign Familial_Candidiasis,_Recessive . . 0.73103 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13604 340624 22 17591144 C T 351044 Benign Familial_Candidiasis,_Recessive . . 0.53974 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13605 340632 22 17591697 G A 351047 Benign Familial_Candidiasis,_Recessive . . 0.55551 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13606 340645 22 17592396 G A 347016 Uncertain_significance Familial_Candidiasis,_Recessive . . 0.00419 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13607 340670 22 17593685 G A 347027 Benign Familial_Candidiasis,_Recessive . . 0.83666 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13608 340706 22 17594886 T C 352116 Benign Familial_Candidiasis,_Recessive . . 0.48742 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13609 340707 22 17594915 G A 337411 Benign Familial_Candidiasis,_Recessive . . 0.48642 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13610 340710 22 17595070 T G 337414 Benign Familial_Candidiasis,_Recessive . . 0.48602 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13611 340730 22 17596178 T C 337449 Benign Familial_Candidiasis,_Recessive . . 0.61861 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13612 340732 22 17596229 T C 347061 Benign Familial_Candidiasis,_Recessive . . 0.19709 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13613 340736 22 17596388 G C 351104 Benign Familial_Candidiasis,_Recessive . . 0.83686 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13614 402526 22 17662699 A G 390468 Benign not_specified 0.29886 0.25683 0.1873 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13615 402527 22 17662793 A G 390370 Benign not_specified 0.30209 0.25647 0.19189 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13616 402528 22 17662917 G C 390485 Benign not_specified 0.29225 . 0.1863 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13617 402529 22 17690409 G A 390469 Benign not_specified 0.44956 0.4341 0.3113 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13618 340749 22 18560825 A G 352137 Likely_benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.05831 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13619 340761 22 18571008 G A 347074 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . 0.6133 0.42272 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13620 340772 22 18571670 A G 352140 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.99581 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13621 340780 22 18571828 T C 352142 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.8734 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13622 340786 22 18572106 T A 351137 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.42312 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13623 340788 22 18572371 C CTTGG 347084 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13624 340795 22 18572499 T TCTCA 351141 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13625 340803 22 18572892 A G 347095 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.8734 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13626 340807 22 18573122 T C 351144 Benign Peroxisome_biogenesis_disorder_1A_(Zellweger) . . 0.99601 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13627 127267 22 18900750 G A 132724 Uncertain_significance not_provided 0.7588 0.789 0.76338 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13628 384743 22 19752609 C T 377376 Benign/Likely_benign not_specified|not_provided 0.00062 0.00091 0.001 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13629 263369 22 19868218 A G 259118 Benign not_specified|Cardiovascular_phenotype 0.7961 0.70124 0.71825 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13630 678647 22 19882630 G A 670774 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13631 263411 22 19882984 T G 259130 Benign not_specified|Cardiovascular_phenotype 0.27088 0.18788 0.2512 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13632 384718 22 19885548 G T 378611 Benign not_specified 0.24279 0.24214 0.24221 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13633 678646 22 19886797 G A 670531 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13634 678039 22 19898837 A G 670535 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13635 678639 22 19902896 C T 670540 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13636 678090 22 19905802 G A 670779 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13637 684049 22 19906096 C T 670782 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13638 678085 22 19906256 G A 670554 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13639 678638 22 19906306 C G 670565 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13640 263409 22 19906511 G A 259140 Benign not_specified|Cardiovascular_phenotype 0.21131 0.14627 0.16813 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13641 263343 22 19907099 C A 259137 Benign not_specified|Cardiovascular_phenotype 0.29557 0.44449 0.48303 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13642 263370 22 19907118 G A 259134 Benign not_specified|Cardiovascular_phenotype 0.45377 0.56488 0.59684 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13643 678637 22 19907192 A G 670556 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13644 678660 22 19907346 T C 669526 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13645 225950 22 19929027 C T 227810 drug_response Selective_serotonin_reuptake_inhibitors_respon... . . 0.07728 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13646 678640 22 19929551 A G 670792 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13647 256785 22 19950235 C T 257574 Benign not_specified 0.46009 0.46797 0.37161 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13648 256786 22 19951207 C G 257575 Benign not_specified 0.32754 0.33917 0.29693 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13649 17591 22 19951271 G A 32630 drug_response CATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM|meth... . 0.47275 0.36921 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13650 256784 22 19956262 G GC 257576 Benign not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13651 684137 22 20024174 A G 670569 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13652 672145 22 20031102 G A 669544 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13653 684139 22 20049340 T C 670568 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13654 684147 22 20049454 A G 670799 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13655 518324 22 20779768 G C 508939 Benign Marden_Walker_like_syndrome 0.6539 0.58141 0.53455 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13656 518325 22 20779822 G C 508940 Benign Marden_Walker_like_syndrome 0.28769 . 0.24221 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13657 340826 22 21213380 C T 352170 Benign Cerebral_dysgenesis,_neuropathy,_ichthyosis,_a... 0.48199 0.54728 0.46386 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13658 340830 22 21213416 A G 337552 Benign Cerebral_dysgenesis,_neuropathy,_ichthyosis,_a... 0.41655 0.53581 0.40355 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13659 340874 22 21244235 G GT 352211 Uncertain_significance Cerebral_dysgenesis,_neuropathy,_ichthyosis,_a... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13660 561399 22 21336501 G C 553053 Benign not_provided . . 0.98942 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13661 561409 22 21337266 G A 553057 Benign not_provided 0.37214 0.4203 0.35743 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13662 561529 22 21342169 G C 553062 Benign not_provided . . 0.55112 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13663 561840 22 21342811 C T 553064 Benign not_provided . . 0.45787 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13664 561426 22 21344055 A G 553071 Likely_benign not_provided . . 0.05232 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13665 561410 22 21344592 A C 553073 Benign not_provided . . 0.42871 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13666 561411 22 21344884 C T 553076 Benign not_provided . . 0.1875 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13667 561412 22 21344905 A G 553077 Benign not_provided . . 0.71206 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13668 561413 22 21344920 G C 553078 Benign not_provided . . 0.41374 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13669 561664 22 21345000 C T 553080 Likely_benign not_provided . . 0.05351 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13670 561931 22 21345613 G C 553081 Likely_benign not_provided . . 0.05491 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13671 561582 22 21346277 C T 553086 Benign not_provided . . 0.1857 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13672 379413 22 21346485 T C 378633 Benign not_provided 0.7312 0.70703 0.64397 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13673 561414 22 21346719 A C 553088 Benign not_provided . . 0.59165 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13674 561427 22 21347029 G A 553089 Likely_benign not_provided . . 0.05371 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13675 561667 22 21347349 G A 553092 Likely_benign not_provided . . 0.05272 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13676 561668 22 21347410 G T 553094 Likely_benign not_provided . . 0.05212 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13677 561841 22 21347505 C T 553095 Benign not_provided . . 0.85044 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13678 561415 22 21348084 T C 553097 Benign not_provided 0.77989 0.75341 0.74301 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13679 561428 22 21348101 G A 553098 Likely_benign not_provided . . 0.05092 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13680 561418 22 21349037 A G 553102 Benign not_provided 0.80308 . 0.7522 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13681 561669 22 21349480 A G 553106 Likely_benign not_provided . . 0.05172 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13682 561419 22 21350461 A G 553111 Benign not_provided . . 0.75439 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13683 561421 22 21350936 G A 553113 Benign not_provided 0.31639 0.29128 0.20867 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13684 769153 22 23652503 T C 778692 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13685 379953 22 24108412 G A 378642 Benign Spinal_muscular_atrophy,_jokela_type|not_speci... 0.80501 . 0.72983 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13686 379952 22 24109550 T C 378643 Benign not_specified 0.92385 0.87888 0.87101 1|1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13687 379951 22 24109774 T G 377411 Benign not_specified . 0.82171 0.8758 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13688 684097 22 24129005 T G 670574 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13689 684098 22 24134394 T C 669573 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13690 133392 22 24143502 C G 137131 not_provided not_specified . 0.79394 0.71166 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13691 677098 22 24145727 C T 670805 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13692 677102 22 24159307 A T 670813 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13693 803646 22 24717850 A G 792021 Benign Hypertelorism,_Teebi_type . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13694 803647 22 24761467 G A 792022 Benign Hypertelorism,_Teebi_type . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13695 225974 22 24825511 C T 227811 drug_response caffeine_response_-_Toxicity/ADR . . 0.40056 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13696 100154 22 24891292 C G 106031 Benign Deficiency_of_beta-ureidopropionase|not_provided . . 0.53275 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13697 340947 22 25597331 T C 347213 Benign Congenital_nuclear_cataract|not_provided 0.61164 . 0.65495 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13698 259229 22 25601196 C G 257578 Benign Congenital_nuclear_cataract|not_specified|not_... 0.57543 0.65576 0.66414 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13699 340965 22 26847586 G T 351236 Benign Hermansky-Pudlak_syndrome . . 0.85583 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13700 163670 22 26853905 C A 176369 Benign Hermansky-Pudlak_syndrome|not_specified 0.86852 0.88193 0.82728 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13701 261533 22 26853980 T C 257585 Benign not_specified 0.88831 0.90162 0.85284 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13702 163671 22 26854441 G A 176247 Benign Hermansky-Pudlak_syndrome|not_specified 0.86891 0.88177 0.82748 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13703 163672 22 26859942 C T 176370 Benign Hermansky-Pudlak_syndrome|not_specified 0.82047 . 0.79313 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13704 163673 22 26860269 G C 176248 Benign Hermansky-Pudlak_syndrome|not_specified 0.37806 0.38292 0.35423 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13705 261538 22 26861545 A G 257588 Benign not_specified 0.83923 0.86742 0.81849 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13706 261537 22 26862153 C A 257589 Benign not_specified . 0.8487 0.79074 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13707 163674 22 26862212 T C 176371 Benign Hermansky-Pudlak_syndrome|not_specified 0.82054 0.84868 0.79313 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13708 341028 22 26877981 G A 352322 Benign Hermansky-Pudlak_syndrome . . 0.78954 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13709 341029 22 26878024 A G 337688 Benign Hermansky-Pudlak_syndrome . . 0.86681 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13710 341033 22 26879691 T C 347260 Likely_benign Hermansky-Pudlak_syndrome . . 0.0649 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13711 341040 22 26879823 C A 347269 Benign Hermansky-Pudlak_syndrome . 0.8313 0.78954 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13712 677163 22 27019128 C T 669609 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13713 667637 22 27021189 A G 669612 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13714 677231 22 27021401 G A 669615 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13715 258486 22 27021425 A G 257592 Benign not_specified|not_provided 0.57128 0.51492 0.58826 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13716 258487 22 27021457 T C 257593 Benign not_specified|not_provided 0.87337 0.89265 0.92372 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13717 674008 22 27024504 C T 670609 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13718 723108 22 28379016 C T 742837 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13719 522277 22 29885567 A AAAGTCCCCTGAGAAGGCC 512967 Benign Amyotrophic_lateral_sclerosis_type_1|not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13720 66743 22 29886413 A G 77640 Benign Amyotrophic_lateral_sclerosis_type_1|not_provided 0.80086 0.81898 0.85044 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13721 683799 22 29999236 G C 670593 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13722 341065 22 29999784 C A 337721 Benign Neurofibromatosis,_type_2|not_provided . . 0.35184 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13723 341066 22 29999878 G C 352335 Benign Neurofibromatosis,_type_2 . . 0.87021 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13724 676985 22 30034994 G T 670831 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13725 676986 22 30054024 G A 670626 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13726 676987 22 30056945 G A 670628 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13727 676988 22 30057574 A G 670596 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13728 676989 22 30064117 C T 669628 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13729 683803 22 30064731 A G 669630 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13730 803676 22 30077361 G A 792051 Benign Neurofibromatosis,_type_2 . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13731 676991 22 30079213 T C 670599 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13732 341131 22 30092813 G GT 351324 Benign Neurofibromatosis,_type_2 . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13733 341149 22 30093259 C G 347385 Benign Neurofibromatosis,_type_2 . . 0.26298 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13734 341157 22 30093667 T C 352370 Benign Neurofibromatosis,_type_2 . . 0.26538 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13735 369375 22 31003069 C T 353604 Likely_benign Transcobalamin_II_deficiency . . 0.10503 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13736 341183 22 31003138 A G 352382 Benign Transcobalamin_II_deficiency . . 0.55451 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13737 97 22 31011610 G C 15136 Benign TRANSCOBALAMIN_II_POLYMORPHISM|Transcobalamin_... . . 0.57967 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation/97
13738 341219 22 31022635 C T 347426 Likely_benign Transcobalamin_II_deficiency . . 0.06749 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13739 257661 22 32266603 A G 257607 Benign Seizures|Epilepsy,_familial_focal,_with_variab... 0.02357 0.02173 0.02037 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13740 341275 22 32506906 C T 352408 Benign Congenital_glucose-galactose_malabsorption . . 0.58826 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13741 341296 22 32508457 A G 351413 Benign Congenital_glucose-galactose_malabsorption . . 0.96366 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13742 341299 22 32870769 C T 352418 Benign Parkinson_Disease,_Recessive . . 0.53834 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13743 195275 22 32875190 G A 192436 Benign Parkinson_disease_15|not_specified|Parkinson_D... 0.37229 0.44003 0.48742 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13744 341314 22 32887150 C T 347523 Benign Parkinson_disease_15|Parkinson_Disease,_Recessive 0.37221 0.43995 0.48762 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13745 341328 22 33197074 A G 352436 Benign Pseudoinflammatory_fundus_dystrophy . . 0.34185 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13746 255943 22 33253280 T C 257609 Benign Pseudoinflammatory_fundus_dystrophy|not_specified 0.61272 0.55181 0.65096 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13747 341374 22 33257163 G GA 337929 Uncertain_significance Pseudoinflammatory_fundus_dystrophy . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13748 683057 22 33733995 C T 669642 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13749 683017 22 33960676 A G 670859 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13750 683004 22 34000230 T C 670621 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13751 684050 22 34157814 T C 670896 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13752 666614 22 36661842 G A 654927 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13753 341469 22 36677914 A G 338008 Benign MYH9-related_disorder|Nonsyndromic_Hearing_Los... . . 0.17812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13754 341475 22 36678118 C T 338013 Benign MYH9-related_disorder|Nonsyndromic_Hearing_Los... . . 0.22025 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13755 38967 22 36684354 T C 47570 Benign Macrothrombocytopenia_and_granulocyte_inclusio... 0.15554 0.25841 0.29413 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13756 44565 22 36684358 C A 53732 Benign MYH9-related_disorder|not_specified|Nonsyndrom... 0.15516 0.25815 0.29373 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13757 258745 22 36690113 G A 257631 Benign not_specified 0.63342 0.59165 0.48562 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13758 44559 22 36691607 A C 53726 Benign MYH9-related_disorder|not_specified|Nonsyndrom... 0.97124 . 0.98263 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13759 258730 22 36708049 CTCCTGTGA C 257646 Benign not_specified|not_provided . 0.26282 0.30112 1/0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13760 44551 22 36708084 C T 53718 Benign MYH9-related_disorder|not_specified|Nonsyndrom... 0.7555 0.87139 0.76078 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13761 44550 22 36710183 T C 53717 Benign MYH9-related_disorder|not_specified|Nonsyndrom... 0.53468 0.56142 0.39357 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13762 198201 22 37267767 A G 195362 Benign not_specified 0.63278 0.70332 0.627 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13763 260308 22 37271882 T C 257666 Benign Chronic_granulomatous_disease|Granulomatous_di... 0.87006 0.83373 0.82808 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13764 262726 22 37462926 G A 257669 Benign Microcytic_anemia|not_specified 0.39005 0.36545 0.35603 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13765 262725 22 37462936 A G 257670 Benign Microcytic_anemia|not_specified 0.65862 . 0.60463 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13766 262724 22 37465385 CTGGGG C 257671 Benign Microcytic_anemia|not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13767 262722 22 37469591 G A 257672 Benign Microcytic_anemia|not_specified 0.60488 0.53902 0.54353 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13768 262719 22 37480797 C T 257675 Benign Microcytic_anemia|not_specified 0.34841 0.38267 0.3129 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13769 262728 22 37485724 T C 257676 Benign Microcytic_anemia|not_specified 0.39617 0.39793 0.39038 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13770 341606 22 37499692 A G 352542 Benign Microcytic_anemia . . 0.28474 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13771 369379 22 37499699 C T 353608 Benign Microcytic_anemia . . 0.31729 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13772 138864 22 37622815 A G 142567 Benign not_specified 0.22532 0.17026 0.2474 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13773 14472 22 37972628 G A 29511 risk_factor Myocardial_infarction . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13774 508110 22 38119213 G A 508413 Benign not_specified 0.54373 0.56966 0.52656 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13775 198447 22 38119754 TCAA T 195608 Benign Deafness,_autosomal_recessive_28|not_specified . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13776 508111 22 38121152 C A 507585 Benign not_specified 0.34641 0.39248 0.33626 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13777 516766 22 38122122 T C 508147 Benign not_specified 0.3501 0.39339 0.33666 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13778 286830 22 38122448 C T 271067 Benign not_specified 0.34194 0.44206 0.33666 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13779 286831 22 38122462 A G 271068 Benign not_specified 0.63105 0.7412 0.60104 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13780 43851 22 38129332 G A 53020 Benign not_specified 0.35026 0.38979 0.33726 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13781 43855 22 38130472 T C 53024 Benign not_specified 0.96474 0.9653 0.98263 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13782 257225 22 38161835 T TG 257683 Benign not_specified . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13783 341614 22 38369027 C T 352544 Benign Peripheral_demyelinating_neuropathy,_central_d... . . 0.60843 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13784 227081 22 38369976 A G 231226 Benign Peripheral_demyelinating_neuropathy,_central_d... 0.69583 0.65368 0.71326 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13785 670882 22 40757228 A C 670672 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13786 678102 22 40759308 A G 669684 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13787 341713 22 41325068 G A 347823 Benign Nephronophthisis-Like_Nephropathy . . 0.59465 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13788 93732 22 41537234 G T 99635 Benign Rubinstein-Taybi_syndrome_1|not_specified . 0.98918 0.96166 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13789 93736 22 41548008 A G 99639 Benign Rubinstein-Taybi_syndrome_1|not_specified 0.20583 0.29593 0.22344 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13790 93738 22 41551039 T A 99641 Benign Rubinstein-Taybi_syndrome_1|not_specified 0.58312 0.65725 0.67392 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13791 93741 22 41566595 C T 99644 Benign not_specified 0.22813 0.30108 0.2484 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13792 93742 22 41569609 C T 99645 Benign not_specified 0.25815 0.30847 0.26418 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13793 158555 22 41574969 TGTA T 169838 Benign Rubinstein-Taybi_syndrome_1|not_specified . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13794 128256 22 41903813 A C 133705 Benign not_specified|not_provided 0.25796 0.32105 0.41833 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13795 128257 22 41911525 C T 133706 Benign not_specified|not_provided 0.38375 0.39927 0.27037 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13796 678096 22 41913844 A G 670674 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13797 136263 22 41914593 C T 139966 Benign not_specified 0.32393 0.33711 0.48443 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13798 683113 22 41914860 T G 669696 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13799 678097 22 41916001 C G 669698 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13800 683142 22 41921665 A G 670678 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13801 678098 22 41923644 G A 670682 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13802 341885 22 42454354 G A 351725 Benign Kanzaki_disease|Schindler_disease,_type_1 . . 0.64756 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13803 341891 22 42454950 A G 351735 Benign Kanzaki_disease|Schindler_disease,_type_1 . . 0.45947 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13804 198062 22 42461918 G A 195223 Benign Kanzaki_disease|Schindler_disease,_type_1|not_... 0.2322 0.17138 0.16813 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13805 682645 22 42463366 C T 670696 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13806 682644 22 42463689 T C 670919 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13807 196242 22 42463814 C T 193403 Benign Kanzaki_disease|Schindler_disease,_type_1|not_... 0.64255 0.6728 0.67692 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13808 341917 22 42466509 C G 352623 Benign Kanzaki_disease|Schindler_disease,_type_1|not_... . . 0.64237 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13809 684292 22 42466905 C T 670700 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13810 682643 22 42466950 C T 670651 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13811 682642 22 42466980 A T 669700 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13812 516889 22 42522613 G C 508193 Likely_benign not_specified 0.40832 0.45556 0.40116 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13813 516890 22 42523943 A G 508196 Likely_benign not_specified 0.59955 0.65666 0.64078 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13814 16889 22 42524947 C T 31928 drug_response Debrisoquine,_poor_metabolism_of|not_specified... 0.15105 0.17076 0.09305 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13815 16893 22 42526694 G A 31932 Likely_benign,_other Debrisoquine,_poor_metabolism_of|not_specified... . 0.24669 0.23802 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13816 403577 22 43447891 C T 390488 Benign not_specified 0.03575 . 0.01558 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13817 403579 22 43455531 C T 390421 Benign not_specified 0.23266 0.26067 0.14816 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13818 403580 22 43459846 G A 390425 Benign not_specified 0.23335 0.24809 0.14856 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13819 341943 22 44342116 A G 348026 Likely_benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Dis... 0.68038 0.67781 0.78774 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13820 341949 22 44342325 C T 348031 Likely_benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Dis... . . 0.24661 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13821 341954 22 44342941 T TAA 338402 Likely_benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Dis... . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13822 341956 22 44343009 T A 348034 Likely_benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Dis... . . 0.16494 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13823 341970 22 45683042 C T 348048 Uncertain_significance Renal_hypodysplasia/aplasia_1 8e-05 0.00014 0.0002 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13824 341974 22 45683246 C T 338422 Benign/Likely_benign Renal_hypodysplasia/aplasia_1 0.61187 0.69709 0.54812 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13825 341977 22 45683304 G C 338423 Benign/Likely_benign Renal_hypodysplasia/aplasia_1 0.78914 0.77882 0.77436 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13826 1290 22 46731689 G T 16329 Benign Deafness,_mitochondrial,_modifier_of|Liver_fai... . 0.1967 0.10563 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13827 671698 22 46748310 T C 670657 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13828 676432 22 46752080 G C 670714 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13829 342028 22 46753179 G A 348087 Benign Liver_failure_acute_infantile . . 0.19329 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13830 342032 22 50297034 CCT C 338484 Likely_benign Congenital_disorder_of_glycosylation . 0.11407 0.06649 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13831 342038 22 50297435 T C 351793 Benign Congenital_disorder_of_glycosylation 0.38093 0.2749 0.40216 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13832 96095 22 50297888 T C 101989 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.09134 0.11215 0.09165 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13833 96102 22 50301476 T C 101996 Benign Congenital_disorder_of_glycosylation|not_speci... 0.38336 0.27037 0.40216 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13834 261688 22 50302850 A G 257696 Benign not_specified 0.38282 0.27044 0.40196 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13835 261687 22 50303515 A C 257697 Benign not_specified 0.25465 . 0.26538 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13836 96098 22 50303530 T C 101992 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.25488 0.22372 0.26558 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13837 96099 22 50303533 C G 101993 Benign/Likely_benign Congenital_disorder_of_glycosylation|not_speci... 0.25488 0.22379 0.26558 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13838 96096 22 50307184 G T 101990 Benign not_specified 0.07935 0.09349 0.07029 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13839 342066 22 50311973 A G 351806 Likely_benign Congenital_disorder_of_glycosylation . . 0.2512 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13840 342067 22 50311989 AAC A 338526 Likely_benign Congenital_disorder_of_glycosylation . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13841 342068 22 50312035 C T 352662 Likely_benign Congenital_disorder_of_glycosylation . . 0.24481 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13842 770820 22 50315936 CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG C 778490 Benign not_provided . . . 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13843 262456 22 50499964 T C 257699 Benign Megalencephalic_leukoencephalopathy_with_subco... 0.22924 0.29742 0.28295 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13844 260573 22 50518723 A G 257708 Benign not_specified 0.946 0.95145 0.97364 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13845 342119 22 50524250 G GC 348156 Benign Megalencephalic_leukoencephalopathy_with_subco... . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13846 518327 22 50658053 A G 508942 Benign Microcephaly_and_chorioretinopathy,_autosomal_... 0.95948 0.96596 0.98243 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13847 518329 22 50664612 A G 508944 Benign Microcephaly_and_chorioretinopathy,_autosomal_... 0.82439 0.79119 0.85883 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13848 258881 22 50885775 A G 257710 Benign not_specified 0.52332 0.5176 0.501 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13849 139087 22 50962078 G T 142790 Conflicting_interpretations_of_pathogenicity Hepatic_failure,_early-onset,_and_neurologic_d... 0.00861 0.00584 0.0018 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13850 139086 22 50962208 T G 142789 Benign Hepatic_failure,_early-onset,_and_neurologic_d... 0.63509 0.63835 0.65555 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13851 139082 22 50962782 C G 142785 Benign Hepatic_failure,_early-onset,_and_neurologic_d... 0.63069 . 0.65156 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13852 139081 22 50963905 C T 142784 Benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.14297 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13853 342130 22 50963965 C G 351827 Benign Hepatic_failure,_early-onset,_and_neurologic_d... . . 0.53395 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13854 130693 22 50964236 G A 136139 Benign Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_... 0.06836 . 0.14277 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13855 137878 22 50964255 C T 141581 Benign/Likely_benign Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_... 0.03784 0.05454 0.02376 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13856 130694 22 50964862 G A 136140 Benign Hepatic_failure,_early-onset,_and_neurologic_d... 0.63048 0.67213 0.53295 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13857 671618 22 50966914 T C 670728 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13858 670262 22 50967269 A G 669706 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13859 128729 22 51020668 C A 134178 Benign not_specified|Congenital_Muscular_Dystrophy,_C... 0.5694 0.70072 0.70328 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13860 668085 22 51021579 A C 669723 Benign not_provided . . . 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13861 668084 22 51021599 C T 669726 Benign not_provided . . . 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13862 342205 22 51062222 G C 348215 Benign Metachromatic_leukodystrophy . . 0.47624 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13863 342214 22 51062654 T C 352699 Benign Metachromatic_leukodystrophy . . 0.83486 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13864 342216 22 51062718 C T 351896 Benign Metachromatic_leukodystrophy . . 0.34904 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13865 342221 22 51062891 C G 348232 Benign Metachromatic_leukodystrophy . . 0.35104 0|1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13866 342227 22 51063233 A T 351906 Likely_benign Metachromatic_leukodystrophy . . 0.11362 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13867 93118 22 51063987 G C 99025 Benign not_specified|not_provided 0.74992 0.79769 0.81909 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13868 21184 22 51064039 G C 34036 Benign Metachromatic_leukodystrophy|not_specified|not... 0.48408 0.48431 0.40555 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13869 672054 22 51066921 G A 670684 Benign not_provided . . . 1|0 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13870 403431 22 51117580 T C 390489 Benign History_of_neurodevelopmental_disorder|not_spe... 0.47998 0.51155 0.34325 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13871 402335 22 51182485 A G 390377 Benign not_specified|not_provided . 0.66127 0.63838 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13872 93092 X 591926 T G 98999 Benign not_specified|not_provided 0.96725 . 0.95868 1/1 HOM https://www.ncbi.nlm.nih.gov/clinvar/variation...
13873 265860 X 605654 A AAG 260560 Uncertain_significance Short_stature,_idiopathic,_X-linked . . 0.12212 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13874 178717 X 1422868 G A 178252 Benign not_specified 0.37983 0.3715 0.32662 0/1 HET https://www.ncbi.nlm.nih.gov/clinvar/variation...
13875 379979 X 2748253 G C 380029 Benign not_specified 0.92651 0.95768 0.91868 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13876 684112 X 2748421 G A 670773 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13877 684114 X 2772398 T G 670781 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13878 684117 X 2772792 C T 669917 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13879 684124 X 2777560 A G 671107 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13880 379982 X 2777985 C T 379223 Benign not_specified 0.60771 0.70164 0.57828 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13881 684126 X 2778322 G A 669922 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13882 684129 X 2778433 C G 670885 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13883 684131 X 2779330 T C 671108 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13884 379983 X 2779570 A G 378170 Benign not_specified 0.5918 0.66782 0.57536 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13885 157730 X 2852951 G A 167578 Benign not_specified|not_provided 0.45809 0.62598 0.56583 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13886 157728 X 2856155 C T 167576 Benign Chondrodysplasia_punctata_1,_X-linked_recessiv... 0.49223 0.6593 0.57457 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13887 667510 X 2861459 G C 669926 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13888 674716 X 2877835 G A 671112 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13889 769169 X 3228653 G C 706214 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13890 95987 X 5821786 G A 101883 Benign History_of_neurodevelopmental_disorder|not_spe... 0.14276 0.11369 0.1208 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13891 255564 X 8503641 G A 257885 Benign not_specified 0.55193 0.56948 0.48185 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13892 673328 X 8504652 T C 671095 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13893 255563 X 8504833 C T 257886 Benign not_specified 0.56357 0.59157 0.48821 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13894 667655 X 8508062 C T 671188 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13895 129215 X 11133069 C T 134661 Benign History_of_neurodevelopmental_disorder|not_spe... 0.02177 0.01838 0.00848 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13896 95614 X 12722616 C G 101512 Benign not_specified 0.99479 0.99285 0.99523 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13897 367968 X 13730787 G C 338927 Benign Spondyloepiphyseal_dysplasia . . 0.77298 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13898 367970 X 13731222 CA C 338933 Benign Spondyloepiphyseal_dysplasia . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13899 367978 X 13731569 C CAAAAAAAA 348506 Benign Spondyloepiphyseal_dysplasia . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13900 367981 X 13731696 C G 352077 Benign Spondyloepiphyseal_dysplasia . . 0.69669 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13901 41157 X 13752895 G T 49579 Benign Orofaciodigital_syndrome_I . . 0.37669 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13902 94370 X 13771576 A G 100270 Benign not_specified 0.23402 0.33612 0.38384 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13903 691313 X 14862279 T C 678986 Likely_benign Hypothyroidism,_central,_and_testicular_enlarg... . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13904 691312 X 14862289 A G 678987 Likely_benign Hypothyroidism,_central,_and_testicular_enlarg... . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13905 93467 X 14868806 A G 99372 Benign VACTERL_association_with_hydrocephalus|Hypothy... 0.55391 0.56376 0.43364 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13906 691303 X 14882553 T G 678995 Likely_benign Hypothyroidism,_central,_and_testicular_enlarg... . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13907 691297 X 14883948 G A 679001 Likely_benign Hypothyroidism,_central,_and_testicular_enlarg... . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13908 368036 X 14887147 C G 352786 Benign VACTERL_association_with_hydrocephalus|Hypothy... . . 0.52556 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13909 96644 X 17705850 C CT 102537 Benign/Likely_benign not_specified . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13910 136713 X 18638082 A C 140416 Benign History_of_neurodevelopmental_disorder|not_spe... 0.03308 0.03976 0.01669 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13911 96546 X 23398214 T C 102440 Benign History_of_neurodevelopmental_disorder|not_spe... 0.70709 0.59425 0.6355 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13912 128994 X 24073761 C T 134440 Likely_benign not_specified 0.50014 . 0.36318 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13913 368183 X 28605876 GT G 352823 Benign Non-syndromic_X-linked_intellectual_disability . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13914 680543 X 31198204 A G 670807 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13915 94854 X 31224684 A G 100754 Benign/Likely_benign Dilated_cardiomyopathy_3B|not_specified 0.82647 0.88361 0.80397 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13916 671240 X 31224881 G A 671117 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13917 672561 X 31224994 A G 670811 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13918 678092 X 31225071 A G 669960 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13919 678473 X 31225080 G GAA 669963 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13920 680541 X 31225499 A G 671119 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13921 680544 X 31240905 C A 671121 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13922 672560 X 31241026 A G 670823 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13923 671291 X 31279271 T C 669971 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13924 680538 X 31332258 C A 671123 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13925 680536 X 31332294 C T 671124 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13926 166667 X 31496350 C T 177478 Benign Duchenne_muscular_dystrophy|not_specified 0.95682 0.90452 0.88185 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13927 94783 X 31676096 G A 100683 Benign/Likely_benign Dilated_cardiomyopathy_3B|not_specified 0.33889 0.33978 0.32848 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13928 679287 X 31792559 G A 670940 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13929 672525 X 31838359 T G 670949 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13930 674303 X 31893149 C G 670951 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13931 671088 X 31897253 G A 670832 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13932 439609 X 31986430 C A 433498 Benign not_specified|not_provided 0.26372 0.32935 0.32901 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13933 671238 X 31986774 C T 669996 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13934 672522 X 32328572 C T 670967 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13935 679286 X 32363822 C T 670980 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13936 94657 X 32380996 C T 100557 Benign/Likely_benign Duchenne_muscular_dystrophy|Dilated_cardiomyop... 0.33311 0.51417 0.46517 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13937 671085 X 32383034 C T 670009 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13938 672517 X 32383469 C T 671134 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13939 672488 X 32536452 A G 670865 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13940 680537 X 32562998 T C 670867 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13941 679284 X 32563054 C T 670039 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13942 94495 X 32563263 A G 100395 Benign/Likely_benign Dilated_cardiomyopathy_3B|not_specified 0.32472 0.32035 0.41219 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13943 671082 X 32614103 C T 670874 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13944 671081 X 32614116 C A 671141 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13945 680546 X 32614247 A G 670046 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13946 680545 X 32632856 A G 671024 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13947 674341 X 32662122 C T 671143 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13948 671236 X 32827465 A G 670883 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13949 678471 X 33192255 G A 670061 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13950 98793 X 38170067 A G 104683 Likely_benign not_specified|not_provided 0.03778 0.01873 0.04132 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13951 92856 X 38182792 C T 98763 Benign not_specified 0.21044 0.22818 0.37192 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13952 680701 X 38262566 A G 671038 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13953 676164 X 38262808 G A 671150 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13954 680703 X 38272193 T C 670065 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13955 95772 X 39911657 C A 101669 Benign Oculofaciocardiodental_syndrome|History_of_neu... 0.19072 0.15765 0.13669 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13956 668777 X 40447956 T TTTTG 670927 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13957 680088 X 41412729 T C 671054 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13958 668858 X 41448495 G T 670096 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13959 368312 X 46740032 G A 352863 Benign Retinitis_pigmentosa_15 . . 0.98358 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13960 368331 X 47061018 C G 352254 Benign Spinal_muscular_atrophy,_X-linked_2|not_specif... 0.98921 . 0.97113 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13961 368382 X 47327111 T C 352264 Benign Non-syndromic_X-linked_intellectual_disability . . 0.77934 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13962 720215 X 47446041 G A 729615 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13963 96364 X 47466361 A G 102258 Benign History_of_neurodevelopmental_disorder|not_spe... 0.39828 0.38082 0.36874 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13964 402535 X 47483800 G A 390437 Benign not_specified 0.23819 0.22872 0.20689 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13965 158531 X 48382174 G T 170112 Benign not_specified 0.29272 . 0.31523 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13966 95309 X 48759204 C T 101208 Benign Renpenning_syndrome_1|History_of_neurodevelopm... 0.57361 0.61238 0.62543 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13967 197791 X 48935284 C A 194952 Benign not_specified 0.04382 0.08107 0.01748 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13968 166778 X 49075777 C T 177540 Benign/Likely_benign not_specified|not_provided 0.04365 0.05281 0.01881 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13969 284920 X 49105610 T C 269157 Benign not_specified 0.52382 0.55627 0.47523 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13970 804001 X 49767835 A G 792471 Benign Dent_disease_1 . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13971 95973 X 50350674 T C 101869 Benign not_specified 0.31052 . 0.29987 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13972 95971 X 50350728 T TTCC 101867 Benign not_specified . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13973 94872 X 53228148 C A 100772 Benign not_specified 0.78292 0.89198 0.73033 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13974 683643 X 53278322 T C 671165 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13975 95364 X 53449568 G A 101263 Benign not_specified|Cornelia_de_Lange_Syndrome 0.40604 0.51629 0.39841 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13976 96203 X 53563589 A G 102097 Benign History_of_neurodevelopmental_disorder|not_spe... 0.99195 0.99734 0.99497 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13977 129253 X 53641647 T C 134699 Benign History_of_neurodevelopmental_disorder|not_spe... 0.37792 0.48955 0.38967 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13978 96550 X 57474943 A T 102443 Benign not_specified 0.90419 0.97372 0.91444 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13979 667774 X 67431814 A G 671077 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13980 667771 X 67432299 C T 671168 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13981 667769 X 67652513 A G 670134 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13982 44207 X 69250308 C T 53374 Benign not_specified 0.3079 0.34418 0.22172 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13983 287265 X 69672462 G C 271502 Benign not_specified 0.26653 0.33432 0.34676 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13984 670932 X 70338399 A G 670962 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13985 259633 X 70339498 C T 257867 Benign/Likely_benign not_specified|not_provided 0.23135 0.23317 0.11126 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13986 683968 X 70340322 C G 670964 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13987 674293 X 70340738 A G 671170 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13988 95257 X 70341169 A C 101156 Benign not_specified|not_provided 0.23677 0.22298 0.11417 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13989 674530 X 70342820 A G 670970 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13990 673346 X 70343621 A G 671172 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13991 674295 X 70344331 G C 671173 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13992 673347 X 70344763 G T 671078 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13993 674531 X 70345683 T G 670973 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13994 674532 X 70348344 G A 670976 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13995 95248 X 70349947 A C 101147 Benign History_of_neurodevelopmental_disorder|not_spe... 0.22591 0.24611 0.11099 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13996 259637 X 70352417 T C 257871 Benign not_specified|not_provided 0.23861 0.23837 0.11815 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13997 674533 X 70352516 A G 671174 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13998 674534 X 70355258 CTT C 670982 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
13999 683154 X 70355882 A T 670983 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14000 673789 X 70355942 G C 671175 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14001 673790 X 70356642 T C 670148 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14002 673791 X 70361608 T C 670986 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14003 673349 X 70361967 G A 671081 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14004 667467 X 73740502 T C 670162 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14005 159903 X 73749319 T G 170185 Likely_benign not_specified 0.59001 0.60577 0.34384 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14006 678099 X 77166449 T C 671086 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14007 92384 X 77298857 G A 98295 Benign Menkes_kinky-hair_syndrome|History_of_neurodev... . 1 1 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14008 368680 X 79925246 A G 352952 Benign Non-syndromic_X-linked_intellectual_disability . . 0.52106 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14009 368720 X 79931831 CGTGT C 339605 Benign Non-syndromic_X-linked_intellectual_disability . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14010 281080 X 79943569 T C 265317 Benign not_specified 0.99025 0.9972 0.98967 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14011 811240 X 82764040 AGG GGC 800324 Benign Deafness,_X-linked_2 . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14012 130847 X 84501033 C T 136291 Benign Non-syndromic_X-linked_intellectual_disability... . . 0.23364 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14013 368751 X 84526987 A G 339626 Benign Non-syndromic_X-linked_intellectual_disability . . 0.23311 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14014 368755 X 84527466 A G 349119 Benign Premature_ovarian_failure_2b|Non-syndromic_X-l... . . 0.23338 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14015 368762 X 84532801 C T 352978 Benign Premature_ovarian_failure_2b|Non-syndromic_X-l... . . 0.23311 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14016 368763 X 84532996 T G 352979 Benign Premature_ovarian_failure_2b|Non-syndromic_X-l... . . 0.23391 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14017 368767 X 84533408 G T 352466 Benign Premature_ovarian_failure_2b . . 0.23417 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14018 368771 X 84533758 A G 352983 Benign Premature_ovarian_failure_2b . . 0.13589 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14019 368776 X 84534115 T G 352985 Benign Premature_ovarian_failure_2b . . 0.23391 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14020 368780 X 84534383 A C 339631 Benign Premature_ovarian_failure_2b 0.99412 0.62123 0.98861 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14021 368787 X 84563135 T A 352472 Benign Premature_ovarian_failure_2b 0.83054 0.853 0.91205 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14022 670593 X 99665285 G A 670946 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14023 670592 X 99665333 C G 669731 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14024 670790 X 99919733 G A 670948 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14025 667526 X 99920975 G A 670691 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14026 691856 X 102436640 T C 679561 Benign not_specified . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14027 691854 X 103036909 AG A 679563 Benign not_specified . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14028 670482 X 103040400 T C 669752 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14029 258270 X 107418906 A G 257731 Benign not_specified 0.98305 0.99511 0.98384 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14030 258267 X 107433688 A G 257734 Benign not_specified 0.74259 0.68513 0.57325 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14031 369632 X 110464173 CA C 353861 Benign Non-syndromic_X-linked_intellectual_disability . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14032 238289 X 110963338 T C 243731 Benign History_of_neurodevelopmental_disorder|Epilept... 0.01305 0.01862 0.0053 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14033 676336 X 113818582 G C 656729 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14034 9885 X 113965735 G C 24924 Benign SEROTONIN_5-HT-2C_RECEPTOR_POLYMORPHISM|not_pr... . 0.15437 0.16583 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14035 684056 X 118972782 A G 670784 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14036 673765 X 118977332 A G 670789 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14037 670475 X 118985598 C T 670985 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14038 684051 X 118987177 T C 670993 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14039 367743 X 119560599 T C 351990 Likely_benign Hypertrophic_cardiomyopathy|Danon_disease . . 0.70967 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14040 679266 X 119691591 T C 669829 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14041 367863 X 123047453 T A 348434 Benign Lymphoproliferative_syndrome . 0.04183 0.02172 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14042 367875 X 123505439 GA G 348443 Benign Lymphoproliferative_syndrome . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14043 367885 X 123506562 A G 352057 Benign Lymphoproliferative_syndrome . . 0.18861 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14044 804084 X 128674631 T TG 792121 Benign Lowe_syndrome . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14045 11567 X 128870791 C A 26606 risk_factor Angioedema_induced_by_ACE_inhibitors,_suscepti... . . 0.23099 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14046 197828 X 128957640 T C 194989 Benign not_specified 0.93297 0.90696 0.80053 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14047 683838 X 129265394 A G 670718 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14048 677968 X 129269780 G C 670721 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14049 367892 X 129283520 A G 352059 Benign Deafness,_X-linked_5|Combined_oxidative_phosph... 0.5098 0.43294 0.49113 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14050 677967 X 129283786 A G 670810 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14051 257593 X 130416958 C T 257749 Benign Hypothyroidism,_central,_and_testicular_enlarg... 0.8882 0.96828 0.90623 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14052 670935 X 133511988 G A 670725 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14053 94028 X 148055144 A G 99930 Benign not_specified 0.93506 0.98291 0.95417 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14054 92619 X 148582549 G A 98527 Benign Mucopolysaccharidosis,_MPS-II|History_of_neuro... 0.34308 0.27831 0.19258 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14055 159450 X 152018832 T G 170076 Benign not_specified 0.8207 0.87637 0.86146 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14056 518408 X 152807923 G C 508950 Benign Spinocerebellar_ataxia,_X-linked_1 0.99025 0.99696 0.98861 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14057 518409 X 152815089 A G 508951 Benign Spinocerebellar_ataxia,_X-linked_1 0.98949 0.99668 0.98543 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14058 518410 X 152821887 C T 508952 Benign Spinocerebellar_ataxia,_X-linked_1 0.94094 0.98221 0.9457 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14059 518411 X 152823728 G C 508953 Benign Spinocerebellar_ataxia,_X-linked_1 0.38938 0.5286 0.47391 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14060 518412 X 152825414 G T 508954 Benign Spinocerebellar_ataxia,_X-linked_1 0.85269 0.93166 0.88106 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14061 130355 X 152954025 A G 135802 Benign Creatine_deficiency,_X-linked|History_of_neuro... . 1 . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14062 439347 X 153008911 C T 433335 Benign not_specified 0.57527 0.65042 0.61351 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14063 166627 X 153008970 C T 177456 Benign/Likely_benign Adrenoleukodystrophy|History_of_neurodevelopme... 0.0128 . 0.01033 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14064 92313 X 153009197 G C 98224 Benign Adrenoleukodystrophy|History_of_neurodevelopme... 0.75885 0.71965 0.7404 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14065 368066 X 153010066 C T 352124 Benign Adrenoleukodystrophy . . 0.73113 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14066 368067 X 153010083 G A 339037 Benign Adrenoleukodystrophy . . 0.45987 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14067 369635 X 153010224 C T 353864 Benign Adrenoleukodystrophy . . 0.73854 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14068 804115 X 153151280 G GCC 792154 Benign X-linked_hydrocephalus_syndrome . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14069 804116 X 153151284 GT G 792155 Benign X-linked_hydrocephalus_syndrome . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14070 804117 X 153151423 G GCGGC 792156 Likely_benign X-linked_hydrocephalus_syndrome . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14071 254772 X 153170980 T G 257778 Benign/Likely_benign Nephrogenic_diabetes_insipidus|Nephrogenic_dia... . 0.9993 0.99921 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14072 402391 X 153176254 A G 390496 Benign not_specified 0.55798 0.59133 0.7049 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14073 95281 X 153215839 G A 101180 Benign not_specified 0.4393 0.43199 0.19126 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14074 156056 X 153297392 A G 165852 Benign not_specified|not_provided . . 0.63046 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14075 167075 X 153577722 T C 177710 Benign/Likely_benign Connective_tissue_disorder|not_specified|not_p... 0.00072 0.00055 0.00053 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14076 670955 X 153579448 A G 669893 Benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14077 95327 X 153629155 A G 101226 Benign History_of_neurodevelopmental_disorder|not_spe... . 0.82608 0.66887 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14078 368091 X 153649813 G C 352797 Benign Endocardial_fibroelastosis|Left_ventricular_no... . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14079 129149 X 153667176 T C 134595 Benign History_of_neurodevelopmental_disorder|not_spe... 0.30976 0.18882 0.29086 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14080 726401 X 153694535 G C 743254 Likely_benign not_provided . . . 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14081 368096 X 153759858 T C 352799 Likely_benign Glucose_6_phosphate_dehydrogenase_deficiency . . 0.41536 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14082 93494 X 153760508 A G 99399 Benign/Likely_benign Glucose_6_phosphate_dehydrogenase_deficiency|n... 0.39235 0.25439 0.41483 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14083 166994 X 153994596 G T 177673 Benign/Likely_benign Dyskeratosis_congenita_X-linked|not_specified 0.99186 0.99744 0.99258 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14084 368105 X 154064200 C T 339078 Benign Hemophilia_A,_FVIII_Deficiency . . 0.55603 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14085 368133 X 154488432 G A 339086 Benign Non-syndromic_X-linked_intellectual_disability . . 0.40397 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...
14086 93695 X 154507173 T G 99598 Benign not_specified 0.35151 0.28438 0.35417 1 . https://www.ncbi.nlm.nih.gov/clinvar/variation...