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+ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
Variant IDAllele IDClinical SignificanceDisease NameFrequency EXACFrequency 1000 Genomes ProjectZygosityURL
263159249309Benignnot_specified
not_provided
0.894640.79413HOM Link to ClinVar
677947656915Benignnot_provided..HOM Link to ClinVar
263160249310Benignnot_specified0.560940.47923HOM Link to ClinVar
677948656961Benignnot_provided..HOM Link to ClinVar
263172249321Benignnot_specified
not_provided
0.912750.86941HOM Link to ClinVar
263175249324Likely_benignnot_specified0.00018.HET Link to ClinVar
128297133746Benignnot_specified0.876750.79772HOM Link to ClinVar
677950656892Benignnot_provided..HOM Link to ClinVar
677951656963Benignnot_provided..HOM Link to ClinVar
677952656900Benignnot_provided..HOM Link to ClinVar
263181249331Benignnot_specified.0.79992HOM Link to ClinVar
128302133751Benignnot_specified0.898930.83586HOM Link to ClinVar
679293656918Benignnot_provided..HOM Link to ClinVar
128307133756Benignnot_specified0.629480.54573HOM Link to ClinVar
263188249338Benignnot_specified0.543650.49521HOM Link to ClinVar
263191249341Benignnot_specified0.456650.33546HOM Link to ClinVar
263192249342Benignnot_specified0.530060.52556HOM Link to ClinVar
677954656926Benignnot_provided..HOM Link to ClinVar
128317133766Benignnot_specified0.875690.78874HOM Link to ClinVar
677955656939Benignnot_provided..HOM Link to ClinVar
128319133768Benignnot_specified0.637640.58526HOM Link to ClinVar
256824249668Benignnot_specified0.804440.77556HOM Link to ClinVar
256823249669Benignnot_specified
not_provided
0.593390.5613HOM Link to ClinVar
672361657433Benignnot_provided..HOM Link to ClinVar
673794657434Benignnot_provided..HET Link to ClinVar
262791249841Benign/Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.152960.08087HET Link to ClinVar
135349139088not_providednot_specified0.544310.61482HET Link to ClinVar
133399137138not_providednot_specified0.006130.0014HET Link to ClinVar
133404137143not_providednot_specified0.589910.64078HET Link to ClinVar
133406137145not_providednot_specified.0.59784HET Link to ClinVar
133414137153not_providednot_specified0.659610.64397HET Link to ClinVar
135355139094not_providednot_specified0.129530.11382HET Link to ClinVar
674706657839Benignnot_provided..HET Link to ClinVar
674729657891Benignnot_provided..HET Link to ClinVar
674731657892Benignnot_provided..HET Link to ClinVar
683706657896Benignnot_provided..HET Link to ClinVar
674732657843Benignnot_provided..HET Link to ClinVar
674733657844Benignnot_provided..HET Link to ClinVar
674735657849Benignnot_provided..HET Link to ClinVar
669552657852Benignnot_provided..HET Link to ClinVar
227026228438BenignLeft_ventricular_noncompaction_8
not_specified
.0.94509HET Link to ClinVar
227027228440Benignnot_specified0.131030.10603HET Link to ClinVar
381194365234Benignnot_specified0.215510.10703HET Link to ClinVar
678600657927Benignnot_provided..HET Link to ClinVar
674714657890Benignnot_provided..HET Link to ClinVar
683707657895Benignnot_provided..HET Link to ClinVar
260559249994Benignnot_specified0.445790.31789HET Link to ClinVar
95683101580BenignNephronophthisis
Renal_dysplasia_and_retinal_aplasia
not_specified
not_provided
0.460430.31969HET Link to ClinVar
260554249999Benignnot_specified0.656570.56929HOM Link to ClinVar
260553250000Benignnot_specified0.314270.27117HET Link to ClinVar
167375177885BenignNephronophthisis_4
not_specified
not_provided
0.836250.84325HOM Link to ClinVar
260547250004Benignnot_specified0.810790.83267HET Link to ClinVar
682801658000Benignnot_provided..HET Link to ClinVar
682802658028Benignnot_provided..HET Link to ClinVar
297904281043BenignDistal_spinal_muscular_atrophy0.169380.20228HET Link to ClinVar
297905281645BenignDistal_spinal_muscular_atrophy..HET Link to ClinVar
297906281648BenignDistal_spinal_muscular_atrophy..HET Link to ClinVar
297910281658Likely_benignDistal_spinal_muscular_atrophy.0.08626HET Link to ClinVar
297912283150BenignDistal_spinal_muscular_atrophy.0.20427HET Link to ClinVar
297916283153BenignDistal_spinal_muscular_atrophy.0.20108HET Link to ClinVar
297928282866BenignDistal_spinal_muscular_atrophy.0.26697HET Link to ClinVar
667940658030Benignnot_provided..HET Link to ClinVar
285568269805Benign/Likely_benignDistal_spinal_muscular_atrophy
not_specified
0.053530.05571HET Link to ClinVar
194979192141Benign/Likely_benignDistal_spinal_muscular_atrophy
not_specified
..HET Link to ClinVar
194881192043BenignDistal_spinal_muscular_atrophy
not_specified
0.172340.26957HET Link to ClinVar
667938657887Benignnot_provided..HET Link to ClinVar
670557657962Benignnot_provided..HOM Link to ClinVar
297959281077Likely_benignDistal_spinal_muscular_atrophy0.062930.05531HET Link to ClinVar
198895196055BenignDistal_spinal_muscular_atrophy
not_specified
0.221240.28574HET Link to ClinVar
667937658029Benignnot_provided..HET Link to ClinVar
298113283315BenignParkinson_Disease,_Recessive.0.63738HOM Link to ClinVar
721172719112Likely_benignnot_provided..HET Link to ClinVar
260540249268Benignnot_specified0.032670.01458HET Link to ClinVar
129400134846Benign/Likely_benignPheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2
not_specified
not_provided
0.112760.08027HET Link to ClinVar
291606275918Likely_benignPheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2
.0.09365HET Link to ClinVar
291608275756Likely_benignPheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2
.0.09365HET Link to ClinVar
291609275764Uncertain_significancePheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2
..HET Link to ClinVar
291618275844BenignPheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2
.0.54653HET Link to ClinVar
368794353023BenignPheochromocytoma
Neuroblastoma
Charcot-Marie-Tooth_disease,_type_2
.0.52696HET Link to ClinVar
95145101045BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.157870.19489HET Link to ClinVar
167454177935Benign/Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.157760.10363HET Link to ClinVar
522225512791BenignAmyotrophic_lateral_sclerosis_type_10..HET Link to ClinVar
291763276114BenignFrontotemporal_dementia
MASP2_deficiency
Amyotrophic_Lateral_Sclerosis,_Dominant
..HET Link to ClinVar
291772275885BenignFrontotemporal_dementia
MASP2_deficiency
Amyotrophic_Lateral_Sclerosis,_Dominant
.0.70967HET Link to ClinVar
291781275846BenignFrontotemporal_dementia
MASP2_deficiency
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
0.78550.6875HET Link to ClinVar
291785275927Likely_benignMASP2_deficiency0.052850.11841HET Link to ClinVar
291790275866BenignMASP2_deficiency0.061770.13139HET Link to ClinVar
516652497964Benignnot_specified0.218440.22065HET Link to ClinVar
380311364358Benignnot_specified0.221520.22863HET Link to ClinVar
516653498006Benignnot_specified0.716980.63958HET Link to ClinVar
291872275981Likely_benignSchnyder_crystalline_corneal_dystrophy.0.00919HET Link to ClinVar
291887276079BenignSchnyder_crystalline_corneal_dystrophy..HOM Link to ClinVar
292153276302BenignNeural_tube_defects,_folate-sensitive..HOM Link to ClinVar
292158276582Likely_benignNeural_tube_defects,_folate-sensitive.0.70647HET Link to ClinVar
292160276602BenignNeural_tube_defects,_folate-sensitive.0.93331HOM Link to ClinVar
292171276604Likely_benignNeural_tube_defects,_folate-sensitive..HET Link to ClinVar
292181276668Likely_benignNeural_tube_defects,_folate-sensitive.0.55851HET Link to ClinVar
292191276111Likely_benignNeural_tube_defects,_folate-sensitive0.236780.1268HET Link to ClinVar
292203276650BenignNeural_tube_defects,_folate-sensitive.0.93051HOM Link to ClinVar
292209276356BenignNeural_tube_defects,_folate-sensitive0.987120.93291HOM Link to ClinVar
292223276753Likely_benignNeural_tube_defects,_folate-sensitive.0.6284HET Link to ClinVar
167306177842BenignNeural_tube_defects,_folate-sensitive
not_specified
0.969660.90296HOM Link to ClinVar
352118560Conflicting_interpretations_of_pathogenicity,_otherSchizophrenia,_susceptibility_to
Gastrointestinal_stroma_tumor
MTHFR_deficiency,_thermolabile_type
Neural_tube_defects,_folate-sensitive
not_specified
not_provided
0.2950.2494HET Link to ClinVar
352018559drug_responseVenous_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
0.303670.24541HET Link to ClinVar
683180657052Benignnot_provided..HET Link to ClinVar
439571432974Benignnot_specified.0.18291HET Link to ClinVar
439565432977BenignHereditary_pancreatitis.0.17133HET Link to ClinVar
439563432983BenignHereditary_pancreatitis.0.35763HET Link to ClinVar
585697576424BenignBartter_syndrome,_type_4b
not_provided
0.563640.64297HOM Link to ClinVar
585696576425Benignnot_provided0.688220.749HOM Link to ClinVar
447107440382Benignnot_specified
not_provided
.0.55551HOM Link to ClinVar
447104440387Benignnot_specified
not_provided
0.802230.74042HOM Link to ClinVar
447105440388Benignnot_specified
not_provided
0.929840.89397HOM Link to ClinVar
381050364523Benign/Likely_benignnot_specified
not_provided
0.80080.73862HOM Link to ClinVar
789426706794Benignnot_provided..HET Link to ClinVar
447108440389Benignnot_specified
not_provided
0.909630.82987HOM Link to ClinVar
377683364524Benignnot_specified
not_provided
0.911350.83007HOM Link to ClinVar
504914496594Benignnot_specified0.231370.16254HET Link to ClinVar
447094440394Benignnot_specified0.931010.83826HOM Link to ClinVar
447096440395Benignnot_specified
not_provided
0.658570.70168HET Link to ClinVar
447097440396Benignnot_specified
not_provided
0.621030.61362HET Link to ClinVar
293400278005BenignAge-related_cortical_cataract.0.90575HOM Link to ClinVar
767658696246Likely_benignnot_provided..HET Link to ClinVar
772652696248Benignnot_provided..HET Link to ClinVar
128475133924BenignParkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.506530.33127HET Link to ClinVar
559000549503Benignnot_provided0.495820.34685HET Link to ClinVar
128473133922BenignParkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.464790.33846HET Link to ClinVar
128470133919BenignParkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.463860.34625HET Link to ClinVar
128466133915BenignParkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.458950.33866HET Link to ClinVar
128465133914BenignParkinson_disease_9
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.553970.44848HET Link to ClinVar
703790695018Benignnot_provided..HET Link to ClinVar
258889249532Benignnot_specified0.971890.95907HOM Link to ClinVar
4464153808BenignPheochromocytoma
Hereditary_cancer-predisposing_syndrome
Paraganglioma_and_gastric_stromal_sarcoma
not_specified
.0.95707HOM Link to ClinVar
590790581729associationRheumatoid_arthritis0.561920.51518HET Link to ClinVar
294367279073Likely_benignHyperprolinemia0.104390.04792HET Link to ClinVar
294382278123BenignHyperprolinemia0.707170.64157HET Link to ClinVar
262027249677Benignnot_specified
Parkinson_Disease,_Recessive
not_provided
0.862280.82189HOM Link to ClinVar
262028249678Benignnot_specified
Parkinson_Disease,_Recessive
not_provided
0.862760.82069HOM Link to ClinVar
295004278643Benign/Likely_benignParkinson_disease_6,_autosomal_recessive_early-onset
Parkinson_Disease,_Recessive
0.092110.1228HET Link to ClinVar
295006279809Benign/Likely_benignCongenital_disorder_of_glycosylation
Parkinson_disease_6,_autosomal_recessive_early-onset
not_specified
Parkinson_Disease,_Recessive
0.297390.30052HOM Link to ClinVar
295011278644BenignCongenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive
0.863890.83447HOM Link to ClinVar
295013278645BenignCongenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive
.0.83666HOM Link to ClinVar
295014278656Likely_benignCongenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive
.0.30012HOM Link to ClinVar
295021278548Uncertain_significanceParkinson_Disease,_Recessive..HET Link to ClinVar
295024279966Likely_benignCongenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive
.0.29992HOM Link to ClinVar
295030279967Likely_benignCongenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive
.0.30272HOM Link to ClinVar
295031278679Likely_benignCongenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive
..HOM Link to ClinVar
295057279865BenignCongenital_disorder_of_glycosylation
Parkinson_Disease,_Recessive
.0.82488HOM Link to ClinVar
258081249711Benignnot_specified0.240520.16014HET Link to ClinVar
258080249712Benignnot_specified0.220410.14677HET Link to ClinVar
197678194839Benignnot_specified0.944980.92951HET Link to ClinVar
295558279050BenignHypophosphatasia.0.33666HET Link to ClinVar
295561278910BenignHypophosphatasia.0.86821HOM Link to ClinVar
295563278914BenignHypophosphatasia.0.16454HET Link to ClinVar
295571278920Likely_benignHypophosphatasia..HET Link to ClinVar
295685280433BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
.0.31989HET Link to ClinVar
295695280437BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
not_provided
.0.78035HOM Link to ClinVar
295700280442BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
0.184870.17612HET Link to ClinVar
295701278997BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
..HET Link to ClinVar
295707279137BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
0.298210.25719HET Link to ClinVar
439796433613Benignnot_specified.0.76338HOM Link to ClinVar
618168609379Benignnot_specified0.182070.15635HET Link to ClinVar
618169609380Benignnot_specified0.184710.17153HET Link to ClinVar
295723280489BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
.0.15775HET Link to ClinVar
295729280462BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided
0.175750.16414HET Link to ClinVar
295733279065BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
0.174760.15955HET Link to ClinVar
295750280514BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
not_provided
0.287570.34605HET Link to ClinVar
295753279250BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided
0.17280.15216HET Link to ClinVar
295787280605BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
0.811560.76198HOM Link to ClinVar
291236275473BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
not_provided
0.746310.69149HET Link to ClinVar
285755269992BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
not_provided
0.606650.42492HOM Link to ClinVar
295864279443BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_specified
0.983740.94229HOM Link to ClinVar
295881280764BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided
.0.92991HOM Link to ClinVar
295882280765BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided
0.981180.92991HOM Link to ClinVar
295887279454BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided
0.993120.97364HOM Link to ClinVar
439797433614Benignnot_specified0.968770.92592HOM Link to ClinVar
295910280779BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided
0.576940.44449HOM Link to ClinVar
295912280780BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided
.0.44449HOM Link to ClinVar
295913280781BenignDyssegmental_Dysplasia
Schwartz_Jampel_syndrome_type_1
not_provided
0.986080.94808HOM Link to ClinVar
138926142629BenignDiamond-Blackfan_anemia0.994630.97684HOM Link to ClinVar
9288998796BenignUDPglucose-4-epimerase_deficiency
not_specified
..HET Link to ClinVar
296841281738BenignDeficiency_of_hydroxymethylglutaryl-CoA_lyase
UDPglucose-4-epimerase_deficiency
.0.88339HOM Link to ClinVar
684182657772Benignnot_provided..HOM Link to ClinVar
9260298510BenignDeficiency_of_hydroxymethylglutaryl-CoA_lyase
not_specified
0.90420.88738HOM Link to ClinVar
673763657752Benignnot_provided..HET Link to ClinVar
255488249839Benignnot_specified0.905280.88778HOM Link to ClinVar
683937657778Benignnot_provided..HET Link to ClinVar
683932657780Benignnot_provided..HET Link to ClinVar
69115730BenignFU1/FU2_POLYMORPHISM
Fucosidosis
not_provided
0.279120.21126HET Link to ClinVar
683990657784Benignnot_provided..HET Link to ClinVar
683986657770Benignnot_provided..HET Link to ClinVar
683925657786Benignnot_provided..HET Link to ClinVar
296993280237BenignFamilial_hypercholesterolemia_1..HOM Link to ClinVar
297006281950BenignFamilial_hypercholesterolemia_1.0.90336HOM Link to ClinVar
297011282036BenignFamilial_hypercholesterolemia_1.0.57109HOM Link to ClinVar
297021280262BenignFamilial_hypercholesterolemia_1.0.56929HOM Link to ClinVar
680991657812Benignnot_provided..HET Link to ClinVar
669827657800Benignnot_provided..HET Link to ClinVar
669828657807Benignnot_provided..HET Link to ClinVar
95963101859BenignEichsfeld_type_congenital_muscular_dystrophy
not_specified
SEPN1-Related_Disorders
not_provided
0.814430.84185HET Link to ClinVar
680776657744Benignnot_provided..HET Link to ClinVar
669830657813Benignnot_provided..HET Link to ClinVar
261271249869Benignnot_specified
not_provided
0.786130.74701HET Link to ClinVar
95956101852BenignEichsfeld_type_congenital_muscular_dystrophy
not_specified
SEPN1-Related_Disorders
not_provided
0.813250.79193HET Link to ClinVar
669832657821Benignnot_provided..HET Link to ClinVar
261274249873Benignnot_specified
not_provided
0.794430.69768HET Link to ClinVar
669834657829Benignnot_provided..HET Link to ClinVar
669835657815Benignnot_provided..HET Link to ClinVar
95959101855BenignEichsfeld_type_congenital_muscular_dystrophy
not_specified
SEPN1-Related_Disorders
not_provided
0.774730.69748HET Link to ClinVar
669836657819Benignnot_provided..HET Link to ClinVar
297050282081BenignSEPN1-Related_Disorders.0.76298HET Link to ClinVar
297053280308BenignSEPN1-Related_Disorders.0.86222HET Link to ClinVar
297061280694Uncertain_significanceSEPN1-Related_Disorders..HET Link to ClinVar
297106282168Likely_benignRetinitis_Pigmentosa,_Recessive.0.09964HET Link to ClinVar
635265623097drug_responsebuprenorphine_response_-_Efficacy.0.45907HET Link to ClinVar
297151282106BenignCharcot-Marie-Tooth_disease,_dominant_intermediate_C
not_specified
Charcot-Marie-Tooth,_Intermediate
not_provided
0.098190.08746HET Link to ClinVar
670891657853Benignnot_provided..HET Link to ClinVar
670337657748Benignnot_provided..HOM Link to ClinVar
670336657861Benignnot_provided..HOM Link to ClinVar
670889657834Benignnot_provided..HET Link to ClinVar
670888657841Benignnot_provided..HET Link to ClinVar
670335657749Benignnot_provided..HOM Link to ClinVar
297163280382Benignnot_specified
Charcot-Marie-Tooth,_Intermediate
0.09760.08566HET Link to ClinVar
297175280750BenignCharcot-Marie-Tooth,_Intermediate
not_provided
.0.0603HET Link to ClinVar
297196280761BenignErythrokeratodermia_variabilis_et_progressiva_1
Nonsyndromic_Hearing_Loss,_Dominant
.0.40395HET Link to ClinVar
297204282177BenignErythrokeratodermia_variabilis_et_progressiva_1
Nonsyndromic_Hearing_Loss,_Dominant
.0.25819HET Link to ClinVar
297210282201BenignErythrokeratodermia_variabilis_et_progressiva_1
Nonsyndromic_Hearing_Loss,_Dominant
.0.21286HET Link to ClinVar
256790249885Benignnot_specified0.564810.59245HOM Link to ClinVar
256789249886Benignnot_specified0.315610.24641HET Link to ClinVar
434837427809Benign/Likely_benignnot_specified
not_provided
0.002990.0012HET Link to ClinVar
684263656850Benignnot_provided..HET Link to ClinVar
684262656853Benignnot_provided..HOM Link to ClinVar
297230280445BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.66733HET Link to ClinVar
297233280826BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.61402HET Link to ClinVar
297234282406BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.66074HET Link to ClinVar
297240282423BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.66114HET Link to ClinVar
668044657872Benignnot_provided..HET Link to ClinVar
670733657899Benignnot_provided..HET Link to ClinVar
668040657789Benignnot_provided..HET Link to ClinVar
684006657790Benignnot_provided..HET Link to ClinVar
684001657791Benignnot_provided..HET Link to ClinVar
297250280858BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.83267HET Link to ClinVar
140502150180not_providednot_provided.0.21805HET Link to ClinVar
140525150203not_providednot_provided.0.22264HET Link to ClinVar
140535150213Benignnot_specified
not_provided
0.985870.99321HOM Link to ClinVar
140538150216not_providednot_provided.0.91354HOM Link to ClinVar
258399249913BenignMultiple_Epiphyseal_Dysplasia,_Dominant
not_specified
Stickler_Syndrome,_Recessive
0.303350.39736HET Link to ClinVar
683426657914Benignnot_provided..HET Link to ClinVar
258392249920BenignMultiple_Epiphyseal_Dysplasia,_Dominant
not_specified
Stickler_Syndrome,_Recessive
.0.17812HET Link to ClinVar
258387249924Benignnot_specified.0.40156HET Link to ClinVar
258385249927Benignnot_specified.0.3744HET Link to ClinVar
668734657886Benignnot_provided..HET Link to ClinVar
4510454271BenignDFNA_2_Nonsyndromic_Hearing_Loss
not_specified
0.675750.56749HOM Link to ClinVar
4510554272BenignDFNA_2_Nonsyndromic_Hearing_Loss
not_specified
0.651180.5633HOM Link to ClinVar
402571389436Benignnot_specified0.40480.33307HET Link to ClinVar
402941389395Benignnot_specified0.988980.96306HOM Link to ClinVar
402943389444Benignnot_specified0.668730.73443HET Link to ClinVar
402944389407Benignnot_specified.0.12121HET Link to ClinVar
402945389445Benignnot_specified0.993440.97724HOM Link to ClinVar
402946389449Benignnot_specified0.986810.94928HOM Link to ClinVar
402947389454Benignnot_specified0.986850.94928HOM Link to ClinVar
297335280544BenignRenal_Hypomagnesemia,_Recessive.0.60683HOM Link to ClinVar
194558191721Likely_benignnot_specified.1HOM Link to ClinVar
674901657889Benignnot_provided..HOM Link to ClinVar
667664657900Benignnot_provided..HOM Link to ClinVar
667663657995Benignnot_provided..HOM Link to ClinVar
667661657824Benignnot_provided..HOM Link to ClinVar
674899657940Benignnot_provided..HOM Link to ClinVar
674898657944Benignnot_provided..HOM Link to ClinVar
297374282346BenignDystonia
Glucose_transporter_type_1_deficiency_syndrome
.0.38339HET Link to ClinVar
95414101313BenignDystonia
Glucose_transporter_type_1_deficiency_syndrome
History_of_neurodevelopmental_disorder
GLUT1_deficiency_syndrome_1
not_specified
.0.11961HET Link to ClinVar
95411101310BenignDystonia
Glucose_transporter_type_1_deficiency_syndrome
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.190220.14137HET Link to ClinVar
670109657948Benignnot_provided..HET Link to ClinVar
668836657832Benignnot_provided..HET Link to ClinVar
297395282361BenignDystonia
Glucose_transporter_type_1_deficiency_syndrome
.0.14217HET Link to ClinVar
259760249934Benignnot_specified0.30320.20967HET Link to ClinVar
260613249939BenignSeizures
not_specified
not_provided
0.319110.19808HET Link to ClinVar
260619249945Benignnot_specified0.320030.19888HET Link to ClinVar
260620249946Benignnot_specified.0.21186HET Link to ClinVar
260623249949BenignSeizures
not_specified
not_provided
0.318350.19629HET Link to ClinVar
260626249952BenignSeizures
not_specified
not_provided
0.330960.22105HET Link to ClinVar
262909249955Benignnot_specified0.881290.80911HOM Link to ClinVar
262910249956Benignnot_specified0.668380.51877HET Link to ClinVar
415448391273BenignGorlin_syndrome0.044040.0629HET Link to ClinVar
239554238304Benignnot_provided0.003580.0006HET Link to ClinVar
261222249960Benignnot_specified0.658860.79113HET Link to ClinVar
95947101843BenignLeukoencephalopathy_with_vanishing_white_matter
not_specified
not_provided
0.258760.29653HET Link to ClinVar
297453281149BenignLeukoencephalopathy_with_vanishing_white_matter.0.48063HET Link to ClinVar
439920432989Benignnot_specified0.924460.9353HET Link to ClinVar
257529249965Benignnot_specified0.925510.9371HET Link to ClinVar
297505280720Likely_benignDisorders_of_Intracellular_Cobalamin_Metabolism.0.11841HOM Link to ClinVar
167524177974BenignMuscle_eye_brain_disease
not_specified
0.983840.94249HOM Link to ClinVar
130004135450Benignnot_specified
not_provided
0.009010.0028HET Link to ClinVar
672421763BenignFAAH_POLYMORPHISM0.233310.26158HET Link to ClinVar
297544281229BenignPrimary_Microcephaly,_Recessive..HET Link to ClinVar
9409599995BenignPrimary_autosomal_recessive_microcephaly_7
not_specified
Primary_Microcephaly,_Recessive
not_provided
0.497870.39337HET Link to ClinVar
9409499994Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_7
not_specified
Primary_Microcephaly,_Recessive
not_provided
0.242060.17832HET Link to ClinVar
670142657961Benignnot_provided..HOM Link to ClinVar
160057168006Benignnot_specified
not_provided
.0.39437HET Link to ClinVar
673949657936Benignnot_provided..HET Link to ClinVar
670465657937Benignnot_provided..HET Link to ClinVar
670581657855Benignnot_provided..HET Link to ClinVar
2135434206BenignPrimary_autosomal_recessive_microcephaly_7
not_specified
Primary_Microcephaly,_Recessive
not_provided
0.503450.60643HET Link to ClinVar
670580657963Benignnot_provided..HET Link to ClinVar
670141657859Benignnot_provided..HET Link to ClinVar
193357190521Benignnot_specified0.350950.27855HOM Link to ClinVar
559025549525Benignnot_provided0.221980.40216HET Link to ClinVar
559026549526Benignnot_provided0.08720.19149HET Link to ClinVar
683619657968Benignnot_provided..HET Link to ClinVar
680257657867Benignnot_provided..HET Link to ClinVar
9242939074BenignCarnitine_palmitoyltransferase_II_deficiency
not_specified
not_provided
0.484130.41314HET Link to ClinVar
460427448240Conflicting_interpretations_of_pathogenicitynot_provided0.002350.0004HET Link to ClinVar
368876353105BenignCarnitine_palmitoyltransferase_II_deficiency.0.22824HET Link to ClinVar
699622035risk_factorMyocardial_infarction_10.295290.14437HET Link to ClinVar
735250743758Benignnot_provided..HET Link to ClinVar
297612281322BenignDesmosterolosis.0.9998HOM Link to ClinVar
297621282895Likely_benignDesmosterolosis.0.01018HET Link to ClinVar
297623282901BenignDesmosterolosis.0.98323HOM Link to ClinVar
297654281388BenignDesmosterolosis0.665060.6276HOM Link to ClinVar
297656282617BenignDesmosterolosis0.996840.98862HOM Link to ClinVar
297673280880BenignBartter_syndrome.0.59405HOM Link to ClinVar
297674281402BenignBartter_syndrome.0.59505HOM Link to ClinVar
4655355718Benign/Likely_benignBartter_syndrome
Bartter_syndrome_type_4
not_specified
0.158610.11601HOM Link to ClinVar
297681282935BenignBartter_syndrome.0.36242HOM Link to ClinVar
368877353106BenignBartter_syndrome.0.42991HOM Link to ClinVar
440703434132BenignFamilial_hypercholesterolemia_1.0.60144HOM Link to ClinVar
3666645327Benign/Likely_benignFamilial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
.0.09385HET Link to ClinVar
3666945330Benign/Likely_benignFamilial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified
.0.09125HET Link to ClinVar
262904249984Benign/Likely_benignFamilial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified
0.936990.90855HOM Link to ClinVar
440710434139BenignFamilial_hypercholesterolemia_1.0.09345HET Link to ClinVar
265925260601BenignFamilial_hypercholesterolemia_1.0.54932HET Link to ClinVar
265928260605Uncertain_significanceFamilial_hypercholesterolemia_1..HET Link to ClinVar
265929260604BenignFamilial_hypercholesterolemia_1.0.13858HET Link to ClinVar
262908249988Benign/Likely_benignFamilial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified
0.431150.46625HOM Link to ClinVar
262899249989Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified
0.994540.98183HOM Link to ClinVar
265943260619BenignFamilial_hypercholesterolemia_1.0.86921HET Link to ClinVar
201126196755Benign/Likely_benignFamilial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified
0.85440.86921HET Link to ClinVar
201124196757Benign/Likely_benignFamilial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified
0.854440.86901HET Link to ClinVar
3667045331Benign/Likely_benignFamilial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
Familial_hypercholesterolemia_3
not_specified
0.943280.89896HOM Link to ClinVar
770847696804Benignnot_provided..HET Link to ClinVar
1703932078BenignCOMPLEMENT_COMPONENT_8,_ALPHA_SUBUNIT,_A/B_POLYMORPHISM
not_specified
0.368380.34365HET Link to ClinVar
297752282697BenignCorneal_Dystrophy,_Dominant/Recessive.0.25699HET Link to ClinVar
297754282703Likely_benignCorneal_Dystrophy,_Dominant/Recessive.0.10463HET Link to ClinVar
297756281504BenignCorneal_Dystrophy,_Dominant/Recessive.0.41294HET Link to ClinVar
297763282981Likely_benignCorneal_Dystrophy,_Dominant/Recessive.0.05391HET Link to ClinVar
297769280967Likely_benignCorneal_Dystrophy,_Dominant/Recessive0.097210.10403HET Link to ClinVar
297778282741Likely_benignCorneal_Dystrophy,_Dominant/Recessive.0.10403HET Link to ClinVar
770850777132Benignnot_provided..HET Link to ClinVar
585796576551Likely_benignnot_provided0.00032.HET Link to ClinVar
95531101430Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.751430.83047HET Link to ClinVar
297858280998BenignCongenital_disorder_of_glycosylation.0.6847HET Link to ClinVar
676174657878Benignnot_provided..HET Link to ClinVar
297871282807Benign/Likely_benignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1t
not_specified
not_provided
0.130430.12979HET Link to ClinVar
676177657978Benignnot_provided..HET Link to ClinVar
297874283126Benign/Likely_benignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1t
not_specified
not_provided
0.24280.24141HET Link to ClinVar
558803549534Benignnot_provided0.414110.5002HET Link to ClinVar
676178657879Benignnot_provided..HET Link to ClinVar
474681448350BenignParkinson_disease_19a,_juvenile-onset0.021450.01138HET Link to ClinVar
297982282919BenignLeptin_receptor_deficiency
Monogenic_Non-Syndromic_Obesity
0.551540.56789HET Link to ClinVar
487357480430BenignLeptin_receptor_deficiency0.999911HOM Link to ClinVar
298000282947BenignLeptin_receptor_deficiency
not_specified
Monogenic_Non-Syndromic_Obesity
0.452620.52975HET Link to ClinVar
298008281762BenignLeptin_receptor_deficiency
Monogenic_Non-Syndromic_Obesity
..HET Link to ClinVar
298009281763Uncertain_significanceLeptin_receptor_deficiency
Monogenic_Non-Syndromic_Obesity
.0.0016HET Link to ClinVar
298027281783Likely_benignCystathioninuria.0.03235HET Link to ClinVar
676188658055Benignnot_provided..HOM Link to ClinVar
254691250014Benignnot_specified0.250610.18291HOM Link to ClinVar
226050227862BenignMedium-chain_acyl-coenzyme_A_dehydrogenase_deficiency..HOM Link to ClinVar
9225998170Benign/Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_deficiency
not_specified
0.274040.23123HOM Link to ClinVar
676189658062Benignnot_provided..HOM Link to ClinVar
254689250015Benignnot_specified0.273660.23103HOM Link to ClinVar
254690250016Benignnot_specified0.286080.1901HOM Link to ClinVar
9225498165Benign/Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_deficiency
not_specified
0.233350.17432HOM Link to ClinVar
298078281831Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_deficiency.0.09824HOM Link to ClinVar
298081281218BenignMedium-chain_acyl-coenzyme_A_dehydrogenase_deficiency.0.69169HOM Link to ClinVar
402356389423Benignnot_specified0.995530.97883HOM Link to ClinVar
402357389425Benignnot_specified0.138260.1254HET Link to ClinVar
402358389472Benignnot_specified0.746190.6853HET Link to ClinVar
402359390495Benignnot_specified..HET Link to ClinVar
671176658068Benignnot_provided..HOM Link to ClinVar
683664658080Benignnot_provided..HOM Link to ClinVar
298100281853Uncertain_significanceHypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
..HET Link to ClinVar
225991227744drug_responselatanoprost_response_-_Efficacy.0.78235HOM Link to ClinVar
722691732625Benignnot_provided..HET Link to ClinVar
298125281871BenignGlomuvenous_malformations.0.61601HOM Link to ClinVar
298167281285BenignSevere_congenital_neutropenia.0.15815HET Link to ClinVar
298175283194BenignSevere_congenital_neutropenia.0.80831HOM Link to ClinVar
259698250019Benign/Likely_benignSevere_congenital_neutropenia
Severe_congenital_neutropenia_2,_autosomal_dominant
not_specified
0.013570.00539HET Link to ClinVar
211078206837BenignSevere_congenital_neutropenia
not_specified
0.888340.91893HOM Link to ClinVar
402836389473Benignnot_specified0.851970.92033HOM Link to ClinVar
402838389434Benignnot_specified0.921580.94908HOM Link to ClinVar
402839389440Benignnot_specified0.921580.95028HOM Link to ClinVar
298213283380BenignDiamond-Blackfan_anemia0.6770.69189HOM Link to ClinVar
136235139938BenignMacular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided
0.889380.76997HOM Link to ClinVar
678762658099Benignnot_provided..HET Link to ClinVar
99396105285Benign/Likely_benignMacular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided
0.219670.20068HET Link to ClinVar
99390105279Conflicting_interpretations_of_pathogenicityMacular_degeneration
Stargardt_disease_1
Stargardt_disease
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided
0.044560.02077HET Link to ClinVar
99389105278not_providednot_provided.0.69149HET Link to ClinVar
680456658070Benignnot_provided..HOM Link to ClinVar
678761657925Benignnot_provided..HET Link to ClinVar
680455657991Benignnot_provided..HET Link to ClinVar
255923250031BenignMacular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
..HET Link to ClinVar
678759658078Benignnot_provided..HET Link to ClinVar
678756657938Benignnot_provided..HOM Link to ClinVar
680452658079Benignnot_provided..HOM Link to ClinVar
99079104968not_providednot_provided.0.3736HET Link to ClinVar
193579190742BenignMacular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
..HOM Link to ClinVar
99037104927BenignMacular_degeneration
not_specified
Cone-Rod_Dystrophy,_Recessive
Stargardt_Disease,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided
0.481440.51478HOM Link to ClinVar
680451658087Benignnot_provided..HOM Link to ClinVar
166618177452Benignnot_specified.0.98702HOM Link to ClinVar
258821250040Benignnot_specified
not_provided
0.392330.27995HET Link to ClinVar
298277283459Likely_benignDihydropyrimidine_dehydrogenase_deficiency.0.10683HET Link to ClinVar
100080105957Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency
not_specified
not_provided
0.046470.04393HET Link to ClinVar
100086105963not_providednot_provided.0.22664HET Link to ClinVar
100092105969Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency
not_specified
not_provided
0.192960.1849HET Link to ClinVar
100103105980Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency
not_specified
not_provided
0.104580.0637HET Link to ClinVar
100105105982not_providednot_provided.0.10923HET Link to ClinVar
100123106000BenignDihydropyrimidine_dehydrogenase_deficiency
not_provided
0.765170.73982HOM Link to ClinVar
676091658089Benignnot_provided..HET Link to ClinVar
256750250042Benignnot_specified0.196230.22724HET Link to ClinVar
682710657959Benignnot_provided..HET Link to ClinVar
676092658003Benignnot_provided..HET Link to ClinVar
676094658006Benignnot_provided..HET Link to ClinVar
677943657960Benignnot_provided..HET Link to ClinVar
679283658096Benignnot_provided..HET Link to ClinVar
198432195593BenignGlycogen_storage_disease_type_III
not_specified
not_provided
0.721410.76258HET Link to ClinVar
256751250046Benignnot_specified
not_provided
0.731420.74341HET Link to ClinVar
680037658117Benignnot_provided..HET Link to ClinVar
256730250058BenignGlycogen_storage_disease_type_III
not_specified
not_provided
0.689760.68111HET Link to ClinVar
256734250062Benign/Likely_benignGlycogen_storage_disease_type_III
not_specified
not_provided
0.136130.11062HET Link to ClinVar
256735250063Benignnot_specified
not_provided
0.69120.68151HET Link to ClinVar
682727658121Benignnot_provided..HET Link to ClinVar
680038658125Benignnot_provided..HET Link to ClinVar
680039658124Benignnot_provided..HET Link to ClinVar
291359283552BenignGlycogen_storage_disease_type_III.0.59045HET Link to ClinVar
291395275557BenignMaple_syrup_urine_disease.0.76677HOM Link to ClinVar
291396275589Uncertain_significanceMaple_syrup_urine_disease..HET Link to ClinVar
291404275613BenignMaple_syrup_urine_disease.0.80072HOM Link to ClinVar
291407275571BenignMaple_syrup_urine_disease.0.76957HOM Link to ClinVar
291424275625BenignMaple_syrup_urine_disease.0.76957HOM Link to ClinVar
128885134332BenignMaple_syrup_urine_disease
not_specified
0.913770.89177HOM Link to ClinVar
681221656866Benignnot_provided..HOM Link to ClinVar
681220656835Benignnot_provided..HOM Link to ClinVar
681219656873Benignnot_provided..HOM Link to ClinVar
776339695917Benignnot_provided..HET Link to ClinVar
682965656814Benignnot_provided..HET Link to ClinVar
291477275622BenignMarshall_syndrome
Fibrochondrogenesis_1
Stickler_Syndrome,_Dominant
.0.22444HET Link to ClinVar
681209656841Benignnot_provided..HET Link to ClinVar
681208656816Benignnot_provided..HET Link to ClinVar
681207656844Benignnot_provided..HET Link to ClinVar
258470249270BenignMarshall_syndrome
Fibrochondrogenesis_1
not_specified
Stickler_Syndrome,_Dominant
0.580150.48463HET Link to ClinVar
258467249273Benignnot_specified0.135420.17352HET Link to ClinVar
1713732176BenignMarshall_syndrome
Lumbar_disc_herniation,_susceptibility_to
Fibrochondrogenesis_1
not_specified
Stickler_Syndrome,_Dominant
0.794160.78295HET Link to ClinVar
258466249274BenignMarshall_syndrome
Fibrochondrogenesis_1
not_specified
Stickler_Syndrome,_Dominant
0.723870.6226HET Link to ClinVar
258465249275Benignnot_specified.0.17372HET Link to ClinVar
681203656837Benignnot_provided..HET Link to ClinVar
258461249279BenignMarshall_syndrome
Fibrochondrogenesis_1
not_specified
Stickler_Syndrome,_Dominant
0.591550.49661HET Link to ClinVar
516177497941Benignnot_specified..HOM Link to ClinVar
681201656854Benignnot_provided..HOM Link to ClinVar
681200656865Benignnot_provided..HOM Link to ClinVar
681199656867Benignnot_provided..HOM Link to ClinVar
681198656895Benignnot_provided..HOM Link to ClinVar
674756656897Benignnot_provided..HOM Link to ClinVar
258445249292Benignnot_specified0.691250.62919HOM Link to ClinVar
674755656882Benignnot_provided..HOM Link to ClinVar
674754656884Benignnot_provided..HOM Link to ClinVar
258443249294Benignnot_specified
not_provided
0.953640.92392HOM Link to ClinVar
674752656887Benignnot_provided..HOM Link to ClinVar
681197656893Benignnot_provided..HOM Link to ClinVar
674751656896Benignnot_provided..HOM Link to ClinVar
674750656903Benignnot_provided..HOM Link to ClinVar
674749656905Benignnot_provided..HOM Link to ClinVar
218828215177Benignnot_specified..HOM Link to ClinVar
258450249303Benignnot_specified
not_provided
0.59180.57628HOM Link to ClinVar
674747656914Benignnot_provided..HOM Link to ClinVar
681360656944Benignnot_provided..HOM Link to ClinVar
681782656975Benignnot_provided..HET Link to ClinVar
683318656976Benignnot_provided..HOM Link to ClinVar
226649228257Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
not_provided
..HOM Link to ClinVar
681784656980Benignnot_provided..HET Link to ClinVar
291711276041Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.36821HET Link to ClinVar
291714276043Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.20707HET Link to ClinVar
259744249359BenignAchromatopsia
not_specified
0.449040.37859HET Link to ClinVar
677169656955Benignnot_provided..HET Link to ClinVar
683550656981Benignnot_provided..HET Link to ClinVar
682043656919Benignnot_provided..HOM Link to ClinVar
683889656983Benignnot_provided..HET Link to ClinVar
291827276274Likely_benignHyperinsulinism,_Dominant.0.24701HET Link to ClinVar
291831276277Likely_benignHyperinsulinism,_Dominant.0.67552HOM Link to ClinVar
130315135762Benign/Likely_benignnot_specified
Hyperinsulinism,_Dominant
0.597210.67672HOM Link to ClinVar
260443249366Benignnot_specified..HOM Link to ClinVar
769239777012Benignnot_provided..HOM Link to ClinVar
891023949risk_factorDiabetes_mellitus,_insulin-dependent,_susceptibility_to.0.74701HOM Link to ClinVar
157718167566BenignHistory_of_neurodevelopmental_disorder
Spastic_paraplegia_47,_autosomal_recessive
not_specified
0.318640.377HET Link to ClinVar
380767364302Benignnot_specified.0.32947HET Link to ClinVar
291946275943Likely_benignNoonan_syndrome..HET Link to ClinVar
291967276416Likely_benignNoonan_syndrome.0.15096HET Link to ClinVar
561821552484Benignnot_provided.0.8764HET Link to ClinVar
256640249367BenignCongenital_hypothyroidism
Secondary_hypothyroidism
not_specified
0.970660.98363HOM Link to ClinVar
291993276307BenignCongenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers0.365570.2474HET Link to ClinVar
667672656988Benignnot_provided..HET Link to ClinVar
292005276198Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
0.14210.11502HOM Link to ClinVar
292017276462Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.06669HET Link to ClinVar
292018276201Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.06669HET Link to ClinVar
292020276202Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.73942HOM Link to ClinVar
292025276336Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.73942HOM Link to ClinVar
292027276337Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.0653HET Link to ClinVar
292052276395Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.44209HOM Link to ClinVar
292054276234Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.07308HET Link to ClinVar
292057276235Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.10244HET Link to ClinVar
292066276023Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.07328HET Link to ClinVar
292067276398Likely_benignNeural_tube_defect
Caudal_dysgenesis_syndrome
.0.33766HET Link to ClinVar
292075276248Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.4401HOM Link to ClinVar
292076276408Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.17552HOM Link to ClinVar
292084276527Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.17532HOM Link to ClinVar
292088276533Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.42332HOM Link to ClinVar
292095276037Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.4375HOM Link to ClinVar
292097276256Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.42312HOM Link to ClinVar
292101276450Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.42312HOM Link to ClinVar
292106276480Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.17572HOM Link to ClinVar
292107276262Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.07228HET Link to ClinVar
292112276263Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.10224HET Link to ClinVar
292113276264Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
..HOM Link to ClinVar
292118276578Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
..HET Link to ClinVar
292120276271Benign/Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.71785HOM Link to ClinVar
292122276272Benign/Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.70088HOM Link to ClinVar
292124276056Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
.0.10363HET Link to ClinVar
4415753325Benign/Likely_benignNeural_tube_defect
Catecholaminergic_polymorphic_ventricular_tachycardia
Caudal_dysgenesis_syndrome
Ventricular_tachycardia,_catecholaminergic_polymorphic,_2
not_specified
Cardiovascular_phenotype
0.383790.42572HOM Link to ClinVar
672186656936Benignnot_provided..HET Link to ClinVar
683295656990Benignnot_provided..HET Link to ClinVar
683294656992Benignnot_provided..HET Link to ClinVar
683293656993Benignnot_provided..HET Link to ClinVar
257653249368Benignnot_specified0.348620.42871HET Link to ClinVar
257652249369BenignVentricular_tachycardia,_catecholaminergic_polymorphic,_2
not_specified
.0.64277HET Link to ClinVar
672065656948Benignnot_provided..HET Link to ClinVar
671742657041Benignnot_provided..HET Link to ClinVar
683292657044Benignnot_provided..HET Link to ClinVar
4416353331BenignCatecholaminergic_polymorphic_ventricular_tachycardia
Ventricular_tachycardia,_catecholaminergic_polymorphic,_2
not_specified
0.787170.64357HOM Link to ClinVar
671741656994Benignnot_provided..HOM Link to ClinVar
672064657011Benignnot_provided..HOM Link to ClinVar
678455656996Benignnot_provided..HOM Link to ClinVar
683291657015Benignnot_provided..HOM Link to ClinVar
672063657016Benignnot_provided..HOM Link to ClinVar
292299276862BenignPhosphoglycerate_dehydrogenase_deficiency.0.69828HET Link to ClinVar
292300276166BenignPhosphoglycerate_dehydrogenase_deficiency.0.81749HET Link to ClinVar
292306276179Likely_benignPhosphoglycerate_dehydrogenase_deficiency0.004970.01877HET Link to ClinVar
292321276452BenignPhosphoglycerate_dehydrogenase_deficiency
not_provided
0.692410.72224HET Link to ClinVar
292326276923Uncertain_significancemitochondrial_3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency..HET Link to ClinVar
684188657050Benignnot_provided..HET Link to ClinVar
684183657022Benignnot_provided..HET Link to ClinVar
261702249380BenignHajdu-Cheney_syndrome
not_specified
0.022180.07109HET Link to ClinVar
769527696066Likely_benignnot_provided..HET Link to ClinVar
769243696065Benignnot_provided..HET Link to ClinVar
403294390579Benignnot_specified..HET Link to ClinVar
767694776998Benignnot_provided..HET Link to ClinVar
292441276310Likely_benignFamilial_atrial_fibrillation.0.06749HET Link to ClinVar
292456276317Likely_benignFamilial_atrial_fibrillation.0.1883HET Link to ClinVar
368828353057Likely_benignFamilial_atrial_fibrillation.0.97484HOM Link to ClinVar
368829353058Likely_benignFamilial_atrial_fibrillation.0.1883HET Link to ClinVar
680801657024Benignnot_provided..HET Link to ClinVar
680803657029Benignnot_provided..HET Link to ClinVar
680805657075Benignnot_provided..HET Link to ClinVar
676428657069Benignnot_provided..HET Link to ClinVar
381175364442Benignnot_specified0.040550.04633HET Link to ClinVar
680806657030Benignnot_provided..HET Link to ClinVar
676429657083Benignnot_provided..HET Link to ClinVar
261076249390BenignEctopia_lentis
Ectopia_lentis_et_pupillae
not_specified
0.906690.8145HOM Link to ClinVar
261077249391BenignEctopia_lentis
Ectopia_lentis_et_pupillae
not_specified
0.867570.8784HOM Link to ClinVar
517011498023Benignnot_specified0.976770.92153HOM Link to ClinVar
292600276632BenignBare_lymphocyte_syndrome_2.0.628HOM Link to ClinVar
292605276401BenignBare_lymphocyte_syndrome_2.0.76438HOM Link to ClinVar
292612277245Benign/Likely_benignBare_lymphocyte_syndrome_2
not_specified
0.118750.0635HOM Link to ClinVar
403373389326Benignnot_specified0.993350.97804HOM Link to ClinVar
402868389322Benignnot_specified0.030660.01298HET Link to ClinVar
292625277165BenignNemaline_myopathy
Congenital_fiber-type_disproportion
.0.32149HET Link to ClinVar
292652277319Uncertain_significanceNemaline_myopathy
Congenital_fiber-type_disproportion
.0.0002HET Link to ClinVar
292666277341BenignNemaline_myopathy
Congenital_fiber-type_disproportion
.0.32009HET Link to ClinVar
292677277239BenignNemaline_myopathy
Congenital_fiber-type_disproportion
..HET Link to ClinVar
292682276481BenignNemaline_myopathy
Congenital_fiber-type_disproportion
.0.32288HET Link to ClinVar
262627249393Benignnot_specified
not_provided
0.607670.73223HET Link to ClinVar
259917249399Benign/Likely_benignSevere_congenital_neutropenia
not_specified
0.11360.07528HET Link to ClinVar
1466029699associationInterleukin_6,_serum_level_of,_quantitative_trait_locus
Soluble_interleukin-6_receptor,_serum_level_of,_quantitative_trait_locus
0.375620.29313HOM Link to ClinVar
292713277338Uncertain_significanceSymmetrical_dyschromatosis_of_extremities..HOM Link to ClinVar
292717276509BenignSymmetrical_dyschromatosis_of_extremities.0.59804HOM Link to ClinVar
292721276511BenignSymmetrical_dyschromatosis_of_extremities.0.19469HET Link to ClinVar
292729277418BenignSymmetrical_dyschromatosis_of_extremities.0.59784HOM Link to ClinVar
292734276770BenignSymmetrical_dyschromatosis_of_extremities.0.39497HOM Link to ClinVar
292740277437BenignSymmetrical_dyschromatosis_of_extremities.0.39617HOM Link to ClinVar
257475249407BenignSymmetrical_dyschromatosis_of_extremities
not_specified
0.4630.38878HOM Link to ClinVar
195112192273BenignSymmetrical_dyschromatosis_of_extremities
not_specified
0.695610.6226HOM Link to ClinVar
500335491759Benignnot_specified0.998760.99621HOM Link to ClinVar
257476249409BenignSymmetrical_dyschromatosis_of_extremities
not_specified
0.999160.99701HOM Link to ClinVar
403001389335Benignnot_specified.0.53534. Link to ClinVar
403002389312Benignnot_specified0.761570.77915HET Link to ClinVar
256871249411Benignnot_specified
not_provided
0.984230.9409HOM Link to ClinVar
181519178910Benignnot_specified
not_provided
0.877190.77975HOM Link to ClinVar
561495552490Benignnot_provided.0.85024HOM Link to ClinVar
227047228267Benignnot_specified
not_provided
0.877460.77995HOM Link to ClinVar
561403552497Benignnot_provided.0.35623HOM Link to ClinVar
674310655043Benignnot_provided..HOM Link to ClinVar
683622657048Benignnot_provided..HET Link to ClinVar
668922657087Benignnot_provided..HET Link to ClinVar
683613657090Benignnot_provided..HET Link to ClinVar
672751657094Benignnot_provided..HET Link to ClinVar
672752657095Benignnot_provided..HET Link to ClinVar
672778657102Benignnot_provided..HET Link to ClinVar
672779657096Benignnot_provided..HET Link to ClinVar
672780657112Benignnot_provided..HET Link to ClinVar
672781657110Benignnot_provided..HET Link to ClinVar
192190189381BenignHutchinson-Gilford_syndrome
not_specified
0.163010.19768HET Link to ClinVar
668923657104Benignnot_provided..HET Link to ClinVar
672782657111Benignnot_provided..HET Link to ClinVar
683614657115Benignnot_provided..HET Link to ClinVar
672783657051Benignnot_provided..HET Link to ClinVar
4807157235Benign/Likely_benignCardiomyopathy
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
0.009720.00799HET Link to ClinVar
4808857252BenignCardiomyopathy
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
0.109430.19309HET Link to ClinVar
683061657105Benignnot_provided..HET Link to ClinVar
3647445136Benign/Likely_benignPrimary_dilated_cardiomyopathy
not_specified
not_provided
0.107650.19229HET Link to ClinVar
4803757201BenignCardiomyopathy
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
.0.2492HET Link to ClinVar
672784657120Benignnot_provided..HET Link to ClinVar
6683477731Benignnot_specified
not_provided
0.106370.18231HET Link to ClinVar
683615657114Benignnot_provided..HET Link to ClinVar
683062657123Benignnot_provided..HET Link to ClinVar
6675677653not_providednot_provided.0.1853HET Link to ClinVar
261576249423Benignnot_specified
Cone-Rod_Dystrophy,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided
0.527250.43091HET Link to ClinVar
336218401Benign/Likely_benignRetinitis_pigmentosa_35
not_specified
Cone-Rod_Dystrophy,_Recessive
Retinitis_Pigmentosa,_Recessive
not_provided
0.035410.02177HET Link to ClinVar
667736657124Benignnot_provided..HOM Link to ClinVar
380853364541Benignnot_specified0.667410.63698HOM Link to ClinVar
667767657128Benignnot_provided..HOM Link to ClinVar
667768657107Benignnot_provided..HOM Link to ClinVar
667738657082Benignnot_provided..HET Link to ClinVar
667741657129Benignnot_provided..HOM Link to ClinVar
667743657131Benignnot_provided..HET Link to ClinVar
667763657109Benignnot_provided..HET Link to ClinVar
667764657091Benignnot_provided..HET Link to ClinVar
292891277584Benign/Likely_benignHereditary_insensitivity_to_pain_with_anhidrosis
not_specified
not_provided
0.06250.08926HET Link to ClinVar
138564142267BenignHereditary_insensitivity_to_pain_with_anhidrosis
not_specified
0.572360.33407HET Link to ClinVar
138565142268Benignnot_specified0.064090.1224HET Link to ClinVar
667765657121Benignnot_provided..HOM Link to ClinVar
667766657130Benignnot_provided..HOM Link to ClinVar
670556657097Benignnot_provided..HOM Link to ClinVar
292917277518Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
Spherocytosis,_Recessive
..HET Link to ClinVar
292920276935Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
Spherocytosis,_Recessive
.0.50399HET Link to ClinVar
258958249424Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.538490.50479HET Link to ClinVar
258957249425Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.537350.50619HET Link to ClinVar
292947276686Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
..HET Link to ClinVar
258955249427Conflicting_interpretations_of_pathogenicityElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
.0.49101HET Link to ClinVar
258943249439Conflicting_interpretations_of_pathogenicityElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.273680.24561HET Link to ClinVar
258942249440Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
.0.59405HET Link to ClinVar
258930249450Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.253390.22824HET Link to ClinVar
258929249451Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.998260.99461HOM Link to ClinVar
258926249454Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.309270.42352HET Link to ClinVar
258922249458Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
.0.24361HET Link to ClinVar
293028276726Uncertain_significanceElliptocytosis
Hereditary_pyropoikilocytosis
Spherocytosis,_Recessive
..HET Link to ClinVar
258917249462Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.399910.35423HET Link to ClinVar
258962249465Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.984970.95687HOM Link to ClinVar
258961249466Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.544910.45387HET Link to ClinVar
258959249468Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.984940.95687HOM Link to ClinVar
258916249471Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.991970.96985HOM Link to ClinVar
258920249472Benign/Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
not_specified
Spherocytosis,_Recessive
0.991950.96985HOM Link to ClinVar
293066277611Likely_benignElliptocytosis
Hereditary_pyropoikilocytosis
Spherocytosis,_Recessive
..HET Link to ClinVar
293090276775Likely_benignPendred_syndrome
Seizures,_Sensorineural_Deafness,_Ataxia,_Intellectual_Disability,_and_Electrolyte_Imbalance_Syndrome
Nonsyndromic_Hearing_Loss,_Mixed
.0.48103HOM Link to ClinVar
293091277643BenignPendred_syndrome
Seizures,_Sensorineural_Deafness,_Ataxia,_Intellectual_Disability,_and_Electrolyte_Imbalance_Syndrome
Nonsyndromic_Hearing_Loss,_Mixed
.0.9982HOM Link to ClinVar
293102276778BenignPendred_syndrome
Seizures,_Sensorineural_Deafness,_Ataxia,_Intellectual_Disability,_and_Electrolyte_Imbalance_Syndrome
Nonsyndromic_Hearing_Loss,_Mixed
.0.86282HOM Link to ClinVar
668000657100Benignnot_provided..HOM Link to ClinVar
678200657103Benignnot_provided..HET Link to ClinVar
668017657133Benignnot_provided..HET Link to ClinVar
670739657139Benignnot_provided..HOM Link to ClinVar
166705177497BenignFamilial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
not_specified
..HET Link to ClinVar
668975657142Benignnot_provided..HET Link to ClinVar
197163194324Benignnot_specified0.984910.94249HOM Link to ClinVar
670740657155Benignnot_provided..HOM Link to ClinVar
674717657126Benignnot_provided..HOM Link to ClinVar
678076657135Benignnot_provided..HOM Link to ClinVar
668018657106Benignnot_provided..HOM Link to ClinVar
670755657134Benignnot_provided..HOM Link to ClinVar
670756657116Benignnot_provided..HOM Link to ClinVar
128477133926BenignFamilial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
not_specified
not_provided
.0.20967HOM Link to ClinVar
671340657187Benignnot_provided..HET Link to ClinVar
293147277097Likely_benignFamilial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
.0.20887HOM Link to ClinVar
293160277810Likely_benignFamilial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
.0.21246HOM Link to ClinVar
293162277121Likely_benignFamilial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
.0.21246HOM Link to ClinVar
293175276850BenignFamilial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
..HOM Link to ClinVar
293179277817Likely_benignFamilial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
.0.21286HOM Link to ClinVar
293189277710Likely_benignFamilial_hemiplegic_migraine
Alternating_hemiplegia_of_childhood
.0.21785HOM Link to ClinVar
293196277712BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)0.564150.45228HOM Link to ClinVar
489519934risk_factorRheumatoid_arthritis.0.5615HOM Link to ClinVar
293238277167Likely_benignVariegate_porphyria.0.35923HET Link to ClinVar
293244277833Likely_benignVariegate_porphyria.0.02177HET Link to ClinVar
671138657138Benignnot_provided..HOM Link to ClinVar
129697135143Likely_benignMitochondrial_complex_I_deficiency
not_specified
not_provided
0.078440.04932HET Link to ClinVar
678042657160Benignnot_provided..HOM Link to ClinVar
293292277897Likely_benignApolipoprotein_A-II_deficiency0.113520.10304HET Link to ClinVar
197772194933Benignnot_specified0.353430.33626HET Link to ClinVar
293304277907BenignRoussy-Lévy_syndrome
Charcot-Marie-Tooth_disease,_type_I
Congenital_hypomyelinating_neuropathy_1,_autosomal_recessive
Charcot-Marie-Tooth,_Intermediate
.0.13638HOM Link to ClinVar
683189657140Benignnot_provided..HOM Link to ClinVar
667646657151Benignnot_provided..HOM Link to ClinVar
683188657168Benignnot_provided..HOM Link to ClinVar
1482329862drug_responseLupus_nephritis,_susceptibility_to
Pseudomonas_aeruginosa,_susceptibility_to_chronic_infection_by,_in_cystic_fibrosis
Malaria,_severe,_susceptibility_to
not_specified
trastuzumab_response_-_Efficacy
0.47910.44169HET Link to ClinVar
24268545587Benignnot_provided0.588730.53295HOM Link to ClinVar
801568789872BenignAchromatopsia_7..HET Link to ClinVar
801572789876BenignAchromatopsia_7..HOM Link to ClinVar
259936249489Benignnot_specified0.992350.97045HOM Link to ClinVar
259930249493Benignnot_specified.0.94549HOM Link to ClinVar
259932249495Benignnot_specified.0.99241HOM Link to ClinVar
293388278133BenignSpondyloepimetaphyseal_dysplasia..HOM Link to ClinVar
767724777031Benignnot_provided..HET Link to ClinVar
252576246866Benignnot_specified..HET Link to ClinVar
293481277084BenignAdrenocorticotropic_hormone_deficiency.0.48942HET Link to ClinVar
293497277351BenignAdrenocorticotropic_hormone_deficiency..HET Link to ClinVar
293520278187BenignThiamine-responsive_megaloblastic_anemia
Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness
.0.9976HOM Link to ClinVar
683854657157Benignnot_provided..HET Link to ClinVar
683850657162Benignnot_provided..HET Link to ClinVar
293541278256Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
.0.91234HOM Link to ClinVar
293546277166Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
.0.27556HET Link to ClinVar
293554278264Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
.0.47744HET Link to ClinVar
255211249500Benign/Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified
0.932570.9363HOM Link to ClinVar
255210249501Conflicting_interpretations_of_pathogenicityThrombophilia_due_to_activated_protein_C_resistance
not_specified
not_provided
0.335060.30871HET Link to ClinVar
255208249503Benign/Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified
0.295820.18211HET Link to ClinVar
255202249507Benign/Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified
0.273660.26278HET Link to ClinVar
255201249508Benign/Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified
0.273770.26278HET Link to ClinVar
255200249509Conflicting_interpretations_of_pathogenicityThrombophilia_due_to_activated_protein_C_resistance
not_specified
not_provided
0.276840.26677HET Link to ClinVar
255196249512Benign/Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified
0.273650.26278HET Link to ClinVar
255194249514Benign/Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified
0.273680.26278HET Link to ClinVar
255193249515Benign/Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified
0.273610.26278HET Link to ClinVar
226007227743drug_responsehormonal_contraceptives_for_systemic_use_response_-_Toxicity/ADR
not_provided
0.97850.99401HOM Link to ClinVar
255197249526Benign/Likely_benignBudd-Chiari_syndrome
Venous_thrombosis
Factor_V_deficiency
Thrombophilia_due_to_activated_protein_C_resistance
not_specified
0.313540.22644HET Link to ClinVar
1352728566BenignSELECTIN_P_POLYMORPHISM0.082080.03594HET Link to ClinVar
262629249533BenignGeroderma_osteodysplastica
not_specified
.0.59265HET Link to ClinVar
260074249539Benignnot_specified0.504850.53854HET Link to ClinVar
260076249541BenignTrimethylaminuria
not_specified
.0.19888HET Link to ClinVar
1630531344Benign/Likely_benignTrimethylaminuria
not_specified
0.080520.09764HET Link to ClinVar
767726696269Benignnot_provided..HET Link to ClinVar
293709277613Benign/Likely_benignGlaucoma
Primary_open_angle_glaucoma
not_specified
.0.01218HET Link to ClinVar
595495586557Benignnot_specified0.87470.92412HET Link to ClinVar
683703657200Benignnot_provided..HET Link to ClinVar
224486226216BenignSteroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant
.0.90176HOM Link to ClinVar
224485226217Likely_benignSteroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant
.0.28315HET Link to ClinVar
224483226219BenignSteroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant
.0.90515HOM Link to ClinVar
293845278562Likely_benignSteroid-resistant_nephrotic_syndrome.0.58786HOM Link to ClinVar
260432249553Benign/Likely_benignSteroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant
not_specified
not_provided
.0.58766HOM Link to ClinVar
260424249559BenignSteroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant
not_specified
0.961570.93091HOM Link to ClinVar
225144227036Likely_benignSteroid-resistant_nephrotic_syndrome
Nephrotic_syndrome,_idiopathic,_steroid-resistant
0.365380.18331HET Link to ClinVar
257699249561Benignnot_specified.0.60883HOM Link to ClinVar
257701249563Conflicting_interpretations_of_pathogenicityMuscular_dystrophy,_limb-girdle,_type_2y
not_specified
0.646590.63538HOM Link to ClinVar
257703249565Benignnot_specified.0.58406HOM Link to ClinVar
257698249568Benignnot_specified0.94850.91853HOM Link to ClinVar
293866278580Likely_benignCombined_Pituitary_Hormone_Deficiency,_Dominant0.06650.04133HET Link to ClinVar
262225249572BenignPituitary_hormone_deficiency,_combined_4
not_specified
Combined_Pituitary_Hormone_Deficiency,_Dominant
0.485020.42632HET Link to ClinVar
293882277506BenignGlutamine_deficiency,_congenital.0.67572HET Link to ClinVar
293891277529BenignGlutamine_deficiency,_congenital.0.71346HET Link to ClinVar
293893278611BenignGlutamine_deficiency,_congenital.1HOM Link to ClinVar
293902277558BenignGlutamine_deficiency,_congenital.0.85463HOM Link to ClinVar
293903277731BenignGlutamine_deficiency,_congenital..HOM Link to ClinVar
293925277624BenignGlutamine_deficiency,_congenital.0.67033HET Link to ClinVar
293934278734BenignGlutamine_deficiency,_congenital.0.67572HET Link to ClinVar
293949277633BenignGlutamine_deficiency,_congenital0.574810.67572HET Link to ClinVar
293950277634Likely_benignGlutamine_deficiency,_congenital.0.01098HET Link to ClinVar
293962278664BenignGlutamine_deficiency,_congenital.0.85743HOM Link to ClinVar
293966278773BenignGlutamine_deficiency,_congenital.0.85663HOM Link to ClinVar
293971277777Likely_benignGlutamine_deficiency,_congenital.0.09325HET Link to ClinVar
293983278713BenignEpidermolysis_bullosa,_junctional0.37990.27476HET Link to ClinVar
259785249573BenignEpidermolysis_bullosa,_junctional
not_specified
0.473860.49621HET Link to ClinVar
294155277933Likely_benignMacular_degeneration0.427090.34305HET Link to ClinVar
294183277951Benign/Likely_benignMacular_degeneration
Age-related_macular_degeneration_1
0.53890.52995HET Link to ClinVar
294186278860Likely_benignMacular_degeneration0.597970.65435HET Link to ClinVar
96208102102Benign/Likely_benignMacular_degeneration
Age-related_macular_degeneration_1
not_specified
0.545280.58267HET Link to ClinVar
294201278898Likely_benignMacular_degeneration0.578320.66134HET Link to ClinVar
294231279089Likely_benignMacular_degeneration.0.67552HET Link to ClinVar
294323278073Likely_benignMacular_degeneration.0.18331HET Link to ClinVar
518309508763BenignCamptodactyly_arthropathy_coxa_vara_pericarditis_syndrome0.3050.23163HOM Link to ClinVar
518311508765BenignCamptodactyly_arthropathy_coxa_vara_pericarditis_syndrome0.301590.22125HOM Link to ClinVar
692303680086Uncertain_significanceFetal_akinesia_sequence
Arthrogryposis_multiplex_congenita
..HET Link to ClinVar
676807657203Benignnot_provided..HET Link to ClinVar
294429279150Uncertain_significanceParathyroid_carcinoma
Hyperparathyroidism_2
Isolated_Hyperparathyroidism
..HET Link to ClinVar
294488279197BenignMacular_degeneration
Mesangiocapillary_glomerulonephritis,_type_II
Basal_laminar_drusen
Atypical_hemolytic_uremic_syndrome
0.666620.71306HET Link to ClinVar
294490278205BenignMacular_degeneration
Mesangiocapillary_glomerulonephritis,_type_II
Basal_laminar_drusen
Atypical_hemolytic_uremic_syndrome
0.672070.73343HET Link to ClinVar
294498278184BenignMacular_degeneration
Mesangiocapillary_glomerulonephritis,_type_II
Basal_laminar_drusen
Atypical_hemolytic_uremic_syndrome
0.194740.20288HET Link to ClinVar
294509278188BenignMacular_degeneration
Mesangiocapillary_glomerulonephritis,_type_II
Basal_laminar_drusen
Atypical_hemolytic_uremic_syndrome
0.195480.20328HET Link to ClinVar
778240696347Benignnot_provided..HET Link to ClinVar
294562278235BenignMesangiocapillary_glomerulonephritis,_type_II.0.27776HOM Link to ClinVar
294566278241Likely_benignFactor_XIII_subunit_B_deficiency.0.22844HET Link to ClinVar
258504249586BenignFactor_XIII_subunit_B_deficiency
not_specified
0.527010.52496HET Link to ClinVar
294586279299Uncertain_significanceFactor_XIII_subunit_B_deficiency0.007690.00339HET Link to ClinVar
258505249588BenignFactor_XIII_subunit_B_deficiency
not_specified
0.880520.78375HOM Link to ClinVar
1652031559BenignFactor_XIII_subunit_B_deficiency
Venous_thrombosis,_susceptibility_to
not_specified
0.871970.76178HOM Link to ClinVar
294591278274BenignPrimary_Microcephaly,_Recessive.0.78235HOM Link to ClinVar
678055657204Benignnot_provided..HOM Link to ClinVar
157775167622BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided
0.878630.78275HOM Link to ClinVar
673924657210Benignnot_provided..HOM Link to ClinVar
673923657173Benignnot_provided..HOM Link to ClinVar
673922657196Benignnot_provided..HOM Link to ClinVar
668875657198Benignnot_provided..HET Link to ClinVar
157902167749Benignnot_specified
not_provided
0.348060.21426HET Link to ClinVar
667999657205Benignnot_provided..HOM Link to ClinVar
678054657208Benignnot_provided..HOM Link to ClinVar
2161134463BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided
.0.21426HET Link to ClinVar
2160534457BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided
0.340890.21426HET Link to ClinVar
2160434456BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided
.0.21426HET Link to ClinVar
2160234454BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
0.887560.8159HOM Link to ClinVar
2159934451BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
0.99560.9974HOM Link to ClinVar
2159334445BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
0.340780.21306HET Link to ClinVar
2158634438BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
0.343890.21446HET Link to ClinVar
673911657216Benignnot_provided..HOM Link to ClinVar
2157834430BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
0.877880.78255HOM Link to ClinVar
678194657220Benignnot_provided..HET Link to ClinVar
670423657224Benignnot_provided..HOM Link to ClinVar
2157334425Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
0.280110.21665HET Link to ClinVar
678053657214Benignnot_provided..HOM Link to ClinVar
667998657225Benignnot_provided..HOM Link to ClinVar
673910657215Benignnot_provided..HET Link to ClinVar
678051657227Benignnot_provided..HOM Link to ClinVar
678190657238Benignnot_provided..HET Link to ClinVar
673909657219Benignnot_provided..HOM Link to ClinVar
678050657234Benignnot_provided..HOM Link to ClinVar
157788167635Benignnot_specified
not_provided
0.877880.78255HOM Link to ClinVar
95890101786BenignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
not_provided
0.869780.75559HOM Link to ClinVar
95888101784Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_5
not_specified
Primary_Microcephaly,_Recessive
0.870380.75559HOM Link to ClinVar
96660102553BenignLeber_congenital_amaurosis
Pigmented_paravenous_chorioretinal_atrophy
not_specified
Retinitis_Pigmentosa,_Recessive
0.445710.40316HOM Link to ClinVar
263260249591Benignnot_specified0.818410.83926HET Link to ClinVar
166956177648Benignnot_specified0.978060.91973HOM Link to ClinVar
427752417641PathogenicAcute_myeloid_leukemia_with_maturation.0.47724HET Link to ClinVar
427753417642PathogenicAcute_myeloid_leukemia_with_maturation.0.51837HOM Link to ClinVar
427754417643PathogenicAcute_myeloid_leukemia_with_maturation.0.79573HOM Link to ClinVar
427755417644PathogenicAcute_myeloid_leukemia_with_maturation.0.79553HOM Link to ClinVar
427756417645PathogenicAcute_myeloid_leukemia_with_maturation.0.82009HOM Link to ClinVar
767740696372Benignnot_provided..HOM Link to ClinVar
678241657244Benignnot_provided..HOM Link to ClinVar
199680196497BenignMalignant_hyperthermia_susceptibility
Hypokalemic_periodic_paralysis
not_specified
not_provided
0.770490.88039HOM Link to ClinVar
668057657255Benignnot_provided..HOM Link to ClinVar
668880657228Benignnot_provided..HOM Link to ClinVar
668056657233Benignnot_provided..HOM Link to ClinVar
254826249614Benignnot_specified0.015270.00439HET Link to ClinVar
668055657261Benignnot_provided..HOM Link to ClinVar
678298657273Benignnot_provided..HOM Link to ClinVar
678297657276Benignnot_provided..HOM Link to ClinVar
668054657281Benignnot_provided..HOM Link to ClinVar
668053657245Benignnot_provided..HOM Link to ClinVar
254804249634BenignMalignant_hyperthermia_susceptibility
Hypokalemic_periodic_paralysis
not_specified
not_provided
0.781370.75959HOM Link to ClinVar
678221657275Benignnot_provided..HOM Link to ClinVar
678220657278Benignnot_provided..HOM Link to ClinVar
678219657249Benignnot_provided..HOM Link to ClinVar
678218657290Benignnot_provided..HOM Link to ClinVar
678216657277Benignnot_provided..HOM Link to ClinVar
254852249654BenignMalignant_hyperthermia_susceptibility
Hypokalemic_periodic_paralysis
not_specified
not_provided
0.388670.30511HOM Link to ClinVar
294795279712BenignEctodermal_dysplasia_skin_fragility_syndrome.0.61362HET Link to ClinVar
294839278505BenignEctodermal_dysplasia_skin_fragility_syndrome.0.67193HOM Link to ClinVar
294846279643BenignEctodermal_dysplasia_skin_fragility_syndrome.0.62939HOM Link to ClinVar
294847278428BenignEctodermal_dysplasia_skin_fragility_syndrome.0.80132HOM Link to ClinVar
294851278508BenignEctodermal_dysplasia_skin_fragility_syndrome.0.6274HOM Link to ClinVar
294854278432BenignEctodermal_dysplasia_skin_fragility_syndrome.0.6274HOM Link to ClinVar
294871279691BenignEctodermal_dysplasia_skin_fragility_syndrome.0.90415HOM Link to ClinVar
294872278521BenignEctodermal_dysplasia_skin_fragility_syndrome.0.94669HOM Link to ClinVar
294886279700BenignEctodermal_dysplasia_skin_fragility_syndrome.0.84225HOM Link to ClinVar
294887279701BenignEctodermal_dysplasia_skin_fragility_syndrome.0.86422HOM Link to ClinVar
256845249665BenignFamilial_hypertrophic_cardiomyopathy_2
not_specified
0.733490.74221HOM Link to ClinVar
671946657344Benignnot_provided..HOM Link to ClinVar
4363252801Benign/Likely_benignCardiomyopathy
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided
0.71940.69509HOM Link to ClinVar
684018657303Benignnot_provided..HOM Link to ClinVar
256843249666Benignnot_specified.0.28554HOM Link to ClinVar
671945657292Benignnot_provided..HOM Link to ClinVar
684013657320Benignnot_provided..HOM Link to ClinVar
811223151risk_factorAsthma-related_traits,_susceptibility_to,_7.0.78554HOM Link to ClinVar
294949279777Likely_benignChitotriosidase_deficiency0.056980.02077HET Link to ClinVar
677222655057Benignnot_provided..HET Link to ClinVar
256380249672Benignnot_specified.0.28115HET Link to ClinVar
403018389367Benignnot_specified0.29830.22185HET Link to ClinVar
801606789914BenignEpilepsy,_familial_adult_myoclonic,_5..HET Link to ClinVar
260658249674Benignnot_specified0.300960.37141HET Link to ClinVar
260657249675Benignnot_specified0.931670.96106HOM Link to ClinVar
403451389347Benignnot_specified0.105490.15415HET Link to ClinVar
403454389371Benignnot_specified0.915040.91414HOM Link to ClinVar
1687331912protective,_risk_factorHuman_immunodeficiency_virus_type_1,_susceptibility_to
Graft-versus-host_disease,_resistance_to
.0.5651HOM Link to ClinVar
402444389358Benignnot_specified0.854490.85783HOM Link to ClinVar
810914799152Benignnot_specified..HET Link to ClinVar
402562389350Benignnot_specified0.883540.94289HET Link to ClinVar
294983278756BenignAtypical_hemolytic_uremic_syndrome.0.34724HET Link to ClinVar
368859353088BenignEpidermolysis_bullosa,_junctional.0.77476HET Link to ClinVar
295059280031BenignEpidermolysis_bullosa,_junctional.0.29513HET Link to ClinVar
255590249681BenignEpidermolysis_bullosa,_junctional
not_specified
not_provided
0.956690.98363HOM Link to ClinVar
255587249684BenignEpidermolysis_bullosa,_junctional
not_specified
0.756450.76498HET Link to ClinVar
255598249689BenignEpidermolysis_bullosa,_junctional
not_specified
0.847170.82328HET Link to ClinVar
255596249691BenignEpidermolysis_bullosa,_junctional
not_specified
0.362480.24541HET Link to ClinVar
255592249694BenignEpidermolysis_bullosa,_junctional
not_specified
0.570940.43251HET Link to ClinVar
255584249695BenignEpidermolysis_bullosa,_junctional
not_specified
0.277910.29792HET Link to ClinVar
295175280046BenignPopliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
.0.3099HOM Link to ClinVar
295178280163BenignPopliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
.0.80811HOM Link to ClinVar
295184280053BenignPopliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
.0.29912HOM Link to ClinVar
295190280057BenignPopliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
.0.29712HOM Link to ClinVar
295193280172BenignPopliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
.0.30371HOM Link to ClinVar
295199280174BenignPopliteal_pterygium_syndrome
Van_der_Woude_syndrome
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
.0.08746HOM Link to ClinVar
259926249700Benignnot_specified.0.40515HOM Link to ClinVar
259925249701BenignPopliteal_pterygium_syndrome
Van_der_Woude_syndrome
not_specified
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
.0.40375HOM Link to ClinVar
259923249702BenignVan_der_Woude_syndrome
not_specified
0.326010.27097HOM Link to ClinVar
295267278948BenignLeber_congenital_amaurosis.0.73902HET Link to ClinVar
295305278964Likely_benignLeber_congenital_amaurosis.0.48203HET Link to ClinVar
717611729961Benignnot_provided..HET Link to ClinVar
403228389380Benignnot_specified0.558360.60304HET Link to ClinVar
177993172380Benignnot_specified0.766190.6897HOM Link to ClinVar
667898657334Benignnot_provided..HOM Link to ClinVar
4837857540Benignnot_specified.0.15934HOM Link to ClinVar
4837757539BenignUsher_syndrome,_type_2A
not_specified
0.191850.14457HOM Link to ClinVar
678886657298Benignnot_provided..HOM Link to ClinVar
667897657339Benignnot_provided..HOM Link to ClinVar
667896657341Benignnot_provided..HOM Link to ClinVar
672465657342Benignnot_provided..HOM Link to ClinVar
678885657346Benignnot_provided..HOM Link to ClinVar
678884657343Benignnot_provided..HOM Link to ClinVar
4834457506BenignUsher_syndrome,_type_2A
not_specified
0.546890.58866HOM Link to ClinVar
672464657347Benignnot_provided..HOM Link to ClinVar
671597657348Benignnot_provided..HOM Link to ClinVar
137896141599Benignnot_specified.0.07847HET Link to ClinVar
4856257724BenignUsher_syndrome,_type_2A
not_specified
0.556690.59345HOM Link to ClinVar
167815172908BenignUsher_syndrome,_type_2A
not_specified
0.606930.59565HOM Link to ClinVar
177992172529Benignnot_specified0.658010.66234HOM Link to ClinVar
667894657377Benignnot_provided..HOM Link to ClinVar
4848357645Benignnot_specified
not_provided
0.015810.00739HET Link to ClinVar
295461279029BenignLoeys-Dietz_syndrome.0.9994HOM Link to ClinVar
295476280527Likely_benignLoeys-Dietz_syndrome..HET Link to ClinVar
213836209434Benign/Likely_benignConnective_tissue_disorder
Loeys-Dietz_syndrome
not_specified
Cardiovascular_phenotype
not_provided
0.00089.HET Link to ClinVar
295576280820Likely_benignHypermanganesemia_with_dystonia_1.0.04093HET Link to ClinVar
295578280787BenignHypermanganesemia_with_dystonia_1.0.86981HET Link to ClinVar
380570364655Benignnot_specified
not_provided
0.035150.02895HET Link to ClinVar
380023364786Benignnot_specified
not_provided
0.080870.07129HET Link to ClinVar
680665657384Benignnot_provided..HET Link to ClinVar
676140657376Benignnot_provided..HET Link to ClinVar
680611657379Benignnot_provided..HET Link to ClinVar
680672657381Benignnot_provided..HET Link to ClinVar
680614657385Benignnot_provided..HET Link to ClinVar
680673657392Benignnot_provided..HET Link to ClinVar
380024364901Benignnot_specified0.10230.06909HET Link to ClinVar
680616657393Benignnot_provided..HET Link to ClinVar
295635280822Likely_benignMartsolf_syndrome
Warburg_micro_syndrome
.0.0627HET Link to ClinVar
130080135526Benign/Likely_benignMartsolf_syndrome
Warburg_micro_syndrome
not_specified
0.087630.0605HET Link to ClinVar
130079135525Benign/Likely_benignMartsolf_syndrome
Warburg_micro_syndrome
not_specified
0.089450.0603HET Link to ClinVar
680734657397Benignnot_provided..HET Link to ClinVar
673980657395Benignnot_provided..HET Link to ClinVar
262131249737Benignnot_specified0.545330.498HET Link to ClinVar
665921698risk_factorLegionellosis0.148720.14018HET Link to ClinVar
402644389376Benignnot_specified0.865910.70128HOM Link to ClinVar
402645389361Benignnot_specified0.865440.70228HOM Link to ClinVar
402646389364Benignnot_specified.0.01597HET Link to ClinVar
402647389366Benignnot_specified0.865430.70328HOM Link to ClinVar
402648389396Benignnot_specified0.86630.70268HOM Link to ClinVar
402649389369Benignnot_specified0.801990.66214HOM Link to ClinVar
402650389401Benignnot_specified0.866570.70208HOM Link to ClinVar
402652389377Benignnot_specified0.32520.48502HET Link to ClinVar
402653389378Benignnot_specified0.32480.48502HET Link to ClinVar
402656389404Benignnot_specified0.493430.52975HOM Link to ClinVar
402657389385Benignnot_specified0.506970.52895HOM Link to ClinVar
402659389383Benignnot_specified0.493570.52915HOM Link to ClinVar
402660389387Benignnot_specified0.512320.52915HOM Link to ClinVar
402661389391Benignnot_specified0.428050.32508HOM Link to ClinVar
402662389393Benignnot_specified0.433390.32947HOM Link to ClinVar
402663389386Benignnot_specified0.74860.70967HOM Link to ClinVar
402664389408Benignnot_specified0.557210.55631HOM Link to ClinVar
402665389410Benignnot_specified0.500250.49181HOM Link to ClinVar
402666389388Benignnot_specified0.548330.52836HOM Link to ClinVar
295935280960Conflicting_interpretations_of_pathogenicityGreenberg_dysplasia
not_provided
0.000180.0006HET Link to ClinVar
258619249738BenignGreenberg_dysplasia
not_specified
not_provided
0.800920.71226HOM Link to ClinVar
258617249740BenignGreenberg_dysplasia
not_specified
not_provided
.0.67093HOM Link to ClinVar
258616249741BenignGreenberg_dysplasia
not_specified
not_provided
0.711230.65715HOM Link to ClinVar
810884799185Benignnot_specified..HOM Link to ClinVar
256184249746Benign/Likely_benignEarly-Onset_Familial_Alzheimer_Disease
not_specified
Dilated_Cardiomyopathy,_Dominant
0.760350.73562HOM Link to ClinVar
256180249747Benign/Likely_benignAlzheimer_disease,_type_4
Early-Onset_Familial_Alzheimer_Disease
not_specified
Dilated_Cardiomyopathy,_Dominant
0.499480.44329HOM Link to ClinVar
256181249748Benign/Likely_benignAlzheimer_disease,_type_4
Early-Onset_Familial_Alzheimer_Disease
not_specified
Dilated_Cardiomyopathy,_Dominant
0.499070.44329HOM Link to ClinVar
296001281058Likely_benignEarly-Onset_Familial_Alzheimer_Disease
Dilated_Cardiomyopathy,_Dominant
.0.45088HOM Link to ClinVar
683200657414Benignnot_provided..HOM Link to ClinVar
671530657420Benignnot_provided..HET Link to ClinVar
671531657424Benignnot_provided..HET Link to ClinVar
671532657396Benignnot_provided..HET Link to ClinVar
128274133723BenignCoenzyme_Q10_deficiency,_primary,_4
not_specified
Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
not_provided
.0.23862HET Link to ClinVar
676090657418Benignnot_provided..HET Link to ClinVar
518313508767Likely_benignCoenzyme_Q10_deficiency,_primary,_40.363150.26518HET Link to ClinVar
683201657421Benignnot_provided..HET Link to ClinVar
296024279683BenignCoenzyme_Q10_deficiency,_primary,_4
Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
not_provided
0.415480.35164HET Link to ClinVar
128275133724BenignCoenzyme_Q10_deficiency,_primary,_4
not_specified
Autosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
not_provided
0.405360.3139HET Link to ClinVar
296038280934BenignAutosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
..HET Link to ClinVar
296040281095BenignAutosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
.0.35204HET Link to ClinVar
296045281096Likely_benignAutosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
.0.09445HET Link to ClinVar
296050281105BenignAutosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
..HET Link to ClinVar
368867353096BenignAutosomal_recessive_cerebellar_ataxia
Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type
.0.41913HET Link to ClinVar
380039364874Benignnot_specified
not_provided
0.489050.35603HET Link to ClinVar
684212657426Benignnot_provided..HOM Link to ClinVar
379988364698Benignnot_specified
not_provided
0.289430.15695HET Link to ClinVar
713265718723Benignnot_provided..HET Link to ClinVar
676564657430Benignnot_provided..HOM Link to ClinVar
767760777079Benignnot_provided..HOM Link to ClinVar
254725249765BenignRenal_dysplasia
not_specified
0.944070.97264HOM Link to ClinVar
1806833107BenignHypertension,_essential,_susceptibility_to
Preeclampsia,_susceptibility_to
Renal_dysplasia
Susceptibility_to_progression_to_renal_failure_in_IgA_nephropathy
not_specified
not_provided
0.548430.70507HOM Link to ClinVar
296083280975Likely_benignRenal_dysplasia0.123010.10164HET Link to ClinVar
296090281157BenignRenal_dysplasia
not_provided
.0.71046HOM Link to ClinVar
296092280986Likely_benignRenal_dysplasia.0.17592HET Link to ClinVar
296097279450BenignRenal_dysplasia.0.1895HET Link to ClinVar
296108279735BenignRhizomelic_chondrodysplasia_punctata
not_specified
0.549010.58187HET Link to ClinVar
671164657443Benignnot_provided..HET Link to ClinVar
671168657355Benignnot_provided..HET Link to ClinVar
260363249768BenignRhizomelic_chondrodysplasia_punctata
Rhizomelic_chondrodysplasia_punctata_type_2
not_specified
not_provided
0.567620.62859HET Link to ClinVar
671169657404Benignnot_provided..HET Link to ClinVar
671188657356Benignnot_provided..HET Link to ClinVar
671189657452Benignnot_provided..HET Link to ClinVar
671190657453Benignnot_provided..HET Link to ClinVar
671196657358Benignnot_provided..HET Link to ClinVar
667599657459Benignnot_provided..HET Link to ClinVar
296151281187BenignFamilial_erythrocytosis.0.02736HET Link to ClinVar
98346104239not_providednot_provided0.292340.23223HET Link to ClinVar
402981389397Benignnot_specified0.109040.08526HET Link to ClinVar
402984389426Benignnot_specified0.636480.60383HET Link to ClinVar
296305281239Likely_benignHypoparathyroidism_retardation_dysmorphism_syndrome0.022690.03614HET Link to ClinVar
262651249770Benignnot_specified0.583980.67871HET Link to ClinVar
403065389398Benign/Likely_benignChédiak-Higashi_syndrome
not_specified
..HET Link to ClinVar
684368657363Benignnot_provided..HET Link to ClinVar
684367657477Benignnot_provided..HET Link to ClinVar
254908249775Benignnot_specified
not_provided
0.43660.39996HET Link to ClinVar
684363657480Benignnot_provided..HET Link to ClinVar
684361657482Benignnot_provided..HET Link to ClinVar
684360657489Benignnot_provided..HET Link to ClinVar
672017657493Benignnot_provided..HET Link to ClinVar
254935249784Benignnot_specified0.248950.23003HET Link to ClinVar
254931249788Conflicting_interpretations_of_pathogenicityChédiak-Higashi_syndrome
not_specified
not_provided
0.004280.00359HET Link to ClinVar
684352657494Benignnot_provided..HET Link to ClinVar
254927249791BenignChédiak-Higashi_syndrome
not_specified
not_provided
0.348320.30092HET Link to ClinVar
254923249795BenignChédiak-Higashi_syndrome
not_specified
not_provided
0.350120.30351HET Link to ClinVar
684345657454Benignnot_provided..HOM Link to ClinVar
254912249806BenignChédiak-Higashi_syndrome
not_specified
not_provided
0.349920.30272HET Link to ClinVar
254910249807BenignChédiak-Higashi_syndrome
not_specified
not_provided
0.349990.30332HET Link to ClinVar
684339657366Benignnot_provided..HET Link to ClinVar
684338657368Benignnot_provided..HET Link to ClinVar
262600249813Benignnot_specified
Hypohidrotic_Ectodermal_Dysplasia,_Recessive
.0.77676HET Link to ClinVar
439637433521Benignnot_specified.0.77236HET Link to ClinVar
262602249816Benign/Likely_benignnot_specified
Hypohidrotic_Ectodermal_Dysplasia,_Recessive
0.202390.13319HET Link to ClinVar
671981657372Benignnot_provided..HET Link to ClinVar
671982657423Benignnot_provided..HET Link to ClinVar
671983657435Benignnot_provided..HOM Link to ClinVar
4393753106Benignnot_specified
Cardiovascular_phenotype
not_provided
0.997910.99261HOM Link to ClinVar
678437657436Benignnot_provided..HOM Link to ClinVar
671984657439Benignnot_provided..HOM Link to ClinVar
4393853107Benignnot_specified
not_provided
0.962380.92073HOM Link to ClinVar
671985657440Benignnot_provided..HOM Link to ClinVar
672001657442Benignnot_provided..HOM Link to ClinVar
672002657373Benignnot_provided..HOM Link to ClinVar
671060657467Benignnot_provided..HET Link to ClinVar
672003657456Benignnot_provided..HOM Link to ClinVar
672004657468Benignnot_provided..HOM Link to ClinVar
177799172789Benignnot_specified
not_provided
0.166740.19589HET Link to ClinVar
672005657513Benignnot_provided..HET Link to ClinVar
678091657461Benignnot_provided..HET Link to ClinVar
671061657476Benignnot_provided..HET Link to ClinVar
4395053119Benign/Likely_benignHypertrophic_cardiomyopathy
Dilated_cardiomyopathy_1AA
not_specified
Dilated_Cardiomyopathy,_Dominant
not_provided
.0.76757HET Link to ClinVar
671062657522Benignnot_provided..HET Link to ClinVar
672006657466Benignnot_provided..HET Link to ClinVar
672446657470Benignnot_provided..HET Link to ClinVar
682668657416Benignnot_provided..HET Link to ClinVar
672007657527Benignnot_provided..HOM Link to ClinVar
672008657491Benignnot_provided..HOM Link to ClinVar
682669657488Benignnot_provided..HET Link to ClinVar
672009657531Benignnot_provided..HOM Link to ClinVar
672010657501Benignnot_provided..HOM Link to ClinVar
682671657492Benignnot_provided..HOM Link to ClinVar
682681657547Benignnot_provided..HOM Link to ClinVar
672011657517Benignnot_provided..HET Link to ClinVar
682682657499Benignnot_provided..HOM Link to ClinVar
671063657523Benignnot_provided..HOM Link to ClinVar
4393353102Benign/Likely_benignHypertrophic_cardiomyopathy
Dilated_cardiomyopathy_1AA
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided
0.168810.19609HET Link to ClinVar
296512281366Likely_benignHypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.34984HET Link to ClinVar
296517280081Likely_benignHypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.40455HET Link to ClinVar
296518281561Likely_benignHypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.55731HET Link to ClinVar
296520281562Likely_benignHypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.21745HET Link to ClinVar
296521279762Likely_benignHypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.39916HET Link to ClinVar
138288141991BenignDisorders_of_Intracellular_Cobalamin_Metabolism
not_specified
0.31840.23223HET Link to ClinVar
138289141992BenignNeural_tube_defects,_folate-sensitive,_susceptibility_to
Gastrointestinal_stroma_tumor
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified
0.209080.21825HET Link to ClinVar
138284141987BenignDisorders_of_Intracellular_Cobalamin_Metabolism
not_specified
.0.52915HET Link to ClinVar
138285141988BenignDisorders_of_Intracellular_Cobalamin_Metabolism
not_specified
0.675590.7524HET Link to ClinVar
296586280140Conflicting_interpretations_of_pathogenicityMETHYLCOBALAMIN_DEFICIENCY,_cblG_TYPE
Disorders_of_Intracellular_Cobalamin_Metabolism
..HET Link to ClinVar
296587279822BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.54014HET Link to ClinVar
296598281447BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.24601HET Link to ClinVar
296610279848BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.76458HET Link to ClinVar
296611281657BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.76438HET Link to ClinVar
296618281662BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.20367HET Link to ClinVar
296631281701BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.73283HET Link to ClinVar
296635281703BenignDisorders_of_Intracellular_Cobalamin_Metabolism..HET Link to ClinVar
296637280180BenignDisorders_of_Intracellular_Cobalamin_Metabolism..HET Link to ClinVar
296655280196BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.53974HET Link to ClinVar
296668281517BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.54473HET Link to ClinVar
296673280208BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.76458HET Link to ClinVar
668912657524Benignnot_provided..HET Link to ClinVar
672066657528Benignnot_provided..HOM Link to ClinVar
683744657549Benignnot_provided..HOM Link to ClinVar
683746657437Benignnot_provided..HET Link to ClinVar
683751657447Benignnot_provided..HOM Link to ClinVar
671021657533Benignnot_provided..HET Link to ClinVar
683754657540Benignnot_provided..HET Link to ClinVar
4381752986Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
.0.55651HOM Link to ClinVar
671745657541Benignnot_provided..HET Link to ClinVar
671746657557Benignnot_provided..HET Link to ClinVar
4374952918Benign/Likely_benignnot_specified..HET Link to ClinVar
683767657521Benignnot_provided..HOM Link to ClinVar
669198657496Benignnot_provided..HOM Link to ClinVar
671748657625Benignnot_provided..HOM Link to ClinVar
673303657564Benignnot_provided..HOM Link to ClinVar
672071657535Benignnot_provided..HOM Link to ClinVar
670895657627Benignnot_provided..HOM Link to ClinVar
683776657569Benignnot_provided..HET Link to ClinVar
671749657532Benignnot_provided..HET Link to ClinVar
4376352932Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
.0.83027HET Link to ClinVar
669902657571Likely_benignnot_provided..HET Link to ClinVar
671750657572Benignnot_provided..HET Link to ClinVar
257207249820Benignnot_specified
not_provided
0.957540.90555HET Link to ClinVar
671751657534Benignnot_provided..HOM Link to ClinVar
671752657643Benignnot_provided..HET Link to ClinVar
257208249821Benignnot_specified
not_provided
0.64430.49281HET Link to ClinVar
672072657559Benignnot_provided..HET Link to ClinVar
672073657550Benignnot_provided..HET Link to ClinVar
674656657583Benignnot_provided..HET Link to ClinVar
669266657646Benignnot_provided..HET Link to ClinVar
683778657584Benignnot_provided..HET Link to ClinVar
257210249823Benignnot_specified
not_provided
0.446710.33746HET Link to ClinVar
683781657648Benignnot_provided..HET Link to ClinVar
671504657553Likely_benignnot_provided..HET Link to ClinVar
4378252951Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
not_provided
0.018240.00719HET Link to ClinVar
257211249824Benignnot_specified
not_provided
0.459790.33586HET Link to ClinVar
257212249825Benignnot_specified
not_provided
0.431740.33746HET Link to ClinVar
671201657555Benignnot_provided..HOM Link to ClinVar
671202657651Benignnot_provided..HET Link to ClinVar
672074657656Benignnot_provided..HET Link to ClinVar
672075657565Benignnot_provided..HET Link to ClinVar
671203657562Benignnot_provided..HET Link to ClinVar
683782657599Benignnot_provided..HET Link to ClinVar
671769657598Benignnot_provided..HOM Link to ClinVar
671770657666Benignnot_provided..HOM Link to ClinVar
672078657603Benignnot_provided..HOM Link to ClinVar
671771657588Benignnot_provided..HOM Link to ClinVar
671772657607Benignnot_provided..HOM Link to ClinVar
683784657612Benignnot_provided..HET Link to ClinVar
671773657626Benignnot_provided..HET Link to ClinVar
257214249826Benignnot_specified
not_provided
0.363650.42851HET Link to ClinVar
671205657616Benignnot_provided..HET Link to ClinVar
671206657618Benignnot_provided..HET Link to ClinVar
671774657681Benignnot_provided..HET Link to ClinVar
671775657637Benignnot_provided..HET Link to ClinVar
671776657621Benignnot_provided..HET Link to ClinVar
4381952988Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
0.988390.95487HOM Link to ClinVar
683787657630Benignnot_provided..HOM Link to ClinVar
672095657631Benignnot_provided..HOM Link to ClinVar
671777657605Benignnot_provided..HET Link to ClinVar
4382752996Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
0.519820.55491HET Link to ClinVar
671207657613Benignnot_provided..HET Link to ClinVar
672096657635Benignnot_provided..HET Link to ClinVar
672097657619Benignnot_provided..HET Link to ClinVar
672098657645Benignnot_provided..HET Link to ClinVar
672099657657Benignnot_provided..HET Link to ClinVar
670946657678Benignnot_provided..HOM Link to ClinVar
671026657663Benignnot_provided..HOM Link to ClinVar
683788657680Benignnot_provided..HOM Link to ClinVar
671208657664Benignnot_provided..HOM Link to ClinVar
3675045411Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
0.253330.09924HOM Link to ClinVar
672100657629Benignnot_provided..HOM Link to ClinVar
672101657667Benignnot_provided..HOM Link to ClinVar
683792657668Benignnot_provided..HOM Link to ClinVar
683794657669Benignnot_provided..HOM Link to ClinVar
4383653005Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
.0.96925HOM Link to ClinVar
671778657711Benignnot_provided..HOM Link to ClinVar
683789657640Benignnot_provided..HOM Link to ClinVar
4369952868Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
0.988590.96046HOM Link to ClinVar
672102657655Benignnot_provided..HOM Link to ClinVar
4370252871Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
0.988530.96026HOM Link to ClinVar
198668195829Benignnot_specified0.995390.98522HOM Link to ClinVar
683797657676Benignnot_provided..HOM Link to ClinVar
683793657712Benignnot_provided..HOM Link to ClinVar
672103657719Benignnot_provided..HOM Link to ClinVar
669249657700Benignnot_provided..HOM Link to ClinVar
9347699381Benignnot_specified0.5750.63658HOM Link to ClinVar
257200249835Benignnot_specified
not_provided
0.278810.29792HOM Link to ClinVar
672161657746Benignnot_provided..HET Link to ClinVar
257201249836Benignnot_specified0.713440.73403HET Link to ClinVar
4373152900Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
0.739890.75759HET Link to ClinVar
4373252901Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
not_specified
0.727310.7508HET Link to ClinVar
669618657707Benignnot_provided..HET Link to ClinVar
678017657734Benignnot_provided..HET Link to ClinVar
683800657745Benignnot_provided..HET Link to ClinVar
683802657761Benignnot_provided..HET Link to ClinVar
669252657762Benignnot_provided..HOM Link to ClinVar
683804657773Benignnot_provided..HOM Link to ClinVar
672106657743Benignnot_provided..HOM Link to ClinVar
296789280387Uncertain_significanceArrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
..HOM Link to ClinVar
296799281694Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
.0.22045HOM Link to ClinVar
296809281876Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Catecholaminergic_polymorphic_ventricular_tachycardia
.0.24681HOM Link to ClinVar
683908657728Benignnot_provided..HET Link to ClinVar
260006249851BenignRenal_dysplasia_and_retinal_aplasia
Bardet-Biedl_syndrome
Senior-Loken_syndrome_7
not_specified
0.297560.27137HET Link to ClinVar
260008249853Benignnot_specified0.26080.23782HET Link to ClinVar
677638656829Likely_benignnot_provided..HET Link to ClinVar
296931280586BenignFamilial_amyloid_nephropathy_with_urticaria_AND_deafness
Familial_cold_autoinflammatory_syndrome
Chronic_infantile_neurological,_cutaneous_and_articular_syndrome
.0.9978HOM Link to ClinVar
138528142231BenignFamilial_amyloid_nephropathy_with_urticaria_AND_deafness
Familial_cold_autoinflammatory_syndrome
Chronic_infantile_neurological,_cutaneous_and_articular_syndrome
not_specified
.0.38738HET Link to ClinVar
403243389399Benignnot_specified0.942590.91993HOM Link to ClinVar
296956280213BenignFamilial_amyloid_nephropathy_with_urticaria_AND_deafness
Familial_cold_autoinflammatory_syndrome
Chronic_infantile_neurological,_cutaneous_and_articular_syndrome
.0.65355HET Link to ClinVar
296960281902BenignFamilial_amyloid_nephropathy_with_urticaria_AND_deafness
Familial_cold_autoinflammatory_syndrome
Chronic_infantile_neurological,_cutaneous_and_articular_syndrome
.0.13159HET Link to ClinVar
767775696646Benignnot_provided..HET Link to ClinVar
331215282528Likely_benignCongenital_hypothyroidism.0.63239HET Link to ClinVar
256607250164Benign/Likely_benignCongenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified
.0.3117HET Link to ClinVar
256605250167Benign/Likely_benignCongenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified
0.457820.40815HET Link to ClinVar
256606250168BenignCongenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified
0.640040.71026HOM Link to ClinVar
256608250170Benign/Likely_benignCongenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified
0.363040.35903HET Link to ClinVar
256610250173Benign/Likely_benignCongenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified
.0.4389HET Link to ClinVar
256611250174Benign/Likely_benignCongenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified
0.427980.4984HET Link to ClinVar
256614250292BenignCongenital_hypothyroidism
Deficiency_of_iodide_peroxidase
not_specified
0.589820.66394HET Link to ClinVar
331644282293Likely_benignCongenital_hypothyroidism.0.35264HET Link to ClinVar
260228250314Benignnot_specified
not_provided
.0.90775HOM Link to ClinVar
260224250318Benignnot_specified
not_provided
.0.24481HOM Link to ClinVar
260223250319Benignnot_specified
not_provided
.0.9355HOM Link to ClinVar
260220250345Benignnot_specified
not_provided
0.756010.8109HOM Link to ClinVar
683674655445Benignnot_provided..HET Link to ClinVar
669563659171Benignnot_provided..HET Link to ClinVar
683672659096Benignnot_provided..HET Link to ClinVar
683668659172Benignnot_provided..HOM Link to ClinVar
670034659098Benignnot_provided..HET Link to ClinVar
670028659196Benignnot_provided..HET Link to ClinVar
335905289245BenignDiamond-Blackfan_anemia
not_specified
0.120250.13339HET Link to ClinVar
402557389501Benignnot_specified0.782660.7512HET Link to ClinVar
402556389503Benignnot_specified0.127220.11921HET Link to ClinVar
330649281475BenignMaturity_onset_diabetes_mellitus_in_young..HOM Link to ClinVar
330669281495BenignMaturity_onset_diabetes_mellitus_in_young.0.83087HOM Link to ClinVar
330674283502BenignMaturity_onset_diabetes_mellitus_in_young.0.58706HOM Link to ClinVar
403386389448Benignnot_specified0.318160.30192HET Link to ClinVar
403387389439Benignnot_specified0.498150.39976HET Link to ClinVar
403044389455Benignnot_specified
not_provided
0.632260.48642HET Link to ClinVar
96495102389Benignnot_specified0.297870.20467HOM Link to ClinVar
683089658057Benignnot_provided..HOM Link to ClinVar
262586250105Benignnot_specified
not_provided
0.559760.53694HOM Link to ClinVar
683094658186Benignnot_provided..HOM Link to ClinVar
684303658010Benignnot_provided..HET Link to ClinVar
262591250108Benign/Likely_benignnot_specified
Acute_Recurrent_Myoglobinuria
.0.04473HET Link to ClinVar
330929284019BenignAcute_Recurrent_Myoglobinuria.0.69489HOM Link to ClinVar
330932283783Likely_benignAcute_Recurrent_Myoglobinuria.0.11641HET Link to ClinVar
330933283789Likely_benignAcute_Recurrent_Myoglobinuria.0.01897HET Link to ClinVar
330940283806BenignAcute_Recurrent_Myoglobinuria.0.23123HET Link to ClinVar
330957282373Uncertain_significanceAcute_Recurrent_Myoglobinuria.0.00579HET Link to ClinVar
333371286855Benign/Likely_benignShort_Rib_Polydactyly_Syndrome
Cranioectodermal_dysplasia
not_specified
0.114810.14297HET Link to ClinVar
167846178154BenignShort_Rib_Polydactyly_Syndrome
Cranioectodermal_dysplasia
not_specified
0.987950.96486HOM Link to ClinVar
256877250472BenignShort_Rib_Polydactyly_Syndrome
Cranioectodermal_dysplasia
not_specified
.0.51078HOM Link to ClinVar
333407283829Benign/Likely_benignShort_Rib_Polydactyly_Syndrome
Multiple_Epiphyseal_Dysplasia,_Dominant
Cranioectodermal_dysplasia
not_specified
0.106510.11861HOM Link to ClinVar
256876250473Benignnot_specified0.546810.6216HOM Link to ClinVar
333410284474BenignShort_Rib_Polydactyly_Syndrome
Multiple_Epiphyseal_Dysplasia,_Dominant
Cranioectodermal_dysplasia
.0.50919HOM Link to ClinVar
258646250475Benignnot_specified0.515810.50939HOM Link to ClinVar
195170192331BenignMultiple_Epiphyseal_Dysplasia,_Dominant
not_specified
0.483710.52436HOM Link to ClinVar
195169192330BenignMultiple_Epiphyseal_Dysplasia,_Dominant
not_specified
0.475390.52476HOM Link to ClinVar
128418133867Benign/Likely_benignFamilial_hypercholesterolemia
Familial_hypercholesterolemia_1
Warfarin_response
Familial_hypobetalipoproteinemia
not_specified
0.705740.62959HOM Link to ClinVar
128425133874Benign/Likely_benignFamilial_hypercholesterolemia
Familial_hypercholesterolemia_1
Warfarin_response
Familial_hypobetalipoproteinemia
not_specified
0.389940.251HOM Link to ClinVar
128424133873Benign/Likely_benignFamilial_hypercholesterolemia
Familial_hypercholesterolemia_1
Familial_hypobetalipoproteinemia
not_specified
not_provided
0.389140.2492HOM Link to ClinVar
335352289041Likely_benignProopiomelanocortin_deficiency
Monogenic_Non-Syndromic_Obesity
.0.11562HOM Link to ClinVar
706983695137Benignnot_provided..HOM Link to ClinVar
335372289069BenignMitochondrial_trifunctional_protein_deficiency
LCHAD_Deficiency
.0.78754HOM Link to ClinVar
676137659109Benignnot_provided..HOM Link to ClinVar
676135659032Benignnot_provided..HOM Link to ClinVar
676286658940Benignnot_provided..HET Link to ClinVar
676133659072Benignnot_provided..HOM Link to ClinVar
681693659036Benignnot_provided..HOM Link to ClinVar
673764659116Benignnot_provided..HOM Link to ClinVar
681690659121Benignnot_provided..HOM Link to ClinVar
681680659080Benignnot_provided..HOM Link to ClinVar
335395288705BenignMitochondrial_trifunctional_protein_deficiency
LCHAD_Deficiency
.0.45727HOM Link to ClinVar
676138659125Benignnot_provided..HOM Link to ClinVar
9260098508BenignMitochondrial_trifunctional_protein_deficiency
not_specified
not_provided
..HOM Link to ClinVar
335410289128BenignMitochondrial_trifunctional_protein_deficiency.0.71106HOM Link to ClinVar
262566250699Benignnot_specified.0.6234HOM Link to ClinVar
402796389516Benignnot_specified0.184030.16114HET Link to ClinVar
262564250700Benignnot_specified0.999330.9992HOM Link to ClinVar
262565250701Benignnot_specified0.715720.53035HOM Link to ClinVar
402797389508Benignnot_specified0.998320.99441HOM Link to ClinVar
683011659141Benignnot_provided..HET Link to ClinVar
2186434716Benign/Likely_benignDeafness,_autosomal_recessive_9
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.055460.05591HET Link to ClinVar
2183634688Benign/Likely_benignDeafness,_autosomal_recessive_9
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.434980.26997HET Link to ClinVar
402999389500Benignnot_specified0.989290.96266HOM Link to ClinVar
335473288764BenignFructosuria,_essential.0.54633HOM Link to ClinVar
335500285791Likely_benignFructosuria,_essential..HET Link to ClinVar
95736101633BenignLeukoencephalopathy_with_vanishing_white_matter
not_specified
not_provided
0.39860.38339HET Link to ClinVar
95738101635BenignLeukoencephalopathy_with_vanishing_white_matter
not_specified
not_provided
0.396190.3784HET Link to ClinVar
335549285839Likely_benignRetinitis_Pigmentosa,_Dominant.0.35204HET Link to ClinVar
379412366599Benignnot_specified0.44030.45407HET Link to ClinVar
379411366532Benignnot_specified0.388570.35363HET Link to ClinVar
683620659148Benignnot_provided..HET Link to ClinVar
379410366610Benignnot_specified0.418650.45407HET Link to ClinVar
683618659095Benignnot_provided..HET Link to ClinVar
476042451000Conflicting_interpretations_of_pathogenicitynot_specified
not_provided
0.007210.0028HET Link to ClinVar
667025654284Benignnot_specified..HET Link to ClinVar
335573286629BenignRetinitis_Pigmentosa,_Recessive.0.92153HOM Link to ClinVar
335575288858Likely_benignRetinitis_Pigmentosa,_Recessive.0.49541HOM Link to ClinVar
335576286632BenignRetinitis_Pigmentosa,_Recessive.0.8157HOM Link to ClinVar
335578289266BenignRetinitis_Pigmentosa,_Recessive.0.97844HOM Link to ClinVar
335583289296BenignRetinitis_Pigmentosa,_Recessive.0.50978HET Link to ClinVar
335584288860Likely_benignRetinitis_Pigmentosa,_Recessive.0.06929HET Link to ClinVar
335590285857BenignRetinitis_Pigmentosa,_Recessive.0.59405HET Link to ClinVar
335591285858BenignRetinitis_Pigmentosa,_Recessive.0.59445HET Link to ClinVar
335592288868BenignRetinitis_Pigmentosa,_Recessive.0.58806HET Link to ClinVar
335599286655BenignRetinitis_Pigmentosa,_Recessive.0.58007HET Link to ClinVar
335601285864BenignRetinitis_Pigmentosa,_Recessive.0.6238HET Link to ClinVar
335605288870Likely_benignRetinitis_Pigmentosa,_Recessive.0.13299HET Link to ClinVar
335609286672Likely_benignRetinitis_Pigmentosa,_Recessive.0.36661HET Link to ClinVar
335613286673Likely_benignRetinitis_Pigmentosa,_Recessive.0.36701HET Link to ClinVar
335621286682Likely_benignRetinitis_Pigmentosa,_Recessive.0.33506HET Link to ClinVar
335625288899Likely_benignRetinitis_Pigmentosa,_Recessive.0.13059HET Link to ClinVar
335627289343Uncertain_significanceRetinitis_Pigmentosa,_Recessive..HET Link to ClinVar
335635285893Likely_benignRetinitis_Pigmentosa,_Recessive0.269430.32708HET Link to ClinVar
287770272007Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.170670.1248HET Link to ClinVar
287769272006Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.170450.125HET Link to ClinVar
193145190310Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.269360.33387HET Link to ClinVar
335662288932Likely_benignRetinitis_Pigmentosa,_Recessive0.26830.33167HET Link to ClinVar
335672285944Likely_benignRetinitis_Pigmentosa,_Recessive0.165670.11122HET Link to ClinVar
335674286730Likely_benignRetinitis_Pigmentosa,_Recessive0.170880.11661HET Link to ClinVar
335677289362BenignNeuroblastoma_Susceptibility.0.99281HOM Link to ClinVar
133472137211BenignHereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided
0.997160.99221HOM Link to ClinVar
676841659127Benignnot_provided..HOM Link to ClinVar
676840658978Benignnot_provided..HET Link to ClinVar
676839659162Benignnot_provided..HET Link to ClinVar
259271250717BenignNeuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided
0.289560.17652HET Link to ClinVar
259268250719BenignHereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided
0.61210.5HET Link to ClinVar
676804659063Benignnot_provided..HOM Link to ClinVar
259266250720BenignHereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided
.0.77656HOM Link to ClinVar
259274250722BenignHereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided
.0.58926HET Link to ClinVar
259269250724BenignHereditary_cancer-predisposing_syndrome
Neuroblastoma_3
not_specified
Neuroblastoma_Susceptibility
not_provided
0.894950.89377HOM Link to ClinVar
335749286785Likely_benignXanthinuria..HOM Link to ClinVar
191300189103BenignXanthinuria
Deficiency_of_xanthine_oxidase
Xanthinuria_type_2
not_specified
0.778460.77736HOM Link to ClinVar
255969250726BenignXanthinuria
not_specified
0.776120.76837HOM Link to ClinVar
255968250727BenignXanthinuria
not_specified
0.786350.79992HOM Link to ClinVar
801659790228BenignXanthinuria_type_2..HET Link to ClinVar
97419103311Benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency
not_provided
.0.16693HET Link to ClinVar
335803286076Likely_benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency.0.01458HET Link to ClinVar
335811286098Likely_benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency.0.01458HET Link to ClinVar
97403103295Benignnot_specified
not_provided
0.684410.64237HET Link to ClinVar
97400103292Benignnot_specified
not_provided
0.699910.65216HET Link to ClinVar
97386103278Benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency
not_provided
.0.64038HET Link to ClinVar
671069659068Benignnot_provided..HET Link to ClinVar
684075659179Benignnot_provided..HOM Link to ClinVar
684076659185Benignnot_provided..HOM Link to ClinVar
667494659029Benignnot_provided..HOM Link to ClinVar
335865289568BenignSpastic_paraplegia,_autosomal_dominant.0.33786HET Link to ClinVar
335875289215Likely_benignSpastic_paraplegia,_autosomal_dominant.0.0028HET Link to ClinVar
335876286164BenignSpastic_paraplegia,_autosomal_dominant..HOM Link to ClinVar
335878286168BenignSpastic_paraplegia,_autosomal_dominant.0.48003HOM Link to ClinVar
335879286173Likely_benignSpastic_paraplegia,_autosomal_dominant.0.003HET Link to ClinVar
783022708246Benignnot_provided..HET Link to ClinVar
783023708251Benignnot_provided..HET Link to ClinVar
783024708252Benignnot_provided..HET Link to ClinVar
783116708254Benignnot_provided..HET Link to ClinVar
783117708255Benignnot_provided..HET Link to ClinVar
236028237595associationLip_and_oral_cavity_carcinoma.0.64337HET Link to ClinVar
790641708265Benignnot_provided..HET Link to ClinVar
335967289323Likely_benignGingival_fibromatosis
Noonan_syndrome
.0.7476HET Link to ClinVar
335973286987Likely_benignGingival_fibromatosis
Noonan_syndrome
.0.74661HET Link to ClinVar
335979289331Likely_benignGingival_fibromatosis
Noonan_syndrome
.0.89956HET Link to ClinVar
212289207000Likely_benignGingival_fibromatosis
Noonan_syndrome
not_specified
..HET Link to ClinVar
335987289686Likely_benignGingival_fibromatosis
Noonan_syndrome
.0.76218HET Link to ClinVar
212288207001Likely_benignGingival_fibromatosis
Noonan_syndrome
not_specified
..HET Link to ClinVar
336010287026Likely_benignGingival_fibromatosis
Noonan_syndrome
..HET Link to ClinVar
336011289730Likely_benignGingival_fibromatosis
Noonan_syndrome
.0.52336HET Link to ClinVar
561358552503Benignnot_provided..HET Link to ClinVar
561828552504Benignnot_provided.0.74401HET Link to ClinVar
259848250731Benignnot_specified0.918820.90016HET Link to ClinVar
259847250733Benignnot_specified..HET Link to ClinVar
561381552509Likely_benignnot_provided.0.00659HET Link to ClinVar
180170178349BenignNoonan_syndrome.0.90515HET Link to ClinVar
4070849178BenignRasopathy
not_specified
not_provided
0.00067.HET Link to ClinVar
561380552512Likely_benignnot_provided.0.00659HET Link to ClinVar
561827552519Benignnot_provided.0.72983HET Link to ClinVar
561826552527Benignnot_provided.0.72943HET Link to ClinVar
561825552528Benignnot_provided.0.89956HET Link to ClinVar
561372552534Benignnot_provided.0.89417HET Link to ClinVar
180179178351BenignNoonan_syndrome
not_specified
0.901410.89137HET Link to ClinVar
561824552538Benignnot_provided..HET Link to ClinVar
336080286334BenignSitosterolemia
not_specified
0.673340.76498HOM Link to ClinVar
336112287094BenignLeigh_syndrome.0.60064HOM Link to ClinVar
684334659202Benignnot_provided..HOM Link to ClinVar
671284659221Benignnot_provided..HOM Link to ClinVar
684327659210Benignnot_provided..HOM Link to ClinVar
671279659128Benignnot_provided..HOM Link to ClinVar
684311659268Benignnot_provided..HOM Link to ClinVar
336184286471BenignCystinuria0.732750.70347HOM Link to ClinVar
167690178072Benignnot_specified
not_provided
0.921450.9375HOM Link to ClinVar
336258287200BenignFamilial_erythrocytosis.0.3125HET Link to ClinVar
336293286566BenignFamilial_erythrocytosis..HET Link to ClinVar
528477518362Likely_benignnot_provided..HET Link to ClinVar
678452659070Benignnot_provided..HET Link to ClinVar
683290659303Benignnot_provided..HET Link to ClinVar
676950659157Benignnot_provided..HET Link to ClinVar
3656445226BenignLynch_syndrome.0.59365HET Link to ClinVar
9059896073BenignLynch_syndrome.0.59924HET Link to ClinVar
9060796082BenignLynch_syndrome.0.08247HET Link to ClinVar
9060996084BenignLynch_syndrome.0.60124HET Link to ClinVar
9059996074BenignLynch_syndrome
not_provided
.0.79473HOM Link to ClinVar
9068796162BenignLynch_syndrome.0.55671HET Link to ClinVar
9084696321BenignLynch_syndrome.0.55192HET Link to ClinVar
676471659239Benignnot_provided..HOM Link to ClinVar
676957659163Benignnot_provided..HET Link to ClinVar
9092496399BenignLynch_syndrome.0.96246HOM Link to ClinVar
4186750306Benignnot_specified
not_provided
0.457950.52795HET Link to ClinVar
3658145243BenignHereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
Lynch_syndrome_I
not_specified
not_provided
.0.20088HET Link to ClinVar
8929494768BenignLynch_syndrome.0.29433HET Link to ClinVar
8952194995BenignLynch_syndrome.0.16953HET Link to ClinVar
676475659241Benignnot_provided..HOM Link to ClinVar
8953295006BenignLynch_syndrome.0.22444HET Link to ClinVar
8954495018BenignLynch_syndrome.0.73782HOM Link to ClinVar
8934594819BenignLynch_syndrome
not_specified
.0.82248HOM Link to ClinVar
4247151641BenignHereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_specified
0.404260.40096HET Link to ClinVar
8941094884BenignLynch_syndrome.0.67232HOM Link to ClinVar
595919586980Benignnot_specified.0.76957HOM Link to ClinVar
8942994903BenignLynch_syndrome
not_specified
..HOM Link to ClinVar
8943294906BenignLynch_syndrome
not_specified
.0.8143HOM Link to ClinVar
3659445256BenignLynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_specified
0.742650.80911HOM Link to ClinVar
336454286696BenignHypergonadotropic_hypogonadism
Leydig_cell_agenesis
Gonadotropin-independent_familial_sexual_precocity
.0.16274HET Link to ClinVar
255607250744BenignHypergonadotropic_hypogonadism
Leydig_cell_agenesis
Gonadotropin-independent_familial_sexual_precocity
not_specified
0.602630.59225HET Link to ClinVar
255609250745BenignHypergonadotropic_hypogonadism
Leydig_cell_agenesis
Gonadotropin-independent_familial_sexual_precocity
not_specified
0.637620.59105HET Link to ClinVar
255608250746BenignHypergonadotropic_hypogonadism
Leydig_cell_agenesis
Gonadotropin-independent_familial_sexual_precocity
not_specified
0.765650.73742HOM Link to ClinVar
137403141106BenignOvarian_hyperstimulation_syndrome
Ovarian_dysgenesis
not_specified
0.316020.34505HET Link to ClinVar
336515290280BenignPitt-Hopkins-like_syndrome.0.22724HOM Link to ClinVar
336528289874BenignPitt-Hopkins-like_syndrome..HOM Link to ClinVar
667709659168Benignnot_provided..HOM Link to ClinVar
675103659254Benignnot_provided..HOM Link to ClinVar
801713790282BenignPitt-Hopkins-like_syndrome_2..HOM Link to ClinVar
667731659349Benignnot_provided..HET Link to ClinVar
667707659112Benignnot_provided..HET Link to ClinVar
667711659118Benignnot_provided..HOM Link to ClinVar
667708659183Benignnot_provided..HET Link to ClinVar
667706659189Benignnot_provided..HET Link to ClinVar
667704659194Benignnot_provided..HET Link to ClinVar
667536659273Benignnot_provided..HET Link to ClinVar
667703659285Benignnot_provided..HET Link to ClinVar
667702659287Benignnot_provided..HET Link to ClinVar
670683659288Benignnot_provided..HET Link to ClinVar
667697659135Benignnot_provided..HET Link to ClinVar
668651659149Benignnot_provided..HOM Link to ClinVar
667699659203Benignnot_provided..HET Link to ClinVar
674918659212Benignnot_provided..HET Link to ClinVar
9360399507BenignHistory_of_neurodevelopmental_disorder
Pitt-Hopkins-like_syndrome
not_specified
0.130580.21306HET Link to ClinVar
683578659152Benignnot_provided..HET Link to ClinVar
138739142442Benignnot_specified
not_provided
0.082820.14756HET Link to ClinVar
138738142441Benignnot_specified
not_provided
0.129790.19848HET Link to ClinVar
683569659161Benignnot_provided..HET Link to ClinVar
671592659375Benignnot_provided..HOM Link to ClinVar
671591659246Benignnot_provided..HOM Link to ClinVar
671588659301Benignnot_provided..HOM Link to ClinVar
671576659252Benignnot_provided..HET Link to ClinVar
669542659169Benignnot_provided..HET Link to ClinVar
683568659302Benignnot_provided..HOM Link to ClinVar
683567659253Benignnot_provided..HOM Link to ClinVar
683564659395Benignnot_provided..HOM Link to ClinVar
671587659404Benignnot_provided..HOM Link to ClinVar
516898500091Benignnot_specified..HET Link to ClinVar
683552659262Benignnot_provided..HET Link to ClinVar
671575659184Benignnot_provided..HET Link to ClinVar
257227250749BenignDoyne_honeycomb_retinal_dystrophy
not_specified
0.053390.03774HET Link to ClinVar
257495250750BenignFanconi_anemia
not_specified
not_provided
0.648660.70647HET Link to ClinVar
336653287621Conflicting_interpretations_of_pathogenicityFanconi_anemia
not_provided
4e-05.HET Link to ClinVar
257494250751Benignnot_specified0.126040.17672HET Link to ClinVar
127265132722BenignFetal_hemoglobin_quantitative_trait_locus_5
Intellectual_developmental_disorder_with_persistence_of_fetal_hemoglobin
.0.48323HET Link to ClinVar
336670287662Conflicting_interpretations_of_pathogenicityPeroxisome_biogenesis_disorder_11A
Peroxisome_biogenesis_disorder_1A_(Zellweger)
0.024070.01138HET Link to ClinVar
336677287682BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.99521HOM Link to ClinVar
336685290432BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.30391HET Link to ClinVar
336687286893Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.07628HET Link to ClinVar
336699290089BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.61601HET Link to ClinVar
336715290453Likely_benignRetinitis_Pigmentosa,_Recessive0.397340.47644HET Link to ClinVar
336727290460Likely_benignRetinitis_Pigmentosa,_Recessive0.399680.47604HET Link to ClinVar
96217102111BenignRetinitis_pigmentosa_28
not_specified
Retinitis_Pigmentosa,_Recessive
0.975890.97963HOM Link to ClinVar
336744287722Likely_benignRetinitis_Pigmentosa,_Recessive0.182920.16014HET Link to ClinVar
193466190630Benignnot_specified0.975940.97943HOM Link to ClinVar
336747290124BenignRetinitis_Pigmentosa,_Recessive0.97460.97943HOM Link to ClinVar
336760290503Uncertain_significanceBardet-Biedl_syndrome0.00015.HET Link to ClinVar
95744101641BenignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
0.605280.76378HOM Link to ClinVar
193387190551Uncertain_significancenot_provided0.00039.HET Link to ClinVar
156571166380not_providednot_provided..HET Link to ClinVar
336784290135BenignCongenital_Myasthenic_Syndrome,_Recessive.0.65535HOM Link to ClinVar
336790286996Uncertain_significanceCongenital_Myasthenic_Syndrome,_Recessive..HET Link to ClinVar
336797290546BenignCongenital_Myasthenic_Syndrome,_Recessive.0.65875HOM Link to ClinVar
336799287017Likely_benignCongenital_Myasthenic_Syndrome,_Recessive.0.10443HET Link to ClinVar
336801290139BenignCongenital_Myasthenic_Syndrome,_Recessive.0.63858HOM Link to ClinVar
336807287799BenignCongenital_Myasthenic_Syndrome,_Recessive.0.64756HOM Link to ClinVar
336818290161BenignCongenital_Myasthenic_Syndrome,_Recessive.0.65875HOM Link to ClinVar
336821290554BenignCongenital_Myasthenic_Syndrome,_Recessive.0.64756HOM Link to ClinVar
336823290555BenignCongenital_Myasthenic_Syndrome,_Recessive.0.66354HOM Link to ClinVar
336829290560BenignCongenital_Myasthenic_Syndrome,_Recessive.0.63838HOM Link to ClinVar
336839290180BenignCongenital_Myasthenic_Syndrome,_Recessive.0.63838HOM Link to ClinVar
336840290192BenignCongenital_Myasthenic_Syndrome,_Recessive.0.64936HOM Link to ClinVar
336859287821BenignCongenital_Myasthenic_Syndrome,_Recessive.0.63818HOM Link to ClinVar
336873290634Uncertain_significanceCongenital_Myasthenic_Syndrome,_Recessive..HOM Link to ClinVar
673466659425Benignnot_provided..HET Link to ClinVar
681723659186Benignnot_provided..HET Link to ClinVar
257667250761Benign/Likely_benignnot_specified
Congenital_Myasthenic_Syndrome,_Recessive
..HET Link to ClinVar
129151134597Benignnot_specified
Congenital_Myasthenic_Syndrome,_Recessive
.0.64717HOM Link to ClinVar
681308659431Benignnot_provided..HOM Link to ClinVar
681306659190Benignnot_provided..HOM Link to ClinVar
681305659281Benignnot_provided..HET Link to ClinVar
682687659283Benignnot_provided..HOM Link to ClinVar
681304659432Benignnot_provided..HOM Link to ClinVar
258543250762Benignnot_specified
not_provided
.0.24401HET Link to ClinVar
672059659331Benignnot_provided..HET Link to ClinVar
682685659197Benignnot_provided..HOM Link to ClinVar
681303659347Benignnot_provided..HOM Link to ClinVar
258544250765Benignnot_specified
not_provided
0.609250.65655HOM Link to ClinVar
671562659200Benignnot_provided..HOM Link to ClinVar
683210659216Benignnot_provided..HOM Link to ClinVar
683209659307Benignnot_provided..HET Link to ClinVar
683208659223Benignnot_provided..HET Link to ClinVar
669524659308Benignnot_provided..HET Link to ClinVar
673395659229Benignnot_provided..HET Link to ClinVar
669523659238Benignnot_provided..HET Link to ClinVar
138516142219BenignMultiple_mitochondrial_dysfunctions_syndrome
not_specified
not_provided
0.392840.31709HET Link to ClinVar
669522659354Benignnot_provided..HET Link to ClinVar
672905659445Benignnot_provided..HET Link to ClinVar
669521659244Benignnot_provided..HET Link to ClinVar
336905287838Uncertain_significancePremature_ovarian_failure..HET Link to ClinVar
336907287106BenignPremature_ovarian_failure0.647930.79772HET Link to ClinVar
336909290660BenignPremature_ovarian_failure0.623140.76298HET Link to ClinVar
369346353575BenignRenal_tubular_acidosis_with_progressive_nerve_deafness.0.53035HOM Link to ClinVar
4422853395BenignRenal_tubular_acidosis_with_progressive_nerve_deafness
not_specified
0.409490.36881HET Link to ClinVar
4423153398BenignRenal_tubular_acidosis_with_progressive_nerve_deafness
not_specified
0.180180.15855HET Link to ClinVar
4422253389BenignRenal_tubular_acidosis_with_progressive_nerve_deafness
not_specified
0.469020.4375HET Link to ClinVar
138182141885BenignMethylmalonic_acidemia
not_specified
0.305640.18251HET Link to ClinVar
668890659459Benignnot_provided..HOM Link to ClinVar
677301659475Likely_benignnot_provided..HET Link to ClinVar
668122659332Benignnot_provided..HOM Link to ClinVar
679370659484Benignnot_provided..HOM Link to ClinVar
679411659333Benignnot_provided..HOM Link to ClinVar
679412659385Benignnot_provided..HOM Link to ClinVar
679413659260Benignnot_provided..HOM Link to ClinVar
679414659264Benignnot_provided..HOM Link to ClinVar
94368100268Benignnot_specified0.475540.36781HOM Link to ClinVar
259065250776Benignnot_specified
not_provided
0.746580.65635HOM Link to ClinVar
94268100168Benignnot_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
0.584560.45767HOM Link to ClinVar
679416659271Benignnot_provided..HOM Link to ClinVar
679418659391Benignnot_provided..HOM Link to ClinVar
679421659512Benignnot_provided..HOM Link to ClinVar
668124659346Benignnot_provided..HOM Link to ClinVar
94281100181Benignnot_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.643020.57548HOM Link to ClinVar
679422659517Benignnot_provided..HOM Link to ClinVar
668895659300Benignnot_provided..HOM Link to ClinVar
94290100190Benignnot_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.604160.55052HOM Link to ClinVar
679423659352Benignnot_provided..HOM Link to ClinVar
679425659361Benignnot_provided..HOM Link to ClinVar
681362659522Benignnot_provided..HET Link to ClinVar
679986659309Benignnot_provided..HET Link to ClinVar
679987659529Benignnot_provided..HET Link to ClinVar
668126659402Benignnot_provided..HOM Link to ClinVar
679992659382Benignnot_provided..HET Link to ClinVar
668898659403Benignnot_provided..HET Link to ClinVar
679993659389Benignnot_provided..HOM Link to ClinVar
679994659393Benignnot_provided..HOM Link to ClinVar
94316100216Benignnot_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.501460.44948HOM Link to ClinVar
679995659396Benignnot_provided..HOM Link to ClinVar
679996659415Benignnot_provided..HOM Link to ClinVar
259080250790Benignnot_specified
not_provided
0.859370.83826HOM Link to ClinVar
668127659320Benignnot_provided..HOM Link to ClinVar
668128659420Benignnot_provided..HOM Link to ClinVar
679998659426Benignnot_provided..HOM Link to ClinVar
259081250791Benignnot_specified
not_provided
0.820180.74481HOM Link to ClinVar
680001659428Benignnot_provided..HOM Link to ClinVar
259082250792Benignnot_specified
not_provided
0.806850.72804HOM Link to ClinVar
94346100246Benignnot_specified0.885080.8782HOM Link to ClinVar
680008659435Benignnot_provided..HOM Link to ClinVar
383755367793Benignnot_specified.0.2512HET Link to ClinVar
383767366927Benignnot_specified0.603310.53275HET Link to ClinVar
383753367798Benignnot_specified
not_provided
.0.36362HET Link to ClinVar
504918496235Benignnot_specified
not_provided
0.862730.8722HOM Link to ClinVar
383768366940BenignAlstrom_syndrome
not_specified
not_provided
0.599090.52636HET Link to ClinVar
383757366999Benignnot_specified
not_provided
0.260880.33826HET Link to ClinVar
379229366959Benignnot_specified
not_provided
0.268130.36362HET Link to ClinVar
383758366730Benignnot_specified
not_provided
0.267590.35883HET Link to ClinVar
383769367864Benignnot_specified
not_provided
0.143220.10363HET Link to ClinVar
383759367014Benignnot_specified
not_provided
0.26990.36382HET Link to ClinVar
383760367891BenignAlstrom_syndrome
not_specified
not_provided
.0.36442HET Link to ClinVar
383761366982Benignnot_specified
not_provided
0.266280.35823HET Link to ClinVar
383762366756Benignnot_specified
not_provided
0.266130.35823HET Link to ClinVar
683047659450Benignnot_provided..HET Link to ClinVar
383763366758Benignnot_specified
not_provided
0.216910.25679HET Link to ClinVar
677826659586Benignnot_provided..HET Link to ClinVar
677827659590Benignnot_provided..HET Link to ClinVar
669780659453Benignnot_provided..HET Link to ClinVar
393379380199BenignMonogenic_diabetes
not_specified
not_provided
0.005970.00719HET Link to ClinVar
383770367006Benignnot_specified0.624430.55292HET Link to ClinVar
383764367925Benignnot_specified
not_provided
0.633380.58227HET Link to ClinVar
383765367049Benignnot_specified
not_provided
0.263580.34165HET Link to ClinVar
677830659337Benignnot_provided..HET Link to ClinVar
337039287232Likely_benignAlstrom_syndrome.0.10523HET Link to ClinVar
160040168077Likely_benignnot_specified0.177610.15855HET Link to ClinVar
160041168078Likely_benignnot_specified0.088370.15955HET Link to ClinVar
679277659468Benignnot_provided..HET Link to ClinVar
679278659351Benignnot_provided..HET Link to ClinVar
679279659474Benignnot_provided..HET Link to ClinVar
683414659357Benignnot_provided..HOM Link to ClinVar
683413659479Benignnot_provided..HOM Link to ClinVar
683410659486Benignnot_provided..HOM Link to ClinVar
683407659365Benignnot_provided..HOM Link to ClinVar
95359101258Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.056420.01737HET Link to ClinVar
337133290711Uncertain_significanceParkinson_Disease,_Dominant1e-05.HET Link to ClinVar
337149290971BenignMitochondrial_DNA_depletion_syndrome
Mitochondrial_DNA_depletion_syndrome_9_(encephalomyopathic_with_methylmalonic_aciduria)
.0.80212HOM Link to ClinVar
684111659367Benignnot_provided..HOM Link to ClinVar
684110659624Benignnot_provided..HOM Link to ClinVar
684109659503Benignnot_provided..HOM Link to ClinVar
669574659373Benignnot_provided..HET Link to ClinVar
402731389523Benignnot_specified0.948750.94469HOM Link to ClinVar
402732389519Benignnot_specified0.943930.92951HOM Link to ClinVar
402733389526Benignnot_specified0.883620.81669HOM Link to ClinVar
402734389530Benignnot_specified0.946550.92971HOM Link to ClinVar
402738389544Benignnot_specified0.162960.09924HET Link to ClinVar
402740389532Benignnot_specified0.973270.98223HOM Link to ClinVar
402742389535Benignnot_specified0.147710.11681HET Link to ClinVar
402745389533Benignnot_specified0.187160.21206HET Link to ClinVar
402746389548Benignnot_specified0.1140.10423HET Link to ClinVar
508141499965Benignnot_specified0.048740.04273HET Link to ClinVar
508142500383Benignnot_specified0.0490.04273HET Link to ClinVar
674848659381Benignnot_provided..HET Link to ClinVar
674698659638Benignnot_provided..HOM Link to ClinVar
381190367044Benignnot_specified0.45290.49281HOM Link to ClinVar
674849659516Benignnot_provided..HET Link to ClinVar
337176288088Uncertain_significanceVitamin_K-Dependent_Clotting_Factors.0.01078HET Link to ClinVar
337179287342BenignVitamin_K-Dependent_Clotting_Factors.0.49361HOM Link to ClinVar
337185291027BenignVitamin_K-Dependent_Clotting_Factors.0.53015HOM Link to ClinVar
337190290804BenignVitamin_K-Dependent_Clotting_Factors.0.10763HET Link to ClinVar
337198287354Uncertain_significanceVitamin_K-Dependent_Clotting_Factors..HET Link to ClinVar
337203290806BenignVitamin_K-Dependent_Clotting_Factors.0.51018HOM Link to ClinVar
337204288100BenignVitamin_K-Dependent_Clotting_Factors.0.28594HET Link to ClinVar
337217288159BenignVitamin_K-Dependent_Clotting_Factors.0.49361HOM Link to ClinVar
337238291057Uncertain_significanceVitamin_K-Dependent_Clotting_Factors.0.00759HET Link to ClinVar
337243291059BenignVitamin_K-Dependent_Clotting_Factors..HOM Link to ClinVar
337266291091BenignVitamin_K-Dependent_Clotting_Factors0.266060.28594HET Link to ClinVar
337268291110BenignVitamin_K-Dependent_Clotting_Factors0.319790.3778HET Link to ClinVar
337275290862Likely_benignVitamin_K-Dependent_Clotting_Factors0.031490.03994HET Link to ClinVar
263205250817Benignnot_specified0.936520.97484HOM Link to ClinVar
165204173673Benignnot_specified
Pulmonary_Surfactant_Metabolism_Dysfunction,_Recessive
0.503720.51997HOM Link to ClinVar
165206173674Benignnot_specified
Pulmonary_Surfactant_Metabolism_Dysfunction,_Recessive
0.35530.29693HET Link to ClinVar
165208173675Benignnot_specified
Pulmonary_Surfactant_Metabolism_Dysfunction,_Recessive
0.425430.41853HET Link to ClinVar
130382135829BenignSalt_and_pepper_developmental_regression_syndrome
not_specified
not_provided
0.222510.20907HET Link to ClinVar
337344288254BenignSpastic_paraplegia,_autosomal_dominant.0.3736HET Link to ClinVar
337345287482BenignSpastic_paraplegia,_autosomal_dominant.0.373HET Link to ClinVar
669113659639Benignnot_provided..HET Link to ClinVar
130108135554BenignSpastic_paraplegia_31,_autosomal_dominant
not_specified
Spastic_paraplegia,_autosomal_dominant
not_provided
0.467340.42871HET Link to ClinVar
669110659438Benignnot_provided..HET Link to ClinVar
128986134433BenignWolcott-Rallison_dysplasia
not_specified
0.702060.72065HET Link to ClinVar
128984134431BenignWolcott-Rallison_dysplasia
not_specified
0.254150.20427HET Link to ClinVar
128988134435BenignWolcott-Rallison_dysplasia
not_specified
0.637920.64896HET Link to ClinVar
128987134434BenignWolcott-Rallison_dysplasia
not_specified
0.298280.28055HET Link to ClinVar
337424291074Likely_benignWolcott-Rallison_dysplasia.0.01577HET Link to ClinVar
337440288313BenignDeficiency_of_ribose-5-phosphate_isomerase.0.1895HET Link to ClinVar
337472291107BenignPheochromocytoma.0.61641HET Link to ClinVar
677140659408Benignnot_provided..HET Link to ClinVar
337536291176Likely_benignRetinitis_Pigmentosa,_Dominant0.309710.24601HET Link to ClinVar
337548291356Likely_benignRetinitis_Pigmentosa,_Dominant0.319010.28414HET Link to ClinVar
337642291334BenignSevere_Combined_Immune_Deficiency.0.14876HET Link to ClinVar
4832757489Benignnot_specified.0.27736HET Link to ClinVar
261428250078Benignnot_specified0.084160.07608HET Link to ClinVar
261429250079Benignnot_specified0.11280.14417HET Link to ClinVar
380029365325Benignnot_specified
not_provided
0.2604.HET Link to ClinVar
330683283642BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant.0.53175HOM Link to ClinVar
330688283656BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant.0.66993HOM Link to ClinVar
330694283660BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant.0.72085HOM Link to ClinVar
155862165611BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant
not_provided
0.906650.88299HOM Link to ClinVar
155865165614Benignnot_specified
Hypohidrotic_Ectodermal_Dysplasia,_Dominant
not_provided
0.810270.71186HOM Link to ClinVar
155864165613Uncertain_significancenot_provided0.795030.67432HOM Link to ClinVar
155870165619Benignnot_specified
Hypohidrotic_Ectodermal_Dysplasia,_Dominant
not_provided
0.916970.92133HOM Link to ClinVar
155869165618Uncertain_significancenot_provided.0.66554HOM Link to ClinVar
155867165616Uncertain_significancenot_provided0.919010.92752HOM Link to ClinVar
255705250088Benignnot_specified0.361330.378HET Link to ClinVar
9271998626BenignNephronophthisis
Joubert_syndrome
Renal_dysplasia_and_retinal_aplasia
not_specified
not_provided
0.379310.47444HET Link to ClinVar
330746283717Likely_benignRetinitis_Pigmentosa,_Recessive0.584460.51478HET Link to ClinVar
330754281580Likely_benignRetinitis_Pigmentosa,_Recessive0.597170.5615HET Link to ClinVar
330759282252Likely_benignRetinitis_Pigmentosa,_Recessive0.597320.5615HET Link to ClinVar
330762281586Likely_benignRetinitis_Pigmentosa,_Recessive0.582450.51518HET Link to ClinVar
330766282254Likely_benignRetinitis_Pigmentosa,_Recessive.0.29693HET Link to ClinVar
330770283784Likely_benignRetinitis_Pigmentosa,_Recessive..HET Link to ClinVar
770130696975Benignnot_provided..HET Link to ClinVar
1467129710risk_factorGastric_cancer_susceptibility_after_h._pylori_infection.0.47244HOM Link to ClinVar
767816696980Benignnot_provided..HET Link to ClinVar
330783283604BenignPustular_psoriasis,_generalized.0.71526HET Link to ClinVar
330784283793BenignPustular_psoriasis,_generalized.0.71546HET Link to ClinVar
330787283612BenignPustular_psoriasis,_generalized.0.71546HET Link to ClinVar
330789282259BenignPustular_psoriasis,_generalized.0.71506HET Link to ClinVar
330790283794BenignPustular_psoriasis,_generalized.0.71506HET Link to ClinVar
330791282260BenignPustular_psoriasis,_generalized.0.71526HET Link to ClinVar
330792283621BenignPustular_psoriasis,_generalized.0.71526HET Link to ClinVar
330796283623BenignPustular_psoriasis,_generalized.0.86981HOM Link to ClinVar
330798281597BenignPustular_psoriasis,_generalized.0.71526HET Link to ClinVar
330802281598BenignPustular_psoriasis,_generalized.0.71526HET Link to ClinVar
537717516358Benignnot_provided.0.25459HET Link to ClinVar
330827283875BenignOsteomyelitis,_sterile_multifocal,_with_periostitis_and_pustulosis
not_specified
.0.35004HET Link to ClinVar
330832281620BenignOsteomyelitis,_sterile_multifocal,_with_periostitis_and_pustulosis.0.35503HET Link to ClinVar
330853281649Likely_benignCongenital_hypothyroidism.0.45567HET Link to ClinVar
330858281655BenignCongenital_hypothyroidism.0.79433HOM Link to ClinVar
330861283928Likely_benignCongenital_hypothyroidism.0.45427HET Link to ClinVar
330864282309Likely_benignCongenital_hypothyroidism.0.32488HET Link to ClinVar
330882283980Uncertain_significanceCongenital_hypothyroidism.0.02716HET Link to ClinVar
767819696990Benignnot_provided..HOM Link to ClinVar
801743790036BenignHoloprosencephaly_1..HOM Link to ClinVar
439758433591Benignnot_specified.0.9387HOM Link to ClinVar
259731250113Benignnot_specified.1HOM Link to ClinVar
259732250114Benignnot_specified0.923420.78594HOM Link to ClinVar
259733250115Benignnot_specified0.920230.78594HOM Link to ClinVar
259736250118BenignHoloprosencephaly_sequence
not_specified
0.940070.82728HOM Link to ClinVar
259709250121Benignnot_specified0.95580.8766HOM Link to ClinVar
259710250122Benignnot_specified0.957220.877HOM Link to ClinVar
259716250127Likely_benignnot_specified.0.00539HET Link to ClinVar
259717250128Benignnot_specified0.907750.77975HOM Link to ClinVar
259725250136Benignnot_specified0.640990.51957HOM Link to ClinVar
95271101170BenignHoloprosencephaly_sequence
not_specified
0.62960.50899HOM Link to ClinVar
95272101171BenignHoloprosencephaly_sequence
not_specified
0.646350.56709HOM Link to ClinVar
95273101172BenignHoloprosencephaly_sequence
not_specified
0.634380.51238HOM Link to ClinVar
331006282392BenignHoloprosencephaly_sequence.0.50779HOM Link to ClinVar
678269658064Benignnot_provided..HET Link to ClinVar
678268658033Benignnot_provided..HET Link to ClinVar
678267658044Benignnot_provided..HET Link to ClinVar
668877658180Benignnot_provided..HET Link to ClinVar
678266658049Benignnot_provided..HET Link to ClinVar
678252658051Benignnot_provided..HET Link to ClinVar
678251658090Benignnot_provided..HET Link to ClinVar
158019167866Benign/Likely_benignAutosomal_recessive_centronuclear_myopathy
not_specified
0.1580.09724HET Link to ClinVar
678250658219Benignnot_provided..HET Link to ClinVar
678249658105Benignnot_provided..HET Link to ClinVar
158017167864Benign/Likely_benignAutosomal_recessive_centronuclear_myopathy
not_specified
0.370370.34525HET Link to ClinVar
678248658221Benignnot_provided..HET Link to ClinVar
678247658224Benignnot_provided..HET Link to ClinVar
678246658056Benignnot_provided..HET Link to ClinVar
678128658106Benignnot_provided..HET Link to ClinVar
678127658110Benignnot_provided..HET Link to ClinVar
678126658058Benignnot_provided..HET Link to ClinVar
680092658230Benignnot_provided..HET Link to ClinVar
678125658231Benignnot_provided..HET Link to ClinVar
678124658067Benignnot_provided..HET Link to ClinVar
678123658233Benignnot_provided..HET Link to ClinVar
668023658202Benignnot_provided..HET Link to ClinVar
255808250153Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_deficiency,_autosomal_dominant
not_specified
0.451370.39317HOM Link to ClinVar
255809250154Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_deficiency,_autosomal_dominant
not_specified
not_provided
0.63430.64577HET Link to ClinVar
255810250155Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_deficiency,_autosomal_dominant
not_specified
not_provided
0.282780.22983HET Link to ClinVar
260987250158Benignnot_specified0.603440.54513HET Link to ClinVar
475544448571Benignnot_provided.0.0012HET Link to ClinVar
130064135510BenignWarburg_micro_syndrome_1
Warburg_micro_syndrome
not_specified
not_provided
.0.21446HET Link to ClinVar
130067135513BenignWarburg_micro_syndrome_1
Warburg_micro_syndrome
not_specified
not_provided
0.517360.78674HET Link to ClinVar
331154281844Likely_benignLactose_intolerance
Congenital_lactase_deficiency
..HET Link to ClinVar
331159281846BenignLactose_intolerance
Congenital_lactase_deficiency
0.79670.73962HET Link to ClinVar
331164284145BenignLactose_intolerance
Congenital_lactase_deficiency
0.621460.44149HET Link to ClinVar
331168282507BenignLactose_intolerance
Congenital_lactase_deficiency
0.605810.44269HET Link to ClinVar
331172281859BenignLactose_intolerance
Congenital_lactase_deficiency
0.75320.66014HET Link to ClinVar
331201281883Uncertain_significanceLactose_intolerance
Congenital_lactase_deficiency
0.000630.0004HET Link to ClinVar
331202284166BenignLactose_intolerance
Congenital_lactase_deficiency
0.555880.35603HET Link to ClinVar
331204282521BenignLactose_intolerance
Congenital_lactase_deficiency
0.994350.97923HOM Link to ClinVar
331207281884BenignLactose_intolerance
Congenital_lactase_deficiency
.0.35503HET Link to ClinVar
331210281889BenignLactose_intolerance
Congenital_lactase_deficiency
0.548730.34844HET Link to ClinVar
768522724associationLactase_persistence.0.16134HET Link to ClinVar
768622725associationLactase_persistence.0.16334HET Link to ClinVar
331272284502BenignMowat-Wilson_syndrome.0.99581HOM Link to ClinVar
670342658232Benignnot_provided..HOM Link to ClinVar
672368658234Benignnot_provided..HET Link to ClinVar
670341658237Benignnot_provided..HET Link to ClinVar
159483168039BenignMeier-Gorlin_syndrome_2
not_specified
.0.35583HET Link to ClinVar
683131658139Benignnot_provided..HET Link to ClinVar
331350284330Likely_benignIntellectual_Disability,_Dominant.0.44908HET Link to ClinVar
682897658120Benignnot_provided..HET Link to ClinVar
669391658152Benignnot_provided..HOM Link to ClinVar
670017658268Benignnot_provided..HOM Link to ClinVar
683976658134Benignnot_provided..HOM Link to ClinVar
331373282037BenignMethylmalonic_acidemia
Disorders_of_Intracellular_Cobalamin_Metabolism
.0.55312HOM Link to ClinVar
331374282047BenignMethylmalonic_acidemia
Disorders_of_Intracellular_Cobalamin_Metabolism
.0.99601HOM Link to ClinVar
285847270084Conflicting_interpretations_of_pathogenicityMethylmalonic_acidemia
Disorders_of_Intracellular_Cobalamin_Metabolism
not_provided
0.002070.0006HET Link to ClinVar
260678250172Likely_benignnot_specified0.753970.6216HOM Link to ClinVar
682622658271Benignnot_provided..HOM Link to ClinVar
203836199984BenignMethylmalonic_acidemia
Methylmalonic_acidemia_with_homocystinuria_cblD
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified
0.868070.75959HOM Link to ClinVar
95126101026Benignnot_specified
Nemaline_Myopathy,_Recessive
not_provided
0.413580.33427HET Link to ClinVar
257804250179Benignnot_specified0.299290.20168HET Link to ClinVar
95122101022Benignnot_specified
not_provided
0.662380.63838HOM Link to ClinVar
95120101020Benignnot_specified
Nemaline_Myopathy,_Recessive
not_provided
0.649940.6278HET Link to ClinVar
257792250189Benignnot_specified0.589540.53594HET Link to ClinVar
95116101016Benignnot_specified
not_provided
.0.54573HET Link to ClinVar
95114101014Benignnot_specified
Nemaline_Myopathy,_Recessive
not_provided
0.583010.49161HET Link to ClinVar
95112101012Benignnot_specified
Nemaline_Myopathy,_Recessive
not_provided
..HET Link to ClinVar
257786250194Benignnot_specified0.58370.4988HET Link to ClinVar
257783250198Benignnot_specified0.640220.624HET Link to ClinVar
95109101009Benignnot_specified
Nemaline_Myopathy,_Recessive
not_provided
0.67070.65316HET Link to ClinVar
331463284405BenignNemaline_myopathy_2
Nemaline_Myopathy,_Recessive
not_provided
..HET Link to ClinVar
257766250212Benignnot_specified00.30751HET Link to ClinVar
257720250255Benignnot_specified.0.2488HET Link to ClinVar
95102101002BenignNemaline_myopathy_2
not_specified
Nemaline_Myopathy,_Recessive
not_provided
0.289110.21985HET Link to ClinVar
226848228541Benignnot_specified
not_provided
.0.626HET Link to ClinVar
226847228542Benignnot_specified
not_provided
0.992820.97205HOM Link to ClinVar
95131101031Benignnot_specified
Nemaline_Myopathy,_Recessive
not_provided
0.738560.53315HOM Link to ClinVar
167336177860Benignnot_specified0.826490.71605HOM Link to ClinVar
95128101028Benignnot_specified
Nemaline_Myopathy,_Recessive
not_provided
0.749940.58347HOM Link to ClinVar
257767250296Benignnot_specified.0.4988HOM Link to ClinVar
257832250301Benignnot_specified0.745420.56929HOM Link to ClinVar
95136101036BenignNemaline_myopathy_2
not_specified
Nemaline_Myopathy,_Recessive
not_provided
0.743750.56929HOM Link to ClinVar
331558282210BenignEpisodic_ataxia
Juvenile_myoclonic_epilepsy
.0.8784HOM Link to ClinVar
331574284875BenignEpisodic_ataxia
Juvenile_myoclonic_epilepsy
.0.46026HET Link to ClinVar
331610282946BenignEpisodic_ataxia
Juvenile_myoclonic_epilepsy
.0.10543HET Link to ClinVar
331614284493BenignEpisodic_ataxia
Juvenile_myoclonic_epilepsy
.0.03914HET Link to ClinVar
331619282291BenignEpisodic_ataxia
Juvenile_myoclonic_epilepsy
..HET Link to ClinVar
331624282984Uncertain_significanceEpisodic_ataxia
Juvenile_myoclonic_epilepsy
..HET Link to ClinVar
331653284954BenignParkinson_Disease,_Dominant/Recessive..HET Link to ClinVar
331655283004BenignParkinson_Disease,_Dominant/Recessive.0.28634HET Link to ClinVar
331685282340BenignProgressive_myositis_ossificans.0.08207HET Link to ClinVar
257466250303BenignProgressive_myositis_ossificans
not_specified
0.964190.91394HOM Link to ClinVar
257464250304BenignProgressive_myositis_ossificans
not_specified
0.750170.65096HOM Link to ClinVar
218475215223Benignnot_specified..HOM Link to ClinVar
587787578942BenignHistory_of_neurodevelopmental_disorder0.823050.75859HOM Link to ClinVar
261566250306Benignnot_specified0.504710.35663HOM Link to ClinVar
261565250307BenignSingleton-Merten_syndrome_1
not_specified
0.676220.58986HOM Link to ClinVar
167650178049Benignnot_specified.0.18171HET Link to ClinVar
586501576575Benignnot_provided0.506760.63458HET Link to ClinVar
95445101344Benignnot_specified0.221480.25739HET Link to ClinVar
684237658142Benignnot_provided..HOM Link to ClinVar
669359658184Benignnot_provided..HET Link to ClinVar
670843658190Benignnot_provided..HET Link to ClinVar
130216135663BenignBenign_familial_neonatal-infantile_seizures
History_of_neurodevelopmental_disorder
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided
0.801650.77236HOM Link to ClinVar
684238658151Benignnot_provided..HOM Link to ClinVar
261400250321Benignnot_specified0.52050.5028HOM Link to ClinVar
684239658197Benignnot_provided..HOM Link to ClinVar
669320658154Benignnot_provided..HOM Link to ClinVar
684240658157Benignnot_provided..HOM Link to ClinVar
669322658329Benignnot_provided..HET Link to ClinVar
684241658332Benignnot_provided..HOM Link to ClinVar
669328658225Benignnot_provided..HET Link to ClinVar
669329658228Benignnot_provided..HET Link to ClinVar
684243658279Benignnot_provided..HET Link to ClinVar
684247658175Benignnot_provided..HET Link to ClinVar
669330658290Benignnot_provided..HET Link to ClinVar
684249658245Benignnot_provided..HET Link to ClinVar
684250658336Benignnot_provided..HET Link to ClinVar
669360658250Benignnot_provided..HET Link to ClinVar
670621658177Benignnot_provided..HET Link to ClinVar
669361658182Benignnot_provided..HET Link to ClinVar
669332658312Benignnot_provided..HET Link to ClinVar
668723658317Benignnot_provided..HET Link to ClinVar
331756283078BenignBenign_familial_neonatal-infantile_seizures
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
.0.38339HET Link to ClinVar
331778282414BenignTumoral_calcinosis,_hyperphosphatemic,_familial.0.32528HOM Link to ClinVar
331801282447Likely_benignJoubert_syndrome
Jeune_thoracic_dystrophy
.0.09105HOM Link to ClinVar
671929658189Benignnot_provided..HOM Link to ClinVar
667577658195Benignnot_provided..HOM Link to ClinVar
130652136098BenignJoubert_syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided
0.330230.27736HOM Link to ClinVar
667576658198Benignnot_provided..HOM Link to ClinVar
674966658201Benignnot_provided..HOM Link to ClinVar
130650136096BenignJoubert_syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided
0.333120.29173HOM Link to ClinVar
674965658263Benignnot_provided..HOM Link to ClinVar
670824658278Benignnot_provided..HOM Link to ClinVar
130660136106BenignJoubert_syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided
0.985260.94808HOM Link to ClinVar
670255658209Benignnot_provided..HOM Link to ClinVar
331873285246BenignEpilepsy
Familial_hemiplegic_migraine
.0.9972HOM Link to ClinVar
669358658226Benignnot_provided..HOM Link to ClinVar
3675345414BenignEpilepsy
Familial_hemiplegic_migraine
History_of_neurodevelopmental_disorder
Generalized_epilepsy_with_febrile_seizures_plus
not_specified
not_provided
0.725210.78854HOM Link to ClinVar
487362480426BenignGeneralized_epilepsy_with_febrile_seizures_plus,_type_2
Familial_hemiplegic_migraine_type_3
Severe_myoclonic_epilepsy_in_infancy
0.72220.78874HOM Link to ClinVar
670620658377Benignnot_provided..HOM Link to ClinVar
669303658379Benignnot_provided..HOM Link to ClinVar
674941658311Benignnot_provided..HOM Link to ClinVar
669301658249Benignnot_provided..HOM Link to ClinVar
684229658313Benignnot_provided..HOM Link to ClinVar
3675245413BenignEpilepsy
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
.0.78894HOM Link to ClinVar
331890282540BenignEpilepsy
Familial_hemiplegic_migraine
..HOM Link to ClinVar
670842658253Benignnot_provided..HOM Link to ClinVar
669300658257Benignnot_provided..HOM Link to ClinVar
684225658343Benignnot_provided..HOM Link to ClinVar
670599658382Benignnot_provided..HOM Link to ClinVar
684217658324Benignnot_provided..HOM Link to ClinVar
670598658334Benignnot_provided..HOM Link to ClinVar
3675145412BenignEpilepsy
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
0.703390.70927HOM Link to ClinVar
669299658335Benignnot_provided..HOM Link to ClinVar
684216658258Benignnot_provided..HOM Link to ClinVar
674940658349Benignnot_provided..HOM Link to ClinVar
670841658350Benignnot_provided..HOM Link to ClinVar
670597658337Benignnot_provided..HOM Link to ClinVar
496114486945Benignnot_provided0.524820.498HOM Link to ClinVar
378510365909Benignnot_specified.0.70907HOM Link to ClinVar
674939658351Benignnot_provided..HOM Link to ClinVar
684215658397Benignnot_provided..HOM Link to ClinVar
684214658354Benignnot_provided..HOM Link to ClinVar
1289727936drug_responseFebrile_seizures,_familial,_3a
carbamazepine_response_-_Dosage
phenytoin_response_-_Dosage
antiepileptics_response_-_Efficacy
carbamazepine_response_-_Efficacy
.0.49341HOM Link to ClinVar
674938658360Benignnot_provided..HOM Link to ClinVar
669297658277Benignnot_provided..HOM Link to ClinVar
668972658358Benignnot_provided..HOM Link to ClinVar
669296658369Benignnot_provided..HOM Link to ClinVar
669295658359Benignnot_provided..HOM Link to ClinVar
669294658364Benignnot_provided..HOM Link to ClinVar
331903283192BenignCongenital_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
.0.08846HET Link to ClinVar
331907284812BenignCongenital_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
.0.42232HET Link to ClinVar
331908282565BenignCongenital_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
331913283202BenignCongenital_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
.0.03235HET Link to ClinVar
331921284821BenignCongenital_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
.0.04673HET Link to ClinVar
331925282571BenignCongenital_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
.0.08367HET Link to ClinVar
331926283209BenignCongenital_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
.0.03235HET Link to ClinVar
331936285321BenignCongenital_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
.0.08846HET Link to ClinVar
331938283243BenignCongenital_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
.0.08347HET Link to ClinVar
331944284837BenignCongenital_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
.0.04673HET Link to ClinVar
331948285329BenignCongenital_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
331950282582BenignCongenital_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
130270135717BenignCongenital_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
0.061980.03195HET Link to ClinVar
258888250346Benignnot_specified0.885030.90136HOM Link to ClinVar
167657178055BenignCongenital_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
130266135713BenignCongenital_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
0.07370.03215HET Link to ClinVar
440255433906Benignnot_specified0.869260.88718HOM Link to ClinVar
167659178056BenignCongenital_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
0.527350.54573HOM Link to ClinVar
2134434196Benign/Likely_benignPrimary_erythromelalgia
Generalized_epilepsy_with_febrile_seizures_plus,_type_7
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
Inherited_Erythromelalgia
not_provided
0.024030.01238HET Link to ClinVar
130257135704BenignCongenital_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
0.494410.54673HOM Link to ClinVar
130256135703BenignCongenital_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
0.373040.35443HOM Link to ClinVar
130254135701BenignCongenital_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
0.3740.35443HOM Link to ClinVar
130269135716BenignCongenital_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
.0.64117HET Link to ClinVar
130259135706BenignCongenital_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
0.58740.57428HET Link to ClinVar
781822707826Benignnot_provided..HET Link to ClinVar
332013285408BenignProgressive_familial_intrahepatic_cholestasis.0.50719HET Link to ClinVar
332014282611BenignProgressive_familial_intrahepatic_cholestasis.0.50679HET Link to ClinVar
332018283364BenignProgressive_familial_intrahepatic_cholestasis.0.72923HOM Link to ClinVar
259152250356BenignProgressive_familial_intrahepatic_cholestasis
not_specified
0.55570.49681HET Link to ClinVar
259148250359Benignnot_specified0.766330.85523HOM Link to ClinVar
259147250360Benignnot_specified0.539850.4976HOM Link to ClinVar
194214191377BenignProgressive_familial_intrahepatic_cholestasis
not_specified
0.579430.58866HET Link to ClinVar
259158250364BenignProgressive_familial_intrahepatic_cholestasis
not_specified
0.705310.77416HET Link to ClinVar
129502134948BenignDonnai_Barrow_syndrome
not_specified
0.683890.55951HOM Link to ClinVar
129501134947BenignDonnai_Barrow_syndrome
not_specified
0.717640.55591HOM Link to ClinVar
129500134946BenignDonnai_Barrow_syndrome
not_specified
0.762130.77796HOM Link to ClinVar
129493134939BenignDonnai_Barrow_syndrome
not_specified
0.202620.1907HOM Link to ClinVar
129526134972BenignDonnai_Barrow_syndrome
not_specified
0.333740.46126HET Link to ClinVar
259418250376Benignnot_specified0.393280.44409HET Link to ClinVar
259416250378Benignnot_specified0.538310.61861HET Link to ClinVar
129519134965BenignDonnai_Barrow_syndrome
not_specified
0.52310.58187HET Link to ClinVar
259414250380Benignnot_specified.0.02117HET Link to ClinVar
259413250381BenignDonnai_Barrow_syndrome
not_specified
0.53730.61861HET Link to ClinVar
129516134962BenignDonnai_Barrow_syndrome
not_specified
0.538480.61861HET Link to ClinVar
129515134961BenignDonnai_Barrow_syndrome
not_specified
0.492080.45647HET Link to ClinVar
129510134956BenignDonnai_Barrow_syndrome
not_specified
0.546440.6224HET Link to ClinVar
129507134953BenignDonnai_Barrow_syndrome
not_specified
0.624540.60963HOM Link to ClinVar
129539134985Benign/Likely_benignDonnai_Barrow_syndrome
not_specified
.0.04034HET Link to ClinVar
259421250382Benignnot_specified0.061640.03894HET Link to ClinVar
259422250383BenignDonnai_Barrow_syndrome
not_specified
0.996390.98463HOM Link to ClinVar
129534134980BenignDonnai_Barrow_syndrome
not_specified
0.997110.98463HOM Link to ClinVar
262633250384Benignnot_specified0.910690.91753HOM Link to ClinVar
332221282779BenignCerebral_palsy_spastic_quadriplegic.0.17552HET Link to ClinVar
128889134336BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities
not_specified
0.272320.30671HET Link to ClinVar
128892134339BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities
not_specified
0.226660.20667HET Link to ClinVar
128887134334BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities
not_specified
0.224280.20607HET Link to ClinVar
332280283636BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities0.263270.20647HET Link to ClinVar
332281285663BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities0.263130.20607HET Link to ClinVar
332297285190BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities0.998610.97744HOM Link to ClinVar
332300283665BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities0.264310.20647HET Link to ClinVar
332306285733BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities0.28250.27176HET Link to ClinVar
332311285742BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities0.264820.20647HET Link to ClinVar
332313282851BenignHypogonadism,_diabetes_mellitus,_alopecia,_mental_retardation_and_electrocardiographic_abnormalities0.263380.20647HET Link to ClinVar
332323285205Likely_benignHypomyelination,_global_cerebral.0.10144HET Link to ClinVar
332344285231Likely_benignHypomyelination,_global_cerebral
not_provided
0.267110.26737HET Link to ClinVar
332346282898BenignHypomyelination,_global_cerebral
not_provided
0.856710.79094HOM Link to ClinVar
332352285786Likely_benignEpidermolysis_bullosa_junctionalis_with_pyloric_atresia.0.07009HET Link to ClinVar
332356285264BenignEpidermolysis_bullosa_junctionalis_with_pyloric_atresia0.356040.5006HET Link to ClinVar
332357285266BenignEpidermolysis_bullosa_junctionalis_with_pyloric_atresia0.346290.48902HET Link to ClinVar
332360285272BenignEpidermolysis_bullosa_junctionalis_with_pyloric_atresia0.280960.2516HET Link to ClinVar
332365283693BenignEpidermolysis_bullosa_junctionalis_with_pyloric_atresia.0.40715HOM Link to ClinVar
332371283697BenignEpidermolysis_bullosa_junctionalis_with_pyloric_atresia.0.08706HET Link to ClinVar
332395282931BenignEpidermolysis_bullosa_junctionalis_with_pyloric_atresia.0.63399HOM Link to ClinVar
332418282948Likely_benignEpidermolysis_bullosa_junctionalis_with_pyloric_atresia..HET Link to ClinVar
769575697167Benignnot_provided..HET Link to ClinVar
403608389462BenignWiskott-Aldrich_syndrome_2
not_specified
0.941050.90795HOM Link to ClinVar
679134658373Benignnot_provided..HOM Link to ClinVar
679133658384Benignnot_provided..HOM Link to ClinVar
679132658388Benignnot_provided..HOM Link to ClinVar
332445283798BenignMultiple_pterygium_syndrome_Escobar_type
not_specified
Congenital_Myasthenic_Syndrome,_Dominant/Recessive
..HOM Link to ClinVar
257237250401Benignnot_specified
not_provided
0.999330.9982HOM Link to ClinVar
679129658394Benignnot_provided..HOM Link to ClinVar
668089658395Benignnot_provided..HOM Link to ClinVar
257235250402BenignMultiple_pterygium_syndrome_Escobar_type
not_specified
Congenital_Myasthenic_Syndrome,_Dominant/Recessive
..HOM Link to ClinVar
679128658283Benignnot_provided..HOM Link to ClinVar
679127658284Benignnot_provided..HOM Link to ClinVar
680121658424Benignnot_provided..HOM Link to ClinVar
332464283832Likely_benignDuane's_syndrome0.433540.33686HET Link to ClinVar
193107190272Benignnot_specified0.368280.44788HET Link to ClinVar
332506285895BenignVertical_talus,_congenital.0.25379HET Link to ClinVar
683748658401Benignnot_provided..HOM Link to ClinVar
683753658405Benignnot_provided..HOM Link to ClinVar
683756658434Benignnot_provided..HOM Link to ClinVar
683770658436Benignnot_provided..HOM Link to ClinVar
683775658447Benignnot_provided..HOM Link to ClinVar
683777658411Benignnot_provided..HOM Link to ClinVar
683779658412Benignnot_provided..HOM Link to ClinVar
332549283057BenignRhizomelic_chondrodysplasia_punctata..HOM Link to ClinVar
332583285569BenignRhizomelic_chondrodysplasia_punctata.0.69669HOM Link to ClinVar
332585285580BenignRhizomelic_chondrodysplasia_punctata..HOM Link to ClinVar
332592283120BenignRhizomelic_chondrodysplasia_punctata.0.877HOM Link to ClinVar
332599283878BenignRhizomelic_chondrodysplasia_punctata.0.8764HOM Link to ClinVar
332611286048BenignDystonia..HET Link to ClinVar
332612283881BenignDystonia..HET Link to ClinVar
332613285621Uncertain_significanceDystonia..HET Link to ClinVar
332615283885BenignDystonia.0.21486HET Link to ClinVar
332618283886Uncertain_significanceDystonia..HET Link to ClinVar
332620285627BenignDystonia0.24498.HET Link to ClinVar
469612449299Benignnot_provided0.007820.0028HET Link to ClinVar
4769156855Conflicting_interpretations_of_pathogenicityCardiomyopathy
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
0.008880.00319HET Link to ClinVar
4745256616Benign/Likely_benignCardiomyopathy
not_specified
Cardiovascular_phenotype
not_provided
0.008920.0028HET Link to ClinVar
4736756532Benign/Likely_benignHypertrophic_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
0.236810.12999HOM Link to ClinVar
4729356458Benign/Likely_benignHypertrophic_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
.0.14657HOM Link to ClinVar
4728656451Uncertain_significanceLimb-girdle_muscular_dystrophy,_type_2J
Dilated_cardiomyopathy_1G
not_specified
not_provided
0.00025.HET Link to ClinVar
4725056415Benign/Likely_benignCardiomyopathy
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
0.998630.99461HOM Link to ClinVar
4721856383Benign/Likely_benignHypertrophic_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
0.025640.01078HET Link to ClinVar
595148586210Uncertain_significancenot_provided2e-05.HET Link to ClinVar
4712056285Benign/Likely_benignHypertrophic_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
0.234870.127HOM Link to ClinVar
4688656051Benign/Likely_benignHypertrophic_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
0.234730.126HOM Link to ClinVar
4685956024Benign/Likely_benignHypertrophic_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
0.399480.41334HOM Link to ClinVar
4671455879Benign/Likely_benignHypertrophic_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
0.994960.98203HOM Link to ClinVar
4659055755Benign/Likely_benignHypertrophic_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
0.994880.98183HOM Link to ClinVar
4774356907Benignnot_specified0.99260.97504HOM Link to ClinVar
4773656900Benignnot_specified0.827090.73303HOM Link to ClinVar
4773556899Benignnot_specified0.992610.97504HOM Link to ClinVar
4773356897Benignnot_specified0.992560.97504HOM Link to ClinVar
680821658475Benignnot_provided..HOM Link to ClinVar
4785257016Benignnot_specified
not_provided
0.85080.80451HOM Link to ClinVar
137832141535Benignnot_specified
not_provided
0.999690.999HOM Link to ClinVar
4658255747Benign/Likely_benignHypertrophic_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
0.851170.80891HOM Link to ClinVar
4770756871Benign/Likely_benignHypertrophic_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
0.99210.97364HOM Link to ClinVar
4769256856Benign/Likely_benignHypertrophic_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
0.850020.80491HOM Link to ClinVar
4706356228Benign/Likely_benignHypertrophic_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
0.958770.91154HOM Link to ClinVar
4700156166Benign/Likely_benignHypertrophic_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
0.960580.92013HOM Link to ClinVar
4697356138Benign/Likely_benignHypertrophic_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
0.694440.5002HOM Link to ClinVar
680819658485Benignnot_provided..HOM Link to ClinVar
680817658491Benignnot_provided..HOM Link to ClinVar
4677455939Benign/Likely_benignHypertrophic_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
0.319220.20467HOM Link to ClinVar
672045658492Benignnot_provided..HOM Link to ClinVar
672044658662Benignnot_provided..HOM Link to ClinVar
671211658509Benignnot_provided..HOM Link to ClinVar
332979283440BenignRetinitis_Pigmentosa,_Recessive0.998260.99141HOM Link to ClinVar
332987286027BenignRetinitis_Pigmentosa,_Recessive0.998240.99141HOM Link to ClinVar
333001284119BenignRetinitis_Pigmentosa,_Recessive0.768890.76757HET Link to ClinVar
166844177576Benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.997480.99121HOM Link to ClinVar
257149250436Benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.623940.64836HET Link to ClinVar
166846177577BenignRetinitis_pigmentosa_26
not_specified
0.618070.64796HET Link to ClinVar
166848177578Benign/Likely_benignRetinitis_pigmentosa_26
not_specified
Retinitis_Pigmentosa,_Recessive
0.16020.27117HET Link to ClinVar
166849177579Benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.525710.50739HOM Link to ClinVar
801839790136BenignMaturity_onset_diabetes_mellitus_in_young..HOM Link to ClinVar
333042286090BenignMaturity_onset_diabetes_mellitus_in_young.0.77816HOM Link to ClinVar
673782658588Benignnot_provided..HOM Link to ClinVar
670961658634Benignnot_provided..HOM Link to ClinVar
678460658519Benignnot_provided..HOM Link to ClinVar
683360658693Likely_benignnot_provided..HET Link to ClinVar
199694196782Conflicting_interpretations_of_pathogenicityEhlers-Danlos_syndrome,_type_4
Thoracic_aortic_aneurysm_and_aortic_dissection
Cardiovascular_phenotype
..HET Link to ClinVar
670964658643Benignnot_provided..HOM Link to ClinVar
670965658541Benignnot_provided..HOM Link to ClinVar
672236658648Benignnot_provided..HOM Link to ClinVar
254962250446Benignnot_specified
not_provided
0.758660.77636HOM Link to ClinVar
674274658555Benignnot_provided..HOM Link to ClinVar
683353658663Benignnot_provided..HOM Link to ClinVar
226540228910BenignEhlers-Danlos_syndrome,_type_4
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
0.998510.99661HOM Link to ClinVar
672310658664Benignnot_provided..HOM Link to ClinVar
670990658674Benignnot_provided..HOM Link to ClinVar
672287658665Benignnot_provided..HOM Link to ClinVar
681217658679Benignnot_provided..HOM Link to ClinVar
256004250456Benignnot_specified
not_provided
0.724510.64337HOM Link to ClinVar
681216658758Benignnot_provided..HOM Link to ClinVar
681215658759Benignnot_provided..HOM Link to ClinVar
681212658593Benignnot_provided..HOM Link to ClinVar
672286658699Benignnot_provided..HOM Link to ClinVar
670987658599Benignnot_provided..HOM Link to ClinVar
670986658711Benignnot_provided..HOM Link to ClinVar
672285658603Benignnot_provided..HOM Link to ClinVar
672284658606Benignnot_provided..HOM Link to ClinVar
213077209545Benignnot_specified..HOM Link to ClinVar
672283658784Benignnot_provided..HOM Link to ClinVar
255997250461Benignnot_specified
not_provided
0.959290.94249HOM Link to ClinVar
670984658712Benignnot_provided..HOM Link to ClinVar
679169658710Benignnot_provided..HOM Link to ClinVar
681211658713Benignnot_provided..HOM Link to ClinVar
136939140642Benign/Likely_benignEhlers-Danlos_syndrome,_type_7A
Ehlers-Danlos_syndrome_classic_type_2
Ehlers-Danlos_syndrome,_classic_type
not_specified
Cardiovascular_phenotype
not_provided
0.032410.01158HET Link to ClinVar
672282658720Benignnot_provided..HOM Link to ClinVar
681210658608Benignnot_provided..HOM Link to ClinVar
136968140671Benign/Likely_benignEhlers-Danlos_syndrome_classic_type_2
Ehlers-Danlos_syndrome,_classic_type
not_specified
not_provided
0.006380.00439HET Link to ClinVar
439540433445BenignEhlers-Danlos_syndrome_classic_type_2
not_provided
.0.78854HOM Link to ClinVar
439539433444BenignEhlers-Danlos_syndrome_classic_type_20.93220.88858HOM Link to ClinVar
679168658741Benignnot_provided..HOM Link to ClinVar
260422250469BenignHereditary_hemochromatosis
not_specified
not_provided
0.614250.55012HOM Link to ClinVar
774411697214Likely_benignnot_provided..HET Link to ClinVar
369322353551Likely_benignLynch_syndrome.0.08806HET Link to ClinVar
333199284296Likely_benignLynch_syndrome.0.21925HET Link to ClinVar
333223286659BenignMyostatin-related_muscle_hypertrophy.0.03135HET Link to ClinVar
379986366282Benignnot_specified
not_provided
0.739280.68431HOM Link to ClinVar
379985366807Benignnot_specified
not_provided
0.527870.43171HET Link to ClinVar
379984366040Benignnot_specified0.684310.54872HET Link to ClinVar
403495389452Benignnot_specified0.641540.49641HOM Link to ClinVar
402748389457Benignnot_specified0.989350.96126HOM Link to ClinVar
402753389459Benignnot_specified0.589330.48003HET Link to ClinVar
402755389470Benignnot_specified0.631210.54074HET Link to ClinVar
402756389460Benignnot_specified0.828190.65375HOM Link to ClinVar
402757389467Benignnot_specified0.7330.77177HET Link to ClinVar
671556658840Benignnot_provided..HET Link to ClinVar
129241134687Benignnot_specified
Spastic_paraplegia,_autosomal_dominant
not_provided
0.649010.65455HET Link to ClinVar
129243134689Benignnot_specified
Spastic_paraplegia,_autosomal_dominant
not_provided
0.164260.15815HET Link to ClinVar
137567141270Benignnot_specified
Spastic_paraplegia,_autosomal_dominant
.0.23323HET Link to ClinVar
587756578967BenignHistory_of_neurodevelopmental_disorder0.981970.93091HOM Link to ClinVar
333418284490BenignAutoimmune_lymphoproliferative_syndrome
not_specified
0.45240.39417HOM Link to ClinVar
333442286508BenignAutoimmune_lymphoproliferative_syndrome
not_specified
0.409880.32907HOM Link to ClinVar
333471286531BenignAutoimmune_lymphoproliferative_syndrome..HET Link to ClinVar
333476284569Uncertain_significanceAutoimmune_lymphoproliferative_syndrome..HOM Link to ClinVar
776322802protectiveLung_cancer,_protection_against.0.38898HOM Link to ClinVar
402492389468Benignnot_specified0.66730.64637HET Link to ClinVar
333505284615BenignCaspase-8_deficiency0.1020.17532HET Link to ClinVar
333513284626BenignCaspase-8_deficiency.0.55431HET Link to ClinVar
333520283943BenignCaspase-8_deficiency.0.17772HET Link to ClinVar
333526284641BenignCaspase-8_deficiency..HET Link to ClinVar
257314250479Benignnot_specified
not_provided
.0.36182HET Link to ClinVar
667554658841Benignnot_provided..HET Link to ClinVar
257317250486Benignnot_specified
not_provided
0.656580.58506HET Link to ClinVar
333574283960Likely_benignALS2-Related_Disorders
Amyotrophic_Lateral_Sclerosis,_Recessive
.0.10244HET Link to ClinVar
333577287069Likely_benignALS2-Related_Disorders
Amyotrophic_Lateral_Sclerosis,_Recessive
.0.08966HET Link to ClinVar
261379250492Benignnot_specified0.923630.90595HOM Link to ClinVar
261377250494BenignALS2-Related_Disorders
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
not_provided
0.923210.90535HOM Link to ClinVar
261375250496Benignnot_specified0.830480.80411HET Link to ClinVar
261373250498Likely_benignnot_specified.0.00399HET Link to ClinVar
261369250501Benign/Likely_benignALS2-Related_Disorders
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
0.097850.11502HET Link to ClinVar
261368250502BenignALS2-Related_Disorders
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
not_provided
0.527170.3724HET Link to ClinVar
261364250505BenignALS2-Related_Disorders
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
not_provided
0.91060.89657HOM Link to ClinVar
678684658846Benignnot_provided..HET Link to ClinVar
676056658748Benignnot_provided..HET Link to ClinVar
136528140231Benign/Likely_benignPrimary_pulmonary_hypertension
not_specified
0.025160.00998HET Link to ClinVar
333682287174BenignPrimary_pulmonary_hypertension..HET Link to ClinVar
333715286792BenignPrimary_pulmonary_hypertension.0.55431HET Link to ClinVar
1692131960BenignDiabetes_mellitus,_insulin-dependent,_susceptibility_to
Hashimoto_thyroiditis,_susceptibility_to
Systemic_lupus_erythematosus,_susceptibility_to
Thyroid-associated_orbitopathy,_susceptibility_to
Celiac_disease_3
not_specified
.0.42732HOM Link to ClinVar
333771286845Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.07947HET Link to ClinVar
333774284912Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.47724HET Link to ClinVar
683068658032Benignnot_provided..HET Link to ClinVar
683049658036Benignnot_provided..HET Link to ClinVar
669517658163Benignnot_provided..HET Link to ClinVar
683048658164Benignnot_provided..HET Link to ClinVar
683046658167Benignnot_provided..HET Link to ClinVar
683045658147Benignnot_provided..HET Link to ClinVar
683042658169Benignnot_provided..HET Link to ClinVar
669516658171Benignnot_provided..HET Link to ClinVar
683041658041Benignnot_provided..HET Link to ClinVar
129695135141Benign/Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
0.310520.3099HET Link to ClinVar
682758658173Benignnot_provided..HET Link to ClinVar
669514658174Benignnot_provided..HET Link to ClinVar
129696135142Benign/Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
.0.46226HET Link to ClinVar
333790284926Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.38019HET Link to ClinVar
333794284936Likely_benignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency.0.11042HET Link to ClinVar
683905658751Benignnot_provided..HOM Link to ClinVar
333811284961Uncertain_significanceHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency.0.01358HET Link to ClinVar
333825286901Likely_benignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency.0.1853HET Link to ClinVar
260059250511BenignCataract
not_specified
0.879240.8117HOM Link to ClinVar
260061250512BenignCataract
not_specified
not_provided
.0.77676HOM Link to ClinVar
260062250514BenignCataract
not_specified
not_provided
0.596880.64477HOM Link to ClinVar
677166655409Benignnot_provided..HOM Link to ClinVar
677165655410Benignnot_provided..HOM Link to ClinVar
333897284315BenignFleck_corneal_dystrophy0.997690.99181HOM Link to ClinVar
333898285012BenignFleck_corneal_dystrophy0.959760.91154HOM Link to ClinVar
333905287364BenignFleck_corneal_dystrophy.0.91174HOM Link to ClinVar
333909287006BenignFleck_corneal_dystrophy0.959720.91154HOM Link to ClinVar
333910287007BenignFleck_corneal_dystrophy0.960060.91214HOM Link to ClinVar
333917284327BenignFleck_corneal_dystrophy0.959610.91154HOM Link to ClinVar
333918284328BenignFleck_corneal_dystrophy0.998470.99601HOM Link to ClinVar
333928285022BenignFleck_corneal_dystrophy0.959550.91094HOM Link to ClinVar
333930284331BenignFleck_corneal_dystrophy0.809860.71605HOM Link to ClinVar
333932284336BenignFleck_corneal_dystrophy0.95960.91114HOM Link to ClinVar
333934284342BenignFleck_corneal_dystrophy0.959610.91114HOM Link to ClinVar
333941287029BenignFleck_corneal_dystrophy.0.91114HOM Link to ClinVar
333942287467BenignFleck_corneal_dystrophy.0.91114HOM Link to ClinVar
162016659BenignVery_long_chain_acyl-CoA_dehydrogenase_deficiency
not_specified
not_provided
0.301090.21106HET Link to ClinVar
333997287296BenignVery_long_chain_acyl-CoA_dehydrogenase_deficiency0.301820.21166HET Link to ClinVar
671408658854Benignnot_provided..HET Link to ClinVar
137026140729BenignCongenital_hyperammonemia,_type_I
not_specified
0.506570.48083HET Link to ClinVar
203647199986BenignCongenital_hyperammonemia,_type_I
not_specified
not_provided
..HET Link to ClinVar
683611658856Benignnot_provided..HET Link to ClinVar
683612658858Benignnot_provided..HET Link to ClinVar
281476265713Benignnot_specified
not_provided
..HET Link to ClinVar
128851134299BenignCongenital_hyperammonemia,_type_I
not_specified
not_provided
.0.64916HET Link to ClinVar
258479250536Benignnot_specified
not_provided
0.418570.42272HET Link to ClinVar
683616658760Benignnot_provided..HET Link to ClinVar
258483250540Benign/Likely_benignCongenital_hyperammonemia,_type_I
not_specified
..HET Link to ClinVar
128852134300BenignCongenital_hyperammonemia,_type_I
not_specified
0.303390.28854HET Link to ClinVar
203646199993Benign/Likely_benignCongenital_hyperammonemia,_type_I
not_specified
.0.01937HET Link to ClinVar
334042287441BenignCongenital_hyperammonemia,_type_I.0.23622HET Link to ClinVar
334045284568BenignCongenital_hyperammonemia,_type_I.0.26897HET Link to ClinVar
334046285250BenignCongenital_hyperammonemia,_type_I.0.24581HET Link to ClinVar
769264777230Benignnot_provided..HET Link to ClinVar
801875790173BenignFamilial_cancer_of_breast... Link to ClinVar
256214250542Benign/Likely_benignNeoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
not_specified
0.36140.35224HET Link to ClinVar
215471212134Benign/Likely_benignHereditary_cancer-predisposing_syndrome
not_specified
not_provided
..HET Link to ClinVar
256213250543BenignHereditary_cancer-predisposing_syndrome
not_specified
0.381810.36522HET Link to ClinVar
142769152483Benign/Likely_benignNeoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
0.54870.45927HOM Link to ClinVar
334196285273Conflicting_interpretations_of_pathogenicityNeoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
..HET Link to ClinVar
183698181856Benign/Likely_benignNeoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
0.437680.33127HET Link to ClinVar
334200284585Likely_benignNeoplasm_of_the_breast0.689510.74501HET Link to ClinVar
334204287669BenignCongenital_ichthyosiform_erythroderma..HOM Link to ClinVar
334208287676BenignCongenital_ichthyosiform_erythroderma.0.59385HOM Link to ClinVar
334218287697BenignCongenital_ichthyosiform_erythroderma0.431350.39816HOM Link to ClinVar
262833250544Benignnot_specified0.469680.52336HOM Link to ClinVar
262831250546BenignCongenital_ichthyosiform_erythroderma
not_specified
0.405110.35004HOM Link to ClinVar
262828250549Benignnot_specified0.999680.999HOM Link to ClinVar
262824250553BenignCongenital_ichthyosiform_erythroderma
not_specified
0.99940.9984HOM Link to ClinVar
801893790193BenignAICAR_transformylase/IMP_cyclohydrolase_deficiency..HOM Link to ClinVar
225999227829drug_responsemethotrexate_response_-_Efficacy0.39660.28554HOM Link to ClinVar
788697708016Benignnot_provided..HET Link to ClinVar
801895790195BenignSpondylometaphyseal_dysplasia..HOM Link to ClinVar
334280284640BenignSchimke_immunoosseous_dysplasia.0.20787HET Link to ClinVar
260662250572BenignParoxysmal_nonkinesigenic_dyskinesia_1
not_specified
not_provided
0.043870.05132HET Link to ClinVar
334332284672BenignParoxysmal_nonkinesigenic_dyskinesia_1.0.27436HET Link to ClinVar
334342287832BenignParoxysmal_nonkinesigenic_dyskinesia_1.0.47664HET Link to ClinVar
334345287836BenignParoxysmal_nonkinesigenic_dyskinesia_1.0.46805HET Link to ClinVar
769265697320Benignnot_provided..HET Link to ClinVar
669695658817Benignnot_provided..HOM Link to ClinVar
334362287853BenignCholestanol_storage_disease..HOM Link to ClinVar
281220265457Benign/Likely_benignBrachydactyly
not_specified
not_provided
0.004110.0028HET Link to ClinVar
780100708050Benignnot_provided..HET Link to ClinVar
780101708052Benignnot_provided..HET Link to ClinVar
680749658820Benignnot_provided..HET Link to ClinVar
137118140821Benignnot_specified.0.26977HET Link to ClinVar
680750658678Benignnot_provided..HET Link to ClinVar
674022658898Benignnot_provided..HET Link to ClinVar
137119140822Benignnot_specified0.149630.15535HET Link to ClinVar
671677658792Benignnot_provided..HET Link to ClinVar
680751658793Benignnot_provided..HET Link to ClinVar
672013658797Benignnot_provided..HOM Link to ClinVar
3600244666BenignCardiomyopathy
Scapuloperoneal_weakness
Myofibrillar_myopathy_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
not_provided
0.965210.88618HOM Link to ClinVar
3600344667BenignCardiomyopathy
Scapuloperoneal_weakness
Myofibrillar_myopathy_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
not_provided
.0.86601HOM Link to ClinVar
258491250577Benignnot_specified
not_provided
0.616940.52935HOM Link to ClinVar
369331353560BenignScapuloperoneal_weakness
Myofibrillar_myopathy_1
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
.0.52836HOM Link to ClinVar
194972192134BenignThree_M_syndrome
not_specified
0.466810.38758HOM Link to ClinVar
288014272251BenignThree_M_syndrome_2
Three_M_syndrome
not_specified
0.468330.3766HOM Link to ClinVar
334466287705BenignThree_M_syndrome0.996080.98522HOM Link to ClinVar
334469287707BenignThree_M_syndrome0.985860.96106HOM Link to ClinVar
334470284807BenignThree_M_syndrome.0.22923HOM Link to ClinVar
334475284811BenignThree_M_syndrome0.990080.96366HOM Link to ClinVar
334493287738Uncertain_significanceThree_M_syndrome0.010130.00399HET Link to ClinVar
334496288042BenignThree_M_syndrome.0.41913HOM Link to ClinVar
334503287767BenignThree_M_syndrome0.202810.16414HOM Link to ClinVar
334508287769BenignThree_M_syndrome0.865450.79273HOM Link to ClinVar
193382190546BenignThree_M_syndrome
not_specified
0.864420.78335HOM Link to ClinVar
290129274366BenignThree_M_syndrome
not_specified
0.444770.35883HET Link to ClinVar
195432192593BenignCraniofacial_deafness_hand_syndrome
Waardenburg_syndrome
not_specified
0.887160.90435HOM Link to ClinVar
682627658921Benignnot_provided..HET Link to ClinVar
682628658799Benignnot_provided..HET Link to ClinVar
669505658844Benignnot_provided..HET Link to ClinVar
682635658926Benignnot_provided..HET Link to ClinVar
334570285544BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.99561HET Link to ClinVar
334588284901Likely_benignPseudohypoaldosteronism_type_1_autosomal_dominant.0.0012HET Link to ClinVar
683328658689Benignnot_provided..HET Link to ClinVar
682798658805Benignnot_provided..HET Link to ClinVar
254978250620BenignAlport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified
.0.23023HET Link to ClinVar
254996250625BenignAlport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified
not_provided
0.830220.79673HOM Link to ClinVar
255001250626BenignAlport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified
not_provided
0.83040.79633HOM Link to ClinVar
255009250631Benignnot_specified0.027450.01418HET Link to ClinVar
255010250632Benign/Likely_benignAlport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified
0.166750.11582HET Link to ClinVar
254985250642BenignAlport_syndrome
Alport_syndrome_3,_autosomal_dominant
Alport_syndrome,_autosomal_recessive
not_specified
not_provided
0.469450.39996HOM Link to ClinVar
585521576665Benignnot_provided.1HOM Link to ClinVar
334792285112BenignAlport_syndrome.0.72903HOM Link to ClinVar
334799288476BenignAlport_syndrome.0.84764HOM Link to ClinVar
334808288077BenignAlport_syndrome.0.26897HOM Link to ClinVar
334809288078BenignAlport_syndrome.0.91613HOM Link to ClinVar
334817288490BenignAlport_syndrome.0.91613HOM Link to ClinVar
334821285135BenignAlport_syndrome.1HOM Link to ClinVar
684244658703Benignnot_provided..HOM Link to ClinVar
684246658849Benignnot_provided..HOM Link to ClinVar
684251658845Benignnot_provided..HOM Link to ClinVar
684252658716Benignnot_provided..HOM Link to ClinVar
334834285141BenignThiamine_Metabolism_Dysfunction_Syndrome.0.99701HOM Link to ClinVar
215155210790BenignBiotin-thiamine-responsive_basal_ganglia_disease
not_specified
Thiamine_Metabolism_Dysfunction_Syndrome
not_provided
..HOM Link to ClinVar
683857658746Benignnot_provided..HOM Link to ClinVar
369332353561BenignThiamine_Metabolism_Dysfunction_Syndrome.0.53554HOM Link to ClinVar
334896288165Benign/Likely_benignHepatic_venoocclusive_disease_with_immunodeficiency
not_specified
0.100230.07887HET Link to ClinVar
334898288166Benign/Likely_benignHepatic_venoocclusive_disease_with_immunodeficiency
not_specified
.0.06809HET Link to ClinVar
334902288174BenignHepatic_venoocclusive_disease_with_immunodeficiency
not_specified
0.425640.32488HET Link to ClinVar
553920578BenignMycobacterium_tuberculosis,_susceptibility_to
not_specified
.0.90395HOM Link to ClinVar
334909288178BenignHepatic_venoocclusive_disease_with_immunodeficiency
not_specified
0.708720.80252HET Link to ClinVar
334911288179BenignHepatic_venoocclusive_disease_with_immunodeficiency
not_specified
0.210780.15915HET Link to ClinVar
334912285894BenignHepatic_venoocclusive_disease_with_immunodeficiency
not_specified
0.237880.22883HET Link to ClinVar
403465389491Benignnot_specified0.909070.95108HOM Link to ClinVar
767868697393Benignnot_provided..HOM Link to ClinVar
128957134404Benignnot_specified0.98320.96266HOM Link to ClinVar
677180655432Benignnot_provided..HET Link to ClinVar
677181655433Benignnot_provided..HET Link to ClinVar
677664658970Benignnot_provided..HET Link to ClinVar
801911790211BenignMultiple_pterygium_syndrome_Escobar_type..HOM Link to ClinVar
194064191227Benign/Likely_benignMultiple_pterygium_syndrome_Escobar_type
not_specified
0.186940.15196HET Link to ClinVar
335021288732Likely_benignMultiple_pterygium_syndrome_Escobar_type.0.15735HET Link to ClinVar
335023288738Likely_benignMultiple_pterygium_syndrome_Escobar_type.0.15515HET Link to ClinVar
335026285970Likely_benignMultiple_pterygium_syndrome_Escobar_type..HET Link to ClinVar
335029288739Uncertain_significanceLeber_congenital_amaurosis.0.00499HET Link to ClinVar
518337508778BenignParkinson_disease_110.635130.60523HOM Link to ClinVar
518340508781BenignParkinson_disease_110.644950.63998HOM Link to ClinVar
113016169BenignInflammatory_bowel_disease_10,_susceptibility_to
not_specified
0.45780.39597HET Link to ClinVar
167635178039Benignnot_specified0.44060.36681HET Link to ClinVar
335069288347Benign/Likely_benignOguchi's_disease
Retinitis_Pigmentosa,_Recessive
not_provided
0.101470.10623HET Link to ClinVar
194606191769BenignOguchi's_disease
not_specified
Retinitis_Pigmentosa,_Recessive
0.390920.30292HET Link to ClinVar
225993227745drug_responseSN-38_response_-_Other..HET Link to ClinVar
440384434018Uncertain_significancenot_specified.0.29772HET Link to ClinVar
440385434019Benignnot_specified.0.29732HET Link to ClinVar
440386434020Benignnot_specified0.588050.57628HET Link to ClinVar
440389434023Benignnot_specified0.351290.29772HET Link to ClinVar
440378434012Benignnot_specified0.39010.36222HET Link to ClinVar
440379434013Benignnot_specified0.351850.34265HET Link to ClinVar
440381434015Benignnot_specified0.313330.27756HET Link to ClinVar
440380434014Benignnot_specified0.345670.32468HET Link to ClinVar
1228827327BenignGilbert's_syndrome
Gilbert_syndrome,_susceptibility_to
not_specified
.0.58806HET Link to ClinVar
810732798981Likely_benignGilbert's_syndrome..HET Link to ClinVar
226029227747drug_responseatazanavir_response_-_Other.0.35403HET Link to ClinVar
1228927328Benign,_associationGilbert's_syndrome
Bilirubin,_serum_level_of,_quantitative_trait_locus_1
.0.34764HET Link to ClinVar
810733798982BenignGilbert's_syndrome..HET Link to ClinVar
335084285391BenignCrigler-Najjar_syndrome
Gilbert's_syndrome
Lucey-Driscoll_syndrome
.0.7524HOM Link to ClinVar
335085288359BenignCrigler-Najjar_syndrome
Gilbert's_syndrome
Lucey-Driscoll_syndrome
.0.82109HOM Link to ClinVar
335086288783BenignCrigler-Najjar_syndrome
Gilbert's_syndrome
Lucey-Driscoll_syndrome
.0.74501HOM Link to ClinVar
779327708124Benignnot_provided..HET Link to ClinVar
335089285394BenignCollagen_VI-related_myopathy.0.6879HET Link to ClinVar
335091286060BenignCollagen_VI-related_myopathy.0.15555HET Link to ClinVar
94900100800BenignCollagen_VI-related_myopathy
not_specified
.0.20986HET Link to ClinVar
95022100922Benignnot_specified
not_provided
0.29080.22963HET Link to ClinVar
95018100918BenignCollagen_VI-related_myopathy
not_specified
0.38840.34625HOM Link to ClinVar
95014100914BenignCollagen_VI-related_myopathy
not_specified
0.772880.79233HOM Link to ClinVar
679240658901Benignnot_provided..HOM Link to ClinVar
95008100908BenignCollagen_VI-related_myopathy
not_specified
0.638620.63658HOM Link to ClinVar
94998100898BenignCollagen_VI-related_myopathy
not_specified
0.398750.34245HOM Link to ClinVar
94968100868BenignBethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified
0.548920.55431HOM Link to ClinVar
679237658999Benignnot_provided..HOM Link to ClinVar
668109658790Benignnot_provided..HET Link to ClinVar
681264659005Benignnot_provided..HET Link to ClinVar
679231658801Benignnot_provided..HET Link to ClinVar
679230658939Benignnot_provided..HET Link to ClinVar
679229658806Benignnot_provided..HOM Link to ClinVar
94962100862BenignBethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified
0.212890.33087HET Link to ClinVar
668108659007Benignnot_provided..HET Link to ClinVar
680754658818Benignnot_provided..HET Link to ClinVar
668107658941Benignnot_provided..HET Link to ClinVar
94950100850BenignCollagen_VI-related_myopathy
not_specified
..HET Link to ClinVar
680753659010Benignnot_provided..HET Link to ClinVar
94936100836BenignCollagen_VI-related_myopathy
not_specified
.0.26558HET Link to ClinVar
94933100833BenignCollagen_VI-related_myopathy
not_specified
0.288880.38838HET Link to ClinVar
668106658832Benignnot_provided..HET Link to ClinVar
94921100821BenignCollagen_VI-related_myopathy
not_specified
0.232710.21586HET Link to ClinVar
679227658833Benignnot_provided..HET Link to ClinVar
380807367109Benignnot_specified.0.27017HET Link to ClinVar
801915790215BenignBrachydactyly-Mental_Retardation_syndrome..HET Link to ClinVar
335152285460Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.59045HOM Link to ClinVar
335156286135Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.25579HOM Link to ClinVar
335174288875Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.50839HOM Link to ClinVar
335183286170Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.28674HOM Link to ClinVar
335193288898Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.2494HOM Link to ClinVar
214702210797Benign/Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
..HOM Link to ClinVar
669885659026Benignnot_provided..HOM Link to ClinVar
129686135132Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
0.406440.35623HOM Link to ClinVar
669507658965Benignnot_provided..HOM Link to ClinVar
669869658960Benignnot_provided..HOM Link to ClinVar
129685135131Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
0.666260.70248HOM Link to ClinVar
669506659031Benignnot_provided..HOM Link to ClinVar
767876697464Benignnot_provided..HET Link to ClinVar
509320132risk_factorDiabetes_mellitus_type_2.0.1855HET Link to ClinVar
335233286218Likely_benignHereditary_sensory_and_autonomic_neuropathy_type_II
Intellectual_Disability,_Dominant
Spastic_Paraplegia,_Recessive
.0.38878HET Link to ClinVar
335240288531Likely_benignHereditary_sensory_and_autonomic_neuropathy_type_II
Intellectual_Disability,_Dominant
Spastic_Paraplegia,_Recessive
.0.27236HET Link to ClinVar
670495659052Benignnot_provided..HET Link to ClinVar
682847658972Benignnot_provided..HET Link to ClinVar
671426658981Benignnot_provided..HET Link to ClinVar
670535659071Benignnot_provided..HOM Link to ClinVar
682843658996Benignnot_provided..HET Link to ClinVar
672932658876Benignnot_provided..HET Link to ClinVar
129389134835Benign/Likely_benignHereditary_sensory_and_autonomic_neuropathy_type_II
History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Dominant
Spastic_Paraplegia,_Recessive
.0.05032HET Link to ClinVar
672931659075Benignnot_provided..HET Link to ClinVar
672930659079Benignnot_provided..HET Link to ClinVar
284274268511Benignnot_specified..HOM Link to ClinVar
672929658887Benignnot_provided..HET Link to ClinVar
672928658992Benignnot_provided..HET Link to ClinVar
671033659008Benignnot_provided..HET Link to ClinVar
683895659084Benignnot_provided..HET Link to ClinVar
682831659017Benignnot_provided..HET Link to ClinVar
129396134842Benign/Likely_benignHereditary_sensory_and_autonomic_neuropathy_type_II
History_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Dominant
Spastic_Paraplegia,_Recessive
0.386230.51358HET Link to ClinVar
672669659090Benignnot_provided..HOM Link to ClinVar
674082659064Likely_benignnot_provided..HOM Link to ClinVar
673387658923Benignnot_provided..HET Link to ClinVar
204033200480Uncertain_significancePrimary_hyperoxaluria,_type_I..HOM Link to ClinVar
204041200508Uncertain_significancePrimary_hyperoxaluria,_type_I.0.23982HOM Link to ClinVar
204054200569Uncertain_significancePrimary_hyperoxaluria,_type_I0.482230.34325HET Link to ClinVar
204057200584Uncertain_significancePrimary_hyperoxaluria,_type_I.0.2522HOM Link to ClinVar
204063200610BenignPrimary_hyperoxaluria
Primary_hyperoxaluria,_type_I
0.35720.2522HOM Link to ClinVar
204064200611BenignPrimary_hyperoxaluria
Primary_hyperoxaluria,_type_I
.0.71985HOM Link to ClinVar
335307285583BenignD-2-hydroxyglutaric_aciduria.0.72444HET Link to ClinVar
158414168055Benign/Likely_benignD-2-hydroxyglutaric_aciduria
not_specified
not_provided
.0.22644HET Link to ClinVar
158415168057Likely_benignnot_specified0.684320.74241HET Link to ClinVar
158417168059Likely_benignnot_specified.0.5647HOM Link to ClinVar
158421168061Likely_benignnot_specified0.251550.23702HET Link to ClinVar
158423168063Benign/Likely_benignD-2-hydroxyglutaric_aciduria
not_specified
not_provided
0.488360.5611HOM Link to ClinVar
801922790222BenignD-2-hydroxyglutaric_aciduria_1..HOM Link to ClinVar
158404168064Benign/Likely_benignD-2-hydroxyglutaric_aciduria
not_specified
not_provided
0.248860.22364HET Link to ClinVar
158411168071Likely_benignnot_specified0.529430.62999HOM Link to ClinVar
335332289020Likely_benignD-2-hydroxyglutaric_aciduria.0.09844HET Link to ClinVar
335338285603BenignD-2-hydroxyglutaric_aciduria.0.53295HET Link to ClinVar
335349288640BenignD-2-hydroxyglutaric_aciduria.0.23263HET Link to ClinVar
767883777335Benignnot_provided..HET Link to ClinVar
402550389529Benignnot_specified0.444930.48343HET Link to ClinVar
669583659840Benignnot_provided..HET Link to ClinVar
403570389592BenignSideroblastic_anemia_with_B-cell_immunodeficiency,_periodic_fevers,_and_developmental_delay
not_specified
0.972230.90455HOM Link to ClinVar
676433659841Benignnot_provided..HET Link to ClinVar
684282659968Benignnot_provided..HOM Link to ClinVar
669584659744Benignnot_provided..HET Link to ClinVar
671437659756Benignnot_provided..HET Link to ClinVar
684283659849Benignnot_provided..HET Link to ClinVar
671438659670Benignnot_provided..HET Link to ClinVar
684284659671Benignnot_provided..HOM Link to ClinVar
684285659970Benignnot_provided..HOM Link to ClinVar
671605659853Benignnot_provided..HET Link to ClinVar
684287659684Benignnot_provided..HOM Link to ClinVar
669585659974Benignnot_provided..HET Link to ClinVar
380145367091Benignnot_specified0.798640.73902HET Link to ClinVar
380146367093Benignnot_specified0.5430.40076HET Link to ClinVar
128855134303Benignnot_specified0.967280.88379HOM Link to ClinVar
345295294907BenignMultiple_sulfatase_deficiency.0.48163HOM Link to ClinVar
345303291214BenignMultiple_sulfatase_deficiency.0.88019HOM Link to ClinVar
345304294486BenignMultiple_sulfatase_deficiency..HET Link to ClinVar
345308294930BenignMultiple_sulfatase_deficiency.0.42812HET Link to ClinVar
345310291220BenignMultiple_sulfatase_deficiency.0.29553HET Link to ClinVar
345312291221BenignMultiple_sulfatase_deficiency.0.70447HET Link to ClinVar
558943549550Benignnot_specified
not_provided
..HET Link to ClinVar
96559102452BenignMultiple_sulfatase_deficiency
not_specified
not_provided
0.644050.76038HET Link to ClinVar
684132660029Benignnot_provided..HET Link to ClinVar
684125659939Benignnot_provided..HOM Link to ClinVar
684119659879Benignnot_provided..HOM Link to ClinVar
263009251142Benignnot_specified
not_provided
0.961740.88678HOM Link to ClinVar
129298134744BenignSpinocerebellar_ataxia_29
not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.683230.61402HET Link to ClinVar
804939793026Benignnot_provided..HOM Link to ClinVar
129301134747Benignnot_specified
Spinocerebellar_Ataxia,_Dominant
0.329420.24561HET Link to ClinVar
129302134748Benignnot_specified
Spinocerebellar_Ataxia,_Dominant
0.286810.26458HET Link to ClinVar
129303134749Benignnot_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.824420.79094HET Link to ClinVar
129304134750Benignnot_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.605450.58746HET Link to ClinVar
345905295090Likely_benignSpinocerebellar_Ataxia,_Dominant.0.01018HET Link to ClinVar
345929295184BenignSpinocerebellar_Ataxia,_Dominant.0.26877HOM Link to ClinVar
683301660042Benignnot_provided..HET Link to ClinVar
3174640406not_providednot_provided.0.22404HET Link to ClinVar
3170940369Benign/Likely_benignHypertrophic_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
0.301040.37101HET Link to ClinVar
3170640366Likely_benignHypertrophic_cardiomyopathy
Long_QT_syndrome
Romano-Ward_syndrome
Caveolinopathy
Limb-Girdle_Muscular_Dystrophy,_Dominant
not_provided
.0.34824HET Link to ClinVar
3172040380Likely_benignHypertrophic_cardiomyopathy
Long_QT_syndrome
Romano-Ward_syndrome
Caveolinopathy
Limb-Girdle_Muscular_Dystrophy,_Dominant
not_provided
.0.27157HET Link to ClinVar
3170740367Likely_benignHypertrophic_cardiomyopathy
Long_QT_syndrome
Romano-Ward_syndrome
Caveolinopathy
Limb-Girdle_Muscular_Dystrophy,_Dominant
not_provided
.0.32268HET Link to ClinVar
3172740387not_providednot_provided.0.83666HOM Link to ClinVar
342394291624BenignFanconi_anemia.0.20607HOM Link to ClinVar
257063250849Benignnot_specified0.328130.21466HOM Link to ClinVar
342397291569BenignVon_Hippel-Lindau_syndrome.0.54333HOM Link to ClinVar
342407287967BenignVon_Hippel-Lindau_syndrome.0.55711HOM Link to ClinVar
342424287980BenignVon_Hippel-Lindau_syndrome.0.58467HOM Link to ClinVar
342425291585BenignVon_Hippel-Lindau_syndrome.0.55671HOM Link to ClinVar
342451287987BenignVon_Hippel-Lindau_syndrome.0.98802HOM Link to ClinVar
342459291602BenignVon_Hippel-Lindau_syndrome.0.54892HOM Link to ClinVar
342491288023BenignVon_Hippel-Lindau_syndrome.0.88998HOM Link to ClinVar
342512288779BenignVon_Hippel-Lindau_syndrome.0.97105HOM Link to ClinVar
506220101Pathogenic,_risk_factorMetabolic_syndrome,_susceptibility_to
Obesity,_age_at_onset_of
0.085570.08327HET Link to ClinVar
343059292416BenignPontoneocerebellar_hypoplasia.0.45447HOM Link to ClinVar
667568659464Benignnot_provided..HOM Link to ClinVar
670254659478Benignnot_provided..HET Link to ClinVar
670802659482Benignnot_provided..HET Link to ClinVar
343086292284BenignPontoneocerebellar_hypoplasia.0.42193HET Link to ClinVar
343092289310Uncertain_significanceNoonan_syndrome
Noonan_syndrome_with_multiple_lentigines
... Link to ClinVar
4062449094Benignnot_specified0.350430.36462HET Link to ClinVar
561371552548Benignnot_provided.0.17832HET Link to ClinVar
561370552550Benignnot_provided.0.34465HET Link to ClinVar
561369552551Benignnot_provided.0.18051HET Link to ClinVar
561823552553Benignnot_provided.0.53854HET Link to ClinVar
561368552556Benignnot_provided.0.53854HET Link to ClinVar
561588552561Benignnot_provided.0.19449HET Link to ClinVar
561367552569Benignnot_provided.0.19469HET Link to ClinVar
561587552571Benignnot_provided.0.17332HET Link to ClinVar
561522552573Benignnot_provided.0.19449HET Link to ClinVar
679865659746Benignnot_provided..HET Link to ClinVar
672164659555Benignnot_provided..HET Link to ClinVar
672172659554Benignnot_provided..HET Link to ClinVar
669015659751Benignnot_provided..HET Link to ClinVar
672173659564Benignnot_provided..HET Link to ClinVar
671030659662Benignnot_provided..HET Link to ClinVar
4614855313Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
not_specified
Cardiovascular_phenotype
0.320870.35264HET Link to ClinVar
4615055315Benign/Likely_benignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5
not_specified
Cardiovascular_phenotype
0.372370.46326HET Link to ClinVar
671031659571Benignnot_provided..HET Link to ClinVar
672174659764Benignnot_provided..HOM Link to ClinVar
672175659771Benignnot_provided..HOM Link to ClinVar
671209659780Benignnot_provided..HET Link to ClinVar
343511288952Benign/Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
.0.6891HOM Link to ClinVar
343518288959Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
.0.09265HET Link to ClinVar
343523288962Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
.0.12999HET Link to ClinVar
343535292665Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
.0.10483HET Link to ClinVar
343536289712Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
.0.13059HET Link to ClinVar
343550292973Benign/Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
.0.91893HOM Link to ClinVar
343551288985Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
0.128790.10783HET Link to ClinVar
343552288989Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
.0.10823HET Link to ClinVar
343560289736Benign/Likely_benignXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
Xeroderma_pigmentosum,_group_C
0.353320.25499HET Link to ClinVar
190215187973drug_responseXeroderma_pigmentosum
Arrhythmogenic_right_ventricular_cardiomyopathy
not_specified
cisplatin_response_-_Toxicity/ADR
0.632540.6847HOM Link to ClinVar
259471250965Benignnot_specified0.646680.69429HOM Link to ClinVar
259470250966Benignnot_specified0.473170.32788HOM Link to ClinVar
190214187976BenignXeroderma_pigmentosum
not_specified
not_provided
0.630160.67971HOM Link to ClinVar
259469250967Benignnot_specified.0.32788HOM Link to ClinVar
135469139208BenignXeroderma_pigmentosum
not_specified
0.273410.23542HET Link to ClinVar
190212187977Benignnot_specified11HOM Link to ClinVar
135485139224BenignXeroderma_pigmentosum
not_specified
0.237750.23303HET Link to ClinVar
259472250973Benignnot_specified0.321530.35563HET Link to ClinVar
259465250975BenignXeroderma_pigmentosum
not_specified
0.421090.32788HOM Link to ClinVar
343823293420BenignCongenital_Myasthenic_Syndrome,_Recessive.0.38858HET Link to ClinVar
343828293014BenignCongenital_Myasthenic_Syndrome,_Recessive.0.38858HET Link to ClinVar
343835289150Likely_benignCongenital_Myasthenic_Syndrome,_Recessive.0.0617HET Link to ClinVar
343839293024BenignCongenital_Myasthenic_Syndrome,_Recessive.0.45288HOM Link to ClinVar
343840289955BenignCongenital_Myasthenic_Syndrome,_Recessive.0.48023HOM Link to ClinVar
128825134274Benign/Likely_benignEndplate_acetylcholinesterase_deficiency
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
0.029750.01518HET Link to ClinVar
679264659854Benignnot_provided..HET Link to ClinVar
679263659641Benignnot_provided..HET Link to ClinVar
668111659646Benignnot_provided..HET Link to ClinVar
679262659856Benignnot_provided..HET Link to ClinVar
679261659648Benignnot_provided..HET Link to ClinVar
128827134276Benign/Likely_benignEndplate_acetylcholinesterase_deficiency
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
.0.05252HET Link to ClinVar
679260659858Benignnot_provided..HET Link to ClinVar
679259659866Benignnot_provided..HET Link to ClinVar
801939790344BenignEndplate_acetylcholinesterase_deficiency..HET Link to ClinVar
259862250990Benignnot_specified
not_provided
0.431390.47963HOM Link to ClinVar
679257659623Benignnot_provided..HOM Link to ClinVar
259860250992Benignnot_specified
not_provided
0.382520.38598HET Link to ClinVar
679255659867Benignnot_provided..HET Link to ClinVar
259859250993Benignnot_specified
not_provided
0.466520.38598HET Link to ClinVar
679253659628Benignnot_provided..HOM Link to ClinVar
259857250994Benignnot_specified
not_provided
0.455990.40236HET Link to ClinVar
679251659632Benignnot_provided..HOM Link to ClinVar
679250659873Benignnot_provided..HET Link to ClinVar
679249659875Benignnot_provided..HET Link to ClinVar
679247659635Benignnot_provided..HET Link to ClinVar
679246659754Benignnot_provided..HET Link to ClinVar
128826134275Benign/Likely_benignEndplate_acetylcholinesterase_deficiency
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
0.031920.03574HET Link to ClinVar
668110659757Benignnot_provided..HET Link to ClinVar
679245659878Benignnot_provided..HOM Link to ClinVar
679244659886Benignnot_provided..HET Link to ClinVar
369412353641BenignCongenital_Myasthenic_Syndrome,_Recessive.0.42013HET Link to ClinVar
190016939Pathogenic/Likely_pathogenicBiotinidase_deficiency
not_provided
0.031660.01857HET Link to ClinVar
344532289816BenignThyroid_Hormone_Resistance.0.19449HET Link to ClinVar
344533289819BenignThyroid_Hormone_Resistance.0.14237HET Link to ClinVar
344545290576BenignThyroid_Hormone_Resistance.0.48023HET Link to ClinVar
344584294308BenignThyroid_Hormone_Resistance.0.12979HET Link to ClinVar
344586289852BenignThyroid_Hormone_Resistance..HET Link to ClinVar
344613293766BenignThyroid_Hormone_Resistance.0.50539HET Link to ClinVar
198422195583BenignThyroid_Hormone_Resistance
not_specified
0.155550.15755HET Link to ClinVar
344640293815BenignThyroid_Hormone_Resistance..HET Link to ClinVar
198889196049Benignnot_specified0.840450.80032HOM Link to ClinVar
774296698018Benignnot_provided..HET Link to ClinVar
344653290674BenignMarfan_syndrome
Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
not_provided
.0.1262HET Link to ClinVar
683997659943Benignnot_provided..HOM Link to ClinVar
684002659667Benignnot_provided..HOM Link to ClinVar
684003659732Benignnot_provided..HET Link to ClinVar
678626659737Benignnot_provided..HOM Link to ClinVar
161394171083Conflicting_interpretations_of_pathogenicityConnective_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
344681293839BenignMarfan_syndrome
Loeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.11482HET Link to ClinVar
380173367350Benignnot_specified0.068490.03714HET Link to ClinVar
683540659761Benignnot_provided..HOM Link to ClinVar
671016659862Benignnot_provided..HOM Link to ClinVar
260571251091Benign/Likely_benignBrugada_syndrome
not_specified
Cardiovascular_phenotype
not_provided
0.128590.14976HOM Link to ClinVar
678494659863Benignnot_provided..HOM Link to ClinVar
671832659705Benignnot_provided..HOM Link to ClinVar
671834659706Benignnot_provided..HOM Link to ClinVar
678496659770Benignnot_provided..HET Link to ClinVar
671835659709Benignnot_provided..HET Link to ClinVar
672397659776Benignnot_provided..HET Link to ClinVar
344741289976Likely_benignBrugada_syndrome.0.09365HET Link to ClinVar
344742293909Likely_benignBrugada_syndrome.0.07768HET Link to ClinVar
344745294385Likely_benignBrugada_syndrome.0.09645HET Link to ClinVar
344747294388Likely_benignBrugada_syndrome.0.59844HET Link to ClinVar
344750289987Likely_benignBrugada_syndrome.0.501HET Link to ClinVar
344764289999Likely_benignBrugada_syndrome.0.55431HET Link to ClinVar
344771294397Likely_benignBrugada_syndrome.0.57029HET Link to ClinVar
344773290755Likely_benignBrugada_syndrome.0.57029HET Link to ClinVar
167145177749Benignnot_specified0.980040.92712HOM Link to ClinVar
558920549548Likely_benignnot_provided.0.00359HET Link to ClinVar
678119659781Benignnot_provided..HOM Link to ClinVar
678118659984Benignnot_provided..HOM Link to ClinVar
677897659724Benignnot_provided..HOM Link to ClinVar
678493659990Benignnot_provided..HOM Link to ClinVar
678066659883Benignnot_provided..HET Link to ClinVar
678065659991Benignnot_provided..HOM Link to ClinVar
9290598812BenignMorquio_syndrome
GM1_gangliosidosis
not_specified
not_provided
0.905160.92772HOM Link to ClinVar
9290498811BenignMorquio_syndrome
GM1_gangliosidosis
not_specified
not_provided
.0.43191HET Link to ClinVar
674862659728Benignnot_provided..HOM Link to ClinVar
193339190503BenignOsteogenesis_imperfecta_type_7
not_specified
Osteogenesis_Imperfecta,_Recessive
0.218740.249HET Link to ClinVar
667634659729Benignnot_provided..HOM Link to ClinVar
669818659735Benignnot_provided..HET Link to ClinVar
195265192426BenignOsteogenesis_imperfecta_type_7
not_specified
Osteogenesis_Imperfecta,_Recessive
0.170370.28235HET Link to ClinVar
379754367110Benignnot_specified0.003910.0022HET Link to ClinVar
674863659993Benignnot_provided..HOM Link to ClinVar
259968251097BenignOsteogenesis_imperfecta_type_7
not_specified
Osteogenesis_Imperfecta,_Recessive
.0.29353HET Link to ClinVar
259969251098BenignOsteogenesis_imperfecta_type_7
not_specified
Osteogenesis_Imperfecta,_Recessive
0.37510.29353HET Link to ClinVar
667635659995Benignnot_provided..HOM Link to ClinVar
667636659740Benignnot_provided..HOM Link to ClinVar
674864659753Benignnot_provided..HOM Link to ClinVar
675028659762Benignnot_provided..HET Link to ClinVar
344831294471BenignOsteogenesis_Imperfecta,_Recessive..HET Link to ClinVar
344838290810BenignOsteogenesis_Imperfecta,_Recessive.0.30192HET Link to ClinVar
344843293982BenignOsteogenesis_Imperfecta,_Recessive.0.89597HOM Link to ClinVar
344851294489BenignOsteogenesis_Imperfecta,_Recessive.0.36102HET Link to ClinVar
344869290109BenignOsteogenesis_Imperfecta,_Recessive.0.31989HET Link to ClinVar
344875290115BenignOsteogenesis_Imperfecta,_Recessive.0.30371HET Link to ClinVar
8959495068BenignLynch_syndrome.0.40395HET Link to ClinVar
8960095074BenignHereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_II
not_specified
.0.32049HET Link to ClinVar
9002495498BenignLynch_syndrome.0.30871HET Link to ClinVar
9014695620BenignLynch_syndrome.0.24501HET Link to ClinVar
9022795701BenignLynch_syndrome
not_specified
.0.30931HET Link to ClinVar
3655745219BenignHereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_II
Lynch_syndrome_I
not_specified
not_provided
0.232540.12959HET Link to ClinVar
9036695840BenignLynch_syndrome.0.30931HET Link to ClinVar
9036895842BenignLynch_syndrome.0.24501HET Link to ClinVar
8961595089BenignLynch_syndrome.0.30931HET Link to ClinVar
8961195085BenignLynch_syndrome.0.29014HET Link to ClinVar
8962595099BenignLynch_syndrome
not_specified
.0.24641HET Link to ClinVar
8977395247BenignLynch_syndrome.0.2532HET Link to ClinVar
8978595259BenignLynch_syndrome.0.24521HET Link to ClinVar
8983095304BenignLynch_syndrome.0.26298HET Link to ClinVar
3654245204BenignHereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_II
not_specified
0.371250.3123HET Link to ClinVar
8998395457BenignLynch_syndrome
not_specified
.0.30391HET Link to ClinVar
8958595059BenignLynch_syndrome.0.39697HET Link to ClinVar
402987389600Benignnot_specified0.572510.53275HET Link to ClinVar
402989389568Benignnot_specified0.572780.5591HET Link to ClinVar
257468251100BenignHeterotaxia
Heterotaxy,_visceral,_4,_autosomal
not_specified
0.56830.48043HET Link to ClinVar
257470251101BenignHeterotaxia
Heterotaxy,_visceral,_4,_autosomal
not_specified
0.485310.35643HET Link to ClinVar
257467251104BenignHeterotaxia
Heterotaxy,_visceral,_4,_autosomal
not_specified
0.485080.35324HET Link to ClinVar
344937290945BenignHeterotaxia.0.35344HET Link to ClinVar
344939294052BenignHeterotaxia.0.61022HET Link to ClinVar
344940290157BenignHeterotaxia.0.35224HET Link to ClinVar
344943294576BenignHeterotaxia..HET Link to ClinVar
344967290957BenignHeterotaxia.0.38578HET Link to ClinVar
344974290185BenignHeterotaxia.0.61621HET Link to ClinVar
344981294662BenignHeterotaxia.0.35324HET Link to ClinVar
344991294205BenignHeterotaxia.0.61082HET Link to ClinVar
344995290974BenignHeterotaxia.0.35324HET Link to ClinVar
344996290975BenignHeterotaxia.0.32188HET Link to ClinVar
345010294237BenignHeterotaxia.0.44728HET Link to ClinVar
345025294684BenignHeterotaxia.0.35324HET Link to ClinVar
345032290212BenignHeterotaxia.0.44728HET Link to ClinVar
345077294718Likely_benignSick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
Progressive_familial_heart_block
Dilated_Cardiomyopathy,_Dominant
.0.31689HET Link to ClinVar
345092291055Likely_benignSick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
Progressive_familial_heart_block
Dilated_Cardiomyopathy,_Dominant
.0.11442HET Link to ClinVar
345108294382Likely_benignSick_sinus_syndrome
Long_QT_syndrome
Romano-Ward_syndrome
Paroxysmal_familial_ventricular_fibrillation
Brugada_syndrome
Progressive_familial_heart_block
Dilated_Cardiomyopathy,_Dominant
.0.49441HET Link to ClinVar
4830757470Benign/Likely_benignArrhythmia
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
0.387810.49241HET Link to ClinVar
680772659791Benignnot_provided..HET Link to ClinVar
680800659801Benignnot_provided..HET Link to ClinVar
671861659799Benignnot_provided..HET Link to ClinVar
680771659902Benignnot_provided..HET Link to ClinVar
4829757460Benign/Likely_benignArrhythmia
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
.0.92312HOM Link to ClinVar
671859659814Benignnot_provided..HOM Link to ClinVar
671843660041Benignnot_provided... Link to ClinVar
678034659913Benignnot_provided..HOM Link to ClinVar
678033659809Benignnot_provided..HOM Link to ClinVar
4828938447Benign/Likely_benignArrhythmia
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
0.221740.23043HET Link to ClinVar
257437251108Benignnot_specified0.219160.17512HET Link to ClinVar
678604659916Benignnot_provided..HET Link to ClinVar
4828057444Benign/Likely_benignArrhythmia
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
0.172230.15116HET Link to ClinVar
671842659848Benignnot_provided..HET Link to ClinVar
671841659919Benignnot_provided..HOM Link to ClinVar
680765659859Benignnot_provided..HOM Link to ClinVar
671840660060Benignnot_provided..HOM Link to ClinVar
671839660066Benignnot_provided..HOM Link to ClinVar
680768659824Benignnot_provided..HET Link to ClinVar
678603659928Benignnot_provided..HET Link to ClinVar
4831857481Benign/Likely_benignArrhythmia
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
0.773670.78175HOM Link to ClinVar
259999251110BenignBrugada_syndrome_1
not_specified
11HOM Link to ClinVar
95404101303Benignnot_specified0.919910.92472HOM Link to ClinVar
669293659827Benignnot_provided..HOM Link to ClinVar
259996251113Benignnot_specified0.658560.75799HET Link to ClinVar
259994251115Benignnot_specified0.234960.1905HET Link to ClinVar
95401101300Benignnot_specified0.240930.21066HET Link to ClinVar
669327660090Benignnot_provided..HET Link to ClinVar
259993251116Benignnot_specified0.653680.75779HET Link to ClinVar
259992251117Benignnot_specified0.243020.20767HET Link to ClinVar
668846659958Benignnot_provided..HET Link to ClinVar
259991251118Benignnot_specified0.234380.20747HET Link to ClinVar
669276659898Benignnot_provided..HET Link to ClinVar
260000251119Benignnot_specified0.329870.38878HET Link to ClinVar
670898659844Benignnot_provided..HET Link to ClinVar
260336251120Benignnot_specified0.55750.59944HET Link to ClinVar
260335251121Benignnot_specified.0.15355HET Link to ClinVar
260334251122Benignnot_specified0.651450.61242HET Link to ClinVar
24280123191..0.220930.14437HET Link to ClinVar
721354734051Likely_benignnot_provided..HET Link to ClinVar
281680265917BenignRefractory_anemia_with_ringed_sideroblasts_(clinical)
Anemia,_sideroblastic,_1
not_specified
0.481990.41613HOM Link to ClinVar
671096660003Benignnot_provided..HOM Link to ClinVar
403583389614Benignnot_specified0.851230.87001HOM Link to ClinVar
403584389585Benignnot_specified0.788480.6885HOM Link to ClinVar
403585389558Benignnot_specified0.976950.91933HOM Link to ClinVar
403586389570Benignnot_specified0.77850.6881HOM Link to ClinVar
403587389595Benignnot_specified0.976890.91893HOM Link to ClinVar
403588389560Benignnot_specified0.954640.69808HOM Link to ClinVar
403589389621Benignnot_specified.0.68131HOM Link to ClinVar
403590389563Benignnot_specified0.784740.67991HOM Link to ClinVar
403591389597Benignnot_specified0.786940.68211HOM Link to ClinVar
226688229062Benignnot_specified0.648850.6226HET Link to ClinVar
682890659937Benignnot_provided..HET Link to ClinVar
682889659874Benignnot_provided..HET Link to ClinVar
226689229063Benignnot_specified0.816770.89976HOM Link to ClinVar
262104251133Benignnot_specified0.786020.78275HOM Link to ClinVar
262102251138Benignnot_specified.0.45248HOM Link to ClinVar
128388133837Benign/Likely_benignSpinocerebellar_ataxia,_autosomal_recessive_10
not_specified
Autosomal_recessive_cerebellar_ataxia
0.047930.03694HET Link to ClinVar
128387133836BenignSpinocerebellar_ataxia,_autosomal_recessive_10
not_specified
Autosomal_recessive_cerebellar_ataxia
not_provided
0.65050.66314HET Link to ClinVar
260993251139BenignSpinocerebellar_ataxia,_autosomal_recessive_10
not_specified
Autosomal_recessive_cerebellar_ataxia
not_provided
0.684960.63678HET Link to ClinVar
128386133835Benign/Likely_benignSpinocerebellar_ataxia,_autosomal_recessive_10
not_specified
Autosomal_recessive_cerebellar_ataxia
not_provided
0.050770.04872HET Link to ClinVar
345238294528BenignTriglyceride_storage_disease_with_ichthyosis..HET Link to ClinVar
345240290409BenignTriglyceride_storage_disease_with_ichthyosis.0.54872HET Link to ClinVar
717832720454Likely_benignnot_provided..HET Link to ClinVar
684236660032Benignnot_provided..HET Link to ClinVar
684161660114Benignnot_provided..HET Link to ClinVar
684169659941Benignnot_provided..HOM Link to ClinVar
669494660117Benignnot_provided..HET Link to ClinVar
684172659891Benignnot_provided..HOM Link to ClinVar
676142660132Benignnot_provided..HOM Link to ClinVar
226691229072Benignnot_specified
not_provided
0.902570.78295HOM Link to ClinVar
684174659950Benignnot_provided..HOM Link to ClinVar
684176659951Benignnot_provided..HOM Link to ClinVar
226693229074Benignnot_specified
not_provided
.0.78275HOM Link to ClinVar
226698229079Benignnot_specified
not_provided
0.285680.24621HOM Link to ClinVar
226700229082Benignnot_specified
not_provided
0.951510.84944HOM Link to ClinVar
676144659906Benignnot_provided..HOM Link to ClinVar
226704229089Benignnot_specified
not_provided
0.957540.86082HOM Link to ClinVar
684184660178Benignnot_provided..HOM Link to ClinVar
676145660184Benignnot_provided..HET Link to ClinVar
345340291372Likely_benignHyperglycinuria.0.2482HET Link to ClinVar
345349290496Likely_benignHyperglycinuria.0.96406HOM Link to ClinVar
345365291398Likely_benignHyperglycinuria..HOM Link to ClinVar
345374291401Uncertain_significanceHyperglycinuria..HET Link to ClinVar
345387294639Likely_benignHyperglycinuria.0.96346HOM Link to ClinVar
345390290548Likely_benignHyperglycinuria0.10.04692HET Link to ClinVar
345420290570Likely_benignHyperglycinuria0.956510.94888HOM Link to ClinVar
345428294713Likely_benignHyperglycinuria0.127860.08846HET Link to ClinVar
345435295094BenignCongenital_cataract.0.92173HOM Link to ClinVar
345439290594BenignCongenital_cataract.0.40994HET Link to ClinVar
345443295105BenignCongenital_cataract..HET Link to ClinVar
345445291474BenignCongenital_cataract.0.92173HOM Link to ClinVar
345459291505BenignCongenital_cataract.0.39956HET Link to ClinVar
345469295130BenignCongenital_cataract.0.92013HOM Link to ClinVar
345481295144BenignCongenital_cataract.0.38558HET Link to ClinVar
345484291519BenignCongenital_cataract.0.8151HOM Link to ClinVar
345486294752BenignCongenital_cataract.0.94269HOM Link to ClinVar
345487295148BenignCongenital_cataract.0.40974HET Link to ClinVar
261734251149BenignCongenital_cataract
not_specified
not_provided
0.792080.86721HET Link to ClinVar
261722251159BenignCongenital_cataract
not_specified
not_provided
0.430320.39517HET Link to ClinVar
261738251164BenignCongenital_cataract
not_specified
not_provided
0.567010.53295HET Link to ClinVar
261736251166BenignCongenital_cataract
not_specified
not_provided
.0.92812HOM Link to ClinVar
261725251167BenignCongenital_cataract
not_specified
0.430510.38698HET Link to ClinVar
261723251168BenignCongenital_cataract
not_specified
not_provided
0.798930.76298HOM Link to ClinVar
818423223BenignWest_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
4796257126BenignDeafness,_autosomal_recessive_6
not_specified
..HOM Link to ClinVar
345596295275BenignMetaphyseal_chondrodysplasia
Chondrodysplasia
0.614070.64337HOM Link to ClinVar
260575251172Benignnot_specified0.582940.47224HOM Link to ClinVar
260582251179BenignGray_platelet_syndrome
not_specified
0.565670.47165HOM Link to ClinVar
345670291769Conflicting_interpretations_of_pathogenicityGray_platelet_syndrome
not_provided
0.005660.0008HET Link to ClinVar
260584251181BenignGray_platelet_syndrome
not_specified
0.987350.94928HOM Link to ClinVar
260586251183BenignGray_platelet_syndrome
not_specified
.0.47205HOM Link to ClinVar
260588251185Benignnot_specified0.561130.54653HOM Link to ClinVar
260589251186Benignnot_specified..HOM Link to ClinVar
260590251187Benignnot_specified0.298210.23403HET Link to ClinVar
345697294982BenignGray_platelet_syndrome..HOM Link to ClinVar
436678428201Likely_benignnot_specified... Link to ClinVar
135202138941Benignnot_specified
not_provided
.0.46985HOM Link to ClinVar
475524452755Benignnot_provided0.003480.001HET Link to ClinVar
586533576751Benignnot_provided0.63430.67832HOM Link to ClinVar
345769291833BenignAicardi_Goutieres_syndrome
Vasculopathy,_retinal,_with_cerebral_leukodystrophy
not_provided
.0.11482HOM Link to ClinVar
255115251191Likely_benignnot_specified..HOM Link to ClinVar
255108251198BenignDystrophic_epidermolysis_bullosa
not_specified
0.357260.43051HET Link to ClinVar
255107251199BenignDystrophic_epidermolysis_bullosa
not_specified
.0.68111HOM Link to ClinVar
255103251203BenignDystrophic_epidermolysis_bullosa
Recessive_dystrophic_epidermolysis_bullosa
not_specified
0.119160.09904HET Link to ClinVar
9288398790Benignnot_specified0.991350.99521HOM Link to ClinVar
683820659914Benignnot_provided..HOM Link to ClinVar
380004367668Benignnot_specified0.730370.75799HOM Link to ClinVar
380775367325Benignnot_specified.0.58287HOM Link to ClinVar
226558229102BenignLimb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C9
not_specified
0.992310.96586HOM Link to ClinVar
3175340413Benignnot_specified
not_provided
0.992480.96586HOM Link to ClinVar
3175440414Benignnot_provided.0.96605HOM Link to ClinVar
3175740417not_providednot_provided0.563870.55411HOM Link to ClinVar
668904660047Benignnot_provided..HET Link to ClinVar
668902660053Benignnot_provided..HET Link to ClinVar
668901659920Benignnot_provided..HET Link to ClinVar
346060291130BenignCongenital_Stationary_Night_Blindness,_Dominant.0.32388HET Link to ClinVar
346062295475BenignCongenital_Stationary_Night_Blindness,_Dominant.0.21605HET Link to ClinVar
346070292121BenignCongenital_Stationary_Night_Blindness,_Dominant.0.59385HET Link to ClinVar
709122130Affects,_risk_factorTuberculosis,_susceptibility_to
Susceptibility_to_malaria
Bacteremia,_susceptibility_to,_2
.0.71985HOM Link to ClinVar
478413452896BenignSPERMATOGENIC_FAILURE_18
Ciliary_dyskinesia,_primary,_37
0.035950.03055HET Link to ClinVar
478430452892BenignSPERMATOGENIC_FAILURE_18
Ciliary_dyskinesia,_primary,_37
0.034650.02776HET Link to ClinVar
402598389573Benignnot_specified0.188170.16114HET Link to ClinVar
402599389631Benignnot_specified.0.15296HET Link to ClinVar
478382453030BenignSPERMATOGENIC_FAILURE_18
Ciliary_dyskinesia,_primary,_37
.0.02995HET Link to ClinVar
478396453316BenignSPERMATOGENIC_FAILURE_18
Ciliary_dyskinesia,_primary,_37
0.038110.02995HET Link to ClinVar
402605389649Benignnot_specified.0.99641HOM Link to ClinVar
346111292135Likely_benignTumor_susceptibility_linked_to_germline_BAP1_mutations.0.02816HET Link to ClinVar
676905660247Likely_benignnot_provided..HET Link to ClinVar
671944660250Benignnot_provided..HET Link to ClinVar
716630720568Benignnot_provided..HET Link to ClinVar
346142292152BenignCongenital_disorder_of_glycosylation.0.71845HET Link to ClinVar
346143295729Likely_benignCongenital_disorder_of_glycosylation.0.16993HET Link to ClinVar
346172295628Likely_benignCongenital_disorder_of_glycosylation.0.16693HET Link to ClinVar
346174295786Likely_benignCongenital_disorder_of_glycosylation.0.14796HET Link to ClinVar
346175291224BenignCongenital_disorder_of_glycosylation.0.65076HET Link to ClinVar
440191433862Conflicting_interpretations_of_pathogenicitynot_provided0.00089.HET Link to ClinVar
403345390582Benignnot_specified0.275740.28215HET Link to ClinVar
403346390583Benignnot_specified0.748050.71346HET Link to ClinVar
403347390584Benignnot_specified0.965470.90196HOM Link to ClinVar
403348390585Benignnot_specified0.983480.9405HOM Link to ClinVar
518347508788BenignSinoatrial_node_dysfunction_and_deafness0.888670.91094HOM Link to ClinVar
226470229117BenignSinoatrial_node_dysfunction_and_deafness
not_specified
0.299360.19229HET Link to ClinVar
346219295678BenignRobinow_syndrome,_autosomal_dominant_1.0.0643HET Link to ClinVar
346220292266BenignRobinow_syndrome,_autosomal_dominant_1..HET Link to ClinVar
346223291265BenignRobinow_syndrome,_autosomal_dominant_1.0.80951HOM Link to ClinVar
346235292289BenignRobinow_syndrome,_autosomal_dominant_1.0.13059HET Link to ClinVar
346242295824BenignRobinow_syndrome,_autosomal_dominant_1.0.1232HET Link to ClinVar
346260295848BenignRobinow_syndrome,_autosomal_dominant_1.0.1228HET Link to ClinVar
402505390507Benignnot_specified..HOM Link to ClinVar
402630389587Benignnot_specified0.618410.66514HOM Link to ClinVar
402631390439Benignnot_specified0.299340.27736HOM Link to ClinVar
402632390440Benignnot_specified0.536650.58646HOM Link to ClinVar
402633389575Benignnot_specified0.544250.59045HOM Link to ClinVar
402635389613Benignnot_specified0.318110.29992HOM Link to ClinVar
402636389577Benignnot_specified0.500710.40415HOM Link to ClinVar
402637389618Benignnot_specified0.529350.42093HOM Link to ClinVar
402638389622Benignnot_specified0.537250.42512HOM Link to ClinVar
402639389580Benignnot_specified0.718510.63239HOM Link to ClinVar
402640389593Benignnot_specified0.716530.63159HOM Link to ClinVar
402641389651Benignnot_specified0.712970.63159HOM Link to ClinVar
402642389594Benignnot_specified.0.63359HOM Link to ClinVar
516749500813Benignnot_specified0.295940.29952HOM Link to ClinVar
683067660265Benignnot_provided..HET Link to ClinVar
670721659986Benignnot_provided..HET Link to ClinVar
671372660063Benignnot_provided..HET Link to ClinVar
671375659987Benignnot_provided..HET Link to ClinVar
683105659944Benignnot_provided..HET Link to ClinVar
683107659947Benignnot_provided..HET Link to ClinVar
258106251255Benign/Likely_benignnot_specified
FLNB-Related_Spectrum_Disorders
0.373220.54613HET Link to ClinVar
671078659949Benignnot_provided..HET Link to ClinVar
671079659954Benignnot_provided..HET Link to ClinVar
671095660007Benignnot_provided..HET Link to ClinVar
671101660009Benignnot_provided..HET Link to ClinVar
258110251258Benign/Likely_benignnot_specified
FLNB-Related_Spectrum_Disorders
0.70790.83327HET Link to ClinVar
258111251259Benign/Likely_benignnot_specified
FLNB-Related_Spectrum_Disorders
0.409090.64856HET Link to ClinVar
671102660281Benignnot_provided..HET Link to ClinVar
683109660013Benignnot_provided..HET Link to ClinVar
258114251262Benign/Likely_benignnot_specified
FLNB-Related_Spectrum_Disorders
0.395170.60823HET Link to ClinVar
671106660107Benignnot_provided..HET Link to ClinVar
683137660112Benignnot_provided..HET Link to ClinVar
258119251266Benignnot_specified0.669790.7486HET Link to ClinVar
258122251269Benign/Likely_benignnot_specified
FLNB-Related_Spectrum_Disorders
0.38520.57129HET Link to ClinVar
683176660026Benignnot_provided..HET Link to ClinVar
683177660031Benignnot_provided..HET Link to ClinVar
346385295902Likely_benignFLNB-Related_Spectrum_Disorders.0.69309HET Link to ClinVar
346397295906BenignPyruvate_dehydrogenase_complex_deficiency0.488870.36741HET Link to ClinVar
346398295935BenignPyruvate_dehydrogenase_complex_deficiency.0.1847HET Link to ClinVar
346399292522BenignPyruvate_dehydrogenase_complex_deficiency0.795020.74181HOM Link to ClinVar
346400292523BenignPyruvate_dehydrogenase_complex_deficiency0.294440.20048HET Link to ClinVar
346402291384BenignPyruvate_dehydrogenase_complex_deficiency0.408360.36721HET Link to ClinVar
346403295938BenignPyruvate_dehydrogenase_complex_deficiency.0.20467HET Link to ClinVar
669536660122Benignnot_provided..HET Link to ClinVar
129880135326BenignPyruvate_dehydrogenase_complex_deficiency
not_specified
not_provided
0.283180.20467HET Link to ClinVar
559256549911Benignnot_provided..HOM Link to ClinVar
669535660124Benignnot_provided..HET Link to ClinVar
128518133967Likely_benignnot_specified.0.4377HET Link to ClinVar
346415295948BenignProgressive_myoclonic_epilepsy.0.88099HOM Link to ClinVar
346417291387BenignProgressive_myoclonic_epilepsy.0.88139HOM Link to ClinVar
346422291393Likely_benignProgressive_myoclonic_epilepsy.0.10463HET Link to ClinVar
346436292571Likely_benignProgressive_myoclonic_epilepsy.0.14377HET Link to ClinVar
346438291405BenignProgressive_myoclonic_epilepsy.0.91194HOM Link to ClinVar
346439292572Likely_benignProgressive_myoclonic_epilepsy.0.09485HET Link to ClinVar
346451295958BenignProgressive_myoclonic_epilepsy.0.91214HOM Link to ClinVar
130035135481Likely_benignProgressive_myoclonic_epilepsy
not_specified
0.065560.05471HET Link to ClinVar
130137135584BenignProgressive_myoclonic_epilepsy
not_specified
Epilepsy,_progressive_myoclonic_5
not_provided
0.994530.98383HOM Link to ClinVar
162162171875not_providednot_provided.0.71326HET Link to ClinVar
683875659999Benignnot_provided..HOM Link to ClinVar
683876660000Benignnot_provided..HOM Link to ClinVar
683906660057Benignnot_provided..HET Link to ClinVar
672597660333Benignnot_provided..HET Link to ClinVar
683910660338Benignnot_provided..HET Link to ClinVar
683922660064Benignnot_provided..HET Link to ClinVar
671598660033Benignnot_provided..HET Link to ClinVar
683936655577Benignnot_provided..HET Link to ClinVar
683946660149Benignnot_provided..HET Link to ClinVar
403054389634Benignnot_specified0.622750.69449HET Link to ClinVar
403055389637Benignnot_specified0.313310.36222HET Link to ClinVar
403057389598Benignnot_specified0.917030.71985HOM Link to ClinVar
403058389599Benignnot_specified0.917870.71985HOM Link to ClinVar
683801655578Benignnot_provided..HET Link to ClinVar
683791660085Benignnot_provided..HET Link to ClinVar
346554296049BenignIntellectual_Disability_with_Language_Impairment_and_Autistic_Features..HET Link to ClinVar
346618296140BenignIntellectual_Disability_with_Language_Impairment_and_Autistic_Features.0.73862HET Link to ClinVar
96228102122Benignnot_specified0.945180.97464HOM Link to ClinVar
346653296189BenignIntellectual_Disability_with_Language_Impairment_and_Autistic_Features.0.1224HET Link to ClinVar
346667296180BenignVesicoureteral_reflux.0.48682HET Link to ClinVar
346732296283BenignVesicoureteral_reflux.0.57788HOM Link to ClinVar
346754296295BenignVesicoureteral_reflux.0.68311HOM Link to ClinVar
346763296254BenignVesicoureteral_reflux.0.58247HOM Link to ClinVar
346781293004BenignGlycogen_storage_disease,_type_IV
Polyglucosan_body_disease,_adult
.0.30911HOM Link to ClinVar
197636194797BenignGlycogen_storage_disease,_type_IV
Polyglucosan_body_disease,_adult
not_specified
not_provided
0.37460.32149HET Link to ClinVar
98000103892BenignFrontotemporal_dementia
not_specified
not_provided
0.906010.8157HOM Link to ClinVar
346829291712BenignFrontotemporal_dementia
Combined_Pituitary_Hormone_Deficiency,_Recessive
.1HOM Link to ClinVar
346833291719Benign/Likely_benignFrontotemporal_dementia
Combined_Pituitary_Hormone_Deficiency,_Recessive
..HET Link to ClinVar
346836291720Benign/Likely_benignFrontotemporal_dementia
Combined_Pituitary_Hormone_Deficiency,_Recessive
.0.17512HET Link to ClinVar
346871296359Likely_benignProtein_S_deficiency.0.76038HOM Link to ClinVar
255811251293Benign/Likely_benignProtein_S_deficiency
not_specified
not_provided
0.426830.38518HET Link to ClinVar
128452133901Benign/Likely_benignJoubert_syndrome
Joubert_syndrome_8
not_specified
not_provided
0.100970.07768HET Link to ClinVar
346944296459BenignBardet-Biedl_syndrome
Retinitis_Pigmentosa,_Recessive
.0.95787HOM Link to ClinVar
769275698308Benignnot_provided..HOM Link to ClinVar
769276698309Benignnot_provided..HOM Link to ClinVar
346955293139BenignHereditary_coproporphyria.0.3153HET Link to ClinVar
346958293174BenignHereditary_coproporphyria..HOM Link to ClinVar
346967296499BenignHereditary_coproporphyria.0.32987HET Link to ClinVar
346977296501BenignHereditary_coproporphyria0.706520.75399HOM Link to ClinVar
346979296470BenignHereditary_coproporphyria
Acute_Porphyria
0.174130.24581HET Link to ClinVar
670587655490Benignnot_provided..HET Link to ClinVar
670746659417Benignnot_provided..HET Link to ClinVar
667550659419Benignnot_provided..HET Link to ClinVar
670747659422Benignnot_provided..HET Link to ClinVar
440333433969Benignnot_specified0.699270.71306HET Link to ClinVar
342277291465BenignRetinitis_Pigmentosa,_Recessive.0.8129HET Link to ClinVar
342299291657Likely_benignRetinitis_Pigmentosa,_Recessive.0.13578HET Link to ClinVar
342302287878Likely_benignRetinitis_Pigmentosa,_Recessive.0.13718HET Link to ClinVar
342308287884Likely_benignRetinitis_Pigmentosa,_Recessive.0.13718HET Link to ClinVar
342316291663BenignRetinitis_Pigmentosa,_Recessive.0.8129HET Link to ClinVar
342324287897BenignRetinitis_Pigmentosa,_Recessive.0.83806HET Link to ClinVar
342337291531BenignRetinitis_Pigmentosa,_Recessive0.791060.8129HET Link to ClinVar
342514288051BenignC_syndrome.0.45887HOM Link to ClinVar
342543288080BenignC_syndrome0.998820.99661HOM Link to ClinVar
342562291866BenignC_syndrome.0.90615HOM Link to ClinVar
342574291888BenignC_syndrome.0.94189HOM Link to ClinVar
774846697754Benignnot_provided..HET Link to ClinVar
342598291920Likely_benignHereditary_Essential_Tremor.0.95787HOM Link to ClinVar
512983500408Benignnot_specified.0.58866HET Link to ClinVar
1677031809Likely_benignEssential_tremor,_susceptibility_to
Schizophrenia,_susceptibility_to
Hereditary_Essential_Tremor
not_specified
0.656830.51358HOM Link to ClinVar
342620288882BenignAdams-Oliver_syndrome.0.30371HET Link to ClinVar
342622288132Likely_benignAdams-Oliver_syndrome.0.00919HET Link to ClinVar
342639291961BenignAdams-Oliver_syndrome0.999961HOM Link to ClinVar
342649291872BenignAdams-Oliver_syndrome0.170610.1877HET Link to ClinVar
342658291972BenignAdams-Oliver_syndrome
not_specified
0.808280.84565HET Link to ClinVar
342688291989BenignAdams-Oliver_syndrome.0.78035HET Link to ClinVar
342723288237BenignAdams-Oliver_syndrome.0.76118HET Link to ClinVar
255481250852BenignAlkaptonuria
not_specified
0.735330.73163HOM Link to ClinVar
780030708494Benignnot_provided..HET Link to ClinVar
342768288275BenignRenal_dysplasia_and_retinal_aplasia.0.62121HET Link to ClinVar
257092250853Benignnot_specified..HET Link to ClinVar
257090250855BenignRenal_dysplasia_and_retinal_aplasia
Senior-Loken_syndrome_5
not_specified
not_provided
0.288930.30272HET Link to ClinVar
198444195605BenignRenal_dysplasia_and_retinal_aplasia
not_specified
not_provided
0.627480.62001HET Link to ClinVar
342784292112BenignRenal_dysplasia_and_retinal_aplasia..HET Link to ClinVar
4414153309Benignnot_specified0.739450.78494HET Link to ClinVar
4414553313Benignnot_specified.0.35204HET Link to ClinVar
3579944463BenignFamilial_hypocalciuric_hypercalcemia
not_specified
not_provided
0.943710.92193HOM Link to ClinVar
166798177553Benignnot_specified0.99160.97284HOM Link to ClinVar
166799177554Benignnot_specified0.944630.92412HOM Link to ClinVar
342806288311BenignHypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated
.0.92013HOM Link to ClinVar
342809292174BenignHypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated
..HET Link to ClinVar
342810292175BenignHypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated
.0.96865HOM Link to ClinVar
342815288319BenignHypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated
.0.18151HET Link to ClinVar
342820292050BenignHypocalcemia
Familial_hypocalciuric_hypercalcemia
Neonatal_severe_hyperparathyroidism
Hypoparathyroidism_familial_isolated
.0.53315HOM Link to ClinVar
801997790321BenignDyskinesia,_familial,_with_facial_myokymia..HET Link to ClinVar
342823292195Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.44409HET Link to ClinVar
342845292071Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection..HET Link to ClinVar
342849289127Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection.0.49561HET Link to ClinVar
342853288338Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection.0.35164HET Link to ClinVar
226771228984Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
0.218250.3744HET Link to ClinVar
226770228986Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
0.230370.39617HET Link to ClinVar
226764228992Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided
0.578320.33267HOM Link to ClinVar
194903192065Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided
0.982420.94788HOM Link to ClinVar
226757229000Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
not_provided
0.972190.91354HOM Link to ClinVar
409695393266Conflicting_interpretations_of_pathogenicityConnective_tissue_disorder
not_specified
Cardiovascular_phenotype
not_provided
0.00039.HET Link to ClinVar
226755229002Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided
0.999620.999HOM Link to ClinVar
226753229004Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
0.656650.63279HOM Link to ClinVar
198606195767Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
not_provided
0.94450.85623HOM Link to ClinVar
342911292179Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.14597HET Link to ClinVar
342913292298Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection.0.66973HET Link to ClinVar
100124106001BenignOrotic_aciduria
not_provided
0.603410.5591HET Link to ClinVar
100125106002BenignOrotic_aciduria
not_provided
.0.46146HET Link to ClinVar
100126106003BenignOrotic_aciduria
not_provided
0.596860.5601HET Link to ClinVar
100128106005not_providednot_provided.0.64717HET Link to ClinVar
100130106007not_providednot_provided.0.24281HET Link to ClinVar
342942289191BenignOrotic_aciduria0.469560.53455HET Link to ClinVar
342953288466BenignOrotic_aciduria0.26090.27176HET Link to ClinVar
342954288468BenignOrotic_aciduria..HET Link to ClinVar
342965288478BenignOrotic_aciduria0.229270.24481HET Link to ClinVar
343011292236BenignOrotic_aciduria0.228790.24201HET Link to ClinVar
343021292369BenignOrotic_aciduria0.938860.96246HET Link to ClinVar
343027289269BenignOrotic_aciduria0.228730.24261HET Link to ClinVar
343028288507BenignOrotic_aciduria0.278210.34505HET Link to ClinVar
508098500279Benignnot_specified0.684640.59605HOM Link to ClinVar
508099500057Benignnot_specified0.755230.78994HOM Link to ClinVar
539725518873Benignnot_provided.0.6901HOM Link to ClinVar
257563250906BenignLymphedema,_primary,_with_myelodysplasia
not_specified
0.694320.70986HOM Link to ClinVar
343167292548Likely_benignCharcot-Marie-Tooth_disease,_type_2.0.05152HET Link to ClinVar
343189292405BenignAcyl-CoA_dehydrogenase_family,_member_9,_deficiency_of
not_provided
..HET Link to ClinVar
682733659485Benignnot_provided..HET Link to ClinVar
677920659489Benignnot_provided..HET Link to ClinVar
682734659490Benignnot_provided..HET Link to ClinVar
166634177459Benignnot_specified0.54370.65815HET Link to ClinVar
166635177460BenignAcyl-CoA_dehydrogenase_family,_member_9,_deficiency_of
not_specified
not_provided
0.40180.54333HET Link to ClinVar
673569659496Benignnot_provided..HET Link to ClinVar
677923659587Benignnot_provided..HET Link to ClinVar
677924659506Benignnot_provided..HET Link to ClinVar
166636177461BenignAcyl-CoA_dehydrogenase_family,_member_9,_deficiency_of
not_specified
not_provided
0.375150.51817HET Link to ClinVar
677925659494Benignnot_provided..HET Link to ClinVar
343203292606BenignAcyl-CoA_dehydrogenase_family,_member_9,_deficiency_of
not_provided
0.253310.3103HET Link to ClinVar
262267250914Benignnot_specified0.080510.1228HOM Link to ClinVar
194901192063BenignCranioectodermal_dysplasia_1
Cranioectodermal_dysplasia
not_specified
.0.53654HOM Link to ClinVar
256383250919Benignnot_specified
Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Dominant/Recessive
0.28690.52836HOM Link to ClinVar
343286292690BenignCongenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Dominant/Recessive
..HET Link to ClinVar
343302288745BenignCongenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Dominant/Recessive
.0.52097HOM Link to ClinVar
343303289494BenignCongenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Dominant/Recessive
.0.10963HOM Link to ClinVar
260113250924Benignnot_specified0.98680.95767HOM Link to ClinVar
260116250926Benignnot_specified0.986990.95807HOM Link to ClinVar
260117250927Benignnot_specified0.986730.95807HOM Link to ClinVar
678513659606Benignnot_provided..HET Link to ClinVar
678512659515Benignnot_provided..HET Link to ClinVar
801355789736Benignnot_provided..HOM Link to ClinVar
667679659519Benignnot_provided..HET Link to ClinVar
343422288854BenignAtransferrinemia0.622930.66613HET Link to ClinVar
1261727656BenignAlzheimer_disease,_susceptibility_to
Transferrin_variant_c1/c2
Atransferrinemia
0.160160.15635HET Link to ClinVar
128712134161Benignnot_specified0.172760.17193HET Link to ClinVar
128706134155Benignnot_specified0.298620.27676HET Link to ClinVar
210701207051Benignnot_specified..HET Link to ClinVar
683365659538Benignnot_provided..HET Link to ClinVar
9323199138Benignnot_specified
not_provided
0.160780.10903HET Link to ClinVar
256376250958Benignnot_specified0.304540.28634HET Link to ClinVar
683376659731Benignnot_provided..HET Link to ClinVar
683379659636Benignnot_provided..HET Link to ClinVar
403245389543Benignnot_specified0.714180.70208HOM Link to ClinVar
682637659739Benignnot_provided..HET Link to ClinVar
678136659742Benignnot_provided..HET Link to ClinVar
678010659550Benignnot_provided..HOM Link to ClinVar
9366999572Benign/Likely_benignSeckel_syndrome
not_specified
not_provided
0.864610.91633HOM Link to ClinVar
136470140173Benign/Likely_benignSeckel_syndrome
not_specified
not_provided
0.132790.10224HET Link to ClinVar
157998167845Likely_benignnot_specified0.05942.HET Link to ClinVar
157997167844Likely_benignnot_specified..HOM Link to ClinVar
678106659595Benignnot_provided..HOM Link to ClinVar
678204659596Benignnot_provided..HET Link to ClinVar
157992167839Benign/Likely_benignSeckel_syndrome
not_specified
not_provided
0.363980.3125HET Link to ClinVar
670441659580Benignnot_provided..HOM Link to ClinVar
668021659675Benignnot_provided..HET Link to ClinVar
678105659793Benignnot_provided..HOM Link to ClinVar
678104659797Benignnot_provided..HOM Link to ClinVar
157979167826Benignnot_specified
not_provided
0.137380.11721HET Link to ClinVar
668020659603Benignnot_provided..HOM Link to ClinVar
670440659681Benignnot_provided..HOM Link to ClinVar
670439659804Benignnot_provided..HET Link to ClinVar
678202659688Benignnot_provided..HET Link to ClinVar
157967167814Likely_benignnot_specified0.074520.11222HET Link to ClinVar
157966167813BenignSeckel_syndrome
not_specified
0.35160.3107HET Link to ClinVar
157965167812Benign/Likely_benignSeckel_syndrome
not_specified
not_provided
0.552930.59804HOM Link to ClinVar
668019659605Benignnot_provided..HOM Link to ClinVar
680033659690Benignnot_provided..HET Link to ClinVar
680032659691Benignnot_provided..HET Link to ClinVar
9366899571Benign/Likely_benignSeckel_syndrome
not_specified
0.553980.59744HOM Link to ClinVar
379454368245Benignnot_specified0.288240.34066HET Link to ClinVar
343635289787Likely_benignBruck_Syndrome.0.12041HET Link to ClinVar
343643289052BenignBruck_Syndrome0.503060.51118HET Link to ClinVar
674931659584Benignnot_provided..HET Link to ClinVar
684306659585Benignnot_provided..HOM Link to ClinVar
684304659592Benignnot_provided..HOM Link to ClinVar
674929659594Benignnot_provided..HET Link to ClinVar
263073250976BenignBruck_Syndrome
Bruck_syndrome_2
not_specified
0.27090.2484HET Link to ClinVar
674928659805Benignnot_provided..HET Link to ClinVar
674927659811Benignnot_provided..HET Link to ClinVar
674926659718Benignnot_provided..HET Link to ClinVar
684301659719Benignnot_provided..HOM Link to ClinVar
674925659611Benignnot_provided..HET Link to ClinVar
684290659614Benignnot_provided..HOM Link to ClinVar
684289659816Benignnot_provided..HOM Link to ClinVar
671512659615Benignnot_provided..HET Link to ClinVar
674924659599Benignnot_provided..HET Link to ClinVar
674923659600Benignnot_provided..HET Link to ClinVar
674922659610Benignnot_provided..HET Link to ClinVar
684286659818Benignnot_provided..HOM Link to ClinVar
263074250977BenignBruck_Syndrome
Bruck_syndrome_2
not_specified
0.766610.78175HOM Link to ClinVar
674921659733Benignnot_provided..HET Link to ClinVar
256759250978BenignRenal_dysplasia
not_specified
0.483710.45807HET Link to ClinVar
256758250979BenignRenal_dysplasia
not_specified
0.065530.10683HET Link to ClinVar
343683293169Likely_benignRenal_dysplasia.0.05771HET Link to ClinVar
343686289075BenignRenal_dysplasia.0.67073HET Link to ClinVar
676130659747Benignnot_provided..HOM Link to ClinVar
379980368262Benignnot_specified
not_provided
0.312490.30132HOM Link to ClinVar
163668173759BenignHermansky-Pudlak_syndrome
not_specified
0.456620.49022HET Link to ClinVar
343736289092Likely_benignHermansky-Pudlak_syndrome
Deficiency_of_ferroxidase
.0.02296HET Link to ClinVar
284863269100Conflicting_interpretations_of_pathogenicitynot_specified
not_provided
0.003810.0024HET Link to ClinVar
198992196152Benignnot_specified0.916490.86222HOM Link to ClinVar
343801289917Likely_benignRetinitis_pigmentosa-deafness_syndrome
Retinitis_Pigmentosa,_Dominant
0.072250.15475HET Link to ClinVar
343804289139BenignRetinitis_pigmentosa-deafness_syndrome
Retinitis_Pigmentosa,_Dominant
0.603750.77776HOM Link to ClinVar
343805289140BenignRetinitis_pigmentosa-deafness_syndrome
Retinitis_Pigmentosa,_Dominant
0.629280.77676HOM Link to ClinVar
678799659832Benignnot_provided..HET Link to ClinVar
672425659843Benignnot_provided..HET Link to ClinVar
678775659625Benignnot_provided..HOM Link to ClinVar
678774659617Benignnot_provided..HOM Link to ClinVar
343818289938Likely_benignRetinitis_pigmentosa-deafness_syndrome
Retinitis_Pigmentosa,_Dominant
0.550.46925HOM Link to ClinVar
261633250982Benignnot_specified0.87030.91154HOM Link to ClinVar
774172697905Benignnot_provided..HET Link to ClinVar
343890293068BenignSpastic_paraplegia,_autosomal_dominant.0.48942HOM Link to ClinVar
669743659759Benignnot_provided..HET Link to ClinVar
343919293119BenignCombined_oxidative_phosphorylation_deficiency
not_provided
0.630180.58307HET Link to ClinVar
343925289259BenignCombined_oxidative_phosphorylation_deficiency_1
Combined_oxidative_phosphorylation_deficiency
not_provided
0.546710.58327HET Link to ClinVar
669751659647Benignnot_provided..HET Link to ClinVar
669753659894Benignnot_provided..HET Link to ClinVar
343938290043BenignCombined_oxidative_phosphorylation_deficiency
not_provided
0.36570.40915HET Link to ClinVar
343940293575BenignCombined_oxidative_phosphorylation_deficiency.0.58327HET Link to ClinVar
343946293593BenignCombined_oxidative_phosphorylation_deficiency.0.40915HET Link to ClinVar
215529212292Conflicting_interpretations_of_pathogenicityJeune_thoracic_dystrophy
not_specified
not_provided
..HET Link to ClinVar
344048290170BenignSucrase-isomaltase_deficiency.0.60863HOM Link to ClinVar
344054293693BenignSucrase-isomaltase_deficiency0.613760.61901HOM Link to ClinVar
344059290175BenignSucrase-isomaltase_deficiency0.613840.61721HOM Link to ClinVar
344065289400BenignSucrase-isomaltase_deficiency0.613530.61601HOM Link to ClinVar
344073289414BenignSucrase-isomaltase_deficiency..HOM Link to ClinVar
344079289421BenignDeficiency_of_butyrylcholine_esterase..HET Link to ClinVar
1322028259Likely_benignButyrylcholinesterase_activity
Deficiency_of_butyrylcholine_esterase
0.189120.15855HET Link to ClinVar
590668581313Benignnot_specified.0.28594HET Link to ClinVar
344118293751BenignEncephalopathy,_familial,_with_neuroserpin_inclusion_bodies0.097930.11422HET Link to ClinVar
344120290239BenignEncephalopathy,_familial,_with_neuroserpin_inclusion_bodies0.097990.11422HET Link to ClinVar
344130293763BenignEncephalopathy,_familial,_with_neuroserpin_inclusion_bodies0.098460.11502HET Link to ClinVar
344137290253BenignFanconi-Bickel_syndrome.0.1859HET Link to ClinVar
344138293768BenignFanconi-Bickel_syndrome.0.20068HET Link to ClinVar
130348135795BenignFanconi-Bickel_syndrome
not_specified
not_provided
.0.3726HET Link to ClinVar
255900251003BenignFanconi-Bickel_syndrome
not_specified
not_provided
0.150140.19928HET Link to ClinVar
130349135796BenignFanconi-Bickel_syndrome
not_specified
not_provided
0.153960.21526HET Link to ClinVar
344182293372BenignShort_stature,_idiopathic,_autosomal.0.8143HET Link to ClinVar
344186289521BenignShort_stature,_idiopathic,_autosomal.0.58866HET Link to ClinVar
344196290310BenignShort_stature,_idiopathic,_autosomal.0.58886HET Link to ClinVar
344197293388BenignShort_stature,_idiopathic,_autosomal.0.81909HET Link to ClinVar
263109251010BenignShort_stature,_idiopathic,_autosomal
not_specified
0.655480.54014HET Link to ClinVar
698146686364Benignnot_provided..HET Link to ClinVar
344204289538Uncertain_significanceSpermatogenic_Failure0.020060.00938HET Link to ClinVar
344216293864Likely_benignSpermatogenic_Failure0.158180.17153HET Link to ClinVar
259957251012Benignnot_specified0.56140.58467HET Link to ClinVar
223907225635Likely_benignHereditary_cancer-predisposing_syndrome.0.00819HET Link to ClinVar
344243293875Uncertain_significancePrimary_ciliary_dyskinesia.0.00419HET Link to ClinVar
162839173902Benign/Likely_benignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_14
not_specified
not_provided
0.176430.13139HET Link to ClinVar
344267289573Benign/Likely_benignPrimary_ciliary_dyskinesia
not_specified
..HET Link to ClinVar
162842173763BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_14
not_specified
not_provided
.0.31889HET Link to ClinVar
684210659654Benignnot_provided..HET Link to ClinVar
684209659897Benignnot_provided..HOM Link to ClinVar
684207659663Benignnot_provided..HET Link to ClinVar
684206659772Benignnot_provided..HET Link to ClinVar
95941101837Benign3-MCC_Deficiency
3_Methylcrotonyl-CoA_carboxylase_1_deficiency
not_specified
0.624850.46486HET Link to ClinVar
684205659773Benignnot_provided..HOM Link to ClinVar
684202659668Benignnot_provided..HET Link to ClinVar
684201659679Benignnot_provided..HET Link to ClinVar
684200659778Benignnot_provided..HET Link to ClinVar
684198659903Benignnot_provided..HOM Link to ClinVar
684197659783Benignnot_provided..HOM Link to ClinVar
95943101839Benign3-MCC_Deficiency
not_specified
0.929740.91554HOM Link to ClinVar
802031790368Benign3_Methylcrotonyl-CoA_carboxylase_1_deficiency..HET Link to ClinVar
344318289643Benign3-MCC_Deficiency.0.54493HOM Link to ClinVar
94381100281BenignLeukoencephalopathy_with_vanishing_white_matter
not_specified
not_provided
0.349830.38998HET Link to ClinVar
344343289663BenignLeukoencephalopathy_with_vanishing_white_matter..HET Link to ClinVar
518344508785BenignParkinson_disease_180.755390.78235HET Link to ClinVar
518346508787BenignParkinson_disease_180.758210.78694HET Link to ClinVar
217776214425Uncertain_significanceLeukoencephalopathy_with_ataxia.0.46126HET Link to ClinVar
344369289675BenignThrombocythemia_1.0.64058HET Link to ClinVar
344376290439BenignThrombocythemia_1.0.50679HET Link to ClinVar
595004586066Likely_benignnot_specified0.00019.HET Link to ClinVar
243517474risk_factorDiabetes_mellitus_type_2.0.38898HET Link to ClinVar
1604531084BenignLeanness,_susceptibility_to.0.67732HET Link to ClinVar
1604331082BenignLeanness,_susceptibility_to0.683040.73542HET Link to ClinVar
1604431083BenignLeanness,_susceptibility_to0.676680.71366HET Link to ClinVar
403021389540Benignnot_specified.0.02416HET Link to ClinVar
791576708725Benignnot_provided..HET Link to ClinVar
344379294093BenignEctrodactyly
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
TP63-Related_Spectrum_Disorders
.0.48762HET Link to ClinVar
802034790371Likely_benignEctrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome_3..HET Link to ClinVar
259132251052Benignnot_specified0.125420.05851HET Link to ClinVar
259133251053Benignnot_specified0.132550.21985HET Link to ClinVar
259124251056Benignnot_specified0.231070.3123HET Link to ClinVar
259128251059Benignnot_specified.0.69888HOM Link to ClinVar
259127251060Benignnot_specified0.723170.69948HOM Link to ClinVar
344431293560BenignEctrodactyly
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
TP63-Related_Spectrum_Disorders
.0.19289HET Link to ClinVar
369418353647BenignEctrodactyly
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
TP63-Related_Spectrum_Disorders
.0.15156HET Link to ClinVar
677218655531Benignnot_provided..HET Link to ClinVar
195367192528Benignnot_specified.0.8111HET Link to ClinVar
260004251068BenignPrimary_hypomagnesemia
not_specified
0.194930.11721HOM Link to ClinVar
344463293610Likely_benignPrimary_hypomagnesemia.0.11462HOM Link to ClinVar
344474293624BenignPrimary_hypomagnesemia.0.79613HOM Link to ClinVar
95727101624BenignDominant_hereditary_optic_atrophy
not_specified
Optic_Atrophy,_Dominant
not_provided
0.468270.46805HET Link to ClinVar
667770659798Benignnot_provided..HET Link to ClinVar
667773659917Benignnot_provided..HET Link to ClinVar
95728101625Benignnot_specified0.423020.39237HET Link to ClinVar
683260659658Benignnot_provided..HET Link to ClinVar
95731101628BenignDominant_hereditary_optic_atrophy
not_specified
Optic_Atrophy,_Dominant
not_provided
0.871760.92292HOM Link to ClinVar
95730101627Benignnot_specified0.422460.38978HET Link to ClinVar
683264659826Benignnot_provided..HET Link to ClinVar
667772659710Benignnot_provided..HET Link to ClinVar
676244659829Benignnot_provided..HET Link to ClinVar
95717101614BenignDominant_hereditary_optic_atrophy
not_specified
Optic_Atrophy,_Dominant
not_provided
0.466820.46645HET Link to ClinVar
667792659833Benignnot_provided..HET Link to ClinVar
673477659660Benignnot_provided..HET Link to ClinVar
676245659665Benignnot_provided..HET Link to ClinVar
344491294191BenignOptic_Atrophy,_Dominant.0.64117HOM Link to ClinVar
344494289738BenignOptic_Atrophy,_Dominant.0.91374HOM Link to ClinVar
344500289758BenignOptic_Atrophy,_Dominant.0.59585HOM Link to ClinVar
344501294193BenignOptic_Atrophy,_Dominant.0.69629HOM Link to ClinVar
344506290543BenignOptic_Atrophy,_Dominant.0.4389HET Link to ClinVar
344512289778BenignOptic_Atrophy,_Dominant.0.33786HET Link to ClinVar
344513289784BenignOptic_Atrophy,_Dominant.0.4383HET Link to ClinVar
259877251074Benignnot_specified0.189720.11841HET Link to ClinVar
259873251078Benignnot_specified0.112010.08307HET Link to ClinVar
403381389582Benignnot_specified0.540490.40236HET Link to ClinVar
777589698002Benignnot_provided..HET Link to ClinVar
772758698538Likely_benignnot_provided..HET Link to ClinVar
476358453480BenignMental_retardation,_autosomal_recessive_530.022070.02057HET Link to ClinVar
167436177920BenignRetinitis_pigmentosa
not_specified
0.999740.999HOM Link to ClinVar
167438177922Benignnot_specified4e-050.01597HET Link to ClinVar
167439177923Benign/Likely_benignnot_specified
Congenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Recessive
3e-050.01597HET Link to ClinVar
349400260350BenignCongenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Recessive
0.614620.54792HOM Link to ClinVar
349401293981BenignCongenital_Stationary_Night_Blindness,_Dominant
Retinitis_Pigmentosa,_Recessive
0.026410.02875HET Link to ClinVar
9264798554BenignMucopolysaccharidosis_type_I
not_specified
not_provided
0.48820.39437HET Link to ClinVar
9265198558BenignMucopolysaccharidosis_type_I
not_specified
not_provided
0.913670.89197HET Link to ClinVar
710625721126Likely_benignnot_provided..HET Link to ClinVar
680617660380Benignnot_provided..HET Link to ClinVar
680176660232Benignnot_provided..HOM Link to ClinVar
379389367926Benignnot_specified.0.99641HOM Link to ClinVar
667904660305Benignnot_provided..HOM Link to ClinVar
680177660600Benignnot_provided..HOM Link to ClinVar
680178660237Benignnot_provided..HOM Link to ClinVar
258894251436BenignFibrous_dysplasia_of_jaw
not_specified
0.753770.78754HET Link to ClinVar
258898251440BenignFibrous_dysplasia_of_jaw
not_specified
.0.46625HET Link to ClinVar
348676298317BenignFibrous_dysplasia_of_jaw..HET Link to ClinVar
1827433313drug_responseHypertension,_salt-sensitive_essential,_susceptibility_to
furosemide_and_spironolactone_response_-_Efficacy
0.201870.20847HET Link to ClinVar
679323660442Benignnot_provided..HET Link to ClinVar
671280660277Benignnot_provided..HET Link to ClinVar
262864251446Benignnot_specified
not_provided
.0.13878HET Link to ClinVar
262863251448Benignnot_specified0.120140.09704HET Link to ClinVar
196596193757Benignnot_specified0.999991HOM Link to ClinVar
679325660283Benignnot_provided..HET Link to ClinVar
681771660384Benignnot_provided..HET Link to ClinVar
679326660465Benignnot_provided..HET Link to ClinVar
679327660656Benignnot_provided..HET Link to ClinVar
262878251459Benignnot_specified
not_provided
0.758910.78175HET Link to ClinVar
681772660286Likely_benignnot_provided..HET Link to ClinVar
668119660289Benignnot_provided..HET Link to ClinVar
679329660291Benignnot_provided..HET Link to ClinVar
673974660292Benignnot_provided..HET Link to ClinVar
681773660297Benignnot_provided..HET Link to ClinVar
681774660303Benignnot_provided..HET Link to ClinVar
262889251466Benignnot_specified..HET Link to ClinVar
802050790475BenignHypoplastic_enamel-onycholysis-hypohidrosis_syndrome..HET Link to ClinVar
348976293698BenignEllis-van_Creveld_syndrome.0.54094HET Link to ClinVar
667873660455Benignnot_provided..HOM Link to ClinVar
195540192701Benign/Likely_benignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.02610.00958HET Link to ClinVar
667872660320Benignnot_provided..HET Link to ClinVar
670023660680Benignnot_provided..HET Link to ClinVar
262614251508Benignnot_specified0.343180.42612HET Link to ClinVar
670010660681Benignnot_provided..HET Link to ClinVar
262613251509Benignnot_specified0.054550.08806HET Link to ClinVar
262610251512BenignEllis-van_Creveld_syndrome
not_specified
0.370590.51757HET Link to ClinVar
671964660324Benignnot_provided..HET Link to ClinVar
671963660515Benignnot_provided..HET Link to ClinVar
669999660464Benignnot_provided..HET Link to ClinVar
674988660519Benignnot_provided..HET Link to ClinVar
193763190926BenignEllis-van_Creveld_syndrome
not_specified
0.197830.23003HOM Link to ClinVar
675155660525Benignnot_provided..HET Link to ClinVar
669996660526Benignnot_provided..HET Link to ClinVar
667871660466Benignnot_provided..HET Link to ClinVar
667870660696Benignnot_provided..HET Link to ClinVar
667869660340Benignnot_provided..HET Link to ClinVar
667868660534Benignnot_provided..HET Link to ClinVar
667866660342Benignnot_provided..HET Link to ClinVar
667865660345Benignnot_provided..HET Link to ClinVar
669992660717Benignnot_provided..HET Link to ClinVar
669986660719Benignnot_provided..HET Link to ClinVar
667864660494Benignnot_provided..HET Link to ClinVar
667862660720Benignnot_provided..HOM Link to ClinVar
667861660512Benignnot_provided..HOM Link to ClinVar
667845660513Benignnot_provided..HET Link to ClinVar
667844660349Benignnot_provided..HOM Link to ClinVar
669975660560Benignnot_provided..HET Link to ClinVar
262618251523BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.16510.21865HET Link to ClinVar
439668433536Benignnot_specified.0.1869HET Link to ClinVar
669932660568Benignnot_provided..HET Link to ClinVar
675084660350Benignnot_provided..HET Link to ClinVar
198281195442BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.945620.96665HOM Link to ClinVar
198282195443BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.795060.74481HOM Link to ClinVar
667834660725Benignnot_provided..HOM Link to ClinVar
262782251530BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.584250.59006HOM Link to ClinVar
262784251533BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.629460.59305HOM Link to ClinVar
667835660726Benignnot_provided..HOM Link to ClinVar
262786251534BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.417690.47145HET Link to ClinVar
262761251536BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.491990.58287HET Link to ClinVar
262762251537BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.292470.21745HET Link to ClinVar
669934660520Benignnot_provided..HET Link to ClinVar
669948660571Benignnot_provided..HET Link to ClinVar
667837660361Benignnot_provided..HOM Link to ClinVar
262764251539Benignnot_specified0.399990.32149HET Link to ClinVar
667838660364Benignnot_provided..HET Link to ClinVar
669950660582Benignnot_provided..HET Link to ClinVar
167044177093BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
.0.84465HOM Link to ClinVar
669954660583Benignnot_provided..HET Link to ClinVar
262768251543BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
.0.30152HET Link to ClinVar
667841660528Benignnot_provided..HET Link to ClinVar
262769251544BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
.0.33387HET Link to ClinVar
667842660371Benignnot_provided..HOM Link to ClinVar
669960660590Benignnot_provided..HET Link to ClinVar
669965660548Benignnot_provided..HET Link to ClinVar
262773251547Benignnot_specified0.363880.33986HET Link to ClinVar
262774251548BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.727010.6905HET Link to ClinVar
262775251549Benign/Likely_benignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
..HET Link to ClinVar
671275660615Benignnot_provided..HET Link to ClinVar
262778251551Benignnot_specified0.745360.6907HET Link to ClinVar
262759251552BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
not_specified
0.609940.53375HET Link to ClinVar
349236293865BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
.0.4369HET Link to ClinVar
349258299022BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
..HET Link to ClinVar
349266299044BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
.0.27017HET Link to ClinVar
349272299053BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
.0.72304HET Link to ClinVar
349276299061BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
.0.38758HET Link to ClinVar
349280299063BenignEllis-van_Creveld_syndrome
Curry-Hall_syndrome
.0.38518HET Link to ClinVar
684340660618Benignnot_provided..HOM Link to ClinVar
676437660622Benignnot_provided..HOM Link to ClinVar
684341660387Benignnot_provided..HOM Link to ClinVar
670287660744Benignnot_provided..HOM Link to ClinVar
670288660748Benignnot_provided..HOM Link to ClinVar
670289660393Benignnot_provided..HOM Link to ClinVar
4545954626Benignnot_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
0.651260.71506HOM Link to ClinVar
452719566BenignDiabetes_mellitus,_noninsulin-dependent,_association_with
not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
0.655460.72883HOM Link to ClinVar
684342660576Benignnot_provided..HOM Link to ClinVar
670290660766Benignnot_provided..HOM Link to ClinVar
670298660578Benignnot_provided..HOM Link to ClinVar
4546054627Benignnot_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
0.72120.75639HOM Link to ClinVar
670299660768Benignnot_provided..HOM Link to ClinVar
670300660632Benignnot_provided..HOM Link to ClinVar
684344660771Benignnot_provided..HOM Link to ClinVar
684346660772Benignnot_provided..HOM Link to ClinVar
684347660584Benignnot_provided..HOM Link to ClinVar
684348660634Benignnot_provided..HOM Link to ClinVar
684349660395Benignnot_provided..HOM Link to ClinVar
452819567BenignDiabetes_mellitus,_noninsulin-dependent,_association_with
Diabetes_mellitus_AND_insipidus_with_optic_atrophy_AND_deafness
not_provided
.0.72125HOM Link to ClinVar
669596660398Benignnot_provided..HOM Link to ClinVar
684351660413Benignnot_provided..HOM Link to ClinVar
673197660780Benignnot_provided..HET Link to ClinVar
670301660418Benignnot_provided..HOM Link to ClinVar
670302660598Benignnot_provided..HOM Link to ClinVar
4546354630Benignnot_specified
WFS1-Related_Spectrum_Disorders
0.78180.88439HOM Link to ClinVar
4543154598Benignnot_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
0.624520.64157HOM Link to ClinVar
4543754604Benignnot_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
0.65950.72943HOM Link to ClinVar
4544254609BenignDiabetes_mellitus_AND_insipidus_with_optic_atrophy_AND_deafness
not_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
0.53670.46925HOM Link to ClinVar
4545554622Benignnot_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
.0.65316HOM Link to ClinVar
4545654623Benignnot_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
.0.77995HOM Link to ClinVar
349332299132Benignnot_specified
WFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
0.724750.78375HOM Link to ClinVar
349335295328BenignWFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
.0.84804HOM Link to ClinVar
349337293945BenignWFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
.0.60663HOM Link to ClinVar
349354299157BenignWFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
.0.6262HOM Link to ClinVar
349359293961BenignWFS1-Related_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
.0.64756HOM Link to ClinVar
669515655616Benignnot_provided..HET Link to ClinVar
350207296326BenignFamilial_renal_hypouricemia.0.27117HOM Link to ClinVar
350213300090BenignFamilial_renal_hypouricemia0.245950.29413HET Link to ClinVar
350235300158BenignFamilial_renal_hypouricemia.0.7524HOM Link to ClinVar
459419633associationUric_acid_concentration,_serum,_quantitative_trait_locus_2.0.85763HOM Link to ClinVar
350237300168BenignFamilial_renal_hypouricemia.0.64217HOM Link to ClinVar
350240300170BenignFamilial_renal_hypouricemia0.801530.82069HOM Link to ClinVar
347006296520BenignFamilial_renal_hypouricemia0.510340.40735HOM Link to ClinVar
402544389584Benignnot_specified0.997640.99002HOM Link to ClinVar
402545389605Benignnot_specified0.043870.02596HET Link to ClinVar
668061660189Benignnot_provided..HOM Link to ClinVar
126233131765Benignnot_specified0.86020.85024HOM Link to ClinVar
126230131762Benignnot_specified0.749410.7482HET Link to ClinVar
126231131763Benignnot_specified0.596780.48602HET Link to ClinVar
126236131768BenignJoubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided
0.712180.66254HOM Link to ClinVar
126239131771Benignnot_specified.0.66234HOM Link to ClinVar
126243131775Benignnot_specified0.987510.94888HOM Link to ClinVar
257382251363Benign/Likely_benignJoubert_syndrome
Meckel-Gruber_syndrome
not_specified
0.605320.56689HOM Link to ClinVar
95334101233Benignnot_specified
Stargardt_Disease,_Dominant
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Recessive
Retinal_Macular_Dystrophy
not_provided
0.360790.44689HOM Link to ClinVar
677210660365Benignnot_provided..HOM Link to ClinVar
677208660207Benignnot_provided..HOM Link to ClinVar
259907251366Benign/Likely_benignnot_specified
Stargardt_Disease,_Dominant
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Recessive
Retinal_Macular_Dystrophy
not_provided
0.173570.13818HET Link to ClinVar
677178660370Benignnot_provided..HET Link to ClinVar
348137297721BenignBH4-Deficient_Hyperphenylalaninemia.0.626HET Link to ClinVar
348138294253BenignBH4-Deficient_Hyperphenylalaninemia.0.65955HET Link to ClinVar
348141297793BenignBH4-Deficient_Hyperphenylalaninemia.0.65855HET Link to ClinVar
348142292890BenignBH4-Deficient_Hyperphenylalaninemia.0.65915HET Link to ClinVar
348150292897Uncertain_significanceBH4-Deficient_Hyperphenylalaninemia..HET Link to ClinVar
348163297814BenignBH4-Deficient_Hyperphenylalaninemia0.505670.3756HET Link to ClinVar
348165292915Likely_benignBH4-Deficient_Hyperphenylalaninemia.0.18191HET Link to ClinVar
784037779201Benignnot_provided..HET Link to ClinVar
348522293254Likely_benignPontoneocerebellar_hypoplasia.0.11582HET Link to ClinVar
130288135735Benign/Likely_benignPontoneocerebellar_hypoplasia
not_specified
0.066790.11222HET Link to ClinVar
403456389591Benignnot_specified0.864260.91074HOM Link to ClinVar
444124437747BenignDiabetes_mellitus_type_2.0.47844HET Link to ClinVar
444136437748BenignDiabetes_mellitus_type_2.0.72923HET Link to ClinVar
444128437751BenignDiabetes_mellitus_type_2.0.55431HET Link to ClinVar
444125437755BenignDiabetes_mellitus_type_2.0.46526HET Link to ClinVar
444126437757BenignDiabetes_mellitus_type_2.0.59525HET Link to ClinVar
444135437758BenignDiabetes_mellitus_type_2.0.53614HET Link to ClinVar
836023399protectiveLeprosy,_protection_against0.538920.80052HET Link to ClinVar
836123400risk_factorLeprosy_50.392140.57468HET Link to ClinVar
287684271921Conflicting_interpretations_of_pathogenicityJeune_thoracic_dystrophy
Cranioectodermal_dysplasia
not_specified
not_provided
0.00210.0006HET Link to ClinVar
261862251483Benignnot_specified0.371050.28115HET Link to ClinVar
811530799356Benignnot_specified..HOM Link to ClinVar
348762298475BenignJeune_thoracic_dystrophy
Cranioectodermal_dysplasia
.0.48862HOM Link to ClinVar
669810660484Benignnot_provided..HET Link to ClinVar
670681660399Benignnot_provided..HET Link to ClinVar
138117141820Benignnot_specified0.365450.33686HET Link to ClinVar
683095660307Benignnot_provided..HET Link to ClinVar
683097660308Benignnot_provided..HET Link to ClinVar
683116660404Benignnot_provided..HET Link to ClinVar
674123660406Benignnot_provided..HET Link to ClinVar
674124660309Benignnot_provided..HET Link to ClinVar
674137660414Benignnot_provided..HET Link to ClinVar
670682660431Benignnot_provided..HET Link to ClinVar
1229827337BenignParkinson_disease_5
Parkinson_Disease,_Dominant
0.350210.25399HET Link to ClinVar
348787298516BenignNeuroblastoma
Congenital_central_hypoventilation
.0.42432HET Link to ClinVar
348788294839BenignNeuroblastoma
Congenital_central_hypoventilation
.0.05232HET Link to ClinVar
4388853057Benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
.0.85503HET Link to ClinVar
348826298554Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.53614HET Link to ClinVar
775217698523Likely_benignnot_provided..HET Link to ClinVar
348845298617Uncertain_significanceRetinitis_Pigmentosa,_Recessive0.012170.00519HET Link to ClinVar
517097500531Benignnot_specified.0.11222HET Link to ClinVar
178775173814Benignnot_specified0.592120.46665HOM Link to ClinVar
259949251495BenignGastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
not_specified
0.988040.95767HOM Link to ClinVar
259952251498Benignnot_specified0.802090.69908HOM Link to ClinVar
259953251499BenignGastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
not_specified
0.998990.9972HOM Link to ClinVar
348913298643BenignGastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
.0.99701HOM Link to ClinVar
348921298654Likely_benignGastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
.0.03075HET Link to ClinVar
348925298660Uncertain_significanceGastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
... Link to ClinVar
348930294981BenignGastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
.0.9972HOM Link to ClinVar
348943293573BenignGastrointestinal_stroma_tumor
Idiopathic_hypereosinophilic_syndrome
.0.98762HOM Link to ClinVar
518355508794BenignHemangioma,_capillary_infantile0.998560.99681HOM Link to ClinVar
134603138342not_providednot_specified0.219830.21186HET Link to ClinVar
134616138355not_providednot_specified0.108930.15256HET Link to ClinVar
349002295041Uncertain_significanceCongenital_disorder_of_glycosylation.0.00899HET Link to ClinVar
676204660677Benignnot_provided..HOM Link to ClinVar
676206660451Benignnot_provided..HOM Link to ClinVar
349009293625Likely_benignCongenital_disorder_of_glycosylation.0.26757HOM Link to ClinVar
349019293640Likely_benignCongenital_disorder_of_glycosylation.0.26757HOM Link to ClinVar
349022298694Likely_benignCongenital_disorder_of_glycosylation.0.26737HOM Link to ClinVar
349024298695BenignCongenital_disorder_of_glycosylation.0.6887HOM Link to ClinVar
349033298714Likely_benignCongenital_disorder_of_glycosylation.0.26917HOM Link to ClinVar
349043295072Likely_benignCongenital_disorder_of_glycosylation.0.26757HOM Link to ClinVar
349047293667BenignCongenital_disorder_of_glycosylation.0.75HOM Link to ClinVar
193395190559BenignCongenital_disorder_of_glycosylation
not_specified
0.772140.75519HOM Link to ClinVar
349072298767Likely_benignCongenital_disorder_of_glycosylation.0.20967HOM Link to ClinVar
128696134145Benignnot_specified0.209460.13918HET Link to ClinVar
349460299265BenignIsolated_GnRH_Deficiency.0.98103HOM Link to ClinVar
349468299275Likely_benignIsolated_GnRH_Deficiency.0.46625HOM Link to ClinVar
349475295504Likely_benignIsolated_GnRH_Deficiency.0.44169HOM Link to ClinVar
349477299286Likely_benignIsolated_GnRH_Deficiency.0.46685HOM Link to ClinVar
349478295507Likely_benignIsolated_GnRH_Deficiency.0.46586HOM Link to ClinVar
349482299291Likely_benignIsolated_GnRH_Deficiency.0.46605HOM Link to ClinVar
349483299297Likely_benignIsolated_GnRH_Deficiency..HOM Link to ClinVar
225966227750drug_responseoxazepam_response_-_Other
lorazepam_response_-_Other
0.502390.54653HOM Link to ClinVar
349489299321BenignAmelogenesis_Imperfecta,_Dominant.0.23842HET Link to ClinVar
349499295533Likely_benignAmelogenesis_Imperfecta,_Dominant0.013850.03934HET Link to ClinVar
349513295535BenignAmelogenesis_Imperfecta,_Dominant.0.22624HET Link to ClinVar
349520299348BenignAmelogenesis_Imperfecta,_Dominant.0.24161HET Link to ClinVar
349540299360Likely_benignRenal_tubular_acidosis,_proximal,_with_ocular_abnormalities_and_mental_retardation0.042010.03514HET Link to ClinVar
349565295591BenignRenal_tubular_acidosis,_proximal,_with_ocular_abnormalities_and_mental_retardation.0.88818HOM Link to ClinVar
349571299410BenignRenal_tubular_acidosis,_proximal,_with_ocular_abnormalities_and_mental_retardation.0.28794HET Link to ClinVar
349598299412BenignRenal_tubular_acidosis,_proximal,_with_ocular_abnormalities_and_mental_retardation.0.62061HOM Link to ClinVar
1598631025BenignGC1/GC2_POLYMORPHISM.0.20787HET Link to ClinVar
1598731026BenignGC1/GC2_POLYMORPHISM0.51590.38159HET Link to ClinVar
748886749057Benignnot_provided..HET Link to ClinVar
430719424258associationLip_and_oral_cavity_carcinoma0.170920.17652HET Link to ClinVar
349639299444Likely_benignHyperthyroxinemia,_dysalbuminemic0.535380.48343HET Link to ClinVar
669877660783Benignnot_provided..HET Link to ClinVar
670734655614Benignnot_provided..HOM Link to ClinVar
772868698634Likely_benignnot_provided..HET Link to ClinVar
261821251564BenignFraser_syndrome_1
not_specified
0.456260.55152HET Link to ClinVar
518357508796BenignFraser_syndrome_10.270010.28774HET Link to ClinVar
261808251566BenignFraser_syndrome_1
not_specified
0.974090.92213HOM Link to ClinVar
194790191953BenignFraser_syndrome_1
not_specified
..HET Link to ClinVar
261804251568BenignFraser_syndrome_1
not_specified
.0.43431HET Link to ClinVar
261813251576BenignFraser_syndrome_1
not_specified
0.990120.96765HOM Link to ClinVar
349752299519BenignFraser_syndrome_10.311960.3137HOM Link to ClinVar
261814251577BenignFraser_syndrome_1
not_specified
0.986690.95607HOM Link to ClinVar
261817251580BenignFraser_syndrome_1
not_specified
0.508630.59385HET Link to ClinVar
261818251582BenignFraser_syndrome_1
not_specified
.0.59165HET Link to ClinVar
349790295831BenignFraser_syndrome_10.32680.40455HET Link to ClinVar
349802299604Likely_benignFraser_syndrome_10.020570.01478HET Link to ClinVar
349805294360BenignFraser_syndrome_1..HET Link to ClinVar
261798251588BenignFraser_syndrome_1
not_specified
0.547090.51098HET Link to ClinVar
261801251590BenignFraser_syndrome_1
not_specified
0.488420.51498HET Link to ClinVar
261802251591BenignFraser_syndrome_1
not_specified
0.488420.51498HET Link to ClinVar
547870538370Uncertain_significanceFraser_syndrome_10.013230.00779HET Link to ClinVar
349829299624BenignFraser_syndrome_1.0.20228HET Link to ClinVar
349856299659BenignFraser_syndrome_1.0.66174HET Link to ClinVar
349861295929BenignFraser_syndrome_1.0.66174HET Link to ClinVar
349864299682BenignFraser_syndrome_1.0.64038HET Link to ClinVar
349866299685BenignFraser_syndrome_1..HET Link to ClinVar
349874295946BenignHyaline_fibromatosis_syndrome.0.80272HET Link to ClinVar
349882294465BenignHyaline_fibromatosis_syndrome.0.69728HET Link to ClinVar
349890294483BenignHyaline_fibromatosis_syndrome.0.3772HET Link to ClinVar
349897294488Likely_benignHyaline_fibromatosis_syndrome.0.14257HET Link to ClinVar
128830134279Benign/Likely_benignCoenzyme_Q10_deficiency,_primary_1
not_specified
Coenzyme_Q10_deficiency,_primary
not_provided
0.278790.21026HET Link to ClinVar
683554660668Benignnot_provided..HET Link to ClinVar
128829134278BenignCoenzyme_Q10_deficiency,_primary_1
not_specified
Coenzyme_Q10_deficiency,_primary
not_provided
0.738030.77816HET Link to ClinVar
226000227830drug_responseatorvastatin_response_-_Toxicity/ADR
hmg_coa_reductase_inhibitors_response_-_Toxicity/ADR
rosuvastatin_response_-_Toxicity/ADR
.0.66014HET Link to ClinVar
683553660443Benignnot_provided..HET Link to ClinVar
683548660446Benignnot_provided..HET Link to ClinVar
128828134277BenignCoenzyme_Q10_deficiency,_primary_1
not_specified
Coenzyme_Q10_deficiency,_primary
not_provided
0.724890.64976HET Link to ClinVar
136978140681Benign/Likely_benignCoenzyme_Q10_deficiency,_primary_1
not_specified
not_provided
.0.00998HET Link to ClinVar
349919296014BenignEpileptic_encephalopathy.0.19429HET Link to ClinVar
349928299748BenignEpileptic_encephalopathy.0.45288HET Link to ClinVar
349933296030BenignEpileptic_encephalopathy.0.45268HET Link to ClinVar
349939296037BenignEpileptic_encephalopathy.0.21546HET Link to ClinVar
349954299820BenignEpileptic_encephalopathy0.658060.59345HET Link to ClinVar
260356251593Benignnot_specified0.516170.47145HOM Link to ClinVar
260355251594Benignnot_specified0.258550.21865HOM Link to ClinVar
740806749100Likely_benignnot_provided..HET Link to ClinVar
260359251597Benignnot_specified0.628170.67432HOM Link to ClinVar
260353251599Benignnot_specified0.794280.85543HOM Link to ClinVar
598009589070Benignnot_specified0.181080.17232HET Link to ClinVar
9279598702Benign/Likely_benignPolycystic_kidney_disease,_autosomal_dominant
Polycystic_kidney_disease_2
not_specified
not_provided
0.062520.11442HET Link to ClinVar
440143432996BenignPolycystic_kidney_disease_20.603930.69629HOM Link to ClinVar
219985221479Benign/Likely_benignPolycystic_kidney_disease_2
not_specified
not_provided
0.004810.00579HET Link to ClinVar
350035299900Likely_benignPolycystic_kidney_disease,_autosomal_dominant..HET Link to ClinVar
350037296123Likely_benignPolycystic_kidney_disease,_autosomal_dominant.0.19309HOM Link to ClinVar
350045296126Likely_benignPolycystic_kidney_disease,_autosomal_dominant.0.09864HET Link to ClinVar
3038939346drug_responseallopurinol_response_-_Dosage,_Efficacy
Ovarian_Neoplasms
Uric_acid_concentration,_serum,_quantitative_trait_locus_1
Blood_group,_Junior_system
Gemcitabine_response
rosuvastatin_response_-_Efficacy
0.118020.11941HET Link to ClinVar
3038639343Affects,_associationUric_acid_concentration,_serum,_quantitative_trait_locus_1
Blood_group,_Junior_system
0.107580.15755HET Link to ClinVar
350093299919BenignParkinson_Disease,_Dominant.0.48423HOM Link to ClinVar
350131296235BenignBrachydactyly
not_provided
.0.40415HOM Link to ClinVar
350133299987BenignBrachydactyly.0.59285HOM Link to ClinVar
350135300008Uncertain_significanceBrachydactyly..HET Link to ClinVar
350147300021BenignBrachydactyly.0.57927HOM Link to ClinVar
350152300020BenignBrachydactyly.0.59345HOM Link to ClinVar
350167300040BenignBrachydactyly.0.38359HOM Link to ClinVar
350171300043BenignBrachydactyly.0.38439HOM Link to ClinVar
350174300046BenignBrachydactyly.0.38478HOM Link to ClinVar
350175296278BenignBrachydactyly.0.12061HET Link to ClinVar
1818033219protectiveAlcohol_dependence0.344390.21426HET Link to ClinVar
1817933218protectiveAlcohol_dependence0.342470.21426HET Link to ClinVar
402344389612Benignnot_specified0.984840.99281HOM Link to ClinVar
347008294755BenignAbetalipoproteinaemia0.215370.1907HOM Link to ClinVar
347009300160BenignAbetalipoproteinaemia0.331910.25HOM Link to ClinVar
1424229281BenignAbetalipoproteinaemia
Metabolic_syndrome,_protection_against
not_specified
0.250440.2498HOM Link to ClinVar
347052294800Uncertain_significanceAbetalipoproteinaemia.0.01038HET Link to ClinVar
347062296412BenignAbetalipoproteinaemia.0.6877HOM Link to ClinVar
126916308Uncertain_significanceSystemic_lupus_erythmatosus,_association_with.0.21845HET Link to ClinVar
347065296563BenignBeta-D-mannosidosis.0.55032HET Link to ClinVar
347067291851BenignBeta-D-mannosidosis.0.55032HET Link to ClinVar
347068293217BenignBeta-D-mannosidosis.0.55032HET Link to ClinVar
347074296580BenignBeta-D-mannosidosis.0.55032HET Link to ClinVar
347075293223BenignBeta-D-mannosidosis.0.55032HET Link to ClinVar
347077296534Benign/Likely_benignBeta-D-mannosidosis
not_provided
0.013130.00639HET Link to ClinVar
403070389604Benignnot_specified
not_provided
..HET Link to ClinVar
667482660176Benignnot_provided..HET Link to ClinVar
667481660177Benignnot_provided..HET Link to ClinVar
667480660388Benignnot_provided..HET Link to ClinVar
667478660062Benignnot_provided..HET Link to ClinVar
667477660390Benignnot_provided..HET Link to ClinVar
667476660067Benignnot_provided..HET Link to ClinVar
95320101219BenignBeta-D-mannosidosis
not_specified
not_provided
0.532960.54972HET Link to ClinVar
667475660181Benignnot_provided..HET Link to ClinVar
667474660183Benignnot_provided..HET Link to ClinVar
667473660152Benignnot_provided..HET Link to ClinVar
667472660392Benignnot_provided..HET Link to ClinVar
95319101218BenignBeta-D-mannosidosis
not_specified
not_provided
.0.54912HET Link to ClinVar
95318101217Benignnot_specified
not_provided
0.533680.54912HET Link to ClinVar
667470660160Benignnot_provided..HET Link to ClinVar
667469660185Benignnot_provided..HET Link to ClinVar
667468660187Benignnot_provided..HET Link to ClinVar
347104296542Likely_benignIsolated_GnRH_Deficiency.0.55032HOM Link to ClinVar
802081790428BenignHypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3..HOM Link to ClinVar
670712660075Benignnot_provided..HET Link to ClinVar
377766367432Benignnot_specified.0.65096HET Link to ClinVar
167162177759Benignnot_specified0.915050.86901HOM Link to ClinVar
767969777405Benignnot_provided..HOM Link to ClinVar
162164171877not_providednot_provided.0.78455HOM Link to ClinVar
369434353663BenignAtypical_hemolytic_uremic_syndrome0.01070.03275HET Link to ClinVar
347143293307BenignAtypical_hemolytic_uremic_syndrome0.988170.95367HOM Link to ClinVar
347167293323BenignAtypical_hemolytic_uremic_syndrome0.283720.3121HET Link to ClinVar
347170296651Likely_benignAtypical_hemolytic_uremic_syndrome0.004810.01118HET Link to ClinVar
347195296675BenignCongenital_Stationary_Night_Blindness,_Recessive.0.2486HET Link to ClinVar
347196291932BenignCongenital_Stationary_Night_Blindness,_Recessive0.195110.25899HET Link to ClinVar
347197296667BenignCongenital_Stationary_Night_Blindness,_Recessive0.037990.11741HET Link to ClinVar
347198293357BenignCongenital_Stationary_Night_Blindness,_Recessive0.195040.2488HET Link to ClinVar
347203296699Likely_benignCongenital_Stationary_Night_Blindness,_Recessive.0.03415HET Link to ClinVar
347206291943BenignCongenital_Stationary_Night_Blindness,_Recessive.0.77776HOM Link to ClinVar
347213296678Likely_benignCongenital_Stationary_Night_Blindness,_Recessive.0.04633HOM Link to ClinVar
225998227748drug_responsecetuximab_response_-_Efficacy
Renal_Hypomagnesemia,_Recessive
.0.60523HET Link to ClinVar
347234296701BenignRenal_Hypomagnesemia,_Recessive0.098460.16534HET Link to ClinVar
780933709124Benignnot_provided..HET Link to ClinVar
347242293436BenignRenal_Hypomagnesemia,_Recessive0.047670.10603HET Link to ClinVar
347245293437BenignRenal_Hypomagnesemia,_Recessive0.465840.61781HET Link to ClinVar
347248296755Likely_benignRenal_Hypomagnesemia,_Recessive0.011630.03315HET Link to ClinVar
347252292005BenignRenal_Hypomagnesemia,_Recessive0.840670.92053HOM Link to ClinVar
347273293454Likely_benignRenal_Hypomagnesemia,_Recessive.0.03035HET Link to ClinVar
347278292021Uncertain_significanceRenal_Hypomagnesemia,_Recessive..HET Link to ClinVar
347283293461BenignRenal_Hypomagnesemia,_Recessive.0.42552HET Link to ClinVar
672177660162Benignnot_provided..HET Link to ClinVar
683232660082Benignnot_provided..HET Link to ClinVar
683235660213Benignnot_provided..HET Link to ClinVar
671890660168Benignnot_provided..HET Link to ClinVar
678445660097Benignnot_provided..HET Link to ClinVar
671891660432Benignnot_provided..HET Link to ClinVar
671007660452Benignnot_provided..HOM Link to ClinVar
347373296847BenignIntellectual_Disability,_Recessive..HET Link to ClinVar
130041135487Benignnot_specified
Intellectual_Disability,_Recessive
0.554670.54533HET Link to ClinVar
130042135488Benignnot_specified
Intellectual_Disability,_Recessive
0.654340.49221HOM Link to ClinVar
771145698349Benignnot_provided..HET Link to ClinVar
672825660267Benignnot_provided..HOM Link to ClinVar
671139660141Benignnot_provided..HET Link to ClinVar
671140660151Benignnot_provided..HET Link to ClinVar
671141660483Benignnot_provided..HET Link to ClinVar
3178740447BenignFamilial_hypertrophic_cardiomyopathy_16
not_specified
not_provided
0.649430.54633HET Link to ClinVar
671142660157Benignnot_provided..HET Link to ClinVar
674345660269Benignnot_provided..HET Link to ClinVar
4578654951Benignnot_specified..HET Link to ClinVar
347422296893Likely_benignHypertrophic_cardiomyopathy.0.28734HET Link to ClinVar
1649431533BenignFATTY_ACID-BINDING_PROTEIN,_INTESTINAL,_POLYMORPHISM_OF0.726060.74661HET Link to ClinVar
683711660211Benignnot_provided..HOM Link to ClinVar
683710660504Benignnot_provided..HET Link to ClinVar
347437293600BenignBrittle_cornea_syndrome_1
not_specified
0.211550.13738HET Link to ClinVar
683709660284Benignnot_provided..HOM Link to ClinVar
347440292165BenignBrittle_cornea_syndrome_1
not_specified
..HET Link to ClinVar
683708660287Benignnot_provided..HET Link to ClinVar
683727660212Benignnot_provided..HET Link to ClinVar
347444296920BenignBrittle_cornea_syndrome_1
not_specified
0.291170.27496HET Link to ClinVar
347445296926Benign/Likely_benignBrittle_cornea_syndrome_1
not_specified
0.024490.01018HET Link to ClinVar
347471296948BenignBardet-Biedl_syndrome..HET Link to ClinVar
347476296957BenignBardet-Biedl_syndrome.0.27676HET Link to ClinVar
262922251316BenignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
.0.8121HET Link to ClinVar
347491292191BenignBardet-Biedl_syndrome.0.30132HET Link to ClinVar
402975389654Benignnot_specified0.743360.84046HOM Link to ClinVar
347494292197Likely_benignBardet-Biedl_syndrome.0.13918HOM Link to ClinVar
166725176959BenignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided
0.414030.50639HOM Link to ClinVar
262669251326BenignBardet-Biedl_syndrome
not_specified
not_provided
0.037590.09265HET Link to ClinVar
166726177507Benign/Likely_benignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided
0.172760.09465HET Link to ClinVar
166727177222Benign/Likely_benignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided
0.169560.09265HET Link to ClinVar
166728177508Benign/Likely_benignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided
0.186830.12101HET Link to ClinVar
166730177510Benign/Likely_benignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided
0.169330.09185HET Link to ClinVar
347508293633Likely_benignBardet-Biedl_syndrome.0.13199HET Link to ClinVar
347513293643BenignBardet-Biedl_syndrome.0.54413HOM Link to ClinVar
586674576773Benignnot_provided.0.74341HOM Link to ClinVar
203522199933Benignnot_provided0.916690.87859HOM Link to ClinVar
380793367834Benignnot_specified0.701160.72105HOM Link to ClinVar
380818367553Benignnot_specified0.092130.0643HET Link to ClinVar
380882367878Benignnot_specified0.085170.10863HET Link to ClinVar
377855367841Benignnot_specified0.697410.71126HOM Link to ClinVar
668137660218Benignnot_provided..HOM Link to ClinVar
380250367846Benignnot_specified0.996590.98842HOM Link to ClinVar
380794368957Benignnot_specified0.177610.20467HET Link to ClinVar
668138660219Benignnot_provided..HOM Link to ClinVar
668139660170Benignnot_provided..HET Link to ClinVar
380795367556Benignnot_specified.0.99082HOM Link to ClinVar
380813367890BenignVan_Maldergem_syndrome_2
not_specified
0.267330.23063HET Link to ClinVar
380797367898BenignVan_Maldergem_syndrome_2
not_specified
0.997770.99101HOM Link to ClinVar
680145660543Benignnot_provided..HET Link to ClinVar
680146660295Benignnot_provided..HET Link to ClinVar
680147660221Benignnot_provided..HET Link to ClinVar
668140660298Benignnot_provided..HET Link to ClinVar
380799368992Benignnot_specified0.37450.33786HET Link to ClinVar
668141660306Benignnot_provided..HET Link to ClinVar
680154660175Benignnot_provided..HET Link to ClinVar
680157660227Benignnot_provided..HET Link to ClinVar
681691660312Benignnot_provided..HET Link to ClinVar
380802367599Benignnot_specified0.756860.74062HOM Link to ClinVar
347552292257BenignSmith-McCort_dysplasia.0.17093HET Link to ClinVar
347558292267BenignSmith-McCort_dysplasia.0.17133HET Link to ClinVar
347575292269Likely_benignSmith-McCort_dysplasia.0.10383HET Link to ClinVar
347582292290BenignSmith-McCort_dysplasia.0.15895HET Link to ClinVar
347584292299Likely_benignSmith-McCort_dysplasia.0.01138HET Link to ClinVar
347593293742BenignSmith-McCort_dysplasia.0.22704HET Link to ClinVar
667501660188Benignnot_provided..HET Link to ClinVar
667502660553Benignnot_provided..HET Link to ClinVar
347647292365BenignMethylmalonic_acidemia.0.56569HET Link to ClinVar
347652297183BenignMethylmalonic_acidemia.0.56569HET Link to ClinVar
347655297184BenignMethylmalonic_acidemia.0.27416HET Link to ClinVar
347673297192BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.71625HET Link to ClinVar
347695292417BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.55351HET Link to ClinVar
256828251336BenignPseudohypoaldosteronism_type_1_autosomal_dominant
not_specified
.0.89197HOM Link to ClinVar
256832251337BenignPseudohypoaldosteronism_type_1_autosomal_dominant
not_specified
0.881160.89197HOM Link to ClinVar
256827251338BenignPseudohypoaldosteronism_type_1_autosomal_dominant
not_specified
0.551050.5008HET Link to ClinVar
403047389609Benignnot_specified0.202770.14217HET Link to ClinVar
403048389652Benignnot_specified0.277260.16214HET Link to ClinVar
473187452979Benignnot_provided0.00770.02316HET Link to ClinVar
439869433673Conflicting_interpretations_of_pathogenicityCommon_variable_immunodeficiency_8,_with_autoimmunity
not_specified
not_provided
0.004630.002HET Link to ClinVar
403050389662Benignnot_specified0.184150.12081HET Link to ClinVar
473178453283BenignCommon_variable_immunodeficiency_8,_with_autoimmunity..HET Link to ClinVar
196133193294Benignnot_specified0.856910.753HET Link to ClinVar
347782293907BenignAfibrinogenemia,_congenital.0.21366HOM Link to ClinVar
347787292488BenignAfibrinogenemia,_congenital.0.92352HOM Link to ClinVar
347799292505BenignAfibrinogenemia,_congenital.0.21326HOM Link to ClinVar
347824297315BenignFamilial_visceral_amyloidosis,_Ostertag_type
Afibrinogenemia,_congenital
.0.64297HOM Link to ClinVar
347911297419BenignHyperekplexia.0.47364HET Link to ClinVar
347917297477BenignHyperekplexia.0.49121HET Link to ClinVar
347924297500BenignHyperekplexia0.047290.0621HET Link to ClinVar
347932292659BenignHyperekplexia.0.06849HET Link to ClinVar
347940297437BenignHyperekplexia.0.47145HET Link to ClinVar
347943292668BenignHyperekplexia.0.08626HET Link to ClinVar
347948297452BenignHyperekplexia.0.08606HET Link to ClinVar
95075100975BenignGlutaric_aciduria,_type_2
not_specified
not_provided
0.811920.67272HOM Link to ClinVar
676122660362Likely_benignnot_provided..HET Link to ClinVar
683984660570Benignnot_provided..HOM Link to ClinVar
680123660363Benignnot_provided..HOM Link to ClinVar
375483362288associationChronic_osteomyelitis.0.80691HOM Link to ClinVar
769296698419Likely_benignnot_provided..HET Link to ClinVar
348020292720BenignCarcinoma_of_pancreas.0.40675HET Link to ClinVar
128099133556Likely_benignCarcinoma_of_pancreas
not_specified
not_provided
0.00154.HET Link to ClinVar
182793180160Benignnot_specified
not_provided
0.646430.47863HOM Link to ClinVar
182795180162BenignHereditary_cancer-predisposing_syndrome..HOM Link to ClinVar
348048294114BenignCarcinoma_of_pancreas..HOM Link to ClinVar
348069297578BenignCarcinoma_of_pancreas.0.56809HOM Link to ClinVar
348072292770BenignCarcinoma_of_pancreas..HOM Link to ClinVar
348083294152BenignShort_Rib_Polydactyly_Syndrome.0.36342HET Link to ClinVar
348085292774BenignShort_Rib_Polydactyly_Syndrome.0.90575HOM Link to ClinVar
667932660372Benignnot_provided..HET Link to ClinVar
667931660214Benignnot_provided..HET Link to ClinVar
667930660577Benignnot_provided..HOM Link to ClinVar
667929660579Benignnot_provided..HOM Link to ClinVar
667928660252Benignnot_provided..HOM Link to ClinVar
95508101407BenignShort_rib-polydactyly_syndrome,_Majewski_type
not_specified
0.872220.79533HOM Link to ClinVar
667927660376Benignnot_provided..HOM Link to ClinVar
671220660581Benignnot_provided..HET Link to ClinVar
667924660272Benignnot_provided..HOM Link to ClinVar
667906660288Benignnot_provided..HOM Link to ClinVar
671200660225Benignnot_provided..HET Link to ClinVar
369440353669BenignDigital_clubbing,_isolated_congenital
Hypertrophic_osteoarthropathy,_primary,_autosomal_recessive,_1
.1HOM Link to ClinVar
348224294280BenignAspartylglucosaminuria0.610640.45687HET Link to ClinVar
683254660592Benignnot_provided..HET Link to ClinVar
683253660229Benignnot_provided..HET Link to ClinVar
683252660407Benignnot_provided..HOM Link to ClinVar
558962549568Benignnot_provided0.996690.98902HOM Link to ClinVar
683243660409Benignnot_provided..HOM Link to ClinVar
9230898219BenignAspartylglucosaminuria
not_specified
not_provided
0.978220.92093HOM Link to ClinVar
683241660300Benignnot_provided..HOM Link to ClinVar
683240660301Benignnot_provided..HOM Link to ClinVar
558965549571Benignnot_provided0.655260.61042HOM Link to ClinVar
677187660317Benignnot_provided..HET Link to ClinVar
257347251400Benignnot_specified
not_provided
0.449280.52017HET Link to ClinVar
667657660601Benignnot_provided..HET Link to ClinVar
674012660319Benignnot_provided..HET Link to ClinVar
257349251402Benignnot_specified11HOM Link to ClinVar
677188660257Benignnot_provided..HOM Link to ClinVar
257353251406Benignnot_specified
not_provided
0.198820.16474HET Link to ClinVar
674013660415Benignnot_provided..HET Link to ClinVar
674014660417Benignnot_provided..HET Link to ClinVar
667659660326Benignnot_provided..HET Link to ClinVar
667660660259Benignnot_provided..HET Link to ClinVar
348256292939BenignProgressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions.0.9365HOM Link to ClinVar
348259294314BenignProgressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions.0.03654HET Link to ClinVar
348262294317BenignProgressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions.0.4399HET Link to ClinVar
348271297875BenignProgressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions.0.46865HET Link to ClinVar
348282297804BenignProgressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions.0.43051HET Link to ClinVar
138675142378Benignnot_specified
Cardiovascular_phenotype
0.783010.65955HOM Link to ClinVar
138674142377Benignnot_specified0.156310.13918HET Link to ClinVar
671179660327Benignnot_provided..HOM Link to ClinVar
671178660337Benignnot_provided..HOM Link to ClinVar
683682660356Benignnot_provided..HOM Link to ClinVar
683681660358Benignnot_provided..HOM Link to ClinVar
672915660274Benignnot_provided..HOM Link to ClinVar
4147249908Benign/Likely_benignHuman_immunodeficiency_virus_type_1,_susceptibility_to
Herpes_simplex_encephalitis_2
not_specified
.0.23183HET Link to ClinVar
470483453122BenignHerpes_simplex_encephalitis_1.0.05451HET Link to ClinVar
348288294375BenignBietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive
.0.86222HOM Link to ClinVar
348291297824BenignBietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive
.0.4355HOM Link to ClinVar
263297251427BenignBietti_crystalline_corneoretinal_dystrophy
not_specified
Corneal_Dystrophy,_Recessive
0.585250.55931HOM Link to ClinVar
166975177662BenignBietti_crystalline_corneoretinal_dystrophy
not_specified
Corneal_Dystrophy,_Recessive
0.337710.29233HOM Link to ClinVar
166976177663BenignBietti_crystalline_corneoretinal_dystrophy
not_specified
Corneal_Dystrophy,_Recessive
.0.57748HOM Link to ClinVar
263298251428Benign/Likely_benignBietti_crystalline_corneoretinal_dystrophy
not_specified
Corneal_Dystrophy,_Recessive
0.02720.03355HET Link to ClinVar
348319297909BenignBietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive
.0.82728HOM Link to ClinVar
348324294421BenignBietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive
.0.90435HOM Link to ClinVar
348325297916BenignBietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive
.0.82728HOM Link to ClinVar
348351293022BenignBietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive
.0.45767HOM Link to ClinVar
348357294435BenignBietti_crystalline_corneoretinal_dystrophy
Corneal_Dystrophy,_Recessive
.0.90415HOM Link to ClinVar
1203727076Conflicting_interpretations_of_pathogenicityPrekallikrein_deficiency0.536470.60463HOM Link to ClinVar
760971774896Benignnot_provided..HET Link to ClinVar
348382293066Likely_benignHereditary_factor_XI_deficiency_disease.0.1284HET Link to ClinVar
348383293075BenignHereditary_factor_XI_deficiency_disease.0.38618HET Link to ClinVar
348385298032BenignHereditary_factor_XI_deficiency_disease.0.38958HET Link to ClinVar
348396298036Uncertain_significanceHereditary_factor_XI_deficiency_disease..HET Link to ClinVar
781849709288Likely_benignnot_provided..HET Link to ClinVar
259248251940Benign/Likely_benignPheochromocytoma
Leigh_syndrome
Hereditary_cancer-predisposing_syndrome
Mitochondrial_complex_II_deficiency
not_specified
.0.85843HET Link to ClinVar
130283135730Benign/Likely_benignPheochromocytoma
Leigh_syndrome
Hereditary_cancer-predisposing_syndrome
Mitochondrial_complex_II_deficiency
not_specified
0.707830.65336HET Link to ClinVar
548117538600drug_responsevincristine_response_-_Toxicity/ADR.0.28215HET Link to ClinVar
782944709550Benignnot_provided..HET Link to ClinVar
130354135801Likely_benignnot_specified.0.84006HOM Link to ClinVar
3911947725BenignAplastic_anemia
Idiopathic_fibrosing_alveolitis,_chronic_form
Dyskeratosis_congenita_autosomal_dominant
not_specified
Dyskeratosis_Congenita,_Recessive
0.123880.11781HET Link to ClinVar
539247520672Benignnot_provided.0.43431HET Link to ClinVar
225783227598BenignChronic_osteomyelitis
not_provided
.0.34764HET Link to ClinVar
539266520888Benignnot_provided.0.16574HET Link to ClinVar
539227520975Benignnot_provided.0.32149HOM Link to ClinVar
3912647732BenignAplastic_anemia
Idiopathic_fibrosing_alveolitis,_chronic_form
Dyskeratosis_congenita_autosomal_dominant
not_specified
Dyskeratosis_Congenita,_Recessive
0.404470.26558HOM Link to ClinVar
539240520856Benignnot_provided.0.29792HOM Link to ClinVar
518359508799BenignParkinsonism-dystonia,_infantile,_10.963880.9367HOM Link to ClinVar
522347512901BenignParkinsonism-dystonia,_infantile,_10.319030.42033HOM Link to ClinVar
683110661326Benignnot_provided..HET Link to ClinVar
683111660881Benignnot_provided..HET Link to ClinVar
683112661328Benignnot_provided..HET Link to ClinVar
683115660883BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_9
not_provided
..HET Link to ClinVar
354040300127Likely_benignIntellectual_Disability,_Recessive..HET Link to ClinVar
129841135287Benign/Likely_benignHistory_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive
.0.05511HET Link to ClinVar
354054300147BenignIntellectual_Disability,_Recessive0.660940.67532HOM Link to ClinVar
129845135291Benignnot_specified
Intellectual_Disability,_Recessive
0.332530.27676HET Link to ClinVar
129842135288BenignHistory_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive
0.294170.27656HET Link to ClinVar
354067304385BenignIntellectual_Disability,_Recessive.0.26238HET Link to ClinVar
702922068drug_responseDown_syndrome,_susceptibility_to
Neural_tube_defects,_folate-sensitive,_susceptibility_to
Gastrointestinal_stroma_tumor
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified
methotrexate_response_-_Toxicity/ADR
0.473030.36422HOM Link to ClinVar
138304142007BenignGastrointestinal_stroma_tumor
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified
0.315470.26997HET Link to ClinVar
506293501264Benignnot_specified.0.09006HET Link to ClinVar
138295141998Benignnot_specified.0.00799HET Link to ClinVar
138296141999BenignHomocystinuria-Megaloblastic_anemia_due_to_defect_in_cobalamin_metabolism,_cblE_complementation_type
not_specified
0.01520.00799HET Link to ClinVar
138297142000BenignHomocystinuria-Megaloblastic_anemia_due_to_defect_in_cobalamin_metabolism,_cblE_complementation_type
not_specified
0.016060.00899HET Link to ClinVar
138299142002Conflicting_interpretations_of_pathogenicityHomocystinuria-Megaloblastic_anemia_due_to_defect_in_cobalamin_metabolism,_cblE_complementation_type
Disorders_of_Intracellular_Cobalamin_Metabolism
not_specified
0.015260.00799HET Link to ClinVar
138302142005BenignDisorders_of_Intracellular_Cobalamin_Metabolism
not_specified
0.31420.26637HET Link to ClinVar
354369300511Likely_benignDisorders_of_Intracellular_Cobalamin_Metabolism.0.08307HET Link to ClinVar
354373305043BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.48562HET Link to ClinVar
354376300516BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.48622HET Link to ClinVar
350245294803BenignNeuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia
.0.6853HOM Link to ClinVar
350246296446BenignNeuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia
0.789160.6853HOM Link to ClinVar
350248300196BenignNeuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia
0.789470.6859HOM Link to ClinVar
350249300209BenignNeuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia
.0.69249HOM Link to ClinVar
350257294811BenignNeuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive
Sensory_Neuropathy_with_Spastic_Paraplegia
0.789440.6859HOM Link to ClinVar
350262296482BenignSensory_Neuropathy_with_Spastic_Paraplegia.0.6857HOM Link to ClinVar
350264296487BenignSensory_Neuropathy_with_Spastic_Paraplegia.0.6859HOM Link to ClinVar
350271300281BenignSensory_Neuropathy_with_Spastic_Paraplegia.0.6859HOM Link to ClinVar
350276300284BenignSensory_Neuropathy_with_Spastic_Paraplegia.0.6861HOM Link to ClinVar
350278296511BenignSensory_Neuropathy_with_Spastic_Paraplegia.0.66314HOM Link to ClinVar
350284296526BenignSensory_Neuropathy_with_Spastic_Paraplegia..HOM Link to ClinVar
350288300246BenignSensory_Neuropathy_with_Spastic_Paraplegia.0.88798HOM Link to ClinVar
350910295377BenignPrimary_ciliary_dyskinesia.0.44369HET Link to ClinVar
258001251675Benignnot_specified0.525780.50879HET Link to ClinVar
178740173682BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.501270.44768HET Link to ClinVar
163132173545BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.518970.50359HET Link to ClinVar
257989251687Benignnot_specified0.105710.05671HET Link to ClinVar
257985251688Benignnot_specified0.602350.59764HOM Link to ClinVar
257980251692Benignnot_specified.0.55591HOM Link to ClinVar
178744173548Benign/Likely_benignPrimary_ciliary_dyskinesia
not_specified
not_provided
.0.06569HET Link to ClinVar
407241394769PathogenicPrimary_ciliary_dyskinesia..HET Link to ClinVar
258039251744Benignnot_specified0.052650.05331HET Link to ClinVar
258038251745Benignnot_specified.0.35703HET Link to ClinVar
163154173563Benign/Likely_benignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.253470.2506HET Link to ClinVar
258017251764Benignnot_specified0.307690.3157HET Link to ClinVar
178755173566BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.501530.60124HET Link to ClinVar
163157173704BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.418620.38838HET Link to ClinVar
163158173705BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.422020.52875HET Link to ClinVar
257987251779Benignnot_specified0.421650.52875HET Link to ClinVar
257988251780Benignnot_specified0.420960.52855HET Link to ClinVar
258072251783Benignnot_specified0.258560.19589HET Link to ClinVar
178760173571BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.93580.91294HOM Link to ClinVar
351403301744BenignChondrocalcinosis
Craniometaphyseal_dysplasia
.0.70527HOM Link to ClinVar
351418297626Likely_benignChondrocalcinosis
Craniometaphyseal_dysplasia
.0.0028HET Link to ClinVar
351424295804BenignChondrocalcinosis
Craniometaphyseal_dysplasia
.0.92073HOM Link to ClinVar
351425301758BenignChondrocalcinosis
Craniometaphyseal_dysplasia
..HOM Link to ClinVar
351428297645BenignChondrocalcinosis
Craniometaphyseal_dysplasia
.0.92073HOM Link to ClinVar
351457301573BenignChondrocalcinosis
Craniometaphyseal_dysplasia
.0.96346HOM Link to ClinVar
351459301574BenignChondrocalcinosis
Craniometaphyseal_dysplasia
..HOM Link to ClinVar
351468301588BenignChondrocalcinosis
Craniometaphyseal_dysplasia
.0.96406HOM Link to ClinVar
352675298709BenignHereditary_sensory_and_autonomic_neuropathy_type_II.0.40795HET Link to ClinVar
352681302950BenignHereditary_sensory_and_autonomic_neuropathy_type_II.0.32228HET Link to ClinVar
352683303128BenignHereditary_sensory_and_autonomic_neuropathy_type_II..HET Link to ClinVar
518360508800BenignHereditary_sensory_and_autonomic_neuropathy_type_IIB0.662470.67712HET Link to ClinVar
673439660816Benignnot_provided..HET Link to ClinVar
352689296804BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Hereditary_sensory_and_autonomic_neuropathy_type_IIB
0.666120.67752HET Link to ClinVar
673438661117Benignnot_provided..HET Link to ClinVar
670508661234Benignnot_provided..HET Link to ClinVar
668135661064Benignnot_provided..HOM Link to ClinVar
286856271093Benignnot_specified0.858810.83946HET Link to ClinVar
617842609201Uncertain_significanceSpeech-language_disorder_10.16780.09585HET Link to ClinVar
197829194990Benignnot_specified0.64030.27496HOM Link to ClinVar
197309194470Benignnot_specified0.896770.83307HOM Link to ClinVar
353244303828Benign/Likely_benignOculocutaneous_albinism
Alpha-methylacyl-CoA_racemase_deficiency
.0.19369HET Link to ClinVar
128360133809BenignOculocutaneous_albinism
Alpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided
0.70160.69609HOM Link to ClinVar
128359133808Benign/Likely_benignAlpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided
0.126830.11442HET Link to ClinVar
128358133807BenignAlpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided
.0.71486HOM Link to ClinVar
128357133806BenignAlpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided
0.410770.2526HET Link to ClinVar
128356133805BenignAlpha-methylacyl-CoA_racemase_deficiency
not_specified
not_provided
0.42270.28694HET Link to ClinVar
403471389694Benignnot_specified0.606060.67911HOM Link to ClinVar
403472389682Benignnot_specified0.722040.78415HOM Link to ClinVar
403473389695Benignnot_specified0.601230.67712HOM Link to ClinVar
403475389697Benignnot_specified0.222320.35703HET Link to ClinVar
403477389646Benignnot_specified0.509550.4405HET Link to ClinVar
403478389685Benignnot_specified0.75556.HOM Link to ClinVar
403479389686Benignnot_specified0.75565.HOM Link to ClinVar
403481389667Benignnot_specified0.593350.50359HET Link to ClinVar
379998368624Benignnot_specified0.376410.32728HET Link to ClinVar
379997368629Benignnot_specified0.498590.25839HET Link to ClinVar
676272660886Benignnot_provided..HET Link to ClinVar
379996368467Benignnot_specified.0.30931HET Link to ClinVar
353326297395BenignEpisodic_ataxia0.29768.HET Link to ClinVar
353336299438BenignEpisodic_ataxia.0.35044HET Link to ClinVar
353354297413BenignEpisodic_ataxia.0.20487HET Link to ClinVar
96333102227BenignHistory_of_neurodevelopmental_disorder
Cornelia_de_Lange_syndrome_1
not_specified
Cornelia_de_Lange_Syndrome
not_provided
0.13220.1252HET Link to ClinVar
96340102234Benign/Likely_benignnot_specified0.132030.1268HET Link to ClinVar
673933661216Benignnot_provided..HOM Link to ClinVar
673934661223Benignnot_provided..HOM Link to ClinVar
667677661340Benignnot_provided..HET Link to ClinVar
96348102242BenignHistory_of_neurodevelopmental_disorder
not_specified
Cornelia_de_Lange_Syndrome
0.228430.17153HET Link to ClinVar
673993661155Benignnot_provided..HOM Link to ClinVar
673935660889Benignnot_provided..HOM Link to ClinVar
667678661158Benignnot_provided..HOM Link to ClinVar
680164661225Benignnot_provided..HET Link to ClinVar
197507194668Benign/Likely_benignJoubert_syndrome
not_specified
..HET Link to ClinVar
680162661233Benignnot_provided..HET Link to ClinVar
671676660892Benignnot_provided..HET Link to ClinVar
680161661342Benignnot_provided..HET Link to ClinVar
680160661168Benignnot_provided..HET Link to ClinVar
158048167895BenignJoubert_syndrome
Joubert_syndrome_17
not_specified
0.135070.17272HET Link to ClinVar
680158661235Benignnot_provided..HET Link to ClinVar
158046167893Benign/Likely_benignJoubert_syndrome
Joubert_syndrome_17
not_specified
0.123940.14237HET Link to ClinVar
158053167900BenignJoubert_syndrome_17
not_specified
0.999910.9998HOM Link to ClinVar
778866699089Benignnot_provided..HET Link to ClinVar
353491304160Likely_benignHirschsprung_Disease,_Dominant.0.2476HET Link to ClinVar
353494304161BenignHirschsprung_Disease,_Dominant.0.53994HET Link to ClinVar
353520304198BenignHirschsprung_Disease,_Dominant.0.40535HOM Link to ClinVar
353538303799BenignStuve-Wiedemann_syndrome.0.14217HET Link to ClinVar
353589299756Uncertain_significanceStuve-Wiedemann_syndrome..HET Link to ClinVar
353602297587BenignStuve-Wiedemann_syndrome.0.72903HET Link to ClinVar
353617297598BenignStuve-Wiedemann_syndrome0.19090.13838HET Link to ClinVar
402465389704Benignnot_specified0.536420.6278HET Link to ClinVar
402466389708Benignnot_specified0.364270.28614HOM Link to ClinVar
402458389633Benignnot_specified0.593610.55391HET Link to ClinVar
353674297643BenignSuccinyl-CoA_acetoacetate_transferase_deficiency.0.19649HET Link to ClinVar
353677303980Uncertain_significanceLaron-type_isolated_somatotropin_defect0.000480.0002HET Link to ClinVar
198051195212BenignLaron-type_isolated_somatotropin_defect
not_specified
0.712160.64157HET Link to ClinVar
255404251971Benign/Likely_benignLaron-type_isolated_somatotropin_defect
not_specified
0.022570.02057HET Link to ClinVar
865823697BenignLaron-type_isolated_somatotropin_defect
Familial_hypercholesterolemia_1
not_specified
0.443390.44449HET Link to ClinVar
353693303994BenignLaron-type_isolated_somatotropin_defect.0.45567HET Link to ClinVar
353695304005BenignLaron-type_isolated_somatotropin_defect.0.81949HOM Link to ClinVar
353706304017BenignLaron-type_isolated_somatotropin_defect..HOM Link to ClinVar
353708297656BenignLaron-type_isolated_somatotropin_defect.0.78794HOM Link to ClinVar
353723297679BenignCongenital_absence_of_salivary_gland
Levy-Hollister_syndrome
0.216110.18391HET Link to ClinVar
353737299877BenignPlatelet-type_bleeding_disorder_90.721260.70228HET Link to ClinVar
353796297736BenignCombined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9
.0.79333HOM Link to ClinVar
353800297741BenignCombined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9
.0.68011HET Link to ClinVar
353828297766Benign/Likely_benignCombined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9
.0.18371HET Link to ClinVar
353836304488Uncertain_significancePlatelet-type_bleeding_disorder_9..HET Link to ClinVar
353841297779BenignCombined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9
.0.6901HET Link to ClinVar
353851299970BenignCombined_molybdoflavoprotein_enzyme_deficiency
Platelet-type_bleeding_disorder_9
..HET Link to ClinVar
129699135145BenignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
0.627650.68091HET Link to ClinVar
683100661178Benignnot_provided..HET Link to ClinVar
683102660908Benignnot_provided..HOM Link to ClinVar
129700135146BenignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
.0.94349HOM Link to ClinVar
129701135147BenignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
0.773450.80012HET Link to ClinVar
683104661246Benignnot_provided..HET Link to ClinVar
683106661254Benignnot_provided..HET Link to ClinVar
683108661351Benignnot_provided..HET Link to ClinVar
353892304535Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
0.448490.37859HET Link to ClinVar
403074389688Benignnot_specified0.614050.48842HET Link to ClinVar
261408251972Benignnot_specified.0.17772HET Link to ClinVar
518361508801Benign46,XY_sex_reversal,_type_60.795540.6857HET Link to ClinVar
518362508802Benign46,XY_sex_reversal,_type_60.613210.52616HET Link to ClinVar
518363508803Benign46,XY_sex_reversal,_type_60.84790.80431HET Link to ClinVar
518364508804Benign46,XY_sex_reversal,_type_60.598350.47644HET Link to ClinVar
518365508805Benign46,XY_sex_reversal,_type_60.76480.70827HET Link to ClinVar
435819428439Benign46,XY_sex_reversal,_type_6
not_specified
..HET Link to ClinVar
518366508806Benign46,XY_sex_reversal,_type_6.0.70827HET Link to ClinVar
353926304270BenignAcrodysostosis.0.64656HOM Link to ClinVar
353936304283BenignAcrodysostosis.0.64756HOM Link to ClinVar
353937304604BenignAcrodysostosis.0.64736HOM Link to ClinVar
353941304619BenignAcrodysostosis.0.58906HOM Link to ClinVar
353992304670BenignAcrodysostosis
not_specified
0.838380.80931HOM Link to ClinVar
354027297944BenignCockayne_syndrome
Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_provided
.0.72424HOM Link to ClinVar
129691135137BenignCockayne_syndrome
Leigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
0.638750.69289HOM Link to ClinVar
671559661202Benignnot_provided..HOM Link to ClinVar
680678661357Benignnot_provided..HOM Link to ClinVar
380829368220Benignnot_specified0.300720.20986HOM Link to ClinVar
682855661206Benignnot_provided..HOM Link to ClinVar
682860661381Benignnot_provided..HOM Link to ClinVar
682864661383Benignnot_provided..HOM Link to ClinVar
682867661267Benignnot_provided..HOM Link to ClinVar
682868660921Benignnot_provided..HOM Link to ClinVar
682871661386Benignnot_provided..HOM Link to ClinVar
682874661214Benignnot_provided..HOM Link to ClinVar
682872661219Benignnot_provided..HOM Link to ClinVar
682876660928Benignnot_provided..HOM Link to ClinVar
682877661271Benignnot_provided..HOM Link to ClinVar
668920661281Benignnot_provided..HOM Link to ClinVar
682879661227Benignnot_provided..HOM Link to ClinVar
682882661392Benignnot_provided..HOM Link to ClinVar
682886661398Benignnot_provided..HOM Link to ClinVar
682887661291Benignnot_provided..HOM Link to ClinVar
375667362497drug_responsenot_specified
paroxetine_response_-_Efficacy
.0.54673HOM Link to ClinVar
769300777613Benignnot_provided..HET Link to ClinVar
4384353012Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
.0.28175HET Link to ClinVar
508084501602Benignnot_specified0.824750.77816HOM Link to ClinVar
509130500910Likely_benignnot_specified
not_provided
0.005620.00379HET Link to ClinVar
517819501380Benignnot_specified0.353860.32368HET Link to ClinVar
508085501609Benignnot_specified0.46180.43271HET Link to ClinVar
506538500913Benignnot_specified0.46310.4397HET Link to ClinVar
508086500915Benignnot_specified.0.4399HET Link to ClinVar
508087501387Benignnot_specified0.825430.79074HOM Link to ClinVar
508088501621Benignnot_specified0.834350.82109HOM Link to ClinVar
682760661412Benignnot_provided..HET Link to ClinVar
508127501630Benignnot_specified0.426520.39956HET Link to ClinVar
508592501633Benignnot_specified
not_provided
0.021490.02017HET Link to ClinVar
506716501636Benignnot_specified0.835340.82268HOM Link to ClinVar
508089501236Benignnot_specified0.426550.39896HET Link to ClinVar
508090501390Benignnot_specified0.461960.43271HET Link to ClinVar
517820501246Benignnot_specified0.353720.32368HET Link to ClinVar
684211661306Benignnot_provided..HET Link to ClinVar
684213661319Benignnot_provided..HOM Link to ClinVar
261560251976Benignnot_specified0.834810.8135HOM Link to ClinVar
684218660936Benignnot_provided..HET Link to ClinVar
684219661415Benignnot_provided..HOM Link to ClinVar
96032101926Benign3-MCC_Deficiency
not_specified
0.367330.33007HET Link to ClinVar
684220661417Benignnot_provided..HET Link to ClinVar
684221661321Benignnot_provided..HOM Link to ClinVar
96029101923Benign3-MCC_Deficiency
not_specified
0.878080.85144HOM Link to ClinVar
684228661256Benignnot_provided..HOM Link to ClinVar
354106304413Benign3-MCC_Deficiency.0.8111HOM Link to ClinVar
354124300210Benign3-MCC_Deficiency.0.32069HET Link to ClinVar
257378251987Benignnot_specified0.547970.57788HET Link to ClinVar
257359251992Benignnot_specified0.651440.67632HET Link to ClinVar
257363251996Benignnot_specified11HOM Link to ClinVar
257371252002Benignnot_specified0.050920.03514HET Link to ClinVar
257372252003Benignnot_specified0.057260.03654HET Link to ClinVar
257373252004Benignnot_specified0.048690.03474HET Link to ClinVar
257374252005Benignnot_specified0.380880.30232HET Link to ClinVar
680596661332Benignnot_provided..HET Link to ClinVar
369506353735BenignSandhoff_disease
not_provided
.0.51038HET Link to ClinVar
369507353736BenignSandhoff_disease.0.51038HET Link to ClinVar
167173177767BenignSandhoff_disease
not_specified
0.970820.98143HOM Link to ClinVar
680598661334Benignnot_provided..HOM Link to ClinVar
681700660941Benignnot_provided..HOM Link to ClinVar
256360252011Benignnot_specified0.891840.85344HOM Link to ClinVar
9320299109Benign/Likely_benignHEXB_POLYMORPHISM
Sandhoff_disease
not_specified
not_provided
0.151480.1284HET Link to ClinVar
137480141183Benignnot_specified.0.1236HOM Link to ClinVar
214504211177Benignnot_specified
not_provided
..HOM Link to ClinVar
671623661336Benignnot_provided..HOM Link to ClinVar
137475141178Benignnot_specified0.123950.13918HOM Link to ClinVar
137472141175Benignnot_specified0.131810.10843HOM Link to ClinVar
676215660946Benignnot_provided..HOM Link to ClinVar
137481141184Benignnot_specified0.128460.15575HOM Link to ClinVar
1490329942associationLow_density_lipoprotein_cholesterol_level_quantitative_trait_locus_3.0.4357HET Link to ClinVar
354164304827BenignStriatal_Degeneration0.703120.76518HOM Link to ClinVar
354179304539BenignStriatal_Degeneration.0.66114HET Link to ClinVar
354185304845BenignStriatal_Degeneration.0.05072HET Link to ClinVar
354192304550BenignStriatal_Degeneration.0.44549HET Link to ClinVar
162753174289BenignHermansky-Pudlak_syndrome
not_specified
0.86283.HET Link to ClinVar
369509353738Likely_benignMucopolysaccharidosis_type_VI.0.05791HET Link to ClinVar
354256298115Likely_benignMucopolysaccharidosis_type_VI.0.07568HET Link to ClinVar
354262304685BenignMucopolysaccharidosis_type_VI.0.73742HOM Link to ClinVar
354287298153BenignMucopolysaccharidosis_type_VI.0.5026HET Link to ClinVar
354290300434Likely_benignMucopolysaccharidosis_type_VI.0.17133HET Link to ClinVar
680476661273Benignnot_provided..HOM Link to ClinVar
9235098261BenignMucopolysaccharidosis_type_VI
not_specified
not_provided
0.390730.28554HET Link to ClinVar
9235798268Benign/Likely_benignMucopolysaccharidosis_type_VI
not_specified
not_provided
0.052690.02656HET Link to ClinVar
680475661437Benignnot_provided..HET Link to ClinVar
254739252018Benignnot_specified
not_provided
0.32030.24301HET Link to ClinVar
354323300479BenignMucopolysaccharidosis_type_VI.0.90515HOM Link to ClinVar
354331300491BenignMucopolysaccharidosis_type_VI.0.95188HOM Link to ClinVar
354338298198BenignMucopolysaccharidosis_type_VI.0.81629HOM Link to ClinVar
380066368577Benignnot_specified0.279840.30411HET Link to ClinVar
380065368583Benignnot_specified0.279830.30411HET Link to ClinVar
380064369960Benignnot_specified0.280770.30591HET Link to ClinVar
380063368740Benignnot_specified0.188760.19868HET Link to ClinVar
380019369997Benignnot_specified0.644820.65056HET Link to ClinVar
785801710026Benignnot_provided..HET Link to ClinVar
157590167452Uncertain_significanceGastrointestinal_stroma_tumor..HOM Link to ClinVar
402590389689Benignnot_specified..HET Link to ClinVar
354395300534BenignVitreoretinopathy
Wagner_syndrome
0.031710.01997HET Link to ClinVar
354396300536BenignVitreoretinopathy
Wagner_syndrome
0.03150.01997HET Link to ClinVar
259361252024BenignVitreoretinopathy
Wagner_syndrome
not_specified
0.152650.21286HET Link to ClinVar
198803195963BenignVitreoretinopathy
Wagner_syndrome
not_specified
0.64776.HET Link to ClinVar
167820176969BenignVitreoretinopathy
Wagner_syndrome
not_specified
0.4840.47105HET Link to ClinVar
167823177101BenignVitreoretinopathy
Wagner_syndrome
not_specified
0.381050.35843HET Link to ClinVar
167824178145BenignVitreoretinopathy
Wagner_syndrome
not_specified
0.483790.46865HET Link to ClinVar
198797195957BenignVitreoretinopathy
Wagner_syndrome
not_specified
0.483490.47045HET Link to ClinVar
198798195958BenignVitreoretinopathy
Wagner_syndrome
not_specified
.0.46845HET Link to ClinVar
198802195962BenignVitreoretinopathy
Wagner_syndrome
not_specified
0.381190.36062HET Link to ClinVar
259379252038BenignVitreoretinopathy
Wagner_syndrome
not_specified
0.97550.99201HOM Link to ClinVar
354492305120BenignVitreoretinopathy
Wagner_syndrome
.0.56889HOM Link to ClinVar
354493304902BenignVitreoretinopathy
Wagner_syndrome
.0.16993HOM Link to ClinVar
354494300623BenignVitreoretinopathy
Wagner_syndrome
..HOM Link to ClinVar
811536799424Benignnot_specified..HOM Link to ClinVar
354570305013BenignIntellectual_Disability,_Stereotypic_Movements,_Epilepsy,_and/or_Cerebral_Malformations.0.70128HET Link to ClinVar
354574305209BenignIntellectual_Disability,_Stereotypic_Movements,_Epilepsy,_and/or_Cerebral_Malformations..HET Link to ClinVar
670880661299Benignnot_provided..HET Link to ClinVar
684337660958Benignnot_provided..HET Link to ClinVar
354599305082Uncertain_significanceIntellectual_Disability,_Stereotypic_Movements,_Epilepsy,_and/or_Cerebral_Malformations..HET Link to ClinVar
670329660968Benignnot_provided..HOM Link to ClinVar
674374661390Benignnot_provided..HOM Link to ClinVar
670346661314Benignnot_provided..HOM Link to ClinVar
670347660973Benignnot_provided..HOM Link to ClinVar
4630555470Benignnot_specified0.73220.82129HOM Link to ClinVar
678787661461Benignnot_provided..HOM Link to ClinVar
678814660987Benignnot_provided..HET Link to ClinVar
4631355478Benignnot_specified.0.8103HOM Link to ClinVar
678816661465Benignnot_provided..HET Link to ClinVar
678817661007Benignnot_provided..HET Link to ClinVar
678818661408Benignnot_provided..HET Link to ClinVar
678794661470Benignnot_provided..HOM Link to ClinVar
678796661009Benignnot_provided..HOM Link to ClinVar
678797661010Benignnot_provided..HOM Link to ClinVar
158652168549Benignnot_specified
not_provided
0.486850.32268HET Link to ClinVar
4634355508Benignnot_specified0.707770.80371HOM Link to ClinVar
4634555510Benignnot_specified0.354170.33726HET Link to ClinVar
4635655521Benignnot_specified0.387420.34984HET Link to ClinVar
4635855523Benignnot_specified0.385470.32209HET Link to ClinVar
4636055525Benignnot_specified0.37290.32228HET Link to ClinVar
4636555530Benignnot_specified
not_provided
0.357450.32209HET Link to ClinVar
4637955544Benignnot_specified0.709010.80851HOM Link to ClinVar
158654168551Benignnot_specified
not_provided
.0.64717HET Link to ClinVar
674377661414Benignnot_provided..HET Link to ClinVar
678800661324Benignnot_provided..HOM Link to ClinVar
674378661335Benignnot_provided..HOM Link to ClinVar
678801661416Benignnot_provided..HET Link to ClinVar
674379661012Benignnot_provided..HOM Link to ClinVar
678802661343Benignnot_provided..HOM Link to ClinVar
4640355568Benignnot_specified0.068610.04653HET Link to ClinVar
674380661471Benignnot_provided..HOM Link to ClinVar
678803661473Benignnot_provided..HOM Link to ClinVar
674381661474Benignnot_provided..HOM Link to ClinVar
674382661015Benignnot_provided..HOM Link to ClinVar
158656168553Benignnot_specified
not_provided
0.710520.79812HOM Link to ClinVar
4640955574Benignnot_specified..HET Link to ClinVar
158642168554Likely_benignnot_specified0.56979.HOM Link to ClinVar
678805661476Benignnot_provided..HOM Link to ClinVar
678806661420Benignnot_provided..HOM Link to ClinVar
4624855413Benignnot_specified
not_provided
0.748380.82907HOM Link to ClinVar
674384661422Benignnot_provided..HOM Link to ClinVar
4625255417Benignnot_specified
not_provided
0.030080.01737HET Link to ClinVar
674385661359Benignnot_provided..HOM Link to ClinVar
4625655421Benignnot_specified..HOM Link to ClinVar
4625755422Benignnot_specified0.346470.29613HET Link to ClinVar
4625855423Benignnot_specified
not_provided
0.483020.53934HOM Link to ClinVar
674386661490Benignnot_provided..HOM Link to ClinVar
678807661424Benignnot_provided..HOM Link to ClinVar
667602661371Benignnot_provided..HOM Link to ClinVar
4626855433Benignnot_specified0.172390.09225HET Link to ClinVar
678810661382Benignnot_provided..HOM Link to ClinVar
4628255447Benignnot_specified0.968570.94609HOM Link to ClinVar
678812661441Benignnot_provided..HOM Link to ClinVar
4628555450Benignnot_specified0.992010.97224HOM Link to ClinVar
678813661028Benignnot_provided..HOM Link to ClinVar
4629155456BenignUsher_syndrome,_type_2C
not_specified
0.539310.45907HET Link to ClinVar
678815661029Benignnot_provided..HOM Link to ClinVar
4629955464Benignnot_specified0.92640.89836HOM Link to ClinVar
4630055465Benignnot_specified0.127510.13818HOM Link to ClinVar
354634300730Likely_benignProprotein_convertase_1/3_deficiency
Monogenic_Non-Syndromic_Obesity
.0.16673HOM Link to ClinVar
771152699223Likely_benignnot_provided..HET Link to ClinVar
683978660814Benignnot_provided..HOM Link to ClinVar
671100660456Benignnot_provided..HET Link to ClinVar
671104660824Benignnot_provided..HET Link to ClinVar
668632655620Benignnot_provided..HET Link to ClinVar
262466251609BenignPrimary_open_angle_glaucoma
not_specified
0.318470.25739HET Link to ClinVar
262465251610BenignPrimary_open_angle_glaucoma
not_specified
not_provided
0.320830.25919HET Link to ClinVar
350362300351BenignPrimary_open_angle_glaucoma.0.03694HET Link to ClinVar
350370300356BenignPrimary_open_angle_glaucoma.0.15455HET Link to ClinVar
8271193602otherFamilial_colorectal_cancer.0.3728HET Link to ClinVar
8271293603otherFamilial_colorectal_cancer.0.98742HOM Link to ClinVar
8271593606otherFamilial_colorectal_cancer.0.98482HOM Link to ClinVar
8271793608otherFamilial_colorectal_cancer.0.21266HET Link to ClinVar
8274293633otherFamilial_colorectal_cancer.0.4359HET Link to ClinVar
8274493635otherFamilial_colorectal_cancer.0.60144HET Link to ClinVar
8274893639otherFamilial_colorectal_cancer.0.4365HET Link to ClinVar
8275693647otherFamilial_colorectal_cancer.0.43091HET Link to ClinVar
8276093651otherFamilial_colorectal_cancer..HET Link to ClinVar
8276193652otherFamilial_colorectal_cancer..HET Link to ClinVar
8276693657otherFamilial_colorectal_cancer.0.4365HET Link to ClinVar
8277093661otherFamilial_colorectal_cancer.0.21346HET Link to ClinVar
8277993670otherFamilial_colorectal_cancer.0.4365HET Link to ClinVar
8279593686otherFamilial_colorectal_cancer.0.4369HET Link to ClinVar
8279993690otherFamilial_colorectal_cancer.0.4355HET Link to ClinVar
8280193692otherFamilial_colorectal_cancer.0.61941HET Link to ClinVar
8280793698otherFamilial_colorectal_cancer.0.98223HOM Link to ClinVar
8280993700otherFamilial_colorectal_cancer..HET Link to ClinVar
8281193702otherFamilial_colorectal_cancer..HET Link to ClinVar
8282393714otherFamilial_colorectal_cancer.0.60483HET Link to ClinVar
8282493715otherFamilial_colorectal_cancer.0.4379HET Link to ClinVar
8862594223otherFamilial_colorectal_cancer.0.98283HOM Link to ClinVar
8282993720otherFamilial_colorectal_cancer.0.60324HET Link to ClinVar
8283293723otherFamilial_colorectal_cancer.0.1895HET Link to ClinVar
8283693727otherFamilial_colorectal_cancer.0.43371HET Link to ClinVar
8284093731otherFamilial_colorectal_cancer.0.43111HET Link to ClinVar
8284393734otherFamilial_colorectal_cancer.0.45407HET Link to ClinVar
8284593736otherFamilial_colorectal_cancer.0.98263HOM Link to ClinVar
8284693737otherFamilial_colorectal_cancer.0.4379HET Link to ClinVar
8284793738otherFamilial_colorectal_cancer.0.4371HET Link to ClinVar
8285993750otherFamilial_colorectal_cancer.0.62101HET Link to ClinVar
8286393754otherFamilial_colorectal_cancer.0.9972HOM Link to ClinVar
8286893759otherFamilial_colorectal_cancer.0.54293HET Link to ClinVar
8286993760otherFamilial_colorectal_cancer.0.98243HOM Link to ClinVar
8287193762otherFamilial_colorectal_cancer.0.73782HET Link to ClinVar
8287893769otherFamilial_colorectal_cancer.0.4375HET Link to ClinVar
8288093771otherFamilial_colorectal_cancer.0.4383HET Link to ClinVar
8288493775otherFamilial_colorectal_cancer.0.43291HET Link to ClinVar
8288793778otherFamilial_colorectal_cancer.0.4349HET Link to ClinVar
8288993780otherFamilial_colorectal_cancer.0.43251HET Link to ClinVar
8289693787otherFamilial_colorectal_cancer.0.45587HET Link to ClinVar
8290193792otherFamilial_colorectal_cancer.0.63179HET Link to ClinVar
8291093801otherFamilial_colorectal_cancer.0.98243HOM Link to ClinVar
8291593806otherFamilial_colorectal_cancer.0.43191HET Link to ClinVar
8292493815otherFamilial_colorectal_cancer.0.4381HET Link to ClinVar
8292593816otherFamilial_colorectal_cancer.0.44549HET Link to ClinVar
8292693817otherFamilial_colorectal_cancer.0.7484HET Link to ClinVar
8292793818otherFamilial_colorectal_cancer.0.4361HET Link to ClinVar
8293493825otherFamilial_colorectal_cancer.0.52496HET Link to ClinVar
8293593826otherFamilial_colorectal_cancer.0.64916HET Link to ClinVar
8293993830otherFamilial_colorectal_cancer.0.45208HET Link to ClinVar
8294893839otherFamilial_colorectal_cancer.0.61721HET Link to ClinVar
8295093841otherFamilial_colorectal_cancer.0.43351HET Link to ClinVar
8296693857otherFamilial_colorectal_cancer.0.44309HET Link to ClinVar
8298093871otherFamilial_colorectal_cancer..HET Link to ClinVar
8301293903otherFamilial_colorectal_cancer..HET Link to ClinVar
8301893909otherFamilial_colorectal_cancer.0.46665HET Link to ClinVar
8301993910otherFamilial_colorectal_cancer.0.44988HET Link to ClinVar
8303093921otherFamilial_colorectal_cancer.0.99101HOM Link to ClinVar
8303193922otherFamilial_colorectal_cancer.0.44309HET Link to ClinVar
8303693927otherFamilial_colorectal_cancer.0.4389HET Link to ClinVar
8303793928otherFamilial_colorectal_cancer.0.4389HET Link to ClinVar
8304693937otherFamilial_colorectal_cancer.0.74661HET Link to ClinVar
8304793938otherFamilial_colorectal_cancer.0.66534HET Link to ClinVar
8304993940otherFamilial_colorectal_cancer.0.4381HET Link to ClinVar
8307093961otherFamilial_colorectal_cancer.0.44189HET Link to ClinVar
8307193962otherFamilial_colorectal_cancer.0.4349HET Link to ClinVar
8307393964otherFamilial_colorectal_cancer.0.73922HET Link to ClinVar
8307593966otherFamilial_colorectal_cancer.0.43231HET Link to ClinVar
8308193972otherFamilial_colorectal_cancer.0.4361HET Link to ClinVar
8308993980otherFamilial_colorectal_cancer.0.78514HET Link to ClinVar
8311094001otherFamilial_colorectal_cancer.0.69469HET Link to ClinVar
8311294003otherFamilial_colorectal_cancer.0.74661HET Link to ClinVar
8311394004otherFamilial_colorectal_cancer.0.69509HET Link to ClinVar
8311894009otherFamilial_colorectal_cancer.0.73722HET Link to ClinVar
8312194012otherFamilial_colorectal_cancer.0.70567HET Link to ClinVar
8312794018otherFamilial_colorectal_cancer.0.73722HET Link to ClinVar
8312894019otherFamilial_colorectal_cancer.0.68391HET Link to ClinVar
8313694027otherFamilial_colorectal_cancer.0.67911HET Link to ClinVar
8313994030otherFamilial_colorectal_cancer.0.99101HOM Link to ClinVar
8314094031otherFamilial_colorectal_cancer.0.4357HET Link to ClinVar
8314294033otherFamilial_colorectal_cancer.0.81629HET Link to ClinVar
8315294043otherFamilial_colorectal_cancer.0.4381HET Link to ClinVar
8315794048otherFamilial_colorectal_cancer.0.49701HET Link to ClinVar
4223851408BenignHepatocellular_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
0.577980.50998HET Link to ClinVar
8316294053otherFamilial_colorectal_cancer.0.67412HET Link to ClinVar
4223951409BenignHereditary_cancer-predisposing_syndrome
Familial_adenomatous_polyposis_1
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided
0.648110.66613HET Link to ClinVar
8316394054otherFamilial_colorectal_cancer.0.4399HET Link to ClinVar
8318194072otherFamilial_colorectal_cancer.0.43211HET Link to ClinVar
8318294073otherFamilial_colorectal_cancer.0.6901HET Link to ClinVar
8318394074otherFamilial_colorectal_cancer.0.43391HET Link to ClinVar
8318494075otherFamilial_colorectal_cancer.0.62001HET Link to ClinVar
8318594076otherFamilial_colorectal_cancer.0.62061HET Link to ClinVar
8318694077otherFamilial_colorectal_cancer.0.62021HET Link to ClinVar
8318794078otherFamilial_colorectal_cancer.0.62001HET Link to ClinVar
8319694087otherFamilial_colorectal_cancer.0.73722HET Link to ClinVar
8320994100otherFamilial_colorectal_cancer..HET Link to ClinVar
8322694117otherFamilial_colorectal_cancer.0.67752HET Link to ClinVar
8322894119otherFamilial_colorectal_cancer.0.67552HET Link to ClinVar
8322994120otherFamilial_colorectal_cancer.0.5006HET Link to ClinVar
4224251412BenignHereditary_cancer-predisposing_syndrome
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided
0.648570.66554HET Link to ClinVar
4224351413BenignHereditary_cancer-predisposing_syndrome
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided
0.651390.66673HET Link to ClinVar
4224551415BenignHereditary_cancer-predisposing_syndrome
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided
.0.66693HET Link to ClinVar
2103033882BenignHereditary_cancer-predisposing_syndrome
Familial_adenomatous_polyposis_1
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided
0.798110.86542HOM Link to ClinVar
4224751417BenignHereditary_cancer-predisposing_syndrome
Familial_colorectal_cancer
not_specified
APC-Associated_Polyposis_Disorders
not_provided
0.648810.66653HET Link to ClinVar
350430300417BenignAPC-Associated_Polyposis_Disorders..HET Link to ClinVar
8326094151BenignFamilial_colorectal_cancer
APC-Associated_Polyposis_Disorders
.0.4369HET Link to ClinVar
8326294153BenignFamilial_colorectal_cancer
APC-Associated_Polyposis_Disorders
.0.44189HET Link to ClinVar
8326394154BenignFamilial_colorectal_cancer
APC-Associated_Polyposis_Disorders
.0.69728HET Link to ClinVar
8326894159otherFamilial_colorectal_cancer.0.69768HET Link to ClinVar
8327294163otherFamilial_colorectal_cancer.0.69768HET Link to ClinVar
8327594166otherFamilial_colorectal_cancer.0.51757HET Link to ClinVar
8327694167otherFamilial_colorectal_cancer.0.44669HET Link to ClinVar
8328494175otherFamilial_colorectal_cancer.0.46286HET Link to ClinVar
8329294183otherFamilial_colorectal_cancer.0.70567HET Link to ClinVar
8329694187otherFamilial_colorectal_cancer.0.70627HET Link to ClinVar
8329794188otherFamilial_colorectal_cancer.0.70587HET Link to ClinVar
8329894189otherFamilial_colorectal_cancer.0.44629HET Link to ClinVar
8330094191otherFamilial_colorectal_cancer.0.72923HET Link to ClinVar
769303777467Benignnot_provided..HOM Link to ClinVar
769304698737Benignnot_provided..HET Link to ClinVar
350457294951BenignBifunctional_peroxisomal_enzyme_deficiency
Perrault_syndrome
.0.40635HET Link to ClinVar
198079195240BenignBifunctional_peroxisomal_enzyme_deficiency
Perrault_syndrome
not_specified
not_provided
0.440040.36262HET Link to ClinVar
226667229226BenignBifunctional_peroxisomal_enzyme_deficiency
Perrault_syndrome
not_specified
not_provided
0.410990.40016HET Link to ClinVar
350475296734BenignBifunctional_peroxisomal_enzyme_deficiency
Perrault_syndrome
..HET Link to ClinVar
1436329402BenignLYSYL_OXIDASE_POLYMORPHISM0.172810.15675HET Link to ClinVar
769305698749Benignnot_provided..HET Link to ClinVar
350520295016BenignPyridoxine-dependent_epilepsy.0.47185HOM Link to ClinVar
350531300529BenignPyridoxine-dependent_epilepsy.0.48562HOM Link to ClinVar
350545296855Uncertain_significancePyridoxine-dependent_epilepsy..HOM Link to ClinVar
350549300605BenignPyridoxine-dependent_epilepsy..HOM Link to ClinVar
350560295051BenignPyridoxine-dependent_epilepsy.0.49161HOM Link to ClinVar
350571300644BenignPyridoxine-dependent_epilepsy.0.57588HOM Link to ClinVar
350580300539BenignPyridoxine-dependent_epilepsy.0.36062HOM Link to ClinVar
670821660644Benignnot_provided..HOM Link to ClinVar
667962660703Benignnot_provided..HOM Link to ClinVar
674701660704Benignnot_provided..HOM Link to ClinVar
350588300549Benign/Likely_benignPyridoxine-dependent_epilepsy0.034230.01238HET Link to ClinVar
350622300706BenignLeukodystrophy,_Adult-Onset0.675130.67272HOM Link to ClinVar
350623300712BenignLeukodystrophy,_Adult-Onset.0.44788HOM Link to ClinVar
350631295112Likely_benignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset.0.34066HET Link to ClinVar
683157660863Benignnot_provided..HOM Link to ClinVar
683182660679Benignnot_provided..HET Link to ClinVar
262060251627BenignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset
not_specified
0.944720.97344HOM Link to ClinVar
683183660509Benignnot_provided..HET Link to ClinVar
671490660683Benignnot_provided..HET Link to ClinVar
262065251629Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset
not_specified
0.162390.19149HET Link to ClinVar
671492660868Benignnot_provided..HET Link to ClinVar
671513660775Benignnot_provided..HET Link to ClinVar
262075251637Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset
not_specified
0.141960.12061HET Link to ClinVar
262076251638Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset
not_specified
0.527510.378HET Link to ClinVar
350677300797BenignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset.0.64157HOM Link to ClinVar
350681300798Likely_benignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset.0.08087HET Link to ClinVar
350700295172Likely_benignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset.0.24581HET Link to ClinVar
350703300658BenignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset.0.63978HOM Link to ClinVar
350713297005Likely_benignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset..HOM Link to ClinVar
350717300673BenignMyopathy,_areflexia,_respiratory_distress,_and_dysphagia,_early-onset.0.64717HOM Link to ClinVar
350743295239BenignCongenital_contractural_arachnodactyly.0.98562HOM Link to ClinVar
683537660909Benignnot_provided..HOM Link to ClinVar
678490660546Benignnot_provided..HOM Link to ClinVar
683536660914Benignnot_provided..HOM Link to ClinVar
672325660922Benignnot_provided..HOM Link to ClinVar
129049134495BenignCongenital_contractural_arachnodactyly
not_specified
Cardiovascular_phenotype
0.728110.72664HOM Link to ClinVar
137347141050BenignCongenital_contractural_arachnodactyly
not_specified
not_provided
0.518420.35763HOM Link to ClinVar
137345141048BenignCongenital_contractural_arachnodactyly
not_specified
not_provided
0.196830.14417HOM Link to ClinVar
672323660957Benignnot_provided..HOM Link to ClinVar
673344660801Benignnot_provided..HET Link to ClinVar
671004660745Benignnot_provided..HOM Link to ClinVar
672322660807Benignnot_provided..HOM Link to ClinVar
672321660965Benignnot_provided..HOM Link to ClinVar
683531660969Benignnot_provided..HOM Link to ClinVar
672318660562Benignnot_provided..HOM Link to ClinVar
683530660564Benignnot_provided..HOM Link to ClinVar
669972660762Benignnot_provided..HET Link to ClinVar
678489660847Benignnot_provided..HOM Link to ClinVar
683529660785Benignnot_provided..HOM Link to ClinVar
129039134485BenignCongenital_contractural_arachnodactyly
not_specified
Cardiovascular_phenotype
not_provided
0.723390.73103HOM Link to ClinVar
669639660991Benignnot_provided..HET Link to ClinVar
674265660866Benignnot_provided..HET Link to ClinVar
674264660995Benignnot_provided..HET Link to ClinVar
350798295269BenignCongenital_contractural_arachnodactyly.0.4375HET Link to ClinVar
675097660812Benignnot_provided..HET Link to ClinVar
774633698766Benignnot_provided..HET Link to ClinVar
575020789BenignSLC22A4_POLYMORPHISM0.291270.13439HET Link to ClinVar
350806300783BenignRenal_carnitine_transport_defect.0.73303HET Link to ClinVar
9409999999BenignRenal_carnitine_transport_defect
not_specified
not_provided
0.496830.48622HET Link to ClinVar
670572661014Benignnot_provided..HET Link to ClinVar
2538236716BenignRenal_carnitine_transport_defect
not_specified
not_provided
11HOM Link to ClinVar
2538336717BenignRenal_carnitine_transport_defect.0.48602HET Link to ClinVar
94101100001BenignRenal_carnitine_transport_defect
not_specified
not_provided
0.439260.48622HET Link to ClinVar
94102100002BenignRenal_carnitine_transport_defect
not_specified
not_provided
0.43990.48602HET Link to ClinVar
670106660900Benignnot_provided..HOM Link to ClinVar
670107660851Benignnot_provided..HOM Link to ClinVar
350820300792BenignRenal_carnitine_transport_defect..HOM Link to ClinVar
350827300804BenignRenal_carnitine_transport_defect.0.74421HOM Link to ClinVar
350831300759BenignRenal_carnitine_transport_defect.0.76737HOM Link to ClinVar
1467329712risk_factorAllergic_rhinitis,_susceptibility_to
Asthma,_susceptibility_to
0.733630.73003HET Link to ClinVar
137459141162Benignnot_specified0.142630.13478HET Link to ClinVar
350851295333Likely_benignMitochondrial_complex_III_deficiency,_nuclear_type_1.0.10543HET Link to ClinVar
350852300854Likely_benignMitochondrial_complex_III_deficiency,_nuclear_type_1.0.17073HET Link to ClinVar
350854295343Likely_benignMitochondrial_complex_III_deficiency,_nuclear_type_1.0.04792HET Link to ClinVar
286868271105Benignnot_specified0.300140.31989HET Link to ClinVar
218643215308Benignnot_specified0.009230.00379HET Link to ClinVar
350923301103BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.6266HET Link to ClinVar
350942297212BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.6268HET Link to ClinVar
350943297218BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.30032HET Link to ClinVar
350956301170BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.1236HET Link to ClinVar
350965301186BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.29553HET Link to ClinVar
350976295447Uncertain_significancePseudohypoaldosteronism_type_1_autosomal_dominant..HET Link to ClinVar
260809251708BenignPseudohypoaldosteronism_type_1_autosomal_dominant
not_specified
0.79260.82808HET Link to ClinVar
167317177851BenignMyofibrillar_myopathy_3
not_specified
0.99591.HOM Link to ClinVar
667621661034Benignnot_provided..HOM Link to ClinVar
770357777510Benignnot_provided..HET Link to ClinVar
670083660862Benignnot_provided..HET Link to ClinVar
670082660653Benignnot_provided..HET Link to ClinVar
670081660870Benignnot_provided..HET Link to ClinVar
670080660657Benignnot_provided..HET Link to ClinVar
670079660912Benignnot_provided..HET Link to ClinVar
96085101979BenignMarinesco-Sjögren_syndrome
not_specified
not_provided
0.435440.42692HET Link to ClinVar
351111297367BenignDistal_myopathy0.632490.42033HET Link to ClinVar
351117297372BenignDistal_myopathy..HET Link to ClinVar
263207251790BenignDistal_myopathy
not_specified
.0.44649HET Link to ClinVar
351158301471BenignDistal_myopathy0.62354.HET Link to ClinVar
351170297420BenignDistal_myopathy0.657410.39996HET Link to ClinVar
403550389615BenignSting-associated_vasculopathy,_infantile-onset
not_specified
0.875990.8728HOM Link to ClinVar
403551389619Benignnot_specified.0.42851HOM Link to ClinVar
671555660924Benignnot_provided..HOM Link to ClinVar
769659698859Benignnot_provided..HET Link to ClinVar
768037698871Benignnot_provided..HET Link to ClinVar
768038698873Benignnot_provided..HET Link to ClinVar
351285301552Uncertain_significanceNonsyndromic_Hearing_Loss,_Mixed.0.0006HET Link to ClinVar
683199660930Likely_benignnot_provided..HET Link to ClinVar
512678501336Benignnot_specified..HOM Link to ClinVar
351314301396Likely_benignGlucocorticoid_resistance,_generalized.0.08387HET Link to ClinVar
351321301406Likely_benignGlucocorticoid_resistance,_generalized.0.40156HET Link to ClinVar
214569211128Benignnot_specified0.002930.0022HET Link to ClinVar
684159660876Benignnot_provided..HOM Link to ClinVar
671557660882Benignnot_provided..HOM Link to ClinVar
684157661069Benignnot_provided..HOM Link to ClinVar
684150661071Benignnot_provided..HOM Link to ClinVar
684148661081Benignnot_provided..HOM Link to ClinVar
684146660699Benignnot_provided..HOM Link to ClinVar
684138660705Benignnot_provided..HOM Link to ClinVar
684128660997Benignnot_provided..HOM Link to ClinVar
673294660897Benignnot_provided..HET Link to ClinVar
260048251798Benign/Likely_benignNetherton_syndrome
not_specified
0.048220.06689HET Link to ClinVar
677108660925Benignnot_provided..HET Link to ClinVar
667627661089Benignnot_provided..HOM Link to ClinVar
139254142957Benign/Likely_benignNetherton_syndrome
not_specified
0.044230.05232HET Link to ClinVar
673397660932Benignnot_provided..HET Link to ClinVar
673297660721Benignnot_provided..HET Link to ClinVar
677116660723Benignnot_provided..HET Link to ClinVar
139258142961BenignNetherton_syndrome
not_specified
0.21190.34824HET Link to ClinVar
677118660736Benignnot_provided..HET Link to ClinVar
139261142964Benign/Likely_benignNetherton_syndrome
not_specified
0.044780.05391HET Link to ClinVar
674424661102Benignnot_provided..HET Link to ClinVar
677139661106Benignnot_provided..HET Link to ClinVar
667633661129Benignnot_provided..HET Link to ClinVar
139263142966BenignNetherton_syndrome
not_specified
0.808480.82927HET Link to ClinVar
674283661132Benignnot_provided..HET Link to ClinVar
351541295922Benign/Likely_benignNetherton_syndrome0.024710.01018HET Link to ClinVar
351546295931BenignNetherton_syndrome0.411670.49101HOM Link to ClinVar
351549301666BenignNetherton_syndrome.0.49101HOM Link to ClinVar
351553295937BenignNetherton_syndrome.0.49101HOM Link to ClinVar
225937227753drug_responsesalbutamol_response_-_Efficacy
salmeterol_response_-_Efficacy
0.420360.47564HET Link to ClinVar
351562301872Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
..HET Link to ClinVar
351593296006BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.80232HET Link to ClinVar
351594296012Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.47165HET Link to ClinVar
351605301704Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.50919HET Link to ClinVar
351609301939BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.79732HET Link to ClinVar
351616296023BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.6234HET Link to ClinVar
351622297801BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.78814HET Link to ClinVar
351634297822Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.46126HET Link to ClinVar
351643301736BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.61801HET Link to ClinVar
351645297828BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.79812HET Link to ClinVar
351658302017Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.19728HET Link to ClinVar
351661302031Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.49361HET Link to ClinVar
351664301788Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.19788HET Link to ClinVar
351694301849BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.52975HET Link to ClinVar
351748301874Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
..HET Link to ClinVar
351758301896Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.19828HET Link to ClinVar
351761302127Uncertain_significanceMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
..HET Link to ClinVar
351769301906Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.49221HET Link to ClinVar
351801301946Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.20288HET Link to ClinVar
351808302199BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.52915HET Link to ClinVar
351835297965Uncertain_significanceMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.00719HET Link to ClinVar
351839301974Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.34964HET Link to ClinVar
351841302232BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.99042HOM Link to ClinVar
351843302233BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.52975HET Link to ClinVar
351848297978Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
..HET Link to ClinVar
351866297984Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.20347HET Link to ClinVar
351868297996Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
.0.20367HET Link to ClinVar
351874301987Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
0.291910.3127HET Link to ClinVar
130299135746Benign/Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
.0.38339HET Link to ClinVar
670077661049Benignnot_provided..HET Link to ClinVar
673389660956Benignnot_provided..HET Link to ClinVar
671720660749Benignnot_provided..HET Link to ClinVar
672628660966Benignnot_provided..HET Link to ClinVar
130298135745BenignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.978470.99062HOM Link to ClinVar
130297135744Benign/Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
.0.19629HET Link to ClinVar
130296135743Benign/Likely_benignMononeuropathy_of_the_Median_Nerve
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.445610.4371HET Link to ClinVar
670074661150Benignnot_provided..HOM Link to ClinVar
684359661051Benignnot_provided..HOM Link to ClinVar
684358661057Benignnot_provided..HOM Link to ClinVar
203917078BenignObesity,_variation_in0.096190.10963HET Link to ClinVar
351948298082Likely_benignRetinitis_Pigmentosa,_Recessive.0.53914HET Link to ClinVar
351954302356Likely_benignRetinitis_Pigmentosa,_Recessive.0.54633HET Link to ClinVar
351962296264Likely_benignRetinitis_Pigmentosa,_Recessive.0.5597HET Link to ClinVar
351970298085BenignRetinitis_Pigmentosa,_Recessive.0.58406HET Link to ClinVar
351971302383BenignRetinitis_Pigmentosa,_Recessive.0.59625HET Link to ClinVar
351972296270BenignRetinitis_Pigmentosa,_Recessive.0.58427HET Link to ClinVar
351975302132Likely_benignRetinitis_Pigmentosa,_Recessive..HET Link to ClinVar
138632142335Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.199820.249HET Link to ClinVar
138637142340Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Recessive
.0.28255HET Link to ClinVar
6555976467Benign/Likely_benignAchondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Achondrogenesis,_type_IB
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis_type_2
Atelosteogenesis
not_specified
0.016920.00759HET Link to ClinVar
196209193370BenignAchondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis
not_specified
not_provided
0.99277.HOM Link to ClinVar
352046302205BenignAchondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis
.0.27396HET Link to ClinVar
352075302455BenignAchondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis
.0.99201HOM Link to ClinVar
352088302486BenignAchondrogenesis
Osteochondrodysplasia
Diastrophic_dysplasia
Multiple_epiphyseal_dysplasia_4
Atelosteogenesis
..HET Link to ClinVar
352107302554BenignHereditary_diffuse_leukoencephalopathy_with_spheroids.0.11601HET Link to ClinVar
352114302563BenignHereditary_diffuse_leukoencephalopathy_with_spheroids.0.45228HET Link to ClinVar
352165302347BenignHereditary_diffuse_leukoencephalopathy_with_spheroids0.515310.38738HOM Link to ClinVar
352179302657BenignHereditary_diffuse_leukoencephalopathy_with_spheroids0.487180.33526HOM Link to ClinVar
258779251818Benignnot_specified0.347430.28534HET Link to ClinVar
258778251819Benignnot_specified0.35640.29892HET Link to ClinVar
712760721302Likely_benignnot_provided..HET Link to ClinVar
258776251821Benignnot_specified0.287120.23642HET Link to ClinVar
465196454819BenignSpastic_paraplegia0.034110.02436HET Link to ClinVar
352189296414BenignTreacher_Collins_Syndrome,_Dominant.0.9994HOM Link to ClinVar
130570136016Benign/Likely_benignnot_specified
Treacher_Collins_Syndrome,_Dominant
not_provided
0.008750.02276HET Link to ClinVar
130571136017Benign/Likely_benignnot_specified
Treacher_Collins_Syndrome,_Dominant
.0.08147HET Link to ClinVar
130574136020Benignnot_specified
Treacher_Collins_Syndrome,_Dominant
0.292180.22404HET Link to ClinVar
130575136021Benign/Likely_benignTreacher_Collins_syndrome_1
not_specified
Treacher_Collins_Syndrome,_Dominant
not_provided
0.023080.01078HET Link to ClinVar
3071639673PathogenicInflammatory_bowel_disease_190.19130.30371HET Link to ClinVar
167150176964BenignTay-Sachs_disease,_variant_AB
not_specified
not_provided
0.66450.66394HET Link to ClinVar
167151177227BenignTay-Sachs_disease,_variant_AB
not_specified
not_provided
0.762270.86022HET Link to ClinVar
352259302730BenignTay-Sachs_disease,_variant_AB0.444370.44349HET Link to ClinVar
352277296480BenignTay-Sachs_disease,_variant_AB.0.71066HET Link to ClinVar
352278302473BenignTay-Sachs_disease,_variant_AB..HET Link to ClinVar
352281296485BenignTay-Sachs_disease,_variant_AB..HET Link to ClinVar
352284302476BenignTay-Sachs_disease,_variant_AB.0.28894HOM Link to ClinVar
352291298381BenignTay-Sachs_disease,_variant_AB.0.46406HOM Link to ClinVar
352300298400BenignTay-Sachs_disease,_variant_AB..HOM Link to ClinVar
352328296512BenignHyperekplexia.0.41613HET Link to ClinVar
4811457278BenignDelta-sarcoglycanopathy
not_specified
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.46046HET Link to ClinVar
670058661163Benignnot_provided..HET Link to ClinVar
672529660756Benignnot_provided..HET Link to ClinVar
672039660763Benignnot_provided..HET Link to ClinVar
4812557289BenignLimb-girdle_muscular_dystrophy,_type_2F
Delta-sarcoglycanopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.466050.48542HET Link to ClinVar
672040661076Benignnot_provided..HET Link to ClinVar
672041661077Benignnot_provided..HOM Link to ClinVar
672042661000Benignnot_provided..HOM Link to ClinVar
352353302542BenignDelta-sarcoglycanopathy
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.20727HOM Link to ClinVar
352430302910BenignDelta-sarcoglycanopathy
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.92712HOM Link to ClinVar
352488296664BenignLymphoproliferative_syndrome.0.83347HOM Link to ClinVar
257433251833BenignCongenital_ichthyosiform_erythroderma
not_specified
0.50.44249HET Link to ClinVar
257436251834BenignCongenital_ichthyosiform_erythroderma
not_specified
0.534660.50459HET Link to ClinVar
257434251835BenignCongenital_ichthyosiform_erythroderma
not_specified
0.976710.98682HOM Link to ClinVar
352526303000Likely_benignCongenital_ichthyosiform_erythroderma.0.03874HET Link to ClinVar
352532303001Likely_benignCongenital_ichthyosiform_erythroderma.0.03874HET Link to ClinVar
352538302695BenignCongenital_ichthyosiform_erythroderma.0.50539HET Link to ClinVar
352543298563BenignCongenital_ichthyosiform_erythroderma.0.90695HOM Link to ClinVar
352548303014Likely_benignCongenital_ichthyosiform_erythroderma.0.04932HET Link to ClinVar
352551302697Likely_benignCongenital_ichthyosiform_erythroderma.0.02476HET Link to ClinVar
352554303018BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_Recessive.0.92033HOM Link to ClinVar
352569298595BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_Recessive.0.35903HET Link to ClinVar
668791661194Benignnot_provided..HET Link to ClinVar
352592296742Likely_benignJuvenile_myoclonic_epilepsy.0.17951HET Link to ClinVar
670653661208Benignnot_provided..HET Link to ClinVar
668790661040Benignnot_provided..HET Link to ClinVar
668949661209Benignnot_provided..HET Link to ClinVar
256816251837Benignnot_specified0.107620.07688HET Link to ClinVar
9343199338Benign/Likely_benignJuvenile_myoclonic_epilepsy
not_specified
0.619140.59605HOM Link to ClinVar
681725661046Benignnot_provided..HET Link to ClinVar
352608302875Likely_benignJuvenile_myoclonic_epilepsy.0.58107HET Link to ClinVar
352614302888Likely_benignJuvenile_myoclonic_epilepsy.0.58047HET Link to ClinVar
352637298652Conflicting_interpretations_of_pathogenicitySeizures
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
..HET Link to ClinVar
9343499341BenignSeizures
Familial_febrile_seizures_8
Generalized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
not_specified
not_provided
0.285410.37161HET Link to ClinVar
681742661109Benignnot_provided..HET Link to ClinVar
585903576800Benignnot_provided0.820580.82129HOM Link to ClinVar
675185661217Benignnot_provided..HET Link to ClinVar
680292661221Benignnot_provided..HOM Link to ClinVar
674989661056Benignnot_provided..HET Link to ClinVar
352655298702BenignGeneralized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
.0.37939HET Link to ClinVar
352656302924BenignGeneralized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
.0.51458HET Link to ClinVar
352671296799BenignGeneralized_epilepsy_with_febrile_seizures_plus
Severe_myoclonic_epilepsy_in_infancy
.0.30232HET Link to ClinVar
121316252associationMemory_quantitative_trait_locus.0.52057HET Link to ClinVar
380030368366BenignLeukodystrophy,_hypomyelinating,_9
not_specified
.0.68031HET Link to ClinVar
683648661245Benignnot_provided..HET Link to ClinVar
673398661136Benignnot_provided..HET Link to ClinVar
380005368381Benignnot_specified0.677110.78415HET Link to ClinVar
802175790535BenignImmunodeficiency_40..HOM Link to ClinVar
260212251840BenignPendred_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Mixed
0.90890.92951HOM Link to ClinVar
352717298785BenignPendred_syndrome
Nonsyndromic_Hearing_Loss,_Mixed
.0.91673HOM Link to ClinVar
352719303136Likely_benignPendred_syndrome
Nonsyndromic_Hearing_Loss,_Mixed
.0.86861HET Link to ClinVar
352729303002BenignFrank_Ter_Haar_syndrome.0.6855HOM Link to ClinVar
352738303009Likely_benignFrank_Ter_Haar_syndrome.0.11122HET Link to ClinVar
352747298798BenignFrank_Ter_Haar_syndrome.0.71586HOM Link to ClinVar
352753296845BenignFrank_Ter_Haar_syndrome..HET Link to ClinVar
352755298803BenignFrank_Ter_Haar_syndrome.0.5647HET Link to ClinVar
352758296848BenignFrank_Ter_Haar_syndrome.0.58946HET Link to ClinVar
352766298810BenignFrank_Ter_Haar_syndrome.0.5611HET Link to ClinVar
352770303251BenignFrank_Ter_Haar_syndrome.0.55272HET Link to ClinVar
352774296852BenignFrank_Ter_Haar_syndrome.0.61342HET Link to ClinVar
352775296861BenignFrank_Ter_Haar_syndrome.0.68331HET Link to ClinVar
352777303090BenignFrank_Ter_Haar_syndrome.0.70308HET Link to ClinVar
352786298829BenignFrank_Ter_Haar_syndrome.0.54932HET Link to ClinVar
593782584845Uncertain_significancenot_provided0.00016.HET Link to ClinVar
257058251843BenignFrank_Ter_Haar_syndrome
not_specified
not_provided
0.741290.78275HET Link to ClinVar
257056251844BenignFrank_Ter_Haar_syndrome
not_specified
0.361270.3746HET Link to ClinVar
352831303303Likely_benignFrank_Ter_Haar_syndrome.0.04253HET Link to ClinVar
352832303304BenignFrank_Ter_Haar_syndrome.0.21665HET Link to ClinVar
4483754004Benignnot_specified
Cardiovascular_phenotype
0.405220.53574HOM Link to ClinVar
258657251846BenignCraniosynostosis
Enlarged_parietal_foramina
Parietal_foramina_1
not_specified
.0.76578HET Link to ClinVar
352849303322BenignCraniosynostosis
Enlarged_parietal_foramina
.0.78095HET Link to ClinVar
352858298886BenignCraniosynostosis
Enlarged_parietal_foramina
..HOM Link to ClinVar
352862303333BenignCraniosynostosis
Enlarged_parietal_foramina
.0.77596HET Link to ClinVar
352863298892BenignCraniosynostosis
Enlarged_parietal_foramina
.0.77576HET Link to ClinVar
352864298907BenignCraniosynostosis
Enlarged_parietal_foramina
.0.82987HET Link to ClinVar
511081501106Likely_benignnot_specified0.680070.75539HOM Link to ClinVar
1632631365PathogenicCancer_progression_and_tumor_cell_motility0.320980.29952HET Link to ClinVar
667729661172Benignnot_provided..HOM Link to ClinVar
802180790540BenignSotos_syndrome_1..HET Link to ClinVar
96035101929BenignSotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.299910.46805HET Link to ClinVar
96038101932BenignSotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.17646.HET Link to ClinVar
96042101936BenignSotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified
.0.22863HET Link to ClinVar
96043101937BenignSotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.198690.2496HET Link to ClinVar
670474661112Benignnot_provided..HOM Link to ClinVar
667732660844Benignnot_provided..HET Link to ClinVar
673609661176Likely_benignnot_provided..HET Link to ClinVar
96073101967BenignSotos_syndrome
Weaver_syndrome
History_of_neurodevelopmental_disorder
not_specified
.0.77137HET Link to ClinVar
352925297072BenignSotos_syndrome
Weaver_syndrome
.0.76398HET Link to ClinVar
352932298992BenignSotos_syndrome
Weaver_syndrome
.0.22923HET Link to ClinVar
352946303412Uncertain_significanceSotos_syndrome
Weaver_syndrome
... Link to ClinVar
352994299067Likely_benignFactor_XII_deficiency_disease
Hereditary_Angioedema
0.000730.0004HET Link to ClinVar
256310251869BenignFactor_XII_deficiency_disease
not_specified
Hereditary_Angioedema
.0.9395HOM Link to ClinVar
383778368113BenignEhlers-Danlos_syndrome_progeroid_type
not_specified
0.660840.66134HOM Link to ClinVar
678008661121BenignEhlers-Danlos_syndrome_progeroid_type
not_provided
..HOM Link to ClinVar
683273661124Benignnot_provided..HET Link to ClinVar
377547369819BenignEhlers-Danlos_syndrome_progeroid_type
not_specified
0.590310.60503HOM Link to ClinVar
678450661130Benignnot_provided..HOM Link to ClinVar
353009299071Likely_benignCombined_Pituitary_Hormone_Deficiency,_Recessive.0.22664HET Link to ClinVar
196434193595Benign/Likely_benignnot_specified
Combined_Pituitary_Hormone_Deficiency,_Recessive
not_provided
0.244980.20467HET Link to ClinVar
353016303460Benignnot_specified
Combined_Pituitary_Hormone_Deficiency,_Recessive
0.511350.50659HOM Link to ClinVar
99647105536not_providednot_provided.0.45587HOM Link to ClinVar
99629105518not_providednot_provided0.60640.54453HET Link to ClinVar
99628105517Benignnot_specified
not_provided
0.59970.53554HET Link to ClinVar
99627105516Benignnot_specified
not_provided
0.532830.50699HET Link to ClinVar
198105195266Benignnot_specified0.995190.98602HOM Link to ClinVar
99626105515Benignnot_specified
not_provided
0.52564.HET Link to ClinVar
99625105514Benignnot_specified
not_provided
0.724140.72165HOM Link to ClinVar
9343899345Benignnot_specified
not_provided
0.489060.55192HET Link to ClinVar
353048299123BenignEhlers-Danlos_syndrome_dermatosparaxis_type.0.34625HET Link to ClinVar
353064303530BenignEhlers-Danlos_syndrome_dermatosparaxis_type.0.80451HOM Link to ClinVar
353073299155BenignEhlers-Danlos_syndrome_dermatosparaxis_type.0.52456HOM Link to ClinVar
353080303573BenignEhlers-Danlos_syndrome_dermatosparaxis_type.0.52336HOM Link to ClinVar
682706660846Benignnot_provided..HOM Link to ClinVar
683136661277Benignnot_provided..HET Link to ClinVar
288085272322BenignEhlers-Danlos_syndrome_dermatosparaxis_type
not_specified
not_provided
0.311310.23123HET Link to ClinVar
288084272321BenignEhlers-Danlos_syndrome_dermatosparaxis_type
not_specified
not_provided
0.267050.22844HET Link to ClinVar
353129297224Benign/Likely_benignEhlers-Danlos_syndrome_dermatosparaxis_type
not_specified
0.172240.13578HET Link to ClinVar
353130303644BenignEhlers-Danlos_syndrome_dermatosparaxis_type
not_specified
not_provided
0.929620.92452HOM Link to ClinVar
353134299197BenignEhlers-Danlos_syndrome_dermatosparaxis_type
not_specified
not_provided
0.355420.43191HET Link to ClinVar
682686661310Benignnot_provided..HET Link to ClinVar
226018227754drug_responseaspirin_response_-_Toxicity/ADR.0.17013HOM Link to ClinVar
259189251873Benign/Likely_benignPaget_disease_of_bone
Paget_disease_of_bone_2,_early-onset
not_specified
not_provided
0.624790.69369HOM Link to ClinVar
259191251875Benign/Likely_benignPaget_disease_of_bone
Paget_disease_of_bone_2,_early-onset
not_specified
not_provided
0.611450.58726HOM Link to ClinVar
353182297272Likely_benignPaget_disease_of_bone0.626240.6879HOM Link to ClinVar
353186297284Likely_benignPaget_disease_of_bone0.632910.72284HOM Link to ClinVar
263052251885Benignnot_specified.0.08686HET Link to ClinVar
263044251893Benignnot_specified0.269970.24042HOM Link to ClinVar
263036251900Benignnot_specified0.987590.96006HOM Link to ClinVar
263033251902Benignnot_specified0.076430.09625HET Link to ClinVar
263034251903Benignnot_specified0.242250.24321HOM Link to ClinVar
263022251914Benignnot_specified0.052220.08327HET Link to ClinVar
263021251915Benignnot_specified0.053220.08606HET Link to ClinVar
263020251916Benignnot_specified0.981110.94149HOM Link to ClinVar
263072251922Benignnot_specified0.299640.21246HOM Link to ClinVar
263070251925Benignnot_specified0.033710.03235HET Link to ClinVar
160346170189AffectsSkin/hair/eye_pigmentation,_variation_in,_8.0.03674HET Link to ClinVar
769313699313Likely_benignnot_provided..HET Link to ClinVar
193213190378Benignnot_specified..HET Link to ClinVar
4413253300Benignnot_specified0.264450.21286HET Link to ClinVar
378835368891Benign/Likely_benignnot_specified
not_provided
0.548750.40056HET Link to ClinVar
680824661694Benignnot_provided..HOM Link to ClinVar
680632662253Benignnot_provided..HOM Link to ClinVar
680628661802Benignnot_provided..HET Link to ClinVar
680627662244Benignnot_provided..HET Link to ClinVar
680630662246Benignnot_provided..HET Link to ClinVar
380035370498Benignnot_specified
not_provided
0.357720.40296HOM Link to ClinVar
676278655746Benignnot_provided..HET Link to ClinVar
676277661805Benignnot_provided..HET Link to ClinVar
676237662250Benignnot_provided..HOM Link to ClinVar
680626662252Benignnot_provided..HOM Link to ClinVar
680634662254Benignnot_provided..HOM Link to ClinVar
137292140995BenignCombined_oxidative_phosphorylation_deficiency_14
not_specified
not_provided
.0.23522HET Link to ClinVar
680564661812Benignnot_provided..HET Link to ClinVar
680572662256Benignnot_provided..HOM Link to ClinVar
357650300849Likely_benignFactor_XIII_subunit_A_deficiency.0.09345HET Link to ClinVar
357662308466Likely_benignFactor_XIII_subunit_A_deficiency.0.14217HET Link to ClinVar
357663308467Likely_benignFactor_XIII_subunit_A_deficiency.0.52336HOM Link to ClinVar
255186252445Benign/Likely_benignFactor_XIII_subunit_A_deficiency
not_specified
0.20870.19389HOM Link to ClinVar
255185252446Benign/Likely_benignFactor_XIII_subunit_A_deficiency
not_specified
0.067590.07228HET Link to ClinVar
255183252448Conflicting_interpretations_of_pathogenicityFactor_XIII_subunit_A_deficiency
not_specified
not_provided
0.215960.24042HOM Link to ClinVar
255182252449Benignnot_specified0.009160.00978HET Link to ClinVar
1653231571Conflicting_interpretations_of_pathogenicityFactor_XIII_subunit_A_deficiency
Venous_thrombosis,_protection_against
Myocardial_infarction,_protection_against
not_specified
not_provided
.0.14776HET Link to ClinVar
357680300863BenignFactor_XIII_subunit_A_deficiency.0.88199HOM Link to ClinVar
683473661960Benignnot_provided..HET Link to ClinVar
668834661964Benignnot_provided..HET Link to ClinVar
683487662338Benignnot_provided..HET Link to ClinVar
137167140870Benignnot_specified0.195260.15615HET Link to ClinVar
672203662354Benignnot_provided..HET Link to ClinVar
4495254119Likely_benignnot_specified.1HOM Link to ClinVar
678481662389Benignnot_provided..HET Link to ClinVar
672130662321Benignnot_provided..HET Link to ClinVar
259381252531Benignnot_specified
not_provided
0.758640.77276HET Link to ClinVar
672132662362Benignnot_provided..HET Link to ClinVar
672133662330Benignnot_provided..HET Link to ClinVar
683475662334Benignnot_provided..HOM Link to ClinVar
671015662336Benignnot_provided..HET Link to ClinVar
4487054037Benignnot_specified
Cardiovascular_phenotype
not_provided
0.761440.77436HET Link to ClinVar
672134662341Benignnot_provided..HOM Link to ClinVar
672204662393Benignnot_provided..HET Link to ClinVar
4487754044BenignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
not_specified
Cardiovascular_phenotype
0.771790.73542HET Link to ClinVar
672205662370Benignnot_provided..HET Link to ClinVar
4488654053BenignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
not_specified
Cardiovascular_phenotype
0.243830.27516HET Link to ClinVar
672135662345Benignnot_provided..HOM Link to ClinVar
683476662347Benignnot_provided..HET Link to ClinVar
678482661994Benignnot_provided..HET Link to ClinVar
259383252533Benignnot_specified
not_provided
0.773160.74002HET Link to ClinVar
259384252534Benignnot_specified
not_provided
0.779880.76438HET Link to ClinVar
672137662353Benignnot_provided..HET Link to ClinVar
672138662000Benignnot_provided..HET Link to ClinVar
672149662355Benignnot_provided..HET Link to ClinVar
4492554092BenignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
not_specified
Cardiovascular_phenotype
not_provided
0.172410.24042HET Link to ClinVar
4494754114BenignCardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
not_specified
Cardiovascular_phenotype
not_provided
0.288060.21166HET Link to ClinVar
4496754134BenignCardiomyopathy
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
0.711670.70947HET Link to ClinVar
357973304041BenignArrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
.0.27356HET Link to ClinVar
357974308774Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Skin_fragility_woolly_hair_syndrome
Ectodermal_dysplasia_skin_fragility_syndrome
Epidermolysis_bullosa,_lethal_acantholytic
.0.00919HET Link to ClinVar
369512353741BenignHypoparathyroidism_familial_isolated.0.98562HOM Link to ClinVar
402937389713Benignnot_specified0.319890.248HOM Link to ClinVar
1665231691BenignHigh_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7
not_provided
0.234460.2474HET Link to ClinVar
262012252214Benignnot_specified.0.88838HET Link to ClinVar
262009252217BenignHermansky-Pudlak_syndrome
not_specified
0.177430.11382HET Link to ClinVar
1596131000BenignGMP_REDUCTASE_POLYMORPHISM0.54440.70627HET Link to ClinVar
128505133954Likely_benignnot_specified.0.78015HET Link to ClinVar
682615662024Benignnot_provided..HOM Link to ClinVar
516888501923Benignnot_specified0.639270.51697HOM Link to ClinVar
128343133792BenignSuccinate-semialdehyde_dehydrogenase_deficiency
not_specified
0.31950.3147HET Link to ClinVar
356135302268BenignSuccinate-semialdehyde_dehydrogenase_deficiency0.224130.19269HET Link to ClinVar
356145299675BenignSuccinate-semialdehyde_dehydrogenase_deficiency.0.38059HET Link to ClinVar
356175306974BenignSuccinate-semialdehyde_dehydrogenase_deficiency.0.26797HET Link to ClinVar
517548496515Benignnot_specified0.460840.35783HOM Link to ClinVar
517553496900Benignnot_specified0.131350.09904HET Link to ClinVar
499652491076Benignnot_specified0.807830.75399HOM Link to ClinVar
508154496434Benignnot_specified0.198460.22684HET Link to ClinVar
129225134671Benign/Likely_benignHereditary_hemochromatosis
not_specified
not_provided
0.36860.42672HET Link to ClinVar
162166171879not_providednot_provided.0.76578HOM Link to ClinVar
380148369052Benignnot_specified
not_provided
0.64170.62979HOM Link to ClinVar
380149369054Benignnot_specified
not_provided
0.32150.22205HOM Link to ClinVar
380150368843Benignnot_specified
not_provided
.0.22205HOM Link to ClinVar
380151368851Benignnot_specified
not_provided
0.320310.22205HOM Link to ClinVar
669590662185Benignnot_provided..HOM Link to ClinVar
669591662048Benignnot_provided..HOM Link to ClinVar
669592662187Benignnot_provided..HOM Link to ClinVar
669593661678Benignnot_provided..HOM Link to ClinVar
669594662051Benignnot_provided..HOM Link to ClinVar
676450661680Benignnot_provided..HOM Link to ClinVar
380153369066Benignnot_specified
not_provided
0.324680.22205HOM Link to ClinVar
380154370328BenignCombined_oxidative_phosphorylation_deficiency_20
not_specified
not_provided
0.601050.61621HOM Link to ClinVar
380155370350Benignnot_specified
not_provided
0.319650.22224HOM Link to ClinVar
380157369077BenignCombined_oxidative_phosphorylation_deficiency_20
not_specified
not_provided
0.324020.22205HOM Link to ClinVar
380158368868Benignnot_specified.0.22205HOM Link to ClinVar
380159368876Benignnot_specified
not_provided
0.605640.61582HOM Link to ClinVar
380160368601Benignnot_specified
not_provided
0.344550.22205HOM Link to ClinVar
684325662148Benignnot_provided..HOM Link to ClinVar
669595662056Benignnot_provided..HOM Link to ClinVar
380162368602Benignnot_specified
not_provided
0.329480.22304HOM Link to ClinVar
380163369083Benignnot_specified
not_provided
0.753010.70787HOM Link to ClinVar
1490729946risk_factorHIV-1_viremia,_susceptibility_to.0.36761HOM Link to ClinVar
403084389723Benignnot_specified0.483560.58247HOM Link to ClinVar
403085389660Benignnot_specified0.499980.58327HOM Link to ClinVar
1238927428risk_factorAlzheimer_disease,_susceptibility_to
Vascular_dementia,_susceptibility_to
.0.09904HOM Link to ClinVar
356272302401BenignMacular_degeneration
Atypical_hemolytic_uremic_syndrome
Complement_component_2_deficiency
0.830550.85543HOM Link to ClinVar
356318307147BenignTrichohepatoenteric_syndrome
not_specified
0.769950.81669HOM Link to ClinVar
356345302482BenignTrichohepatoenteric_syndrome
not_specified
0.782610.83966HOM Link to ClinVar
256286252221Benignnot_specified0.78912.HOM Link to ClinVar
6560876516BenignClassic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency
not_specified
not_provided
0.334080.21486HOM Link to ClinVar
261115252249Benignnot_specified0.477830.46186HOM Link to ClinVar
261173252278Benignnot_specified0.02280.00659HOM Link to ClinVar
261162252289BenignEhlers-Danlos-like_syndrome_due_to_tenascin-X_deficiency
not_specified
0.719220.69609HOM Link to ClinVar
261159252292Benignnot_specified0.690680.63998HOM Link to ClinVar
261156252295Benignnot_specified0.600820.59864HOM Link to ClinVar
261152252299Benignnot_specified0.379120.21845HOM Link to ClinVar
261150252301Benignnot_specified0.44010.39876HOM Link to ClinVar
261136252312Benignnot_specified.0.58626HOM Link to ClinVar
95242101141Benignnot_specified.0.97983HOM Link to ClinVar
4656855733Benign/Likely_benignOtospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant
0.019340.00679HOM Link to ClinVar
674800661705Benignnot_provided..HOM Link to ClinVar
674799661712Benignnot_provided..HOM Link to ClinVar
674781662156Benignnot_provided..HOM Link to ClinVar
674780661724Benignnot_provided..HOM Link to ClinVar
674779662194Benignnot_provided..HOM Link to ClinVar
674777662075Benignnot_provided..HOM Link to ClinVar
4656655731BenignOtospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant
0.756280.80531HOM Link to ClinVar
4656455729BenignOtospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant
0.786750.86941HOM Link to ClinVar
674776662077Benignnot_provided..HOM Link to ClinVar
674775662079Benignnot_provided..HOM Link to ClinVar
674774661743Benignnot_provided..HOM Link to ClinVar
4656255727BenignOtospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant
0.787090.8782HOM Link to ClinVar
262310252332Benignnot_specified
not_provided
.0.64517HOM Link to ClinVar
674772662088Benignnot_provided..HOM Link to ClinVar
4656055725BenignOtospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant
0.600650.64317HOM Link to ClinVar
262309252333Benignnot_specified
not_provided
0.782330.86921HOM Link to ClinVar
674770662162Benignnot_provided..HOM Link to ClinVar
674768662101Benignnot_provided..HOM Link to ClinVar
4655855723BenignOtospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant
0.478820.54713HOM Link to ClinVar
4655555720BenignOtospondylomegaepiphyseal_dysplasia,_autosomal_recessive
Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant
Fibrochondrogenesis_1
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Stickler_Syndrome,_Dominant
11HOM Link to ClinVar
675092661751Benignnot_provided..HOM Link to ClinVar
403518389769BenignBare_lymphocyte_syndrome_type_1
not_specified
0.568150.59125HOM Link to ClinVar
403519389749Benignnot_specified0.546520.53434HOM Link to ClinVar
130526135972BenignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
0.104670.05012HET Link to ClinVar
669588662170Benignnot_provided..HOM Link to ClinVar
669587662117Benignnot_provided..HET Link to ClinVar
671160661775Benignnot_provided..HET Link to ClinVar
356425306941BenignDiamond-Blackfan_anemia.0.9976HOM Link to ClinVar
356434302561BenignDiamond-Blackfan_anemia.0.07009HET Link to ClinVar
708924722010Benignnot_provided..HET Link to ClinVar
261434252336Benignnot_specified0.720090.77656HOM Link to ClinVar
261435252337BenignFanconi_anemia
not_specified
not_provided
.0.77796HOM Link to ClinVar
261436252338Benignnot_specified0.496560.35963HOM Link to ClinVar
94127100027BenignLeber_congenital_amaurosis
Leber_congenital_amaurosis_1
not_specified
Retinitis_Pigmentosa,_Recessive
0.821470.83846HET Link to ClinVar
286865271102BenignLeber_congenital_amaurosis
not_specified
Retinitis_Pigmentosa,_Recessive
.0.8744HET Link to ClinVar
226001227758drug_responseantidepressants_response_-_Efficacy
citalopram_response_-_Efficacy
fluoxetine_response_-_Efficacy
Selective_serotonin_reuptake_inhibitors_response_-_Efficacy
mirtazapine_response_-_Efficacy
paroxetine_response_-_Efficacy
venlafaxine_response_-_Efficacy
.0.77796HET Link to ClinVar
402546389770Benignnot_specified0.17045.HET Link to ClinVar
356545302686Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.29373HET Link to ClinVar
356546307044Likely_benignNonsyndromic_Hearing_Loss,_Recessive..HET Link to ClinVar
356552300016Likely_benignNonsyndromic_Hearing_Loss,_Recessive..HET Link to ClinVar
257572252342BenignCongenital_ichthyosiform_erythroderma
not_specified
0.375370.41833HOM Link to ClinVar
257570252345BenignCongenital_ichthyosiform_erythroderma
not_specified
0.263150.24042HET Link to ClinVar
257571252346BenignCongenital_ichthyosiform_erythroderma
not_specified
0.640170.64836HOM Link to ClinVar
789885710492Benignnot_provided..HET Link to ClinVar
414389395757BenignPrimary_ciliary_dyskinesia0.025010.02097HET Link to ClinVar
257631252347Benignnot_specified0.150250.08147HET Link to ClinVar
257626252348Benignnot_specified0.438970.49321HET Link to ClinVar
402771389763Benign/Likely_benignnot_specified
not_provided
0.005110.00419HET Link to ClinVar
257628252350Benignnot_specified0.400290.32847HET Link to ClinVar
257629252351Benignnot_specified0.394280.32867HET Link to ClinVar
356672302841BenignCombined_molybdoflavoprotein_enzyme_deficiency.0.6234HET Link to ClinVar
356684307228Likely_benignCone/cone-rod_dystrophy0.690960.66773HET Link to ClinVar
356736307298Likely_benignRetinitis_Pigmentosa,_Dominant0.637470.58486HOM Link to ClinVar
501953493377Benignnot_specified0.850380.87899HOM Link to ClinVar
356749302880Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.7514HET Link to ClinVar
356750307353Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.75439HET Link to ClinVar
356756307355Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.21446HET Link to ClinVar
356759302916Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.21446HET Link to ClinVar
356762300161Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.75439HET Link to ClinVar
356764302934Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.75459HET Link to ClinVar
356765307361Uncertain_significancePigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
..HET Link to ClinVar
138906142609Benign/Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
not_specified
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
not_provided
0.778980.75739HET Link to ClinVar
138905142608Benign/Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
not_specified
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
0.911680.94129HOM Link to ClinVar
138904142607Benign/Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
not_specified
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
0.77740.75659HET Link to ClinVar
255827252355Benignnot_specified0.219140.21206HET Link to ClinVar
9284698753Benign/Likely_benignPigmentary_retinal_dystrophy
Choroidal_Dystrophy
Patterned_dystrophy_of_retinal_pigment_epithelium
not_specified
Vitelliform_macular_dystrophy
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
0.577470.58447HET Link to ClinVar
356786300174BenignPEX6_POLYMORPHISM
Peroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
..HET Link to ClinVar
9278198688Benignnot_specified
not_provided
0.491020.49381HET Link to ClinVar
559074549606Benignnot_provided0.491040.49401HET Link to ClinVar
559075549607Benignnot_provided0.490450.4976HET Link to ClinVar
9279198698BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.377630.28974HET Link to ClinVar
9278998696BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.449350.33187HET Link to ClinVar
356808300204BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_provided
.0.33387HET Link to ClinVar
260435252368Benignnot_specified..HOM Link to ClinVar
1222327262risk_factorMicrovascular_complications_of_diabetes_1.0.67392HOM Link to ClinVar
162168171881not_providednot_provided.0.67392HOM Link to ClinVar
357026307681BenignCombined_oxidative_phosphorylation_deficiency..HOM Link to ClinVar
357032307832BenignCombined_oxidative_phosphorylation_deficiency.0.86941HOM Link to ClinVar
357033300337BenignCombined_oxidative_phosphorylation_deficiency.0.20647HET Link to ClinVar
357035300339BenignCombined_oxidative_phosphorylation_deficiency..HOM Link to ClinVar
357043307865BenignCombined_oxidative_phosphorylation_deficiency..HOM Link to ClinVar
357044307869BenignCombined_oxidative_phosphorylation_deficiency..HOM Link to ClinVar
357045307686BenignCombined_oxidative_phosphorylation_deficiency.0.86761HOM Link to ClinVar
357048303155BenignCombined_oxidative_phosphorylation_deficiency.0.86941HOM Link to ClinVar
357050307870BenignCombined_oxidative_phosphorylation_deficiency.0.86941HOM Link to ClinVar
357055303162BenignCombined_oxidative_phosphorylation_deficiency
not_provided
0.94260.86941HOM Link to ClinVar
357059300361BenignCombined_oxidative_phosphorylation_deficiency_8
Combined_oxidative_phosphorylation_deficiency
not_provided
0.70150.58267HET Link to ClinVar
682696661779Benignnot_provided..HOM Link to ClinVar
682694662242Benignnot_provided..HET Link to ClinVar
672773661782Benignnot_provided..HET Link to ClinVar
682693662137Benignnot_provided..HOM Link to ClinVar
669454662150Benignnot_provided..HET Link to ClinVar
506168496577Benignnot_specified..HET Link to ClinVar
508561496472Benignnot_specified0.234550.19629HET Link to ClinVar
508092496912Benignnot_specified
not_provided
0.046630.03614HET Link to ClinVar
508560502010Benignnot_specified0.24980.22125HET Link to ClinVar
791622955risk_factorAsthma_and_atopy,_susceptibility_to
not_provided
0.803340.8103HET Link to ClinVar
5616370802not_providednot_provided0.303260.31749HET Link to ClinVar
357156307805Uncertain_significanceFocal_segmental_glomerulosclerosis..HET Link to ClinVar
357157300455BenignFocal_segmental_glomerulosclerosis.0.60623HET Link to ClinVar
357162307991BenignFocal_segmental_glomerulosclerosis.0.95268HET Link to ClinVar
260181252387BenignFocal_segmental_glomerulosclerosis
Focal_segmental_glomerulosclerosis_3,_susceptibility_to
not_specified
0.994150.98303HOM Link to ClinVar
260183252388Benignnot_specified0.01160.04054HET Link to ClinVar
357183300480BenignFocal_segmental_glomerulosclerosis..HET Link to ClinVar
357222308038BenignFocal_segmental_glomerulosclerosis.0.53035HET Link to ClinVar
357225307895BenignFocal_segmental_glomerulosclerosis..HET Link to ClinVar
357228300504BenignFocal_segmental_glomerulosclerosis.0.94109HET Link to ClinVar
357235300512BenignMethylmalonic_acidemia.0.32927HOM Link to ClinVar
357290303422BenignChar_syndrome.0.86322HOM Link to ClinVar
357303308011Conflicting_interpretations_of_pathogenicityChar_syndrome..HOM Link to ClinVar
357319308018BenignChar_syndrome.0.73602HOM Link to ClinVar
357329308129BenignChar_syndrome.0.9393HOM Link to ClinVar
357358308144BenignAutosomal_recessive_polycystic_kidney_disease.0.6867HET Link to ClinVar
357362308048BenignAutosomal_recessive_polycystic_kidney_disease.0.75479HET Link to ClinVar
357368308051BenignAutosomal_recessive_polycystic_kidney_disease.0.88339HOM Link to ClinVar
357398308176BenignAutosomal_recessive_polycystic_kidney_disease.0.99681HOM Link to ClinVar
96376102270BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.562970.56569HET Link to ClinVar
96372102266BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.555040.55332HET Link to ClinVar
96441102335BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.404140.38598HET Link to ClinVar
96438102332Benignnot_specified0.741630.85943HET Link to ClinVar
262421252407Benignnot_specified0.433750.40016HET Link to ClinVar
96429102323BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
0.386110.36761HET Link to ClinVar
96423102317BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.43390.53894HET Link to ClinVar
96422102316BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.434170.53974HET Link to ClinVar
262412252416Benignnot_specified0.434520.53874HET Link to ClinVar
96421102315BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
.0.36761HET Link to ClinVar
262411252417Benignnot_specified.0.53774HET Link to ClinVar
262406252422Benignnot_specified0.70150.77436HET Link to ClinVar
96410102304BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.987190.95587HOM Link to ClinVar
96399102293BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.469760.35463HET Link to ClinVar
262399252426Benignnot_specified.0.41194HET Link to ClinVar
262396252429Benignnot_specified0.464950.35563HET Link to ClinVar
96386102280BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.465210.35583HET Link to ClinVar
96374102268BenignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.98830.95827HOM Link to ClinVar
96407102301Benignnot_specified0.276630.32987HET Link to ClinVar
96388102282Benign/Likely_benignAutosomal_recessive_polycystic_kidney_disease
not_specified
not_provided
0.284410.35443HET Link to ClinVar
128968134415Benign/Likely_benignJuvenile_myoclonic_epilepsy
not_specified
.0.06889HET Link to ClinVar
206317102BenignMyoclonic_epilepsy,_juvenile_1
Juvenile_myoclonic_epilepsy
not_specified
0.060510.04433HET Link to ClinVar
357489300714BenignJuvenile_myoclonic_epilepsy0.894670.89996HET Link to ClinVar
357498308225Likely_benignJuvenile_myoclonic_epilepsy0.901950.93311HET Link to ClinVar
357512300722BenignJuvenile_myoclonic_epilepsy0.894490.89996HET Link to ClinVar
357517308241BenignJuvenile_myoclonic_epilepsy..HET Link to ClinVar
357523303678Likely_benignJuvenile_myoclonic_epilepsy0.186410.12999HET Link to ClinVar
357527308245Likely_benignJuvenile_myoclonic_epilepsy0.654630.69908HET Link to ClinVar
357529300752Likely_benignJuvenile_myoclonic_epilepsy0.449150.27935HET Link to ClinVar
218139214787not_providednot_provided0.503520.59804HET Link to ClinVar
439753433587Benignnot_specified.0.06909HET Link to ClinVar
768101699626Benignnot_provided..HET Link to ClinVar
795681787557Benignnot_provided..HET Link to ClinVar
518378508818BenignNeuropathy,_hereditary_sensory_and_autonomic,_type_VI0.406050.33526HET Link to ClinVar
518379508819BenignNeuropathy,_hereditary_sensory_and_autonomic,_type_VI0.356210.32828HET Link to ClinVar
357539308257BenignNeuropathy,_hereditary_sensory_and_autonomic,_type_VI..HET Link to ClinVar
357558303702BenignNeuropathy,_hereditary_sensory_and_autonomic,_type_VI0.388660.40176HET Link to ClinVar
357579300790BenignNeuropathy,_hereditary_sensory_and_autonomic,_type_VI0.360960.33646HET Link to ClinVar
357616308408Conflicting_interpretations_of_pathogenicityNeuropathy,_hereditary_sensory_and_autonomic,_type_VI
not_provided
0.00330.003HET Link to ClinVar
9362099524Benign/Likely_benignRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
0.363240.34964HET Link to ClinVar
196616193777BenignRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
..HET Link to ClinVar
137256140959Benign/Likely_benignRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
0.286380.29133HET Link to ClinVar
195937193098Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa
Retinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided
0.004860.001HET Link to ClinVar
9361199515BenignRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
0.746970.78155HET Link to ClinVar
137272140975Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
0.035870.01617HET Link to ClinVar
9360599509BenignRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided
0.610680.64637HET Link to ClinVar
137268140971Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.161520.10423HET Link to ClinVar
137263140966Benign/Likely_benignRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
0.674630.65116HET Link to ClinVar
137262140965Benign/Likely_benignRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
0.516490.50599HOM Link to ClinVar
137261140964Benign/Likely_benignRetinitis_pigmentosa_25
not_specified
Retinitis_Pigmentosa,_Recessive
.0.17033HET Link to ClinVar
137260140963Benign/Likely_benignRetinitis_pigmentosa_25
not_specified
not_provided
.0.00859HET Link to ClinVar
357765303862BenignDisorders_of_Intracellular_Cobalamin_Metabolism.0.64597HET Link to ClinVar
357791308545BenignMultiple_Epiphyseal_Dysplasia,_Dominant
Stickler_Syndrome,_Recessive
.0.39577HET Link to ClinVar
258357252455Benignnot_specified0.381340.21865HET Link to ClinVar
677932662196Benignnot_provided..HET Link to ClinVar
258353252459BenignMultiple_Epiphyseal_Dysplasia,_Dominant
not_specified
Stickler_Syndrome,_Recessive
0.375260.32668HET Link to ClinVar
258351252460Benignnot_specified
not_provided
.0.17332HET Link to ClinVar
258352252461Benignnot_specified0.448450.40336HET Link to ClinVar
677930662260Benignnot_provided..HET Link to ClinVar
258350252462Benignnot_specified.0.36921HET Link to ClinVar
258344252467Benignnot_specified.0.8752HET Link to ClinVar
683421661848Benignnot_provided..HET Link to ClinVar
683417662291Benignnot_provided..HET Link to ClinVar
677940661850Benignnot_provided..HET Link to ClinVar
677939661854Benignnot_provided..HET Link to ClinVar
678734662262Benignnot_provided..HET Link to ClinVar
677938662200Benignnot_provided..HET Link to ClinVar
677937662306Benignnot_provided..HET Link to ClinVar
677936661862Benignnot_provided..HET Link to ClinVar
677935661876Benignnot_provided..HET Link to ClinVar
260500252483Benignnot_specified
Cone-Rod_Dystrophy,_Dominant
not_provided
.0.7518HOM Link to ClinVar
95655101552Benignnot_specified
Cone-Rod_Dystrophy,_Dominant
not_provided
0.992270.97464HOM Link to ClinVar
677182662301Benignnot_provided..HET Link to ClinVar
677183662302Benignnot_provided..HET Link to ClinVar
260498252489Benignnot_specified
Cone-Rod_Dystrophy,_Dominant
not_provided
0.212420.15875HET Link to ClinVar
357862308639BenignCone-Rod_Dystrophy,_Dominant..HET Link to ClinVar
357878303974BenignCone-Rod_Dystrophy,_Dominant.0.44329HOM Link to ClinVar
357879303981Likely_benignCone-Rod_Dystrophy,_Dominant.0.11202HET Link to ClinVar
357882303985BenignCone-Rod_Dystrophy,_Dominant..HET Link to ClinVar
357890301012Likely_benignCone-Rod_Dystrophy,_Dominant.0.12001HET Link to ClinVar
138273141976Benignnot_specified11HOM Link to ClinVar
138274141977Benignnot_specified
not_provided
0.187130.20807HET Link to ClinVar
678137662304Benignnot_provided..HOM Link to ClinVar
671625662307Benignnot_provided..HET Link to ClinVar
682640662350Benignnot_provided..HOM Link to ClinVar
671626662272Benignnot_provided..HET Link to ClinVar
678514662356Benignnot_provided..HOM Link to ClinVar
357907308706BenignSalla_disease.0.30092HET Link to ClinVar
357917308717BenignSalla_disease.0.17252HET Link to ClinVar
357919301029Likely_benignSalla_disease.0.06829HET Link to ClinVar
672112661914Benignnot_provided..HET Link to ClinVar
672111662283Benignnot_provided..HET Link to ClinVar
672110662325Benignnot_provided..HET Link to ClinVar
672021661917Benignnot_provided..HOM Link to ClinVar
672109662327Benignnot_provided..HET Link to ClinVar
672093662329Benignnot_provided..HET Link to ClinVar
357925301037BenignSalla_disease
not_provided
0.079390.0655HET Link to ClinVar
558969549614Benignnot_provided0.078370.0655HET Link to ClinVar
259341252506Benignnot_specified0.883350.88618HOM Link to ClinVar
259338252509Benignnot_specified
not_provided
0.00730.00419HET Link to ClinVar
4514754314Benignnot_specified
not_provided
0.251170.14776HOM Link to ClinVar
4513054297Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.287820.14697HOM Link to ClinVar
358027308845Likely_benignNonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.31889HOM Link to ClinVar
358034301090BenignNonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
..HOM Link to ClinVar
358049304111BenignNonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.55052HET Link to ClinVar
358056301102BenignNonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.77716HET Link to ClinVar
358085308889Likely_benignLeber_congenital_amaurosis.0.5647HET Link to ClinVar
167255177374Benign/Likely_benignLeber_congenital_amaurosis
Leber_congenital_amaurosis_1
not_specified
0.316710.35523HET Link to ClinVar
167258177112BenignLeber_congenital_amaurosis
Leber_congenital_amaurosis_1
not_specified
0.834590.89058HET Link to ClinVar
358109308913BenignLeber_congenital_amaurosis.0.89038HET Link to ClinVar
358150301166Likely_benignStargardt_Disease,_Dominant.0.08726HET Link to ClinVar
683382662388Benignnot_provided..HOM Link to ClinVar
96573102466Benignnot_specified0.443780.38778HOM Link to ClinVar
96572102465BenignMaple_syrup_urine_disease
not_specified
.0.51837HOM Link to ClinVar
683389662411Benignnot_provided..HOM Link to ClinVar
96613102506Benignnot_specified.0.69629HOM Link to ClinVar
683390662414Benignnot_provided..HOM Link to ClinVar
683392662417Benignnot_provided..HOM Link to ClinVar
683394662386Benignnot_provided..HOM Link to ClinVar
358174304288BenignMaple_syrup_urine_disease.0.71506HOM Link to ClinVar
358176304289BenignMaple_syrup_urine_disease.0.71546HOM Link to ClinVar
358177304303BenignMaple_syrup_urine_disease.0.71586HOM Link to ClinVar
358178301182BenignMaple_syrup_urine_disease.0.58986HOM Link to ClinVar
358179309048BenignMaple_syrup_urine_disease.0.95847HOM Link to ClinVar
358185309049BenignMaple_syrup_urine_disease.0.71526HOM Link to ClinVar
358188301194BenignMaple_syrup_urine_disease.0.39976HOM Link to ClinVar
358190309050BenignMaple_syrup_urine_disease.0.71546HOM Link to ClinVar
358191309058BenignMaple_syrup_urine_disease.0.71546HOM Link to ClinVar
358196304336BenignMaple_syrup_urine_disease.0.71526HOM Link to ClinVar
358198301200BenignMaple_syrup_urine_disease.0.6887HOM Link to ClinVar
358202301205BenignMaple_syrup_urine_disease.0.71526HOM Link to ClinVar
358204301207BenignMaple_syrup_urine_disease.0.71526HOM Link to ClinVar
358206309086BenignMaple_syrup_urine_disease.0.71486HOM Link to ClinVar
358208309088BenignMaple_syrup_urine_disease.0.71526HOM Link to ClinVar
358209309090BenignMaple_syrup_urine_disease.0.71526HOM Link to ClinVar
358210304346BenignMaple_syrup_urine_disease.0.71526HOM Link to ClinVar
358212304347BenignMaple_syrup_urine_disease.0.71586HOM Link to ClinVar
358213304349BenignMaple_syrup_urine_disease.0.71566HOM Link to ClinVar
681218655752Benignnot_provided..HET Link to ClinVar
672119655753Benignnot_provided..HET Link to ClinVar
802247790663BenignMulticystic_renal_dysplasia,_bilateral..HET Link to ClinVar
95391101290BenignCongenital_disorder_of_glycosylation
not_specified
.0.64597HET Link to ClinVar
484319882risk_factorCONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIf,_MODIFIER_OF..HET Link to ClinVar
358221304359BenignCongenital_disorder_of_glycosylation
Pontoneocerebellar_hypoplasia
.0.63918HET Link to ClinVar
358228301220BenignCongenital_disorder_of_glycosylation
Pontoneocerebellar_hypoplasia
.0.63858HET Link to ClinVar
671612662427Benignnot_provided..HET Link to ClinVar
683650662396Benignnot_provided..HET Link to ClinVar
683649662019Benignnot_provided..HET Link to ClinVar
671595662404Benignnot_provided..HET Link to ClinVar
358264304408BenignMitochondrial_complex_I_deficiency.0.93411HOM Link to ClinVar
358266309128Likely_benignMitochondrial_complex_I_deficiency.0.29133HOM Link to ClinVar
129692135138BenignMitochondrial_complex_I_deficiency
not_specified
not_provided
0.894420.93391HOM Link to ClinVar
358272309036Benign/Likely_benignMitochondrial_complex_I_deficiency
not_specified
not_provided
..HOM Link to ClinVar
677882662440Benignnot_provided..HOM Link to ClinVar
681227662041Benignnot_provided..HOM Link to ClinVar
354670305273BenignSchaaf-yang_syndrome.0.39876HET Link to ClinVar
354672305275Likely_benignSchaaf-yang_syndrome.0.01218HET Link to ClinVar
418019406785Benignnot_specified..HOM Link to ClinVar
129169134615Likely_benignnot_specified0.25370.41514HET Link to ClinVar
354761305215Likely_benignCoenzyme_Q10_deficiency,_primary..HET Link to ClinVar
683453661460Benignnot_provided..HET Link to ClinVar
683452661389Benignnot_provided..HOM Link to ClinVar
674100661498Likely_benignnot_provided..HET Link to ClinVar
130361135808Benignnot_specified0.988780.97963HOM Link to ClinVar
354812298570BenignPolycystic_liver_disease_1.0.92951HOM Link to ClinVar
354813305479BenignPolycystic_liver_disease_1..HOM Link to ClinVar
354821305322BenignPolycystic_liver_disease_1..HOM Link to ClinVar
354825298582BenignPolycystic_liver_disease_1.0.92871HOM Link to ClinVar
354826305329BenignPolycystic_liver_disease_1.0.92452HOM Link to ClinVar
354842300935BenignPolycystic_liver_disease_1.0.86262HOM Link to ClinVar
354859305401BenignPolycystic_liver_disease_1... Link to ClinVar
354861305408BenignPolycystic_liver_disease_1.0.75579HOM Link to ClinVar
354863300960BenignPolycystic_liver_disease_1..HOM Link to ClinVar
354865305512BenignPolycystic_liver_disease_1.0.96905HOM Link to ClinVar
354868305515BenignPolycystic_liver_disease_1.0.86242HOM Link to ClinVar
354871305516BenignPolycystic_liver_disease_1.0.86302HOM Link to ClinVar
354888305541BenignPolycystic_liver_disease_1.0.86282HOM Link to ClinVar
95474101373BenignPolycystic_liver_disease_1
not_specified
0.858880.85503HOM Link to ClinVar
354921305591BenignPolycystic_liver_disease_1.0.92572HOM Link to ClinVar
354946305473BenignOsteopetrosis.0.34405HET Link to ClinVar
354954301056BenignOsteopetrosis.0.34405HET Link to ClinVar
354961305520BenignOsteopetrosis.0.21845HET Link to ClinVar
354969301078BenignOsteopetrosis.0.21885HET Link to ClinVar
354976305637BenignOsteopetrosis.0.47644HET Link to ClinVar
781755710103Benignnot_provided..HET Link to ClinVar
220332221621Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
not_provided
0.008110.0016HET Link to ClinVar
668145661063Benignnot_provided..HET Link to ClinVar
673440661506Benignnot_provided..HET Link to ClinVar
673441661070Benignnot_provided..HET Link to ClinVar
694980683117Uncertain_significanceCharcot-Marie-Tooth_disease..HET Link to ClinVar
260451252050Benignnot_specified0.38440.33806HET Link to ClinVar
668146661491Benignnot_provided..HET Link to ClinVar
680179661500Benignnot_provided..HET Link to ClinVar
681668661393Benignnot_provided..HET Link to ClinVar
680181661395Benignnot_provided..HET Link to ClinVar
260447252054BenignCharcot-Marie-Tooth_disease,_type_4J
Amyotrophic_lateral_sclerosis_type_11
Charcot-Marie-Tooth_disease_type_4
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
not_provided
.0.35883HET Link to ClinVar
670527661436Benignnot_provided..HET Link to ClinVar
680184661442Benignnot_provided..HET Link to ClinVar
670528661078Benignnot_provided..HET Link to ClinVar
260449252056BenignCharcot-Marie-Tooth_disease_type_4
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
not_provided
0.428870.39577HET Link to ClinVar
355052298744BenignCharcot-Marie-Tooth_disease_type_4
Amyotrophic_Lateral_Sclerosis,_Dominant
.0.44828HET Link to ClinVar
403565389644Benignnot_specified0.853610.93171HET Link to ClinVar
355054298749BenignProgressive_pseudorheumatoid_dysplasia.0.23862HET Link to ClinVar
355060301225BenignProgressive_pseudorheumatoid_dysplasia0.260620.29892HET Link to ClinVar
672745661518Benignnot_provided..HET Link to ClinVar
4440553572BenignDilated_cardiomyopathy_1JJ
not_specified
0.239290.24002HET Link to ClinVar
4440653573BenignDilated_cardiomyopathy_1JJ
not_specified
.0.24002HET Link to ClinVar
672744661450Benignnot_provided..HET Link to ClinVar
672743661503Benignnot_provided..HET Link to ClinVar
672742661082Benignnot_provided..HET Link to ClinVar
673048661084Benignnot_provided..HET Link to ClinVar
4440153568BenignDilated_cardiomyopathy_1JJ
not_specified
0.267130.28175HET Link to ClinVar
678524661530Benignnot_provided..HET Link to ClinVar
678505661514Benignnot_provided..HET Link to ClinVar
671121661521Benignnot_provided..HOM Link to ClinVar
671120661527Benignnot_provided..HOM Link to ClinVar
671119661477Benignnot_provided..HET Link to ClinVar
683590661535Benignnot_provided..HET Link to ClinVar
672708661483Benignnot_provided..HOM Link to ClinVar
672707661550Benignnot_provided..HOM Link to ClinVar
4437753544BenignDilated_cardiomyopathy_1JJ
not_specified
.0.21046HET Link to ClinVar
4437653543BenignDilated_cardiomyopathy_1JJ
not_specified
0.769150.83986HOM Link to ClinVar
4437553542BenignDilated_cardiomyopathy_1JJ
not_specified
0.769370.84046HOM Link to ClinVar
671118661488Benignnot_provided..HET Link to ClinVar
673047661543Benignnot_provided..HET Link to ClinVar
677986661107Benignnot_provided..HOM Link to ClinVar
673044661561Benignnot_provided..HET Link to ClinVar
671117661590Benignnot_provided..HET Link to ClinVar
673042661591Benignnot_provided..HET Link to ClinVar
671116661501Benignnot_provided..HET Link to ClinVar
678500661128Benignnot_provided..HET Link to ClinVar
4434853515BenignDilated_cardiomyopathy_1JJ
not_specified
0.664920.75839HET Link to ClinVar
678499661618Benignnot_provided..HET Link to ClinVar
673010661620Benignnot_provided..HET Link to ClinVar
671115661508Benignnot_provided..HET Link to ClinVar
177976178204Benignnot_specified
not_provided
..HOM Link to ClinVar
672702661646Benignnot_provided..HET Link to ClinVar
355088301242Likely_benignMetaphyseal_chondrodysplasia0.026420.00399HET Link to ClinVar
256259252058BenignMetaphyseal_chondrodysplasia
Metaphyseal_chondrodysplasia,_Schmid_type
not_specified
..HOM Link to ClinVar
256260252060BenignMetaphyseal_chondrodysplasia
Metaphyseal_chondrodysplasia,_Schmid_type
not_specified
.0.21366HET Link to ClinVar
162165171878not_providednot_provided.0.44549HOM Link to ClinVar
256262252061BenignMetaphyseal_chondrodysplasia
Metaphyseal_chondrodysplasia,_Schmid_type
not_specified
0.380460.44549HOM Link to ClinVar
683469661630Benignnot_provided..HOM Link to ClinVar
384684368304Benignnot_specified0.224320.13658HET Link to ClinVar
678582661182Benignnot_provided..HET Link to ClinVar
678111661187Benignnot_provided..HOM Link to ClinVar
165061174342BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.646980.71006HET Link to ClinVar
165062174480Benign/Likely_benignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.090060.13538HET Link to ClinVar
257050252066Benignnot_specified0.064480.06789HET Link to ClinVar
355130305786Likely_benignPrimary_ciliary_dyskinesia.0.09046HET Link to ClinVar
769691699269Benignnot_provided..HOM Link to ClinVar
403328389721Benignnot_specified.0.01897HET Link to ClinVar
355141298827Likely_benignHypertrophic_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.39437HET Link to ClinVar
355176301331BenignSyndactyly
Oculodentodigital_dysplasia
Hypoplastic_left_heart_syndrome_1
..HET Link to ClinVar
355191298869BenignCatecholaminergic_polymorphic_ventricular_tachycardia.0.48403HET Link to ClinVar
355206301350BenignCatecholaminergic_polymorphic_ventricular_tachycardia.0.3758HET Link to ClinVar
355209301354Uncertain_significanceCatecholaminergic_polymorphic_ventricular_tachycardia0.00044.HET Link to ClinVar
259915252068Benignnot_specified0.425350.376HET Link to ClinVar
674826661633Benignnot_provided..HET Link to ClinVar
674825661570Benignnot_provided..HET Link to ClinVar
227114229391Benign/Likely_benignCatecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
not_provided
..HET Link to ClinVar
680815661681Benignnot_provided..HET Link to ClinVar
674818661638Benignnot_provided..HET Link to ClinVar
227111229396BenignCatecholaminergic_polymorphic_ventricular_tachycardia
not_specified
0.27490.29373HET Link to ClinVar
674816661686Benignnot_provided..HOM Link to ClinVar
227110229399BenignCatecholaminergic_polymorphic_ventricular_tachycardia
Ventricular_tachycardia,_catecholaminergic_polymorphic,_5,_with_or_without_muscle_weakness
not_specified
Cardiovascular_phenotype
.0.9393HOM Link to ClinVar
674814661647Benignnot_provided..HOM Link to ClinVar
680832661218Benignnot_provided..HET Link to ClinVar
227106229404Benign/Likely_benignCatecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
0.342310.27217HET Link to ClinVar
259914252069Benignnot_specified0.473530.47624HET Link to ClinVar
678038661596Benignnot_provided..HOM Link to ClinVar
674793661599Benignnot_provided..HOM Link to ClinVar
678159661226Benignnot_provided..HOM Link to ClinVar
680813661232Benignnot_provided..HOM Link to ClinVar
227123229411BenignCatecholaminergic_polymorphic_ventricular_tachycardia
not_specified
Cardiovascular_phenotype
0.825880.84325HOM Link to ClinVar
680811661236Benignnot_provided..HOM Link to ClinVar
674823661691Benignnot_provided..HET Link to ClinVar
680812661655Benignnot_provided..HET Link to ClinVar
674821661657Benignnot_provided..HET Link to ClinVar
674817661248Benignnot_provided..HET Link to ClinVar
674815661693Benignnot_provided..HET Link to ClinVar
674813661697Benignnot_provided..HET Link to ClinVar
674796661699Benignnot_provided..HET Link to ClinVar
674869661701Benignnot_provided..HET Link to ClinVar
674867661640Benignnot_provided..HET Link to ClinVar
355225298899Uncertain_significanceCatecholaminergic_polymorphic_ventricular_tachycardia..HET Link to ClinVar
674791661711Benignnot_provided..HET Link to ClinVar
674790661671Benignnot_provided..HET Link to ClinVar
674844661716Benignnot_provided..HET Link to ClinVar
684020661722Benignnot_provided..HOM Link to ClinVar
9295598862BenignMerosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related
0.957840.9367HOM Link to ClinVar
256079252071Benignnot_specified
not_provided
0.214580.2474HET Link to ClinVar
682904661723Benignnot_provided..HET Link to ClinVar
682907661658Benignnot_provided..HET Link to ClinVar
668910661266Benignnot_provided..HET Link to ClinVar
682915661659Benignnot_provided..HET Link to ClinVar
682917661682Benignnot_provided..HET Link to ClinVar
9294398850BenignMerosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related
0.182760.27097HET Link to ClinVar
682903661268Benignnot_provided..HET Link to ClinVar
671435661685Benignnot_provided..HET Link to ClinVar
682906661684Benignnot_provided..HET Link to ClinVar
682909661692Benignnot_provided..HET Link to ClinVar
682911661284Benignnot_provided..HET Link to ClinVar
9294998856BenignMerosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related
0.26830.3139HET Link to ClinVar
256063252086Benignnot_specified
not_provided
0.134580.18251HET Link to ClinVar
682913661729Benignnot_provided..HET Link to ClinVar
682914661698Benignnot_provided..HOM Link to ClinVar
256066252088Benignnot_specified..HET Link to ClinVar
9295198858BenignMerosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related
0.2190.35523HOM Link to ClinVar
682921661702Benignnot_provided..HET Link to ClinVar
9295298859Benign/Likely_benignMerosin_deficient_congenital_muscular_dystrophy
not_specified
Congenital_Muscular_Dystrophy,_LAMA2-related
0.068730.12001HET Link to ClinVar
671452661700Benignnot_provided..HET Link to ClinVar
682924661703Benignnot_provided..HET Link to ClinVar
196660193821Conflicting_interpretations_of_pathogenicityMerosin_deficient_congenital_muscular_dystrophy
MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_AUTOSOMAL_RECESSIVE_23
not_specified
not_provided
0.003340.0028HET Link to ClinVar
682920661740Benignnot_provided..HET Link to ClinVar
218657215327Benign/Likely_benignHistory_of_neurodevelopmental_disorder
not_specified
..HET Link to ClinVar
355347299023BenignArterial_calcification,_generalized,_of_infancy,_1
not_specified
Hypophosphatemic_Rickets,_Recessive
..HET Link to ClinVar
1359028629BenignObesity
Arterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive
.0.55471HET Link to ClinVar
355377299056BenignArterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive
.0.41274HET Link to ClinVar
355381301463BenignArterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive
.0.55371HET Link to ClinVar
355398301470BenignArterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive
.0.64756HET Link to ClinVar
355424299088BenignArterial_calcification,_generalized,_of_infancy,_1
Hypophosphatemic_Rickets,_Recessive
.0.56749HET Link to ClinVar
4477353940Benign/Likely_benignnot_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant
0.341690.40955HET Link to ClinVar
676338661797Benignnot_provided..HET Link to ClinVar
355448299116Likely_benignDilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant
0.434320.47105HET Link to ClinVar
355453299121Likely_benignDilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant
.1HOM Link to ClinVar
355455299127Likely_benignDilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant
.0.83467HOM Link to ClinVar
355467305907Likely_benignDilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant
.0.01198HET Link to ClinVar
355477306198Likely_benignDilated_Cardiomyopathy,_Dominant
Nonsyndromic_Hearing_Loss,_Dominant
.0.02855HET Link to ClinVar
132871136620Likely_pathogenicFetal_hemoglobin_quantitative_trait_locus_2.0.17532HET Link to ClinVar
95757101654BenignJoubert_syndrome
Joubert_syndrome_3
not_specified
0.628640.59485HOM Link to ClinVar
128326133775Benign/Likely_benignJoubert_syndrome
not_specified
not_provided
0.026520.01138HET Link to ClinVar
260839252135BenignJoubert_syndrome
Joubert_syndrome_3
not_specified
0.910610.82288HOM Link to ClinVar
667961661803Benignnot_provided..HOM Link to ClinVar
166664177234Benign/Likely_benignnot_specified
not_provided
0.003980.002HET Link to ClinVar
673960661813Benignnot_provided..HOM Link to ClinVar
402420389734Benignnot_specified0.49764.HET Link to ClinVar
802274790592BenignRhizomelic_chondrodysplasia_punctata_type_1..HOM Link to ClinVar
402973389720Benignnot_specified... Link to ClinVar
133990137729not_providednot_specified0.287640.27616HET Link to ClinVar
802278790596BenignLethal_congenital_contracture_syndrome_9..HOM Link to ClinVar
802279790597BenignLethal_congenital_contracture_syndrome_9..HOM Link to ClinVar
259105252147Benignnot_specified..HET Link to ClinVar
167458177938Benignnot_specified
not_provided
0.272570.32368HET Link to ClinVar
259108252150BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.442840.57089HET Link to ClinVar
355585306045Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.12899HET Link to ClinVar
355659306156BenignFamilial_hemophagocytic_lymphohistiocytosis..HOM Link to ClinVar
670732661845Benignnot_provided..HOM Link to ClinVar
95306101205BenignSeizures
Lafora_disease
not_specified
not_provided
.0.65336HET Link to ClinVar
670731655716Benignnot_provided..HET Link to ClinVar
670730655717Benignnot_provided..HOM Link to ClinVar
668132661806Benignnot_provided..HET Link to ClinVar
206217101risk_factorDiabetes_mellitus,_insulin-dependent,_50.555080.64597HET Link to ClinVar
355674306195Conflicting_interpretations_of_pathogenicityCongenital_hypothyroidism
not_provided
0.003210.00938HET Link to ClinVar
257584252155BenignIodotyrosine_deiodination_defect
not_specified
0.861470.87201HOM Link to ClinVar
355689306479Likely_benignCongenital_hypothyroidism.0.33287HET Link to ClinVar
355707306245BenignCongenital_hypothyroidism.0.8768HOM Link to ClinVar
355710299312BenignCongenital_hypothyroidism.0.80072HOM Link to ClinVar
355714299319BenignCongenital_hypothyroidism.0.63279HOM Link to ClinVar
355715306246Uncertain_significanceCongenital_hypothyroidism.0.01098HET Link to ClinVar
355731306512Likely_benignCongenital_hypothyroidism.0.29433HOM Link to ClinVar
355734306278Likely_benignCongenital_hypothyroidism..HOM Link to ClinVar
355738306280Uncertain_significanceCongenital_hypothyroidism.0.02057HET Link to ClinVar
355740306538Likely_benignCongenital_hypothyroidism.0.29213HOM Link to ClinVar
355742306289Uncertain_significanceCongenital_hypothyroidism.0.02057HET Link to ClinVar
355755306542Likely_benignCongenital_hypothyroidism.0.09066HOM Link to ClinVar
355758306545BenignCongenital_hypothyroidism.0.79772HOM Link to ClinVar
355759299355Likely_benignCongenital_hypothyroidism.0.09125HOM Link to ClinVar
355760299359Likely_benignCongenital_hypothyroidism.0.29173HOM Link to ClinVar
355761299361Likely_benignCongenital_hypothyroidism.0.29173HOM Link to ClinVar
355764301822Likely_benignCongenital_hypothyroidism.0.29173HOM Link to ClinVar
355766301834BenignCongenital_hypothyroidism..HOM Link to ClinVar
355767299366Likely_benignCongenital_hypothyroidism.0.3772HOM Link to ClinVar
355770306570Uncertain_significanceCongenital_hypothyroidism.0.02157HET Link to ClinVar
355772299376Likely_benignCongenital_hypothyroidism.0.11122HOM Link to ClinVar
355780301838Likely_benignCongenital_hypothyroidism..HET Link to ClinVar
355793306600BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
.0.19589HET Link to ClinVar
355794306312Uncertain_significanceCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
..HET Link to ClinVar
355803299385BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
.0.19589HET Link to ClinVar
130433135879BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
0.051330.02576HET Link to ClinVar
262194252156Benignnot_specified
not_provided
..HET Link to ClinVar
262193252157Benignnot_specified
not_provided
0.402280.44449HET Link to ClinVar
194305191468Benign/Likely_benignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.0006.HET Link to ClinVar
670212661868Benignnot_provided..HOM Link to ClinVar
670211661430Benignnot_provided..HET Link to ClinVar
670210661874Benignnot_provided..HET Link to ClinVar
670209661827Benignnot_provided..HOM Link to ClinVar
670206661898Benignnot_provided..HET Link to ClinVar
670205661891Benignnot_provided..HET Link to ClinVar
683973661895Benignnot_provided..HOM Link to ClinVar
130419135865Benign/Likely_benignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.992280.99561HOM Link to ClinVar
670201661922Benignnot_provided..HET Link to ClinVar
670200661927Benignnot_provided..HET Link to ClinVar
670199661468Benignnot_provided..HET Link to ClinVar
670198661833Benignnot_provided..HOM Link to ClinVar
262178252170BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
0.237450.20887HET Link to ClinVar
683971661469Benignnot_provided..HET Link to ClinVar
262177252171Benign/Likely_benignnot_specified
not_provided
..HET Link to ClinVar
670196661841Benignnot_provided..HOM Link to ClinVar
670195661843Benignnot_provided..HET Link to ClinVar
670192661478Benignnot_provided..HOM Link to ClinVar
670191661930Benignnot_provided..HOM Link to ClinVar
683953661847Benignnot_provided..HOM Link to ClinVar
262176252172Benignnot_specified0.65780.68071HOM Link to ClinVar
670190661920Benignnot_provided..HOM Link to ClinVar
670188661485Benignnot_provided..HOM Link to ClinVar
672754661925Benignnot_provided..HET Link to ClinVar
683965661950Benignnot_provided..HET Link to ClinVar
683962661938Benignnot_provided..HET Link to ClinVar
672753661941Benignnot_provided..HET Link to ClinVar
670187661860Benignnot_provided..HOM Link to ClinVar
262172252176Benignnot_specified
not_provided
0.500110.45747HOM Link to ClinVar
670185661954Benignnot_provided..HOM Link to ClinVar
670184661489Benignnot_provided..HET Link to ClinVar
670183661965Benignnot_provided..HET Link to ClinVar
683950661969Benignnot_provided..HET Link to ClinVar
683952661499Benignnot_provided..HET Link to ClinVar
130408135855BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.779740.8147HOM Link to ClinVar
130404135851BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.775970.80332HOM Link to ClinVar
262160252183BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
0.460790.41314HET Link to ClinVar
130399135846BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.754680.79313HOM Link to ClinVar
262158252186Benignnot_specified
not_provided
0.758420.79014HOM Link to ClinVar
670177661865Benignnot_provided..HET Link to ClinVar
670173661510Benignnot_provided..HET Link to ClinVar
130398135845Benign/Likely_benignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.11420.07328HET Link to ClinVar
683949661984Benignnot_provided..HET Link to ClinVar
130397135844BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.576150.54553HOM Link to ClinVar
683947661988Benignnot_provided..HOM Link to ClinVar
683945661875Benignnot_provided..HOM Link to ClinVar
683943661890Benignnot_provided..HOM Link to ClinVar
263075252188BenignSpinocerebellar_ataxia,_autosomal_recessive_8
not_specified
not_provided
0.584620.58746HOM Link to ClinVar
670171661897Benignnot_provided..HOM Link to ClinVar
355885306415BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
..HOM Link to ClinVar
670170661991Benignnot_provided..HOM Link to ClinVar
670169661953Benignnot_provided..HOM Link to ClinVar
670168661522Benignnot_provided..HOM Link to ClinVar
670167661955Benignnot_provided..HOM Link to ClinVar
262154252189BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
0.5790.5659HOM Link to ClinVar
262153252190Benignnot_specified
not_provided
.0.56749HOM Link to ClinVar
683939661901Benignnot_provided..HOM Link to ClinVar
683938661904Benignnot_provided..HOM Link to ClinVar
670165661957Benignnot_provided..HOM Link to ClinVar
683935661995Benignnot_provided..HOM Link to ClinVar
130393135840BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.579940.56829HOM Link to ClinVar
670162661528Benignnot_provided..HOM Link to ClinVar
670161661916Benignnot_provided..HOM Link to ClinVar
670160661919Benignnot_provided..HOM Link to ClinVar
130388135835BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.654120.65915HOM Link to ClinVar
262206252193Benignnot_specified
not_provided
0.873770.86362HOM Link to ClinVar
262204252195Benignnot_specified
not_provided
0.48180.41094HOM Link to ClinVar
130453135899BenignCerebellar_ataxia
Emery-Dreifuss_muscular_dystrophy
not_specified
not_provided
.0.46825HOM Link to ClinVar
683934661979Benignnot_provided..HET Link to ClinVar
683928661929Benignnot_provided..HET Link to ClinVar
670153661603Benignnot_provided..HOM Link to ClinVar
262164252207Benignnot_specified
not_provided
0.765730.85523HET Link to ClinVar
670151662098Benignnot_provided..HET Link to ClinVar
683894662107Benignnot_provided..HOM Link to ClinVar
670150661628Benignnot_provided..HOM Link to ClinVar
774186699401Benignnot_provided..HET Link to ClinVar
953824577drug_responseDrugs_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
0.18560.22344HET Link to ClinVar
671615661629Benignnot_provided..HET Link to ClinVar
680781662009Benignnot_provided..HET Link to ClinVar
680778662011Benignnot_provided..HET Link to ClinVar
387771370286Likely_benignnot_specified2e-05.HET Link to ClinVar
671702661635Benignnot_provided..HET Link to ClinVar
680779662130Benignnot_provided..HET Link to ClinVar
139094142797Benignnot_specified0.470850.40056HET Link to ClinVar
671740661642Benignnot_provided..HET Link to ClinVar
139093142796Benignnot_specified
not_provided
0.717350.71386HOM Link to ClinVar
671614662145Benignnot_provided..HOM Link to ClinVar
676193661650Benignnot_provided..HET Link to ClinVar
1475129790drug_responseSUPEROXIDE_DISMUTASE_2_POLYMORPHISM
Microvascular_complications_of_diabetes_6
cyclophosphamide_response_-_Efficacy
0.502390.41074HET Link to ClinVar
403448389722Benignnot_specified..HET Link to ClinVar
692202679944BenignOtitis_media,_susceptibility_to..HET Link to ClinVar
355998302100Likely_benignParkinson_Disease,_Juvenile.0.05771HET Link to ClinVar
356006299579Likely_benignParkinson_Disease,_Juvenile.0.09844HET Link to ClinVar
259433252218Benignnot_specified0.932920.95048HET Link to ClinVar
818123220risk_factorNeural_tube_defects,_susceptibility_to.0.79732HET Link to ClinVar
669503662016Benignnot_provided..HET Link to ClinVar
682625662113Benignnot_provided..HOM Link to ClinVar
682624662127Benignnot_provided..HOM Link to ClinVar
356027302139Benign/Likely_benignLeukoencephalopathy,_cystic,_without_megalencephaly.0.07548HET Link to ClinVar
356032302143BenignLeukoencephalopathy,_cystic,_without_megalencephaly0.173090.18451HET Link to ClinVar
356038299616Likely_benignLeukoencephalopathy,_cystic,_without_megalencephaly0.040120.02316HET Link to ClinVar
1271327752risk_factorLumbar_disc_herniation,_susceptibility_to0.368430.35563HOM Link to ClinVar
768123699457Benignnot_provided..HOM Link to ClinVar
380786368809Benignnot_specified0.15030.20707HET Link to ClinVar
668134662154Benignnot_provided..HET Link to ClinVar
130561136007Likely_benignnot_specified0.531910.61462HOM Link to ClinVar
193730190893Benignnot_specified0.473530.53115HET Link to ClinVar
193731190894Benignnot_specified.0.52536HET Link to ClinVar
260939252915Benignnot_specified0.83850.75899HOM Link to ClinVar
260922252920Benignnot_specified0.833340.82668HOM Link to ClinVar
260930252936Benignnot_specified0.430430.39137HOM Link to ClinVar
260932252938Benignnot_specified0.621090.66873HOM Link to ClinVar
792067710923Benignnot_provided..HET Link to ClinVar
591286582279Uncertain_significancenot_provided..HOM Link to ClinVar
257271252779Benignnot_specified0.040390.01997HET Link to ClinVar
257272252780Benignnot_specified0.067130.03514HET Link to ClinVar
585490576963Benignnot_provided0.389480.46146HET Link to ClinVar
446896441075Benignnot_specified
not_provided
..HET Link to ClinVar
585492576970Benignnot_provided0.178490.09625HET Link to ClinVar
402477389742Benignnot_specified0.516310.59645HET Link to ClinVar
402479389781Benignnot_specified0.679510.50539HOM Link to ClinVar
402480389794Benignnot_specified0.187910.10204HET Link to ClinVar
402481389822Benignnot_specified.0.09066HET Link to ClinVar
742980750665Benignnot_provided..HET Link to ClinVar
778294777862Benignnot_provided..HET Link to ClinVar
135065138804BenignHereditary_nonpolyposis_colorectal_cancer_type_4
not_specified
not_provided
0.851390.88319HOM Link to ClinVar
4170350142BenignHereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_4
not_specified
not_provided
.0.01098HET Link to ClinVar
595920586981Benignnot_specified.0.14916HET Link to ClinVar
9137196846BenignLynch_syndrome.0.15176HET Link to ClinVar
3669345354BenignHereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_4
not_specified
not_provided
.0.83127HOM Link to ClinVar
9128096755BenignLynch_syndrome.0.15615HET Link to ClinVar
9128496759BenignLynch_syndrome0.221180.23203HET Link to ClinVar
682708662146Benignnot_provided..HET Link to ClinVar
682704662578Benignnot_provided..HOM Link to ClinVar
359485302341BenignCongenital_Muscular_Dystrophy,_alpha-dystroglycan_related.0.33367HET Link to ClinVar
359491302352Uncertain_significanceCongenital_Muscular_Dystrophy,_alpha-dystroglycan_related.0.01198HET Link to ClinVar
359547305641BenignCongenital_Muscular_Dystrophy,_alpha-dystroglycan_related0.994740.99641HOM Link to ClinVar
359556310607BenignCongenital_Muscular_Dystrophy,_alpha-dystroglycan_related.0.8121HET Link to ClinVar
359566302392BenignCongenital_Muscular_Dystrophy,_alpha-dystroglycan_related.0.82987HOM Link to ClinVar
359582310459BenignCongenital_Muscular_Dystrophy,_alpha-dystroglycan_related.0.79633HOM Link to ClinVar
257460252661Benign/Likely_benignnot_specified
Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related
.0.02336HET Link to ClinVar
682001662925Benignnot_provided..HOM Link to ClinVar
682000662835Benignnot_provided..HOM Link to ClinVar
681997662363Benignnot_provided..HOM Link to ClinVar
681995662840Benignnot_provided..HOM Link to ClinVar
683645662364Benignnot_provided..HOM Link to ClinVar
681994662850Benignnot_provided..HET Link to ClinVar
681979662379Benignnot_provided..HOM Link to ClinVar
403464390597Benignnot_specified..HOM Link to ClinVar
402927389811Benignnot_specified0.311740.32987HET Link to ClinVar
402925389817Benignnot_specified0.767920.77356HOM Link to ClinVar
178721174188Benign/Likely_benignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.091560.0613HET Link to ClinVar
9368299585Benignnot_specified
not_provided
..HET Link to ClinVar
9369399596BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.468310.54293HET Link to ClinVar
163097174192BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.990430.99062HOM Link to ClinVar
9368499587BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.434780.53035HET Link to ClinVar
178725174059Benign/Likely_benignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.352920.22045HET Link to ClinVar
163100174194BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.788670.76777HOM Link to ClinVar
163102174195BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.784680.75379HOM Link to ClinVar
9368799590BenignPrimary_ciliary_dyskinesia
not_specified
0.488950.5619HET Link to ClinVar
9368899591Benignnot_specified..HET Link to ClinVar
9369099593BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.395880.42332HET Link to ClinVar
9369299595Benign/Likely_benignPrimary_ciliary_dyskinesia
not_specified
0.213130.22684HET Link to ClinVar
163110174201BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
.0.75539HET Link to ClinVar
163112174202BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.640860.53954HET Link to ClinVar
163113174068BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.53410.3728HET Link to ClinVar
163121174075BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.570470.45947HET Link to ClinVar
163126174212BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
0.725540.63439HOM Link to ClinVar
178735174079BenignPrimary_ciliary_dyskinesia
not_specified
not_provided
.0.6224HOM Link to ClinVar
178739174216Benign/Likely_benignPrimary_ciliary_dyskinesia
not_specified
not_provided
.0.19349HOM Link to ClinVar
695364683887Likely_benignnot_provided..HET Link to ClinVar
359702310581Likely_benignPrimary_ciliary_dyskinesia.0.21546HOM Link to ClinVar
359713302509BenignHypomyelination_and_Congenital_Cataract..HET Link to ClinVar
359719305783BenignHypomyelination_and_Congenital_Cataract.0.22504HET Link to ClinVar
359721310823BenignHypomyelination_and_Congenital_Cataract.0.42752HET Link to ClinVar
359725302520BenignHypomyelination_and_Congenital_Cataract.0.42772HET Link to ClinVar
359730310601BenignHypomyelination_and_Congenital_Cataract.0.22065HET Link to ClinVar
359743305847BenignHypomyelination_and_Congenital_Cataract.0.22504HET Link to ClinVar
359745302533BenignHypomyelination_and_Congenital_Cataract.0.66713HOM Link to ClinVar
359749305881BenignHypomyelination_and_Congenital_Cataract.0.67213HOM Link to ClinVar
359758302539Uncertain_significanceHypomyelination_and_Congenital_Cataract..HET Link to ClinVar
359760302544BenignHypomyelination_and_Congenital_Cataract.0.65295HOM Link to ClinVar
359762310888BenignHypomyelination_and_Congenital_Cataract.0.20248HET Link to ClinVar
706630692215Benignnot_provided..HET Link to ClinVar
2172634578BenignHypomyelination_and_Congenital_Cataract
not_specified
not_provided
0.373820.3748HET Link to ClinVar
359798310950Benign/Likely_benignPERCHING_syndrome
Retinitis_Pigmentosa,_Dominant
0.353750.42033HET Link to ClinVar
802302790717BenignPERCHING_syndrome..HOM Link to ClinVar
359825305960Likely_benignNonsyndromic_Hearing_Loss,_Mixed.0.12001HET Link to ClinVar
4484054007Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Mixed
0.196120.20188HET Link to ClinVar
227286229594Likely_benignnot_specified0.00017.HET Link to ClinVar
4484454011Benignnot_specified
Nonsyndromic_Hearing_Loss,_Mixed
0.571160.73762HOM Link to ClinVar
359877310733Likely_benignThrombocytopenia.0.77816HET Link to ClinVar
359878306005Likely_benignThrombocytopenia.0.47304HET Link to ClinVar
359896310753Likely_benignThrombocytopenia.0.01577HET Link to ClinVar
359907310762Likely_benignThrombocytopenia.0.4391HET Link to ClinVar
359922306027Likely_benignThrombocytopenia.0.01577HET Link to ClinVar
359923306034Likely_benignThrombocytopenia..HET Link to ClinVar
359953302746Likely_benignAthabaskan_brainstem_dysgenesis
Bosley-Salih-Alorainy_syndrome
.0.03974HET Link to ClinVar
369585353814BenignMicrotia,_hearing_impairment,_and_cleft_palate0.7660.78075HOM Link to ClinVar
432169425750Conflicting_interpretations_of_pathogenicitynot_provided..HET Link to ClinVar
683987662895Benignnot_provided..HET Link to ClinVar
258532252786BenignPeripheral_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
.0.64936HET Link to ClinVar
258537252787Benignnot_specified0.551770.39916HET Link to ClinVar
681750662916Benignnot_provided..HET Link to ClinVar
683989662934Benignnot_provided..HET Link to ClinVar
681718662938Benignnot_provided..HET Link to ClinVar
258536252795BenignPeripheral_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
0.552540.40415HET Link to ClinVar
360021311094Uncertain_significancePeripheral_axonal_neuropathy
Charcot-Marie-Tooth_disease,_type_2
Distal_spinal_muscular_atrophy
..HET Link to ClinVar
226023227761drug_responseselective_beta-2-adrenoreceptor_agonists_response_-_Efficacy
salbutamol_response_-_Efficacy
.0.41534HET Link to ClinVar
440011433763Benignnot_specified0.680690.66693HOM Link to ClinVar
167609177381Benign/Likely_benignRetinitis_pigmentosa_9
not_specified
Retinitis_Pigmentosa,_Dominant
not_provided
0.207850.17552HET Link to ClinVar
360045311120BenignRetinitis_Pigmentosa,_Dominant0.993760.99661HOM Link to ClinVar
360051306176Likely_benignBardet-Biedl_syndrome.0.15795HET Link to ClinVar
360055306180Likely_benignBardet-Biedl_syndrome.0.04673HET Link to ClinVar
360059306185Likely_benignBardet-Biedl_syndrome.0.14876HET Link to ClinVar
263126252797Benignnot_specified0.188520.15755HET Link to ClinVar
802303790719BenignBardet-Biedl_syndrome_9..HOM Link to ClinVar
263117252807Benign/Likely_benignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided
0.204150.17133HET Link to ClinVar
360112302890BenignDiaphanospondylodysostosis.0.1893HET Link to ClinVar
360118306226BenignDiaphanospondylodysostosis.0.91014HOM Link to ClinVar
360138311236BenignDiaphanospondylodysostosis.0.26657HET Link to ClinVar
219217231risk_factorAsthma-related_traits,_susceptibility_to,_20.446550.46745HET Link to ClinVar
518385508825BenignAtrial_septal_defect_4
Cardiovascular_phenotype
0.676680.69389HET Link to ClinVar
260759252825Benignnot_specified0.888540.83686HOM Link to ClinVar
260762252827Benignnot_specified.0.74062HOM Link to ClinVar
164801174226Benignnot_specified0.738280.74341HOM Link to ClinVar
164804174093Benignnot_specified.0.55332HOM Link to ClinVar
260754252837Benignnot_specified0.528170.55332HOM Link to ClinVar
221007221701Benignnot_specified
not_provided
..HET Link to ClinVar
260756252839Benignnot_specified0.659570.61202HOM Link to ClinVar
559088549617Benignnot_provided.0.20527HET Link to ClinVar
559092549621Benignnot_provided0.359790.31609HET Link to ClinVar
559093549622Benignnot_provided.0.34225HET Link to ClinVar
559095549624Benignnot_provided..HOM Link to ClinVar
360161311248BenignPolydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
.0.3113HET Link to ClinVar
360162302940BenignPolydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
.0.26617HET Link to ClinVar
360209306272BenignPolydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
.0.45168HET Link to ClinVar
255433252855BenignPolydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
not_specified
not_provided
0.45580.42153HET Link to ClinVar
681351662963Benignnot_provided..HET Link to ClinVar
255420252868BenignPolydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
not_specified
0.973460.96346HOM Link to ClinVar
683174662928Benignnot_provided..HET Link to ClinVar
683173662965Benignnot_provided..HET Link to ClinVar
255446252880BenignPolydactyly
Pallister-Hall_syndrome
Greig_cephalopolysyndactyly_syndrome
not_specified
not_provided
0.563030.60363HET Link to ClinVar
683170662420Benignnot_provided..HOM Link to ClinVar
360286306342BenignMaturity_onset_diabetes_mellitus_in_young
Permanent_neonatal_diabetes_mellitus
Hyperinsulinism,_Dominant
Transient_Neonatal_Diabetes,_Recessive
.0.41114HET Link to ClinVar
129147134593BenignMaturity_onset_diabetes_mellitus_in_young
Permanent_neonatal_diabetes_mellitus
not_specified
Hyperinsulinism,_Dominant
Transient_Neonatal_Diabetes,_Recessive
0.368060.41314HET Link to ClinVar
673534662425Benignnot_provided..HET Link to ClinVar
676858662432Benignnot_provided..HET Link to ClinVar
683651662969Benignnot_provided..HOM Link to ClinVar
403258389750Benignnot_specified0.247750.2472HET Link to ClinVar
261965252887BenignCerebral_cavernous_malformations_2
not_specified
0.062870.03295HET Link to ClinVar
712069730500Likely_benignnot_provided..HET Link to ClinVar
691984679730associationLeukemia,_acute_lymphoblastic_2..HOM Link to ClinVar
694328682220associationLeukemia,_acute_lymphoblastic_2..HOM Link to ClinVar
360432311345BenignDeficiency_of_aromatic-L-amino-acid_decarboxylase
not_specified
0.20890.19828HET Link to ClinVar
360449303193Likely_benignLung_cancer.0.22644HET Link to ClinVar
360450311361Likely_benignLung_cancer.0.92971HOM Link to ClinVar
134021137760Benign/Likely_benignLung_cancer
not_specified
0.286960.29213HET Link to ClinVar
259677252901Benign/Likely_benignLung_cancer
not_specified
.0.39038HET Link to ClinVar
4527154438Benign/Likely_benignLung_cancer
not_specified
0.522780.43271HET Link to ClinVar
360476311489Likely_benignLung_cancer..HET Link to ClinVar
360482306517Likely_benignLung_cancer.0.1869HET Link to ClinVar
9258898496BenignMucopolysaccharidosis_type_VII
not_specified
not_provided
0.579630.58067HOM Link to ClinVar
528232522777Benignnot_provided.0.5599HOM Link to ClinVar
9258398491Benignnot_specified
not_provided
0.572210.5643HOM Link to ClinVar
9259198499Benignnot_specified
not_provided
..HOM Link to ClinVar
680525662958Benignnot_provided..HET Link to ClinVar
676097662962Benignnot_provided..HET Link to ClinVar
675236662438Benignnot_provided..HET Link to ClinVar
129370134816Benign/Likely_benignSeizures
Progressive_myoclonic_epilepsy
not_specified
not_provided
0.102280.07827HET Link to ClinVar
262690252906Benignnot_specified
not_provided
0.12880.1254HET Link to ClinVar
360600306626BenignProgressive_myoclonic_epilepsy.0.6238HET Link to ClinVar
360601303285BenignProgressive_myoclonic_epilepsy.0.6236HET Link to ClinVar
360619303299BenignProgressive_myoclonic_epilepsy.0.6234HET Link to ClinVar
360627311548Likely_benignProgressive_myoclonic_epilepsy.0.11282HET Link to ClinVar
2154434396BenignShwachman-Diamond_syndrome_1
not_specified
0.038260.01817HET Link to ClinVar
675424663006Benignnot_provided..HET Link to ClinVar
177898176596BenignSupravalvar_aortic_stenosis
Cutis_laxa,_autosomal_dominant
not_specified
0.071190.04014HET Link to ClinVar
683509662978Benignnot_provided..HET Link to ClinVar
683865663031Benignnot_provided..HET Link to ClinVar
360671306729BenignSupravalvar_aortic_stenosis
Cutis_laxa,_autosomal_dominant
.0.29014HET Link to ClinVar
138789142492BenignAntley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis
not_specified
0.909090.8119HOM Link to ClinVar
138790142493BenignAntley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis
not_specified
.0.83526HOM Link to ClinVar
256840252929Benign/Likely_benignAntley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis
not_specified
0.36390.28614HOM Link to ClinVar
360731303417Likely_benignAntley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis.0.26877HOM Link to ClinVar
667830655803Benignnot_provided..HOM Link to ClinVar
129565135011Benignnot_specified
not_provided
0.824810.78654HET Link to ClinVar
129564135010Benignnot_specified
not_provided
0.82440.78634HET Link to ClinVar
129557135003Benignnot_specified
not_provided
0.29420.32308HET Link to ClinVar
360740306836Likely_benignPlatelet_glycoprotein_IV_deficiency.0.63339HET Link to ClinVar
487077480401...0.34685HET Link to ClinVar
360748311770Likely_benignPlatelet_glycoprotein_IV_deficiency.0.39197HET Link to ClinVar
360754311791Likely_benignPlatelet_glycoprotein_IV_deficiency0.964940.91833HOM Link to ClinVar
4360752776Benign/Likely_benignDeafness,_autosomal_recessive_39
not_specified
Nonsyndromic_Hearing_Loss,_Mixed
.0.79832HOM Link to ClinVar
674767662981Benignnot_provided..HET Link to ClinVar
674594663052Benignnot_provided..HET Link to ClinVar
674593663057Benignnot_provided..HET Link to ClinVar
674592663065Benignnot_provided..HET Link to ClinVar
678451662984Benignnot_provided..HOM Link to ClinVar
416574396450Benignnot_specified
not_provided
..HET Link to ClinVar
668817663067Benignnot_provided..HET Link to ClinVar
516741501832Benignnot_specified..HET Link to ClinVar
683280663072Benignnot_provided..HET Link to ClinVar
683279662988Benignnot_provided..HOM Link to ClinVar
674634663083Benignnot_provided..HET Link to ClinVar
668894663009Benignnot_provided..HET Link to ClinVar
668892663013Benignnot_provided..HET Link to ClinVar
260254252945Benignnot_specified
not_provided
0.422340.33946HOM Link to ClinVar
260257252946Benignnot_specified0.606340.55511HOM Link to ClinVar
260255252948Benignnot_specified
not_provided
0.60780.55631HOM Link to ClinVar
194754191917Benignnot_specified0.61320.61202HET Link to ClinVar
256164252949Benignnot_specified.0.87999HOM Link to ClinVar
256161252952Benignnot_specified0.899010.8736HOM Link to ClinVar
256160252953BenignProgressive_familial_intrahepatic_cholestasis
Progressive_familial_intrahepatic_cholestasis_3
Cholestasis,_progressive_familial_intrahepatic_1
not_specified
0.105650.17033HET Link to ClinVar
198082195243BenignProgressive_familial_intrahepatic_cholestasis
Cholestasis,_progressive_familial_intrahepatic_1
not_specified
0.476480.34784HET Link to ClinVar
225939227763drug_responseMDR1_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
0.503440.60483HET Link to ClinVar
166622176988drug_responseInflammatory_bowel_disease_13
not_specified
ondansetron_response_-_Efficacy
simvastatin_response_-_Efficacy
not_provided
.0.61701HET Link to ClinVar
194187191350Benignnot_specified
not_provided
0.541910.58387HET Link to ClinVar
683171663016Benignnot_provided..HET Link to ClinVar
360809311831Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
.0.62859HET Link to ClinVar
672176662996Benignnot_provided..HET Link to ClinVar
682737663113Benignnot_provided..HET Link to ClinVar
671862663021Benignnot_provided..HET Link to ClinVar
671863662508Benignnot_provided..HET Link to ClinVar
136347140050Benign/Likely_benignLong_QT_syndrome
Colorectal_cancer
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.38290.3722HET Link to ClinVar
136349140052Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.892390.9359HOM Link to ClinVar
136350140053Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.383780.3738HET Link to ClinVar
671864663007Benignnot_provided..HET Link to ClinVar
682744662510Benignnot_provided..HET Link to ClinVar
671865662514Benignnot_provided..HET Link to ClinVar
671629663025Likely_benignnot_provided..HET Link to ClinVar
671866663027Benignnot_provided..HET Link to ClinVar
190508188441Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
not_specified
Cardiovascular_phenotype
not_provided
0.398920.42472HET Link to ClinVar
671867663018Benignnot_provided..HET Link to ClinVar
671868663024Benignnot_provided..HET Link to ClinVar
671869662517Benignnot_provided..HET Link to ClinVar
682746662525Benignnot_provided..HET Link to ClinVar
671870663128Benignnot_provided..HET Link to ClinVar
671871663033Benignnot_provided..HET Link to ClinVar
682749663037Benignnot_provided..HET Link to ClinVar
136331140034BenignLong_QT_syndrome_11
not_specified
0.399280.42851HET Link to ClinVar
682750663032Benignnot_provided..HET Link to ClinVar
677984662526Benignnot_provided..HET Link to ClinVar
671872663040Benignnot_provided..HET Link to ClinVar
136333140036Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.379460.35982HET Link to ClinVar
671873662537Benignnot_provided..HET Link to ClinVar
682752663131Benignnot_provided..HET Link to ClinVar
682753662538Benignnot_provided..HET Link to ClinVar
677811663134Benignnot_provided..HET Link to ClinVar
136335140038Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
not_provided
0.407650.36242HET Link to ClinVar
671874662548Benignnot_provided..HET Link to ClinVar
671885663055Benignnot_provided..HET Link to ClinVar
136340140043Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.359340.29593HET Link to ClinVar
136341140044Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.383170.3738HET Link to ClinVar
136342140045Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.99620.9988HOM Link to ClinVar
136343140046Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.358880.29573HET Link to ClinVar
669435663035Benignnot_provided..HET Link to ClinVar
136344140047Benign/Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Long_QT_syndrome_11
not_specified
Cardiovascular_phenotype
not_provided
0.384590.3774HET Link to ClinVar
671886662564Benignnot_provided..HET Link to ClinVar
677812663153Benignnot_provided..HET Link to ClinVar
671003663043Benignnot_provided..HET Link to ClinVar
671887663069Benignnot_provided..HET Link to ClinVar
671888663070Benignnot_provided..HET Link to ClinVar
671889663049Benignnot_provided..HET Link to ClinVar
682754663050Benignnot_provided..HET Link to ClinVar
677167655811Benignnot_provided..HET Link to ClinVar
360872303560BenignAngiokeratoma_corporis_diffusum_with_arteriovenous_fistulas
Cerebral_cavernous_malformation
..HET Link to ClinVar
360922303594Conflicting_interpretations_of_pathogenicityPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
..HOM Link to ClinVar
9310599012BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.921820.94988HOM Link to ClinVar
9311299019BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.879260.89397HOM Link to ClinVar
1763632675risk_factorBone_mineral_density_quantitative_trait_locus_150.380030.54353HET Link to ClinVar
683354663154Benignnot_provided..HOM Link to ClinVar
683355663053Benignnot_provided..HOM Link to ClinVar
254957252979BenignEhlers-Danlos_syndrome,_procollagen_proteinase_deficient
not_specified
Osteogenesis_Imperfecta,_Dominant
0.781550.82808HOM Link to ClinVar
254958252980BenignEhlers-Danlos_syndrome,_procollagen_proteinase_deficient
not_specified
Osteogenesis_Imperfecta,_Dominant
0.774220.82428HOM Link to ClinVar
674811663158Benignnot_provided..HOM Link to ClinVar
674812663163Benignnot_provided..HOM Link to ClinVar
254952252981BenignEhlers-Danlos_syndrome,_procollagen_proteinase_deficient
not_specified
Osteogenesis_Imperfecta,_Dominant
.0.32728HOM Link to ClinVar
254953252982BenignEhlers-Danlos_syndrome,_procollagen_proteinase_deficient
Ehlers-Danlos_syndrome,_classic_type
not_specified
Osteogenesis_Imperfecta,_Dominant
.0.82169HOM Link to ClinVar
683330663176Benignnot_provided..HOM Link to ClinVar
674831662589Benignnot_provided..HOM Link to ClinVar
674833663080Benignnot_provided..HOM Link to ClinVar
360976312030BenignEhlers-Danlos_syndrome,_procollagen_proteinase_deficient
Osteogenesis_Imperfecta,_Dominant
.0.22145HET Link to ClinVar
360983303655BenignEhlers-Danlos_syndrome,_procollagen_proteinase_deficient
Osteogenesis_Imperfecta,_Dominant
.0.78794HET Link to ClinVar
487363480429BenignMyoclonic_dystonia0.69540.76238HOM Link to ClinVar
1373528774association,_risk_factorEnzyme_activity_finding
Coronary_artery_disease,_susceptibility_to
Coronary_artery_spasm_2,_susceptibility_to
0.377050.54293HET Link to ClinVar
1373628775association,_risk_factorEnzyme_activity_finding
Coronary_artery_disease,_susceptibility_to
Microvascular_complications_of_diabetes_5
0.291270.18271HET Link to ClinVar
1373728776otherEnzyme_activity_finding.0.34904HET Link to ClinVar
402811389826Benignnot_specified0.199910.21186HET Link to ClinVar
402812389761Benignnot_specified0.489750.4365HOM Link to ClinVar
683863663105Benignnot_provided..HOM Link to ClinVar
260371252989BenignCitrin_deficiency
Citrullinemia_type_I
not_specified
0.617920.60982HOM Link to ClinVar
667997655822BenignAsparagine_synthetase_deficiency
not_provided
..HET Link to ClinVar
1691631955drug_responseCYP3A4_PROMOTER_POLYMORPHISM
Cyp3a4-v
tacrolimus_response_-_Dosage
.0.76917HOM Link to ClinVar
678005662419Benignnot_provided..HET Link to ClinVar
678154662448Benignnot_provided..HET Link to ClinVar
2136934221BenignHereditary_hemochromatosis
Hemochromatosis_type_3
not_specified
not_provided
0.247510.12999HET Link to ClinVar
1660231641risk_factorMicrovascular_complications_of_diabetes_2.0.67472HET Link to ClinVar
403615389693Benignnot_specified0.514570.23702HET Link to ClinVar
403616389793Benignnot_specified0.472430.44549HET Link to ClinVar
769334699700Benignnot_provided..HET Link to ClinVar
811000799458Benignnot_specified..HET Link to ClinVar
811646799459Benignnot_specified..HET Link to ClinVar
811643799464Benignnot_specified..HET Link to ClinVar
358316304468BenignPlasminogen_activator_inhibitor_type_1_deficiency.0.43091HET Link to ClinVar
358319309196BenignPlasminogen_activator_inhibitor_type_1_deficiency.0.43051HET Link to ClinVar
358325309203BenignPlasminogen_activator_inhibitor_type_1_deficiency..HOM Link to ClinVar
358338309223BenignPlasminogen_activator_inhibitor_type_1_deficiency.0.34165HET Link to ClinVar
4833957501Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.3150.44269HET Link to ClinVar
358369309106BenignLissencephaly,_Recessive.0.9984HOM Link to ClinVar
358373301324Likely_benignLissencephaly,_Recessive.0.02356HET Link to ClinVar
95209101109BenignLissencephaly_2
not_specified
Lissencephaly,_Recessive
0.138920.23163HET Link to ClinVar
669141662447Benignnot_provided..HET Link to ClinVar
668966662059Benignnot_provided..HET Link to ClinVar
669140662443Benignnot_provided..HET Link to ClinVar
670928662072Benignnot_provided..HET Link to ClinVar
669139662461Benignnot_provided..HET Link to ClinVar
95234101134BenignLissencephaly_2
not_specified
Lissencephaly,_Recessive
not_provided
0.986960.99561HOM Link to ClinVar
95231101131Benign/Likely_benignLissencephaly_2
not_specified
Lissencephaly,_Recessive
0.049810.07808HET Link to ClinVar
668965662462Benignnot_provided..HET Link to ClinVar
95230101130BenignLissencephaly_2
not_specified
Lissencephaly,_Recessive
not_provided
0.472190.64836HET Link to ClinVar
669137662451Benignnot_provided..HOM Link to ClinVar
669136662477Benignnot_provided..HET Link to ClinVar
684074662456Benignnot_provided..HET Link to ClinVar
684073662080Benignnot_provided..HOM Link to ClinVar
259612252553Benignnot_specified
not_provided
.0.71026HOM Link to ClinVar
669135662466Benignnot_provided..HOM Link to ClinVar
669134662464Benignnot_provided..HET Link to ClinVar
684071662468Benignnot_provided..HOM Link to ClinVar
669132662484Benignnot_provided..HET Link to ClinVar
259608252557Benignnot_specified0.41370.47364HET Link to ClinVar
669129662488Benignnot_provided..HET Link to ClinVar
669128662092Benignnot_provided..HET Link to ClinVar
669119662498Benignnot_provided..HET Link to ClinVar
684067662097Benignnot_provided..HET Link to ClinVar
684064662103Benignnot_provided..HET Link to ClinVar
668948662499Benignnot_provided..HET Link to ClinVar
670968662505Benignnot_provided..HET Link to ClinVar
669112662490Benignnot_provided..HET Link to ClinVar
670722662496Benignnot_provided..HET Link to ClinVar
95224101124BenignLissencephaly_2
not_specified
Lissencephaly,_Recessive
not_provided
0.496020.46546HET Link to ClinVar
668946662511Benignnot_provided..HET Link to ClinVar
416378395528Benignnot_specified0.027370.01118HET Link to ClinVar
358437309207Likely_benignCongenital_disorder_of_glycosylation..HET Link to ClinVar
358442309212Likely_benignCongenital_disorder_of_glycosylation.0.13019HET Link to ClinVar
358445301392Likely_benignCongenital_disorder_of_glycosylation..HET Link to ClinVar
358458304590Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.19830.12979HET Link to ClinVar
380060369409Benignnot_specified0.222860.13558HET Link to ClinVar
95374101273BenignCongenital_disorder_of_glycosylation
not_specified
0.550770.64836HOM Link to ClinVar
516397502153Benignnot_specified..HET Link to ClinVar
358473309240Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.265130.2488HET Link to ClinVar
379958369124Benignnot_specified0.423040.37999HOM Link to ClinVar
358515304660Likely_benignPendred_syndrome
Nonsyndromic_Hearing_Loss,_Recessive
.0.24141HET Link to ClinVar
358538309313BenignCongenital_secretory_diarrhea,_chloride_type0.993570.998HOM Link to ClinVar
358545309333BenignCongenital_secretory_diarrhea,_chloride_type0.158070.15096HET Link to ClinVar
683735662116Benignnot_provided..HET Link to ClinVar
137094140797Benign/Likely_benignMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
Maple_syrup_urine_disease,_type_3
not_specified
not_provided
0.618180.71605HET Link to ClinVar
137102140805BenignMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
Maple_syrup_urine_disease,_type_3
not_specified
not_provided
.0.27576HET Link to ClinVar
358575309370BenignMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
.0.71066HET Link to ClinVar
358579301488BenignMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
.0.71446HET Link to ClinVar
358583301489Likely_benignMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
.0.27236HET Link to ClinVar
358584304740BenignMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
.0.71466HET Link to ClinVar
358588301500BenignMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
.0.71526HET Link to ClinVar
358589301501Likely_benignMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
.0.27217HET Link to ClinVar
358592304744Uncertain_significanceMaple_syrup_urine_disease
Leigh_syndrome
Pyruvate_dehydrogenase_complex_deficiency
..HET Link to ClinVar
682993662521Benignnot_provided..HET Link to ClinVar
681226662524Benignnot_provided..HET Link to ClinVar
682982662528Benignnot_provided..HET Link to ClinVar
682981662118Benignnot_provided..HET Link to ClinVar
380841368852Benignnot_specified0.405560.43351HET Link to ClinVar
681244662529Benignnot_provided..HET Link to ClinVar
682979662540Benignnot_provided..HOM Link to ClinVar
682978662122Benignnot_provided..HOM Link to ClinVar
681225662497Benignnot_provided..HOM Link to ClinVar
682977662124Benignnot_provided..HOM Link to ClinVar
380837369153Benignnot_specified0.644690.69549HOM Link to ClinVar
681233662126Benignnot_provided..HET Link to ClinVar
681223662128Benignnot_provided..HET Link to ClinVar
682976662500Benignnot_provided..HOM Link to ClinVar
380838370717Benignnot_specified.0.28574HET Link to ClinVar
682972662546Benignnot_provided..HET Link to ClinVar
681222662531Benignnot_provided..HOM Link to ClinVar
682968662544Benignnot_provided..HET Link to ClinVar
682975662551Benignnot_provided..HET Link to ClinVar
380839369160Benignnot_specified0.101270.09724HET Link to ClinVar
682974662556Benignnot_provided..HET Link to ClinVar
682973662135Benignnot_provided..HET Link to ClinVar
682971662519Benignnot_provided..HET Link to ClinVar
682970662558Benignnot_provided..HET Link to ClinVar
682967662561Benignnot_provided..HET Link to ClinVar
681243662563Benignnot_provided..HOM Link to ClinVar
380836368881Benignnot_specified0.117850.09125HET Link to ClinVar
682962662520Benignnot_provided..HOM Link to ClinVar
682961662565Benignnot_provided..HOM Link to ClinVar
682960662569Benignnot_provided..HOM Link to ClinVar
870623745risk_factorInsulin_resistance,_susceptibility_to0.219060.30871HET Link to ClinVar
358653304847BenignSpeech-language_disorder_10.014220.00998HET Link to ClinVar
672478662532Benignnot_provided..HOM Link to ClinVar
673350662606Benignnot_provided..HOM Link to ClinVar
358681304869Uncertain_significanceRenal_cell_carcinoma,_papillary,_1..HET Link to ClinVar
802347790675BenignRenal_cell_carcinoma,_papillary,_1..HET Link to ClinVar
802351790679BenignRenal_cell_carcinoma,_papillary,_1..HET Link to ClinVar
194024191187Conflicting_interpretations_of_pathogenicityRenal_cell_carcinoma,_papillary,_1
not_specified
not_provided
..HET Link to ClinVar
677866662576Likely_benignnot_provided..HET Link to ClinVar
5102965697Likely_benignCystic_fibrosis
not_specified
.0.0012HET Link to ClinVar
358760304926BenignFamilial_exudative_vitreoretinopathy0.804830.84625HOM Link to ClinVar
260253252574BenignFamilial_exudative_vitreoretinopathy
not_specified
0.803220.85144HOM Link to ClinVar
677020662585Benignnot_provided..HET Link to ClinVar
677019662622Benignnot_provided..HET Link to ClinVar
677017662155Benignnot_provided..HET Link to ClinVar
677016662596Benignnot_provided..HET Link to ClinVar
677015662550Benignnot_provided..HET Link to ClinVar
516586501786Benignnot_specified0.411380.41893HET Link to ClinVar
677014662599Benignnot_provided..HET Link to ClinVar
677013662600Benignnot_provided..HET Link to ClinVar
516585501547Benignnot_specified0.695020.72185HET Link to ClinVar
677012662629Benignnot_provided..HET Link to ClinVar
475094457119Benignnot_provided..HET Link to ClinVar
677011662634Benignnot_provided..HET Link to ClinVar
678869662570Benignnot_provided..HET Link to ClinVar
678868662611Benignnot_provided..HET Link to ClinVar
358778304937BenignMaturity_onset_diabetes_mellitus_in_young.0.66913HOM Link to ClinVar
358791301741BenignMaturity_onset_diabetes_mellitus_in_young0.763230.66933HOM Link to ClinVar
129878135324BenignMaturity_onset_diabetes_mellitus_in_young
not_specified
0.757810.67053HOM Link to ClinVar
129876135322Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young
not_specified
0.045130.01777HET Link to ClinVar
369576353805BenignMaturity_onset_diabetes_mellitus_in_young.0.60244HOM Link to ClinVar
778362699807Benignnot_provided..HET Link to ClinVar
358839301816BenignLeptin_deficiency_or_dysfunction
Monogenic_Non-Syndromic_Obesity
.0.94768HET Link to ClinVar
358842304954Likely_benignLeptin_deficiency_or_dysfunction
Monogenic_Non-Syndromic_Obesity
.0.11861HET Link to ClinVar
358845309786Likely_benignLeptin_deficiency_or_dysfunction
Monogenic_Non-Syndromic_Obesity
.0.46006HET Link to ClinVar
772900699809Benignnot_provided..HET Link to ClinVar
358876309824Likely_benignLeber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
0.160940.13019HET Link to ClinVar
768200699817Benignnot_provided..HET Link to ClinVar
679871662641Benignnot_provided..HET Link to ClinVar
680197662171Benignnot_provided..HOM Link to ClinVar
680198662173Benignnot_provided..HOM Link to ClinVar
129081134527Benignnot_specified
not_provided
0.094460.11002HET Link to ClinVar
680200662181Benignnot_provided..HET Link to ClinVar
680201662620Benignnot_provided..HOM Link to ClinVar
226641229552Benignnot_specified0.997310.99062HOM Link to ClinVar
339618435Pathogenic,_risk_factorRheumatoid_arthritis
Systemic_lupus_erythematosus_10
.0.41354HET Link to ClinVar
768201699841Benignnot_provided..HET Link to ClinVar
339718436risk_factorSystemic_lupus_erythematosus_10.0.53594HET Link to ClinVar
670796662623Benignnot_provided..HET Link to ClinVar
260265252607Benignnot_specified0.47790.47684HET Link to ClinVar
670783662691Benignnot_provided..HET Link to ClinVar
670239662651Benignnot_provided..HOM Link to ClinVar
670777662655Benignnot_provided..HET Link to ClinVar
670782662203Benignnot_provided..HET Link to ClinVar
668976662650Benignnot_provided..HET Link to ClinVar
670775662653Benignnot_provided..HET Link to ClinVar
670773662206Benignnot_provided..HET Link to ClinVar
260268252612Benignnot_specified0.409720.34185HET Link to ClinVar
670772662657Benignnot_provided..HET Link to ClinVar
670778662208Benignnot_provided..HET Link to ClinVar
668974662692Benignnot_provided..HET Link to ClinVar
670776662654Benignnot_provided..HET Link to ClinVar
670770662662Benignnot_provided..HET Link to ClinVar
670768662694Benignnot_provided..HET Link to ClinVar
670753662661Benignnot_provided..HET Link to ClinVar
670752655780Benignnot_provided..HET Link to ClinVar
679866662664Benignnot_provided..HET Link to ClinVar
403462389787Benignnot_specified0.797490.75619HOM Link to ClinVar
258474252615Benignnot_specified.0.58227HOM Link to ClinVar
358883301846BenignJoubert_syndrome0.536830.55531HOM Link to ClinVar
358896309694BenignJoubert_syndrome0.339460.34944HOM Link to ClinVar
358899309860Likely_benignJoubert_syndrome0.206220.23403HOM Link to ClinVar
358905301897BenignJoubert_syndrome..HOM Link to ClinVar
261053252622BenignJoubert_syndrome
not_specified
0.449280.47863HET Link to ClinVar
703788692161Benignnot_provided..HET Link to ClinVar
259891252626Benignnot_specified
Congenital_Bile_Acid_Synthesis_Defect
..HOM Link to ClinVar
358956305060BenignCongenital_Bile_Acid_Synthesis_Defect0.778130.77796HOM Link to ClinVar
358962309898Likely_benignCongenital_Bile_Acid_Synthesis_Defect.0.18171HET Link to ClinVar
358965305064BenignCongenital_Bile_Acid_Synthesis_Defect.0.77895HOM Link to ClinVar
740628750441Benignnot_provided..HET Link to ClinVar
358999309792BenignDistal_Renal_Tubular_Acidosis,_Recessive.0.20707HOM Link to ClinVar
359000309812Likely_benignDistal_Renal_Tubular_Acidosis,_Recessive.0.05132HOM Link to ClinVar
261343252628Benignnot_specified
Distal_Renal_Tubular_Acidosis,_Recessive
0.719720.67752HET Link to ClinVar
261342252629Benignnot_specified
Distal_Renal_Tubular_Acidosis,_Recessive
0.726710.71665HET Link to ClinVar
261345252632Benignnot_specified
Distal_Renal_Tubular_Acidosis,_Recessive
0.703980.67951HET Link to ClinVar
359047302001Uncertain_significanceNoonan_syndrome
Noonan_syndrome_with_multiple_lentigines
Cardio-facio-cutaneous_syndrome
..HET Link to ClinVar
768208699893Benignnot_provided..HET Link to ClinVar
258803252642Benign/Likely_benignnot_specified0.504070.39377HET Link to ClinVar
768210699898Benignnot_provided..HOM Link to ClinVar
679149662683Benignnot_provided..HOM Link to ClinVar
359094302026BenignMyotonia_congenita
not_specified
.0.32288HET Link to ClinVar
802378790706BenignCongenital_myotonia,_autosomal_recessive_form..HOM Link to ClinVar
679150662687Benignnot_provided..HOM Link to ClinVar
679151662722Benignnot_provided..HET Link to ClinVar
679908662215Benignnot_provided..HET Link to ClinVar
679909662695Benignnot_provided..HOM Link to ClinVar
679910662702Benignnot_provided..HOM Link to ClinVar
289007273244Benignnot_specified0.146410.09245HET Link to ClinVar
679912662707Benignnot_provided..HET Link to ClinVar
359111305233BenignMyotonia_congenita
Congenital_myotonia,_autosomal_recessive_form
Congenital_myotonia,_autosomal_dominant_form
not_specified
0.41080.41434HET Link to ClinVar
680142662718Benignnot_provided..HET Link to ClinVar
668095662742Benignnot_provided..HET Link to ClinVar
680143662724Benignnot_provided..HET Link to ClinVar
359118310073BenignMyotonia_congenita0.539690.47824HET Link to ClinVar
359119302046BenignMyotonia_congenita
not_specified
0.397420.36941HET Link to ClinVar
718475730472Benignnot_provided..HET Link to ClinVar
359135302073Likely_benignPremature_ovarian_failure0.215410.10563HET Link to ClinVar
286525270762BenignPremature_ovarian_failure
not_specified
0.68070.69629HET Link to ClinVar
138535142238BenignPremature_ovarian_failure
not_specified
0.263610.16214HET Link to ClinVar
359144305256BenignPremature_ovarian_failure0.67570.70627HET Link to ClinVar
359152310019BenignPremature_ovarian_failure0.631180.70627HET Link to ClinVar
138536142239Benign/Likely_benignPremature_ovarian_failure
not_specified
0.228570.10503HET Link to ClinVar
673728662740Benignnot_provided..HET Link to ClinVar
359171305281BenignPitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
not_provided
.0.51198HOM Link to ClinVar
549220531risk_factorAutism_15.0.50539HOM Link to ClinVar
672545662227Likely_benignnot_provided..HET Link to ClinVar
668785662758Benignnot_provided..HET Link to ClinVar
679929662775Benignnot_provided..HOM Link to ClinVar
676748662778Benignnot_provided..HET Link to ClinVar
668787662803Benignnot_provided..HET Link to ClinVar
679930662730Benignnot_provided..HET Link to ClinVar
679932662780Benignnot_provided..HET Link to ClinVar
670632662804Benignnot_provided..HET Link to ClinVar
670633662784Benignnot_provided..HET Link to ClinVar
679927662735Benignnot_provided..HET Link to ClinVar
549120530risk_factorAutism_15.0.58866HOM Link to ClinVar
668101662761Benignnot_provided..HOM Link to ClinVar
95567101465Benignnot_specified0.375470.36022HOM Link to ClinVar
679936662808Benignnot_provided..HET Link to ClinVar
668102662269Benignnot_provided..HET Link to ClinVar
679931662809Benignnot_provided..HOM Link to ClinVar
679933662764Benignnot_provided..HOM Link to ClinVar
670650662814Benignnot_provided..HOM Link to ClinVar
95573101471BenignHistory_of_neurodevelopmental_disorder
Pitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
not_specified
0.540660.54912HOM Link to ClinVar
670918662765Benignnot_provided..HET Link to ClinVar
668103662770Benignnot_provided..HOM Link to ClinVar
670851662822Benignnot_provided..HET Link to ClinVar
359199305292BenignPitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
..HET Link to ClinVar
359202310071BenignPitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
.0.66074HET Link to ClinVar
359208310185BenignPitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
..HOM Link to ClinVar
359241305319BenignPitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
..HET Link to ClinVar
359261310143BenignPitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
..HET Link to ClinVar
359271302173BenignPitt-Hopkins-like_syndrome_1
Pitt-Hopkins-like_syndrome
.0.79353HET Link to ClinVar
259400252646BenignWeaver_syndrome
not_specified
..HOM Link to ClinVar
680130662829Benignnot_provided..HOM Link to ClinVar
680128662836Benignnot_provided..HOM Link to ClinVar
680126662843Benignnot_provided..HOM Link to ClinVar
670472662278Benignnot_provided..HOM Link to ClinVar
670931662779Benignnot_provided..HOM Link to ClinVar
210966207472BenignWeaver_syndrome
not_specified
..HOM Link to ClinVar
681701662853Benignnot_provided..HET Link to ClinVar
671950662287Benignnot_provided..HOM Link to ClinVar
200230197235Benign/Likely_benignArrhythmia
Long_QT_syndrome
not_specified
Cardiovascular_phenotype
not_provided
0.665840.77217HOM Link to ClinVar
200228197263Benign/Likely_benignArrhythmia
Long_QT_syndrome
not_specified
Cardiovascular_phenotype
not_provided
0.478590.60843HOM Link to ClinVar
3642845091Benign/Likely_benignArrhythmia
Long_QT_syndrome
Cardiac_arrhythmia
not_specified
Cardiovascular_phenotype
not_provided
0.293450.34165HOM Link to ClinVar
255614252648Benign/Likely_benignArrhythmia
Long_QT_syndrome
not_specified
Cardiovascular_phenotype
not_provided
.0.34265HOM Link to ClinVar
671949662883Benignnot_provided..HOM Link to ClinVar
678032662292Benignnot_provided..HOM Link to ClinVar
671895662298Benignnot_provided..HOM Link to ClinVar
517660508751protectiveMetabolic_syndrome,_susceptibility_to.0.76558HOM Link to ClinVar
403248389810Benignnot_specified0.770130.81769HET Link to ClinVar
1401529054BenignIschemic_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
0.753020.82368HOM Link to ClinVar
403250389797Benignnot_specified0.844080.88838HOM Link to ClinVar
403251389815Benignnot_specified0.37790.36182HET Link to ClinVar
667623655788Benignnot_provided..HET Link to ClinVar
402398390498Benignnot_specified..HET Link to ClinVar
359320302196Likely_benignWolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
.0.55391HET Link to ClinVar
359322302204Uncertain_significanceWolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
..HET Link to ClinVar
359335305426Likely_benignWolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
.0.54992HET Link to ClinVar
359342302216Likely_benignWolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
.0.55431HET Link to ClinVar
683629662787Benignnot_provided..HOM Link to ClinVar
260694252649Benignnot_specified0.143040.14417HET Link to ClinVar
674539662896Benignnot_provided..HET Link to ClinVar
260697252652Likely_benignnot_specified0.764670.80471HET Link to ClinVar
683712662322Benignnot_provided..HOM Link to ClinVar
260692252655Benign/Likely_benignWolff-Parkinson-White_syndrome
Glycogen_storage_disease_of_heart,_lethal_congenital
not_specified
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
not_provided
0.174310.1889HET Link to ClinVar
226011227765drug_responseantipsychotics_response_-_Toxicity/ADR.0.57728HOM Link to ClinVar
1663131670Uncertain_significanceAutism_10.0.75739HOM Link to ClinVar
1663231671Uncertain_significanceAutism_10.0.75899HOM Link to ClinVar
667597662812Benignnot_provided..HET Link to ClinVar
669661662863Benignnot_provided..HET Link to ClinVar
675003662864Benignnot_provided..HOM Link to ClinVar
255495252656Benignnot_specified0.582290.47504HET Link to ClinVar
359404310280BenignTriphalangeal_thumb_polysyndactyly_syndrome.0.19669HOM Link to ClinVar
359410310399BenignTriphalangeal_thumb_polysyndactyly_syndrome.0.19848HOM Link to ClinVar
359418310406BenignTriphalangeal_thumb_polysyndactyly_syndrome.0.09225HET Link to ClinVar
669009662907Benign/Likely_benignnot_provided..HET Link to ClinVar
768220699961Benignnot_provided..HET Link to ClinVar
679305662349Benignnot_provided..HET Link to ClinVar
668118662357Benignnot_provided..HET Link to ClinVar
679296662888Benignnot_provided..HET Link to ClinVar
359472302331BenignLimb-Girdle_Muscular_Dystrophy,_Dominant
Myofibrillar_Myopathy,_Dominant
.0.98163HOM Link to ClinVar
359474310367BenignLimb-Girdle_Muscular_Dystrophy,_Dominant
Myofibrillar_Myopathy,_Dominant
.0.36082HET Link to ClinVar
516235502043Benignnot_specified0.057950.06669HET Link to ClinVar
516204502324BenignShort-rib_thoracic_dysplasia_8_with_or_without_polydactyly
not_specified
0.991960.99581HOM Link to ClinVar
516219501998Benignnot_specified0.441040.57368HOM Link to ClinVar
516205501695Benignnot_specified0.841910.88618HET Link to ClinVar
516206502000Benignnot_specified0.793080.78055HET Link to ClinVar
516225502053Benignnot_specified.0.11282HET Link to ClinVar
679917662767Benignnot_provided..HET Link to ClinVar
518390508830BenignSlowed_nerve_conduction_velocity,_autosomal_dominant0.665780.74241HET Link to ClinVar
618536609686BenignCharcot-Marie-Tooth_disease
Slowed_nerve_conduction_velocity,_autosomal_dominant
0.159370.16833HET Link to ClinVar
518392508832BenignSlowed_nerve_conduction_velocity,_autosomal_dominant0.949060.94948HOM Link to ClinVar
363515314971BenignPrimary_Microcephaly,_Recessive.0.53874HOM Link to ClinVar
158854168641Likely_benignnot_specified0.255360.37201HOM Link to ClinVar
670445662866Benignnot_provided..HOM Link to ClinVar
670446663359Benignnot_provided..HOM Link to ClinVar
670447663364Benignnot_provided..HOM Link to ClinVar
683148662867Benignnot_provided..HOM Link to ClinVar
683150663368Benignnot_provided..HOM Link to ClinVar
158879168657Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_1
not_specified
Primary_Microcephaly,_Recessive
0.115330.07029HOM Link to ClinVar
96126102020BenignPrimary_autosomal_recessive_microcephaly_1
not_specified
Primary_Microcephaly,_Recessive
0.997980.99441HOM Link to ClinVar
683151663363Benignnot_provided..HOM Link to ClinVar
158834168676Benign/Likely_benignnot_specified
Primary_Microcephaly,_Recessive
.0.14637HOM Link to ClinVar
684323663369Benignnot_provided..HOM Link to ClinVar
158837168680Likely_benignnot_specified0.264810.14976HOM Link to ClinVar
158838168681Likely_benignnot_specified0.344910.3097HOM Link to ClinVar
158839168682Likely_benignnot_specified.0.28974HOM Link to ClinVar
361187312241BenignOccult_macular_dystrophy.0.5605HOM Link to ClinVar
361200312140BenignOccult_macular_dystrophy.0.46625HET Link to ClinVar
361207307279Likely_benignOccult_macular_dystrophy0.001470.0004HET Link to ClinVar
361209312150BenignOccult_macular_dystrophy0.470240.47205HET Link to ClinVar
361212312151BenignOccult_macular_dystrophy0.609410.65096HET Link to ClinVar
361222312285BenignOccult_macular_dystrophy0.378150.3121HET Link to ClinVar
361235312170BenignOccult_macular_dystrophy0.607070.64936HET Link to ClinVar
361236312296BenignOccult_macular_dystrophy0.949410.91973HOM Link to ClinVar
361242307332BenignOccult_macular_dystrophy0.250070.23742HET Link to ClinVar
361259312214BenignOccult_macular_dystrophy0.382570.3107HET Link to ClinVar
361276312243BenignOccult_macular_dystrophy0.294470.28175HET Link to ClinVar
361282303830BenignOccult_macular_dystrophy0.981960.9409HOM Link to ClinVar
361309312322BenignOccult_macular_dystrophy0.730870.70807HOM Link to ClinVar
361349312440BenignOccult_macular_dystrophy0.423520.3149HET Link to ClinVar
361367307405BenignOccult_macular_dystrophy0.844650.79732HOM Link to ClinVar
361372303896BenignOccult_macular_dystrophy0.391230.29473HET Link to ClinVar
361437307484BenignOccult_macular_dystrophy.0.48982HET Link to ClinVar
361468312558BenignMaturity_onset_diabetes_mellitus_in_young.0.42572HET Link to ClinVar
361471307514BenignMaturity_onset_diabetes_mellitus_in_young.0.82368HOM Link to ClinVar
1231927358Conflicting_interpretations_of_pathogenicityMaturity_onset_diabetes_mellitus_in_young
Maturity-onset_diabetes_of_the_young,_type_11
Monogenic_diabetes
not_specified
0.011710.01238HET Link to ClinVar
128527133976BenignMaturity_onset_diabetes_mellitus_in_young
not_specified
0.4830.41693HET Link to ClinVar
128529133978BenignMaturity_onset_diabetes_mellitus_in_young
not_specified
0.831670.82768HOM Link to ClinVar
361498304030Likely_benignMaturity_onset_diabetes_mellitus_in_young.0.05012HET Link to ClinVar
361500304039BenignMaturity_onset_diabetes_mellitus_in_young0.493230.55711HOM Link to ClinVar
1232027359Likely_benignMaturity_onset_diabetes_mellitus_in_young
Maturity-onset_diabetes_of_the_young,_type_11
0.011470.00399HET Link to ClinVar
1232127360Conflicting_interpretations_of_pathogenicityMaturity-onset_diabetes_of_the_young,_type_11.0.0645HET Link to ClinVar
433016426523Conflicting_interpretations_of_pathogenicityCongenital_heart_disease.0.87161HOM Link to ClinVar
139596143221Conflicting_interpretations_of_pathogenicityCongenital_heart_disease
not_provided
.0.73443HET Link to ClinVar
433015426531Conflicting_interpretations_of_pathogenicityCongenital_heart_disease.0.27017HET Link to ClinVar
139593143218Uncertain_significancenot_provided.0.36142HET Link to ClinVar
139594143219Uncertain_significancenot_provided.0.22724HET Link to ClinVar
433026426534Conflicting_interpretations_of_pathogenicityCongenital_heart_disease.0.39996HET Link to ClinVar
95430101329Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.337980.29313HOM Link to ClinVar
362319313481BenignCongenital_disorder_of_glycosylation.0.74421HOM Link to ClinVar
362320313572BenignCongenital_disorder_of_glycosylation.0.75459HOM Link to ClinVar
362328304690Likely_benignCongenital_disorder_of_glycosylation.0.21326HOM Link to ClinVar
1435729396Conflicting_interpretations_of_pathogenicityMalignant_tumor_of_prostate
Hereditary_cancer-predisposing_syndrome
not_provided
.0.00539HET Link to ClinVar
670833662763Benignnot_provided..HOM Link to ClinVar
362350313506BenignFarber_disease.0.71725HET Link to ClinVar
362355313616BenignFarber_disease.0.27556HET Link to ClinVar
362356313621BenignFarber_disease.0.27995HET Link to ClinVar
362357313622BenignFarber_disease..HET Link to ClinVar
362358304724Likely_benignFarber_disease.0.07967HET Link to ClinVar
362359304726BenignFarber_disease.0.27496HET Link to ClinVar
362364308429Likely_benignFarber_disease.0.02835HET Link to ClinVar
362365304732Likely_benignFarber_disease.0.10623HET Link to ClinVar
362367304736Likely_benignFarber_disease.0.10603HET Link to ClinVar
362372304751BenignFarber_disease.0.36422HET Link to ClinVar
678049663331Benignnot_provided..HET Link to ClinVar
678048663292Benignnot_provided..HOM Link to ClinVar
259283253089BenignFarber_disease
not_specified
not_provided
0.943090.85024HOM Link to ClinVar
362381304754Benign/Likely_benignFarber_disease
not_specified
not_provided
0.04220.02276HET Link to ClinVar
259280253092Benignnot_specified0.421550.39297HOM Link to ClinVar
678046663336Benignnot_provided..HOM Link to ClinVar
678045662774Benignnot_provided..HOM Link to ClinVar
678030663339Benignnot_provided..HET Link to ClinVar
678029663306Benignnot_provided..HOM Link to ClinVar
558958549640Benignnot_provided0.413080.33906HET Link to ClinVar
197388194549BenignFarber_disease
not_specified
not_provided
0.477810.41993HOM Link to ClinVar
197389194550BenignFarber_disease
not_specified
not_provided
0.479650.42053HOM Link to ClinVar
678028663312Benignnot_provided..HOM Link to ClinVar
678027663341Benignnot_provided..HOM Link to ClinVar
678026662793Benignnot_provided..HOM Link to ClinVar
259279253093Likely_benignnot_specified..HOM Link to ClinVar
259278253094BenignFarber_disease
not_specified
not_provided
0.538550.42053HOM Link to ClinVar
259277253095Benignnot_specified
not_provided
0.524370.42033HOM Link to ClinVar
678025663351Benignnot_provided..HOM Link to ClinVar
678024663366Benignnot_provided..HOM Link to ClinVar
678023663319Benignnot_provided..HOM Link to ClinVar
678022662813Benignnot_provided..HOM Link to ClinVar
402397389782Benignnot_specified
not_provided
0.465070.41354HOM Link to ClinVar
678021662821Benignnot_provided..HOM Link to ClinVar
672022663322Benignnot_provided..HOM Link to ClinVar
259275253096Benign/Likely_benignFarber_disease
not_specified
not_provided
0.106380.11002HOM Link to ClinVar
259276253097Benignnot_specified.0.10623HOM Link to ClinVar
362390308432Uncertain_significanceFarber_disease.0.00699HET Link to ClinVar
558961549643Benignnot_provided0.042150.02476HET Link to ClinVar
1780832847BenignNAT1*17_ALLELE
not_specified
0.02090.01697HET Link to ClinVar
375653362499drug_responseethambutol,_isoniazid,_pyrazinamide,_and_rifampin_response_-_Toxicity/ADR0.344890.39736HET Link to ClinVar
72215761drug_responseSlow_acetylator_due_to_N-acetyltransferase_enzyme_variant
ethambutol,_isoniazid,_pyrazinamide,_and_rifampin_response_-_Toxicity/ADR,_Metabolism/PK
0.277270.26498HET Link to ClinVar
155016589Conflicting_interpretations_of_pathogenicityHyperlipidemia,_familial_combined,_susceptibility_to
Hyperapobetalipoproteinemia
Hyperlipoproteinemia,_type_I
0.013360.00519HET Link to ClinVar
155916598associationHigh_density_lipoprotein_cholesterol_level_quantitative_trait_locus_11.0.34944HET Link to ClinVar
153416573Likely_benignLIPOPROTEIN_LIPASE_POLYMORPHISM
Hyperlipoproteinemia,_type_I
0.09350.09245HET Link to ClinVar
362430308459BenignHyperlipoproteinemia,_type_I.0.33746HET Link to ClinVar
362432313618Likely_benignHyperlipoproteinemia,_type_I.0.09125HET Link to ClinVar
362440308491Likely_benignHyperlipoproteinemia,_type_I.0.09026HET Link to ClinVar
4013148634BenignHyperlipoproteinemia,_type_I
High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_11
.0.33486HET Link to ClinVar
362448308525Likely_benignHyperlipoproteinemia,_type_I.0.1276HET Link to ClinVar
362450313721Likely_benignHyperlipoproteinemia,_type_I..HET Link to ClinVar
362452313723BenignHyperlipoproteinemia,_type_I.0.33307HET Link to ClinVar
362455313665BenignAlopecia_universalis
Atrichia_with_papular_lesions
..HET Link to ClinVar
362466304810BenignAlopecia_universalis
Atrichia_with_papular_lesions
.0.35663HET Link to ClinVar
362521304851BenignAlopecia_universalis
Atrichia_with_papular_lesions
0.612310.57927HET Link to ClinVar
362525313732BenignAlopecia_universalis
Atrichia_with_papular_lesions
0.320490.29633HET Link to ClinVar
362542308587BenignAlopecia_universalis
Atrichia_with_papular_lesions
.0.60823HET Link to ClinVar
362569313869Benign/Likely_benignIdiopathic_fibrosing_alveolitis,_chronic_form
Pulmonary_Surfactant_Metabolism_Dysfunction,_Dominant
Osteogenesis_Imperfecta,_Recessive
0.205980.10443HET Link to ClinVar
362572313871Uncertain_significanceOsteogenesis_Imperfecta,_Recessive..HET Link to ClinVar
362573313878BenignIdiopathic_fibrosing_alveolitis,_chronic_form
Pulmonary_Surfactant_Metabolism_Dysfunction,_Dominant
Osteogenesis_Imperfecta,_Recessive
not_provided
.0.74141HET Link to ClinVar
680492663373Benignnot_provided..HET Link to ClinVar
674968663375Benignnot_provided..HET Link to ClinVar
362592313894Benign/Likely_benignnot_specified
Osteogenesis_Imperfecta,_Recessive
0.050250.05032HET Link to ClinVar
675091663378Benignnot_provided..HET Link to ClinVar
680516663327Benignnot_provided..HET Link to ClinVar
680493663330Benignnot_provided..HET Link to ClinVar
674720663340Benignnot_provided..HOM Link to ClinVar
675150663381Benignnot_provided..HET Link to ClinVar
362607308665Likely_benignOsteogenesis_Imperfecta,_Recessive.0.13399HET Link to ClinVar
768230700522Benignnot_provided..HET Link to ClinVar
720868723003Benignnot_provided..HET Link to ClinVar
162169171882not_providednot_provided.0.40076HET Link to ClinVar
362624304973BenignCharcot-Marie-Tooth_disease,_type_I.0.71965HET Link to ClinVar
362632304991BenignCharcot-Marie-Tooth_disease,_type_I.0.54273HET Link to ClinVar
362641305005BenignCharcot-Marie-Tooth_disease,_type_I.0.72085HET Link to ClinVar
694999683010Uncertain_significanceCharcot-Marie-Tooth_disease..HOM Link to ClinVar
670555662832Benignnot_provided..HET Link to ClinVar
667514663383Benignnot_provided..HET Link to ClinVar
362657308710Uncertain_significanceIsolated_GnRH_Deficiency.0.01997HET Link to ClinVar
362664308736BenignNocturnal_frontal_lobe_epilepsy.0.80571HOM Link to ClinVar
362665308738BenignNocturnal_frontal_lobe_epilepsy.0.40515HET Link to ClinVar
362673313911BenignNocturnal_frontal_lobe_epilepsy.0.36542HET Link to ClinVar
362682313924BenignNocturnal_frontal_lobe_epilepsy.0.36142HET Link to ClinVar
362683313926BenignNocturnal_frontal_lobe_epilepsy.0.35903HET Link to ClinVar
362685313972BenignNocturnal_frontal_lobe_epilepsy.0.78674HOM Link to ClinVar
362686313930BenignNocturnal_frontal_lobe_epilepsy.0.78195HOM Link to ClinVar
670757662838Benignnot_provided..HOM Link to ClinVar
668090663394Benignnot_provided..HET Link to ClinVar
679135663396Benignnot_provided..HET Link to ClinVar
362716314020BenignNocturnal_frontal_lobe_epilepsy.0.10663HET Link to ClinVar
1660331642risk_factorFamilial_hypercholesterolemia_10.115320.12959HET Link to ClinVar
516218502718Benignnot_specified.0.46665HET Link to ClinVar
257053253100Benignnot_specified0.993320.97784HOM Link to ClinVar
439766433599Benignnot_specified0.449410.42392HET Link to ClinVar
130763136209BenignWerner_syndrome
not_specified
not_provided
0.703180.6873HET Link to ClinVar
130757136203Benign/Likely_benignWerner_syndrome
not_specified
not_provided
0.075230.04692HET Link to ClinVar
256707253104Benign/Likely_benignWerner_syndrome
not_specified
not_provided
..HOM Link to ClinVar
130754136200BenignWerner_syndrome
not_specified
not_provided
0.470430.375HOM Link to ClinVar
130761136207Benign/Likely_benignWerner_syndrome
not_specified
not_provided
0.298910.27356HET Link to ClinVar
130762136208Benign/Likely_benignWerner_syndrome
not_specified
not_provided
0.241640.19269HET Link to ClinVar
732415736637Benignnot_provided..HET Link to ClinVar
679568663338Likely_benignnot_provided..HET Link to ClinVar
362826314123BenignCongenital_adrenal_hyperplasia.0.55052HET Link to ClinVar
448532441233Benignnot_specified0.979580.96566HOM Link to ClinVar
362920314238BenignCraniosynostosis
Hypogonadism_with_anosmia
Pfeiffer_syndrome
Osteoglophonic_dysplasia
Nonsyndromic_Trigonocephaly
.0.95687HOM Link to ClinVar
259175253109Benignnot_specified
Cone-Rod_Dystrophy,_Recessive
..HOM Link to ClinVar
362954309065Likely_benignSpherocytosis,_Dominant.0.98602HOM Link to ClinVar
261317253111Benign/Likely_benignSpherocytosis_type_1
not_specified
Spherocytosis,_Dominant
0.780470.78634HET Link to ClinVar
261316253112Benign/Likely_benignSpherocytosis_type_1
not_specified
Spherocytosis,_Dominant
0.213390.19469HET Link to ClinVar
261315253113BenignSpherocytosis_type_1
not_specified
.0.97764HOM Link to ClinVar
261301253125Benign/Likely_benignSpherocytosis_type_1
not_specified
Spherocytosis,_Dominant
.0.40715HET Link to ClinVar
261319253139Benign/Likely_benignnot_specified
Spherocytosis,_Dominant
0.13820.10503HET Link to ClinVar
587815579425BenignHistory_of_neurodevelopmental_disorder0.205210.20947HET Link to ClinVar
402969389785Benignnot_specified0.853210.69529HOM Link to ClinVar
363099305384BenignIdiopathic_basal_ganglia_calcification_1.0.69369HET Link to ClinVar
363113309195Likely_benignDystonia.0.01857HET Link to ClinVar
684160663400Benignnot_provided..HOM Link to ClinVar
684171663401Benignnot_provided..HOM Link to ClinVar
684173663358Benignnot_provided..HOM Link to ClinVar
96501102395BenignMucopolysaccharidosis,_MPS-III-C
not_specified
not_provided
0.30720.22524HET Link to ClinVar
96503102397BenignSanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-C
not_specified
not_provided
0.99740.99161HOM Link to ClinVar
363174305420BenignSanfilippo_syndrome.0.82189HOM Link to ClinVar
379395371924Benignnot_specified0.959850.98363HOM Link to ClinVar
363238314652BenignNatural_killer_cell_and_glucocorticoid_deficiency_with_DNA_repair_defect
not_specified
0.866860.91414HET Link to ClinVar
403354390587Benignnot_specified... Link to ClinVar
403355389834Benignnot_specified0.011280.00579HET Link to ClinVar
403356389843Benignnot_specified.0.83187HOM Link to ClinVar
403357389863Benignnot_specified0.874480.74601HOM Link to ClinVar
596921008Benign/Likely_benignHypertriglyceridemia,_susceptibility_to
not_specified
Retinitis_Pigmentosa,_Dominant
0.347510.25HOM Link to ClinVar
95357101256Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Dominant
.0.21566HOM Link to ClinVar
363327309408BenignChondrodysplasia.0.88239HOM Link to ClinVar
363378309475Uncertain_significanceChondrodysplasia.0.00379HET Link to ClinVar
128540133989BenignHistory_of_neurodevelopmental_disorder
not_specified
0.427930.501HET Link to ClinVar
158324168596Benignnot_specified0.811910.82708HOM Link to ClinVar
203017069Uncertain_significanceScoliosis,_idiopathic_3.0.86062HOM Link to ClinVar
676809663362Benignnot_provided..HOM Link to ClinVar
158325168598Benignnot_specified0.831590.89697HOM Link to ClinVar
260894253153Likely_benignnot_specified0.795360.82867HOM Link to ClinVar
676842663354Benignnot_provided..HOM Link to ClinVar
673326662852Benignnot_provided..HOM Link to ClinVar
158326168600Benignnot_specified0.825880.85284HOM Link to ClinVar
676810662859Benignnot_provided..HOM Link to ClinVar
673327662860Benignnot_provided..HOM Link to ClinVar
158327168612Benignnot_specified0.813720.83906HOM Link to ClinVar
667608663355Benignnot_provided..HOM Link to ClinVar
676811662865Benignnot_provided..HOM Link to ClinVar
676812663411Benignnot_provided..HOM Link to ClinVar
667609663419Benignnot_provided..HOM Link to ClinVar
676813663422Benignnot_provided..HOM Link to ClinVar
363501305684BenignHypogonadism_with_anosmia
CHARGE_association
.0.5004HOM Link to ClinVar
363502315016BenignHypogonadism_with_anosmia
CHARGE_association
.0.49581HOM Link to ClinVar
363511305698BenignHypogonadism_with_anosmia
CHARGE_association
.0.73762HOM Link to ClinVar
363513309718BenignHypogonadism_with_anosmia
CHARGE_association
.0.49621HOM Link to ClinVar
9287298779BenignAtaxia_with_vitamin_E_deficiency
not_specified
not_provided
..HOM Link to ClinVar
379640371950Benignnot_specified0.029290.01418HET Link to ClinVar
363596309773Likely_benignFamilial_temporal_lobe_epilepsy_2.0.01338HET Link to ClinVar
128847134295Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2
not_specified
not_provided
0.112350.07907HET Link to ClinVar
128846134294Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2
not_specified
0.094390.08906HET Link to ClinVar
128845134293Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2
not_specified
not_provided
0.235960.23223HET Link to ClinVar
369613353842Likely_benignFamilial_temporal_lobe_epilepsy_2.0.60463HET Link to ClinVar
225954227767drug_responseirinotecan_response_-_Toxicity/ADR.0.68351HET Link to ClinVar
363624315067BenignOtofaciocervical_syndrome_1
Branchiootorenal_Spectrum_Disorders
.0.98782HOM Link to ClinVar
363687315216BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type0.354520.21665HET Link to ClinVar
675845662875Benignnot_provided..HET Link to ClinVar
203986200170Conflicting_interpretations_of_pathogenicityMitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type
not_provided
0.00011.HET Link to ClinVar
363693315225BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type0.494570.47504HET Link to ClinVar
363712315245BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type.0.21625HET Link to ClinVar
681267663492Benignnot_provided..HOM Link to ClinVar
695131684027Benignnot_provided..HOM Link to ClinVar
670530663407Benignnot_provided..HOM Link to ClinVar
681269662880Benignnot_provided..HET Link to ClinVar
681275662881Benignnot_provided..HOM Link to ClinVar
681276663412Benignnot_provided..HET Link to ClinVar
261065253176BenignCharcot-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
0.27740.21925HET Link to ClinVar
681294663509Benignnot_provided..HET Link to ClinVar
670531662885Benignnot_provided..HOM Link to ClinVar
363721315149BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate
0.233420.23343HET Link to ClinVar
363727315268BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate
0.987570.98982HOM Link to ClinVar
363728315275BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate
0.233370.23343HET Link to ClinVar
363752315173BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate
0.241260.26677HET Link to ClinVar
363753305869BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate
0.227550.23363HET Link to ClinVar
363758315188BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis
Charcot-Marie-Tooth,_Intermediate
0.232930.22943HET Link to ClinVar
363772305894BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.51797HOM Link to ClinVar
363777305899BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.95427HOM Link to ClinVar
363798315255BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.98582HOM Link to ClinVar
363804305926BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.95427HOM Link to ClinVar
167455177936BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
0.987780.99621HOM Link to ClinVar
369615353844BenignOsteopetrosis_with_renal_tubular_acidosis.0.9988HOM Link to ClinVar
254787253178BenignOsteopetrosis_with_renal_tubular_acidosis
not_specified
0.58930.57768HET Link to ClinVar
369616353845BenignAchromatopsia
Stargardt_Disease,_Recessive
.0.85623HOM Link to ClinVar
363844305952BenignAchromatopsia
Stargardt_Disease,_Recessive
.0.53674HOM Link to ClinVar
291003275240Conflicting_interpretations_of_pathogenicitynot_provided0.00051.HET Link to ClinVar
95929101825BenignAchromatopsia
Achromatopsia_3
not_specified
Stargardt_Disease,_Recessive
.0.67971HET Link to ClinVar
261090253186BenignAchromatopsia
Achromatopsia_3
not_specified
Stargardt_Disease,_Recessive
0.894610.95747HOM Link to ClinVar
363882305979Benign/Likely_benignAchromatopsia
Stargardt_Disease,_Recessive
not_provided
..HET Link to ClinVar
363896310029BenignMicrocephaly,_normal_intelligence_and_immunodeficiency.0.33546HOM Link to ClinVar
363898310032BenignMicrocephaly,_normal_intelligence_and_immunodeficiency.0.33526HOM Link to ClinVar
363905315495BenignMicrocephaly,_normal_intelligence_and_immunodeficiency.0.33027HOM Link to ClinVar
363909315368BenignMicrocephaly,_normal_intelligence_and_immunodeficiency.0.32188HOM Link to ClinVar
258769253191Benignnot_specified0.353460.37919HET Link to ClinVar
183696182835BenignHereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided
0.345050.35284HET Link to ClinVar
258768253192BenignHereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided
0.352940.37899HET Link to ClinVar
183701182857BenignHereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided
0.467590.60863HET Link to ClinVar
199080196239BenignHereditary_cancer-predisposing_syndrome
not_specified
0.344590.35304HET Link to ClinVar
134876138615BenignHereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided
0.345270.35703HET Link to ClinVar
183697182905BenignHereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_specified
not_provided
0.352720.37919HET Link to ClinVar
126307131839Benignnot_specified
not_provided
0.014510.01038HET Link to ClinVar
96528102422BenignNephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided
0.634050.71506HET Link to ClinVar
126301131833BenignNephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided
0.636940.69289HET Link to ClinVar
369617353846BenignPyruvate_dehydrogenase_phosphatase_deficiency.0.49661HET Link to ClinVar
363945315572BenignPyruvate_dehydrogenase_phosphatase_deficiency0.467570.49521HET Link to ClinVar
363952306040BenignPyruvate_dehydrogenase_phosphatase_deficiency.0.59385HET Link to ClinVar
681229662926Benignnot_provided..HET Link to ClinVar
676241663529Benignnot_provided..HET Link to ClinVar
681230663455Benignnot_provided..HET Link to ClinVar
671643663427Benignnot_provided..HET Link to ClinVar
559318549952Benignnot_provided... Link to ClinVar
681196662929Benignnot_provided..HET Link to ClinVar
256850253216Benignnot_specified.0.03774HET Link to ClinVar
681299663547Benignnot_provided..HET Link to ClinVar
684319663434Benignnot_provided..HET Link to ClinVar
262657253219BenignCohen_syndrome
not_specified
0.750350.70507HOM Link to ClinVar
262652253228BenignCohen_syndrome
not_specified
0.177660.22364HET Link to ClinVar
95821101718Benign/Likely_benignCohen_syndrome
History_of_neurodevelopmental_disorder
not_specified
.0.11102HET Link to ClinVar
361101315548Likely_benignCohen_syndrome..HET Link to ClinVar
361106315735BenignCohen_syndrome..HET Link to ClinVar
361107310296Likely_benignCohen_syndrome..HET Link to ClinVar
361108310304BenignCohen_syndrome..HET Link to ClinVar
361123306190BenignCohen_syndrome.0.20567HET Link to ClinVar
262804252991Benignnot_specified0.197920.15056HET Link to ClinVar
262805252992Benignnot_specified0.198580.15056HET Link to ClinVar
221008221749BenignCiliary_dyskinesia,_primary,_28
not_specified
0.199070.15036HET Link to ClinVar
410995396533Likely_benignnot_provided0.00105.HET Link to ClinVar
262802252995Benignnot_specified0.617910.6274HET Link to ClinVar
508097501889BenignCORNEAL_DYSTROPHY,_POSTERIOR_POLYMORPHOUS,_4
not_specified
0.974260.96126HOM Link to ClinVar
768252700327Benignnot_provided..HET Link to ClinVar
100143106020not_providednot_provided.0.59784HOM Link to ClinVar
100144106021not_providednot_provided.0.3764HOM Link to ClinVar
260177252998Benignnot_specified.0.72025HET Link to ClinVar
361519312576BenignTrichorhinophalangeal_Syndrome.1HOM Link to ClinVar
361537307528BenignTrichorhinophalangeal_Syndrome.0.61302HET Link to ClinVar
361560312625BenignTrichorhinophalangeal_Syndrome.1HOM Link to ClinVar
361561312569BenignTrichorhinophalangeal_Syndrome.1HOM Link to ClinVar
361582307545BenignTrichorhinophalangeal_Syndrome..HET Link to ClinVar
361601312701BenignTrichorhinophalangeal_Syndrome.0.54553HET Link to ClinVar
260331253013Benignnot_specified.0.77137HET Link to ClinVar
260329253016BenignTrichorhinophalangeal_Syndrome
Trichorhinophalangeal_dysplasia_type_I
not_specified
0.37519.HET Link to ClinVar
361634304025BenignTrichorhinophalangeal_Syndrome.0.6867HET Link to ClinVar
361641312678Uncertain_significanceTrichorhinophalangeal_Syndrome..HOM Link to ClinVar
669108663116Benignnot_provided..HET Link to ClinVar
669106663124Benignnot_provided..HET Link to ClinVar
159805168582BenignHistory_of_neurodevelopmental_disorder
not_specified
0.172770.13319HET Link to ClinVar
159809168583Benign/Likely_benignnot_specified0.003930.0004HET Link to ClinVar
668613663141Benignnot_provided..HET Link to ClinVar
100016039risk_factorDIABETES_MELLITUS,_TYPE_2,_SUSCEPTIBILITY_TO0.284890.25519HET Link to ClinVar
255175253019Benignnot_specified
Hereditary_Multiple_Osteochondromatosis
0.397360.33846HOM Link to ClinVar
255172253022Benignnot_specified
Hereditary_Multiple_Osteochondromatosis
0.17460.12021HET Link to ClinVar
196215193376BenignMultiple_congenital_exostosis
not_specified
Hereditary_Multiple_Osteochondromatosis
0.259580.17392HET Link to ClinVar
196349193510BenignHyperphosphatasemia_with_bone_disease
not_specified
0.933930.92372HOM Link to ClinVar
258775253030BenignHyperphosphatasemia_with_bone_disease
not_specified
0.602410.66673HOM Link to ClinVar
361702307683BenignHyperphosphatasemia_with_bone_disease.0.6216HOM Link to ClinVar
802438790778BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_24..HET Link to ClinVar
802439790779BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_24..HET Link to ClinVar
683815663207Benignnot_provided..HET Link to ClinVar
683812663162Benignnot_provided..HET Link to ClinVar
682822663167Benignnot_provided..HET Link to ClinVar
671065663125Benignnot_provided..HET Link to ClinVar
516650502579Benignnot_specified0.999971HOM Link to ClinVar
669898663170Benignnot_provided..HET Link to ClinVar
670723663216Benignnot_provided..HET Link to ClinVar
682819663133Benignnot_provided..HET Link to ClinVar
380826370065Benignnot_specified0.233010.22544HET Link to ClinVar
669859663135Benignnot_provided..HET Link to ClinVar
361745312763BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13518HET Link to ClinVar
361757312809BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13518HET Link to ClinVar
361759307788BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13518HET Link to ClinVar
361761312820BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13518HET Link to ClinVar
361763304178BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13478HET Link to ClinVar
361764312821BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13478HET Link to ClinVar
361766304180BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13598HET Link to ClinVar
361767307793BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13478HET Link to ClinVar
361776312838BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13918HET Link to ClinVar
361784307838BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.13518HET Link to ClinVar
361799312891BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.72284HET Link to ClinVar
361802304197BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
..HET Link to ClinVar
361809307864BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.28634HET Link to ClinVar
361814312923BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.3109HET Link to ClinVar
361823312925BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.72085HET Link to ClinVar
361833304229BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.14317HET Link to ClinVar
361834312958BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.29313HET Link to ClinVar
361846312980BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
.0.26857HET Link to ClinVar
670591663175Benignnot_provided..HET Link to ClinVar
674991663144Benignnot_provided..HET Link to ClinVar
670883663183Benignnot_provided..HET Link to ClinVar
683736663160Benignnot_provided..HOM Link to ClinVar
674897663187Benignnot_provided..HET Link to ClinVar
361897313040BenignBenign_Neonatal_Epilepsy
Benign_familial_neonatal_seizures
not_provided
.0.22744HOM Link to ClinVar
683733663202Benignnot_provided..HOM Link to ClinVar
683731663208Benignnot_provided..HOM Link to ClinVar
260278253039BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_19
not_specified
0.419050.48622HET Link to ClinVar
2990638861risk_factorAutoimmune_thyroid_disease_3.0.59245HET Link to ClinVar
1269727736Benign/Likely_benignThyroid_dyshormonogenesis
Autoimmune_thyroid_disease_3
not_specified
.0.67632HET Link to ClinVar
258989253046Benign/Likely_benignThyroid_dyshormonogenesis
not_specified
0.582940.67272HET Link to ClinVar
1269827737Benign/Likely_benignThyroid_dyshormonogenesis
Autoimmune_thyroid_disease_3
not_specified
0.584170.67492HET Link to ClinVar
258992253049Benignnot_specified0.570610.39776HET Link to ClinVar
258993253050Benign/Likely_benignThyroid_dyshormonogenesis
not_specified
0.569720.39876HET Link to ClinVar
258994253051Benign/Likely_benignThyroid_dyshormonogenesis
not_specified
0.591470.47384HET Link to ClinVar
258996253052Benign/Likely_benignThyroid_dyshormonogenesis
not_specified
0.48460.34685HET Link to ClinVar
1269627735Benign/Likely_benignThyroid_dyshormonogenesis
Autoimmune_thyroid_disease_3
not_specified
0.322620.33247HET Link to ClinVar
259000253056Benign/Likely_benignThyroid_dyshormonogenesis
not_specified
0.434710.34465HET Link to ClinVar
259001253057BenignThyroid_dyshormonogenesis
not_specified
0.502370.52236HET Link to ClinVar
259002253058BenignThyroid_dyshormonogenesis
not_specified
0.497590.53734HET Link to ClinVar
362015313152BenignCharcot-Marie-Tooth_disease_type_4.0.83027HET Link to ClinVar
667647662665Benignnot_provided..HET Link to ClinVar
673430663201Likely_benignnot_provided..HET Link to ClinVar
667649663210Benignnot_provided..HET Link to ClinVar
138433142136BenignCharcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.090430.09265HET Link to ClinVar
667644663213Benignnot_provided..HET Link to ClinVar
667641663290Benignnot_provided..HOM Link to ClinVar
667640662705Benignnot_provided..HOM Link to ClinVar
259916253060BenignCharcot-Marie-Tooth_disease,_type_4D
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.563490.61342HOM Link to ClinVar
369595353824BenignBirk-Barel_Intellectual_Disability_Dysmorphism_Syndrome.1HOM Link to ClinVar
362074308163BenignIntellectual_Disability,_Recessive0.630850.53834HOM Link to ClinVar
130626136072Benignnot_specified
Intellectual_Disability,_Recessive
0.123240.07169HET Link to ClinVar
130625136071BenignHistory_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive
0.123680.07129HET Link to ClinVar
768267777712Benignnot_provided..HET Link to ClinVar
691405679171Uncertain_significanceHirschsprung_disease..HET Link to ClinVar
691482679172Uncertain_significanceHirschsprung_disease..HOM Link to ClinVar
362189304553BenignHyperaldosteronism,_familial,_type_I
Corticosterone_methyloxidase_type_2_deficiency
Corticosterone_methyloxidase_type_1_deficiency
.0.999HOM Link to ClinVar
362191304554BenignHyperaldosteronism,_familial,_type_I
Corticosterone_methyloxidase_type_2_deficiency
Corticosterone_methyloxidase_type_1_deficiency
.0.13219HOM Link to ClinVar
362207308315BenignHyperaldosteronism,_familial,_type_I
Corticosterone_methyloxidase_type_2_deficiency
Corticosterone_methyloxidase_type_1_deficiency
not_specified
0.909390.82348HOM Link to ClinVar
263135253062BenignAmelogenesis_imperfecta,_hypocalcification_type
not_specified
0.681530.52915HOM Link to ClinVar
263133253064BenignAmelogenesis_imperfecta,_hypocalcification_type
not_specified
0.949920.82328HOM Link to ClinVar
263132253065Benignnot_specified0.276690.16594HET Link to ClinVar
9301298919Benignnot_specified0.430740.23822HET Link to ClinVar
9303398940Benignnot_specified0.419130.47704HET Link to ClinVar
9303098937Benignnot_specified0.418990.47844HET Link to ClinVar
9302598932Benignnot_specified
not_provided
0.434320.49042HET Link to ClinVar
9302398930Benignnot_specified0.427490.47824HET Link to ClinVar
9302298929Benignnot_specified.0.44609HET Link to ClinVar
9302098927Benignnot_specified0.34510.23403HET Link to ClinVar
9301898925Benignnot_specified
not_provided
.0.47185HET Link to ClinVar
9308998996Benign/Likely_benignnot_specified0.056850.02756HET Link to ClinVar
9308798994Benignnot_specified0.344370.23063HET Link to ClinVar
9308498991Benignnot_specified0.344630.23023HET Link to ClinVar
9308398990Benignnot_specified0.408510.46665HET Link to ClinVar
9307898985Benignnot_specified0.42970.23103HET Link to ClinVar
256178253068Benignnot_specified
not_provided
0.344780.23063HET Link to ClinVar
256177253069Benignnot_specified
not_provided
0.343210.23063HET Link to ClinVar
9307398980Benignnot_specified0.353550.23023HET Link to ClinVar
9307198978Benignnot_specified
not_provided
0.465150.23063HET Link to ClinVar
9306898975Benignnot_specified0.363150.23083HET Link to ClinVar
9306798974Benignnot_specified0.361580.23083HET Link to ClinVar
9305698963Benignnot_specified0.375860.23083HET Link to ClinVar
9305298959Benignnot_specified
not_provided
0.32950.22484HET Link to ClinVar
9305198958Benignnot_specified.0.23263HET Link to ClinVar
9305098957Benignnot_specified0.335650.23263HET Link to ClinVar
9304998956Benignnot_specified0.391230.23103HET Link to ClinVar
667911663307Benignnot_provided..HET Link to ClinVar
683693663236Benignnot_provided..HET Link to ClinVar
667909663240Benignnot_provided..HET Link to ClinVar
667891663226Benignnot_provided..HET Link to ClinVar
667889663314Benignnot_provided..HET Link to ClinVar
129947135393Benignnot_specified0.412770.46665HET Link to ClinVar
667887663229Benignnot_provided..HET Link to ClinVar
667885663235Benignnot_provided..HET Link to ClinVar
256175253071Benignnot_specified
not_provided
0.34380.23103HET Link to ClinVar
9304798954Benignnot_specified0.343720.23083HET Link to ClinVar
9304698953Benignnot_specified0.348950.23083HET Link to ClinVar
9304498951Benignnot_specified0.368710.23083HET Link to ClinVar
667881662711Benignnot_provided..HET Link to ClinVar
683692663245Benignnot_provided..HET Link to ClinVar
256173253073Benignnot_specified
not_provided
0.335430.22524HET Link to ClinVar
195654192815Conflicting_interpretations_of_pathogenicitynot_specified
not_provided
0.001510.0006HET Link to ClinVar
129938135384Benignnot_specified0.741060.57189HET Link to ClinVar
667921662716Benignnot_provided..HET Link to ClinVar
683690663257Benignnot_provided..HET Link to ClinVar
9303898945Benignnot_specified
not_provided
..HET Link to ClinVar
9303598942Benignnot_specified0.359850.32748HET Link to ClinVar
129934135380Benignnot_specified0.366870.23143HET Link to ClinVar
227018231312Benignnot_specified0.380440.39836HET Link to ClinVar
667918662720Benignnot_provided..HET Link to ClinVar
667917663316Benignnot_provided..HET Link to ClinVar
667915663248Benignnot_provided..HET Link to ClinVar
256170253075Benignnot_specified
not_provided
0.33010.23203HET Link to ClinVar
129928135374Benignnot_specified0.330220.23143HET Link to ClinVar
667912662733Benignnot_provided..HET Link to ClinVar
256168253076Benignnot_specified
not_provided
.0.39337HET Link to ClinVar
667892663266Benignnot_provided..HET Link to ClinVar
667890663250Benignnot_provided..HET Link to ClinVar
667888663258Benignnot_provided..HET Link to ClinVar
129949135395Benignnot_specified
not_provided
.0.23243HET Link to ClinVar
667886663269Benignnot_provided..HET Link to ClinVar
667884662737Benignnot_provided..HET Link to ClinVar
256171253077Benignnot_specified
not_provided
.0.23043HET Link to ClinVar
667880663274Benignnot_provided..HET Link to ClinVar
667877663318Benignnot_provided..HET Link to ClinVar
667860663283Benignnot_provided..HET Link to ClinVar
683688663268Benignnot_provided..HET Link to ClinVar
683686663323Benignnot_provided..HET Link to ClinVar
379959370173Benignnot_specified
not_provided
0.879310.88958HOM Link to ClinVar
403433389762Benignnot_specified0.946260.88459HOM Link to ClinVar
403434389779Benignnot_specified0.947160.88478HOM Link to ClinVar
403435389855Benignnot_specified0.984870.95328HOM Link to ClinVar
402587390517Benignnot_specified0.068130.03594HET Link to ClinVar
402588390518Benignnot_specified0.049580.02336HET Link to ClinVar
380872371714Benignnot_specified.0.45727HET Link to ClinVar
403459390475Benignnot_specified0.967820.98463HOM Link to ClinVar
259199253080BenignHoloprosencephaly_sequence
not_specified
0.970850.94569HOM Link to ClinVar
94894100794Benignnot_specified0.466960.40056HOM Link to ClinVar
94893100793Benignnot_specified0.506340.43331HOM Link to ClinVar
167573178005Benignnot_specified0.972830.94609HOM Link to ClinVar
94891100791Benignnot_specified
not_provided
0.46120.38439HOM Link to ClinVar
94890100790BenignBaller-Gerold_syndrome
not_specified
0.011140.00539HET Link to ClinVar
94886100786Benignnot_specified0.480160.39457HOM Link to ClinVar
94884100784Benignnot_specified0.471560.40096HOM Link to ClinVar
94898100798Benignnot_specified
not_provided
0.437710.44768HOM Link to ClinVar
94897100797Benignnot_specified
not_provided
0.439430.37001HET Link to ClinVar
135161138900Benignnot_specified0.973320.94329HOM Link to ClinVar
94885100785Benignnot_specified
not_provided
0.555220.57508HOM Link to ClinVar
403369389833Benignnot_specified0.973980.94768HOM Link to ClinVar
673270664229Benignnot_provided..HOM Link to ClinVar
676901663725Benignnot_provided..HOM Link to ClinVar
673882663757Benignnot_provided..HOM Link to ClinVar
137155140858BenignHyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_specified
Hyper-IgE_syndrome
0.324490.30771HOM Link to ClinVar
178766175103BenignHyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_specified
Hyper-IgE_syndrome
0.520630.52975HET Link to ClinVar
673271663777Benignnot_provided..HOM Link to ClinVar
676843664271Benignnot_provided..HOM Link to ClinVar
667665664316Benignnot_provided..HET Link to ClinVar
263271253508Benignnot_specified.0.69589HET Link to ClinVar
163174174691Benignnot_specified
Hyper-IgE_syndrome
0.248790.19968HET Link to ClinVar
669669664571Benignnot_provided..HET Link to ClinVar
676844664347Benignnot_provided..HET Link to ClinVar
137137140840Benignnot_specified
Hyper-IgE_syndrome
0.222560.21586HET Link to ClinVar
673273663824Benignnot_provided..HET Link to ClinVar
676820663828Benignnot_provided..HET Link to ClinVar
676845664353Benignnot_provided..HET Link to ClinVar
674865664386Benignnot_provided..HET Link to ClinVar
673274664377Benignnot_provided..HET Link to ClinVar
676821664379Benignnot_provided..HET Link to ClinVar
137139140842Benignnot_specified
Hyper-IgE_syndrome
0.233160.22863HET Link to ClinVar
675026664646Benignnot_provided..HET Link to ClinVar
676846664652Benignnot_provided..HET Link to ClinVar
676836664400Benignnot_provided..HET Link to ClinVar
676851663847Benignnot_provided..HET Link to ClinVar
673290664407Benignnot_provided..HET Link to ClinVar
137141140844Benignnot_specified
Hyper-IgE_syndrome
0.234440.25499HET Link to ClinVar
673291663849Benignnot_provided..HET Link to ClinVar
673883664665Benignnot_provided..HET Link to ClinVar
673884663861Benignnot_provided..HET Link to ClinVar
667666664410Benignnot_provided..HOM Link to ClinVar
366969319385Conflicting_interpretations_of_pathogenicityHyper-IgE_syndrome
not_provided
0.000720.0004HET Link to ClinVar
178769175111BenignHyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_specified
Hyper-IgE_syndrome
.0.39177HOM Link to ClinVar
178770174698Benignnot_specified0.997830.9994HOM Link to ClinVar
667667664678Benignnot_provided..HOM Link to ClinVar
667680663875Benignnot_provided..HOM Link to ClinVar
667681663876Benignnot_provided..HOM Link to ClinVar
163176174825Benignnot_specified
Hyper-IgE_syndrome
0.757710.71426HOM Link to ClinVar
667682664429Benignnot_provided..HOM Link to ClinVar
667683664421Benignnot_provided..HOM Link to ClinVar
163177174549Benignnot_specified
Hyper-IgE_syndrome
0.758780.72105HOM Link to ClinVar
178771174550BenignHyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_specified
Hyper-IgE_syndrome
0.820060.80391HOM Link to ClinVar
667684663878Benignnot_provided..HOM Link to ClinVar
263270253561Benignnot_specified.0.63299HOM Link to ClinVar
367102308579BenignHyper-IgE_syndrome.0.85603HOM Link to ClinVar
717026723621Benignnot_provided..HET Link to ClinVar
802456790886BenignNicolaides-Baraitser_syndrome..HET Link to ClinVar
366341318557Likely_benignNicolaides-Baraitser_syndrome.0.01877HET Link to ClinVar
366342317990Likely_benignNicolaides-Baraitser_syndrome.0.01098HET Link to ClinVar
667580664235Benignnot_provided..HET Link to ClinVar
366352318001BenignCongenital_cerebellar_hypoplasia
not_provided
.0.8123HOM Link to ClinVar
366354318566BenignCongenital_cerebellar_hypoplasia.0.3099HOM Link to ClinVar
290493274730Conflicting_interpretations_of_pathogenicityCongenital_cerebellar_hypoplasia
not_specified
..HOM Link to ClinVar
130713136159BenignCongenital_cerebellar_hypoplasia
not_specified
0.321380.29493HET Link to ClinVar
667581664287Benignnot_provided..HET Link to ClinVar
667582664526Benignnot_provided..HET Link to ClinVar
667583664531Benignnot_provided..HOM Link to ClinVar
130701136147Likely_benignCongenital_cerebellar_hypoplasia
not_specified
.0.08167HET Link to ClinVar
674397664300Benignnot_provided..HET Link to ClinVar
674398664545Benignnot_provided..HET Link to ClinVar
670831664240Benignnot_provided..HET Link to ClinVar
130707136153Likely_benignCongenital_cerebellar_hypoplasia
not_specified
0.1450.07388HET Link to ClinVar
670832663741Benignnot_provided..HET Link to ClinVar
672298663743Benignnot_provided..HET Link to ClinVar
130709136155BenignCongenital_cerebellar_hypoplasia
not_specified
0.188010.17173HET Link to ClinVar
672299664248Benignnot_provided..HET Link to ClinVar
366383307997Likely_benignCongenital_cerebellar_hypoplasia.0.09585HET Link to ClinVar
366402318131BenignCone_dystrophy_3.0.19728HET Link to ClinVar
366403312358BenignCone_dystrophy_30.612650.67193HOM Link to ClinVar
96357102251BenignCone_dystrophy_3
not_specified
0.611590.66034HOM Link to ClinVar
96362102256BenignCone_dystrophy_3
not_specified
0.489580.48003HOM Link to ClinVar
366482318746Likely_benignCone_dystrophy_3.0.05771HET Link to ClinVar
366891319285BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism... Link to ClinVar
366897308373Uncertain_significanceDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism.0.00639HET Link to ClinVar
366912318680BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism.0.79313HOM Link to ClinVar
366916308391BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism.0.95308HOM Link to ClinVar
366929318714BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism.0.96765HOM Link to ClinVar
366935318738BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism.0.34365HET Link to ClinVar
366938318750BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism.0.38658HET Link to ClinVar
366946319366BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism..HOM Link to ClinVar
129160134606BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism
not_specified
0.672990.67612HOM Link to ClinVar
129159134605BenignDiabetes_mellitus,_neonatal,_with_congenital_hypothyroidism
not_specified
0.999730.999HOM Link to ClinVar
367039308515Conflicting_interpretations_of_pathogenicityDicarboxylic_aminoaciduria
not_provided
0.006670.00339HET Link to ClinVar
367042319503BenignDicarboxylic_aminoaciduria0.397070.32828HET Link to ClinVar
367084308540BenignDicarboxylic_aminoaciduria.0.22804HET Link to ClinVar
367114318934BenignBudd-Chiari_syndrome.0.29074HET Link to ClinVar
367122318940BenignBudd-Chiari_syndrome
not_specified
0.325690.35823HET Link to ClinVar
367129319566BenignBudd-Chiari_syndrome
not_specified
0.532750.61681HET Link to ClinVar
367149308609Likely_benignBudd-Chiari_syndrome..HET Link to ClinVar
773508777823Likely_benignnot_provided..HET Link to ClinVar
255454253564Benign/Likely_benignNon-ketotic_hyperglycinemia
not_specified
..HET Link to ClinVar
255459253566BenignNon-ketotic_hyperglycinemia
not_specified
not_provided
0.242410.19209HOM Link to ClinVar
783027712042Benignnot_provided..HET Link to ClinVar
256642253304Benignnot_specified.0.22085HET Link to ClinVar
256643253305Benignnot_specified.0.25978HET Link to ClinVar
364861316831BenignOculocutaneous_albinism.0.252HET Link to ClinVar
364863310952BenignOculocutaneous_albinism..HOM Link to ClinVar
364865310966BenignOculocutaneous_albinism.0.24101HET Link to ClinVar
364867316559BenignOculocutaneous_albinism..HET Link to ClinVar
364872316849BenignOculocutaneous_albinism.0.26158HOM Link to ClinVar
364873316569BenignOculocutaneous_albinism.0.27256HOM Link to ClinVar
211516207631Benignnot_specified0.664710.55691HOM Link to ClinVar
366056312029BenignMarles_Greenberg_Persaud_syndrome.0.4357HET Link to ClinVar
366057312034BenignMarles_Greenberg_Persaud_syndrome.0.55631HET Link to ClinVar
366059318188BenignMarles_Greenberg_Persaud_syndrome.0.57828HET Link to ClinVar
366061312051BenignMarles_Greenberg_Persaud_syndrome.0.13059HET Link to ClinVar
366063318193Likely_benignMarles_Greenberg_Persaud_syndrome.0.08866HET Link to ClinVar
366066312062BenignMarles_Greenberg_Persaud_syndrome.0.72344HOM Link to ClinVar
366071318200BenignMarles_Greenberg_Persaud_syndrome.0.72304HOM Link to ClinVar
366075317706Likely_benignMarles_Greenberg_Persaud_syndrome..HET Link to ClinVar
366079307789Likely_benignMarles_Greenberg_Persaud_syndrome.0.0627HET Link to ClinVar
366085317732Likely_benignMarles_Greenberg_Persaud_syndrome.0.05571HET Link to ClinVar
262545253486BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.738550.73502HOM Link to ClinVar
262543253488BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.326810.25419HOM Link to ClinVar
262542253489BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.867850.84724HOM Link to ClinVar
262541253490BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.510060.41673HOM Link to ClinVar
262539253492Benign/Likely_benignMarles_Greenberg_Persaud_syndrome
not_specified
0.134060.10643HOM Link to ClinVar
262538253493BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.21760.17692HET Link to ClinVar
262537253494BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.324310.25998HET Link to ClinVar
262536253495BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.280860.15176HOM Link to ClinVar
366142312147Likely_benignMarles_Greenberg_Persaud_syndrome0.03030.01957HET Link to ClinVar
262535253496BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.230260.16414HOM Link to ClinVar
262534253497BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.600870.5008HET Link to ClinVar
262546253498BenignMarles_Greenberg_Persaud_syndrome
not_specified
0.80540.76957HOM Link to ClinVar
366172318323BenignMarles_Greenberg_Persaud_syndrome0.210010.2484HET Link to ClinVar
366182318337BenignMarles_Greenberg_Persaud_syndrome.0.22844HET Link to ClinVar
120236125830not_providedHypotension.0.07887HET Link to ClinVar
402871389806Benignnot_specified0.324270.28095HET Link to ClinVar
402872389891Benignnot_specified.0.60383HOM Link to ClinVar
402873389813Benignnot_specified0.742390.76857HET Link to ClinVar
366256317926BenignDiaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma.0.46985HET Link to ClinVar
366317307951Likely_benignDiaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma.0.01098HET Link to ClinVar
366434318153BenignMultiple_Cutaneous_and_Mucosal_Venous_Malformations0.464880.41434HET Link to ClinVar
518397508837BenignMultiple_Cutaneous_and_Mucosal_Venous_Malformations.0.41494HET Link to ClinVar
366439318674BenignMultiple_Cutaneous_and_Mucosal_Venous_Malformations0.211370.15096HET Link to ClinVar
366450312397BenignMultiple_Cutaneous_and_Mucosal_Venous_Malformations
not_specified
.0.22424HET Link to ClinVar
366455318689BenignMultiple_Cutaneous_and_Mucosal_Venous_Malformations0.172370.22304HET Link to ClinVar
366478318732BenignMultiple_Cutaneous_and_Mucosal_Venous_Malformations.0.20168HET Link to ClinVar
95315101214Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Dominant
0.185190.11422HET Link to ClinVar
95313101212Benign/Likely_benignnot_specified
Retinitis_Pigmentosa,_Dominant
0.207510.17911HET Link to ClinVar
214123211373Benignnot_specified
Ataxia_with_Oculomotor_Apraxia
Coenzyme_Q10_deficiency,_Oculomotor_Apraxia_Type
..HOM Link to ClinVar
366647318951BenignCongenital_disorder_of_glycosylation.0.94848HOM Link to ClinVar
208122204389Uncertain_significanceAmyotrophic_lateral_sclerosis_16,_juvenile.0.98742HOM Link to ClinVar
402843389913Benignnot_specified0.269090.40096HET Link to ClinVar
260123253528Benignnot_specified0.746080.70188HET Link to ClinVar
260128253532Benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Inclusion_Body_Myopathy,_Dominant
not_provided
0.744180.70108HET Link to ClinVar
259478253537Benignnot_specified0.745890.70148HET Link to ClinVar
366742319080BenignFanconi_anemia.0.1258HET Link to ClinVar
366744312648BenignFanconi_anemia.0.20647HET Link to ClinVar
366746308268BenignFanconi_anemia.0.1258HET Link to ClinVar
366751312668BenignHyperphosphatasia-intellectual_disability_syndrome0.994960.98403HOM Link to ClinVar
670827664322Benignnot_provided..HET Link to ClinVar
262093253543BenignHyperphosphatasia-intellectual_disability_syndrome
not_specified
not_provided
0.544030.47404HET Link to ClinVar
670826664331Benignnot_provided..HET Link to ClinVar
262100253544Benignnot_specified.0.1262HET Link to ClinVar
780046711959Benignnot_provided..HET Link to ClinVar
138922142625Benignnot_specified0.475920.48682HET Link to ClinVar
138920142623Benignnot_provided.0.30451HET Link to ClinVar
94123100023Benignnot_specified..HET Link to ClinVar
140484150162Benignnot_provided.0.48003HOM Link to ClinVar
679869664346Benignnot_provided..HET Link to ClinVar
516643502951Benignnot_specified0.687470.71046HET Link to ClinVar
366776312693BenignAcromesomelic_Dysplasia0.238540.3135HET Link to ClinVar
366787312716BenignAcromesomelic_Dysplasia0.231460.3125HET Link to ClinVar
366804312726BenignSialuria
GNE_myopathy
Inclusion_Body_Myopathy,_Recessive
.0.56929HET Link to ClinVar
366811319172BenignSialuria
GNE_myopathy
Inclusion_Body_Myopathy,_Recessive
.0.13359HET Link to ClinVar
366825312748BenignSialuria
GNE_myopathy
Inclusion_Body_Myopathy,_Recessive
.0.30032HET Link to ClinVar
681355663808Benignnot_provided..HET Link to ClinVar
681354664336Benignnot_provided..HOM Link to ClinVar
681770664337Benignnot_provided..HET Link to ClinVar
681839663809Benignnot_provided..HET Link to ClinVar
681838664354Benignnot_provided..HET Link to ClinVar
671400663814Benignnot_provided..HET Link to ClinVar
681753664345Benignnot_provided..HET Link to ClinVar
257526253556Benignnot_specified
not_provided
0.727530.65176HOM Link to ClinVar
672297664629Benignnot_provided..HET Link to ClinVar
134998138737not_providednot_specified0.868670.74201HOM Link to ClinVar
204220200625BenignPrimary_hyperoxaluria
Primary_hyperoxaluria,_type_II
not_specified
0.976420.91953HOM Link to ClinVar
204222200633Uncertain_significancePrimary_hyperoxaluria,_type_II0.893440.85204HOM Link to ClinVar
2149034342BenignPrimary_hyperoxaluria
Primary_hyperoxaluria,_type_II
not_specified
0.892460.84924HOM Link to ClinVar
136360140063Benignnot_specified0.954160.9367HOM Link to ClinVar
136362140065Benignnot_specified.0.39497HET Link to ClinVar
136365140068Benignnot_specified0.953930.9385HOM Link to ClinVar
768301706378Benignnot_provided..HOM Link to ClinVar
129120134566BenignFriedreich_ataxia_1
not_specified
Cardiovascular_phenotype
not_provided
0.999340.98482HOM Link to ClinVar
196398193559Benignnot_specified0.920890.89417HOM Link to ClinVar
4409153259Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.811460.77217HET Link to ClinVar
259554253576Benignnot_specified0.370420.35982HET Link to ClinVar
367237319047Likely_benignNonsyndromic_Hearing_Loss,_Dominant0.51830.45667HET Link to ClinVar
508095503181Benignnot_specified0.394920.3131HOM Link to ClinVar
367245313238BenignNonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.51218HET Link to ClinVar
367250308681BenignNonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.53954HET Link to ClinVar
4787457038Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.460950.51078HET Link to ClinVar
562091553260PathogenicDeafness,_autosomal_recessive_7..HET Link to ClinVar
4786357027Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.092720.04812HET Link to ClinVar
367300319708BenignHypomagnesemia_1,_intestinal0.101590.16873HET Link to ClinVar
367301308709BenignHypomagnesemia_1,_intestinal0.211230.29493HET Link to ClinVar
367314319714BenignHypomagnesemia_1,_intestinal0.235040.26837HET Link to ClinVar
367337319772Likely_benignChoreoacanthocytosis.0.08446HET Link to ClinVar
367371313352Likely_benignChoreoacanthocytosis0.091550.08387HET Link to ClinVar
367399319227BenignChoreoacanthocytosis0.109430.1248HET Link to ClinVar
367402319826Benign/Likely_benignChoreoacanthocytosis
not_provided
0.181910.16274HET Link to ClinVar
367404319827Likely_benignChoreoacanthocytosis..HET Link to ClinVar
367428319242BenignChoreoacanthocytosis
not_provided
.0.41514HET Link to ClinVar
367437308831Likely_benignChoreoacanthocytosis.0.16534HET Link to ClinVar
367445308846BenignChoreoacanthocytosis.0.57568HET Link to ClinVar
367449319255BenignChoreoacanthocytosis.0.2494HET Link to ClinVar
517538497120Benignnot_specified0.419160.28375HET Link to ClinVar
517539497057Benignnot_specified0.371640.28395HET Link to ClinVar
367450319878BenignPhosphoserine_aminotransferase_deficiency0.790090.76038HET Link to ClinVar
367454313452BenignPhosphoserine_aminotransferase_deficiency0.621970.4994HET Link to ClinVar
403012389874Benignnot_specified.0.65316HOM Link to ClinVar
403013389828Benignnot_specified0.122770.12081HET Link to ClinVar
403016389912Benignnot_specified0.122570.12081HET Link to ClinVar
683368664439Benignnot_provided..HOM Link to ClinVar
683351664444Benignnot_provided..HOM Link to ClinVar
367493319315BenignBrachydactyly
Robinow_syndrome,_autosomal_dominant_1
..HET Link to ClinVar
199097196256BenignBrachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified
0.731360.75739HET Link to ClinVar
159818168799BenignBrachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified
0.710320.748HET Link to ClinVar
159815168802BenignBrachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified
0.426780.41534HET Link to ClinVar
159821168809BenignBrachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified
0.63180.64497HOM Link to ClinVar
259431253585Benignnot_specified0.675240.623HOM Link to ClinVar
159823168811BenignBrachydactyly
Robinow_syndrome,_autosomal_dominant_1
not_specified
0.235340.19169HET Link to ClinVar
367550319975Benign/Likely_benignNeuropathy_hereditary_sensory_and_autonomic_type_1.0.01158HET Link to ClinVar
678245663918Benignnot_provided..HET Link to ClinVar
670372664457Benignnot_provided..HET Link to ClinVar
678244664458Benignnot_provided..HET Link to ClinVar
670371663925Benignnot_provided..HET Link to ClinVar
678242664462Benignnot_provided..HET Link to ClinVar
678240663929Benignnot_provided..HET Link to ClinVar
678238664697Benignnot_provided..HET Link to ClinVar
256318253586Benign/Likely_benignFructose-biphosphatase_deficiency
not_specified
0.524440.48702HOM Link to ClinVar
256326253587BenignFructose-biphosphatase_deficiency
not_specified
0.863730.90715HOM Link to ClinVar
256324253589Benign/Likely_benignFructose-biphosphatase_deficiency
not_specified
0.526590.48323HOM Link to ClinVar
256323253590BenignFructose-biphosphatase_deficiency
not_specified
0.956070.97644HOM Link to ClinVar
256321253592Benignnot_specified0.40150.34425HOM Link to ClinVar
367618320065Likely_benignHoloprosencephaly_sequence
Gorlin_syndrome
.0.21526HET Link to ClinVar
4166350102BenignHoloprosencephaly_sequence
Gorlin_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
.0.39677HOM Link to ClinVar
255668253618Likely_benignnot_specified..HET Link to ClinVar
668604664509Benignnot_provided..HET Link to ClinVar
255510253620Benignnot_specified0.226620.1887HOM Link to ClinVar
255509253621Benignnot_specified0.847980.86741HOM Link to ClinVar
255508253622Benignnot_specified..HET Link to ClinVar
190206187985BenignXeroderma_pigmentosum
not_specified
.0.64637HET Link to ClinVar
95096100996BenignBamforth_syndrome
not_specified
0.800530.88279HOM Link to ClinVar
95098100998BenignBamforth_syndrome
not_specified
0.686390.6861HET Link to ClinVar
13215618370..0.168580.16114HET Link to ClinVar
262847253637Benignnot_specified.0.8752HOM Link to ClinVar
262851253655Benignnot_specified0.260530.1238HET Link to ClinVar
262843253656Benignnot_specified0.692310.26597HOM Link to ClinVar
162170171883not_providednot_provided.0.30092HET Link to ClinVar
364112313819BenignLoeys-Dietz_syndrome
Loeys-Dietz_syndrome_1
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.33187HET Link to ClinVar
364155320250BenignLoeys-Dietz_syndrome
Loeys-Dietz_syndrome_1
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.32588HET Link to ClinVar
364189313875BenignLoeys-Dietz_syndrome
Loeys-Dietz_syndrome_1
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.32987HET Link to ClinVar
364220310311BenignNephronophthisis
not_specified
.0.27875HET Link to ClinVar
95594101492BenignNephronophthisis
Infantile_nephronophthisis
not_specified
not_provided
0.322440.21046HET Link to ClinVar
95597101495BenignNephronophthisis
Infantile_nephronophthisis
not_specified
not_provided
.0.40735HET Link to ClinVar
260414253246Benignnot_specified.0.75799HET Link to ClinVar
674703663440Benignnot_provided..HET Link to ClinVar
364267310356BenignHypercholanemia.0.73143HET Link to ClinVar
364275306252BenignHypercholanemia0.788630.71406HET Link to ClinVar
257518253251Benignnot_specified
Hypercholanemia
0.646110.5629HET Link to ClinVar
364288306261BenignHereditary_fructosuria.0.4978HET Link to ClinVar
364306315824BenignHereditary_fructosuria.0.44189HET Link to ClinVar
364341306320BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
.0.85763HOM Link to ClinVar
364350310442BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
..HET Link to ClinVar
364351310443BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
.0.44109HET Link to ClinVar
364361315940BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
.0.44549HET Link to ClinVar
364398315817BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
0.693630.53834HOM Link to ClinVar
364451306387BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
.0.08207HET Link to ClinVar
950624545BenignTangier_disease
Coronary_heart_disease_in_familial_hypercholesterolemia,_protection_against
Familial_High_Density_Lipoprotein_Deficiency
0.329940.4397HET Link to ClinVar
364460315879BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
.0.3724HET Link to ClinVar
364468306401BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
0.178980.14177HET Link to ClinVar
364470316138BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
..HET Link to ClinVar
364481316143BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
.0.36122HET Link to ClinVar
369619353848BenignTangier_disease
Familial_High_Density_Lipoprotein_Deficiency
.0.78714HOM Link to ClinVar
364484316150Likely_benignFukuyama_congenital_muscular_dystrophy
Dilated_Cardiomyopathy,_Recessive
.0.16693HET Link to ClinVar
9352299427Benign/Likely_benignFukuyama_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
0.244610.15815HET Link to ClinVar
680195663471Benignnot_provided..HET Link to ClinVar
672695663573Benignnot_provided..HET Link to ClinVar
671112662952Benignnot_provided..HET Link to ClinVar
9351099415Benign/Likely_benignFukuyama_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
0.251850.17832HET Link to ClinVar
283468267705Likely_benignnot_specified..HET Link to ClinVar
364524315938Uncertain_significanceFukuyama_congenital_muscular_dystrophy
Dilated_Cardiomyopathy,_Recessive
.0.10923HET Link to ClinVar
364525306441Uncertain_significanceFukuyama_congenital_muscular_dystrophy
Dilated_Cardiomyopathy,_Recessive
.0.06769HET Link to ClinVar
669660663588Benignnot_provided..HOM Link to ClinVar
364536306458BenignFamilial_dysautonomia.0.44728HET Link to ClinVar
364545316271Likely_benignFamilial_dysautonomia.0.07508HET Link to ClinVar
681916663463Benignnot_provided..HOM Link to ClinVar
681954663481Benignnot_provided..HET Link to ClinVar
673446663589Benignnot_provided..HET Link to ClinVar
681952663467Benignnot_provided..HET Link to ClinVar
681949663482Benignnot_provided..HET Link to ClinVar
681948662964Benignnot_provided..HET Link to ClinVar
681947662967Benignnot_provided..HET Link to ClinVar
681945663596Benignnot_provided..HOM Link to ClinVar
681892663483Benignnot_provided..HOM Link to ClinVar
681891663469Benignnot_provided..HOM Link to ClinVar
259113253259Benign/Likely_benignFamilial_dysautonomia
not_specified
not_provided
0.198780.24501HET Link to ClinVar
681939663485Benignnot_provided..HET Link to ClinVar
681918662987Benignnot_provided..HET Link to ClinVar
259112253260Benign/Likely_benignFamilial_dysautonomia
not_specified
not_provided
.0.24581HET Link to ClinVar
673445663484Benignnot_provided..HET Link to ClinVar
681914662994Benignnot_provided..HET Link to ClinVar
683637663487Benignnot_provided..HOM Link to ClinVar
681912663617Benignnot_provided..HOM Link to ClinVar
670532663525Benignnot_provided..HOM Link to ClinVar
681867663527Benignnot_provided..HOM Link to ClinVar
681861663029Benignnot_provided..HOM Link to ClinVar
681856663531Benignnot_provided..HOM Link to ClinVar
259115253264Benign/Likely_benignFamilial_dysautonomia
not_specified
0.09590.08646HET Link to ClinVar
681855663034Benignnot_provided..HOM Link to ClinVar
137583141286Benign/Likely_benignFamilial_dysautonomia
not_specified
not_provided
0.093560.07987HET Link to ClinVar
681852663507Benignnot_provided..HOM Link to ClinVar
476298458810Benignnot_provided..HOM Link to ClinVar
671339663691Benignnot_provided..HOM Link to ClinVar
673467663044Benignnot_provided..HET Link to ClinVar
683224663045Benignnot_provided..HOM Link to ClinVar
259808253267Benignnot_specified0.056970.05711HET Link to ClinVar
667461663517Benignnot_provided..HET Link to ClinVar
129635135081Benignnot_specified
Congenital_Myasthenic_Syndrome,_Recessive
0.241560.17013HET Link to ClinVar
684084663693Benignnot_provided..HET Link to ClinVar
259811253270Benignnot_specified
not_provided
.0.06909HET Link to ClinVar
683225663697Benignnot_provided..HOM Link to ClinVar
684078663048Benignnot_provided..HET Link to ClinVar
259813253272Benignnot_specified..HET Link to ClinVar
667462663712Benignnot_provided..HOM Link to ClinVar
667463663717Benignnot_provided..HOM Link to ClinVar
673483663538Benignnot_provided..HET Link to ClinVar
684079663521Benignnot_provided..HOM Link to ClinVar
259801253275Benignnot_specified
not_provided
0.944890.97005HOM Link to ClinVar
259804253278Benignnot_specified
not_provided
0.486480.3766HOM Link to ClinVar
129633135079BenignPena-Shokeir_syndrome_type_I
Myasthenic_syndrome,_congenital,_9,_associated_with_acetylcholine_receptor_deficiency
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
.0.10683HET Link to ClinVar
364618306496BenignPorphobilinogen_synthase_deficiency.0.78055HOM Link to ClinVar
364621316070Likely_benignPorphobilinogen_synthase_deficiency.0.01198HET Link to ClinVar
364632306504BenignPorphobilinogen_synthase_deficiency.0.59764HOM Link to ClinVar
364663316096Uncertain_significancePorphobilinogen_synthase_deficiency..HET Link to ClinVar
678779663054Benignnot_provided..HOM Link to ClinVar
4567254837Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.478560.40635HOM Link to ClinVar
163045174544BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
0.997960.99101HOM Link to ClinVar
4566354828Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.53110.48163HOM Link to ClinVar
678778663059Benignnot_provided..HOM Link to ClinVar
671522663523Benignnot_provided..HOM Link to ClinVar
678777663727Benignnot_provided..HOM Link to ClinVar
4565054815Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.794130.83007HOM Link to ClinVar
4564054805BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
0.994180.97724HOM Link to ClinVar
137078140781Benignnot_specified.0.25539HET Link to ClinVar
4564454809Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.333930.25559HET Link to ClinVar
364700316505Likely_benignRetinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive
.0.25539HET Link to ClinVar
364704316132Likely_benignRetinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive
.0.27616HET Link to ClinVar
364707316135Likely_benignRetinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive
.0.27636HET Link to ClinVar
364711316153Likely_benignRetinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive
..HET Link to ClinVar
95495101394Benign/Likely_benignSarcotubular_myopathy
Bardet-Biedl_syndrome
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.109470.10363HET Link to ClinVar
364723310785BenignBardet-Biedl_syndrome
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.94908HOM Link to ClinVar
771880700773Benignnot_provided..HET Link to ClinVar
668863663577Benignnot_provided..HOM Link to ClinVar
136705140408Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_3
not_specified
Primary_Microcephaly,_Recessive
0.150390.23283HET Link to ClinVar
158132168738Likely_benignnot_specified0.148910.21046HET Link to ClinVar
158127167980Benignnot_specified
not_provided
0.876260.79573HET Link to ClinVar
678304663781Benignnot_provided..HET Link to ClinVar
158171168744Likely_benignnot_specified.0.14697HET Link to ClinVar
2165734509BenignPrimary_autosomal_recessive_microcephaly_3
not_specified
Primary_Microcephaly,_Recessive
0.877170.80112HET Link to ClinVar
136707140410Benign/Likely_benignnot_specified
Primary_Microcephaly,_Recessive
.0.11661HET Link to ClinVar
678303663551Benignnot_provided..HOM Link to ClinVar
668860663554Benignnot_provided..HOM Link to ClinVar
670443663578Benignnot_provided..HET Link to ClinVar
678302663082Benignnot_provided..HET Link to ClinVar
95896101792BenignPrimary_autosomal_recessive_microcephaly_3
not_specified
Primary_Microcephaly,_Recessive
0.992140.98043HOM Link to ClinVar
95895101791BenignPrimary_autosomal_recessive_microcephaly_3
not_specified
Primary_Microcephaly,_Recessive
0.987820.96546HOM Link to ClinVar
668859663084Benignnot_provided..HET Link to ClinVar
403564389868Benignnot_specified0.687680.73203HOM Link to ClinVar
402454389792Benignnot_specified0.458640.40475HOM Link to ClinVar
402455389839Benignnot_specified0.456980.40575HOM Link to ClinVar
403271390573Benignnot_specified..HOM Link to ClinVar
180703178868BenignFocal_segmental_glomerulosclerosis_9
not_provided
0.00135.HET Link to ClinVar
701815687351Benignnot_provided..HET Link to ClinVar
701816687352Benignnot_provided..HET Link to ClinVar
258622253286BenignNail-patella_syndrome
not_specified
0.340270.22764HOM Link to ClinVar
364909310869BenignNail-patella_syndrome.0.21805HET Link to ClinVar
364912316399BenignNail-patella_syndrome.0.20567HET Link to ClinVar
364913316653BenignNail-patella_syndrome.0.23403HET Link to ClinVar
364935310880BenignNail-patella_syndrome.0.41034HET Link to ClinVar
364939306743BenignNail-patella_syndrome.0.21685HET Link to ClinVar
364952310893BenignNail-patella_syndrome.0.49701HET Link to ClinVar
364957316709BenignNail-patella_syndrome..HET Link to ClinVar
364961316717BenignNail-patella_syndrome.0.28734HET Link to ClinVar
364964316722BenignNail-patella_syndrome.0.30152HET Link to ClinVar
364967316735BenignNail-patella_syndrome.0.27915HET Link to ClinVar
364968316736BenignNail-patella_syndrome.0.21546HET Link to ClinVar
364979310920BenignNail-patella_syndrome.0.54074HET Link to ClinVar
364982310921BenignNail-patella_syndrome.0.54812HET Link to ClinVar
364983316487BenignNail-patella_syndrome.0.54832HET Link to ClinVar
364987316496BenignNail-patella_syndrome.0.53235HET Link to ClinVar
364992316768BenignNail-patella_syndrome.0.55112HET Link to ClinVar
670536663086Benignnot_provided..HOM Link to ClinVar
683120663090Benignnot_provided..HOM Link to ClinVar
365009306822BenignCharcot-Marie-Tooth_disease_type_2P
Charcot-Marie-Tooth_disease,_type_2
.0.55751HOM Link to ClinVar
670537663582Benignnot_provided..HOM Link to ClinVar
670538663102Benignnot_provided..HOM Link to ClinVar
683123663557Benignnot_provided..HOM Link to ClinVar
684245663784Benignnot_provided..HOM Link to ClinVar
670497663794Benignnot_provided..HOM Link to ClinVar
683118663806Benignnot_provided..HOM Link to ClinVar
670496663811Benignnot_provided..HOM Link to ClinVar
365020310994BenignCharcot-Marie-Tooth_disease_type_2P
Charcot-Marie-Tooth_disease,_type_2
0.423250.35204HOM Link to ClinVar
365021306833BenignCharcot-Marie-Tooth_disease_type_2P
Charcot-Marie-Tooth_disease,_type_2
0.777620.72724HOM Link to ClinVar
683125663106Benignnot_provided..HOM Link to ClinVar
684248663813Benignnot_provided..HOM Link to ClinVar
683127663820Benignnot_provided..HOM Link to ClinVar
683119663821Benignnot_provided..HOM Link to ClinVar
683129663591Benignnot_provided..HOM Link to ClinVar
365033310996BenignCharcot-Marie-Tooth_disease_type_2P
Charcot-Marie-Tooth_disease,_type_2
.0.72883HOM Link to ClinVar
670143663132Benignnot_provided..HOM Link to ClinVar
670144663138Benignnot_provided..HOM Link to ClinVar
439396433354Benignnot_specified0.999450.9982HOM Link to ClinVar
128921134368BenignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1u
not_specified
0.78730.68351HOM Link to ClinVar
128920134367BenignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1u
not_specified
.0.73103HOM Link to ClinVar
679336663618Benignnot_provided..HOM Link to ClinVar
365118306884BenignCongenital_disorder_of_glycosylation
not_provided
.0.68391HOM Link to ClinVar
365125306897BenignCongenital_disorder_of_glycosylation
not_provided
.0.68391HOM Link to ClinVar
403029389888Benignnot_specified.0.47923HET Link to ClinVar
679298663636Benignnot_provided..HET Link to ClinVar
679299663620Benignnot_provided..HOM Link to ClinVar
679313663638Benignnot_provided..HET Link to ClinVar
679300663874Benignnot_provided..HET Link to ClinVar
679301663639Benignnot_provided..HET Link to ClinVar
380777370266BenignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
0.532550.45467HET Link to ClinVar
679316663151Benignnot_provided..HET Link to ClinVar
679303663625Benignnot_provided..HET Link to ClinVar
679304663881Benignnot_provided..HET Link to ClinVar
679307663664Benignnot_provided..HET Link to ClinVar
679309663887Benignnot_provided..HET Link to ClinVar
128832134280Benignnot_specified
not_provided
.0.13339HET Link to ClinVar
683561663678Benignnot_provided..HOM Link to ClinVar
380011372181Benignnot_specified0.2450.3778HET Link to ClinVar
676201663641Benignnot_provided..HET Link to ClinVar
256859253313Benignnot_specified..HET Link to ClinVar
198109195270BenignLethal_arthrogryposis_with_anterior_horn_cell_disease
not_specified
Lethal_congenital_contracture_syndrome
0.267870.34744HET Link to ClinVar
256856253316Benignnot_specified.0.26937HET Link to ClinVar
256858253318Benignnot_specified0.267980.34705HET Link to ClinVar
365136317080BenignLethal_arthrogryposis_with_anterior_horn_cell_disease
Lethal_congenital_contracture_syndrome
.0.26597HET Link to ClinVar
680786663889Benignnot_provided..HOM Link to ClinVar
670130663680Benignnot_provided..HET Link to ClinVar
680787663682Benignnot_provided..HET Link to ClinVar
670623663894Benignnot_provided..HET Link to ClinVar
160023168756Likely_benignnot_specified.0.95148HOM Link to ClinVar
670131663177Benignnot_provided..HET Link to ClinVar
680788663650Benignnot_provided..HET Link to ClinVar
680789663193Benignnot_provided..HOM Link to ClinVar
680790663690Benignnot_provided..HOM Link to ClinVar
670132663196Benignnot_provided..HET Link to ClinVar
160001168766Likely_benignnot_specified0.990980.96905HOM Link to ClinVar
160002168767Benignnot_specified
not_provided
0.792830.61921HET Link to ClinVar
670575663667Benignnot_provided..HET Link to ClinVar
680791663702Benignnot_provided..HET Link to ClinVar
160009168774BenignSeizures
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided
0.806380.64277HET Link to ClinVar
670576663718Benignnot_provided..HET Link to ClinVar
160013168778Likely_benignnot_specified0.991130.96825HOM Link to ClinVar
139297143000BenignSeizures
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided
0.791320.61701HET Link to ClinVar
675006663732Benignnot_provided..HOM Link to ClinVar
160018168783Benignnot_specified
not_provided
0.186630.30931HET Link to ClinVar
160021168786Benignnot_specified
not_provided
0.791510.61142HET Link to ClinVar
670577663692Benignnot_provided..HET Link to ClinVar
670133663237Benignnot_provided..HET Link to ClinVar
670134663239Benignnot_provided..HET Link to ClinVar
680792663251Benignnot_provided..HET Link to ClinVar
160025168789Likely_benignnot_specified0.974930.91933HOM Link to ClinVar
680795663734Benignnot_provided..HOM Link to ClinVar
680796663253Benignnot_provided..HOM Link to ClinVar
516214502578Benignnot_specified0.788270.62141HET Link to ClinVar
516213502261Benignnot_specified0.804560.60144HET Link to ClinVar
516212502581Benignnot_specified0.826820.74002HET Link to ClinVar
516203502690BenignShort-rib_thoracic_dysplasia_11_with_or_without_polydactyly
not_specified
0.9998.HOM Link to ClinVar
403061389851Benignnot_specified0.694380.57109HET Link to ClinVar
439873433677BenignAgammaglobulinemia_5,_autosomal_dominant0.036680.03055HET Link to ClinVar
403263389857Benignnot_specified0.349370.26178HET Link to ClinVar
403264389889Benignnot_specified0.356730.27915HET Link to ClinVar
403265389875Benignnot_specified0.150030.24441HET Link to ClinVar
403266389796Benignnot_specified0.431280.45168HOM Link to ClinVar
365216307031Likely_benignDystonia_1.0.15675HET Link to ClinVar
365225316771Likely_benignDystonia_1.0.07867HET Link to ClinVar
365229316779Likely_benignDystonia_1.0.15875HET Link to ClinVar
255134253324Benign/Likely_benignDystonia_1
not_specified
0.227470.22624HET Link to ClinVar
365239307052Uncertain_significanceCitrullinemia_type_I..HET Link to ClinVar
683297663720Benignnot_provided..HOM Link to ClinVar
9237098281BenignCitrullinemia_type_I
not_specified
0.850030.79233HOM Link to ClinVar
802519790846BenignCitrullinemia_type_I..HOM Link to ClinVar
683317663936Benignnot_provided..HET Link to ClinVar
254749253332Benignnot_specified..HOM Link to ClinVar
9237698287Benign/Likely_benignCitrullinemia_type_I
not_specified
0.094160.07668HET Link to ClinVar
291084275321Conflicting_interpretations_of_pathogenicitynot_specified
not_provided
00.00499HET Link to ClinVar
435741428927Benign/Likely_benignnot_specified..HET Link to ClinVar
129474134920Benign/Likely_benignCortical_malformations,_occipital
not_specified
.0.84824HOM Link to ClinVar
129477134923Benign/Likely_benignCortical_malformations,_occipital
not_specified
0.455790.39836HET Link to ClinVar
129448134894Likely_benignnot_specified0.077460.07488HET Link to ClinVar
129449134895Benign/Likely_benignCortical_malformations,_occipital
not_specified
0.211790.15495HET Link to ClinVar
682995663254Benignnot_provided..HET Link to ClinVar
684032663740Benignnot_provided..HET Link to ClinVar
129451134897BenignCortical_malformations,_occipital
not_specified
0.284050.25859HET Link to ClinVar
129452134898Likely_benignnot_specified0.459240.47125HET Link to ClinVar
129454134900Benign/Likely_benignCortical_malformations,_occipital
not_specified
0.449570.47983HET Link to ClinVar
682996663262Benignnot_provided..HET Link to ClinVar
682997663264Benignnot_provided..HET Link to ClinVar
682998663747Benignnot_provided..HET Link to ClinVar
670957663272Benignnot_provided..HOM Link to ClinVar
129456134902Benign/Likely_benignCortical_malformations,_occipital
not_specified
.0.78674HOM Link to ClinVar
682999663278Benignnot_provided..HOM Link to ClinVar
684033663951Benignnot_provided..HOM Link to ClinVar
684035663954Benignnot_provided..HOM Link to ClinVar
684036663728Benignnot_provided..HOM Link to ClinVar
684039663279Benignnot_provided..HOM Link to ClinVar
684041663751Benignnot_provided..HOM Link to ClinVar
669392663753Benignnot_provided..HET Link to ClinVar
684043663754Benignnot_provided..HOM Link to ClinVar
683000663955Benignnot_provided..HET Link to ClinVar
684044663731Benignnot_provided..HET Link to ClinVar
683003663738Benignnot_provided..HET Link to ClinVar
129458134904Benignnot_specified.0.29293HET Link to ClinVar
129459134905Benignnot_specified0.369430.29313HET Link to ClinVar
129460134906BenignCortical_malformations,_occipital
not_specified
0.793120.69908HOM Link to ClinVar
683006663280Benignnot_provided..HET Link to ClinVar
129464134910Benignnot_specified0.235940.16773HET Link to ClinVar
129465134911Benign/Likely_benignCortical_malformations,_occipital
not_specified
0.284710.22205HET Link to ClinVar
129466134912Benignnot_specified0.230920.16334HET Link to ClinVar
129467134913Benign/Likely_benignCortical_malformations,_occipital
not_specified
0.407980.37121HET Link to ClinVar
683007663285Benignnot_provided..HET Link to ClinVar
683933663742Benignnot_provided..HOM Link to ClinVar
667978663286Benignnot_provided..HOM Link to ClinVar
667979663960Benignnot_provided..HOM Link to ClinVar
683940663758Benignnot_provided..HOM Link to ClinVar
667980663288Benignnot_provided..HOM Link to ClinVar
260149253336Benignnot_specified
not_provided
0.923290.87101HOM Link to ClinVar
667981663761Benignnot_provided..HOM Link to ClinVar
667982663762Benignnot_provided..HOM Link to ClinVar
227021229676Benignnot_specified0.923020.87061HOM Link to ClinVar
260151253338Benignnot_specified
not_provided
.0.87081HOM Link to ClinVar
667983663291Benignnot_provided..HOM Link to ClinVar
683942663745Benignnot_provided..HOM Link to ClinVar
260152253339Benignnot_specified
not_provided
0.993130.98123HOM Link to ClinVar
167519177969Benignnot_specified0.923080.87081HOM Link to ClinVar
260139253340Benignnot_specified
not_provided
0.923110.87081HOM Link to ClinVar
668002663967Benignnot_provided..HOM Link to ClinVar
668003663294Benignnot_provided..HOM Link to ClinVar
683944663746Benignnot_provided..HOM Link to ClinVar
668004663970Benignnot_provided..HOM Link to ClinVar
668005663764Benignnot_provided..HOM Link to ClinVar
167520177970Benignnot_specified0.923190.87081HOM Link to ClinVar
669393663766Benignnot_provided..HOM Link to ClinVar
668006663767Benignnot_provided..HOM Link to ClinVar
670963663299Benignnot_provided..HOM Link to ClinVar
668009663752Benignnot_provided..HOM Link to ClinVar
260142253343Benignnot_specified
not_provided
0.900840.83147HOM Link to ClinVar
668011663787Benignnot_provided..HOM Link to ClinVar
683948663308Benignnot_provided..HOM Link to ClinVar
668013663795Benignnot_provided..HOM Link to ClinVar
668014663987Benignnot_provided..HOM Link to ClinVar
95460101359Benignnot_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
0.899610.83167HOM Link to ClinVar
668015663768Benignnot_provided..HOM Link to ClinVar
260136253349Benignnot_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
0.924450.87041HOM Link to ClinVar
288427272664Benignnot_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.87081HOM Link to ClinVar
365290307106BenignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.87121HOM Link to ClinVar
365291311230BenignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.98123HOM Link to ClinVar
365293311243BenignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.86641HOM Link to ClinVar
365295317271BenignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.749HOM Link to ClinVar
365305307130Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
.0.09545HET Link to ClinVar
365332307148Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
..HET Link to ClinVar
95669101566Benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
0.392610.53874HET Link to ClinVar
260516253351Benignnot_specified0.172880.25HET Link to ClinVar
260514253353Benign/Likely_benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
0.091150.09465HET Link to ClinVar
260513253354Benignnot_specified0.388410.53395HET Link to ClinVar
95667101564Benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
0.288010.44169HET Link to ClinVar
95666101563Benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
0.252830.374HET Link to ClinVar
95665101562Benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
0.275790.44309HET Link to ClinVar
95664101561Benignnot_specified.0.3748HET Link to ClinVar
95663101560Benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
0.725160.55611HET Link to ClinVar
95662101559BenignAmyotrophic_lateral_sclerosis_type_4
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
0.725080.55611HET Link to ClinVar
95661101558Benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
.0.64058HET Link to ClinVar
193716190879Benign/Likely_benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
0.107230.11422HET Link to ClinVar
95658101555Benignnot_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
Ataxia_with_Oculomotor_Apraxia
not_provided
0.74770.6266HET Link to ClinVar
365414316990BenignTuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II
.0.72584HET Link to ClinVar
365476317457BenignTuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II
.0.77336HET Link to ClinVar
365477317459BenignTuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II
.0.45068HET Link to ClinVar
365479311481BenignTuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II
.0.55212HET Link to ClinVar
365480317467BenignTuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II
.0.7482HET Link to ClinVar
365504317055BenignTuberous_sclerosis_syndrome
Focal_cortical_dysplasia_type_II
..HET Link to ClinVar
4169750136BenignTuberous_sclerosis_syndrome
not_provided
..HET Link to ClinVar
670691663309Benignnot_provided..HET Link to ClinVar
668726663778Benignnot_provided..HET Link to ClinVar
676422663990Benignnot_provided..HET Link to ClinVar
139377143080BenignLeigh_syndrome
not_specified
0.535360.51198HET Link to ClinVar
666612654535Benignnot_specified..HET Link to ClinVar
24280620852BenignUpshaw-Schulman_syndrome
not_specified
0.453020.27157HET Link to ClinVar
262450253402BenignUpshaw-Schulman_syndrome
not_specified
.0.23063HET Link to ClinVar
680522663780Benignnot_provided..HET Link to ClinVar
680461663992Benignnot_provided..HET Link to ClinVar
680523663995Benignnot_provided..HET Link to ClinVar
680462663997Benignnot_provided..HET Link to ClinVar
680463663786Benignnot_provided..HET Link to ClinVar
680464663812Benignnot_provided..HOM Link to ClinVar
680465663816Benignnot_provided..HOM Link to ClinVar
680466663817Benignnot_provided..HET Link to ClinVar
680467663999Benignnot_provided..HOM Link to ClinVar
680519663818Benignnot_provided..HET Link to ClinVar
680468664001Benignnot_provided..HET Link to ClinVar
365578307319BenignGeleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided
..HOM Link to ClinVar
680470663789Benignnot_provided..HOM Link to ClinVar
680471664007Benignnot_provided..HET Link to ClinVar
365581311619BenignGeleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided
0.819380.72404HOM Link to ClinVar
365582307323BenignGeleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided
0.819680.72464HOM Link to ClinVar
365583307324BenignGeleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided
.0.72464HOM Link to ClinVar
365585311626BenignGeleophysic_dysplasia_1
Geleophysic_dysplasia
not_provided
0.818090.72045HOM Link to ClinVar
680472664018Benignnot_provided..HOM Link to ClinVar
518396508836BenignGeleophysic_dysplasia_1..HET Link to ClinVar
365614311656BenignGeleophysic_dysplasia.0.46366HET Link to ClinVar
217759214409BenignOrthostatic_hypotension_1.0.78734HET Link to ClinVar
217758214410BenignOrthostatic_hypotension_10.459870.42991HET Link to ClinVar
365637307375Likely_benignOrthostatic_hypotension_1.0.02796HET Link to ClinVar
365653317212BenignOrthostatic_hypotension_1.0.1244HET Link to ClinVar
365661317218BenignOrthostatic_hypotension_10.557070.62121HET Link to ClinVar
365667317226BenignOrthostatic_hypotension_10.273370.24042HET Link to ClinVar
768335777727Benignnot_provided..HET Link to ClinVar
365701311702BenignEhlers-Danlos_syndrome,_type_7A
not_provided
.0.9994HOM Link to ClinVar
683369663804Benignnot_provided..HET Link to ClinVar
672237663826Benignnot_provided..HET Link to ClinVar
672239663370Benignnot_provided..HOM Link to ClinVar
683371663819Benignnot_provided..HOM Link to ClinVar
672240663829Benignnot_provided..HOM Link to ClinVar
136922140625BenignEhlers-Danlos_syndrome,_type_7A
not_specified
Cardiovascular_phenotype
not_provided
.0.34265HOM Link to ClinVar
672241663853Benignnot_provided..HOM Link to ClinVar
683374663834Benignnot_provided..HOM Link to ClinVar
672242663854Benignnot_provided..HOM Link to ClinVar
255100253405Benignnot_specified
not_provided
.0.40895HOM Link to ClinVar
672243663845Benignnot_provided..HOM Link to ClinVar
255102253406Benignnot_specified
not_provided
0.459320.40815HOM Link to ClinVar
255101253407Benignnot_specified
not_provided
0.459040.40875HOM Link to ClinVar
672244664051Benignnot_provided..HOM Link to ClinVar
672245663850Benignnot_provided..HOM Link to ClinVar
255049253410BenignEhlers-Danlos_syndrome,_classic_type
not_specified
not_provided
.0.41933HOM Link to ClinVar
439524433429BenignEhlers-Danlos_syndrome,_classic_type
not_provided
.0.70807HOM Link to ClinVar
683357663855Benignnot_provided..HOM Link to ClinVar
678461664110Benignnot_provided..HET Link to ClinVar
672246664115Benignnot_provided..HET Link to ClinVar
673129663891Likely_benignnot_provided..HET Link to ClinVar
255061253422Benignnot_specified
not_provided
0.027320.03055HET Link to ClinVar
670978663893Benignnot_provided..HET Link to ClinVar
670979664119Benignnot_provided..HET Link to ClinVar
673131663897Benignnot_provided..HET Link to ClinVar
678518663418Likely_benignnot_provided..HET Link to ClinVar
683367663888Benignnot_provided..HET Link to ClinVar
673132663914Benignnot_provided..HET Link to ClinVar
674554664145Likely_benignnot_provided..HET Link to ClinVar
669861663916Benignnot_provided..HET Link to ClinVar
136866140569Benignnot_specified
not_provided
0.408840.28794HET Link to ClinVar
669630663438Benignnot_provided..HET Link to ClinVar
669899663442Likely_benignnot_provided..HET Link to ClinVar
255062253423Benignnot_specified
not_provided
0.134940.15296HET Link to ClinVar
674557664176Benignnot_provided..HET Link to ClinVar
674560663928Likely_benignnot_provided..HET Link to ClinVar
683375664183Benignnot_provided..HET Link to ClinVar
255067253428Benignnot_specified0.086410.0609HET Link to ClinVar
673905663450Likely_benignnot_provided..HET Link to ClinVar
672247663948Benignnot_provided..HOM Link to ClinVar
255069253430Benignnot_specified
not_provided
0.611350.69169HET Link to ClinVar
671001663965Benignnot_provided..HET Link to ClinVar
672248663454Benignnot_provided..HET Link to ClinVar
672249664185Benignnot_provided..HET Link to ClinVar
672275663904Benignnot_provided..HET Link to ClinVar
669635663985Benignnot_provided..HET Link to ClinVar
673590664194Benignnot_provided..HET Link to ClinVar
669741664002Likely_benignnot_provided..HET Link to ClinVar
674562663473Likely_benignnot_provided..HET Link to ClinVar
674563664009Benignnot_provided..HET Link to ClinVar
683378663910Benignnot_provided..HET Link to ClinVar
674564664015Likely_benignnot_provided..HET Link to ClinVar
683381664237Benignnot_provided..HET Link to ClinVar
683384664017Benignnot_provided..HET Link to ClinVar
255078253438Benignnot_specified0.143760.2472HET Link to ClinVar
255081253442Benignnot_specified.0.45288HET Link to ClinVar
255082253443Benignnot_specified0.101890.10503HET Link to ClinVar
136881140584Benignnot_specified
not_provided
0.10820.10523HET Link to ClinVar
683385664023Benignnot_provided..HET Link to ClinVar
683386664255Benignnot_provided..HET Link to ClinVar
439526433431BenignEhlers-Danlos_syndrome,_classic_type.0.58227HET Link to ClinVar
136900140603BenignEhlers-Danlos_syndrome,_type_7A
not_specified
Cardiovascular_phenotype
not_provided
.0.40815HET Link to ClinVar
683387664266Benignnot_provided..HET Link to ClinVar
683393663949Benignnot_provided..HET Link to ClinVar
255089253450Benignnot_specified0.565850.60943HET Link to ClinVar
674275663508Benignnot_provided..HET Link to ClinVar
672278664054Benignnot_provided..HOM Link to ClinVar
255092253454Benignnot_specified
not_provided
0.72580.74601HOM Link to ClinVar
672279664058Benignnot_provided..HOM Link to ClinVar
672281664291Benignnot_provided..HET Link to ClinVar
668951664072Benignnot_provided..HET Link to ClinVar
365741311762BenignEhlers-Danlos_syndrome,_type_7A.0.7514HOM Link to ClinVar
365746317325BenignEhlers-Danlos_syndrome,_type_7A.0.34944HOM Link to ClinVar
365760307524BenignEhlers-Danlos_syndrome,_type_7A
Ehlers-Danlos_syndrome,_classic_type
.0.32528HOM Link to ClinVar
365764307541BenignEhlers-Danlos_syndrome,_type_7A..HOM Link to ClinVar
365768311778BenignEhlers-Danlos_syndrome,_type_7A..HOM Link to ClinVar
365769317776BenignEhlers-Danlos_syndrome,_type_7A.0.60643HOM Link to ClinVar
365791307555BenignEhlers-Danlos_syndrome,_type_7A.0.75739HOM Link to ClinVar
365795317385BenignEhlers-Danlos_syndrome,_type_7A.0.57608HOM Link to ClinVar
682078664012Benignnot_provided..HET Link to ClinVar
682095664019Benignnot_provided..HET Link to ClinVar
674495664034Likely_benignnot_provided..HET Link to ClinVar
682099664039Benignnot_provided..HET Link to ClinVar
682103664103Benignnot_provided..HET Link to ClinVar
261360253461Benignnot_specified0.022620.02236HET Link to ClinVar
261361253462Benignnot_specified0.217580.20787HET Link to ClinVar
674496664104Likely_benignnot_provided..HET Link to ClinVar
682105664323Benignnot_provided..HET Link to ClinVar
682121664108Benignnot_provided..HET Link to ClinVar
682123664046Benignnot_provided..HET Link to ClinVar
682126664114Benignnot_provided..HET Link to ClinVar
129353134799BenignSeizures
not_specified
0.267970.35543HET Link to ClinVar
194782191945Benignnot_specified0.712630.74421HET Link to ClinVar
674497664137Likely_benignnot_provided..HET Link to ClinVar
682122663576Benignnot_provided..HET Link to ClinVar
682124663581Benignnot_provided..HET Link to ClinVar
682129663607Benignnot_provided..HET Link to ClinVar
674514664154Likely_benignnot_provided..HET Link to ClinVar
682136664362Benignnot_provided..HET Link to ClinVar
674515664109Likely_benignnot_provided..HET Link to ClinVar
671967664161Benignnot_provided..HET Link to ClinVar
671968664112Benignnot_provided..HET Link to ClinVar
682422664163Benignnot_provided..HET Link to ClinVar
682425664365Benignnot_provided..HET Link to ClinVar
682427663610Benignnot_provided..HET Link to ClinVar
682428664169Benignnot_provided..HET Link to ClinVar
129357134803BenignSeizures
not_specified
not_provided
0.66870.65216HET Link to ClinVar
365828311847BenignFamilial_Candidiasis,_Recessive0.32040.25419HET Link to ClinVar
365857307609Benignnot_specified
Familial_Candidiasis,_Recessive
0.402230.36621HET Link to ClinVar
365858317914Benignnot_specified
Familial_Candidiasis,_Recessive
0.401950.36661HET Link to ClinVar
402489389800Benignnot_specified0.408810.36941HET Link to ClinVar
402490389882Benignnot_specified.0.32788HET Link to ClinVar
365868311884BenignJoubert_syndrome.0.36582HET Link to ClinVar
365873317479BenignJoubert_syndrome.0.3776HET Link to ClinVar
365875311894BenignJoubert_syndrome.0.38279HET Link to ClinVar
365877317952Likely_benignJoubert_syndrome.0.14836HET Link to ClinVar
129272134718Benign/Likely_benignJoubert_syndrome
not_specified
not_provided
0.204730.17392HET Link to ClinVar
261197253468Benignnot_specified0.00750.26717HET Link to ClinVar
129266134712BenignJoubert_syndrome
not_specified
not_provided
0.400430.3778HET Link to ClinVar
675038663631Benignnot_provided..HET Link to ClinVar
129265134711BenignJoubert_syndrome
not_specified
not_provided
0.41940.3784HET Link to ClinVar
215526212658Benign/Likely_benignJoubert_syndrome
not_specified
not_provided
..HET Link to ClinVar
675037664130Benignnot_provided..HET Link to ClinVar
681966663637Benignnot_provided..HET Link to ClinVar
261203253479BenignJoubert_syndrome
not_specified
not_provided
..HOM Link to ClinVar
678142664218Benignnot_provided..HET Link to ClinVar
678564664219Benignnot_provided..HET Link to ClinVar
678563664417Benignnot_provided..HET Link to ClinVar
678562664220Benignnot_provided..HET Link to ClinVar
678559664419Benignnot_provided..HET Link to ClinVar
678557664425Benignnot_provided..HET Link to ClinVar
678016664432Benignnot_provided..HET Link to ClinVar
678556664160Benignnot_provided..HET Link to ClinVar
678141664437Benignnot_provided..HET Link to ClinVar
678084664167Benignnot_provided..HET Link to ClinVar
281108265345BenignAortic_valve_disorder
not_specified
Cardiovascular_phenotype
.0.58546HET Link to ClinVar
678554663646Benignnot_provided..HET Link to ClinVar
678140664182Benignnot_provided..HET Link to ClinVar
677898663651Benignnot_provided..HET Link to ClinVar
678133663652Benignnot_provided..HET Link to ClinVar
678549664191Benignnot_provided..HET Link to ClinVar
383780372816Benignnot_specified0.870410.88399HOM Link to ClinVar
678547664256Benignnot_provided..HET Link to ClinVar
678543663684Benignnot_provided..HET Link to ClinVar
365901317995BenignCongenital_generalized_lipodystrophy.0.33407HOM Link to ClinVar
365903318011Uncertain_significanceCongenital_generalized_lipodystrophy.0.001HET Link to ClinVar
365904307661BenignCongenital_generalized_lipodystrophy.0.80332HOM Link to ClinVar
365913311915BenignCongenital_generalized_lipodystrophy.0.80052HOM Link to ClinVar
129574135020BenignHistory_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive
not_provided
0.975880.90535HOM Link to ClinVar
129573135019BenignHistory_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive
0.28380.17832HET Link to ClinVar
129577135023BenignHistory_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Recessive
not_provided
.0.8099HET Link to ClinVar
388019370291Benign/Likely_benignnot_specified
not_provided
0.002370.0002HET Link to ClinVar
683402664484Benignnot_provided..HOM Link to ClinVar
129179134625Benignnot_specified
not_provided
0.935580.93351HOM Link to ClinVar
681625664281Benignnot_provided..HOM Link to ClinVar
281214265451BenignAutosomal_recessive_hypophosphatemic_bone_disease
not_specified
not_provided
0.444490.45567HET Link to ClinVar
194277191440Benignnot_specified0.883080.94609HOM Link to ClinVar
194276191439Benignnot_specified
not_provided
.0.32907HET Link to ClinVar
6572476632BenignKleefstra_syndrome_1
History_of_neurodevelopmental_disorder
not_specified
0.396960.46885HET Link to ClinVar
96142102036BenignKleefstra_syndrome_1
not_specified
0.062240.13698HET Link to ClinVar
802555790882BenignNEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_NONEPILEPTIC_HYPERKINETIC_MOVEMENTS..HET Link to ClinVar
771737700932Likely_benignnot_provided..HET Link to ClinVar
300213321772Likely_benignInterleukin_2_receptor,_alpha,_deficiency_of.0.0599HET Link to ClinVar
300224322463BenignInterleukin_2_receptor,_alpha,_deficiency_of.0.35483HOM Link to ClinVar
300234322478Likely_benignInterleukin_2_receptor,_alpha,_deficiency_of.0.09026HET Link to ClinVar
300256321833BenignInterleukin_2_receptor,_alpha,_deficiency_of0.060140.0603HET Link to ClinVar
300258322504BenignInterleukin_2_receptor,_alpha,_deficiency_of0.360750.32029HET Link to ClinVar
300259321841BenignInterleukin_2_receptor,_alpha,_deficiency_of
not_specified
0.212610.17931HET Link to ClinVar
301109322770BenignBarakat_syndrome.0.49022HOM Link to ClinVar
301133322826Uncertain_significanceBarakat_syndrome..HOM Link to ClinVar
301140323466BenignBarakat_syndrome.0.86502HOM Link to ClinVar
299207314580BenignPrimary_open_angle_glaucoma
Amyotrophic_Lateral_Sclerosis,_Recessive
.0.17312HET Link to ClinVar
96022101916BenignPrimary_open_angle_glaucoma
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
.0.17832HET Link to ClinVar
197846195007BenignPrimary_open_angle_glaucoma
not_specified
Amyotrophic_Lateral_Sclerosis,_Recessive
0.815560.80391HOM Link to ClinVar
802562790945BenignPrimary_open_angle_glaucoma..HOM Link to ClinVar
368895353124BenignPrimary_open_angle_glaucoma
Amyotrophic_Lateral_Sclerosis,_Recessive
.0.17911HET Link to ClinVar
299239309744BenignPhytanic_acid_storage_disease..HET Link to ClinVar
299240309747BenignPhytanic_acid_storage_disease.0.23642HET Link to ClinVar
95349101248BenignPhytanic_acid_storage_disease
not_specified
not_provided
0.239430.23902HET Link to ClinVar
129891135337BenignPhytanic_acid_storage_disease
not_specified
not_provided
0.990780.97244HOM Link to ClinVar
758222621Benign/Likely_benignPhytanic_acid_storage_disease
not_specified
not_provided
0.150380.09764HOM Link to ClinVar
299305309805Uncertain_significanceHistiocytic_medullary_reticulosis..HET Link to ClinVar
3599944663Benign/Likely_benignSevere_combined_immunodeficiency_disease
Severe_combined_immunodeficiency_with_sensitivity_to_ionizing_radiation
Histiocytic_medullary_reticulosis
not_specified
0.090540.11681HET Link to ClinVar
299373321422BenignMegaloblastic_anemia
not_provided
0.716970.63598HET Link to ClinVar
299388321438Likely_benignMegaloblastic_anemia0.107530.11701HET Link to ClinVar
299389320825Benign/Likely_benignMegaloblastic_anemia
Megaloblastic_anemia_due_to_inborn_errors_of_metabolism
0.091120.0629HET Link to ClinVar
439578433470BenignMegaloblastic_anemia_due_to_inborn_errors_of_metabolism.0.77137HOM Link to ClinVar
299409321443BenignMegaloblastic_anemia
not_provided
0.999981HOM Link to ClinVar
299437309899BenignMegaloblastic_anemia
not_provided
0.995810.99341HOM Link to ClinVar
299438309900Likely_benignMegaloblastic_anemia0.130690.13459HET Link to ClinVar
299444314859BenignMegaloblastic_anemia0.206480.19689HET Link to ClinVar
299453320918BenignMegaloblastic_anemia
not_specified
0.462530.54133HET Link to ClinVar
299462309928BenignMegaloblastic_anemia0.20030.23043HET Link to ClinVar
299479309938BenignMegaloblastic_anemia
not_provided
0.772890.61342HET Link to ClinVar
299480314919BenignMegaloblastic_anemia
not_provided
0.773210.61382HET Link to ClinVar
439576433468BenignMegaloblastic_anemia_due_to_inborn_errors_of_metabolism.0.91454HOM Link to ClinVar
299498320977BenignMegaloblastic_anemia0.856790.91114HOM Link to ClinVar
299499320980Benign/Likely_benignMegaloblastic_anemia
Megaloblastic_anemia_due_to_inborn_errors_of_metabolism
0.024910.02995HET Link to ClinVar
299527321564BenignMegaloblastic_anemia.0.53434HET Link to ClinVar
299533309965BenignMegaloblastic_anemia
not_provided
0.210050.21486HET Link to ClinVar
299538321032BenignMegaloblastic_anemia
Megaloblastic_anemia_due_to_inborn_errors_of_metabolism
0.727830.79932HOM Link to ClinVar
768350701276Benignnot_provided..HOM Link to ClinVar
674367664690Benignnot_provided..HET Link to ClinVar
368897353126Likely_benignBrugada_syndrome.0.42812HET Link to ClinVar
671828664956Benignnot_provided..HET Link to ClinVar
263262253715BenignBrugada_syndrome_4
not_specified
.0.22983HET Link to ClinVar
673267664093Benignnot_provided..HOM Link to ClinVar
671830664098Benignnot_provided..HOM Link to ClinVar
683287664673Benignnot_provided..HET Link to ClinVar
683298664710Benignnot_provided..HET Link to ClinVar
683299664712Benignnot_provided..HET Link to ClinVar
136649140352Benign/Likely_benignBrugada_syndrome
not_specified
Cardiovascular_phenotype
not_provided
.0.09704HET Link to ClinVar
215549212763Benign/Likely_benignBrugada_syndrome
Brugada_syndrome_4
not_specified
0.788140.77436HOM Link to ClinVar
299576321622Likely_benignBrugada_syndrome..HET Link to ClinVar
299584321638Likely_benignBrugada_syndrome..HET Link to ClinVar
299611310034Likely_benignBrugada_syndrome..HOM Link to ClinVar
299616321665Likely_benignBrugada_syndrome.0.0597HET Link to ClinVar
299618321097Likely_benignBrugada_syndrome.0.40555HET Link to ClinVar
299620321105Likely_benignBrugada_syndrome.0.76018HOM Link to ClinVar
769362701281Benignnot_provided..HET Link to ClinVar
678109664682Benignnot_provided..HOM Link to ClinVar
671440664714Benignnot_provided..HET Link to ClinVar
683677664122Likely_benignnot_provided..HET Link to ClinVar
672914664689Benignnot_provided..HET Link to ClinVar
683676664693Benignnot_provided..HET Link to ClinVar
683673664993Benignnot_provided..HET Link to ClinVar
671174664700Benignnot_provided..HOM Link to ClinVar
672883664995Benignnot_provided..HOM Link to ClinVar
671324664718Benignnot_provided..HET Link to ClinVar
673849665002Benignnot_provided..HET Link to ClinVar
671172665003Benignnot_provided..HOM Link to ClinVar
4548454650Benignnot_specified0.389310.46905HOM Link to ClinVar
671323665022Benignnot_provided..HET Link to ClinVar
4547554641Benignnot_specified
Cardiovascular_phenotype
.0.03854HET Link to ClinVar
4547254638Benignnot_specified
Cardiovascular_phenotype
0.065040.03874HET Link to ClinVar
4547154637Benignnot_specified
Cardiovascular_phenotype
.0.95248HOM Link to ClinVar
683662664726Benignnot_provided..HOM Link to ClinVar
678539664732Benignnot_provided..HET Link to ClinVar
669638664737Benignnot_provided..HET Link to ClinVar
683671665031Benignnot_provided..HET Link to ClinVar
672881664151Benignnot_provided..HOM Link to ClinVar
671153665050Benignnot_provided..HET Link to ClinVar
4549554661BenignPrimary_dilated_cardiomyopathy
Cardiomyopathy
not_specified
..HET Link to ClinVar
678610665054Benignnot_provided..HET Link to ClinVar
672880664156Benignnot_provided..HET Link to ClinVar
683660664747Benignnot_provided..HET Link to ClinVar
672879664159Benignnot_provided..HOM Link to ClinVar
683670665064Benignnot_provided..HET Link to ClinVar
683669664752Benignnot_provided..HET Link to ClinVar
674346665068Benignnot_provided..HET Link to ClinVar
164775174922not_providednot_specified..HET Link to ClinVar
444138437762BenignDiabetes_mellitus_type_2.0.45028HOM Link to ClinVar
444143437764BenignDiabetes_mellitus_type_2.0.21146HET Link to ClinVar
130055135501BenignPermanent_neonatal_diabetes_mellitus
not_specified
.0.6244HOM Link to ClinVar
299628321688BenignPermanent_neonatal_diabetes_mellitus0.127660.21286HET Link to ClinVar
444145437766BenignDiabetes_mellitus_type_2.0.69469HOM Link to ClinVar
444144437768BenignDiabetes_mellitus_type_2.0.71825HET Link to ClinVar
444141437769BenignDiabetes_mellitus_type_2.0.1875HET Link to ClinVar
682722664166Likely_benignnot_provided..HET Link to ClinVar
4579154956Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.056970.07408HET Link to ClinVar
164604174648Benignnot_specified..HET Link to ClinVar
4581754982Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
.0.09145HET Link to ClinVar
4582354988Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.484970.39357HET Link to ClinVar
4579254957Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.678590.66274HOM Link to ClinVar
260810253719Benignnot_specified... Link to ClinVar
4579854963Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.484390.39637HET Link to ClinVar
4580154966Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.088350.05731HET Link to ClinVar
4580454969Benign/Likely_benignDeafness,_autosomal_recessive_30
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.50640.45527HET Link to ClinVar
4580754972Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.097080.08766HET Link to ClinVar
4581154976Benign/Likely_benignDeafness,_autosomal_recessive_30
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.598680.60104HET Link to ClinVar
260811253720Benignnot_specified0.087450.05751HET Link to ClinVar
669538664761Benignnot_provided..HET Link to ClinVar
669539665072Benignnot_provided..HET Link to ClinVar
671582664177Benignnot_provided..HET Link to ClinVar
683440665074Benignnot_provided..HET Link to ClinVar
671583664184Benignnot_provided..HET Link to ClinVar
671584665086Benignnot_provided..HET Link to ClinVar
683442664770Benignnot_provided..HET Link to ClinVar
671585664187Benignnot_provided..HET Link to ClinVar
683449664203Benignnot_provided..HET Link to ClinVar
683450665099Benignnot_provided..HET Link to ClinVar
299704315186Likely_benignCoenzyme_Q10_deficiency,_primary.0.08986HET Link to ClinVar
260461253730Benignnot_specified0.840810.86522HOM Link to ClinVar
260472253739Benign/Likely_benignThrombocytopenia
not_specified
0.897740.94469HOM Link to ClinVar
299785315284Likely_benignThrombocytopenia.0.39717HOM Link to ClinVar
262111253744Benign/Likely_benignThrombocytopenia
not_specified
.0.85523HOM Link to ClinVar
262126253749Benign/Likely_benignThrombocytopenia
not_specified
0.59240.50479HOM Link to ClinVar
262127253750Benignnot_specified0.997910.99101HOM Link to ClinVar
262115253752Benign/Likely_benignThrombocytopenia
not_specified
0.591080.50459HOM Link to ClinVar
262122253758Benign/Likely_benignThrombocytopenia
not_specified
0.59710.51098HOM Link to ClinVar
262110253759Benign/Likely_benignThrombocytopenia
not_specified
0.558780.39996HOM Link to ClinVar
299806310197Likely_benignThrombocytopenia.0.50958HOM Link to ClinVar
668606665104Benignnot_provided..HOM Link to ClinVar
684031664789Benignnot_provided..HOM Link to ClinVar
299879315390BenignWarburg_micro_syndrome0.765050.73622HOM Link to ClinVar
260994253760Benignnot_specified0.536350.53315HET Link to ClinVar
718255723906Benignnot_provided..HET Link to ClinVar
671782664228Benignnot_provided..HET Link to ClinVar
684083664771Benignnot_provided..HET Link to ClinVar
683223664796Benignnot_provided..HOM Link to ClinVar
138281141984BenignAtaxia,_spastic,_4,_autosomal_recessive
not_specified
0.260180.22564HET Link to ClinVar
129624135070BenignAtaxia,_spastic,_4,_autosomal_recessive
not_specified
not_provided
0.249990.21845HET Link to ClinVar
683222664243Benignnot_provided..HOM Link to ClinVar
684266664245Benignnot_provided..HET Link to ClinVar
771884701339Benignnot_provided..HET Link to ClinVar
368898353127BenignPheochromocytoma
Multiple_endocrine_neoplasia
Renal_hypodysplasia/aplasia_1
Hirschsprung_Disease,_Dominant
.0.73682HET Link to ClinVar
378478371670Benignnot_specified.0.74521HET Link to ClinVar
1395228991Benign,_risk_factorHirschsprung_disease
Hirschsprung_disease_1
not_specified
not_provided
.0.75739HET Link to ClinVar
695195685271Benignnot_provided..HET Link to ClinVar
677050664781Benignnot_provided..HET Link to ClinVar
167589174942Benignnot_specified
not_provided
0.736530.75359HET Link to ClinVar
677051664254Benignnot_provided..HET Link to ClinVar
95995101890BenignPheochromocytoma
Multiple_endocrine_neoplasia
Hereditary_cancer-predisposing_syndrome
Renal_hypodysplasia/aplasia_1
not_specified
Hirschsprung_Disease,_Dominant
not_provided
0.706070.77516HET Link to ClinVar
677053665137Benignnot_provided..HET Link to ClinVar
261396253767Benignnot_specified0.214450.12061HET Link to ClinVar
167590175112Benignnot_specified
not_provided
0.741910.71246HET Link to ClinVar
165056174666Benignnot_specified0.80310.75499HET Link to ClinVar
299934315412BenignPheochromocytoma
Multiple_endocrine_neoplasia
Renal_hypodysplasia/aplasia_1
Hirschsprung_Disease,_Dominant
.0.7472HET Link to ClinVar
768356701353Benignnot_provided..HET Link to ClinVar
768357701352Benignnot_provided..HET Link to ClinVar
768359701350Benignnot_provided..HET Link to ClinVar
768360701349Benignnot_provided..HET Link to ClinVar
768361701348Benignnot_provided..HET Link to ClinVar
768362701347Benignnot_provided..HET Link to ClinVar
674697664801Benignnot_provided..HOM Link to ClinVar
300029322302Uncertain_significanceMacular_degeneration
Cockayne_syndrome
Cerebrooculofacioskeletal_Syndrome
..HET Link to ClinVar
129020134466BenignMacular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome
0.217840.17891HOM Link to ClinVar
129017134463BenignMacular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome
0.220330.1847HOM Link to ClinVar
129016134462BenignMacular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome
0.218560.18251HOM Link to ClinVar
255163253773Benignnot_specified0.907110.88758HOM Link to ClinVar
190153188007BenignMacular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome
.0.877HOM Link to ClinVar
788361712389Benignnot_provided..HET Link to ClinVar
129014134460BenignMacular_degeneration
Cockayne_syndrome
not_specified
Cerebrooculofacioskeletal_Syndrome
0.694640.59086HOM Link to ClinVar
802572790963BenignFamilial_infantile_myasthenia..HOM Link to ClinVar
261325253774Benignnot_specified0.744570.4409HOM Link to ClinVar
193433190597Benignnot_specified
not_provided
0.992180.97185HOM Link to ClinVar
261337253779Benign/Likely_benignnot_specified
not_provided
0.986090.96625HOM Link to ClinVar
668072664295Benignnot_provided..HOM Link to ClinVar
678934664296Benignnot_provided..HOM Link to ClinVar
199157196316BenignFamilial_infantile_myasthenia
not_specified
0.989620.96645HOM Link to ClinVar
678351665158Benignnot_provided..HET Link to ClinVar
678352664303Benignnot_provided..HOM Link to ClinVar
668073664848Benignnot_provided..HOM Link to ClinVar
681297665163Benignnot_provided..HET Link to ClinVar
668074664855Benignnot_provided..HOM Link to ClinVar
128719134168Benignnot_specified
not_provided
.0.79353HET Link to ClinVar
678355664304Benignnot_provided..HET Link to ClinVar
679123664859Benignnot_provided..HET Link to ClinVar
680099664865Benignnot_provided..HET Link to ClinVar
220801221980BenignAortic_aneurysm,_familial_thoracic_8
not_specified
Cardiovascular_phenotype
0.016810.00859HET Link to ClinVar
674711664809Benignnot_provided..HOM Link to ClinVar
674712664811Benignnot_provided..HOM Link to ClinVar
683715664314Benignnot_provided..HOM Link to ClinVar
683717664335Benignnot_provided..HOM Link to ClinVar
683720664339Benignnot_provided..HOM Link to ClinVar
381195371297Benignnot_specified0.348250.26917HOM Link to ClinVar
674738664341Benignnot_provided..HOM Link to ClinVar
683740664882Benignnot_provided..HOM Link to ClinVar
678086664356Benignnot_provided..HOM Link to ClinVar
677989664367Benignnot_provided..HOM Link to ClinVar
674715664840Benignnot_provided..HOM Link to ClinVar
683723664849Benignnot_provided..HOM Link to ClinVar
674728664852Benignnot_provided..HOM Link to ClinVar
300109321599Likely_benignMannose-binding_protein_deficiency.0.33886HET Link to ClinVar
300110321600Likely_benignMannose-binding_protein_deficiency.0.33906HET Link to ClinVar
300113315587Likely_benignMannose-binding_protein_deficiency.0.33866HET Link to ClinVar
300114321603Likely_benignMannose-binding_protein_deficiency.0.27316HET Link to ClinVar
300124322359Likely_benignMannose-binding_protein_deficiency.0.45188HET Link to ClinVar
300131322365Likely_benignMannose-binding_protein_deficiency.0.27696HET Link to ClinVar
300148315631Benign/Likely_benignMannose-binding_protein_deficiency
not_specified
0.804140.73882HOM Link to ClinVar
368900353129Likely_benignMannose-binding_protein_deficiency.0.28335HET Link to ClinVar
227837229796Conflicting_interpretations_of_pathogenicitynot_specified
not_provided
0.00070.0006HET Link to ClinVar
4403553203Benignnot_specified0.248870.29812HET Link to ClinVar
670409664381Benignnot_provided..HET Link to ClinVar
678866665210Benignnot_provided..HOM Link to ClinVar
670408664861Benignnot_provided..HET Link to ClinVar
670392664897Benignnot_provided..HET Link to ClinVar
678867664864Benignnot_provided..HET Link to ClinVar
4647655641Benignnot_specified0.433090.4403HET Link to ClinVar
678862664904Benignnot_provided..HOM Link to ClinVar
4646855633Benignnot_specified
not_provided
..HET Link to ClinVar
678863664916Benignnot_provided..HOM Link to ClinVar
674390664867Benignnot_provided..HOM Link to ClinVar
674389664869Benignnot_provided..HOM Link to ClinVar
678861664920Benignnot_provided..HOM Link to ClinVar
678860664872Benignnot_provided..HOM Link to ClinVar
667956664925Benignnot_provided..HET Link to ClinVar
262149253789Benignnot_specified
not_provided
0.736260.73403HOM Link to ClinVar
678859664874Benignnot_provided..HOM Link to ClinVar
678857664876Benignnot_provided..HOM Link to ClinVar
678856664926Benignnot_provided..HET Link to ClinVar
4645655621Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.256230.3153HET Link to ClinVar
678855664397Benignnot_provided..HET Link to ClinVar
262147253791Benignnot_specified
not_provided
0.636730.46026HET Link to ClinVar
678854664895Benignnot_provided..HET Link to ClinVar
678853665213Benignnot_provided..HET Link to ClinVar
678849664944Benignnot_provided..HOM Link to ClinVar
262145253792Benignnot_specified
not_provided
.0.60803HOM Link to ClinVar
670389665224Benignnot_provided..HET Link to ClinVar
670388664906Benignnot_provided..HOM Link to ClinVar
667953664917Benignnot_provided..HOM Link to ClinVar
678842664922Benignnot_provided..HOM Link to ClinVar
670387665225Benignnot_provided..HOM Link to ClinVar
675473664945Benignnot_provided..HET Link to ClinVar
673903664924Benignnot_provided..HET Link to ClinVar
4651155676Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.660440.60383HET Link to ClinVar
667936664931Benignnot_provided..HET Link to ClinVar
678845664935Benignnot_provided..HET Link to ClinVar
678844664954Benignnot_provided..HET Link to ClinVar
678843664937Benignnot_provided..HET Link to ClinVar
667935664958Benignnot_provided..HET Link to ClinVar
667934665228Benignnot_provided..HOM Link to ClinVar
684177656003Benignnot_provided..HET Link to ClinVar
684179664961Benignnot_provided..HET Link to ClinVar
684187664966Benignnot_provided..HET Link to ClinVar
684189664420Benignnot_provided..HET Link to ClinVar
773235701383Likely_benignnot_provided..HET Link to ClinVar
802577790968BenignMental_retardation,_autosomal_recessive_37..HET Link to ClinVar
128362133811Likely_benignnot_specified0.159610.15156HET Link to ClinVar
285766270003Benignnot_specified
not_provided
0.995290.98602HOM Link to ClinVar
680031664947Benignnot_provided..HOM Link to ClinVar
670506664430Benignnot_provided..HOM Link to ClinVar
460222460152Benignnot_provided..HOM Link to ClinVar
240864240825BenignArrhythmogenic_right_ventricular_dysplasia,_familial,_130.011830.00499HET Link to ClinVar
516742502840Benignnot_specified0.381080.52995HET Link to ClinVar
673049664442Benignnot_provided..HOM Link to ClinVar
683653664998Benignnot_provided..HOM Link to ClinVar
678619664977Benignnot_provided..HET Link to ClinVar
683654665257Benignnot_provided..HOM Link to ClinVar
683655664986Benignnot_provided..HOM Link to ClinVar
671143664988Benignnot_provided..HOM Link to ClinVar
678537664456Benignnot_provided..HOM Link to ClinVar
672832665259Benignnot_provided..HOM Link to ClinVar
3179540455Benignnot_specified
Cardiovascular_phenotype
not_provided
0.622670.48263HOM Link to ClinVar
3180340463Benignnot_specified
Cardiovascular_phenotype
not_provided
0.156490.11661HOM Link to ClinVar
3179640456Benignnot_specified
Cardiovascular_phenotype
not_provided
0.180910.15775HOM Link to ClinVar
683656665007Benignnot_provided..HOM Link to ClinVar
138419142122BenignDilated_cardiomyopathy_1KK
not_specified
0.993850.98243HOM Link to ClinVar
669866665028Benignnot_provided..HOM Link to ClinVar
3179940459Benignnot_specified
not_provided
0.995580.98463HOM Link to ClinVar
673051665035Benignnot_provided..HOM Link to ClinVar
672838665042Benignnot_provided..HOM Link to ClinVar
672839665270Benignnot_provided..HOM Link to ClinVar
671506665278Benignnot_provided..HOM Link to ClinVar
672869664468Benignnot_provided..HOM Link to ClinVar
671147664470Benignnot_provided..HOM Link to ClinVar
668993665288Benignnot_provided..HOM Link to ClinVar
671150664481Benignnot_provided..HOM Link to ClinVar
668995665046Benignnot_provided..HOM Link to ClinVar
672871665047Benignnot_provided..HOM Link to ClinVar
671151665052Benignnot_provided..HOM Link to ClinVar
678015664490Benignnot_provided..HOM Link to ClinVar
668996665049Benignnot_provided..HOM Link to ClinVar
683658665067Benignnot_provided..HOM Link to ClinVar
672875665306Benignnot_provided..HOM Link to ClinVar
672876665070Benignnot_provided..HOM Link to ClinVar
672877664500Benignnot_provided..HOM Link to ClinVar
671152665056Benignnot_provided..HOM Link to ClinVar
669011665059Benignnot_provided..HOM Link to ClinVar
669884665310Benignnot_provided..HOM Link to ClinVar
672878665315Benignnot_provided..HOM Link to ClinVar
669725665088Benignnot_provided..HOM Link to ClinVar
257342253799Benignnot_specified
not_provided
0.04240.02117HOM Link to ClinVar
669723665323Benignnot_provided..HOM Link to ClinVar
669720665093Benignnot_provided..HOM Link to ClinVar
669719665100Benignnot_provided..HOM Link to ClinVar
669716665089Benignnot_provided..HOM Link to ClinVar
683742665094Benignnot_provided..HOM Link to ClinVar
669713665103Benignnot_provided..HOM Link to ClinVar
257346253801Benignnot_specified
not_provided
0.286750.36641HET Link to ClinVar
257345253802Benignnot_specified
not_provided
0.131140.13918HET Link to ClinVar
669881665108Benignnot_provided..HET Link to ClinVar
669863664520Benignnot_provided..HET Link to ClinVar
676250665107Benignnot_provided..HET Link to ClinVar
171916758risk_factorPreeclampsia/eclampsia_40.623140.61242HET Link to ClinVar
172016759Conflicting_interpretations_of_pathogenicityPreeclampsia/eclampsia_40.212210.14417HET Link to ClinVar
682816665132Benignnot_provided..HET Link to ClinVar
671932664521Benignnot_provided..HOM Link to ClinVar
682818665114Benignnot_provided..HOM Link to ClinVar
439787433604Benignnot_specified0.323760.28335HET Link to ClinVar
255483253803Benignnot_specified0.783160.77875HOM Link to ClinVar
129765135211Benignnot_specified0.585980.42991HOM Link to ClinVar
95882101779BenignHoloprosencephaly_sequence
Heterotaxia
Visceral_heterotaxy_5,_autosomal
not_specified
not_provided
0.617150.66574HET Link to ClinVar
300324315856BenignFamilial_hemophagocytic_lymphohistiocytosis.0.57788HET Link to ClinVar
300325310615Likely_benignFamilial_hemophagocytic_lymphohistiocytosis.0.09744HET Link to ClinVar
257409253807BenignFamilial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_2
not_specified
0.635650.69589HOM Link to ClinVar
257408253808Benign/Likely_benignFamilial_hemophagocytic_lymphohistiocytosis
not_specified
0.158210.11262HET Link to ClinVar
691402679096Uncertain_significanceHirschsprung_disease..HET Link to ClinVar
300345322610BenignBH4-Deficient_Hyperphenylalaninemia0.776820.76538HOM Link to ClinVar
300350322615Likely_benignBH4-Deficient_Hyperphenylalaninemia10.124HET Link to ClinVar
300354322628BenignBH4-Deficient_Hyperphenylalaninemia.0.38099HET Link to ClinVar
130342135789BenignHistiocytosis-lymphadenopathy_plus_syndrome
not_specified
0.424660.46925HET Link to ClinVar
130340135787BenignHistiocytosis-lymphadenopathy_plus_syndrome
not_specified
0.867380.8143HOM Link to ClinVar
130341135788Benign,_drug_responseHistiocytosis-lymphadenopathy_plus_syndrome
not_specified
Gemcitabine_response
0.638430.47983HOM Link to ClinVar
300363321945Conflicting_interpretations_of_pathogenicityHistiocytosis-lymphadenopathy_plus_syndrome
not_provided
..HOM Link to ClinVar
130347135794BenignHistiocytosis-lymphadenopathy_plus_syndrome
not_specified
0.824620.79273HOM Link to ClinVar
130337135784BenignHistiocytosis-lymphadenopathy_plus_syndrome
not_specified
0.830180.75379HOM Link to ClinVar
300394322651Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa-deafness_syndrome
not_specified
CDH23-Related_Disorders
Nonsyndromic_Hearing_Loss,_Recessive
..HOM Link to ClinVar
680498665120Benignnot_provided..HOM Link to ClinVar
670320664523Benignnot_provided..HOM Link to ClinVar
678763665125Benignnot_provided..HOM Link to ClinVar
678765665126Benignnot_provided..HOM Link to ClinVar
4592855093Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.672070.73463HOM Link to ClinVar
4594055105Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.66910.72524HOM Link to ClinVar
261548253816Benignnot_specified
not_provided
.0.73123HOM Link to ClinVar
680499665128Benignnot_provided..HET Link to ClinVar
670322665343Benignnot_provided..HET Link to ClinVar
4587255037Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.19980.1853HOM Link to ClinVar
680500664529Benignnot_provided..HOM Link to ClinVar
678767665130Benignnot_provided..HOM Link to ClinVar
678768665143Benignnot_provided..HOM Link to ClinVar
261543253817Benignnot_specified
not_provided
0.96240.91514HOM Link to ClinVar
678782665371Benignnot_provided..HET Link to ClinVar
678769665145Benignnot_provided..HOM Link to ClinVar
678770665150Benignnot_provided..HOM Link to ClinVar
760950775660Benignnot_provided..HOM Link to ClinVar
760964775543Benignnot_provided..HOM Link to ClinVar
678771665140Benignnot_provided..HOM Link to ClinVar
678772665141Benignnot_provided..HOM Link to ClinVar
4593755102Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.815930.78215HET Link to ClinVar
670326665149Benignnot_provided..HET Link to ClinVar
678773665156Benignnot_provided..HET Link to ClinVar
670327665376Benignnot_provided..HET Link to ClinVar
680505664534Benignnot_provided..HET Link to ClinVar
680506665167Benignnot_provided..HET Link to ClinVar
678783665151Benignnot_provided..HET Link to ClinVar
678784664538Benignnot_provided..HET Link to ClinVar
4595555120Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.775250.72883HET Link to ClinVar
802586790978BenignRetinitis_pigmentosa-deafness_syndrome..HOM Link to ClinVar
802587790979BenignRetinitis_pigmentosa-deafness_syndrome..HET Link to ClinVar
4596055125Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
not_provided
0.178890.13219HET Link to ClinVar
680507665195Benignnot_provided..HOM Link to ClinVar
4599755162Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.429140.34525HET Link to ClinVar
4605855223Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.114140.08087HET Link to ClinVar
4607155236Benign/Likely_benignGalactosylceramide_beta-galactosidase_deficiency
Metachromatic_leukodystrophy
Combined_saposin_deficiency
Retinitis_pigmentosa-deafness_syndrome
not_specified
Atypical_Gaucher_Disease
Nonsyndromic_Hearing_Loss,_Recessive
0.150870.07887HET Link to ClinVar
300489316044Benign/Likely_benignGalactosylceramide_beta-galactosidase_deficiency
Metachromatic_leukodystrophy
Combined_saposin_deficiency
Retinitis_pigmentosa-deafness_syndrome
Atypical_Gaucher_Disease
Nonsyndromic_Hearing_Loss,_Recessive
.0.78934HET Link to ClinVar
680724665157Benignnot_provided..HET Link to ClinVar
680723665390Benignnot_provided..HET Link to ClinVar
680721665400Benignnot_provided..HET Link to ClinVar
680720665160Benignnot_provided..HET Link to ClinVar
680719665405Benignnot_provided..HET Link to ClinVar
300548322169BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.5613HOM Link to ClinVar
300581310830BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
not_provided
.0.60963HET Link to ClinVar
300605322808BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.20208HET Link to ClinVar
300620322831BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.57648HET Link to ClinVar
300622322239Likely_benignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.08826HET Link to ClinVar
300630310887BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.57548HET Link to ClinVar
300632310890BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.59165HET Link to ClinVar
300641322245BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.24062HET Link to ClinVar
300660322890BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.61002HET Link to ClinVar
300661316200BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.24022HET Link to ClinVar
300670322267BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.24022HET Link to ClinVar
300671322892BenignSkeletal_dysplasia
Spondyloepiphyseal_dysplasia
Larsen_syndrome
Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations
.0.59165HET Link to ClinVar
667500665202Benignnot_provided..HOM Link to ClinVar
667499665416Benignnot_provided..HOM Link to ClinVar
559182549971Benignnot_provided0.579810.29792HOM Link to ClinVar
667496665220Benignnot_provided..HOM Link to ClinVar
667495665221Benignnot_provided..HOM Link to ClinVar
300752322380BenignQuebec_platelet_disorder0.456470.36102HET Link to ClinVar
300765322983BenignQuebec_platelet_disorder.0.37161HET Link to ClinVar
300776316340BenignQuebec_platelet_disorder.0.36661HET Link to ClinVar
684057664574Benignnot_provided..HOM Link to ClinVar
671287664587Benignnot_provided..HET Link to ClinVar
669418665185Benignnot_provided..HET Link to ClinVar
498457489881Benignnot_specified
not_provided
.0.78075HET Link to ClinVar
678044664592Benignnot_provided..HET Link to ClinVar
678031664605Benignnot_provided..HET Link to ClinVar
671231665436Benignnot_provided..HET Link to ClinVar
4559554761Benign/Likely_benignHirschsprung_disease
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
0.476120.32468HET Link to ClinVar
672696664611Benignnot_provided..HET Link to ClinVar
672697665218Benignnot_provided..HET Link to ClinVar
4560054766Benign/Likely_benignDilated_cardiomyopathy_1W
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
0.673390.623HET Link to ClinVar
672698665241Benignnot_provided..HET Link to ClinVar
300808316355Likely_benignDilated_Cardiomyopathy,_Dominant..HET Link to ClinVar
300815323069Likely_benignDilated_Cardiomyopathy,_Dominant.0.6254HET Link to ClinVar
300835311044BenignHypermethioninemia0.681220.63019HET Link to ClinVar
802588790980BenignHypermethioninemia_due_to_adenosine_kinase_deficiency..HET Link to ClinVar
300847316390BenignHypermethioninemia.0.85004HET Link to ClinVar
561579552622Benignnot_provided.0.44649HET Link to ClinVar
561577552623Benignnot_provided0.274220.47384HET Link to ClinVar
561580552624Benignnot_provided.0.1272HET Link to ClinVar
561581552625Benignnot_provided.0.1885HET Link to ClinVar
561578552626Benignnot_provided.0.47404HET Link to ClinVar
300927322540Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia.0.71466HOM Link to ClinVar
300933316458Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia.0.38059HET Link to ClinVar
129328134774Benign/Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia
not_specified
not_provided
0.360480.40595HET Link to ClinVar
786826712480Benignnot_provided..HET Link to ClinVar
227069229922Benign/Likely_benignnot_specified
not_provided
0.286650.34884HOM Link to ClinVar
165197175023Benignnot_specified0.200020.22085HET Link to ClinVar
165215175027Benignnot_specified0.66350.77037HET Link to ClinVar
165218175307Benignnot_specified0.045390.02436HET Link to ClinVar
165219175029Benignnot_specified0.470040.50459HET Link to ClinVar
301153322697BenignHepatic_methionine_adenosyltransferase_deficiency..HET Link to ClinVar
301159316692Likely_benignHepatic_methionine_adenosyltransferase_deficiency.0.02895HET Link to ClinVar
301165316710BenignHepatic_methionine_adenosyltransferase_deficiency.0.12001HET Link to ClinVar
256104253866BenignHepatic_methionine_adenosyltransferase_deficiency
not_specified
0.512360.58686HOM Link to ClinVar
256103253867BenignHepatic_methionine_adenosyltransferase_deficiency
not_specified
0.512530.58806HOM Link to ClinVar
256107253869BenignHepatic_methionine_adenosyltransferase_deficiency
not_specified
0.744120.84046HOM Link to ClinVar
256106253870BenignHepatic_methionine_adenosyltransferase_deficiency
not_specified
0.750440.84086HOM Link to ClinVar
256105253871BenignHepatic_methionine_adenosyltransferase_deficiency
not_specified
0.75430.86342HOM Link to ClinVar
256108253872BenignHepatic_methionine_adenosyltransferase_deficiency
not_specified
0.14670.1909HOM Link to ClinVar
301199311293BenignHepatic_methionine_adenosyltransferase_deficiency... Link to ClinVar
691406679097Uncertain_significanceHirschsprung_disease..HET Link to ClinVar
691408679099Uncertain_significanceHirschsprung_disease..HET Link to ClinVar
262215253878Benignnot_specified
Cone-Rod_Dystrophy,_Recessive
not_provided
0.494720.51597HET Link to ClinVar
262210253884Benignnot_specified
Cone-Rod_Dystrophy,_Recessive
not_provided
0.355730.42911HOM Link to ClinVar
194794191957Benignnot_specified
Cone-Rod_Dystrophy,_Recessive
not_provided
.0.57368HOM Link to ClinVar
194795191958Benignnot_specified
Cone-Rod_Dystrophy,_Recessive
0.586710.6274HOM Link to ClinVar
301278316942BenignCone-Rod_Dystrophy,_Recessive.0.57169HOM Link to ClinVar
301281316962Likely_benignCone-Rod_Dystrophy,_Recessive.0.09804HET Link to ClinVar
301312311434BenignCone-Rod_Dystrophy,_Recessive.0.55651HOM Link to ClinVar
301314323570BenignCone-Rod_Dystrophy,_Recessive.0.25659HOM Link to ClinVar
285754269991Benignnot_specified
Retinitis_Pigmentosa,_Recessive
0.531180.63359HET Link to ClinVar
197174194335Benignnot_specified
Retinitis_Pigmentosa,_Recessive
.0.50319HET Link to ClinVar
301324323008Likely_benignRetinitis_Pigmentosa,_Recessive.0.11601HET Link to ClinVar
301327317026Likely_benignRetinitis_Pigmentosa,_Recessive.0.11621HET Link to ClinVar
683005664616Benignnot_provided..HOM Link to ClinVar
671123664626Benignnot_provided..HOM Link to ClinVar
138106141809Benign/Likely_benignLeft_ventricular_noncompaction_cardiomyopathy
Myofibrillar_myopathy,_ZASP-related
not_specified
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
.0.7522HOM Link to ClinVar
672518665227Benignnot_provided..HOM Link to ClinVar
672014665235Benignnot_provided..HOM Link to ClinVar
257337253888Benignnot_specified
not_provided
0.687510.6242HOM Link to ClinVar
683610664648Benignnot_provided..HOM Link to ClinVar
672033665240Benignnot_provided..HOM Link to ClinVar
4388153050Likely_benignnot_specified..HOM Link to ClinVar
301347323644BenignJuvenile_Polyposis.0.34824HET Link to ClinVar
4178250221BenignHereditary_cancer-predisposing_syndrome
not_specified
Juvenile_Polyposis
not_provided
0.355820.4998HET Link to ClinVar
259286253896BenignHereditary_cancer-predisposing_syndrome
not_specified
Juvenile_Polyposis
0.353760.49661HET Link to ClinVar
435339429134Likely_benignnot_specified..HET Link to ClinVar
129164134610Benign/Likely_benignHyperinsulinism-hyperammonemia_syndrome
not_specified
Hyperinsulinism,_Dominant
0.122060.16773HET Link to ClinVar
810888799618Benignnot_specified..HET Link to ClinVar
440217433880Benignnot_specified.1HOM Link to ClinVar
440219433072Benignnot_specified.0.41793HET Link to ClinVar
9281098717BenignPTEN_hamartoma_tumor_syndrome
not_specified
0.369910.43251HET Link to ClinVar
301463323162BenignPTEN_hamartoma_tumor_syndrome.0.3734HET Link to ClinVar
674576665309Benignnot_provided..HET Link to ClinVar
680518665553Benignnot_provided..HET Link to ClinVar
674574665311Benignnot_provided..HET Link to ClinVar
680517665314Benignnot_provided..HET Link to ClinVar
254734253905BenignAutoimmune_lymphoproliferative_syndrome
not_specified
0.756130.77536HOM Link to ClinVar
684275665316Benignnot_provided..HOM Link to ClinVar
672000665559Benignnot_provided..HOM Link to ClinVar
255611253907Benignnot_specified
not_provided
0.399280.45427HOM Link to ClinVar
672051665317Benignnot_provided..HOM Link to ClinVar
255610253908Benignnot_specified
Wolman_disease
not_provided
.0.31889HOM Link to ClinVar
684273665329Benignnot_provided..HOM Link to ClinVar
684269665330Benignnot_provided..HOM Link to ClinVar
195049192211BenignLysosomal_acid_lipase_deficiency
not_specified
Wolman_disease
not_provided
0.316320.28614HOM Link to ClinVar
684268665561Benignnot_provided..HOM Link to ClinVar
301603323274Likely_benignDilated_Cardiomyopathy,_Dominant.0.35423HET Link to ClinVar
683101664729Benignnot_provided..HET Link to ClinVar
301613323878Benign/Likely_benignDilated_Cardiomyopathy,_Dominant
not_provided
.0.66234HET Link to ClinVar
259411253910Benignnot_specified0.06330.15495HET Link to ClinVar
259408253911Benignnot_specified0.085080.17812HET Link to ClinVar
211273207803Benignnot_specified
not_provided
0.004660.0024HET Link to ClinVar
778469701479Benignnot_provided..HET Link to ClinVar
95346101245Benign/Likely_benignAchromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive
.0.16434HET Link to ClinVar
259938253917BenignAchromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive
0.349620.39577HET Link to ClinVar
259939253918Benignnot_specified0.351570.39617HET Link to ClinVar
259940253920BenignAchromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive
0.739670.72883HET Link to ClinVar
259942253921Benign/Likely_benignAchromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive
.0.23522HET Link to ClinVar
259943253922BenignAchromatopsia
not_specified
Cone-Rod_Dystrophy,_Recessive
0.460450.41334HET Link to ClinVar
683030665569Benignnot_provided..HOM Link to ClinVar
684055665347Benignnot_provided..HOM Link to ClinVar
683031665570Benignnot_provided..HOM Link to ClinVar
301662311731Likely_benignFamilial_temporal_lobe_epilepsy_1.0.00519HET Link to ClinVar
301666323939BenignNephrotic_syndrome.0.55252HET Link to ClinVar
301676323351BenignNephrotic_syndrome.0.36701HET Link to ClinVar
260733253928BenignNephrotic_syndrome
Nephrotic_syndrome,_type_3
not_specified
not_provided
0.31970.46046HET Link to ClinVar
260734253929BenignNephrotic_syndrome
Nephrotic_syndrome,_type_3
not_specified
not_provided
0.286040.3782HET Link to ClinVar
260712253931BenignNephrotic_syndrome
Nephrotic_syndrome,_type_3
not_specified
not_provided
.0.20108HET Link to ClinVar
260722253940BenignNephrotic_syndrome
Nephrotic_syndrome,_type_3
not_specified
0.343130.23023HET Link to ClinVar
260729253946BenignNephrotic_syndrome
not_specified
0.145550.08706HET Link to ClinVar
225947227769drug_responsewarfarin_response_-_Dosage.0.24541HET Link to ClinVar
666243622287..0.186270.22844HET Link to ClinVar
1689731936drug_responseMephenytoin,_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
0.185630.22145HET Link to ClinVar
301746324029BenignCutis_laxa,_recessive.0.20048HET Link to ClinVar
301749324059BenignCutis_laxa,_recessive.0.20008HET Link to ClinVar
301753324060BenignCutis_laxa,_recessive.0.29792HET Link to ClinVar
678446664731Benignnot_provided..HET Link to ClinVar
258825253949BenignCutis_laxa-corneal_clouding-oligophrenia_syndrome
Cutis_laxa,_recessive
not_specified
0.410830.27955HET Link to ClinVar
683044665352Benignnot_provided..HOM Link to ClinVar
678444665341Benignnot_provided..HET Link to ClinVar
683043665576Benignnot_provided..HET Link to ClinVar
683038665588Benignnot_provided..HET Link to ClinVar
678443665593Benignnot_provided..HET Link to ClinVar
683037665606Benignnot_provided..HOM Link to ClinVar
683818664744Benignnot_provided..HET Link to ClinVar
683036665355Benignnot_provided..HOM Link to ClinVar
258826253953Benignnot_specified
not_provided
0.686160.64257HOM Link to ClinVar
682757665616Benignnot_provided..HET Link to ClinVar
670229665618Benignnot_provided..HET Link to ClinVar
674960665375Benignnot_provided..HET Link to ClinVar
670228665628Benignnot_provided..HET Link to ClinVar
674959664757Benignnot_provided..HET Link to ClinVar
130577136023Benignnot_specified0.35440.42472HET Link to ClinVar
260669253956Benignnot_specified0.162910.19529HET Link to ClinVar
402427390501Benignnot_specified.0.46126HOM Link to ClinVar
204259200664Uncertain_significancePrimary_hyperoxaluria,_type_III0.083880.07268HET Link to ClinVar
301827323498BenignSpastic_paraplegia,_autosomal_dominant
not_provided
0.530420.4369HOM Link to ClinVar
130787136233Benignnot_specified
Spastic_paraplegia,_autosomal_dominant
not_provided
0.732380.69649HOM Link to ClinVar
301841317478BenignSpastic_paraplegia,_autosomal_dominant0.730460.67971HOM Link to ClinVar
301846324172BenignSpastic_paraplegia,_autosomal_dominant.0.74201HOM Link to ClinVar
301847317487BenignSpastic_paraplegia,_autosomal_dominant.0.73423HOM Link to ClinVar
301850311862BenignSpastic_paraplegia,_autosomal_dominant.0.67891HOM Link to ClinVar
298309317492Uncertain_significanceHermansky-Pudlak_syndrome..HET Link to ClinVar
298311317495BenignHermansky-Pudlak_syndrome.0.43091HET Link to ClinVar
298314323522BenignHermansky-Pudlak_syndrome.0.57228HET Link to ClinVar
298315323544BenignHermansky-Pudlak_syndrome.0.57228HET Link to ClinVar
298322311898BenignHermansky-Pudlak_syndrome.0.59045HET Link to ClinVar
298329317497BenignHermansky-Pudlak_syndrome.0.46146HET Link to ClinVar
298332311903BenignHermansky-Pudlak_syndrome.0.53894HET Link to ClinVar
298333317527BenignHermansky-Pudlak_syndrome.0.52636HET Link to ClinVar
167184175332BenignHermansky-Pudlak_syndrome
not_specified
0.269590.25759HET Link to ClinVar
255500253962Benign/Likely_benignnot_specified
not_provided
..HET Link to ClinVar
163666175056Benign/Likely_benignHermansky-Pudlak_syndrome
not_specified
0.063350.0639HET Link to ClinVar
802626791020BenignUrofacial_syndrome_1..HET Link to ClinVar
713620730720Benignnot_provided..HET Link to ClinVar
298375323571BenignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency.0.82628HET Link to ClinVar
298377311921Likely_benignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency.0.10643HET Link to ClinVar
298385317617BenignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency..HET Link to ClinVar
298387311927Likely_benignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency.0.1264HET Link to ClinVar
128836134284BenignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided
0.861010.82708HET Link to ClinVar
683434664772Benignnot_provided..HET Link to ClinVar
298432311989Likely_benignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency.0.53874HET Link to ClinVar
298434317652Likely_benignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency.0.54014HET Link to ClinVar
298437323615Benign/Likely_benignDubin-Johnson_syndrome
not_specified
0.168680.13498HET Link to ClinVar
802627791021BenignDubin-Johnson_syndrome..HOM Link to ClinVar
196101193262BenignDubin-Johnson_syndrome
not_specified
.0.28814HET Link to ClinVar
94387100287BenignRenal_coloboma_syndrome
not_specified
.0.84665HET Link to ClinVar
136593140296BenignMitochondrial_DNA_depletion_syndrome
not_specified
Autosomal_recessive_cerebellar_ataxia
Ataxia_Neuropathy_Spectrum_Disorders
Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions
.0.41214HET Link to ClinVar
683418664765Benignnot_provided..HET Link to ClinVar
298513309222BenignMitochondrial_DNA_depletion_syndrome
Autosomal_recessive_cerebellar_ataxia
Ataxia_Neuropathy_Spectrum_Disorders
Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions
.0.05751HET Link to ClinVar
4412953297Benignnot_specified
not_provided
0.812210.77296HOM Link to ClinVar
4412653294Benignnot_specified
not_provided
..HET Link to ClinVar
4412453292Benignnot_specified
not_provided
0.810870.77616HOM Link to ClinVar
683855663984Benignnot_provided..HOM Link to ClinVar
672460664489Benignnot_provided..HET Link to ClinVar
672433663986Benignnot_provided..HET Link to ClinVar
683852664493Benignnot_provided..HOM Link to ClinVar
667958664540Benignnot_provided..HET Link to ClinVar
683842663989Benignnot_provided..HET Link to ClinVar
682679663991Benignnot_provided..HET Link to ClinVar
682678664544Benignnot_provided..HET Link to ClinVar
682677664785Benignnot_provided..HET Link to ClinVar
683837664494Benignnot_provided..HET Link to ClinVar
667957664793Benignnot_provided..HET Link to ClinVar
4621155376Benignnot_specified
not_provided
0.57770.59605HET Link to ClinVar
193449190613Benign/Likely_benignSplit-hand/foot_malformation
not_specified
0.228820.09525HOM Link to ClinVar
196404193565Benignnot_specified
not_provided
0.646970.66414HOM Link to ClinVar
403232389832Benignnot_specified0.964580.92213HOM Link to ClinVar
403233389920Benignnot_specified0.99710.98682HOM Link to ClinVar
403234389836Benignnot_specified0.996770.98682HOM Link to ClinVar
677127664497Benignnot_provided..HET Link to ClinVar
260689253668Benignnot_specified
not_provided
0.485670.39617HET Link to ClinVar
677128664499Benignnot_provided..HET Link to ClinVar
677129664547Benignnot_provided..HET Link to ClinVar
677130664507Benignnot_provided..HET Link to ClinVar
677131664511Benignnot_provided..HET Link to ClinVar
677132664513Benignnot_provided..HET Link to ClinVar
677133663998Benignnot_provided..HET Link to ClinVar
260688253670Benignnot_specified
not_provided
0.662750.71965HET Link to ClinVar
298587309286Likely_benignMedulloblastoma.0.19449HET Link to ClinVar
298607319883Likely_benignMedulloblastoma.0.1234HET Link to ClinVar
137063140766Benignnot_specified
not_provided
0.223780.13878HET Link to ClinVar
761000775608Benignnot_provided..HET Link to ClinVar
298624314017BenignCongenital_adrenal_hyperplasia
not_provided
.0.41034HET Link to ClinVar
298625314018BenignCongenital_adrenal_hyperplasia
not_provided
0.424780.44249HET Link to ClinVar
298630314022BenignCongenital_adrenal_hyperplasia.0.41054HET Link to ClinVar
298645319953BenignRenal_Hypomagnesemia,_Dominant0.419920.43251HET Link to ClinVar
298651314056BenignRenal_Hypomagnesemia,_Dominant0.114580.07708HET Link to ClinVar
298665320488BenignRenal_Hypomagnesemia,_Dominant.0.26278HET Link to ClinVar
380852371502Benignnot_specified0.41710.42213HET Link to ClinVar
667762664522Benignnot_provided..HET Link to ClinVar
667744664527Benignnot_provided..HET Link to ClinVar
667742664537Benignnot_provided..HET Link to ClinVar
667740664004Benignnot_provided..HET Link to ClinVar
667734664548Benignnot_provided..HET Link to ClinVar
667739664812Benignnot_provided..HET Link to ClinVar
667737664005Benignnot_provided..HET Link to ClinVar
667735664818Benignnot_provided..HET Link to ClinVar
667538664553Benignnot_provided..HET Link to ClinVar
667537664556Benignnot_provided..HET Link to ClinVar
380851371505Benignnot_specified0.113810.07668HET Link to ClinVar
380850371524Benignnot_specified.0.81969HET Link to ClinVar
768386701154Benignnot_provided..HET Link to ClinVar
298673319982BenignEpidermolysis_bullosa,_junctional.0.1885HET Link to ClinVar
298676320507BenignEpidermolysis_bullosa,_junctional.0.24661HET Link to ClinVar
298678309383BenignEpidermolysis_bullosa,_junctional.0.22883HET Link to ClinVar
256274253672BenignEpidermolysis_bullosa,_junctional
not_specified
0.780440.69149HOM Link to ClinVar
256273253673BenignEpidermolysis_bullosa,_junctional
not_specified
0.996430.98602HOM Link to ClinVar
256272253674Benignnot_specified0.778090.68291HOM Link to ClinVar
256271253675BenignEpidermolysis_bullosa,_junctional
not_specified
.0.68151HOM Link to ClinVar
256270253676BenignEpidermolysis_bullosa,_junctional
not_specified
0.776870.68351HOM Link to ClinVar
256269253677BenignEpidermolysis_bullosa,_junctional
not_specified
0.772490.67392HOM Link to ClinVar
256268253678Benignnot_specified0.49450.4361HET Link to ClinVar
298718320575Conflicting_interpretations_of_pathogenicityEpidermolysis_bullosa,_junctional
not_provided
0.002770.0022HET Link to ClinVar
256267253679BenignEpidermolysis_bullosa,_junctional
not_specified
0.780340.69369HOM Link to ClinVar
298725320577Likely_benignEpidermolysis_bullosa,_junctional0.139020.09964HET Link to ClinVar
256266253680BenignEpidermolysis_bullosa,_junctional
not_specified
0.935660.81849HOM Link to ClinVar
256263253682BenignEpidermolysis_bullosa,_junctional
not_specified
0.647320.55252HOM Link to ClinVar
256276253683BenignEpidermolysis_bullosa,_junctional
not_specified
0.673950.5649HOM Link to ClinVar
667614664557Benignnot_provided..HOM Link to ClinVar
674950664832Benignnot_provided..HOM Link to ClinVar
670110664008Benignnot_provided..HOM Link to ClinVar
259770253686Benignnot_specified.0.14197HET Link to ClinVar
259771253687Benignnot_specified0.149440.14816HET Link to ClinVar
159992168820Benignnot_specified
Cornelia_de_Lange_Syndrome
0.148990.14816HET Link to ClinVar
259765253688Benignnot_specified0.148850.14816HET Link to ClinVar
670112664566Benignnot_provided..HET Link to ClinVar
259768253691Benignnot_specified
not_provided
0.979250.95727HOM Link to ClinVar
670113664551Benignnot_provided..HOM Link to ClinVar
670114664834Benignnot_provided..HOM Link to ClinVar
259769253692Benignnot_specified.0.14896HET Link to ClinVar
159985168840BenignHistory_of_neurodevelopmental_disorder
not_specified
Cornelia_de_Lange_Syndrome
not_provided
.0.98682HOM Link to ClinVar
674952664567Benignnot_provided..HOM Link to ClinVar
4402953197Benign/Likely_benignCardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
0.152230.22224HET Link to ClinVar
671182664564Benignnot_provided..HOM Link to ClinVar
673055664579Benignnot_provided..HET Link to ClinVar
671183664030Benignnot_provided..HET Link to ClinVar
4397553143Benign/Likely_benignnot_specified
Dilated_Cardiomyopathy,_Dominant
0.164020.16414HET Link to ClinVar
138901142604Benign/Likely_benignCardiomyopathy
Dilated_cardiomyopathy_1DD
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
.0.99101HOM Link to ClinVar
671184664589Benignnot_provided..HOM Link to ClinVar
671185664590Benignnot_provided..HOM Link to ClinVar
672036664860Benignnot_provided..HOM Link to ClinVar
672037664037Benignnot_provided..HOM Link to ClinVar
678595664594Benignnot_provided..HOM Link to ClinVar
678597664040Benignnot_provided..HOM Link to ClinVar
4401253180Benign/Likely_benignDilated_cardiomyopathy_1DD
not_specified
Dilated_Cardiomyopathy,_Dominant
0.9880.96965HOM Link to ClinVar
672038664041Benignnot_provided..HOM Link to ClinVar
4401653184Benign/Likely_benignDilated_cardiomyopathy_1DD
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
.0.69709HOM Link to ClinVar
298808320661Likely_benignDilated_Cardiomyopathy,_Dominant.0.01378HET Link to ClinVar
561542552614Benignnot_provided.0.45048HOM Link to ClinVar
561589552615Benignnot_provided.0.97145HOM Link to ClinVar
4145049888Benignnot_specified
not_provided
0.834750.84325HOM Link to ClinVar
561497552618Likely_benignnot_provided.0.01138HET Link to ClinVar
561496552619Benignnot_provided.0.39417HOM Link to ClinVar
511078502747Likely_benignnot_specified.0.45647HOM Link to ClinVar
298892320281Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia.0.32228HET Link to ClinVar
298898314323Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.623490.53455HET Link to ClinVar
298912314337Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.400360.377HET Link to ClinVar
298915309537Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia.0.3762HET Link to ClinVar
298930320351Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.348970.34764HET Link to ClinVar
760916767642Benignnot_provided..HET Link to ClinVar
1774732786Likely_benignResting_heart_rate
not_specified
0.3040.17772HET Link to ClinVar
1774632785drug_responseCongestive_heart_failure_and_beta-blocker_response,_modifier_of0.7360.70168HET Link to ClinVar
780913712183Benignnot_provided..HET Link to ClinVar
683832664599Benignnot_provided..HOM Link to ClinVar
683829664615Benignnot_provided..HOM Link to ClinVar
380007371170Benignnot_specified
not_provided
0.496330.50998HOM Link to ClinVar
683828664055Benignnot_provided..HOM Link to ClinVar
683826664888Benignnot_provided..HOM Link to ClinVar
380006371173Benignnot_specified
not_provided
0.481920.49441HOM Link to ClinVar
683825664622Benignnot_provided..HOM Link to ClinVar
683824664059Benignnot_provided..HOM Link to ClinVar
671234664065Benignnot_provided..HOM Link to ClinVar
671337664625Benignnot_provided..HET Link to ClinVar
675495664909Likely_benignnot_provided..HET Link to ClinVar
259263253698Benignnot_specified0.676740.63518HOM Link to ClinVar
4477753944BenignMyofibrillar_myopathy,_BAG3-related
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
not_provided
0.74090.70647HOM Link to ClinVar
298967320409BenignDilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
..HOM Link to ClinVar
298973309576BenignDilated_Cardiomyopathy,_Dominant
Myofibrillar_Myopathy,_Dominant
.0.15316HET Link to ClinVar
298991309584BenignCraniosynostosis
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
0.531050.41434HET Link to ClinVar
667903664070Benignnot_provided..HET Link to ClinVar
667902664912Benignnot_provided..HOM Link to ClinVar
667901664913Benignnot_provided..HET Link to ClinVar
255317253699BenignCraniosynostosis
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
0.561380.42312HET Link to ClinVar
667900664919Benignnot_provided..HET Link to ClinVar
667899664927Benignnot_provided..HOM Link to ClinVar
255319253704BenignCraniosynostosis
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
.0.79533HET Link to ClinVar
299019320469BenignCraniosynostosis
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
.0.71026HOM Link to ClinVar
299029314432Likely_benignMacular_degeneration.0.11442HET Link to ClinVar
299039309623Likely_benignMacular_degeneration.0.05192HET Link to ClinVar
299041314437Likely_benignMacular_degeneration.0.05192HET Link to ClinVar
2132534177Benign/Likely_benignMacular_degeneration
Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy
.0.04892HET Link to ClinVar
299054309634Benign/Likely_benignMacular_degeneration
not_provided
0.999840.9994HOM Link to ClinVar
299055320494Likely_benignMacular_degeneration0.611260.628HOM Link to ClinVar
768398701230Likely_benignnot_provided..HET Link to ClinVar
402577389937Benignnot_specified..HET Link to ClinVar
368893353122Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.01298HET Link to ClinVar
299060321002Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..HET Link to ClinVar
299089320535Uncertain_significanceDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..HOM Link to ClinVar
299099320547BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.44149HET Link to ClinVar
299119309669BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.89537HOM Link to ClinVar
299126321076Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.10104HET Link to ClinVar
299128321077BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.17272HET Link to ClinVar
299134314520BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.16154HET Link to ClinVar
299143321087BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.96226HOM Link to ClinVar
299152309686BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.96226HOM Link to ClinVar
299160320612BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase.0.33387HET Link to ClinVar
683257664657Benignnot_provided..HOM Link to ClinVar
16115200BenignOrnithine_aminotransferase_deficiency
not_provided
0.418030.40994HOM Link to ClinVar
683256664627Benignnot_provided..HOM Link to ClinVar
683255664933Benignnot_provided..HOM Link to ClinVar
672113664628Benignnot_provided..HOM Link to ClinVar
684343664074Benignnot_provided..HOM Link to ClinVar
167396177892BenignOrnithine_aminotransferase_deficiency
not_specified
not_provided
0.852610.86582HOM Link to ClinVar
683242664942Benignnot_provided..HOM Link to ClinVar
299181320637BenignOrnithine_aminotransferase_deficiency.0.86302HOM Link to ClinVar
299198321178BenignCongenital_erythropoietic_porphyria.0.3732HET Link to ClinVar
225268227033BenignCongenital_erythropoietic_porphyria.0.37939HET Link to ClinVar
771743701252Benignnot_provided..HET Link to ClinVar
683765664632Benignnot_provided..HOM Link to ClinVar
379966373332Benignnot_specified0.984110.94788HOM Link to ClinVar
683763664688Benignnot_provided..HOM Link to ClinVar
683762664656Benignnot_provided..HOM Link to ClinVar
683761664661Benignnot_provided..HOM Link to ClinVar
379965370659Benignnot_specified0.913080.82129HOM Link to ClinVar
683758664952Benignnot_provided..HOM Link to ClinVar
683757664086Benignnot_provided..HOM Link to ClinVar
402581389879Benignnot_specified0.991160.97284HOM Link to ClinVar
402582389938Benignnot_specified0.830220.70088HOM Link to ClinVar
768404701694Benignnot_provided..HET Link to ClinVar
768405701695Benignnot_provided..HET Link to ClinVar
669653665036Benignnot_provided..HET Link to ClinVar
674990665986Benignnot_provided..HET Link to ClinVar
193131190296BenignOsteogenesis_imperfecta_type_5
not_specified
.0.59265HET Link to ClinVar
674885665688Benignnot_provided..HOM Link to ClinVar
667613665859Benignnot_provided..HET Link to ClinVar
667612665863Benignnot_provided..HET Link to ClinVar
561388552660Benignnot_provided.0.05611HET Link to ClinVar
4043148901BenignCostello_syndrome
Rasopathy
not_specified
not_provided
0.313520.29712HOM Link to ClinVar
561357552665Benignnot_provided... Link to ClinVar
476072461411Benignnot_provided..HET Link to ClinVar
306252322136BenignEarly_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive.0.29932HET Link to ClinVar
670574666116Benignnot_provided... Link to ClinVar
667943665287Benignnot_provided..HOM Link to ClinVar
667944666312Benignnot_provided..HOM Link to ClinVar
261245254345Benignnot_specified0.534180.44249HOM Link to ClinVar
252728247067Benign/Likely_benignNeutral_lipid_storage_disease_with_myopathy
not_specified
.0.00759HET Link to ClinVar
261236254357BenignNeutral_lipid_storage_disease_with_myopathy
not_specified
0.592370.65435HOM Link to ClinVar
306309328307BenignNeutral_lipid_storage_disease_with_myopathy..HOM Link to ClinVar
306310328308BenignNeutral_lipid_storage_disease_with_myopathy.0.34225HOM Link to ClinVar
178786175377Benignnot_specified0.439550.39277HET Link to ClinVar
163995175100Benignnot_specified.0.56949HET Link to ClinVar
163996175799Benignnot_specified.0.46446HET Link to ClinVar
163997175659Benignnot_specified0.643980.54493HET Link to ClinVar
403127389907Benignnot_specified..HET Link to ClinVar
163998175660Benignnot_specified0.379790.33946HET Link to ClinVar
403133389975Benignnot_specified0.122540.08526HET Link to ClinVar
403141389852Benignnot_specified0.139160.09764HET Link to ClinVar
403147389977Benignnot_specified0.197890.32149HET Link to ClinVar
403148389927Benignnot_specified0.169380.29493HET Link to ClinVar
403150389877Benignnot_specified0.489680.48063HET Link to ClinVar
403159389881Benignnot_specified..HET Link to ClinVar
403165389999Benignnot_specified.0.28894HET Link to ClinVar
403171389954Benignnot_specified.0.46146HET Link to ClinVar
403175390023Benignnot_specified.0.46705HET Link to ClinVar
403179390027Benignnot_specified.0.54034HET Link to ClinVar
403180390035Benignnot_specified0.319060.33886HET Link to ClinVar
303822319538Likely_benignNeuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive.0.15595HET Link to ClinVar
303831313438Likely_benignNeuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive.0.20048HET Link to ClinVar
670819665706Benignnot_provided..HET Link to ClinVar
258490254079BenignCeroid_lipofuscinosis_neuronal_10
not_specified
not_provided
0.078660.05232HET Link to ClinVar
128876134324Benign/Likely_benignSeizures
Ceroid_lipofuscinosis_neuronal_10
not_specified
Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive
not_provided
0.078370.07628HET Link to ClinVar
128875134323Benign/Likely_benignSeizures
Ceroid_lipofuscinosis_neuronal_10
not_specified
Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive
not_provided
0.071310.05531HET Link to ClinVar
128873134321Benign/Likely_benignSeizures
Ceroid_lipofuscinosis_neuronal_10
not_specified
Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive
not_provided
0.070410.05531HET Link to ClinVar
669403665626Benignnot_provided..HET Link to ClinVar
140481150159not_providednot_provided.0.17372HET Link to ClinVar
94120100020Benign/Likely_benignArthrogryposis_multiplex_congenita_distal
Arthrogryposis_multiplex_congenita
Distal_arthrogryposis_type_2B
not_specified
not_provided
.0.82768HET Link to ClinVar
259023254092Benignnot_specified0.265890.17692HET Link to ClinVar
3186640526not_providednot_provided.0.78135HET Link to ClinVar
3186840528not_providednot_provided.0.77975HET Link to ClinVar
3186940529not_providednot_provided.0.8105HET Link to ClinVar
260032254096Benignnot_specified.0.82428HET Link to ClinVar
304051326978BenignMaturity_onset_diabetes_mellitus_in_young
Segawa_syndrome,_autosomal_recessive
Transient_Neonatal_Diabetes,_Dominant/Recessive
0.73780.64916HOM Link to ClinVar
255532254106BenignMaturity_onset_diabetes_mellitus_in_young
Segawa_syndrome,_autosomal_recessive
not_specified
Transient_Neonatal_Diabetes,_Dominant/Recessive
0.980490.93391HOM Link to ClinVar
304059319828BenignMaturity_onset_diabetes_mellitus_in_young
Segawa_syndrome,_autosomal_recessive
Transient_Neonatal_Diabetes,_Dominant/Recessive
not_provided
0.72680.64956HOM Link to ClinVar
263257254111Benignnot_specified0.719490.70567HOM Link to ClinVar
526231526178BenignDystonia.0.2502HET Link to ClinVar
2186634718BenignSegawa_syndrome,_autosomal_recessive
not_specified
not_provided
0.42490.43051HET Link to ClinVar
671897665973Benignnot_provided..HOM Link to ClinVar
4248851658BenignArrhythmia
Long_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
short_QT_syndrome
Familial_atrial_fibrillation
not_specified
Cardiovascular_phenotype
not_provided
0.258440.18091HOM Link to ClinVar
671898665855Benignnot_provided..HOM Link to ClinVar
671899665983Benignnot_provided..HET Link to ClinVar
304249326211BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
short_QT_syndrome
Familial_atrial_fibrillation
0.105480.09105HET Link to ClinVar
304262320017BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
short_QT_syndrome
Familial_atrial_fibrillation
0.448130.52177HET Link to ClinVar
304268320030BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
short_QT_syndrome
Familial_atrial_fibrillation
0.447450.51538HET Link to ClinVar
254879254131Benignnot_specified..HET Link to ClinVar
768417701720Benignnot_provided..HET Link to ClinVar
768418777942Benignnot_provided..HOM Link to ClinVar
258966254154Benignnot_specified0.49960.38898HET Link to ClinVar
258971254158Benignnot_specified0.889960.8121HOM Link to ClinVar
769375701771Benignnot_provided..HOM Link to ClinVar
403275390067Benignnot_specified0.212870.21586HET Link to ClinVar
403274390070Benignnot_specified0.135410.30312HOM Link to ClinVar
256342254201Benignnot_specified.0.71026HET Link to ClinVar
256341254202Benignnot_specified
not_provided
.0.09924HET Link to ClinVar
3631644980Benignbeta_Thalassemia
not_specified
not_provided
.0.71386HET Link to ClinVar
439774433082Benignbeta_Thalassemia
not_specified
not_provided
.0.09924HET Link to ClinVar
256345254206Benign/Likely_benignbeta_Thalassemia
not_specified
0.76990.72005HET Link to ClinVar
193106190271BenignHb_SS_disease
beta_Thalassemia
Fetal_hemoglobin_quantitative_trait_locus_1
not_specified
.0.71426HET Link to ClinVar
219307220996Uncertain_significanceMalignant_tumor_of_prostate0.004230.0026HET Link to ClinVar
256592254229Benignnot_specified
not_provided
..HOM Link to ClinVar
9331799224Benign/Likely_benignSphingomyelin/cholesterol_lipidosis
not_specified
not_provided
0.191740.14996HET Link to ClinVar
674309656069Benignnot_provided..HOM Link to ClinVar
201786198367BenignCardiomyopathy
not_specified
..HOM Link to ClinVar
305489328601BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.8103HOM Link to ClinVar
305490327528BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.44888HOM Link to ClinVar
558850549679Benignnot_provided0.996860.98982HOM Link to ClinVar
305512321432Uncertain_significanceNeuronal_Ceroid-Lipofuscinosis,_Recessive
not_provided
..HOM Link to ClinVar
558856549685Benignnot_provided0.549410.46206HOM Link to ClinVar
773524701905Benignnot_provided..HET Link to ClinVar
306557328659BenignCharcot-Marie-Tooth_disease_type_4.0.61082HOM Link to ClinVar
306572315597BenignCharcot-Marie-Tooth_disease_type_40.309030.32748HOM Link to ClinVar
669272665931Benignnot_provided..HOM Link to ClinVar
673451666136Benignnot_provided..HOM Link to ClinVar
669269666377Benignnot_provided..HOM Link to ClinVar
669268665942Benignnot_provided..HOM Link to ClinVar
261940254371BenignCharcot-Marie-Tooth_disease,_type_4B2
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.858360.80272HOM Link to ClinVar
669265665304Benignnot_provided..HOM Link to ClinVar
669264665972Benignnot_provided..HOM Link to ClinVar
669263665974Benignnot_provided..HOM Link to ClinVar
669262666140Benignnot_provided..HET Link to ClinVar
669306665320Benignnot_provided..HET Link to ClinVar
671682666379Benignnot_provided..HET Link to ClinVar
138965142668Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.098730.08227HET Link to ClinVar
669260665980Benignnot_provided..HET Link to ClinVar
670562666383Benignnot_provided..HOM Link to ClinVar
669259666384Benignnot_provided..HOM Link to ClinVar
669258665322Benignnot_provided..HET Link to ClinVar
672627666397Benignnot_provided..HET Link to ClinVar
672626665325Benignnot_provided..HOM Link to ClinVar
670561666152Benignnot_provided..HOM Link to ClinVar
684195665990Benignnot_provided..HOM Link to ClinVar
673450665327Benignnot_provided..HOM Link to ClinVar
670558665379Benignnot_provided..HOM Link to ClinVar
302137312171Likely_benignErythrocyte_AMP_deaminase_deficiency.0.61961HOM Link to ClinVar
302140312172BenignErythrocyte_AMP_deaminase_deficiency.0.99461HOM Link to ClinVar
302142324733Likely_benignErythrocyte_AMP_deaminase_deficiency.0.71765HOM Link to ClinVar
302175324011Benign/Likely_benignErythrocyte_AMP_deaminase_deficiency
not_specified
0.408370.36741HET Link to ClinVar
302181317975BenignErythrocyte_AMP_deaminase_deficiency.0.97484HOM Link to ClinVar
302184324028BenignErythrocyte_AMP_deaminase_deficiency.0.94728HOM Link to ClinVar
302186324845BenignErythrocyte_AMP_deaminase_deficiency.0.99341HOM Link to ClinVar
302190312217BenignErythrocyte_AMP_deaminase_deficiency.0.99401HOM Link to ClinVar
255817254060BenignHypoparathyroidism_familial_isolated
not_specified
0.161060.15136HET Link to ClinVar
255816254061BenignHypoparathyroidism_familial_isolated
not_specified
0.557920.41773HET Link to ClinVar
127107132616not_providednot_provided.0.95108HOM Link to ClinVar
127108132617Likely_pathogenicnot_provided.0.66514HET Link to ClinVar
127110132619not_providednot_provided.0.10084HET Link to ClinVar
303722326654Likely_benignMaturity_onset_diabetes_mellitus_in_young
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
.0.46885HOM Link to ClinVar
303727319470Likely_benignMaturity_onset_diabetes_mellitus_in_young
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
.0.46765HOM Link to ClinVar
303731319487Likely_benignMaturity_onset_diabetes_mellitus_in_young
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
.0.73582HOM Link to ClinVar
158670168863Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young
Islet_cell_hyperplasia
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
0.644840.73063HOM Link to ClinVar
158680168871Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young
Islet_cell_hyperplasia
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
.0.22744HET Link to ClinVar
867823717drug_responseglibenclamide_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
0.64710.73702HOM Link to ClinVar
435554429192Benignnot_specified..HOM Link to ClinVar
157704167552Likely_benignnot_specified0.343860.35623HET Link to ClinVar
157700167548Likely_benignnot_specified0.458340.42153HET Link to ClinVar
157699167547BenignPermanent_neonatal_diabetes_mellitus
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
not_provided
.0.72644HOM Link to ClinVar
157698167546BenignPermanent_neonatal_diabetes_mellitus
Hyperinsulinemic_hypoglycemia,_familial,_1
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
0.296230.39097HET Link to ClinVar
157694167542Benignnot_specified
not_provided
0.612470.61462HOM Link to ClinVar
157688167536BenignPermanent_neonatal_diabetes_mellitus
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
not_provided
0.434590.36841HET Link to ClinVar
157684167532BenignPermanent_neonatal_diabetes_mellitus
Hyperinsulinemic_hypoglycemia,_familial,_1
not_specified
Transient_Neonatal_Diabetes,_Dominant
Hyperinsulinism,_Dominant/Recessive
0.431120.42991HET Link to ClinVar
446763441416Uncertain_significancenot_specified.0.0016HET Link to ClinVar
303793325652BenignRetinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Recessive
..HOM Link to ClinVar
667875665835Benignnot_provided..HOM Link to ClinVar
4800857172Benignnot_specified0.406180.36981HOM Link to ClinVar
678908665590Benignnot_provided..HOM Link to ClinVar
678883665837Benignnot_provided..HOM Link to ClinVar
678909665660Benignnot_provided..HOM Link to ClinVar
678882664971Benignnot_provided..HET Link to ClinVar
670420665666Benignnot_provided..HET Link to ClinVar
678881664973Benignnot_provided..HET Link to ClinVar
670419665858Benignnot_provided..HOM Link to ClinVar
262731254073Benignnot_specified
not_provided
0.163590.19988HET Link to ClinVar
670417665668Benignnot_provided..HOM Link to ClinVar
678880665860Likely_benignnot_provided..HET Link to ClinVar
4797657140Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.568860.51637HOM Link to ClinVar
4797557139Uncertain_significancenot_specified0.000140.0006HET Link to ClinVar
4797457138Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.060770.08566HET Link to ClinVar
670416665673Benignnot_provided..HOM Link to ClinVar
670415665676Benignnot_provided..HOM Link to ClinVar
670414664981Benignnot_provided..HOM Link to ClinVar
4797357137Benignnot_specified.0.44269HET Link to ClinVar
678879665865Benignnot_provided..HOM Link to ClinVar
678911665682Benignnot_provided..HET Link to ClinVar
672462665685Benignnot_provided..HET Link to ClinVar
672461665602Benignnot_provided..HET Link to ClinVar
667874664982Benignnot_provided..HET Link to ClinVar
678907665694Likely_benignnot_provided..HET Link to ClinVar
262736254076Benignnot_specified..HOM Link to ClinVar
226892230112Benignnot_specified0.767960.82608HOM Link to ClinVar
768433777941Benignnot_provided..HET Link to ClinVar
262985254082Benignnot_specified0.611650.65016HET Link to ClinVar
262983254084Benignnot_specified0.591450.65016HET Link to ClinVar
183158181294associationdecreased_blood_alpha-hydroxyisovalerate_levels.0.41873HET Link to ClinVar
163678175690BenignHermansky-Pudlak_syndrome
not_specified
0.728960.80471HET Link to ClinVar
303908313482Likely_benignGlycogen_storage_disease_XI..HET Link to ClinVar
683023665627Benignnot_provided..HOM Link to ClinVar
683024665738Benignnot_provided..HOM Link to ClinVar
303912325801Benign/Likely_benignGlycogen_storage_disease_XI
not_specified
not_provided
0.144190.09744HET Link to ClinVar
684191665925Benignnot_provided..HOM Link to ClinVar
683025665630Benignnot_provided..HOM Link to ClinVar
303914319682BenignGlycogen_storage_disease_XI
not_specified
not_provided
0.697790.63458HOM Link to ClinVar
303915325814BenignGlycogen_storage_disease_XI
not_specified
not_provided
0.697720.63458HOM Link to ClinVar
558836549651Benignnot_provided0.701360.63478HOM Link to ClinVar
683026664999Benignnot_provided..HOM Link to ClinVar
684193665748Benignnot_provided..HET Link to ClinVar
683028665752Benignnot_provided..HOM Link to ClinVar
683029665640Benignnot_provided..HOM Link to ClinVar
684194665755Benignnot_provided..HOM Link to ClinVar
303925313501BenignGlycogen_storage_disease_XI0.548390.4984HET Link to ClinVar
303926313504BenignGlycogen_storage_disease_XI0.716240.62999HOM Link to ClinVar
303929313512BenignGlycogen_storage_disease_XI0.548210.498HET Link to ClinVar
672012665772Benignnot_provided..HET Link to ClinVar
678472665773Benignnot_provided..HET Link to ClinVar
683441665776Benignnot_provided..HET Link to ClinVar
683439665783Benignnot_provided..HET Link to ClinVar
683438665792Benignnot_provided..HET Link to ClinVar
303991319758BenignHyperekplexia0.088970.0637HET Link to ClinVar
304002319765BenignHyperekplexia0.406680.40575HET Link to ClinVar
304003313581BenignHyperekplexia.0.1903HET Link to ClinVar
304006313586BenignHyperekplexia.0.32688HET Link to ClinVar
304008313588BenignHyperekplexia
Hyperekplexia_3
0.778910.79313HOM Link to ClinVar
304011325940BenignHyperekplexia
Hyperekplexia_3
0.998320.99361HOM Link to ClinVar
304018325978BenignHyperekplexia.0.9974HOM Link to ClinVar
304026319779BenignHyperekplexia.0.0619HET Link to ClinVar
304033326944BenignHyperekplexia0.162280.07548HOM Link to ClinVar
304043326948BenignHyperekplexia0.183310.14078HOM Link to ClinVar
304093319863BenignGnathodiaphyseal_dysplasia
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
..HET Link to ClinVar
140544150222Benignnot_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
.0.78994HET Link to ClinVar
140547150225Benignnot_provided.0.57648HET Link to ClinVar
140548150226Benignnot_provided.0.57428HET Link to ClinVar
140554150232Benignnot_provided.0.78994HET Link to ClinVar
667964665646Benignnot_provided..HET Link to ClinVar
96681102574Benignnot_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.777220.78994HET Link to ClinVar
140559150237not_providednot_provided.0.78994HET Link to ClinVar
667965665830Benignnot_provided..HET Link to ClinVar
96687102580Benign/Likely_benignnot_specified
Miyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
..HET Link to ClinVar
140557150235Benignnot_provided.0.20647HET Link to ClinVar
304121326025Likely_benignMiyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.44409HET Link to ClinVar
304130327045Likely_benignMiyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.56749HET Link to ClinVar
304140326053Likely_benignMiyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
..HET Link to ClinVar
304142319915Likely_benignMiyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
..HET Link to ClinVar
304163319943BenignMiyoshi_myopathy
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.69289HET Link to ClinVar
304181327062Uncertain_significanceFanconi_anemia..HET Link to ClinVar
304185319949BenignFanconi_anemia.0.94908HOM Link to ClinVar
304190326155BenignFanconi_anemia.0.97145HOM Link to ClinVar
304197313761BenignFanconi_anemia.0.70367HOM Link to ClinVar
261630254128BenignFanconi_anemia
not_specified
not_provided
.0.11382HET Link to ClinVar
179329175704Benignnot_specified0.998910.99521HOM Link to ClinVar
1769732736BenignMemory_impairment,_susceptibility_to
not_specified
0.193750.20128HET Link to ClinVar
257061254134Benign/Likely_benignnot_specified
isolated_follicle-stimulating_hormone_deficiency
0.51420.61482HOM Link to ClinVar
304280320035Likely_benignisolated_follicle-stimulating_hormone_deficiency.0.55851HOM Link to ClinVar
304281313853Likely_benignisolated_follicle-stimulating_hormone_deficiency.0.55871HOM Link to ClinVar
304283320036Likely_benignisolated_follicle-stimulating_hormone_deficiency.0.55731HOM Link to ClinVar
304301320084BenignCongenital_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
.0.64317HET Link to ClinVar
304309320089BenignCongenital_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
304310327207BenignCongenital_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
.0.84984HOM Link to ClinVar
304317327217BenignCongenital_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
.0.84784HOM Link to ClinVar
304328320108BenignCongenital_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
.0.17332HET Link to ClinVar
304334327224BenignCongenital_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
.0.44788HET Link to ClinVar
304341313877BenignCongenital_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
.0.66094HET Link to ClinVar
674009665691Benignnot_provided..HET Link to ClinVar
258168254136BenignCongenital_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
0.077920.09046HET Link to ClinVar
768439701735Benignnot_provided..HET Link to ClinVar
403219390041Benignnot_specified0.933690.86042HOM Link to ClinVar
559060549658Benignnot_provided0.67490.52875HOM Link to ClinVar
126867132380associationCalcium_oxalate_urolithiasis.0.27636HET Link to ClinVar
126868132381associationCalcium_oxalate_urolithiasis.0.27636HET Link to ClinVar
126869132382associationCalcium_oxalate_urolithiasis.0.19748HET Link to ClinVar
126871132384associationCalcium_oxalate_urolithiasis.0.28095HET Link to ClinVar
126872132385associationCalcium_oxalate_urolithiasis.0.45347HET Link to ClinVar
126875132388associationCalcium_oxalate_urolithiasis.0.53994HET Link to ClinVar
126877132390associationCalcium_oxalate_urolithiasis.0.38818HET Link to ClinVar
304542320476BenignHistiocytic_medullary_reticulosis
Severe_Combined_Immune_Deficiency
.0.61322HET Link to ClinVar
304561326452Likely_benignHistiocytic_medullary_reticulosis
Severe_Combined_Immune_Deficiency
.0.09764HET Link to ClinVar
304569320503BenignHereditary_Multiple_Osteochondromatosis.0.08586HET Link to ClinVar
304623326553BenignEnlarged_parietal_foramina.0.90735HET Link to ClinVar
304633326556BenignEnlarged_parietal_foramina.0.73263HET Link to ClinVar
304644327560BenignEnlarged_parietal_foramina.0.99181HOM Link to ClinVar
304674326607Likely_benignEnlarged_parietal_foramina.0.01378HET Link to ClinVar
304683320588Likely_benignEnlarged_parietal_foramina..HET Link to ClinVar
304686320593BenignEnlarged_parietal_foramina.0.88478HOM Link to ClinVar
304688320598BenignEnlarged_parietal_foramina.0.75599HOM Link to ClinVar
304694326638Likely_benignEnlarged_parietal_foramina.0.19908HET Link to ClinVar
304703320622Likely_benignEnlarged_parietal_foramina0.083130.08007HET Link to ClinVar
304706320633BenignEnlarged_parietal_foramina.0.99161HOM Link to ClinVar
304711320636BenignEnlarged_parietal_foramina0.602830.37201HOM Link to ClinVar
304715320646BenignEnlarged_parietal_foramina0.591440.47264HOM Link to ClinVar
95903101799Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.211370.25HET Link to ClinVar
261027254171Benignnot_specified0.170980.1887HET Link to ClinVar
95905101801Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.094150.10284HET Link to ClinVar
261026254172BenignCongenital_disorder_of_glycosylation
not_specified
0.674120.45128HET Link to ClinVar
304748327713Likely_benignCongenital_disorder_of_glycosylation.0.03175HET Link to ClinVar
304755327715Likely_benignCongenital_disorder_of_glycosylation.0.1246HET Link to ClinVar
304757314145BenignCongenital_disorder_of_glycosylation.0.72065HOM Link to ClinVar
304759326748BenignCongenital_disorder_of_glycosylation0.774290.65375HOM Link to ClinVar
304760314146BenignCongenital_disorder_of_glycosylation0.170130.1246HET Link to ClinVar
368962353191Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.03235HET Link to ClinVar
259547254173BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)
not_specified
not_provided
0.815450.6891HOM Link to ClinVar
259546254174Benignnot_specified
not_provided
0.810050.6849HOM Link to ClinVar
802673791139BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..HOM Link to ClinVar
259544254176Benignnot_specified
not_provided
.0.01318HET Link to ClinVar
768444778136Benignnot_provided..HOM Link to ClinVar
256315254180Benign/Likely_benignVenous_thrombosis
Hereditary_factor_II_deficiency_disease
not_specified
0.602610.45527HET Link to ClinVar
143996153726Uncertain_significanceVenous_thrombosis.0.28295HET Link to ClinVar
304838326840BenignSyndactyly_Cenani_Lenz_type.0.58267HOM Link to ClinVar
304850320781BenignSyndactyly_Cenani_Lenz_type.0.57967HOM Link to ClinVar
304855326858BenignSyndactyly_Cenani_Lenz_type.0.36761HET Link to ClinVar
304872326874BenignSyndactyly_Cenani_Lenz_type
not_specified
0.58490.44589HET Link to ClinVar
304884320834BenignSyndactyly_Cenani_Lenz_type0.988830.98083HOM Link to ClinVar
304885327831BenignSyndactyly_Cenani_Lenz_type0.998870.99461HOM Link to ClinVar
188578186356Benignnot_specified0.106920.03295HET Link to ClinVar
680647665057Benignnot_provided..HOM Link to ClinVar
680646666044Benignnot_provided..HOM Link to ClinVar
680645666051Benignnot_provided..HOM Link to ClinVar
4276351933Benign/Likely_benignCardiomyopathy
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_hypertrophic_cardiomyopathy_4
not_specified
Dilated_Cardiomyopathy,_Dominant
..HOM Link to ClinVar
403458390052BenignSpondylocheirodysplasia,_Ehlers-Danlos_syndrome-like
not_specified
0.985350.9405HOM Link to ClinVar
384707372229Benignnot_specified.0.27057HOM Link to ClinVar
684034665908Benignnot_provided..HOM Link to ClinVar
669109665909Benignnot_provided..HOM Link to ClinVar
130089135535BenignPena-Shokeir_syndrome_type_I
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
0.683730.6248HOM Link to ClinVar
197249194410BenignPena-Shokeir_syndrome_type_I
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
..HOM Link to ClinVar
130091135537BenignPena-Shokeir_syndrome_type_I
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
0.684670.6256HOM Link to ClinVar
679851666065Benignnot_provided..HOM Link to ClinVar
683070665750Benignnot_provided..HOM Link to ClinVar
768446701795Benignnot_provided..HOM Link to ClinVar
768448701804Benignnot_provided..HOM Link to ClinVar
668099665910Benignnot_provided..HOM Link to ClinVar
305042314350Likely_benignIntrinsic_factor_deficiency0.074720.05371HET Link to ClinVar
174216781BenignIntrinsic_factor_deficiency,_congenital,_susceptibility_to
Intrinsic_factor_deficiency
0.060720.10264HET Link to ClinVar
260747254215Likely_benignnot_specified0.000440.0002HET Link to ClinVar
671928665081Benignnot_provided..HET Link to ClinVar
667551665912Benignnot_provided..HOM Link to ClinVar
667552665914Benignnot_provided..HET Link to ClinVar
126296131828BenignJoubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided
0.865880.85583HET Link to ClinVar
167734178098BenignJoubert_syndrome
Meckel-Gruber_syndrome
Joubert_syndrome_1
not_specified
not_provided
0.859330.85583HET Link to ClinVar
126297131829BenignJoubert_syndrome
Meckel-Gruber_syndrome
Joubert_syndrome_1
not_specified
not_provided
.0.71965HET Link to ClinVar
305090314380BenignJoubert_syndrome
Meckel-Gruber_syndrome
.0.71965HET Link to ClinVar
260942254221Benignnot_specified0.81950.71805HET Link to ClinVar
305100327110BenignPheochromocytoma.0.86142HET Link to ClinVar
166753177523Benign/Likely_benignnot_specified..HOM Link to ClinVar
193666190829BenignIron_Overload
Vitelliform_macular_dystrophy_type_2
Vitreoretinochoroidopathy
not_specified
Retinitis_Pigmentosa,_Recessive
0.227120.11222HET Link to ClinVar
99680105569BenignIron_Overload
Vitelliform_macular_dystrophy_type_2
Vitreoretinochoroidopathy
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided
0.175160.10144HET Link to ClinVar
99682105571BenignIron_Overload
Vitelliform_macular_dystrophy_type_2
Vitreoretinochoroidopathy
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided
0.458340.59145HET Link to ClinVar
774693701832Benignnot_provided..HET Link to ClinVar
167600178019Benignnot_specified
not_provided
0.982210.9353HOM Link to ClinVar
802680791146BenignMultiple_joint_dislocations,_short_stature,_craniofacial_dysmorphism,_and_congenital_heart_defects..HOM Link to ClinVar
684317665916Benignnot_provided..HOM Link to ClinVar
380147374164Benignnot_specified0.758560.7494HOM Link to ClinVar
257496254222Benignnot_specified0.022090.00978HET Link to ClinVar
257500254223Benignnot_specified
not_provided
0.77560.7494HOM Link to ClinVar
678151665751Benignnot_provided..HOM Link to ClinVar
777228701849Benignnot_provided..HET Link to ClinVar
683606665926Benignnot_provided..HOM Link to ClinVar
683608665934Benignnot_provided..HOM Link to ClinVar
402862390006Benignnot_specified.0.3129HOM Link to ClinVar
402864390058Benignnot_specified0.189890.16294HET Link to ClinVar
305213321162BenignFamilial_renal_hypouricemia.0.38698HET Link to ClinVar
305218321164BenignFamilial_renal_hypouricemia.0.57189HET Link to ClinVar
305225327258BenignFamilial_renal_hypouricemia.0.38538HET Link to ClinVar
305230327262BenignFamilial_renal_hypouricemia
not_specified
0.577950.38718HET Link to ClinVar
305233328343BenignFamilial_renal_hypouricemia
not_specified
0.575110.38598HET Link to ClinVar
305241328349BenignFamilial_renal_hypouricemia
not_specified
.0.97684HOM Link to ClinVar
305244321203BenignFamilial_renal_hypouricemia0.303310.39736HET Link to ClinVar
129833135279Likely_benignnot_specified.0.38179HET Link to ClinVar
129837135283Likely_benignnot_specified0.724320.53355HOM Link to ClinVar
680727666092Benignnot_provided..HET Link to ClinVar
668605665950Benignnot_provided..HOM Link to ClinVar
259830254234Benignnot_specified0.812880.65895HOM Link to ClinVar
259840254236Benignnot_specified0.793310.61242HOM Link to ClinVar
134640138379Benignnot_specified
not_provided
0.937780.83447HOM Link to ClinVar
167288177834Benignnot_specified
not_provided
0.992750.97604HOM Link to ClinVar
96249102143Benign/Likely_benignHyperparathyroidism
Multiple_endocrine_neoplasia,_type_1
Multiple_endocrine_neoplasia
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
0.393350.30791HET Link to ClinVar
305317321251Benign/Likely_benignHyperparathyroidism
Multiple_endocrine_neoplasia
not_specified
.0.19728HET Link to ClinVar
305334327435BenignAicardi_Goutieres_syndrome.0.82488HOM Link to ClinVar
402818390090Benignnot_specified0.579280.42991HET Link to ClinVar
402819390063Benignnot_specified.0.42832HET Link to ClinVar
3901547618BenignAutosomal_recessive_cutis_laxa_type_IA
Cutis_laxa,_recessive
Autosomal_recessive_cutis_laxa_type_1B
not_specified
not_provided
0.96950.89457HOM Link to ClinVar
305388327479BenignCutis_laxa,_recessive
Autosomal_recessive_cutis_laxa_type_1B
0.79170.62061HET Link to ClinVar
305400327485BenignNestor-Guillermo_progeria_syndrome.0.41793HET Link to ClinVar
305401314640BenignNestor-Guillermo_progeria_syndrome.0.67692HOM Link to ClinVar
305419321354Likely_benignMale_infertility0.156050.16254HET Link to ClinVar
305421321357BenignMale_infertility0.979650.9365HOM Link to ClinVar
305433321362Likely_benignMale_infertility0.518550.43191HET Link to ClinVar
770770701898Benignnot_provided..HET Link to ClinVar
129869135315Likely_benignnot_specified0.179190.21106HET Link to ClinVar
129871135317Likely_benignnot_specified0.242390.22724HET Link to ClinVar
129872135318BenignHistory_of_neurodevelopmental_disorder
not_specified
0.99540.98303HOM Link to ClinVar
260057254254Benignnot_specified0.17220.13938HET Link to ClinVar
771747701922Benignnot_provided..HET Link to ClinVar
261745254262BenignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
0.589370.61282HET Link to ClinVar
305483314744BenignBardet-Biedl_syndrome.0.38459HET Link to ClinVar
259168254263BenignSeizures
Ceroid_lipofuscinosis,_neuronal,_13
not_specified
not_provided
0.530030.58906HET Link to ClinVar
259172254267BenignSeizures
Ceroid_lipofuscinosis,_neuronal,_13
not_specified
not_provided
0.530770.58886HET Link to ClinVar
259169254270BenignSeizures
Ceroid_lipofuscinosis,_neuronal,_13
not_specified
not_provided
.0.58267HET Link to ClinVar
259166254271BenignSeizures
Ceroid_lipofuscinosis,_neuronal,_13
not_specified
not_provided
0.489360.20787HET Link to ClinVar
285565269802Benignnot_specified0.996880.98782HOM Link to ClinVar
262579254272Conflicting_interpretations_of_pathogenicitynot_specified
Congenital_Stationary_Night_Blindness,_Recessive
..HET Link to ClinVar
305671328807BenignCongenital_Stationary_Night_Blindness,_Recessive.0.28075HET Link to ClinVar
259205254275BenignHereditary_cancer-predisposing_syndrome
not_specified
Familial_Isolated_Pituitary_Adenomas
0.954960.84545HOM Link to ClinVar
489319932Conflicting_interpretations_of_pathogenicityDopamine_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
259206254276BenignHereditary_cancer-predisposing_syndrome
not_specified
Familial_Isolated_Pituitary_Adenomas
0.999910.9994HOM Link to ClinVar
683144665148Benignnot_provided..HOM Link to ClinVar
683175665159Benignnot_provided..HOM Link to ClinVar
683178666146Benignnot_provided..HOM Link to ClinVar
305765328891BenignLeigh_syndrome
Mitochondrial_complex_I_deficiency
.0.96865HOM Link to ClinVar
235762237442Benignnot_provided..HOM Link to ClinVar
235422237106Benignnot_provided.0.81969HET Link to ClinVar
235632237313Benignnot_specified
not_provided
0.992750.96985HOM Link to ClinVar
258634254279Benignnot_specified0.900060.84145HOM Link to ClinVar
258638254283Benignnot_specified0.675480.57927HOM Link to ClinVar
673761666162Benignnot_provided..HOM Link to ClinVar
673760665170Benignnot_provided..HOM Link to ClinVar
673759665790Benignnot_provided..HOM Link to ClinVar
678064666165Benignnot_provided..HOM Link to ClinVar
166951177647Benignnot_specified0.93130.89257HOM Link to ClinVar
9397599877Benignnot_specified0.93750.90355HOM Link to ClinVar
678470666006Benignnot_provided..HOM Link to ClinVar
668907665799Benignnot_provided..HET Link to ClinVar
258575254288BenignSpinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified
0.758950.67512HOM Link to ClinVar
668744665800Benignnot_provided..HET Link to ClinVar
681863665171Benignnot_provided..HET Link to ClinVar
668908666009Benignnot_provided..HET Link to ClinVar
681878665811Benignnot_provided..HET Link to ClinVar
258576254293BenignSpinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified
0.771890.68051HOM Link to ClinVar
681884665186Benignnot_provided..HET Link to ClinVar
681886665187Benignnot_provided..HET Link to ClinVar
258566254303BenignSpinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified
0.298830.24621HET Link to ClinVar
258570254306BenignSpinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified
0.298850.24621HET Link to ClinVar
681879666016Benignnot_provided..HET Link to ClinVar
194368191531BenignSpinal_muscular_atrophy
Spinal_muscular_atrophy,_distal,_autosomal_recessive,_1
not_specified
Autosomal_dominant_distal_hereditary_motor_neuropathy
.0.19709HET Link to ClinVar
637890625259Benignnot_specified..HET Link to ClinVar
681881666017Benignnot_provided..HET Link to ClinVar
681882665189Benignnot_provided..HET Link to ClinVar
681883665823Benignnot_provided..HET Link to ClinVar
305868321822BenignSpinal_muscular_atrophy.0.67093HOM Link to ClinVar
305872315023BenignSpinal_muscular_atrophy.0.19669HET Link to ClinVar
72715766associationSkin/hair/eye_pigmentation,_variation_in,_10.0.09964HET Link to ClinVar
1375528794risk_factorVON_HIPPEL-LINDAU_SYNDROME,_MODIFIER_OF
Colorectal_cancer,_susceptibility_to
Multiple_myeloma,_translocation_11,14_type
0.455130.41354HOM Link to ClinVar
305881327887Likely_benignAutism_spectrum_disorder..HOM Link to ClinVar
305889315045Likely_benignAutism_spectrum_disorder..HET Link to ClinVar
305931321887Likely_benignAutism_spectrum_disorder.0.74681HOM Link to ClinVar
305936315071BenignSmith-Lemli-Opitz_syndrome.0.77356HOM Link to ClinVar
305940329056BenignSmith-Lemli-Opitz_syndrome.0.74361HOM Link to ClinVar
305949329073Uncertain_significanceSmith-Lemli-Opitz_syndrome.0.00439HET Link to ClinVar
9370799610BenignSmith-Lemli-Opitz_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.853120.75639HOM Link to ClinVar
673331665829Benignnot_provided..HOM Link to ClinVar
679282666173Benignnot_provided..HOM Link to ClinVar
9371999622BenignSmith-Lemli-Opitz_syndrome
History_of_neurodevelopmental_disorder
not_specified
.0.80731HOM Link to ClinVar
679281665194Benignnot_provided..HOM Link to ClinVar
9371599618BenignSmith-Lemli-Opitz_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.87550.8101HOM Link to ClinVar
9371399616Benign/Likely_benignSmith-Lemli-Opitz_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.571850.40096HOM Link to ClinVar
667656666175Benignnot_provided..HOM Link to ClinVar
305969327973Likely_benignSmith-Lemli-Opitz_syndrome.0.35344HOM Link to ClinVar
683470665207Benignnot_provided..HOM Link to ClinVar
306034315142Likely_benignBrugada_syndrome.0.59605HOM Link to ClinVar
306035329246Likely_benignBrugada_syndrome.0.42472HET Link to ClinVar
306045328028Likely_benignBrugada_syndrome.0.59565HET Link to ClinVar
306046321937Likely_benignBrugada_syndrome.0.56709HET Link to ClinVar
306063329302Uncertain_significanceBrugada_syndrome..HET Link to ClinVar
306066328059Likely_benignBrugada_syndrome.0.56669HET Link to ClinVar
554120580Conflicting_interpretations_of_pathogenicityVentricular_fibrillation
Syncope
Cardiomyopathy
Periodic_paralysis
Brugada_syndrome_6
ENCEPHALOPATHY,_NEONATAL_SEVERE,_WITH_LACTIC_ACIDOSIS_AND_BRAIN_ABNORMALITIES
not_specified
Cardiovascular_phenotype
not_provided
0.002970.001HET Link to ClinVar
683555666203Benignnot_provided..HOM Link to ClinVar
195141192302Benignnot_specified
Osteogenesis_Imperfecta,_Recessive
0.899520.88998HET Link to ClinVar
306105315181Benignnot_specified
Osteogenesis_Imperfecta,_Recessive
0.439990.29932HET Link to ClinVar
667595666211Benignnot_provided..HET Link to ClinVar
667596666214Benignnot_provided..HET Link to ClinVar
306115328131BenignOsteogenesis_Imperfecta,_Recessive.0.2478HET Link to ClinVar
259225254323Benignnot_specified0.313750.35543HET Link to ClinVar
4325852428BenignUsher_syndrome,_type_1
Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
not_provided
.0.51358HET Link to ClinVar
4334352513BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.47404HET Link to ClinVar
680660665243Benignnot_provided..HET Link to ClinVar
678821666050Benignnot_provided..HOM Link to ClinVar
680661666223Benignnot_provided..HOM Link to ClinVar
670353666240Benignnot_provided..HOM Link to ClinVar
680664666056Benignnot_provided..HET Link to ClinVar
678822665244Benignnot_provided..HET Link to ClinVar
680662666061Benignnot_provided..HOM Link to ClinVar
678823666242Benignnot_provided..HET Link to ClinVar
255661254327Benignnot_specified
not_provided
0.54320.48562HET Link to ClinVar
678824666248Benignnot_provided..HET Link to ClinVar
670355666255Benignnot_provided..HET Link to ClinVar
678825666068Benignnot_provided..HET Link to ClinVar
680663665245Benignnot_provided..HET Link to ClinVar
678826666070Benignnot_provided..HET Link to ClinVar
678827665840Benignnot_provided..HET Link to ClinVar
670356666071Benignnot_provided..HET Link to ClinVar
670357666073Benignnot_provided..HET Link to ClinVar
678829666262Benignnot_provided..HET Link to ClinVar
255662254328Benignnot_specified
not_provided
.0.55511HET Link to ClinVar
680668665847Benignnot_provided..HET Link to ClinVar
678830665248Benignnot_provided..HET Link to ClinVar
670359666076Benignnot_provided..HET Link to ClinVar
678831666267Benignnot_provided..HET Link to ClinVar
670360665848Benignnot_provided..HET Link to ClinVar
4322652396BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.537610.46845HET Link to ClinVar
670361665852Benignnot_provided..HET Link to ClinVar
678832666272Benignnot_provided..HOM Link to ClinVar
678833666078Benignnot_provided..HET Link to ClinVar
670377665250Benignnot_provided..HET Link to ClinVar
255663254329Benignnot_specified
not_provided
0.564490.54533HET Link to ClinVar
670379665252Benignnot_provided..HET Link to ClinVar
673900665854Benignnot_provided..HET Link to ClinVar
673901665856Benignnot_provided..HET Link to ClinVar
673902666274Benignnot_provided..HET Link to ClinVar
680669665258Benignnot_provided..HET Link to ClinVar
4325752427BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.508290.43251HET Link to ClinVar
4326952439BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.543990.55172HET Link to ClinVar
678835665861Benignnot_provided..HET Link to ClinVar
670381665872Benignnot_provided..HET Link to ClinVar
678838665262Benignnot_provided..HET Link to ClinVar
670382665877Benignnot_provided..HET Link to ClinVar
4329652466BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.523210.55491HET Link to ClinVar
680670665878Benignnot_provided..HET Link to ClinVar
4329752467BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.632980.59345HET Link to ClinVar
255664254330Benignnot_specified
not_provided
0.539130.51298HET Link to ClinVar
4330352473BenignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.56750.51298HET Link to ClinVar
4330452474BenignDeafness,_autosomal_recessive_2
Retinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.499HET Link to ClinVar
674387666080Benignnot_provided..HET Link to ClinVar
674388665881Benignnot_provided..HET Link to ClinVar
4331552485Benignnot_specified0.544520.51298HET Link to ClinVar
678839665263Benignnot_provided..HET Link to ClinVar
678840666083Benignnot_provided..HET Link to ClinVar
678841666087Benignnot_provided..HET Link to ClinVar
680671666279Benignnot_provided..HET Link to ClinVar
4332352493Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
not_provided
0.026730.01597HET Link to ClinVar
4332452494Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.180560.19569HET Link to ClinVar
255665254331Benignnot_specified
not_provided
0.904480.80771HOM Link to ClinVar
4333252502Benignnot_specified0.200050.11102HET Link to ClinVar
670385665884Benignnot_provided..HOM Link to ClinVar
680675666287Benignnot_provided..HOM Link to ClinVar
306210315259Likely_benignRetinitis_pigmentosa-deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.03395HET Link to ClinVar
96088101982BenignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1H
not_specified
0.831910.83267HOM Link to ClinVar
261683254333Benignnot_specified0.195260.25859HET Link to ClinVar
261684254334Benignnot_specified0.194710.25839HET Link to ClinVar
261682254335Benignnot_specified0.225370.25879HET Link to ClinVar
96092101986Benign/Likely_benignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1H
not_specified
0.199080.14637HET Link to ClinVar
261680254337Benignnot_specified0.999991HOM Link to ClinVar
667638665895Benignnot_provided..HOM Link to ClinVar
682659666301Benignnot_provided..HOM Link to ClinVar
682658665276Benignnot_provided..HOM Link to ClinVar
380001371732Benignnot_specified0.716240.65056HOM Link to ClinVar
380000372457BenignCombined_oxidative_phosphorylation_deficiency_24
not_specified
0.738170.71006HOM Link to ClinVar
682656666099Benignnot_provided..HOM Link to ClinVar
379999372729Benignnot_specified.0.60843HOM Link to ClinVar
671602666324Benignnot_provided..HET Link to ClinVar
684192666328Benignnot_provided..HOM Link to ClinVar
671603666122Benignnot_provided..HET Link to ClinVar
671604665901Benignnot_provided..HET Link to ClinVar
215269211570Benignnot_specified
Optic_Atrophy,_Recessive
..HET Link to ClinVar
676442666342Benignnot_provided..HET Link to ClinVar
262022254360Benignnot_specified
Optic_Atrophy,_Recessive
not_provided
0.285380.376HET Link to ClinVar
403297390064Benignnot_specified.0.6228HET Link to ClinVar
403298390024Benignnot_specified.0.23203HET Link to ClinVar
403299390092Benignnot_specified0.786120.78874HOM Link to ClinVar
306335328331BenignFamilial_exudative_vitreoretinopathy.0.50998HOM Link to ClinVar
306350315395Uncertain_significanceFamilial_exudative_vitreoretinopathy... Link to ClinVar
306365315414BenignFamilial_exudative_vitreoretinopathy.0.19309HET Link to ClinVar
306385315440BenignFamilial_exudative_vitreoretinopathy.0.70367HOM Link to ClinVar
258191254362Benignnot_specified.0.93011HET Link to ClinVar
402572389960Benignnot_specified0.886080.93091HET Link to ClinVar
378318822BenignTyrosinase-negative_oculocutaneous_albinism
not_provided
.0.1859HET Link to ClinVar
377918818Conflicting_interpretations_of_pathogenicityAlbinism
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
0.176970.08127HET Link to ClinVar
377718816Pathogenic/Likely_pathogenicInborn_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
0.003490.002HET Link to ClinVar
518245508868BenignMicrocephaly,_postnatal_progressive,_with_seizures_and_brain_atrophy.0.93311HOM Link to ClinVar
129597135043BenignMicrocephaly,_postnatal_progressive,_with_seizures_and_brain_atrophy
not_specified
0.118530.11322HET Link to ClinVar
306450315480BenignAtaxia-telangiectasia-like_disorder_1.0.23423HET Link to ClinVar
193884191047BenignAtaxia-telangiectasia-like_disorder_1
not_specified
not_provided
0.378310.38878HET Link to ClinVar
129623135069BenignAtaxia-telangiectasia-like_disorder_1
not_specified
not_provided
0.325230.3131HET Link to ClinVar
259798254368Benignnot_specified.0.45727HET Link to ClinVar
403103390028Benignnot_specified0.541090.54752HET Link to ClinVar
802713791184BenignMosaic_variegated_aneuploidy_syndrome_2..HET Link to ClinVar
306505329846Likely_benignCharcot-Marie-Tooth_disease_type_4.0.02017HET Link to ClinVar
306506315510BenignCharcot-Marie-Tooth_disease_type_4.0.20347HET Link to ClinVar
306511315515BenignCharcot-Marie-Tooth_disease_type_4.0.20248HET Link to ClinVar
306514328558BenignCharcot-Marie-Tooth_disease_type_4.0.20347HET Link to ClinVar
306527328580BenignCharcot-Marie-Tooth_disease_type_4.0.20208HET Link to ClinVar
683220665290Benignnot_provided..HET Link to ClinVar
683218666350Benignnot_provided..HET Link to ClinVar
683219665292Benignnot_provided..HET Link to ClinVar
668751665907Benignnot_provided..HET Link to ClinVar
683217666355Benignnot_provided..HET Link to ClinVar
260685254369BenignCharcot-Marie-Tooth_disease,_type_4B1
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.297990.20927HET Link to ClinVar
683215665294Benignnot_provided..HET Link to ClinVar
684384665928Benignnot_provided..HET Link to ClinVar
673447666372Benignnot_provided..HET Link to ClinVar
683213666132Benignnot_provided..HET Link to ClinVar
260686254370BenignCharcot-Marie-Tooth_disease,_type_4B1
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
.0.21286HET Link to ClinVar
768471702050Benignnot_provided..HET Link to ClinVar
301884312031BenignFocal_segmental_glomerulosclerosis..HOM Link to ClinVar
162146171859not_providednot_provided.0.1266HET Link to ClinVar
259539253985Benignnot_specified
Amelogenesis_Imperfecta,_Recessive
.0.67652HET Link to ClinVar
403099389935Benignnot_specified0.542350.60004HET Link to ClinVar
403100389939Benignnot_specified0.597150.65435HET Link to ClinVar
403092389957Benignnot_specified0.930360.93131HET Link to ClinVar
403093389961Benignnot_specified0.058370.07228HET Link to ClinVar
802715791023BenignPreterm_premature_rupture_of_membranes... Link to ClinVar
667691665391Benignnot_provided..HOM Link to ClinVar
302018312103Benign/Likely_benignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided
0.043140.04153HET Link to ClinVar
667693665389Benignnot_provided..HOM Link to ClinVar
667694664787Benignnot_provided..HOM Link to ClinVar
669444665661Benignnot_provided..HET Link to ClinVar
669446665396Benignnot_provided..HET Link to ClinVar
196009193170BenignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly
not_specified
not_provided
0.712630.66833HET Link to ClinVar
379420371669Benignnot_specified
not_provided
0.020950.01458HET Link to ClinVar
302040312117Conflicting_interpretations_of_pathogenicityShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_provided
0.0003.HET Link to ClinVar
667695665407Benignnot_provided..HET Link to ClinVar
667714665664Benignnot_provided..HET Link to ClinVar
674031665409Benignnot_provided..HET Link to ClinVar
167011177681BenignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided
0.917830.93131HOM Link to ClinVar
667716665665Benignnot_provided..HOM Link to ClinVar
302056312136BenignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided
.0.57149HET Link to ClinVar
667717665411Benignnot_provided..HOM Link to ClinVar
9352999434BenignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided
0.632960.61701HET Link to ClinVar
667718664814Benignnot_provided..HOM Link to ClinVar
667719665461Benignnot_provided..HET Link to ClinVar
667720664817Benignnot_provided..HET Link to ClinVar
669450665687Benignnot_provided..HET Link to ClinVar
669451665422Benignnot_provided..HET Link to ClinVar
667721665425Benignnot_provided..HOM Link to ClinVar
667722665434Benignnot_provided..HOM Link to ClinVar
667723664819Benignnot_provided..HOM Link to ClinVar
302073317856BenignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly
not_specified
not_provided
0.787350.73842HOM Link to ClinVar
667724665690Benignnot_provided..HET Link to ClinVar
667725665696Benignnot_provided..HOM Link to ClinVar
667726665699Benignnot_provided..HOM Link to ClinVar
667727664820Benignnot_provided..HOM Link to ClinVar
667728665700Benignnot_provided..HOM Link to ClinVar
667746665468Benignnot_provided..HOM Link to ClinVar
667747665441Benignnot_provided..HOM Link to ClinVar
667748665473Benignnot_provided..HET Link to ClinVar
669452665444Benignnot_provided..HOM Link to ClinVar
667751665477Benignnot_provided..HET Link to ClinVar
9352799432BenignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
0.376450.42931HET Link to ClinVar
667752665467Benignnot_provided..HET Link to ClinVar
669456665475Benignnot_provided..HET Link to ClinVar
667755665720Benignnot_provided..HET Link to ClinVar
669457665481Benignnot_provided..HET Link to ClinVar
667756665486Benignnot_provided..HOM Link to ClinVar
669922665488Benignnot_provided..HET Link to ClinVar
667759665491Benignnot_provided..HET Link to ClinVar
669923665726Benignnot_provided..HET Link to ClinVar
9352899433BenignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
.0.13359HET Link to ClinVar
667776665730Benignnot_provided..HET Link to ClinVar
667786664847Benignnot_provided..HOM Link to ClinVar
667788665747Benignnot_provided..HOM Link to ClinVar
302117317899BenignShort_Rib_Polydactyly_Syndrome
Jeune_thoracic_dystrophy
not_specified
not_provided
0.658910.49501HOM Link to ClinVar
667790665754Benignnot_provided..HOM Link to ClinVar
669930664854Benignnot_provided..HOM Link to ClinVar
667808664858Benignnot_provided..HOM Link to ClinVar
226013227832drug_responsePlatinum_compounds_response_-_Toxicity/ADR
etoposide_response_-_Toxicity/ADR
.0.4371HOM Link to ClinVar
402491389897Benignnot_specified0.999390.9976HOM Link to ClinVar
217117210Likely_benignSepsis,_susceptibility_to
not_specified
0.985620.94848HOM Link to ClinVar
632624621797Benignnot_specified..HOM Link to ClinVar
302240318028BenignAtaxia-telangiectasia_syndrome
not_provided
.0.47604HOM Link to ClinVar
181847180398Benign/Likely_benignHereditary_cancer-predisposing_syndrome... Link to ClinVar
439418433369BenignAtaxia-telangiectasia_syndrome.0.65256HOM Link to ClinVar
181857180439Benign/Likely_benignAtaxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
..HET Link to ClinVar
181858180443Benign/Likely_benignAtaxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
..HOM Link to ClinVar
489536482779BenignHereditary_cancer-predisposing_syndrome.0.51158HOM Link to ClinVar
516633503053Benignnot_specified
not_provided
.0.51178HOM Link to ClinVar
128458133907Benign/Likely_benignAtaxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
0.110140.06689HET Link to ClinVar
133627137366Benignnot_specified
not_provided
11HOM Link to ClinVar
632649621801Benignnot_specified.0.53494HOM Link to ClinVar
633055621803Benignnot_specified..HOM Link to ClinVar
302265324952BenignAtaxia-telangiectasia_syndrome.0.51837HOM Link to ClinVar
302272324093BenignAtaxia-telangiectasia_syndrome.0.51817HOM Link to ClinVar
302285312262Uncertain_significanceAtaxia-telangiectasia_syndrome..HET Link to ClinVar
302299324138BenignAtaxia-telangiectasia_syndrome.0.53455HOM Link to ClinVar
225942227817drug_responsemetformin_response_-_Efficacy.0.46845HOM Link to ClinVar
302333318158Likely_benignNonsyndromic_Hearing_Loss,_Recessive..HET Link to ClinVar
302379318212Likely_benignCongenital_disorder_of_glycosylation..HOM Link to ClinVar
302382325030Uncertain_significanceCongenital_disorder_of_glycosylation..HET Link to ClinVar
302385324294Uncertain_significanceCongenital_disorder_of_glycosylation..HET Link to ClinVar
672477665558Benignnot_provided..HOM Link to ClinVar
4423453401BenignPosterior_polar_cataract
Alpha-B_crystallinopathy
not_specified
Cardiovascular_phenotype
Myofibrillar_Myopathy,_Dominant
.0.23982HOM Link to ClinVar
680264665554Benignnot_provided..HOM Link to ClinVar
683732665556Benignnot_provided..HOM Link to ClinVar
4464853815BenignPheochromocytoma
not_specified
.0.9361HOM Link to ClinVar
198436195597Benign/Likely_benignnot_specified0.415770.24401HET Link to ClinVar
256814253992Benignnot_specified0.641110.52656HET Link to ClinVar
256813253993BenignDystonia
not_specified
0.026410.03175HET Link to ClinVar
225963227820drug_responsenot_specified
risperidone_response_-_Efficacy
.0.11901HET Link to ClinVar
508109503143Benignnot_specified0.69590.77017HOM Link to ClinVar
508108504043Benignnot_specified0.696140.77017HOM Link to ClinVar
508146503152Benignnot_specified0.090120.08946HET Link to ClinVar
508107503712Benignnot_specified0.731570.77077HOM Link to ClinVar
508106503716Benignnot_specified0.343070.21386HET Link to ClinVar
777860701564Likely_benignnot_provided..HET Link to ClinVar
127141132639risk_factorHypertriglyceridemia,_susceptibility_to.0.8742HOM Link to ClinVar
496495487403Benignnot_provided0.109720.09066HET Link to ClinVar
440319442risk_factorHypertriglyceridemia,_susceptibility_to.0.05571HET Link to ClinVar
548114538603drug_responselovastatin_response_-_Efficacy
atorvastatin_response_-_Efficacy
simvastatin_response_-_Efficacy
.0.83706HOM Link to ClinVar
518235508859BenignHyperalphalipoproteinemia_2
not_provided
0.65420.59705HET Link to ClinVar
260475253998Benignnot_specified0.912390.90136HET Link to ClinVar
260483254004Benignnot_specified0.551860.52736HET Link to ClinVar
260485254006Benignnot_specified0.485190.46326HET Link to ClinVar
260490254011Benignnot_specified0.93830.90835HET Link to ClinVar
302515318307BenignRenal_Hypomagnesemia,_Dominant.0.19289HET Link to ClinVar
302546318326BenignInflammatory_bowel_disease
not_specified
0.527340.51677HOM Link to ClinVar
302554318357BenignInflammatory_bowel_disease
not_specified
0.738140.8111HOM Link to ClinVar
302580318366BenignInflammatory_bowel_disease0.502020.5597HOM Link to ClinVar
302584324524Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
0.007870.002HET Link to ClinVar
302585324528Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
0.66820.64078HET Link to ClinVar
302591312473Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
0.23340.15955HET Link to ClinVar
302594318395Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
0.231280.15735HET Link to ClinVar
302604312477Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
0.231960.15934HET Link to ClinVar
302615312485Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
0.433750.41973HET Link to ClinVar
302629312495Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
0.291270.28474HET Link to ClinVar
302635318464Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
0.658170.61621HET Link to ClinVar
671916665565Benignnot_provided..HET Link to ClinVar
671915665604Benignnot_provided..HET Link to ClinVar
671914665568Benignnot_provided..HET Link to ClinVar
403419389847Benignnot_specified
not_provided
0.681980.6849HET Link to ClinVar
259446254012Benignnot_specified0.502190.51438HOM Link to ClinVar
518236508860BenignSevere_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-positive,_NK_cell-positive0.675210.6258HOM Link to ClinVar
302678312525Benign/Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma
Severe_Combined_Immune_Deficiency
..HET Link to ClinVar
474799460944Benignnot_provided..HET Link to ClinVar
302688318503Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma.0.07208HET Link to ClinVar
302693324614Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma.0.29772HET Link to ClinVar
768489701599Benignnot_provided..HOM Link to ClinVar
377170364048Likely_benignnot_provided0.007140.0016HET Link to ClinVar
402412389959Benignnot_specified0.424620.44409HET Link to ClinVar
302701318535BenignGlycogen_storage_disease,_type_I.0.28355HET Link to ClinVar
139192142895Benignnot_specified0.218750.2478HET Link to ClinVar
139190142893Benignnot_specified0.105660.07748HET Link to ClinVar
801370789809Benignnot_provided..HOM Link to ClinVar
779603779515Benignnot_provided..HET Link to ClinVar
302718325405BenignGlycogen_storage_disease,_type_I.0.84964HOM Link to ClinVar
255487254014BenignAcute_intermittent_porphyria
not_specified
0.558060.57288HOM Link to ClinVar
255486254016BenignAcute_intermittent_porphyria
not_specified
.0.3147HET Link to ClinVar
561493552641Benignnot_provided.0.98722HOM Link to ClinVar
5579670452BenignNoonan_syndrome-like_disorder_with_or_without_juvenile_myelomonocytic_leukemia
Rasopathy
not_specified
not_provided
0.601120.72863HET Link to ClinVar
302792324752BenignNoonan-Like_Syndrome_Disorder..HET Link to ClinVar
302818312630BenignNoonan-Like_Syndrome_Disorder.0.21925HET Link to ClinVar
302829325571Likely_benignNoonan-Like_Syndrome_Disorder.0.00739HET Link to ClinVar
302852318699BenignNoonan-Like_Syndrome_Disorder.0.39677HET Link to ClinVar
302858312665BenignNoonan-Like_Syndrome_Disorder.0.9994HOM Link to ClinVar
302901318734BenignNoonan-Like_Syndrome_Disorder.0.23243HET Link to ClinVar
302902324826BenignNoonan-Like_Syndrome_Disorder.0.41214HET Link to ClinVar
198596195757Conflicting_interpretations_of_pathogenicityRetinal_degeneration
Microphthalmia,_isolated_6
not_specified
not_provided
0.002820.002HET Link to ClinVar
167297177837Benign/Likely_benignRetinal_degeneration
Microphthalmia,_isolated_6
not_specified
.0.90196HOM Link to ClinVar
143157152875Benign/Likely_benignRetinal_degeneration
Microphthalmia,_isolated_6
not_specified
not_provided
.0.20148HET Link to ClinVar
167299177134Benign/Likely_benignRetinal_degeneration
Microphthalmia,_isolated_6
not_specified
0.266360.18211HET Link to ClinVar
302982325780Likely_benignRetinal_degeneration
Microphthalmia,_isolated_6
0.595090.63558HET Link to ClinVar
302987324926Likely_benignRetinal_degeneration
Microphthalmia,_isolated_6
.0.58387HET Link to ClinVar
802808791116BenignCleft_lip/palate-ectodermal_dysplasia_syndrome..HOM Link to ClinVar
225967227821drug_responsenot_specified
antidepressants_response_-_Efficacy
.0.5022HET Link to ClinVar
4531554482Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.711650.77217HET Link to ClinVar
4531954486Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.308750.3103HET Link to ClinVar
4532354490Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.70410.7514HET Link to ClinVar
4533654503BenignDeafness,_autosomal_dominant_12
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.992670.99681HOM Link to ClinVar
4533854505Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
0.168960.1853HET Link to ClinVar
303057312876BenignLathosterolosis.0.72464HOM Link to ClinVar
303070318905BenignLathosterolosis.0.42213HET Link to ClinVar
303099325089BenignLathosterolosis.0.15695HET Link to ClinVar
303108318954BenignLathosterolosis.0.39337HET Link to ClinVar
671838664951Benignnot_provided..HOM Link to ClinVar
670950665579Benignnot_provided..HOM Link to ClinVar
671837664953Benignnot_provided..HOM Link to ClinVar
261028254022Benign/Likely_benignBrugada_syndrome
not_specified
Cardiovascular_phenotype
not_provided
0.08960.08207HET Link to ClinVar
674316664964Likely_benignnot_provided..HET Link to ClinVar
768493701641Benignnot_provided..HOM Link to ClinVar
303262326080BenignGaze_palsy,_familial_horizontal,_with_progressive_scoliosis_10.678530.63199HOM Link to ClinVar
303279325249BenignGaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1..HET Link to ClinVar
303289313075BenignMegalencephalic_leukoencephalopathy_with_subcortical_cysts..HET Link to ClinVar
303295326092BenignMegalencephalic_leukoencephalopathy_with_subcortical_cysts0.737120.79892HOM Link to ClinVar
303319326109BenignMegalencephalic_leukoencephalopathy_with_subcortical_cysts.0.1885HET Link to ClinVar
262682254025BenignMegalencephalic_leukoencephalopathy_with_subcortical_cysts
not_specified
0.106350.14297HET Link to ClinVar
262681254026BenignMegalencephalic_leukoencephalopathy_with_subcortical_cysts
not_specified
0.728610.79393HOM Link to ClinVar
262680254027BenignMegalencephalic_leukoencephalopathy_with_subcortical_cysts
not_specified
.0.13598HET Link to ClinVar
387269372271Likely_benignnot_specified..HET Link to ClinVar
380012372052Benignnot_specified0.07450.10463HET Link to ClinVar
380013372273Benignnot_specified0.059930.05831HET Link to ClinVar
380014373936Benignnot_specified.0.10363HET Link to ClinVar
380015372061Benignnot_specified0.36940.41933HOM Link to ClinVar
380031373938Benignnot_specified0.296280.30831HET Link to ClinVar
380016373944Benignnot_specified0.059810.05751HET Link to ClinVar
380017372289Benignnot_specified0.076290.11122HET Link to ClinVar
496139487497Benignnot_provided0.97260.98582HOM Link to ClinVar
303347319169BenignHydrolethalus_syndrome.0.85443HOM Link to ClinVar
303351313115BenignHydrolethalus_syndrome..HOM Link to ClinVar
303368319178BenignHydrolethalus_syndrome.0.16913HET Link to ClinVar
368942353171BenignHoloprosencephaly_sequence.0.4972HOM Link to ClinVar
303374326221Likely_benignHoloprosencephaly_sequence.0.24022HET Link to ClinVar
303378313133BenignHoloprosencephaly_sequence.0.27256HOM Link to ClinVar
303379325340Likely_benignHoloprosencephaly_sequence.0.03255HET Link to ClinVar
303397326250BenignHoloprosencephaly_sequence.0.50559HOM Link to ClinVar
303400313146BenignHoloprosencephaly_sequence.0.51857HET Link to ClinVar
303450325385BenignHoloprosencephaly_sequence.0.49501HET Link to ClinVar
303481326386Uncertain_significanceHoloprosencephaly_sequence..HET Link to ClinVar
303488319273Likely_benignHoloprosencephaly_sequence.0.24241HET Link to ClinVar
260799254031BenignHoloprosencephaly_sequence
Holoprosencephaly_1
not_specified
0.73099.HOM Link to ClinVar
260797254033BenignHoloprosencephaly_sequence
not_specified
.0.24221HET Link to ClinVar
260793254035BenignHoloprosencephaly_sequence
not_specified
0.414290.39956HET Link to ClinVar
260792254036BenignHoloprosencephaly_sequence
not_specified
0.258170.26817HET Link to ClinVar
260791254037BenignHoloprosencephaly_sequence
not_specified
.0.26757HET Link to ClinVar
260788254040Benignnot_specified0.327450.3121HOM Link to ClinVar
260786254042Benignnot_specified.0.94149HOM Link to ClinVar
260784254044BenignHoloprosencephaly_sequence
not_specified
0.312690.30252HET Link to ClinVar
193724190887Conflicting_interpretations_of_pathogenicityHoloprosencephaly_sequence
not_provided
0.00062.HET Link to ClinVar
303517319328Uncertain_significanceHoloprosencephaly_sequence..HET Link to ClinVar
260794254054Benignnot_specified..HET Link to ClinVar
95753101650Benign/Likely_benignHoloprosencephaly_sequence
Holoprosencephaly_11
not_specified
0.037120.02636HET Link to ClinVar
95752101649BenignHoloprosencephaly_sequence
not_specified
0.557320.57228HET Link to ClinVar
303532313196BenignMitochondrial_complex_I_deficiency
not_provided
0.789070.78614HOM Link to ClinVar
678089665832Benignnot_provided..HOM Link to ClinVar
303547313203Likely_benignMitochondrial_complex_I_deficiency.0.13139HET Link to ClinVar
257673254057Benignnot_specified0.316180.34625HET Link to ClinVar
257674254058Benignnot_specified0.313950.34485HET Link to ClinVar
129425134871Likely_benignnot_specified0.671280.70367HET Link to ClinVar
129427134873Likely_benignnot_specified0.270420.22484HET Link to ClinVar
303553325499BenignAntenatal_Bartter_Syndrome.0.16434HET Link to ClinVar
303554313219BenignAntenatal_Bartter_Syndrome.0.15735HET Link to ClinVar
303556313220BenignAntenatal_Bartter_Syndrome.0.16653HET Link to ClinVar
303561313240BenignAntenatal_Bartter_Syndrome..HET Link to ClinVar
303567326461BenignAntenatal_Bartter_Syndrome.0.16653HET Link to ClinVar
137990141693BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
Cardiovascular_phenotype
not_provided
0.843560.86981HOM Link to ClinVar
137991141694BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
Cardiovascular_phenotype
not_provided
0.841440.86621HOM Link to ClinVar
137992141695BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
Cardiovascular_phenotype
not_provided
0.841590.86701HOM Link to ClinVar
137993141696BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
Cardiovascular_phenotype
not_provided
0.986480.99501HOM Link to ClinVar
672206665653Benignnot_provided..HOM Link to ClinVar
137995141698BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
not_specified
not_provided
0.73460.73582HOM Link to ClinVar
303640325560BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
..HOM Link to ClinVar
303641313305BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
.0.8752HOM Link to ClinVar
303648313312BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
.0.15595HOM Link to ClinVar
303649325562BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
.0.73542HOM Link to ClinVar
303652326565BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
.0.85423HOM Link to ClinVar
303660326575BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
.0.68231HOM Link to ClinVar
303668319444BenignRomano-Ward_syndrome
Familial_hyperaldosteronism
.0.73982HOM Link to ClinVar
776679701660Benignnot_provided..HET Link to ClinVar
518237508861BenignIchthyosis,_congenital,_autosomal_recessive_110.843270.83287HET Link to ClinVar
518238508862BenignIchthyosis,_congenital,_autosomal_recessive_110.690450.63898HET Link to ClinVar
310533318492BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
not_provided
.0.33986HOM Link to ClinVar
261069254719BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
0.992390.97564HOM Link to ClinVar
137927141630BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
not_specified
not_provided
0.163330.07448HET Link to ClinVar
670589666857Benignnot_provided..HOM Link to ClinVar
670590666860Benignnot_provided..HOM Link to ClinVar
681290667225Benignnot_provided..HOM Link to ClinVar
261066254728BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
0.745090.69349HOM Link to ClinVar
670303667226Benignnot_provided..HOM Link to ClinVar
670304666864Benignnot_provided..HOM Link to ClinVar
137922141625BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
not_specified
0.149230.09345HOM Link to ClinVar
137923141626BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
0.148760.09345HOM Link to ClinVar
261067254731BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
.0.67951HOM Link to ClinVar
218533215458Benignnot_specified
not_provided
..HOM Link to ClinVar
538531527667BenignPseudohypoaldosteronism_type_2C
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_provided
.0.52895HOM Link to ClinVar
137926141629BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
0.155420.11582HOM Link to ClinVar
261072254767BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
0.996340.98682HOM Link to ClinVar
670309666189Benignnot_provided..HOM Link to ClinVar
670310666984Benignnot_provided..HOM Link to ClinVar
670311666998Benignnot_provided..HOM Link to ClinVar
261074254769BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
Hereditary_sensory_and_autonomic_neuropathy_type_IIA
not_specified
0.996430.98702HOM Link to ClinVar
306711333103BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
.0.98722HOM Link to ClinVar
306723333107BenignHereditary_sensory_and_autonomic_neuropathy_type_II
Pseudohypoaldosteronism_type_2A
.0.11921HOM Link to ClinVar
307801331332BenignCone_dystrophy_3..HOM Link to ClinVar
307803329967BenignCone_dystrophy_3.0.374HOM Link to ClinVar
307806331342BenignCone_dystrophy_3.0.3746HOM Link to ClinVar
307811331346BenignCone_dystrophy_3..HOM Link to ClinVar
307819323961BenignCone_dystrophy_3.0.3722HOM Link to ClinVar
307828331357BenignCone_dystrophy_3.0.38399HOM Link to ClinVar
262820254464BenignCone_dystrophy_3
not_specified
.0.9371HOM Link to ClinVar
683258665591Benignnot_provided..HET Link to ClinVar
683259666235Benignnot_provided..HOM Link to ClinVar
695132685312Benignnot_provided..HOM Link to ClinVar
9341299319BenignBrugada_syndrome
Timothy_syndrome
History_of_neurodevelopmental_disorder
not_specified
Cardiovascular_phenotype
not_provided
0.207370.12041HOM Link to ClinVar
671977666491Benignnot_provided..HOM Link to ClinVar
683261665692Benignnot_provided..HOM Link to ClinVar
683274666364Benignnot_provided..HET Link to ClinVar
671970665693Benignnot_provided..HOM Link to ClinVar
683275666496Benignnot_provided..HET Link to ClinVar
671783665698Benignnot_provided..HET Link to ClinVar
764556775881Benignnot_provided..HET Link to ClinVar
695133685328Benignnot_provided..HET Link to ClinVar
764565776028Benignnot_provided..HET Link to ClinVar
764686775962Benignnot_provided..HET Link to ClinVar
764557775888Benignnot_provided..HOM Link to ClinVar
671798666499Benignnot_provided..HET Link to ClinVar
683263666380Benignnot_provided..HET Link to ClinVar
671799666393Benignnot_provided..HET Link to ClinVar
683270665735Benignnot_provided..HOM Link to ClinVar
671800666510Benignnot_provided..HET Link to ClinVar
695135685335Benignnot_provided..HET Link to ClinVar
670939665737Benignnot_provided..HET Link to ClinVar
671801665749Benignnot_provided..HOM Link to ClinVar
794112787803Benignnot_provided..HET Link to ClinVar
764840775834Benignnot_provided..HET Link to ClinVar
683271666773Benignnot_provided..HET Link to ClinVar
671806666775Benignnot_provided..HET Link to ClinVar
671807666531Benignnot_provided..HET Link to ClinVar
671808665763Benignnot_provided..HET Link to ClinVar
676054666413Benign/Likely_benignnot_provided..HET Link to ClinVar
673265666423Benignnot_provided..HET Link to ClinVar
670958666426Benignnot_provided..HOM Link to ClinVar
670940665766Benignnot_provided..HET Link to ClinVar
695136685362Benignnot_provided..HOM Link to ClinVar
671809666431Benignnot_provided..HET Link to ClinVar
670934665770Benignnot_provided..HET Link to ClinVar
673266666436Benignnot_provided..HOM Link to ClinVar
669624666783Benignnot_provided..HOM Link to ClinVar
671810666785Benignnot_provided..HOM Link to ClinVar
671811666786Benignnot_provided..HOM Link to ClinVar
9341399320BenignBrugada_syndrome
Timothy_syndrome
History_of_neurodevelopmental_disorder
not_specified
Cardiovascular_phenotype
not_provided
0.695280.52636HET Link to ClinVar
136640140343Benignnot_specified0.99991HOM Link to ClinVar
671813666796Benignnot_provided..HOM Link to ClinVar
308169330335BenignBrugada_syndrome
Timothy_syndrome
not_provided
.0.88339HOM Link to ClinVar
308174330349BenignBrugada_syndrome
Timothy_syndrome
..HOM Link to ClinVar
308236324323BenignBrugada_syndrome
Timothy_syndrome
.0.94828HOM Link to ClinVar
308251330445BenignBrugada_syndrome
Timothy_syndrome
.0.77117HOM Link to ClinVar
308267316806BenignBrugada_syndrome
Timothy_syndrome
.0.96685HOM Link to ClinVar
678294656161Benignnot_provided..HET Link to ClinVar
380772375127Benignnot_specified.0.21985HET Link to ClinVar
308779324849BenignTumoral_calcinosis,_hyperphosphatemic,_familial
Hypophosphatemic_Rickets,_Dominant
.0.20467HOM Link to ClinVar
308803330952BenignTumoral_calcinosis,_hyperphosphatemic,_familial
not_specified
Hypophosphatemic_Rickets,_Dominant
0.123880.14736HET Link to ClinVar
138447142150Benignnot_specified
not_provided
0.246290.22404HET Link to ClinVar
138448142151Benignnot_specified0.718570.70607HET Link to ClinVar
671789666700Benignnot_provided..HET Link to ClinVar
682711666628Benignnot_provided..HOM Link to ClinVar
682712666955Benignnot_provided..HET Link to ClinVar
682713666635Benignnot_provided..HOM Link to ClinVar
671790665961Benignnot_provided..HET Link to ClinVar
138449142152Benignnot_specified0.425130.34685HET Link to ClinVar
682714666708Benignnot_provided..HOM Link to ClinVar
682725666965Benignnot_provided..HOM Link to ClinVar
682728666968Benignnot_provided..HOM Link to ClinVar
2113033982BenignEpisodic_ataxia
Myokymia
not_specified
not_provided
.0.53335HET Link to ClinVar
129313134759BenignEpisodic_ataxia
Myokymia
Episodic_ataxia_type_1
not_specified
not_provided
0.738520.82049HET Link to ClinVar
258594254607Benign/Likely_benignAtrial_fibrillation,_familial,_7
Familial_atrial_fibrillation
not_specified
.0.98103HOM Link to ClinVar
309342333135Likely_benignFamilial_atrial_fibrillation.0.21905HET Link to ClinVar
440406433116Benignnot_specified0.079260.10004HET Link to ClinVar
440405433117Benignnot_specified0.079450.10104HET Link to ClinVar
256704254648Benignnot_specified0.135090.11681HET Link to ClinVar
256703254649Benignnot_specified0.194960.16234HOM Link to ClinVar
256702254650Benign/Likely_benignvon_Willebrand_disorder
not_specified
0.059340.04473HET Link to ClinVar
256696254656Benign/Likely_benignvon_Willebrand_disorder
not_specified
0.868710.82508HOM Link to ClinVar
256695254657Benign/Likely_benignvon_Willebrand_disorder
not_specified
0.335410.30332HET Link to ClinVar
256693254659Benign/Likely_benignvon_Willebrand_disorder
not_specified
.0.70068HOM Link to ClinVar
256688254663Benign/Likely_benignvon_Willebrand_disorder
not_specified
0.457660.45607HET Link to ClinVar
256661254687Benignnot_specified0.70290.7532HET Link to ClinVar
256658254690Benignnot_specified.0.53075HET Link to ClinVar
256657254691Benign/Likely_benignvon_Willebrand_disorder
not_specified
..HET Link to ClinVar
256654254694Benign/Likely_benignvon_Willebrand_disorder
not_specified
.0.51877HOM Link to ClinVar
619927611318Benignnot_provided.0.44369HET Link to ClinVar
3703845724Benign/Likely_benignMultiple_sclerosis,_susceptibility_to,_5
not_specified
Familial_Periodic_Fever
0.362120.29972HOM Link to ClinVar
257326254705Benign/Likely_benignnot_specified
Familial_Periodic_Fever
0.37550.30152HOM Link to ClinVar
675609667205Benignnot_provided..HOM Link to ClinVar
165164175889BenignPseudohypoaldosteronism_type_1_autosomal_recessive
not_specified
Cystic_Fibrosis-Like_Syndrome
.0.74062HOM Link to ClinVar
165165175749BenignPseudohypoaldosteronism_type_1_autosomal_recessive
not_specified
Cystic_Fibrosis-Like_Syndrome
0.089870.19229HET Link to ClinVar
402517390154Benignnot_specified0.992610.9974HOM Link to ClinVar
402518390068Benignnot_specified.0.36002HET Link to ClinVar
675808667211Benignnot_provided..HET Link to ClinVar
226004227813drug_responsesildenafil_response_-_Efficacy
not_provided
0.359770.49221HET Link to ClinVar
310372326542Uncertain_significanceTriosephosphate_isomerase_deficiency..HET Link to ClinVar
310415318422Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.03654HET Link to ClinVar
310452334493BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.43211HET Link to ClinVar
261353254729BenignImmunodeficiency_with_hyper_IgM_type_2
not_specified
Immunodeficiency_with_Hyper-IgM
0.590430.48423HOM Link to ClinVar
261352254730BenignImmunodeficiency_with_hyper_IgM_type_2
not_specified
0.532330.63259HET Link to ClinVar
369029353258BenignImmunodeficiency_with_Hyper-IgM.0.99541HOM Link to ClinVar
381191375428Benignnot_specified0.416530.42931HET Link to ClinVar
674904667237Benignnot_provided..HET Link to ClinVar
561550552696Benignnot_provided.0.35803HOM Link to ClinVar
384687372586Benignnot_provided0.089180.13019HET Link to ClinVar
561804552698Benignnot_provided.0.61701HET Link to ClinVar
561805552699Benignnot_provided.0.36122HET Link to ClinVar
561806552702Benignnot_provided.0.90935HOM Link to ClinVar
561551552706Benignnot_provided.0.94888HOM Link to ClinVar
561807552707Benignnot_provided.0.94848HOM Link to ClinVar
561539552709Benignnot_provided.0.84605HOM Link to ClinVar
561552552711Benignnot_provided.0.85344HOM Link to ClinVar
561533552713Benignnot_provided.0.85643HOM Link to ClinVar
561553552714Benignnot_provided.0.82648HOM Link to ClinVar
561534552716Benignnot_provided.0.82688HOM Link to ClinVar
561535552717Benignnot_provided.0.93291HOM Link to ClinVar
561809552718Benignnot_provided..HOM Link to ClinVar
561810552719Benignnot_provided..HOM Link to ClinVar
561520552720Benignnot_provided.0.93431HOM Link to ClinVar
561521552722Benignnot_provided.0.43211HOM Link to ClinVar
383777373491Benignnot_provided0.870030.86821HOM Link to ClinVar
561554552737Benignnot_provided.0.51637HET Link to ClinVar
561555552739Benignnot_provided.0.51378HET Link to ClinVar
561527552742Benignnot_provided.0.51298HET Link to ClinVar
561568552747Benignnot_provided.0.11621HET Link to ClinVar
384669373500BenignOtitis_media,_susceptibility_to
not_provided
0.432110.43231HET Link to ClinVar
561569552752Benignnot_provided.0.10004HET Link to ClinVar
384670375466Benignnot_provided0.859110.85264HOM Link to ClinVar
384671373525Benignnot_provided0.735210.67772HET Link to ClinVar
561565552762Benignnot_provided0.412670.40455HET Link to ClinVar
561570552764Benignnot_provided.0.1893HET Link to ClinVar
561566552765Benignnot_provided.0.40435HET Link to ClinVar
211899208005Benignnot_specified0.73354.HOM Link to ClinVar
769813702542Benignnot_provided..HET Link to ClinVar
590287581228risk_factorAspergillosis,_susceptibility_to0.767920.67053HOM Link to ClinVar
402543390101Benignnot_specified0.741490.64058HOM Link to ClinVar
307658331119BenignMultiple_endocrine_neoplasia
Multiple_endocrine_neoplasia,_type_4
not_provided
.0.66174HOM Link to ClinVar
307718323803Likely_benignIntellectual_Disability,_Dominant.0.89137HOM Link to ClinVar
307723331211Likely_benignIntellectual_Disability,_Dominant.0.27496HOM Link to ClinVar
129204134650Benign/Likely_benignHistory_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Dominant
not_provided
.0.2476HET Link to ClinVar
676042666226Benignnot_provided..HET Link to ClinVar
681647666625Benignnot_provided..HET Link to ClinVar
129200134646Benign/Likely_benignHistory_of_neurodevelopmental_disorder
Mental_retardation,_autosomal_dominant_6
not_specified
Intellectual_Disability,_Dominant
not_provided
0.264660.1901HET Link to ClinVar
137516141219Benignnot_specified0.157660.10383HOM Link to ClinVar
129205134651Benign/Likely_benignHistory_of_neurodevelopmental_disorder
not_specified
Intellectual_Disability,_Dominant
.0.44149HET Link to ClinVar
402915390540Benignnot_specified..HOM Link to ClinVar
402916390087Benignnot_specified0.941090.82348HOM Link to ClinVar
1773032769AffectsBlood_group,_Dombrock_system0.349030.29273HET Link to ClinVar
307759331251BenignKeutel_syndrome.0.32408HET Link to ClinVar
284369268606BenignKeutel_syndrome
not_specified
0.379960.38538HET Link to ClinVar
307773331322BenignKeutel_syndrome..HET Link to ClinVar
307776323908BenignKeutel_syndrome.0.26218HET Link to ClinVar
307884316532BenignRotor_syndrome.0.69709HET Link to ClinVar
440287433930Benignnot_provided0.219890.18411HET Link to ClinVar
261184254467BenignRotor_syndrome
not_specified
0.804460.70248HOM Link to ClinVar
261185254468BenignRotor_syndrome
not_specified
0.806560.70228HOM Link to ClinVar
261186254469BenignRotor_syndrome
not_specified
0.804360.70248HOM Link to ClinVar
810734798983BenignGilbert's_syndrome..HOM Link to ClinVar
307896316533Benign/Likely_benignRotor_syndrome
not_specified
0.113160.06569HET Link to ClinVar
261183254470BenignRotor_syndrome
not_specified
0.804680.70288HOM Link to ClinVar
440286433929Benignnot_specified0.818210.67871HOM Link to ClinVar
810735798984BenignGilbert's_syndrome..HET Link to ClinVar
225995227775drug_responsepravastatin_response_-_Efficacy.0.05471HET Link to ClinVar
259983254471Conflicting_interpretations_of_pathogenicityGilbert's_syndrome
Rotor_syndrome
not_specified
not_provided
0.479490.6224HOM Link to ClinVar
3734640587drug_responsesimvastatin_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
0.129430.08766HET Link to ClinVar
259985254473BenignRotor_syndrome
not_specified
0.385140.41554HOM Link to ClinVar
375656362505drug_responsemethotrexate_response_-_Toxicity/ADR.0.21925HET Link to ClinVar
307959331512Likely_benignRotor_syndrome0.046320.04433HET Link to ClinVar
307967324112BenignRotor_syndrome.0.44768HET Link to ClinVar
307969331528BenignRotor_syndrome.0.44848HET Link to ClinVar
679695665596Benignnot_provided..HOM Link to ClinVar
679693666651Benignnot_provided..HOM Link to ClinVar
679691665601Benignnot_provided..HOM Link to ClinVar
679692665603Benignnot_provided..HOM Link to ClinVar
679689666405Benignnot_provided..HOM Link to ClinVar
679685666661Benignnot_provided..HOM Link to ClinVar
679683666243Benignnot_provided..HOM Link to ClinVar
679680666685Benignnot_provided..HOM Link to ClinVar
679678656146Benignnot_provided..HOM Link to ClinVar
307985316625BenignHypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver.0.53155HET Link to ClinVar
261469254475Likely_benignnot_specified..HOM Link to ClinVar
261466254478Benignnot_specified
not_provided
0.766120.71566HOM Link to ClinVar
261464254480Benignnot_specified0.765710.74062HOM Link to ClinVar
199162196321BenignHypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver
not_specified
not_provided
.0.74062HOM Link to ClinVar
261463254481BenignHypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver
not_specified
not_provided
0.789580.75459HOM Link to ClinVar
261462254482BenignHypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver
not_specified
not_provided
0.768560.74062HOM Link to ClinVar
261473254484Benignnot_specified
not_provided
0.208740.17652HET Link to ClinVar
308019316663BenignLactate_dehydrogenase_B_deficiency0.980530.93251HOM Link to ClinVar
672441666416Benignnot_provided..HOM Link to ClinVar
673827666270Benignnot_provided..HET Link to ClinVar
681194666716Benignnot_provided..HOM Link to ClinVar
681193665637Benignnot_provided..HET Link to ClinVar
681192666314Benignnot_provided..HET Link to ClinVar
261216254488Benignnot_specified
not_provided
0.388290.33467HET Link to ClinVar
681190666744Benignnot_provided..HOM Link to ClinVar
677919666745Benignnot_provided..HET Link to ClinVar
673006666437Benignnot_provided..HET Link to ClinVar
308037330167Benign/Likely_benignHypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Dilated_Cardiomyopathy,_Dominant
..HET Link to ClinVar
681189666443Benignnot_provided... Link to ClinVar
673826665667Benignnot_provided..HET Link to ClinVar
4540254569Benign/Likely_benignHypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Dilated_Cardiomyopathy,_Dominant
0.999520.9982HOM Link to ClinVar
671057665675Benignnot_provided..HOM Link to ClinVar
673825666336Benignnot_provided..HOM Link to ClinVar
261214254490Benignnot_specified0.999530.9978HOM Link to ClinVar
681188666749Benignnot_provided..HOM Link to ClinVar
4538654553Benign/Likely_benignCardiomyopathy
Hypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
0.998970.9972HOM Link to ClinVar
261213254491Benignnot_specified0.996920.99161HOM Link to ClinVar
4538454551Benign/Likely_benignHypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Dilated_Cardiomyopathy,_Dominant
0.996930.99161HOM Link to ClinVar
681187665679Benignnot_provided..HOM Link to ClinVar
672436665684Benignnot_provided..HOM Link to ClinVar
4541954586Benign/Likely_benignHypertrichotic_osteochondrodysplasia
Familial_atrial_fibrillation
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
0.61380.64477HOM Link to ClinVar
681185665689Benignnot_provided..HOM Link to ClinVar
681184666469Benignnot_provided..HOM Link to ClinVar
681183666472Benignnot_provided..HOM Link to ClinVar
261217254492Benignnot_specified0.641510.70168HOM Link to ClinVar
681182666484Benignnot_provided..HOM Link to ClinVar
308059331607Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.54832HOM Link to ClinVar
308062316688Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
..HOM Link to ClinVar
308064324167Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.54832HOM Link to ClinVar
308065330205Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.54852HOM Link to ClinVar
308066316694Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.43331HOM Link to ClinVar
308075316697Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.54812HOM Link to ClinVar
308076324182Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.54852HOM Link to ClinVar
308077331627Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
..HOM Link to ClinVar
308082316700Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.52556HOM Link to ClinVar
308089316706Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
..HOM Link to ClinVar
308102330231Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.9974HOM Link to ClinVar
308118324217Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
0.635910.54912HOM Link to ClinVar
4046748937Benign/Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
not_provided
.0.52057HOM Link to ClinVar
561815552690Benignnot_provided.0.54752HOM Link to ClinVar
4653855703BenignNoonan_syndrome_3
Rasopathy
not_specified
0.999540.9976HOM Link to ClinVar
402425390019Benignnot_specified0.234080.26458HET Link to ClinVar
802832791228BenignCharcot-Marie-Tooth_disease,_type_4H..HOM Link to ClinVar
308287331861BenignCharcot-Marie-Tooth_disease_type_4
not_specified
not_provided
.0.46705HET Link to ClinVar
670478666803Benignnot_provided..HET Link to ClinVar
670479666454Benignnot_provided..HET Link to ClinVar
670509666808Benignnot_provided..HET Link to ClinVar
680165666566Benignnot_provided..HET Link to ClinVar
308297316842Likely_benignCharcot-Marie-Tooth_disease_type_40.09530.0651HET Link to ClinVar
668737666815Benignnot_provided..HET Link to ClinVar
308299330499Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.131770.14018HET Link to ClinVar
680168666819Benignnot_provided..HET Link to ClinVar
308313331882Likely_benignCharcot-Marie-Tooth_disease_type_4.0.06689HET Link to ClinVar
308322330532Likely_benignCharcot-Marie-Tooth_disease_type_4.0.06709HET Link to ClinVar
308324330549Likely_benignCharcot-Marie-Tooth_disease_type_4.0.06709HET Link to ClinVar
308327331894BenignCharcot-Marie-Tooth_disease_type_4.0.74181HET Link to ClinVar
308336330561BenignCharcot-Marie-Tooth_disease_type_4..HET Link to ClinVar
308341330563Likely_benignCharcot-Marie-Tooth_disease_type_4.0.06789HET Link to ClinVar
308351331938BenignCharcot-Marie-Tooth_disease_type_4.0.43371HET Link to ClinVar
308355316862Likely_benignCharcot-Marie-Tooth_disease_type_4.0.06689HET Link to ClinVar
308361330594BenignCharcot-Marie-Tooth_disease_type_4.0.49661HET Link to ClinVar
308366324449Uncertain_significanceCharcot-Marie-Tooth_disease_type_4..HET Link to ClinVar
308372330604BenignCharcot-Marie-Tooth_disease_type_4.0.99022HOM Link to ClinVar
308377324459BenignCharcot-Marie-Tooth_disease_type_4.0.46765HET Link to ClinVar
678476666458Benignnot_provided..HOM Link to ClinVar
671551666462Benignnot_provided..HOM Link to ClinVar
678685666837Benignnot_provided..HET Link to ClinVar
671780665793Likely_benignnot_provided..HET Link to ClinVar
676117665808Benignnot_provided..HOM Link to ClinVar
671645666607Benignnot_provided..HET Link to ClinVar
680551666478Benignnot_provided..HET Link to ClinVar
680576665817Benignnot_provided..HET Link to ClinVar
308420332046Uncertain_significanceLethal_Encephalopathy..HET Link to ClinVar
680849665824Benignnot_provided..HET Link to ClinVar
308468330718Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy.0.03574HET Link to ClinVar
308471332116Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy.0.03574HET Link to ClinVar
308481316934Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy.0.89916HOM Link to ClinVar
4507054237Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9
not_specified
0.21080.31829HET Link to ClinVar
672403666873Benignnot_provided..HET Link to ClinVar
672402666881Benignnot_provided..HET Link to ClinVar
672401665867Benignnot_provided..HET Link to ClinVar
672209666513Benignnot_provided..HET Link to ClinVar
672400665870Benignnot_provided..HET Link to ClinVar
259441254502Benignnot_specified0.712680.59165HET Link to ClinVar
674301666893Benignnot_provided..HET Link to ClinVar
669622666640Benignnot_provided..HET Link to ClinVar
369015353244Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy.0.33247HET Link to ClinVar
683983666899Benignnot_provided..HET Link to ClinVar
308537324579BenignCongenital_fibrosis_of_the_extraocular_muscles.0.38199HET Link to ClinVar
308542330788BenignCongenital_fibrosis_of_the_extraocular_muscles.0.38219HET Link to ClinVar
3919247798BenignParkinson_disease_8,_autosomal_dominant0.526260.45288HOM Link to ClinVar
308613324683BenignParkinson_disease_8,_autosomal_dominant0.362210.31949HET Link to ClinVar
308617330850BenignParkinson_disease_8,_autosomal_dominant..HET Link to ClinVar
3919747803BenignParkinson_disease_8,_autosomal_dominant0.678090.68291HET Link to ClinVar
3920147807Likely_benignParkinson_disease_8,_autosomal_dominant0.298270.28594HET Link to ClinVar
3920947815BenignParkinson_disease_8,_autosomal_dominant0.573310.58526HET Link to ClinVar
3922247828Likely_benignParkinson_disease_8,_autosomal_dominant0.300130.27376HET Link to ClinVar
308647324716BenignParkinson_disease_8,_autosomal_dominant
not_provided
0.623980.55172HET Link to ClinVar
308656317030BenignParkinson_disease_8,_autosomal_dominant.0.55132HET Link to ClinVar
308657332384BenignParkinson_disease_8,_autosomal_dominant.0.55152HET Link to ClinVar
308662317036BenignParkinson_disease_8,_autosomal_dominant.0.55132HET Link to ClinVar
308668330896BenignParkinson_disease_8,_autosomal_dominant.0.55132HET Link to ClinVar
679919665885Benignnot_provided..HET Link to ClinVar
679921666660Benignnot_provided..HET Link to ClinVar
679922665889Benignnot_provided..HET Link to ClinVar
679153665893Benignnot_provided..HET Link to ClinVar
679156665894Benignnot_provided..HET Link to ClinVar
679152665902Benignnot_provided..HET Link to ClinVar
128791134240Benignnot_specified0.619250.57149HET Link to ClinVar
679162665913Benignnot_provided..HET Link to ClinVar
679164666564Benignnot_provided..HET Link to ClinVar
681651666908Benignnot_provided..HET Link to ClinVar
681652666911Benignnot_provided..HET Link to ClinVar
679926666923Benignnot_provided..HET Link to ClinVar
308683332405BenignProgressive_myoclonus_epilepsy_with_ataxia.0.96965HOM Link to ClinVar
308692324780Uncertain_significanceProgressive_myoclonus_epilepsy_with_ataxia..HET Link to ClinVar
308694324781BenignProgressive_myoclonus_epilepsy_with_ataxia0.246710.30012HET Link to ClinVar
308700324798BenignProgressive_myoclonus_epilepsy_with_ataxia.0.72105HOM Link to ClinVar
96506102400BenignSeizures
Progressive_myoclonus_epilepsy_with_ataxia
not_specified
not_provided
0.438460.42931HET Link to ClinVar
130024135470BenignSeizures
Progressive_myoclonus_epilepsy_with_ataxia
not_specified
not_provided
0.345910.27057HET Link to ClinVar
668046665929Benignnot_provided..HOM Link to ClinVar
668045666587Benignnot_provided..HOM Link to ClinVar
674935666933Benignnot_provided..HOM Link to ClinVar
668602666944Benignnot_provided..HOM Link to ClinVar
668600665932Benignnot_provided..HET Link to ClinVar
668599665952Benignnot_provided..HET Link to ClinVar
308741332517Likely_benignIRAK4_deficiency.0.02416HET Link to ClinVar
308828317210Likely_benignVitamin_D-Dependent_Rickets.0.54333HET Link to ClinVar
308840332585BenignVitamin_D-Dependent_Rickets.0.97824HOM Link to ClinVar
308841331058Likely_benignVitamin_D-Dependent_Rickets.0.5026HET Link to ClinVar
308842332589Uncertain_significanceVitamin_D-Dependent_Rickets.0.00539HET Link to ClinVar
308862331077Likely_benignVitamin_D-Dependent_Rickets.0.12879HET Link to ClinVar
308868332607Likely_benignVitamin_D-Dependent_Rickets.0.49421HET Link to ClinVar
308887331088drug_responsepeginterferon_alfa-2b_and_ribavirin_response_-_Efficacy
Vitamin_D-Dependent_Rickets
Vitamin_D-dependent_rickets,_type_2
not_specified
0.637560.67153HOM Link to ClinVar
308889317255Likely_benignVitamin_D-Dependent_Rickets.0.16514HET Link to ClinVar
308891331092Likely_benignVitamin_D-Dependent_Rickets.0.16613HET Link to ClinVar
675027666974Benignnot_provided..HET Link to ClinVar
802842791239BenignStickler_syndrome_type_1..HOM Link to ClinVar
674857666656Benignnot_provided..HOM Link to ClinVar
674856667018Benignnot_provided..HOM Link to ClinVar
674843666658Benignnot_provided..HOM Link to ClinVar
9378799689Benign/Likely_benignType_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant
0.489630.48283HOM Link to ClinVar
674842666662Benignnot_provided..HOM Link to ClinVar
258226254539Benignnot_specified
not_provided
0.390020.47324HOM Link to ClinVar
258225254540Benign/Likely_benignType_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant
0.395830.42971HOM Link to ClinVar
674840667026Benignnot_provided..HOM Link to ClinVar
674839666663Benignnot_provided..HOM Link to ClinVar
258219254547Benignnot_specified
not_provided
0.752220.68311HOM Link to ClinVar
674837666666Benignnot_provided..HET Link to ClinVar
674836667048Benignnot_provided..HET Link to ClinVar
585506577262Benignnot_provided.0.48403HET Link to ClinVar
585505577263Benignnot_provided.0.48383HET Link to ClinVar
585507577264Benignnot_provided.0.48602HET Link to ClinVar
258210254555Benign/Likely_benignType_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant
0.1960.20367HET Link to ClinVar
683344667055Benignnot_provided..HET Link to ClinVar
677868666003Benignnot_provided..HET Link to ClinVar
677867666779Benignnot_provided..HET Link to ClinVar
674982666782Benignnot_provided..HOM Link to ClinVar
674981666668Benignnot_provided..HOM Link to ClinVar
677855666007Benignnot_provided..HOM Link to ClinVar
677854666015Benignnot_provided..HOM Link to ClinVar
677853666671Benignnot_provided..HOM Link to ClinVar
677852666677Benignnot_provided..HOM Link to ClinVar
675025666679Benignnot_provided..HET Link to ClinVar
258244254562Benign/Likely_benignType_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant
0.293450.16074HET Link to ClinVar
258243254563Benign/Likely_benignType_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant
0.748930.68271HOM Link to ClinVar
683339666683Benignnot_provided..HOM Link to ClinVar
258241254565Benignnot_specified0.024820.01098HET Link to ClinVar
668711667058Benignnot_provided..HET Link to ClinVar
668953666018Benignnot_provided..HET Link to ClinVar
668947666687Benignnot_provided..HET Link to ClinVar
198471195632Benign/Likely_benignType_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant
.0.21925HET Link to ClinVar
677845666689Benignnot_provided..HET Link to ClinVar
671012666020Benignnot_provided..HOM Link to ClinVar
677851667068Benignnot_provided..HOM Link to ClinVar
9379199693Benignnot_specified0.771240.6859HOM Link to ClinVar
9378899690Benign/Likely_benignType_II_Collagenopathies
not_specified
Stickler_Syndrome,_Dominant
0.772560.6853HOM Link to ClinVar
308941317278Benign/Likely_benignType_II_Collagenopathies
Stickler_Syndrome,_Dominant
not_provided
.0.72764HOM Link to ClinVar
674834667074Benignnot_provided..HOM Link to ClinVar
683490666021Benignnot_provided..HET Link to ClinVar
255763254572BenignGlycogen_storage_disease,_type_VII
not_specified
not_provided
0.148540.1879HET Link to ClinVar
669651666036Benignnot_provided..HET Link to ClinVar
676171666037Benignnot_provided..HET Link to ClinVar
683493666041Benignnot_provided..HET Link to ClinVar
667847667100Benignnot_provided..HET Link to ClinVar
255754254583Benignnot_specified
not_provided
0.735220.64537HOM Link to ClinVar
255758254587BenignGlycogen_storage_disease,_type_VII
not_specified
not_provided
.0.20427HET Link to ClinVar
402501390097Benignnot_specified0.369880.3099HOM Link to ClinVar
8868594265Likely_pathogenicPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_27
Kartagener_syndrome
not_provided
..HET Link to ClinVar
402502390144Benignnot_specified.0.30771HOM Link to ClinVar
402503390099Benignnot_specified0.369710.30831HOM Link to ClinVar
402504390145Benignnot_specified0.369230.30811HOM Link to ClinVar
504917497419Benignnot_specified0.759270.66713HOM Link to ClinVar
309241317502BenignNephrogenic_diabetes_insipidus.0.35264HET Link to ClinVar
309255317523BenignNephrogenic_diabetes_insipidus.0.88878HOM Link to ClinVar
309257333084BenignNephrogenic_diabetes_insipidus.0.48123HET Link to ClinVar
309259333088BenignNephrogenic_diabetes_insipidus.0.22764HET Link to ClinVar
309263331609BenignNephrogenic_diabetes_insipidus..HET Link to ClinVar
309264331612BenignNephrogenic_diabetes_insipidus.0.88518HOM Link to ClinVar
309274317541BenignNephrogenic_diabetes_insipidus.0.23423HET Link to ClinVar
309281331638BenignAnemia,_hypochromic_microcytic,_with_iron_overload_10.425360.4381HOM Link to ClinVar
309290317582BenignAnemia,_hypochromic_microcytic,_with_iron_overload_10.918580.89677HOM Link to ClinVar
309307331680BenignAnemia,_hypochromic_microcytic,_with_iron_overload_10.934210.89597HOM Link to ClinVar
309323325455BenignAnemia,_hypochromic_microcytic,_with_iron_overload_10.452510.3119HOM Link to ClinVar
309328333177BenignAnemia,_hypochromic_microcytic,_with_iron_overload_10.918060.89677HOM Link to ClinVar
130253135700BenignHistory_of_neurodevelopmental_disorder
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided
0.836690.78494HOM Link to ClinVar
670686667114Benignnot_provided..HOM Link to ClinVar
669362666047Benignnot_provided..HOM Link to ClinVar
260352254609Benignnot_specified0.791470.70747HOM Link to ClinVar
684270666831Benignnot_provided..HOM Link to ClinVar
670526666833Benignnot_provided..HET Link to ClinVar
670540666750Benignnot_provided..HET Link to ClinVar
670844666055Benignnot_provided..HET Link to ClinVar
139073142776Benignnot_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
0.140.16014HET Link to ClinVar
684272666841Benignnot_provided..HET Link to ClinVar
130247135694BenignHistory_of_neurodevelopmental_disorder
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided
0.650010.50379HET Link to ClinVar
670845667128Benignnot_provided..HET Link to ClinVar
668851666057Benignnot_provided..HET Link to ClinVar
668853666059Benignnot_provided..HET Link to ClinVar
130251135698BenignHistory_of_neurodevelopmental_disorder
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant
not_provided
.0.48902HET Link to ClinVar
309381331755BenignEarly_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant.0.16314HET Link to ClinVar
309407331784BenignEarly_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant0.753650.83846HOM Link to ClinVar
810906799691BenignHereditary_hemorrhagic_telangiectasia_type_2..HET Link to ClinVar
136293139996BenignHereditary_hemorrhagic_telangiectasia_type_2
Hereditary_hemorrhagic_telangiectasia_type_1
not_specified
0.426330.43111HET Link to ClinVar
254710254610BenignHereditary_hemorrhagic_telangiectasia_type_2
not_specified
0.457750.4367HET Link to ClinVar
439376433105BenignHereditary_hemorrhagic_telangiectasia_type_2
not_specified
..HET Link to ClinVar
254709254616Benign/Likely_benignHereditary_hemorrhagic_telangiectasia_type_2
not_specified
not_provided
0.284290.34345HET Link to ClinVar
439373433114BenignHereditary_hemorrhagic_telangiectasia_type_2
not_provided
0.307610.34325HET Link to ClinVar
810907799705BenignHereditary_hemorrhagic_telangiectasia_type_2..HET Link to ClinVar
678439666850BenignHereditary_hemorrhagic_telangiectasia_type_2
not_provided
..HET Link to ClinVar
811605799708BenignHereditary_hemorrhagic_telangiectasia_type_2..HET Link to ClinVar
810856799709BenignHereditary_hemorrhagic_telangiectasia_type_2..HET Link to ClinVar
309454333309BenignHereditary_hemorrhagic_telangiectasia_type_1.0.34245HET Link to ClinVar
309467333318BenignHereditary_hemorrhagic_telangiectasia_type_1.0.69968HOM Link to ClinVar
309477333333Likely_benignHereditary_hemorrhagic_telangiectasia_type_1.0.17672HET Link to ClinVar
309483317733Likely_benignHereditary_hemorrhagic_telangiectasia_type_1.0.13099HET Link to ClinVar
309484331852Likely_benignHereditary_hemorrhagic_telangiectasia_type_1.0.14257HET Link to ClinVar
6654577442not_providednot_provided.0.1873HET Link to ClinVar
309489331858BenignBeaded_hair.0.71086HET Link to ClinVar
309494333362BenignBeaded_hair0.699840.73622HET Link to ClinVar
309499325618BenignBeaded_hair.0.71146HET Link to ClinVar
309521333400BenignBeaded_hair0.666260.71785HET Link to ClinVar
6654677443BenignBeaded_hair
not_provided
0.323130.36262HET Link to ClinVar
189116930risk_factorPseudofolliculitis_barbae,_susceptibility_to
not_provided
0.123080.14317HET Link to ClinVar
768547702366Likely_benignnot_provided..HOM Link to ClinVar
309550331909BenignEpidermolysis_bullosa_simplex.0.12919HET Link to ClinVar
6622477121BenignEpidermolysis_bullosa_simplex
not_specified
not_provided
0.13440.12879HET Link to ClinVar
6622377120BenignEpidermolysis_bullosa_simplex
not_specified
not_provided
0.13940.15176HET Link to ClinVar
6619877095BenignEpidermolysis_bullosa_simplex
not_specified
not_provided
0.130.12859HET Link to ClinVar
6628377180BenignEpidermolysis_bullosa_simplex
not_specified
not_provided
.0.1276HET Link to ClinVar
6628277179BenignEpidermolysis_bullosa_simplex
not_specified
not_provided
0.130290.128HET Link to ClinVar
256044254617BenignEpidermolysis_bullosa_simplex
not_specified
.0.13818HET Link to ClinVar
256043254618BenignEpidermolysis_bullosa_simplex
not_specified
0.072180.06849HET Link to ClinVar
309581333460BenignEpidermolysis_bullosa_simplex.0.10523HET Link to ClinVar
309616331979BenignIchthyosis_bullosa_of_Siemens.0.07208HET Link to ClinVar
309626317855BenignIchthyosis_bullosa_of_Siemens.0.27816HET Link to ClinVar
309637333512BenignNonepidermolytic_palmoplantar_keratoderma
Bullous_ichthyosiform_erythroderma
0.305070.27556HET Link to ClinVar
6662377520BenignNonepidermolytic_palmoplantar_keratoderma
Bullous_ichthyosiform_erythroderma
not_provided
0.443440.42552HET Link to ClinVar
6666777564not_providednot_provided.0.28854HET Link to ClinVar
6666677563not_providednot_provided0.444030.42552HET Link to ClinVar
6651677413BenignWhite_sponge_nevus_of_cannon
not_provided
.0.83706HOM Link to ClinVar
309671325795BenignWhite_sponge_nevus_of_cannon.0.83786HOM Link to ClinVar
309687333549BenignWhite_sponge_nevus_of_cannon0.831730.82348HOM Link to ClinVar
768551702383Benignnot_provided..HOM Link to ClinVar
6653577432not_providednot_provided0.553010.56749HET Link to ClinVar
128252133701BenignGlucocorticoid_deficiency_with_achalasia
not_specified
0.974540.91534HOM Link to ClinVar
309747325888Uncertain_significanceOsteogenesis_Imperfecta,_Recessive.0.00339HET Link to ClinVar
309751325889BenignOsteogenesis_Imperfecta,_Recessive..HOM Link to ClinVar
285779270016BenignOsteogenesis_imperfecta_type_12
not_specified
Osteogenesis_Imperfecta,_Recessive
0.986640.96126HOM Link to ClinVar
285778270015BenignOsteogenesis_imperfecta_type_12
not_specified
Osteogenesis_Imperfecta,_Recessive
0.958210.89557HOM Link to ClinVar
667626666759Benignnot_provided..HOM Link to ClinVar
129297134743Conflicting_interpretations_of_pathogenicitynot_specified
Congenital_Muscular_Dystrophy,_ITGA7-related
not_provided
0.004660.0024HET Link to ClinVar
9404799949Conflicting_interpretations_of_pathogenicityMuscular_dystrophy,_congenital,_due_to_integrin_alpha-7_deficiency
not_specified
Congenital_Muscular_Dystrophy,_ITGA7-related
.0.01558HET Link to ClinVar
9404699948Benign/Likely_benignnot_specified
Congenital_Muscular_Dystrophy,_ITGA7-related
.0.03494HET Link to ClinVar
258857254633Benign/Likely_benignPigmentary_retinal_dystrophy
not_specified
0.195220.15276HET Link to ClinVar
130383135830BenignSulfite_oxidase_deficiency
not_specified
.0.7522HOM Link to ClinVar
309857318056BenignDiamond-Blackfan_anemia
not_specified
.0.55591HOM Link to ClinVar
309863325984BenignCataract..HOM Link to ClinVar
309866325987BenignCataract.0.32209HET Link to ClinVar
309871318063BenignCataract.0.26917HET Link to ClinVar
309875325992BenignCataract.0.85304HET Link to ClinVar
309883333746BenignCataract.0.97224HOM Link to ClinVar
260169254635Benign/Likely_benignCataract
Cataract_15,_multiple_types
not_specified
0.02530.02196HET Link to ClinVar
768555702431Benignnot_provided..HOM Link to ClinVar
226408228212Likely_benignDeafness,_autosomal_dominant_48
Nonsyndromic_Hearing_Loss,_Dominant
0.002870.001HET Link to ClinVar
774328702442Benignnot_provided..HET Link to ClinVar
118916228Uncertain_significanceCoronary_artery_spasm_3,_susceptibility_to.0.37021HOM Link to ClinVar
682853666097Benignnot_provided..HOM Link to ClinVar
682856666891Benignnot_provided..HOM Link to ClinVar
682858666798Benignnot_provided..HOM Link to ClinVar
309975332311Uncertain_significanceCutaneous_Malignant_Melanoma,_Dominant..HET Link to ClinVar
678634666914Benignnot_provided..HOM Link to ClinVar
198206195367Benignnot_specified0.13708.HET Link to ClinVar
403522390062BenignGlaucoma_1,_open_angle,_p
not_specified
not_provided
0.481420.35324HOM Link to ClinVar
310175332553BenignSanfilippo_syndrome.0.60643HOM Link to ClinVar
310184334206BenignSanfilippo_syndrome.0.59385HOM Link to ClinVar
310198332602BenignSanfilippo_syndrome.0.71566HOM Link to ClinVar
9402999931BenignSanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-D
not_specified
not_provided
..HOM Link to ClinVar
310219326356Benign/Likely_benignDermatofibrosis_lenticularis_disseminata
not_specified
0.203490.08327HET Link to ClinVar
310222332656Likely_benignDermatofibrosis_lenticularis_disseminata0.074260.04812HET Link to ClinVar
310255332686Likely_benignDermatofibrosis_lenticularis_disseminata.0.04792HET Link to ClinVar
310277326419BenignFraser_syndrome_1..HOM Link to ClinVar
310290332712BenignFraser_syndrome_1.0.50379HOM Link to ClinVar
261411254710BenignFraser_syndrome_1
not_specified
.0.97464HOM Link to ClinVar
261410254711BenignFraser_syndrome_1
not_specified
0.949380.84365HOM Link to ClinVar
261409254712BenignFraser_syndrome_1
not_specified
0.561560.42232HET Link to ClinVar
261413254713BenignFraser_syndrome_1
not_specified
0.652310.71705HOM Link to ClinVar
695297685383Likely_benignnot_provided..HET Link to ClinVar
310335332755BenignFamilial_visceral_amyloidosis,_Ostertag_type.0.91993HOM Link to ClinVar
310354318410BenignFamilial_visceral_amyloidosis,_Ostertag_type.0.46865HOM Link to ClinVar
310386326588Likely_benignTryptophan_5-monooxygenase_deficiency0.564660.54173HOM Link to ClinVar
310388332804Likely_benignTryptophan_5-monooxygenase_deficiency0.573190.48722HOM Link to ClinVar
3575244416Benign/Likely_benignBardet-Biedl_syndrome_1
not_specified
not_provided
0.008370.0028HET Link to ClinVar
669384667213Likely_benignnot_provided..HET Link to ClinVar
226934230375Benignnot_specified0.698540.68331HET Link to ClinVar
501890493314Benignnot_specified0.217470.18331HET Link to ClinVar
226944230391Benignnot_specified0.96180.94848HOM Link to ClinVar
226949230398Benignnot_specified..HET Link to ClinVar
226952230404Benignnot_specified0.615080.49481HET Link to ClinVar
226956230408Benignnot_specified0.223310.17332HET Link to ClinVar
226957230409Benignnot_specified0.853120.83407HOM Link to ClinVar
226962230414Benignnot_specified0.182890.17153HET Link to ClinVar
226966230419Benignnot_specified0.940010.96446HOM Link to ClinVar
226968230422Benignnot_specified.0.16993HET Link to ClinVar
226969230423Benignnot_specified0.786830.67812HOM Link to ClinVar
226970230424Benignnot_specified0.945390.96865HOM Link to ClinVar
226972230426Benignnot_specified0.589320.48403HET Link to ClinVar
226976230431Benignnot_specified0.787420.68311HOM Link to ClinVar
671633666135Benignnot_provided..HET Link to ClinVar
682569656185BenignDeafness,_autosomal_recessive_84
not_provided
..HOM Link to ClinVar
682570666138Benignnot_provided..HOM Link to ClinVar
805262793449Benignnot_provided..HET Link to ClinVar
310511334598BenignCentronuclear_Myopathy,_Dominant.0.45847HET Link to ClinVar
310516326716BenignCentronuclear_Myopathy,_Dominant.0.45847HET Link to ClinVar
681349667239Benignnot_provided..HET Link to ClinVar
678616666884Benignnot_provided..HOM Link to ClinVar
166828177569BenignJoubert_syndrome
Leber_congenital_amaurosis
Meckel-Gruber_syndrome
Renal_dysplasia_and_retinal_aplasia
Bardet-Biedl_syndrome
not_specified
..HOM Link to ClinVar
126261131793Benignnot_specified0.884130.76458HOM Link to ClinVar
668069666942Benignnot_provided..HOM Link to ClinVar
261845254744Benignnot_specified..HOM Link to ClinVar
668067666887Benignnot_provided..HOM Link to ClinVar
96170102064BenignJoubert_syndrome
Leber_congenital_amaurosis
Meckel-Gruber_syndrome
Renal_dysplasia_and_retinal_aplasia
Bardet-Biedl_syndrome
not_specified
not_provided
..HOM Link to ClinVar
668886667251Benignnot_provided..HET Link to ClinVar
668066666174Benignnot_provided..HOM Link to ClinVar
126253131785Benignnot_specified.0.76458HOM Link to ClinVar
126249131781Benignnot_specified
not_provided
.0.76458HOM Link to ClinVar
678615666952Benignnot_provided..HOM Link to ClinVar
680377667264Benignnot_provided..HOM Link to ClinVar
166839177574BenignJoubert_syndrome
Leber_congenital_amaurosis
Meckel-Gruber_syndrome
Renal_dysplasia_and_retinal_aplasia
Bardet-Biedl_syndrome
not_specified
0.928390.8736HOM Link to ClinVar
1281127850AffectsSkin/hair/eye_pigmentation,_variation_in,_7.0.03175HET Link to ClinVar
802882791287BenignHypogonadotropic_hypogonadism_19_with_or_without_anosmia..HET Link to ClinVar
677224666195Benignnot_provided..HOM Link to ClinVar
768570778133Benignnot_provided..HOM Link to ClinVar
682690667009Benignnot_provided..HET Link to ClinVar
310677327068Likely_benignHistidinemia.0.35244HOM Link to ClinVar
310679327069BenignHistidinemia.0.45347HOM Link to ClinVar
310695333174Uncertain_significanceHistidinemia..HET Link to ClinVar
310701333182Likely_benignHistidinemia.0.17712HET Link to ClinVar
310709334906BenignHistidinemia0.839380.88718HOM Link to ClinVar
310710318725BenignHistidinemia0.846830.91114HOM Link to ClinVar
310719333194BenignHistidinemia0.564790.57967HET Link to ClinVar
684070666200Benignnot_provided..HET Link to ClinVar
672959667012Benignnot_provided..HET Link to ClinVar
672960667016Benignnot_provided..HET Link to ClinVar
672961667022Benignnot_provided..HET Link to ClinVar
671210667284Benignnot_provided..HET Link to ClinVar
310785334955Likely_benignDilated_Cardiomyopathy,_Dominant.0.13359HET Link to ClinVar
678043667033Benignnot_provided..HOM Link to ClinVar
306637322498BenignNonsyndromic_Hearing_Loss,_Dominant0.48750.377HET Link to ClinVar
368977353206Likely_benignNonsyndromic_Hearing_Loss,_Dominant.0.31729HET Link to ClinVar
129644135090BenignDistal_arthrogryposis
not_specified
0.954210.96446HOM Link to ClinVar
306773330054Likely_benignI_cell_disease
Mucolipidosis,_Type_III_Alpha/Beta
.0.07827HOM Link to ClinVar
671998666005Benignnot_provided..HOM Link to ClinVar
96121102015BenignI_cell_disease
not_specified
Mucolipidosis,_Type_III_Alpha/Beta
not_provided
0.601460.6905HOM Link to ClinVar
96119102013BenignI_cell_disease
not_specified
Mucolipidosis,_Type_III_Alpha/Beta
not_provided
0.588510.65136HOM Link to ClinVar
671996666428Benignnot_provided..HOM Link to ClinVar
671995666183Benignnot_provided..HOM Link to ClinVar
671994666192Benignnot_provided..HOM Link to ClinVar
671993666430Benignnot_provided..HOM Link to ClinVar
671992666199Benignnot_provided..HOM Link to ClinVar
684061666013Benignnot_provided..HOM Link to ClinVar
306840328922BenignInsulin-like_growth_factor_I_deficiency.0.61901HOM Link to ClinVar
306880330185BenignInsulin-like_growth_factor_I_deficiency.0.42692HOM Link to ClinVar
306886322907Uncertain_significanceInsulin-like_growth_factor_I_deficiency..HOM Link to ClinVar
306892315820BenignInsulin-like_growth_factor_I_deficiency.0.63858HET Link to ClinVar
306911330196BenignPhenylketonuria.0.29253HET Link to ClinVar
102592108328Benignnot_specified
not_provided
0.016250.01058HET Link to ClinVar
167413177903Benignnot_specified.0.84026HOM Link to ClinVar
9275598662BenignPhenylketonuria
not_specified
not_provided
0.351730.26957HET Link to ClinVar
167414177904Benignnot_specified.0.54653HOM Link to ClinVar
102712108448not_providednot_provided.0.23463HET Link to ClinVar
102673108409Benignnot_specified
not_provided
0.372520.29433HET Link to ClinVar
9273698643BenignPhenylketonuria
not_specified
not_provided
0.194270.21685HET Link to ClinVar
585207576256Conflicting_interpretations_of_pathogenicityPhenylketonuria.0.36362HET Link to ClinVar
162758175385Benignnot_specified0.052520.07129HET Link to ClinVar
306923315852Uncertain_significancePol_III-related_leukodystrophy.0.00679HET Link to ClinVar
130001135447BenignPol_III-related_leukodystrophy
not_specified
.0.31789HET Link to ClinVar
130003135449BenignPol_III-related_leukodystrophy
not_specified
0.324140.32488HET Link to ClinVar
306955330244BenignPol_III-related_leukodystrophy.0.32488HET Link to ClinVar
559220549981Benignnot_provided..HOM Link to ClinVar
559222549983Benignnot_provided.0.50759HET Link to ClinVar
214554211576Benignnot_specified..HOM Link to ClinVar
684116666438Benignnot_provided..HOM Link to ClinVar
681978666439Benignnot_provided..HOM Link to ClinVar
261417254400Benignnot_specified
not_provided
.0.5619HET Link to ClinVar
667567666224Benignnot_provided..HET Link to ClinVar
667566665364Benignnot_provided..HET Link to ClinVar
667565666228Benignnot_provided..HET Link to ClinVar
261420254405BenignSpondylometaphyseal_dysplasia
Metatrophic_dysplasia
Charcot-Marie-Tooth_disease,_type_2
Brachyolmia
Scapuloperoneal_spinal_muscular_atrophy
Distal_spinal_muscular_atrophy,_congenital_nonprogressive
not_specified
not_provided
.0.75439HET Link to ClinVar
670248666234Benignnot_provided..HOM Link to ClinVar
670247665388Benignnot_provided..HOM Link to ClinVar
670706666236Benignnot_provided..HET Link to ClinVar
670705665393Benignnot_provided..HET Link to ClinVar
3177440434not_providednot_provided.0.14996HET Link to ClinVar
3177240432BenignFamilial_hypertrophic_cardiomyopathy_10
not_specified
not_provided
..HET Link to ClinVar
522365512973Likely_benignSpinocerebellar_ataxia_20.215740.23143HET Link to ClinVar
128508133957Benign/Likely_benignSpinocerebellar_ataxia_2
not_specified
0.718610.44429HET Link to ClinVar
128507133956Benign/Likely_benignSpinocerebellar_ataxia_2
not_specified
0.8750.44429HET Link to ClinVar
307220316040Benign/Likely_benignNoonan_syndrome
Noonan_syndrome_with_multiple_lentigines
Metachondromatosis
not_provided
.0.14317HET Link to ClinVar
561607552671Benignnot_provided.0.3734HET Link to ClinVar
4056949039BenignNoonan_syndrome.0.51178HET Link to ClinVar
307230329407Uncertain_significanceNoonan_syndrome
Noonan_syndrome_with_multiple_lentigines
Metachondromatosis
..HET Link to ClinVar
1398529024Uncertain_significanceDiabetes_mellitus,_type_1,_susceptibility_to0.562780.47384HOM Link to ClinVar
307275316071BenignHolt-Oram_syndrome.0.80831HOM Link to ClinVar
307300323333BenignHolt-Oram_syndrome0.683730.57228HOM Link to ClinVar
307318329565Likely_benignHolt-Oram_syndrome.0.0002HET Link to ClinVar
307336323367BenignUlnar-mammary_syndrome.0.49581HOM Link to ClinVar
307384316155BenignUlnar-mammary_syndrome.0.15915HET Link to ClinVar
307399330802BenignUlnar-mammary_syndrome..HET Link to ClinVar
676114665408Benignnot_provided..HET Link to ClinVar
669703665417Benignnot_provided..HET Link to ClinVar
136259139962BenignDeficiency_of_butyryl-CoA_dehydrogenase
not_specified
0.57060.59066HET Link to ClinVar
136260139963BenignDeficiency_of_butyryl-CoA_dehydrogenase
not_specified
0.545260.67312HET Link to ClinVar
307453316184BenignDeficiency_of_butyryl-CoA_dehydrogenase.0.27436HET Link to ClinVar
129234134680BenignMaturity_onset_diabetes_mellitus_in_young
not_specified
not_provided
0.472170.42851HOM Link to ClinVar
1493729976BenignSERUM_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
0.353290.29852HOM Link to ClinVar
676859666539Benignnot_provided..HOM Link to ClinVar
676864665420Benignnot_provided..HOM Link to ClinVar
673535666082Benignnot_provided..HOM Link to ClinVar
676874666269Benignnot_provided..HOM Link to ClinVar
673536666085Benignnot_provided..HOM Link to ClinVar
676860666276Benignnot_provided..HOM Link to ClinVar
133355137094Benignnot_specified
not_provided
..HOM Link to ClinVar
680606666096Benignnot_provided..HOM Link to ClinVar
129229134675BenignMaturity_onset_diabetes_mellitus_in_young
not_specified
not_provided
0.336780.31669HOM Link to ClinVar
129230134676BenignMaturity_onset_diabetes_mellitus_in_young
not_specified
not_provided
0.346510.31769HOM Link to ClinVar
129231134677BenignMaturity_onset_diabetes_mellitus_in_young
not_specified
not_provided
0.434720.35963HOM Link to ClinVar
676877666282Benignnot_provided..HOM Link to ClinVar
135505139244not_providednot_specified0.814540.77696HOM Link to ClinVar
3681045471BenignMaturity-onset_diabetes_of_the_young,_type_3
not_specified
0.995850.98522HOM Link to ClinVar
673537666285Benignnot_provided..HOM Link to ClinVar
307464329694BenignMaturity_onset_diabetes_mellitus_in_young.0.35982HOM Link to ClinVar
307468323496BenignMaturity_onset_diabetes_mellitus_in_young.0.36002HOM Link to ClinVar
802899791201BenignHawkinsinuria..HOM Link to ClinVar
368982353211BenignHypertyrosinemia
Hawkinsinuria
.0.33606HET Link to ClinVar
403606390112Benignnot_specified0.042350.03435HET Link to ClinVar
403607390117Benignnot_specified0.042610.03614HET Link to ClinVar
770415702187Benignnot_provided..HET Link to ClinVar
671535666286Benignnot_provided..HOM Link to ClinVar
307502323565BenignCombined_oxidative_phosphorylation_deficiency.0.65136HOM Link to ClinVar
307507316228BenignCombined_oxidative_phosphorylation_deficiency.0.55731HOM Link to ClinVar
307508316231BenignCombined_oxidative_phosphorylation_deficiency.0.65056HOM Link to ClinVar
675007666542Benignnot_provided..HET Link to ClinVar
670707666288Benignnot_provided..HET Link to ClinVar
675008666100Benignnot_provided..HET Link to ClinVar
675009666290Benignnot_provided..HET Link to ClinVar
675010665445Benignnot_provided..HET Link to ClinVar
672228665448Benignnot_provided..HET Link to ClinVar
672250665449Benignnot_provided..HET Link to ClinVar
670708665450Benignnot_provided..HET Link to ClinVar
670709666101Benignnot_provided..HET Link to ClinVar
675011665453Benignnot_provided..HET Link to ClinVar
675012666292Benignnot_provided..HET Link to ClinVar
672251666293Benignnot_provided..HET Link to ClinVar
671911666296Benignnot_provided..HET Link to ClinVar
671912665455Benignnot_provided..HET Link to ClinVar
126290131822Benignnot_specified
not_provided
0.356660.33167HET Link to ClinVar
126294131826Benign/Likely_benignJoubert_syndrome
Meckel-Gruber_syndrome
Meckel_syndrome_type_8
not_specified
not_provided
0.357720.33606HET Link to ClinVar
126293131825Benignnot_specified
not_provided
0.426860.44549HET Link to ClinVar
671913666302Benignnot_provided..HET Link to ClinVar
672252666551Benignnot_provided..HET Link to ClinVar
126282131814BenignMeckel_syndrome_type_8
not_specified
0.428130.44549HET Link to ClinVar
671926666306Benignnot_provided..HET Link to ClinVar
126283131815BenignJoubert_syndrome
Meckel-Gruber_syndrome
Meckel_syndrome_type_8
not_specified
not_provided
0.438740.48223HET Link to ClinVar
675016666310Benignnot_provided..HET Link to ClinVar
126284131816Benignnot_specified
not_provided
0.325990.27217HET Link to ClinVar
672253666107Benignnot_provided..HET Link to ClinVar
126285131817Benign/Likely_benignJoubert_syndrome
Meckel-Gruber_syndrome
Meckel_syndrome_type_8
not_specified
not_provided
0.325520.27236HET Link to ClinVar
675018666313Benignnot_provided..HET Link to ClinVar
672255666115Benignnot_provided..HET Link to ClinVar
672256666562Benignnot_provided..HET Link to ClinVar
671927666321Benignnot_provided..HET Link to ClinVar
307564316270Benign/Likely_benignJoubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive
.0.21685HET Link to ClinVar
307567323625BenignJoubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive
..HET Link to ClinVar
307569331039Benign/Likely_benignJoubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive
.0.27217HET Link to ClinVar
676231666144Benignnot_provided..HET Link to ClinVar
307573316275Benign/Likely_benignJoubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive
.0.27217HET Link to ClinVar
95515101414Benign/Likely_benignJoubert_syndrome
Meckel-Gruber_syndrome
Cutis_laxa,_recessive
not_specified
0.482510.27217HET Link to ClinVar
95523101422BenignCutis_laxa,_recessive
not_specified
0.679240.751HET Link to ClinVar
95524101423BenignCutis_laxa,_recessive
not_specified
0.675630.7498HET Link to ClinVar
95525101424BenignCutis_laxa,_recessive
not_specified
0.675590.7498HET Link to ClinVar
683167665490Benignnot_provided..HET Link to ClinVar
260260254452Benignnot_specified.0.67991HET Link to ClinVar
95520101419BenignCutis_laxa,_recessive
not_specified
0.69340.79952HET Link to ClinVar
683169665492Benignnot_provided..HOM Link to ClinVar
95521101420Benign/Likely_benignALG9_congenital_disorder_of_glycosylation
Cutis_laxa,_recessive
not_specified
0.028350.01478HET Link to ClinVar
307610331090BenignCutis_laxa,_recessive.0.61761HET Link to ClinVar
307618316294BenignCutis_laxa,_recessive.0.79153HET Link to ClinVar
307642316304BenignCutis_laxa,_recessive.0.60663HET Link to ClinVar
402611390121Benignnot_specified0.663210.71326HOM Link to ClinVar
402612389988Benignnot_specified0.913340.96306HOM Link to ClinVar
402613390038Benignnot_specified0.670250.80132HOM Link to ClinVar
781702713405Benignnot_provided..HET Link to ClinVar
402614390123Benignnot_specified0.729370.83786HOM Link to ClinVar
402615390127Benignnot_specified.0.78614HOM Link to ClinVar
402621390129Benignnot_specified0.305530.33566HET Link to ClinVar
402622389996Benignnot_specified0.300880.35803HET Link to ClinVar
402624390002Benignnot_specified0.172670.20847HET Link to ClinVar
402625390133Benignnot_specified0.374110.26058HOM Link to ClinVar
253091247502PathogenicHigh_density_lipoprotein_cholesterol_level_quantitative_trait_locus_60.00065.HET Link to ClinVar
768597702205Benignnot_provided..HOM Link to ClinVar
769836702216Benignnot_provided..HET Link to ClinVar
307697323783BenignMitochondrial_myopathy_and_sideroblastic_anemia
not_provided
.0.1274HET Link to ClinVar
683630665502Benignnot_provided..HET Link to ClinVar
683631666180Benignnot_provided..HOM Link to ClinVar
226985230275Benign/Likely_benignnot_specified
not_provided
0.029010.00938HET Link to ClinVar
676504665511Benignnot_provided..HET Link to ClinVar
380211374780Benignnot_specified
not_provided
0.971170.98383HOM Link to ClinVar
439266432724Benign/Likely_benignHereditary_cancer-predisposing_syndrome
not_specified
not_provided
..HET Link to ClinVar
380209373073Benignnot_specified
not_provided
.0.57169HOM Link to ClinVar
679673666617Benignnot_provided..HOM Link to ClinVar
676491666621Benignnot_provided..HOM Link to ClinVar
676488666220Benignnot_provided..HOM Link to ClinVar
676489666369Benignnot_provided..HOM Link to ClinVar
676486666222Benignnot_provided..HOM Link to ClinVar
679670666374Benignnot_provided..HOM Link to ClinVar
380208373095Benignnot_specified
not_provided
0.490140.37879HOM Link to ClinVar
311285335443BenignZonular_Pulverulent_Cataract..HOM Link to ClinVar
311296319093BenignZonular_Pulverulent_Cataract.0.95407HOM Link to ClinVar
311298327537BenignZonular_Pulverulent_Cataract.0.97923HOM Link to ClinVar
311308327539BenignZonular_Pulverulent_Cataract.0.27137HOM Link to ClinVar
311312335505Likely_benignZonular_Pulverulent_Cataract.0.00919HET Link to ClinVar
311319335528BenignZonular_Pulverulent_Cataract.0.97804HOM Link to ClinVar
311322335530Likely_benignZonular_Pulverulent_Cataract.0.00919HET Link to ClinVar
311327319109BenignZonular_Pulverulent_Cataract.0.24101HOM Link to ClinVar
311329335534BenignZonular_Pulverulent_Cataract..HOM Link to ClinVar
261459254822Benignnot_specified
Zonular_Pulverulent_Cataract
not_provided
0.986760.96486HOM Link to ClinVar
311353335544BenignMutilating_keratoderma
Hystrix-like_ichthyosis_with_deafness
Keratitis_ichthyosis_and_deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.9972HOM Link to ClinVar
311356327575BenignMutilating_keratoderma
Hystrix-like_ichthyosis_with_deafness
Keratitis_ichthyosis_and_deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.89337HOM Link to ClinVar
311357333862BenignMutilating_keratoderma
Hystrix-like_ichthyosis_with_deafness
Keratitis_ichthyosis_and_deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.87021HOM Link to ClinVar
3627744941BenignMutilating_keratoderma
Hystrix-like_ichthyosis_with_deafness
Deafness,_autosomal_recessive_1A
Keratitis_ichthyosis_and_deafness_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.6867HET Link to ClinVar
4473953906BenignDeafness,_autosomal_recessive_1A
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
not_provided
0.014590.03095HET Link to ClinVar
3627944943BenignDeafness,_autosomal_recessive_1A
Deafness,_autosomal_dominant_3a
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.045380.07189HET Link to ClinVar
311376333878Likely_benignHidrotic_ectodermal_dysplasia_syndrome
Nonsyndromic_Hearing_Loss,_Dominant
Nonsyndromic_Hearing_Loss,_Recessive
.0.25479HET Link to ClinVar
402965390036Benignnot_specified0.132080.12999HET Link to ClinVar
402966390156Benignnot_specified0.76020.76478HET Link to ClinVar
402967390163Benignnot_specified0.760040.76478HET Link to ClinVar
311416333898BenignSymphalangism-brachydactyly_syndrome..HET Link to ClinVar
311421327654BenignSymphalangism-brachydactyly_syndrome0.321450.25339HET Link to ClinVar
311424333908BenignSymphalangism-brachydactyly_syndrome.0.83247HET Link to ClinVar
311426319176BenignSymphalangism-brachydactyly_syndrome0.994820.98183HOM Link to ClinVar
311478335624Likely_benignSevere_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.1252HET Link to ClinVar
684354667089Benignnot_provided..HOM Link to ClinVar
678210666995Benignnot_provided..HOM Link to ClinVar
9265498561BenignSevere_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.434260.52476HOM Link to ClinVar
670553666264Benignnot_provided..HET Link to ClinVar
684357667097Benignnot_provided..HET Link to ClinVar
670065667021Benignnot_provided..HET Link to ClinVar
9265798564Benign/Likely_benignSevere_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.674420.62979HET Link to ClinVar
167681178066BenignSevere_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
.0.8778HET Link to ClinVar
288428272665Benign/Likely_benignSevere_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type
Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.35024HET Link to ClinVar
130201135648Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided
0.277970.25839HET Link to ClinVar
130200135647BenignSpastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided
0.995670.98542HOM Link to ClinVar
130199135646Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided
0.277790.25899HET Link to ClinVar
130205135652Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided
.0.25919HET Link to ClinVar
130203135650Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided
0.280910.25998HET Link to ClinVar
240895241631BenignSpastic_paraplegia
Spastic_ataxia_Charlevoix-Saguenay_type
not_specified
not_provided
0.023320.00819HET Link to ClinVar
260389254843Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type
not_specified
.0.3111HET Link to ClinVar
769844702636Benignnot_provided..HET Link to ClinVar
768604778271Benignnot_provided..HET Link to ClinVar
311588335746BenignSeckel_syndrome
Primary_Microcephaly,_Recessive
.0.32388HET Link to ClinVar
311597327860BenignSeckel_syndrome
Primary_Microcephaly,_Recessive
.0.15435HET Link to ClinVar
311598335797BenignSeckel_syndrome
Primary_Microcephaly,_Recessive
.0.13498HET Link to ClinVar
678327667110Benignnot_provided..HOM Link to ClinVar
158213169016BenignSeckel_syndrome
not_specified
Primary_Microcephaly,_Recessive
..HOM Link to ClinVar
158212169017Benignnot_specified
not_provided
0.806620.7482HOM Link to ClinVar
668064667360Benignnot_provided..HOM Link to ClinVar
680183667366Benignnot_provided..HET Link to ClinVar
158208169021BenignSeckel_syndrome
not_specified
Primary_Microcephaly,_Recessive
not_provided
0.803580.73722HOM Link to ClinVar
158207169022BenignSeckel_syndrome
not_specified
Primary_Microcephaly,_Recessive
not_provided
0.539450.48403HOM Link to ClinVar
668063666271Benignnot_provided..HET Link to ClinVar
678325666275Benignnot_provided..HOM Link to ClinVar
680180666278Benignnot_provided..HET Link to ClinVar
673928667023Benignnot_provided..HET Link to ClinVar
678324667027Benignnot_provided..HOM Link to ClinVar
2166634518BenignSeckel_syndrome
Primary_autosomal_recessive_microcephaly_6
Seckel_syndrome_1
not_specified
Primary_Microcephaly,_Recessive
.0.15515HET Link to ClinVar
128488133937Likely_benignnot_specified0.191310.20407HET Link to ClinVar
128489133938Likely_benignnot_specified0.628660.53634HOM Link to ClinVar
128490133939Likely_benignnot_specified0.997260.98742HOM Link to ClinVar
311641319355Likely_benignTreacher_Collins_Syndrome,_Dominant.0.08087HET Link to ClinVar
311646334181Likely_benignTreacher_Collins_Syndrome,_Dominant.0.002HET Link to ClinVar
669733666284Benignnot_provided..HET Link to ClinVar
683833667116Benignnot_provided..HET Link to ClinVar
673552667377Benignnot_provided..HET Link to ClinVar
134447138186not_providednot_specified0.598780.55871HET Link to ClinVar
162173171886not_providednot_provided.0.20088HET Link to ClinVar
96626102519Benignnot_specified0.36170.2476HET Link to ClinVar
96628102521Benignnot_specified
not_provided
0.982760.97544HOM Link to ClinVar
96624102517Benignnot_specified
not_provided
0.742460.66673HOM Link to ClinVar
209598205808BenignBreast-ovarian_cancer,_familial_2.0.15955HET Link to ClinVar
209930205811BenignBreast-ovarian_cancer,_familial_2.0.74121HET Link to ClinVar
209606205817BenignBreast-ovarian_cancer,_familial_2.0.25839HOM Link to ClinVar
209931205823BenignBreast-ovarian_cancer,_familial_2.0.97424HOM Link to ClinVar
209623205837BenignBreast-ovarian_cancer,_familial_2.0.04912HET Link to ClinVar
209934205843BenignBreast-ovarian_cancer,_familial_2.0.97424HOM Link to ClinVar
209935205863BenignBreast-ovarian_cancer,_familial_2.0.97384HOM Link to ClinVar
264863259427BenignBreast-ovarian_cancer,_familial_2..HOM Link to ClinVar
209936205884BenignBreast-ovarian_cancer,_familial_2.0.97404HOM Link to ClinVar
932924368BenignBreast_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
0.277930.2494HOM Link to ClinVar
209937205894BenignBreast-ovarian_cancer,_familial_2.0.97404HOM Link to ClinVar
132779136527BenignHereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
not_provided
.0.97404HOM Link to ClinVar
132780136528BenignHereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
not_provided
.0.97364HOM Link to ClinVar
264926259450BenignBreast-ovarian_cancer,_familial_2..HOM Link to ClinVar
209938205931BenignBreast-ovarian_cancer,_familial_2
not_specified
.0.97404HOM Link to ClinVar
209714205936BenignBreast-ovarian_cancer,_familial_2.0.42332HOM Link to ClinVar
209939205938BenignBreast-ovarian_cancer,_familial_2
not_specified
.0.97404HOM Link to ClinVar
209738205961BenignBreast-ovarian_cancer,_familial_2.0.2482HOM Link to ClinVar
209747205970BenignBreast-ovarian_cancer,_familial_2.0.03714HET Link to ClinVar
209940205977BenignBreast-ovarian_cancer,_familial_2.0.97584HOM Link to ClinVar
133738137477BenignDuctal_breast_carcinoma
Breast-ovarian_cancer,_familial_2
not_specified
not_provided
0.993720.97584HOM Link to ClinVar
264968259469BenignBreast-ovarian_cancer,_familial_2.0.9986HOM Link to ClinVar
209763205988BenignBreast-ovarian_cancer,_familial_2.0.4409HOM Link to ClinVar
209942205991BenignBreast-ovarian_cancer,_familial_2.0.97624HOM Link to ClinVar
209783206009BenignBreast-ovarian_cancer,_familial_2.0.21046HET Link to ClinVar
209788206014BenignBreast-ovarian_cancer,_familial_2.0.22065HET Link to ClinVar
264906259489BenignBreast-ovarian_cancer,_familial_2.0.22404HET Link to ClinVar
209821206049BenignBreast-ovarian_cancer,_familial_2.0.20887HET Link to ClinVar
209945206051BenignBreast-ovarian_cancer,_familial_2.0.97604HOM Link to ClinVar
209946206053BenignBreast-ovarian_cancer,_familial_2.0.97604HOM Link to ClinVar
209950206082BenignBreast-ovarian_cancer,_familial_2.0.97664HOM Link to ClinVar
209850206084BenignBreast-ovarian_cancer,_familial_2.0.00559HET Link to ClinVar
209858206093BenignBreast-ovarian_cancer,_familial_2.0.22804HET Link to ClinVar
209867206102BenignBreast-ovarian_cancer,_familial_2.0.02636HET Link to ClinVar
209870206106BenignBreast-ovarian_cancer,_familial_2.0.20927HET Link to ClinVar
209872206108BenignBreast-ovarian_cancer,_familial_2.0.22863HET Link to ClinVar
264910259515BenignBreast-ovarian_cancer,_familial_2.0.97664HOM Link to ClinVar
209878206116BenignBreast-ovarian_cancer,_familial_2.0.01138HET Link to ClinVar
264867259517BenignBreast-ovarian_cancer,_familial_2..HOM Link to ClinVar
209884206125BenignBreast-ovarian_cancer,_familial_2.0.05112HET Link to ClinVar
209891206133BenignBreast-ovarian_cancer,_familial_2.0.16034HET Link to ClinVar
209893206135BenignBreast-ovarian_cancer,_familial_2.0.22824HET Link to ClinVar
209959206136BenignBreast-ovarian_cancer,_familial_2.0.97664HOM Link to ClinVar
209902206145BenignBreast-ovarian_cancer,_familial_2.0.15994HET Link to ClinVar
209903206147BenignBreast-ovarian_cancer,_familial_2.0.16014HET Link to ClinVar
209911206157BenignBreast-ovarian_cancer,_familial_2.0.16014HET Link to ClinVar
209917206163BenignBreast-ovarian_cancer,_familial_2.0.21006HET Link to ClinVar
209964206167BenignBreast-ovarian_cancer,_familial_2.0.97684HOM Link to ClinVar
125927131465BenignHereditary_breast_and_ovarian_cancer_syndrome
Fanconi_anemia
Breast-ovarian_cancer,_familial_2
not_specified
.0.16074HET Link to ClinVar
311680334231BenignTumoral_calcinosis,_hyperphosphatemic,_familial
not_specified
0.986520.94409HOM Link to ClinVar
311701319386BenignTumoral_calcinosis,_hyperphosphatemic,_familial0.80360.71086HET Link to ClinVar
311705334253BenignTumoral_calcinosis,_hyperphosphatemic,_familial0.991860.97624HOM Link to ClinVar
311724334285Likely_benignTumoral_calcinosis,_hyperphosphatemic,_familial.0.01258HET Link to ClinVar
311757336031BenignTroyer_syndrome.0.98902HOM Link to ClinVar
311793319478BenignBare_lymphocyte_syndrome_2..HOM Link to ClinVar
311796328029Likely_benignBare_lymphocyte_syndrome_2.0.00938HET Link to ClinVar
311797336079BenignBare_lymphocyte_syndrome_2.0.79613HOM Link to ClinVar
311802328035Likely_benignBare_lymphocyte_syndrome_2.0.14137HET Link to ClinVar
311809319497BenignPrimary_pulmonary_hypertension.0.11442HET Link to ClinVar
311810319502BenignPrimary_pulmonary_hypertension.0.32089HET Link to ClinVar
311832336116BenignPrimary_pulmonary_hypertension..HET Link to ClinVar
311838319534BenignPrimary_pulmonary_hypertension..HET Link to ClinVar
311839334428BenignPrimary_pulmonary_hypertension.0.43011HET Link to ClinVar
311883334468BenignPrimary_pulmonary_hypertension..HET Link to ClinVar
675286667127Benignnot_provided..HET Link to ClinVar
672486667034Benignnot_provided..HOM Link to ClinVar
683862667035Benignnot_provided..HOM Link to ClinVar
802960791343BenignPontocerebellar_hypoplasia,_type_1c..HET Link to ClinVar
263299254848BenignFraser_syndrome_1
not_specified
0.999971HOM Link to ClinVar
193535190699BenignFraser_syndrome_1
not_specified
0.190330.08427HET Link to ClinVar
193536190700BenignFraser_syndrome_1
not_specified
0.999971HOM Link to ClinVar
263300254849BenignFraser_syndrome_1
not_specified
0.739770.77197HOM Link to ClinVar
263301254850BenignFraser_syndrome_1
not_specified
0.373370.4367HET Link to ClinVar
312045328237BenignFraser_syndrome_1.0.32628HET Link to ClinVar
312052336408BenignFraser_syndrome_1.0.43391HET Link to ClinVar
312065334678BenignFraser_syndrome_1.0.43391HET Link to ClinVar
312075328254BenignFraser_syndrome_1.0.29872HET Link to ClinVar
312078336428BenignFraser_syndrome_1.0.30371HET Link to ClinVar
312080328262BenignFraser_syndrome_1.0.30371HET Link to ClinVar
312087328264BenignFraser_syndrome_1.0.7474HOM Link to ClinVar
312089328272BenignFraser_syndrome_1.0.29872HET Link to ClinVar
312093319727BenignFraser_syndrome_1.0.30871HET Link to ClinVar
312099319745BenignFraser_syndrome_1.0.7504HOM Link to ClinVar
312101319746BenignFraser_syndrome_1.0.30851HET Link to ClinVar
312104319751BenignFraser_syndrome_1.0.43411HET Link to ClinVar
312106336477BenignFraser_syndrome_1.0.46446. Link to ClinVar
312111336493BenignFraser_syndrome_1..HOM Link to ClinVar
312113328287BenignFraser_syndrome_1.0.43431HET Link to ClinVar
312116328291BenignFraser_syndrome_1.0.25719HET Link to ClinVar
193435190599Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
..HET Link to ClinVar
193436190600BenignCongenital_disorder_of_glycosylation
not_specified
.0.48443HET Link to ClinVar
193437190601BenignCongenital_disorder_of_glycosylation
not_specified
0.513150.48423HET Link to ClinVar
312139336505Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.259880.29553HET Link to ClinVar
312153328314BenignCongenital_disorder_of_glycosylation0.514660.46645HET Link to ClinVar
312159334793BenignCongenital_disorder_of_glycosylation0.443610.27596HET Link to ClinVar
312160328326BenignCongenital_disorder_of_glycosylation..HET Link to ClinVar
312168319824BenignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome.0.57728HOM Link to ClinVar
683871667130Benignnot_provided..HET Link to ClinVar
139125142828Benign/Likely_benignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome
not_specified
0.079320.0629HET Link to ClinVar
672018667132Benignnot_provided..HET Link to ClinVar
139126142829Benign/Likely_benignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome
not_specified
0.095510.11342HET Link to ClinVar
672019667040Benignnot_provided..HET Link to ClinVar
139127142830BenignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome
not_specified
0.372480.32268HET Link to ClinVar
674052667391Benignnot_provided..HET Link to ClinVar
672020667044Benignnot_provided..HET Link to ClinVar
683874667046Benignnot_provided..HET Link to ClinVar
312187336595BenignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome.0.42372HET Link to ClinVar
312189319839BenignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome.0.42372HET Link to ClinVar
312190336610BenignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome.0.42372HET Link to ClinVar
312197336614Likely_benignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome.0.05292HET Link to ClinVar
312204319871Likely_benignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome.0.04213HET Link to ClinVar
312209334838BenignHyperornithinemia-hyperammonemia-homocitrullinuria_syndrome.0.23163HET Link to ClinVar
312222328402BenignOsteopetrosis.0.9988HOM Link to ClinVar
193257190421BenignOsteopetrosis
not_specified
0.523630.46546HET Link to ClinVar
195202192363BenignOsteopetrosis
not_specified
0.811520.78834HOM Link to ClinVar
312243319888BenignOsteopetrosis.0.99461HOM Link to ClinVar
312251319894BenignOsteopetrosis.0.33287HET Link to ClinVar
226025227777drug_responseMajor_depressive_disorder,_response_to_citalopram_therapy_in
not_specified
antidepressants_response_-_Efficacy
citalopram_response_-_Efficacy
Selective_serotonin_reuptake_inhibitors_response_-_Efficacy
.0.72724HOM Link to ClinVar
511089504274Likely_benignnot_specified0.407150.44129HET Link to ClinVar
511090504813Likely_benignnot_specified.0.44349HET Link to ClinVar
312254319895Likely_benignMitochondrial_DNA_depletion_syndrome.0.08227HET Link to ClinVar
312259328423Likely_benignMitochondrial_DNA_depletion_syndrome.0.08247HET Link to ClinVar
312262319904BenignMitochondrial_DNA_depletion_syndrome.0.94189HOM Link to ClinVar
672631667394Benignnot_provided..HET Link to ClinVar
676449667140Benignnot_provided..HET Link to ClinVar
672630666299Benignnot_provided..HET Link to ClinVar
684103666305Benignnot_provided..HOM Link to ClinVar
671130667146Benignnot_provided..HET Link to ClinVar
671617666307Benignnot_provided..HOM Link to ClinVar
671999667158Benignnot_provided..HET Link to ClinVar
670147666308Benignnot_provided..HOM Link to ClinVar
670146667169Benignnot_provided..HOM Link to ClinVar
139360143063BenignMitochondrial_DNA_depletion_syndrome
not_specified
not_provided
0.751550.68351HOM Link to ClinVar
676453667174Benignnot_provided..HET Link to ClinVar
139358143061BenignMitochondrial_DNA_depletion_syndrome
not_specified
not_provided
0.751520.68351HOM Link to ClinVar
676421666315Benignnot_provided..HOM Link to ClinVar
671225667177Benignnot_provided..HET Link to ClinVar
670145666317Benignnot_provided..HOM Link to ClinVar
676448667072Benignnot_provided..HET Link to ClinVar
684102667395Benignnot_provided..HOM Link to ClinVar
255825254854Benignnot_specified0.960750.91374HOM Link to ClinVar
255823254858Benignnot_specified0.955210.88498HOM Link to ClinVar
312343319950BenignWilson_disease.0.52396HET Link to ClinVar
680486666319Benignnot_provided..HET Link to ClinVar
254770254860Benignnot_specified
not_provided
0.560710.53175HET Link to ClinVar
3572744391Benign/Likely_benignWilson_disease
not_specified
not_provided
0.537380.5018HET Link to ClinVar
680485667078Benignnot_provided..HET Link to ClinVar
3572044384BenignWilson_disease
not_specified
0.565260.54054HET Link to ClinVar
680483666326Benignnot_provided..HET Link to ClinVar
680484667405Benignnot_provided..HET Link to ClinVar
3571344377Benign/Likely_benignWilson_disease
not_specified
0.058020.02496HET Link to ClinVar
3570944373Benign/Likely_benignWilson_disease
not_specified
0.071990.11362HET Link to ClinVar
3570844372BenignWilson_disease
not_specified
0.562690.53095HET Link to ClinVar
3570744371BenignWilson_disease
not_specified
0.538440.5024HET Link to ClinVar
680481667187Benignnot_provided..HET Link to ClinVar
676098667410Benignnot_provided..HET Link to ClinVar
312405336917BenignWilson_disease
Congenital_disorder_of_glycosylation
not_specified
not_provided
.0.51677HET Link to ClinVar
538871528164BenignCongenital_disorder_of_glycosylation_type_1P
not_specified
not_provided
.0.07288HET Link to ClinVar
487323463943Likely_benignnot_provided.0.02196HET Link to ClinVar
312422335052BenignCongenital_disorder_of_glycosylation0.647850.58127HET Link to ClinVar
312423320003Likely_benignCongenital_disorder_of_glycosylation0.111990.08007HET Link to ClinVar
312426320004BenignCongenital_disorder_of_glycosylation0.628810.51058HET Link to ClinVar
517823504304Benignnot_specified0.204120.14697HET Link to ClinVar
508094504579BenignAuditory_neuropathy,_autosomal_dominant,_1
not_specified
.0.92911HOM Link to ClinVar
508609505207Benignnot_specified
not_provided
0.026870.01198HET Link to ClinVar
683133656213Benignnot_provided..HET Link to ClinVar
130861136305Likely_benignnot_specified0.083230.17432HET Link to ClinVar
212373208052Benignnot_specified..HET Link to ClinVar
130552135998Likely_benignnot_specified0.081980.03634HET Link to ClinVar
130550135996Likely_benignnot_specified0.491070.36921HOM Link to ClinVar
130549135995Likely_benignnot_specified0.825640.71186HOM Link to ClinVar
130548135994Likely_benignnot_specified0.357490.22604HET Link to ClinVar
130556136002Likely_benignnot_specified.0.99521HOM Link to ClinVar
130551135997Likely_benignnot_specified0.09670.11102HET Link to ClinVar
789220713972Benignnot_provided..HET Link to ClinVar
670727666343Benignnot_provided..HOM Link to ClinVar
95396101295Benign/Likely_benignSeizures
Neuronal_ceroid_lipofuscinosis
not_specified
Neuronal_Ceroid-Lipofuscinosis,_Dominant/Recessive
not_provided
0.026930.01298HET Link to ClinVar
768620702735Benignnot_provided..HOM Link to ClinVar
768621702736Benignnot_provided..HOM Link to ClinVar
226622230450BenignWaardenburg_syndrome
not_specified
Hirschsprung_Disease,_Recessive
0.57990.54473HET Link to ClinVar
226625230453Benignnot_specified0.994880.98383HOM Link to ClinVar
506089497033Benignnot_specified0.721030.75HET Link to ClinVar
312529337079BenignOmodysplasia.0.39357HOM Link to ClinVar
312547320094BenignOmodysplasia_1
Omodysplasia
0.210570.17093HET Link to ClinVar
312560328645BenignOmodysplasia..HET Link to ClinVar
312577335285BenignOmodysplasia.0.1891HET Link to ClinVar
312598337158BenignOmodysplasia.0.1899HET Link to ClinVar
312602328704BenignOmodysplasia.0.88139HET Link to ClinVar
225959227778drug_responsetenofovir_response_-_Metabolism/PK0.812140.79433HOM Link to ClinVar
402794390093Benignnot_specified0.044820.03015HET Link to ClinVar
95446101345Benignnot_specified0.079920.04173HET Link to ClinVar
669662667117Benignnot_provided..HET Link to ClinVar
669947667042Benignnot_provided..HET Link to ClinVar
669953666225Benignnot_provided..HET Link to ClinVar
9276598672BenignPropionyl-CoA_carboxylase_deficiency
not_specified
not_provided
0.977020.91594HOM Link to ClinVar
255734254773Benignnot_specified0.696620.55272HOM Link to ClinVar
676165666233Benignnot_provided..HET Link to ClinVar
262253254785Benignnot_specified
not_provided
0.008640.00399HET Link to ClinVar
262252254786Benignnot_specified0.490990.52177HET Link to ClinVar
262250254788Benignnot_specified0.28580.19229HET Link to ClinVar
310903333317BenignXeroderma_pigmentosum.0.6889HOM Link to ClinVar
310904318811BenignXeroderma_pigmentosum.0.29792HET Link to ClinVar
129009134455BenignXeroderma_pigmentosum
Xeroderma_pigmentosum,_group_G
not_specified
0.52910.49301HET Link to ClinVar
255161254793BenignXeroderma_pigmentosum
Xeroderma_pigmentosum,_group_G
not_specified
0.45130.31709HET Link to ClinVar
134172137911BenignXeroderma_pigmentosum,_group_G
not_specified
.0.9982HOM Link to ClinVar
134173137912not_providednot_specified.0.9972HOM Link to ClinVar
129011134457BenignXeroderma_pigmentosum
Xeroderma_pigmentosum,_group_G
not_specified
0.277680.36142HET Link to ClinVar
310945318841BenignXeroderma_pigmentosum.0.54952HET Link to ClinVar
403446390031Benignnot_specified0.860990.84026HOM Link to ClinVar
310948318850Likely_benignLig4_syndrome
Severe_combined_immunodeficiency_with_sensitivity_to_ionizing_radiation
.0.12979HET Link to ClinVar
882023859risk_factorDIABETES,_TYPE_II,_SUSCEPTIBILITY_TO0.382050.28335HET Link to ClinVar
768633702582Likely_benignnot_provided..HET Link to ClinVar
258255254798BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
0.375590.30791HOM Link to ClinVar
197520194681BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
.0.28834HOM Link to ClinVar
258251254801BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
0.35150.31789HET Link to ClinVar
258250254802BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
.0.31809HET Link to ClinVar
258249254803BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
0.347680.30711HET Link to ClinVar
258248254804Benignnot_specified0.115250.08167HET Link to ClinVar
258247254805BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
11HOM Link to ClinVar
258266254807Benignnot_specified0.619330.59345HOM Link to ClinVar
258265254808BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
0.622240.59645HOM Link to ClinVar
258262254810BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
0.621050.59605HOM Link to ClinVar
258261254811BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
.0.86122HOM Link to ClinVar
258254254813BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
0.467230.47284HOM Link to ClinVar
198472195633Benign/Likely_benignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
not_provided
0.007190.00659HET Link to ClinVar
258264254814BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
0.190720.1899HET Link to ClinVar
193216190381BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
not_specified
0.482360.42412HET Link to ClinVar
311087335235BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
.0.248HET Link to ClinVar
311089333543BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
.0.61502HET Link to ClinVar
311090327337BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
.0.30891HET Link to ClinVar
311091327338BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
.0.50939HET Link to ClinVar
311092333546BenignPorencephalic_cyst
Angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps
Brain_small_vessel_disease_with_hemorrhage
.0.30611HET Link to ClinVar
311096335259BenignPorencephalic_cyst0.961350.94269HOM Link to ClinVar
311117333580BenignPorencephalic_cyst
not_provided
0.513720.48283HET Link to ClinVar
311119333585BenignPorencephalic_cyst
not_provided
0.314430.23862HET Link to ClinVar
311120318936BenignPorencephalic_cyst
not_provided
0.338240.24681HET Link to ClinVar
311128333595BenignPorencephalic_cyst
not_provided
0.528830.49141HOM Link to ClinVar
311129333604BenignPorencephalic_cyst
not_provided
0.538950.50919HOM Link to ClinVar
311134333615BenignPorencephalic_cyst
not_provided
0.538330.51398HOM Link to ClinVar
311145318982BenignPorencephalic_cyst
not_provided
0.255390.1909HOM Link to ClinVar
311151335312BenignPorencephalic_cyst
not_provided
0.310030.24641HET Link to ClinVar
311153327386BenignPorencephalic_cyst
not_provided
0.156960.1258HET Link to ClinVar
311171333642BenignPorencephalic_cyst
not_provided
.0.1863HET Link to ClinVar
311180333651BenignPorencephalic_cyst
not_provided
0.832910.752HOM Link to ClinVar
311183319027BenignPorencephalic_cyst
not_provided
0.100980.10084HET Link to ClinVar
311188335349Likely_benignPorencephalic_cyst0.001350.00559HET Link to ClinVar
311190327437Benign/Likely_benignPorencephalic_cyst
not_provided
0.001360.00559HET Link to ClinVar
311200327453BenignPorencephalic_cyst.0.46625HET Link to ClinVar
311201335357BenignPorencephalic_cyst..HET Link to ClinVar
683459666983Benignnot_provided..HOM Link to ClinVar
683458667067Benignnot_provided..HOM Link to ClinVar
683456667070Benignnot_provided..HOM Link to ClinVar
683455666992Benignnot_provided..HOM Link to ClinVar
379949372639Benignnot_specified0.80220.76238HOM Link to ClinVar
683447667351Benignnot_provided..HOM Link to ClinVar
256307254819Benignnot_specified0.83590.80272HOM Link to ClinVar
256308254820BenignFactor_X_deficiency
not_specified
.0.6232HOM Link to ClinVar
138729142432Benign/Likely_benignPurine-nucleoside_phosphorylase_deficiency
not_specified
0.16640.17213HET Link to ClinVar
1399229031BenignNUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM
Purine-nucleoside_phosphorylase_deficiency
not_specified
0.191960.20467HET Link to ClinVar
138730142433Benign/Likely_benignPurine-nucleoside_phosphorylase_deficiency
not_specified
0.193240.20447HET Link to ClinVar
312730320249BenignPurine-nucleoside_phosphorylase_deficiency
not_specified
0.194330.20228HET Link to ClinVar
312745328812BenignPurine-nucleoside_phosphorylase_deficiency.0.97744HOM Link to ClinVar
312749335445Likely_benignPurine-nucleoside_phosphorylase_deficiency.0.03714HET Link to ClinVar
312750328815Likely_benignPurine-nucleoside_phosphorylase_deficiency.0.17033HET Link to ClinVar
312751337323Likely_benignPurine-nucleoside_phosphorylase_deficiency.0.20527HET Link to ClinVar
312758328851BenignPurine-nucleoside_phosphorylase_deficiency.0.32228HET Link to ClinVar
312768320277Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant.0.09784HET Link to ClinVar
99827105716BenignLeber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided
0.548010.47724HET Link to ClinVar
498720026Benign/Likely_benignLeber_congenital_amaurosis
Cone-rod_dystrophy_13
Leber_congenital_amaurosis_1
not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided
0.210490.16733HET Link to ClinVar
99812105701Benign/Likely_benignLeber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Recessive
not_provided
0.212580.1847HET Link to ClinVar
261227254910Benign/Likely_benignLeber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Recessive
0.197150.14517HET Link to ClinVar
261228254911BenignLeber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Recessive
0.337310.29533HET Link to ClinVar
587786579920BenignHistory_of_neurodevelopmental_disorder0.909260.90735HOM Link to ClinVar
403461390596Benignnot_specified..HET Link to ClinVar
139197142900BenignLysinuric_protein_intolerance
not_specified
0.86510.78554HET Link to ClinVar
684066667572Benignnot_provided..HET Link to ClinVar
380186373723BenignLysinuric_protein_intolerance
not_specified
0.012250.00419HET Link to ClinVar
139198142901BenignLysinuric_protein_intolerance
not_specified
0.60730.60603HET Link to ClinVar
684063666498Benignnot_provided..HET Link to ClinVar
312832337424BenignLysinuric_protein_intolerance0.529390.57808HET Link to ClinVar
312835335556Likely_benignLysinuric_protein_intolerance.0.11701HET Link to ClinVar
312838335564Likely_benignLysinuric_protein_intolerance.0.11701HET Link to ClinVar
258710254919Benignnot_specified0.495740.47165HET Link to ClinVar
3662845290Conflicting_interpretations_of_pathogenicityAtrial_septal_defect
Cardiomyopathy
Hypertrophic_cardiomyopathy
not_specified
Dilated_Cardiomyopathy,_Dominant
not_provided
..HET Link to ClinVar
4454453711Benign/Likely_benignAtrial_septal_defect
Hypertrophic_cardiomyopathy
not_specified
Dilated_Cardiomyopathy,_Dominant
0.756510.78494HET Link to ClinVar
188649186460Benign/Likely_benignHypertrophic_cardiomyopathy
Scapuloperoneal_myopathy
Left_ventricular_noncompaction_cardiomyopathy
Myosin_storage_myopathy
Myopathy,_distal,_1
not_specified
Dilated_Cardiomyopathy,_Dominant
0.004960.0014HET Link to ClinVar
667619667431Benignnot_provided..HET Link to ClinVar
4311652286BenignCardiomyopathy
Hypertrophic_cardiomyopathy
Scapuloperoneal_myopathy
Left_ventricular_noncompaction_cardiomyopathy
Myosin_storage_myopathy
Myopathy,_distal,_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided
0.020850.01458HET Link to ClinVar
4286952039BenignCardiomyopathy
Hypertrophic_cardiomyopathy
Scapuloperoneal_myopathy
Left_ventricular_noncompaction_cardiomyopathy
Myosin_storage_myopathy
Myopathy,_distal,_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided
0.488850.52037HET Link to ClinVar
312935335678Likely_benignRetinitis_Pigmentosa,_Dominant.0.41713HOM Link to ClinVar
803011791396BenignPhosphoenolpyruvate_carboxykinase_deficiency,_mitochondrial..HOM Link to ClinVar
769857702849Likely_benignnot_provided..HET Link to ClinVar
769858702850Benignnot_provided..HET Link to ClinVar
769859702851Benignnot_provided..HET Link to ClinVar
177681176082Benignnot_specified
not_provided
.0.21386HET Link to ClinVar
226525230521BenignDeafness,_autosomal_dominant_9
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.549150.41134HET Link to ClinVar
226528230525Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.065910.07169HET Link to ClinVar
669811667323Benignnot_provided..HOM Link to ClinVar
680071667452Benignnot_provided..HET Link to ClinVar
683212667453Benignnot_provided..HOM Link to ClinVar
683233666544Benignnot_provided..HOM Link to ClinVar
671489666547Benignnot_provided..HET Link to ClinVar
683234667455Benignnot_provided..HET Link to ClinVar
669937666548Benignnot_provided..HET Link to ClinVar
683237667460Benignnot_provided..HET Link to ClinVar
669941667648Benignnot_provided..HET Link to ClinVar
669526666554Benignnot_provided..HET Link to ClinVar
313032337651Likely_benignMitochondrial_complex_I_deficiency.0.0625HET Link to ClinVar
313046329185BenignMitochondrial_complex_I_deficiency.0.60503HET Link to ClinVar
313067337727BenignMitochondrial_complex_I_deficiency.0.48602HET Link to ClinVar
313068320435BenignMitochondrial_complex_I_deficiency.0.48602HET Link to ClinVar
313072329216BenignMitochondrial_complex_I_deficiency.0.4976HET Link to ClinVar
313079335822BenignNemaline_Myopathy,_Recessive0.246890.27596HET Link to ClinVar
313082320449BenignNemaline_Myopathy,_Recessive0.413040.34205HET Link to ClinVar
313083329225BenignNemaline_Myopathy,_Recessive..HOM Link to ClinVar
313088337734BenignNemaline_Myopathy,_Recessive0.246220.27616HET Link to ClinVar
313094329237BenignNemaline_Myopathy,_Recessive0.25630.3099HET Link to ClinVar
673808667337Benignnot_provided..HET Link to ClinVar
681265667658Benignnot_provided..HET Link to ClinVar
668881667664Benignnot_provided..HET Link to ClinVar
668071667472Benignnot_provided..HOM Link to ClinVar
679621835risk_factorMyocardial_infarction.0.1903HET Link to ClinVar
313105337761BenignEctodermal_dysplasia_and_immunodeficiency_2
not_provided
.0.45567HOM Link to ClinVar
313108329242BenignEctodermal_dysplasia_and_immunodeficiency_2
not_specified
0.40110.44788HOM Link to ClinVar
313117329256BenignEctodermal_dysplasia_and_immunodeficiency_2
not_specified
0.343090.24441HOM Link to ClinVar
313128335868Uncertain_significanceBenign_hereditary_chorea
Choreoathetosis,_hypothyroidism,_and_neonatal_respiratory_distress
... Link to ClinVar
313133320501BenignBenign_hereditary_chorea
Choreoathetosis,_hypothyroidism,_and_neonatal_respiratory_distress
.0.62181HET Link to ClinVar
313149329293BenignBenign_hereditary_chorea
Choreoathetosis,_hypothyroidism,_and_neonatal_respiratory_distress
.0.10803HET Link to ClinVar
313152337831Likely_benignSelective_tooth_agenesis..HET Link to ClinVar
313155337835Likely_benignSelective_tooth_agenesis.0.3762HET Link to ClinVar
259937254940Benign/Likely_benignSelective_tooth_agenesis
Tooth_agenesis,_selective,_3
not_specified
0.432490.33167HET Link to ClinVar
683729656251Benignnot_provided..HOM Link to ClinVar
261385254947Benign/Likely_benignFanconi_anemia
not_specified
0.025310.01298HET Link to ClinVar
261391254952Benign/Likely_benignFanconi_anemia
not_specified
.0.00859HET Link to ClinVar
313249320629BenignPrimary_ciliary_dyskinesia
Congenital_disorder_of_glycosylation
0.49350.29533HET Link to ClinVar
313270329433BenignPrimary_ciliary_dyskinesia
Congenital_disorder_of_glycosylation
.0.54153HET Link to ClinVar
163091175940BenignPrimary_ciliary_dyskinesia
Congenital_disorder_of_glycosylation
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided
0.4510.30871HET Link to ClinVar
261017254955Benignnot_specified0.63840.54193HET Link to ClinVar
95892101788BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided
0.648590.48822HET Link to ClinVar
95891101787BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided
0.613460.5591HET Link to ClinVar
95894101790BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided
0.652510.49341HET Link to ClinVar
95893101789BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_10
not_specified
not_provided
.0.49321HET Link to ClinVar
517059505456Benignnot_specified..HOM Link to ClinVar
561523552772Benignnot_provided.0.85383HOM Link to ClinVar
561524552774Benignnot_provided.0.53015HOM Link to ClinVar
561606552781Benignnot_provided.0.24141HOM Link to ClinVar
561604552786Benignnot_provided.0.84445HOM Link to ClinVar
561838552787Benignnot_provided.0.85344HOM Link to ClinVar
561605552788Benignnot_provided.0.2514HOM Link to ClinVar
561538552791Benignnot_provided.0.88478HOM Link to ClinVar
561518552792Benignnot_provided0.871620.85344HOM Link to ClinVar
561537552793Benignnot_provided.0.83387HOM Link to ClinVar
561603552794Benignnot_provided.0.85344HOM Link to ClinVar
561602552795Benignnot_provided.0.83387HOM Link to ClinVar
384710376065Benignnot_provided0.621450.51837HOM Link to ClinVar
561601552796Benignnot_provided.0.2472HOM Link to ClinVar
561632552800Likely_benignnot_provided..HET Link to ClinVar
561599552804Benignnot_provided0.871610.85304HOM Link to ClinVar
561871552806Benignnot_provided.0.52276HOM Link to ClinVar
561836552807Benignnot_provided.0.89317HOM Link to ClinVar
561597552808Benignnot_provided.0.99481HOM Link to ClinVar
561531552812Benignnot_provided.0.89257HOM Link to ClinVar
561868552824Benignnot_provided.0.2472HOM Link to ClinVar
561835552825Benignnot_provided.0.83706HOM Link to ClinVar
561593552827Benignnot_provided..HOM Link to ClinVar
561541552830Benignnot_provided.0.53614HOM Link to ClinVar
561590552832Benignnot_provided.0.85204HOM Link to ClinVar
561865552834Benignnot_provided.0.248HOM Link to ClinVar
561519552835Benignnot_provided0.883280.85783HOM Link to ClinVar
383779376072Benignnot_provided0.343720.24201HOM Link to ClinVar
158797169064Likely_benignnot_specified0.437670.41713HET Link to ClinVar
158801169066Likely_benignnot_specified0.539590.50479HOM Link to ClinVar
158798169068Benign/Likely_benignnot_specified
not_provided
0.57010.59665HOM Link to ClinVar
158799169070Benign/Likely_benignnot_specified
not_provided
0.599910.57268HOM Link to ClinVar
678056666568Benignnot_provided..HOM Link to ClinVar
678057667341Benignnot_provided..HOM Link to ClinVar
2153034382BenignSpastic_paraplegia_3
not_specified
Spastic_paraplegia,_autosomal_dominant
not_provided
0.763270.82149HET Link to ClinVar
678058667345Benignnot_provided..HET Link to ClinVar
670498667348Benignnot_provided..HET Link to ClinVar
670499667481Benignnot_provided..HET Link to ClinVar
678059666571Benignnot_provided..HET Link to ClinVar
668735666574Benignnot_provided..HET Link to ClinVar
670500667665Benignnot_provided..HET Link to ClinVar
678069667486Benignnot_provided..HET Link to ClinVar
678070666578Benignnot_provided..HET Link to ClinVar
678071667670Benignnot_provided..HET Link to ClinVar
678072667349Benignnot_provided..HET Link to ClinVar
670501667356Benignnot_provided..HET Link to ClinVar
129797135243Likely_benignnot_specified0.504420.50879HET Link to ClinVar
129796135242Likely_benignnot_specified0.997570.99261HOM Link to ClinVar
194884192046BenignSeckel_syndrome_7
not_specified
0.745360.76438HET Link to ClinVar
281107265344BenignSeckel_syndrome_7
not_specified
0.753260.78494HET Link to ClinVar
129787135233Likely_benignnot_specified0.227190.1863HET Link to ClinVar
129784135230Likely_benignnot_specified0.016050.00899HET Link to ClinVar
129779135225Likely_benignnot_specified0.620670.57728HOM Link to ClinVar
129803135249Likely_benignnot_specified.0.99241HOM Link to ClinVar
258828254969BenignGlycogen_storage_disease,_type_VI
not_specified
not_provided
..HET Link to ClinVar
258829254970BenignGlycogen_storage_disease,_type_VI
not_specified
not_provided
0.235690.251HET Link to ClinVar
258838254975Likely_benignnot_specified
not_provided
..HET Link to ClinVar
194627191790BenignGlycogen_storage_disease,_type_VI
not_specified
not_provided
..HET Link to ClinVar
258830254983BenignGlycogen_storage_disease,_type_VI
not_specified
not_provided
0.225290.23542HET Link to ClinVar
668115667674Benignnot_provided..HOM Link to ClinVar
679273667358Benignnot_provided..HOM Link to ClinVar
379963374264Benignnot_specified.0.81769HOM Link to ClinVar
679272666585Benignnot_provided..HOM Link to ClinVar
379962376096Benignnot_specified0.845510.7522HOM Link to ClinVar
221131222375Benignnot_specified
not_provided
..HOM Link to ClinVar
379960374268Benignnot_specified.0.7504HOM Link to ClinVar
197190194351Benign/Likely_benignMicrophthalmia_syndromic_6
Orofacial_cleft
not_specified
Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant
BMP4-Related_Syndromic_Microphthalmia
Syndromic_Microphthalmia,_Dominant
not_provided
0.457020.32568HET Link to ClinVar
430718424257associationLip_and_oral_cavity_carcinoma.0.40296HET Link to ClinVar
313367320709BenignGTP_cyclohydrolase_I_deficiency
Dystonia,_dopa-responsive
.0.03375HET Link to ClinVar
313378336167BenignGTP_cyclohydrolase_I_deficiency
Dystonia,_dopa-responsive
.0.07408HET Link to ClinVar
313404336185BenignGTP_cyclohydrolase_I_deficiency
Dystonia,_dopa-responsive
.0.94569HOM Link to ClinVar
803031791416BenignJoubert_syndrome_23..HOM Link to ClinVar
313426329589BenignAnophthalmia_-_microphthalmia.0.82488HOM Link to ClinVar
260163254993BenignCataract,_microphthalmia_and_nystagmus
not_specified
Anophthalmia_-_microphthalmia
0.515260.34145HOM Link to ClinVar
313436329623BenignAnophthalmia_-_microphthalmia.0.80332HOM Link to ClinVar
313450338147BenignBranchiootorenal_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
..HOM Link to ClinVar
313459338171BenignBranchiootorenal_Spectrum_Disorders
Nonsyndromic_Hearing_Loss,_Dominant
.0.77117HOM Link to ClinVar
130501135947BenignEmery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.811780.67891HOM Link to ClinVar
130503135949BenignEmery-Dreifuss_muscular_dystrophy
not_specified
.0.752HOM Link to ClinVar
130504135950BenignEmery-Dreifuss_muscular_dystrophy
not_specified
0.812190.67193HOM Link to ClinVar
130508135954BenignEmery-Dreifuss_muscular_dystrophy
not_specified
0.820930.70248HOM Link to ClinVar
130511135957BenignEmery-Dreifuss_muscular_dystrophy
not_specified
0.892380.83726HOM Link to ClinVar
130513135959BenignEmery-Dreifuss_muscular_dystrophy
Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant
not_specified
0.906760.86182HOM Link to ClinVar
130516135962BenignEmery-Dreifuss_muscular_dystrophy
not_specified
.0.66514HOM Link to ClinVar
130520135966BenignEmery-Dreifuss_muscular_dystrophy
not_specified
not_provided
0.807630.68131HOM Link to ClinVar
130521135967BenignEmery-Dreifuss_muscular_dystrophy
not_specified
.0.68231HOM Link to ClinVar
130488135934BenignEmery-Dreifuss_muscular_dystrophy
Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant
not_specified
not_provided
0.39430.48702HET Link to ClinVar
130489135935BenignEmery-Dreifuss_muscular_dystrophy
Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant
not_specified
0.470160.58327HET Link to ClinVar
130490135936BenignEmery-Dreifuss_muscular_dystrophy
not_specified
0.240950.20967HET Link to ClinVar
281196265433Benignnot_specified
not_provided
.0.6883HET Link to ClinVar
313681320910BenignEmery-Dreifuss_muscular_dystrophy.0.6895HET Link to ClinVar
313684329957BenignEmery-Dreifuss_muscular_dystrophy.0.6909HET Link to ClinVar
403114390190Benignnot_specified0.833080.82348HOM Link to ClinVar
1363328672BenignNeural_tube_defects,_folate-sensitive,_susceptibility_to
not_specified
0.43540.34185HET Link to ClinVar
257120255009Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
.0.41054HET Link to ClinVar
257119255010Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.280920.41154HET Link to ClinVar
257118255011Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.281360.41194HET Link to ClinVar
257117255012Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.349440.44509HET Link to ClinVar
257115255014Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
.0.10164HET Link to ClinVar
257108255019Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.338110.46945HET Link to ClinVar
257102255024Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.391650.45028HET Link to ClinVar
257098255027Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.380360.46685HOM Link to ClinVar
257097255028Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.263850.28135HET Link to ClinVar
257138255029Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.326050.3734HET Link to ClinVar
257106255034Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.369320.46605HOM Link to ClinVar
257099255035Benign/Likely_benignElliptocytosis
not_specified
Spherocytosis,_Dominant
0.053440.06809HET Link to ClinVar
313793330076BenignPheochromocytoma.0.51338HOM Link to ClinVar
313801338566BenignPheochromocytoma.0.54593HOM Link to ClinVar
313802338569BenignPheochromocytoma.0.51478HOM Link to ClinVar
313807320994BenignPheochromocytoma.0.51178HOM Link to ClinVar
676931667677Benignnot_provided..HET Link to ClinVar
402887390197Benignnot_specified
not_provided
0.704570.75679HET Link to ClinVar
261355255036Benignnot_specified0.266110.45028HET Link to ClinVar
313851330125BenignSpastic_Paraplegia,_Recessive.0.95008HOM Link to ClinVar
313852321033BenignSpastic_Paraplegia,_Recessive.0.95008HOM Link to ClinVar
313853336646BenignSpastic_Paraplegia,_Recessive.0.3135HET Link to ClinVar
313866338611BenignSpastic_Paraplegia,_Recessive.0.49401HET Link to ClinVar
130783136229Benignnot_specified
Spastic_Paraplegia,_Recessive
not_provided
0.954580.90316HOM Link to ClinVar
669987667498Benignnot_provided..HET Link to ClinVar
670343667369Benignnot_provided..HET Link to ClinVar
667592667370Benignnot_provided..HOM Link to ClinVar
669979666593Benignnot_provided..HET Link to ClinVar
313905338688Benign/Likely_benignnot_specified
Spastic_Paraplegia,_Recessive
not_provided
0.013890.02716HET Link to ClinVar
669978667503Benignnot_provided..HET Link to ClinVar
695138684516Benignnot_provided..HET Link to ClinVar
678188666604Benignnot_provided..HET Link to ClinVar
669974667511Benignnot_provided..HET Link to ClinVar
257188255038Benignnot_specified0.24970.21705HET Link to ClinVar
257189255039Benignnot_specified0.201250.20567HET Link to ClinVar
257190255040Benignnot_specified0.200680.20567HET Link to ClinVar
254714255043Benignnot_specified0.627990.67153HET Link to ClinVar
313956338754Likely_benignEarly-Onset_Familial_Alzheimer_Disease
Dilated_Cardiomyopathy,_Dominant
.0.02117HET Link to ClinVar
313960330249Likely_benignEarly-Onset_Familial_Alzheimer_Disease
Dilated_Cardiomyopathy,_Dominant
.0.14597HET Link to ClinVar
313962336732Likely_benignEarly-Onset_Familial_Alzheimer_Disease
Dilated_Cardiomyopathy,_Dominant
.0.67033HET Link to ClinVar
684519672091Benignnot_provided..HET Link to ClinVar
314060321179BenignPrimary_ciliary_dyskinesia.0.86661HET Link to ClinVar
314069321192BenignPrimary_ciliary_dyskinesia.0.86661HET Link to ClinVar
314082321202Likely_benignPrimary_ciliary_dyskinesia.0.03654HET Link to ClinVar
314084321205Likely_benignPrimary_ciliary_dyskinesia.0.28275HET Link to ClinVar
314091321210BenignPrimary_ciliary_dyskinesia..HET Link to ClinVar
314095321215Likely_benignPrimary_ciliary_dyskinesia.0.09225HET Link to ClinVar
314110321229BenignPrimary_ciliary_dyskinesia.0.86621HET Link to ClinVar
314142321236Uncertain_significancePrimary_ciliary_dyskinesia..HET Link to ClinVar
314149321248BenignPrimary_ciliary_dyskinesia.0.86661HET Link to ClinVar
314153338910Likely_benignPrimary_ciliary_dyskinesia.0.29553HET Link to ClinVar
683565667526Benignnot_provided..HOM Link to ClinVar
669472667703Benignnot_provided..HET Link to ClinVar
683566667704Benignnot_provided..HOM Link to ClinVar
128835134283Benignnot_specified
not_provided
0.328130.1849HET Link to ClinVar
136982140685Benignnot_specified..HOM Link to ClinVar
128834134282Benignnot_specified
not_provided
0.434630.34545HOM Link to ClinVar
314161321265BenignMethylmalonate_semialdehyde_dehydrogenase_deficiency.0.32248HET Link to ClinVar
314165338925BenignMethylmalonate_semialdehyde_dehydrogenase_deficiency.0.24161HET Link to ClinVar
314166321269BenignMethylmalonate_semialdehyde_dehydrogenase_deficiency.0.99301HOM Link to ClinVar
314178338938BenignMethylmalonate_semialdehyde_dehydrogenase_deficiency0.41110.53674HET Link to ClinVar
167840178152BenignMicrophthalmia,_isolated_6
not_specified
VSX2-related_Microphthalmia
0.421660.25998HET Link to ClinVar
259619255050Benignnot_specified0.327590.27037HET Link to ClinVar
259622255051Benignnot_specified0.324350.26298HET Link to ClinVar
259621255052Benignnot_specified0.328520.27037HET Link to ClinVar
259620255053BenignMETHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cblJ_TYPE
not_specified
.0.26258HET Link to ClinVar
314254337136Likely_benignPrimary_congenital_glaucoma
Weill-Marchesani_syndrome
.0.29992HET Link to ClinVar
770997702989Benignnot_provided..HET Link to ClinVar
314328330581Uncertain_significanceLeukoencephalopathy_with_vanishing_white_matter..HET Link to ClinVar
260365255061Benignnot_specified0.995630.98602HOM Link to ClinVar
314342339147Benign/Likely_benignLynch_syndrome
Leukoencephalopathy_with_vanishing_white_matter
.0.51757HET Link to ClinVar
314345337219Benign/Likely_benignLynch_syndrome
Leukoencephalopathy_with_vanishing_white_matter
.0.36522HET Link to ClinVar
314351339162Likely_benignLynch_syndrome.0.34525HET Link to ClinVar
314356337227Likely_benignLynch_syndrome.0.33566HET Link to ClinVar
314361330620Likely_benignLynch_syndrome..HET Link to ClinVar
314364321382Uncertain_significanceLynch_syndrome..HET Link to ClinVar
257253255063Benign/Likely_benignLynch_syndrome
not_specified
0.563440.58007HET Link to ClinVar
257252255064Benign/Likely_benignLynch_syndrome
not_specified
0.412640.36382HET Link to ClinVar
257251255065Benign/Likely_benignLynch_syndrome
not_specified
0.99680.99042HOM Link to ClinVar
314404339228BenignProliferative_vasculopathy_and_hydranencephaly-hydrocephaly_syndrome..HOM Link to ClinVar
95817101714Benign/Likely_benignProliferative_vasculopathy_and_hydranencephaly-hydrocephaly_syndrome
not_specified
0.167580.17931HOM Link to ClinVar
677189656263Benignnot_provided..HOM Link to ClinVar
677190667379Benignnot_provided..HOM Link to ClinVar
677191666618Benignnot_provided..HOM Link to ClinVar
683994667710Benignnot_provided..HOM Link to ClinVar
683992667392Benignnot_provided..HOM Link to ClinVar
314470337337BenignCranioectodermal_dysplasia0.260740.16893HET Link to ClinVar
4500254169Benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.998620.99281HOM Link to ClinVar
314496337357Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.39996HET Link to ClinVar
314507321465Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.29133HET Link to ClinVar
314519339428Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.10943HET Link to ClinVar
314520321479BenignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.85224HOM Link to ClinVar
314525337398Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.14836HET Link to ClinVar
314526339435BenignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.85583HOM Link to ClinVar
314531321492BenignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.51158HET Link to ClinVar
314536337416BenignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.51098HET Link to ClinVar
314545330773Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.14437HET Link to ClinVar
314552339471Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive.0.26857HET Link to ClinVar
166901177616Benignnot_specified0.817640.84705HOM Link to ClinVar
668039667724Benignnot_provided..HET Link to ClinVar
260297255069Benign/Likely_benignnot_specified
not_provided
.0.17851HET Link to ClinVar
671546666659Benignnot_provided..HET Link to ClinVar
670967667746Benignnot_provided..HET Link to ClinVar
674164666664Benignnot_provided..HET Link to ClinVar
673022667749Benignnot_provided..HET Link to ClinVar
668036667760Benignnot_provided..HOM Link to ClinVar
166906177620Benignnot_specified0.820820.85823HOM Link to ClinVar
260290255076Benignnot_specified
not_provided
.0.47644HET Link to ClinVar
95533101432Benignnot_specified0.079690.11042HET Link to ClinVar
683960667544Benignnot_provided..HET Link to ClinVar
683955667766Benignnot_provided..HET Link to ClinVar
673021666670Benignnot_provided..HET Link to ClinVar
668016666673Benignnot_provided..HET Link to ClinVar
673020667779Benignnot_provided..HET Link to ClinVar
95536101435Benign/Likely_benignnot_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
0.123050.08307HET Link to ClinVar
314565321504Benign/Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
.0.05212HET Link to ClinVar
194886192048Benignnot_specified
not_provided
0.006340.00319HET Link to ClinVar
314584330820BenignHereditary_sensory_and_autonomic_neuropathy_type_IC.0.85124HOM Link to ClinVar
314585321535BenignHereditary_sensory_and_autonomic_neuropathy_type_IC.0.94509HOM Link to ClinVar
314589330822BenignHereditary_sensory_and_autonomic_neuropathy_type_IC.0.59625HOM Link to ClinVar
314603330839BenignHereditary_sensory_and_autonomic_neuropathy_type_IC.0.76897HOM Link to ClinVar
314604321542BenignHereditary_sensory_and_autonomic_neuropathy_type_IC.0.94748HOM Link to ClinVar
314606337479BenignHereditary_sensory_and_autonomic_neuropathy_type_IC.0.77616HOM Link to ClinVar
314628330855BenignHereditary_sensory_and_autonomic_neuropathy_type_IC.0.76058HOM Link to ClinVar
670140667550Benignnot_provided..HOM Link to ClinVar
670586667792Benignnot_provided..HOM Link to ClinVar
670138667429Benignnot_provided..HET Link to ClinVar
670570666680Benignnot_provided..HOM Link to ClinVar
670569667440Benignnot_provided..HET Link to ClinVar
670137667563Benignnot_provided..HET Link to ClinVar
314672330884BenignHereditary_sensory_and_autonomic_neuropathy_type_IC
not_specified
0.902940.83746HET Link to ClinVar
670136667565Benignnot_provided..HOM Link to ClinVar
667523667568Benignnot_provided..HOM Link to ClinVar
670568667802Benignnot_provided..HOM Link to ClinVar
670567667443Benignnot_provided..HOM Link to ClinVar
314681337525BenignHereditary_sensory_and_autonomic_neuropathy_type_IC.0.02776HET Link to ClinVar
667522667808Benignnot_provided..HET Link to ClinVar
674092667570Benignnot_provided..HET Link to ClinVar
255954255094Benignnot_specified..HOM Link to ClinVar
135403139142not_providednot_specified.0.61022HOM Link to ClinVar
135400139139Benign/Likely_benignCongenital_hypothyroidism
Hyperthyroidism,_nonautoimmune
not_specified
0.900380.89677HOM Link to ClinVar
314705339647Likely_benignCongenital_hypothyroidism
Hyperthyroidism,_nonautoimmune
.0.84325HOM Link to ClinVar
314708339648Likely_benignCongenital_hypothyroidism
Hyperthyroidism,_nonautoimmune
.0.28435HET Link to ClinVar
314711337591Likely_benignCongenital_hypothyroidism
Hyperthyroidism,_nonautoimmune
.0.15575HET Link to ClinVar
314716330908Likely_benignCongenital_hypothyroidism
Hyperthyroidism,_nonautoimmune
.0.29313HET Link to ClinVar
314719339661Likely_benignCongenital_hypothyroidism
Hyperthyroidism,_nonautoimmune
.0.29353HET Link to ClinVar
314727339667BenignGalactosylceramide_beta-galactosidase_deficiency.0.48862HET Link to ClinVar
314729337616BenignGalactosylceramide_beta-galactosidase_deficiency.0.44788HET Link to ClinVar
314731337617BenignGalactosylceramide_beta-galactosidase_deficiency.0.48882HET Link to ClinVar
314732330918BenignGalactosylceramide_beta-galactosidase_deficiency.0.49341HET Link to ClinVar
314734339676BenignGalactosylceramide_beta-galactosidase_deficiency.0.9409HOM Link to ClinVar
314736339677BenignGalactosylceramide_beta-galactosidase_deficiency0.436280.44748HET Link to ClinVar
314741339688BenignGalactosylceramide_beta-galactosidase_deficiency.0.49341HET Link to ClinVar
9250098409BenignGalactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided
.0.9407HOM Link to ClinVar
680310666692Benignnot_provided..HOM Link to ClinVar
680307667457Benignnot_provided..HET Link to ClinVar
680306666693Benignnot_provided..HET Link to ClinVar
445792439064Likely_benignnot_provided..HET Link to ClinVar
9249998408BenignGalactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided
0.983030.9409HOM Link to ClinVar
9249898407BenignGalactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided
.0.9409HOM Link to ClinVar
9249798406Benign,_otherGalactosylceramide_beta-galactosidase_deficiency
not_specified
0.44060.44748HET Link to ClinVar
9249698405BenignGalactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided
0.541290.48882HET Link to ClinVar
682663666696Benignnot_provided..HOM Link to ClinVar
680304667463Benignnot_provided..HOM Link to ClinVar
680303666699Benignnot_provided..HOM Link to ClinVar
167118177737Benignnot_specified0.983190.94269HOM Link to ClinVar
680302667583Benignnot_provided..HET Link to ClinVar
9249498403BenignGalactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided
0.373370.36661HET Link to ClinVar
680300666701Benignnot_provided..HOM Link to ClinVar
680299667585Benignnot_provided..HOM Link to ClinVar
9249398402Conflicting_interpretations_of_pathogenicityAbnormality_of_brain_morphology
Galactosylceramide_beta-galactosidase_deficiency
not_specified
not_provided
..HOM Link to ClinVar
680298667590Benignnot_provided..HOM Link to ClinVar
680296667593Benignnot_provided..HOM Link to ClinVar
682662667475Benignnot_provided..HOM Link to ClinVar
801397789778Benignnot_provided..HOM Link to ClinVar
286866271103Benign/Likely_benignLeber_congenital_amaurosis
not_specified
Retinitis_Pigmentosa,_Recessive
not_provided
0.347280.40755HET Link to ClinVar
130765136211Likely_benignnot_specified0.618780.48582HOM Link to ClinVar
262516255109Benignnot_specified0.211530.1887HOM Link to ClinVar
314807337713BenignBardet-Biedl_syndrome
Retinitis_Pigmentosa,_Recessive
.0.19988HOM Link to ClinVar
674613656269Benignnot_provided..HOM Link to ClinVar
683300667831Benignnot_provided..HOM Link to ClinVar
674614667624Benignnot_provided..HOM Link to ClinVar
668719667628Benignnot_provided..HOM Link to ClinVar
158118167971Benignnot_specified0.852410.80591HOM Link to ClinVar
158110167963Benignnot_specified0.530360.49401HET Link to ClinVar
713623725855Likely_benignnot_provided..HET Link to ClinVar
158099167951Benignnot_specified0.159550.16633HET Link to ClinVar
158098167950Benignnot_specified0.533570.48043HET Link to ClinVar
158120167973Benignnot_specified.0.36322HET Link to ClinVar
683869667834Benignnot_provided..HET Link to ClinVar
683518667632Benignnot_provided..HOM Link to ClinVar
683516666726Benignnot_provided..HOM Link to ClinVar
163450176093BenignMacular_degeneration
not_specified
Cutis_Laxa,_Dominant/Recessive
0.76090.78494HOM Link to ClinVar
683515666729Benignnot_provided..HOM Link to ClinVar
672116667644Benignnot_provided..HET Link to ClinVar
667761667904Benignnot_provided..HET Link to ClinVar
128510133959Likely_benignnot_specified0.502760.56669HET Link to ClinVar
142016459associationSkin/hair/eye_pigmentation,_variation_in,_6.0.26078HOM Link to ClinVar
586377577377Benignnot_provided0.603170.4988HOM Link to ClinVar
586376577378Benignnot_provided0.691980.58566HOM Link to ClinVar
586378577380Benignnot_provided.0.36302HET Link to ClinVar
315004321840BenignAlpha-1-antitrypsin_deficiency.0.66254HET Link to ClinVar
315008331149Likely_benignAlpha-1-antitrypsin_deficiency.0.69629HOM Link to ClinVar
315009321853Likely_benignAlpha-1-antitrypsin_deficiency.0.46506HET Link to ClinVar
315015331152Likely_benignAlpha-1-antitrypsin_deficiency.0.27197HET Link to ClinVar
315018337963Likely_benignAlpha-1-antitrypsin_deficiency.0.2512HET Link to ClinVar
1795532994Benign/Likely_benignPI_M1-ALA213
PI,_M1A
Alpha-1-antitrypsin_deficiency
not_specified
0.221450.2494HET Link to ClinVar
1805133090BenignANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM
not_specified
0.448020.39936HET Link to ClinVar
315063331201BenignPleuropulmonary_blastoma
not_provided
.0.17232HET Link to ClinVar
315075321892BenignPleuropulmonary_blastoma.0.99002HOM Link to ClinVar
315096331225Uncertain_significancePleuropulmonary_blastoma..HET Link to ClinVar
315098321919BenignPleuropulmonary_blastoma
DICER1-related_pleuropulmonary_blastoma_cancer_predisposition_syndrome
not_specified
.0.90895HET Link to ClinVar
516580505595BenignDICER1-related_pleuropulmonary_blastoma_cancer_predisposition_syndrome
not_specified
not_provided
.0.16574HET Link to ClinVar
676815667564Benignnot_provided..HET Link to ClinVar
676814667909Benignnot_provided..HET Link to ClinVar
379974373305Benignnot_specified0.119750.08307HET Link to ClinVar
402361390143Benignnot_specified0.405140.3151HET Link to ClinVar
402363390149Benignnot_specified0.838420.88459HOM Link to ClinVar
675686667649Benignnot_provided..HET Link to ClinVar
130731136177BenignPontocerebellar_hypoplasia_type_1A
Pontoneocerebellar_hypoplasia
not_specified
0.356470.28954HET Link to ClinVar
680838666770Benignnot_provided..HET Link to ClinVar
670271666774Benignnot_provided..HET Link to ClinVar
670272667566Benignnot_provided..HET Link to ClinVar
680843667569Benignnot_provided..HOM Link to ClinVar
670273667650Benignnot_provided..HET Link to ClinVar
670274667923Benignnot_provided..HOM Link to ClinVar
672717667925Benignnot_provided..HET Link to ClinVar
672718667656Benignnot_provided..HET Link to ClinVar
680844667931Benignnot_provided..HET Link to ClinVar
680841667933Benignnot_provided..HET Link to ClinVar
675687666781Benignnot_provided..HET Link to ClinVar
668120667499Benignnot_provided..HOM Link to ClinVar
679356667276Benignnot_provided..HET Link to ClinVar
681359666418Benignnot_provided..HET Link to ClinVar
668900667286Benignnot_provided..HET Link to ClinVar
674056667189Benignnot_provided..HET Link to ClinVar
128929134376Benign/Likely_benignCharcot-Marie-Tooth_disease,_type_2
History_of_neurodevelopmental_disorder
not_specified
Spinocerebellar_Ataxia,_Dominant
Intellectual_Disability,_Dominant
0.229210.34724HET Link to ClinVar
679361666440Benignnot_provided..HET Link to ClinVar
128932134379Benign/Likely_benignCharcot-Marie-Tooth_disease,_type_2
not_specified
Spinocerebellar_Ataxia,_Dominant
Intellectual_Disability,_Dominant
not_provided
0.231080.3145HET Link to ClinVar
679362667301Benignnot_provided..HET Link to ClinVar
312672335355Likely_benignCharcot-Marie-Tooth_disease,_type_2
Spinocerebellar_Ataxia,_Dominant
Intellectual_Disability,_Dominant
.0.02796HET Link to ClinVar
670710666461Benignnot_provided..HOM Link to ClinVar
670231667506Benignnot_provided..HOM Link to ClinVar
380890373680Benignnot_specified0.36270.30551HOM Link to ClinVar
380873375852Benignnot_specified0.883340.86042HOM Link to ClinVar
672257667321Benignnot_provided..HET Link to ClinVar
670741666468Benignnot_provided..HET Link to ClinVar
670742667328Benignnot_provided..HET Link to ClinVar
380901374019Benignnot_specified0.086040.10324HET Link to ClinVar
380891372957Benignnot_specified0.282960.21486HET Link to ClinVar
516666504407Benignnot_specified..HET Link to ClinVar
667549667241Benignnot_provided..HET Link to ClinVar
670743667513Benignnot_provided..HET Link to ClinVar
240924241780BenignSpastic_paraplegia_49,_autosomal_recessive
not_specified
0.01830.00719HET Link to ClinVar
670744667339Benignnot_provided..HET Link to ClinVar
672260667346Benignnot_provided..HET Link to ClinVar
379942375870Benignnot_specified
not_provided
.0.23463HOM Link to ClinVar
894423983risk_factorCutaneous_malignant_melanoma_60.307510.21685HOM Link to ClinVar
261603254882BenignFocal_segmental_glomerulosclerosis
Focal_segmental_glomerulosclerosis_5
not_specified
0.978250.98662HOM Link to ClinVar
683640667250Benignnot_provided..HET Link to ClinVar
683641667262Benignnot_provided..HET Link to ClinVar
261606254892BenignFocal_segmental_glomerulosclerosis
Focal_segmental_glomerulosclerosis_5
not_specified
not_provided
0.610980.69489HOM Link to ClinVar
681920666487Benignnot_provided..HOM Link to ClinVar
681940666493Benignnot_provided..HOM Link to ClinVar
681943667557Benignnot_provided..HOM Link to ClinVar
683642667363Benignnot_provided..HOM Link to ClinVar
681944667364Benignnot_provided..HOM Link to ClinVar
681946667558Benignnot_provided..HOM Link to ClinVar
261611254897BenignFocal_segmental_glomerulosclerosis
not_specified
not_provided
0.860830.90935HOM Link to ClinVar
681950667266Benignnot_provided..HOM Link to ClinVar
261613254899BenignFocal_segmental_glomerulosclerosis
not_specified
not_provided
0.806020.84425HOM Link to ClinVar
261617254903BenignFocal_segmental_glomerulosclerosis
Focal_segmental_glomerulosclerosis_5
not_specified
.0.69489HOM Link to ClinVar
681951667567Benignnot_provided..HOM Link to ClinVar
681953667268Benignnot_provided..HOM Link to ClinVar
312721337289BenignFocal_segmental_glomerulosclerosis.0.54812HOM Link to ClinVar
769403702775Benignnot_provided..HET Link to ClinVar
498670490094BenignCowden_syndrome_6
not_specified
0.314130.32248HET Link to ClinVar
695299685395Benignnot_provided..HET Link to ClinVar
803053791385BenignLethal_congenital_contracture_syndrome_6..HET Link to ClinVar
402348390106Benignnot_specified0.454730.38518HET Link to ClinVar
402906390122Benignnot_specified0.08959.HET Link to ClinVar
315341322078BenignSpastic_paraplegia,_autosomal_dominant.0.55571HET Link to ClinVar
315356340084BenignSpastic_paraplegia,_autosomal_dominant.0.07688HET Link to ClinVar
315375331344BenignSpastic_paraplegia,_autosomal_dominant.0.44788HET Link to ClinVar
315387322041BenignSpastic_paraplegia,_autosomal_dominant.0.72145HET Link to ClinVar
315389322040BenignSpastic_paraplegia,_autosomal_dominant.1HOM Link to ClinVar
315390331337BenignSpastic_paraplegia,_autosomal_dominant.0.96386HOM Link to ClinVar
315399338174BenignSpastic_paraplegia,_autosomal_dominant.0.11022HET Link to ClinVar
315405338164BenignSpastic_paraplegia,_autosomal_dominant.0.41014HET Link to ClinVar
315410338158BenignSpastic_paraplegia,_autosomal_dominant.0.6879HET Link to ClinVar
315416338138BenignSpastic_paraplegia,_autosomal_dominant..HET Link to ClinVar
129804135250BenignSpastic_paraplegia_6
not_specified
Spastic_paraplegia,_autosomal_dominant
0.735890.70407HET Link to ClinVar
667673667672Benignnot_provided..HOM Link to ClinVar
679847666784Benignnot_provided..HOM Link to ClinVar
315447331389Likely_benignAutism_spectrum_disorder.0.52177HOM Link to ClinVar
256818255127Benignnot_specified0.345620.47364HET Link to ClinVar
668799667588Benignnot_provided..HET Link to ClinVar
668798667971Benignnot_provided..HET Link to ClinVar
682657667591Benignnot_provided..HOM Link to ClinVar
680281667689Benignnot_provided..HET Link to ClinVar
668792667981Benignnot_provided..HET Link to ClinVar
256819255131Benignnot_specified0.222090.1869HET Link to ClinVar
377904376374BenignSeizures
not_specified
not_provided
0.298250.19808HET Link to ClinVar
255730255132BenignOculocutaneous_albinism
not_specified
0.262150.28275HET Link to ClinVar
195643192804BenignOculocutaneous_albinism
not_specified
0.449260.5024HET Link to ClinVar
255722255140BenignOculocutaneous_albinism
not_specified
0.563840.36402HOM Link to ClinVar
255720255141BenignOculocutaneous_albinism
not_specified
0.546020.32129HOM Link to ClinVar
193986191149BenignOculocutaneous_albinism
not_specified
0.779330.69329HOM Link to ClinVar
255716255145BenignOculocutaneous_albinism
not_specified
0.636720.41074HOM Link to ClinVar
474519784associationSkin/hair/eye_pigmentation,_variation_in,_1.0.17732HET Link to ClinVar
474419783AffectsSkin/hair/eye_pigmentation,_variation_in,_1.0.38858HOM Link to ClinVar
474319782associationSkin/hair/eye_pigmentation,_variation_in,_1.0.37959HOM Link to ClinVar
260492255152Benignnot_specified0.459410.42252HET Link to ClinVar
260491255153Benignnot_specified0.47550.45707HET Link to ClinVar
315511322164BenignCongenital_Stationary_Night_Blindness,_Recessive0.810390.75939HOM Link to ClinVar
193856191019Benignnot_specified
Congenital_Stationary_Night_Blindness,_Recessive
0.541930.51917HOM Link to ClinVar
196343193504Benignnot_specified
Congenital_Stationary_Night_Blindness,_Recessive
0.799050.79094HOM Link to ClinVar
315540331492BenignCongenital_Stationary_Night_Blindness,_Recessive0.844650.89437HOM Link to ClinVar
782885714380Likely_benignnot_provided..HOM Link to ClinVar
284763269000Benignnot_specified0.579540.65775HET Link to ClinVar
461837464817Benignnot_provided0.009870.02756HET Link to ClinVar
461892463991BenignEpileptic_encephalopathy0.016270.05531HET Link to ClinVar
315547322184Likely_benignAndermann_syndrome.0.17692HOM Link to ClinVar
315555331510Likely_benignAndermann_syndrome..HOM Link to ClinVar
315556322193BenignAndermann_syndrome.0.96705HOM Link to ClinVar
315561331514Likely_benignAndermann_syndrome.0.17712HOM Link to ClinVar
315565338420Likely_benignAndermann_syndrome.0.21526HOM Link to ClinVar
315567340191Likely_benignAndermann_syndrome..HOM Link to ClinVar
315581338444Likely_benignAndermann_syndrome.0.17692HOM Link to ClinVar
315582340194Likely_benignAndermann_syndrome.0.17352HOM Link to ClinVar
315587340206BenignAndermann_syndrome.0.94569HOM Link to ClinVar
315595331534BenignAndermann_syndrome.0.78954HOM Link to ClinVar
669887666814Benignnot_provided..HOM Link to ClinVar
670100667989Benignnot_provided..HOM Link to ClinVar
670098667604Benignnot_provided..HOM Link to ClinVar
159893169111Likely_benignnot_specified0.188980.20707HOM Link to ClinVar
669882667617Benignnot_provided..HOM Link to ClinVar
670094667620Benignnot_provided..HOM Link to ClinVar
159891169112Likely_benignnot_specified.0.02177HOM Link to ClinVar
670566667626Benignnot_provided..HOM Link to ClinVar
670093667990Benignnot_provided..HOM Link to ClinVar
670092666818Benignnot_provided..HOM Link to ClinVar
139121142824Benign/Likely_benignAndermann_syndrome
not_specified
.0.20727HOM Link to ClinVar
673452666820Benignnot_provided..HOM Link to ClinVar
139120142823Benignnot_specified0.231260.20687HOM Link to ClinVar
139119142822Benign/Likely_benignAndermann_syndrome
not_specified
.0.20687HOM Link to ClinVar
669867667633Benignnot_provided..HOM Link to ClinVar
668755666821Benignnot_provided..HOM Link to ClinVar
670089667698Benignnot_provided..HOM Link to ClinVar
670088667700Benignnot_provided..HOM Link to ClinVar
670564667645Benignnot_provided..HOM Link to ClinVar
670086666825Benignnot_provided..HOM Link to ClinVar
670085667995Benignnot_provided..HOM Link to ClinVar
159898169119BenignAndermann_syndrome
not_specified
0.251090.27676HOM Link to ClinVar
667460666835Benignnot_provided..HOM Link to ClinVar
159892169121Likely_benignnot_specified.0.48762HOM Link to ClinVar
315628340236Benign/Likely_benignAndermann_syndrome
Dyskeratosis_Congenita,_Recessive
not_provided
.0.21066HOM Link to ClinVar
670084666843Benignnot_provided..HOM Link to ClinVar
679868666846Benignnot_provided..HOM Link to ClinVar
315631340242Benign/Likely_benignAndermann_syndrome
Dyskeratosis_Congenita,_Recessive
.0.21006HOM Link to ClinVar
315633338504BenignDyskeratosis_Congenita,_Recessive0.17820.21006HOM Link to ClinVar
261036255154Benignnot_specified
Dyskeratosis_Congenita,_Recessive
0.368110.45288HOM Link to ClinVar
315653338520Likely_benignAtrial_septal_defect
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.45367HOM Link to ClinVar
315668338564Likely_benignAtrial_septal_defect
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.65595HOM Link to ClinVar
315672338581Likely_benignAtrial_septal_defect
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.14537HET Link to ClinVar
315694338595Likely_benignAtrial_septal_defect
Hypertrophic_cardiomyopathy
Left_ventricular_noncompaction_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Dominant
.0.27855HET Link to ClinVar
677956667714Benignnot_provided..HET Link to ClinVar
257531255156Benignnot_specified0.955450.95807HOM Link to ClinVar
257532255157Benignnot_specified0.535160.49701HET Link to ClinVar
561829552838Benignnot_provided.0.84205HOM Link to ClinVar
561830552839Benignnot_provided.0.80232HOM Link to ClinVar
4137149795Benign/Likely_benignLegius_syndrome
not_specified
not_provided
0.863750.80012HOM Link to ClinVar
561883552840Benignnot_provided..HET Link to ClinVar
561831552841Benignnot_provided.0.76478HOM Link to ClinVar
561479552842Benignnot_provided.0.90895HOM Link to ClinVar
561832552845Benignnot_provided.0.79633HOM Link to ClinVar
561406552846Benignnot_provided.0.79932HOM Link to ClinVar
4145249890BenignLegius_syndrome
not_specified
not_provided
0.226540.17792HET Link to ClinVar
4145349891Benign/Likely_benignLegius_syndrome
not_specified
not_provided
0.86370.79932HOM Link to ClinVar
561407552847Benignnot_provided0.974710.90955HOM Link to ClinVar
561480552848Benignnot_provided.0.79932HOM Link to ClinVar
561481552849Benignnot_provided.0.79912HOM Link to ClinVar
561482552850Benignnot_provided.0.79932HOM Link to ClinVar
561483552851Benignnot_provided.0.79892HOM Link to ClinVar
4137049794Benign/Likely_benignLegius_syndrome
not_specified
not_provided
.0.79952HOM Link to ClinVar
315753331665Likely_benignLegius_syndrome..HET Link to ClinVar
315762322368Likely_benignLegius_syndrome.0.13758HET Link to ClinVar
315774331693Likely_benignLegius_syndrome.0.16474HET Link to ClinVar
315775340362Likely_benignLegius_syndrome.0.95407HOM Link to ClinVar
315780322372Likely_benignLegius_syndrome.0.76737HOM Link to ClinVar
315785338686Likely_benignLegius_syndrome.0.15795HET Link to ClinVar
315789322393Likely_benignLegius_syndrome.0.75379HOM Link to ClinVar
674658666878Benignnot_provided..HET Link to ClinVar
381178374053BenignPulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified
0.911170.96006HOM Link to ClinVar
674659667716Benignnot_provided..HET Link to ClinVar
674660667720Benignnot_provided..HET Link to ClinVar
674661668007Benignnot_provided..HET Link to ClinVar
672385667659Benignnot_provided..HET Link to ClinVar
674638668011Benignnot_provided..HET Link to ClinVar
683489666885Benignnot_provided..HET Link to ClinVar
683492668013Benignnot_provided..HET Link to ClinVar
678093667668Benignnot_provided..HET Link to ClinVar
674639668022Benignnot_provided..HET Link to ClinVar
674640666888Benignnot_provided..HET Link to ClinVar
678114668026Benignnot_provided..HET Link to ClinVar
683494667673Benignnot_provided..HET Link to ClinVar
674641666895Benignnot_provided..HET Link to ClinVar
674642666897Benignnot_provided..HET Link to ClinVar
381179374061BenignPulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified
0.888310.84445HET Link to ClinVar
674662666909Benignnot_provided..HOM Link to ClinVar
674663667723Benignnot_provided..HOM Link to ClinVar
674664668037Benignnot_provided..HOM Link to ClinVar
674665667729Benignnot_provided..HET Link to ClinVar
674667667734Benignnot_provided..HOM Link to ClinVar
674668667680Benignnot_provided..HOM Link to ClinVar
674669666912Benignnot_provided..HOM Link to ClinVar
674670668039Benignnot_provided..HOM Link to ClinVar
674671666913Benignnot_provided..HET Link to ClinVar
381181374485BenignPulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified
0.393170.38019HET Link to ClinVar
683495667683Benignnot_provided..HET Link to ClinVar
381183373397BenignPulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified
0.918880.86821HOM Link to ClinVar
674672667743Benignnot_provided..HET Link to ClinVar
381185374064BenignPulmonary_venoocclusive_disease_2,_autosomal_recessive
not_specified
0.914430.90555HOM Link to ClinVar
683496666915Benignnot_provided..HOM Link to ClinVar
674673667684Benignnot_provided..HOM Link to ClinVar
402823390230Benignnot_specified0.611730.45787HOM Link to ClinVar
133780137519Benignnot_specified0.656620.62819HOM Link to ClinVar
257632255165Benignnot_specified.0.1907HET Link to ClinVar
257634255167Benignnot_specified0.491570.39697HOM Link to ClinVar
803066791443BenignMosaic_variegated_aneuploidy_syndrome_1..HOM Link to ClinVar
9405399955BenignIsovaleryl-CoA_dehydrogenase_deficiency
not_specified
0.683770.64796HET Link to ClinVar
197740194901Benignnot_specified.0.97844HOM Link to ClinVar
258591255172Benignnot_specified0.462620.46605HET Link to ClinVar
258590255173Benignnot_specified0.678570.63219HET Link to ClinVar
315815322414BenignIsovaleryl-CoA_dehydrogenase_deficiency.0.50739HET Link to ClinVar
315820331727BenignIsovaleryl-CoA_dehydrogenase_deficiency.0.58686HET Link to ClinVar
315821322429BenignIsovaleryl-CoA_dehydrogenase_deficiency.0.50679HET Link to ClinVar
315822340379BenignIsovaleryl-CoA_dehydrogenase_deficiency.0.50699HET Link to ClinVar
315823322434BenignIsovaleryl-CoA_dehydrogenase_deficiency..HET Link to ClinVar
315828331736BenignIsovaleryl-CoA_dehydrogenase_deficiency.0.61122HET Link to ClinVar
315834338723BenignIsovaleryl-CoA_dehydrogenase_deficiency.0.50719HET Link to ClinVar
315837322437BenignIsovaleryl-CoA_dehydrogenase_deficiency..HET Link to ClinVar
672913666917Likely_benignnot_provided..HET Link to ClinVar
128769134218Benignnot_specified0.103940.15336HET Link to ClinVar
128586134035Benignnot_specified
Primary_Microcephaly,_Recessive
0.745650.65375HOM Link to ClinVar
128595134044Benignnot_specified
Primary_Microcephaly,_Recessive
0.787840.70527HOM Link to ClinVar
128588134037Benignnot_specified
Primary_Microcephaly,_Recessive
0.745540.65395HOM Link to ClinVar
128589134038Benignnot_specified
Primary_Microcephaly,_Recessive
0.39240.35144HET Link to ClinVar
128590134039Benignnot_specified
Primary_Microcephaly,_Recessive
0.392840.35084HET Link to ClinVar
128593134042BenignPrimary_autosomal_recessive_microcephaly_4
not_specified
Primary_Microcephaly,_Recessive
0.392340.35124HET Link to ClinVar
315854322446BenignPrimary_Microcephaly,_Recessive0.758910.70567HOM Link to ClinVar
128596134045Benignnot_specified
Primary_Microcephaly,_Recessive
0.393480.35184HET Link to ClinVar
128598134047Benignnot_specified
Primary_Microcephaly,_Recessive
0.327040.20347HET Link to ClinVar
1312828167risk_factorBreast_cancer,_susceptibility_to,_in_BRCA1_and_BRCA2_carriers.0.14317HET Link to ClinVar
678273668072Benignnot_provided..HET Link to ClinVar
9240698317Benignnot_specified
not_provided
0.692790.71945HET Link to ClinVar
678277667772Benignnot_provided..HET Link to ClinVar
668059668088Benignnot_provided..HET Link to ClinVar
678278667780Benignnot_provided..HET Link to ClinVar
678305668100Benignnot_provided..HET Link to ClinVar
286594270831BenignLimb-girdle_muscular_dystrophy,_type_2A
not_specified
Limb-Girdle_Muscular_Dystrophy,_Recessive
.0.99121HOM Link to ClinVar
130647136093Benign/Likely_benignnot_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.009460.00399HET Link to ClinVar
316002338921BenignSpinocerebellar_Ataxia,_Dominant.0.53874HOM Link to ClinVar
262895255211Benignnot_specified0.864160.84485HOM Link to ClinVar
262898255215Benignnot_specified0.86260.84445HOM Link to ClinVar
255149255217Conflicting_interpretations_of_pathogenicitySpherocytosis_type_5
not_specified
Spherocytosis,_Recessive
0.01740.00539HET Link to ClinVar
165304176109Benignnot_specified0.046670.01817HET Link to ClinVar
227082230573Benignnot_specified0.02814.HET Link to ClinVar
670115666939Benignnot_provided..HOM Link to ClinVar
194676191839BenignSpastic_paraplegia_11,_autosomal_recessive
not_specified
not_provided
0.009930.00439HET Link to ClinVar
4127149695BenignSpastic_paraplegia_11,_autosomal_recessive
not_specified
Spastic_Paraplegia,_Recessive
not_provided
0.465950.47484HOM Link to ClinVar
316125340597Likely_benignCongenital_hypothyroidism.0.23023HET Link to ClinVar
316126332071Likely_benignCongenital_hypothyroidism.0.10324HET Link to ClinVar
316129322587Likely_benignCongenital_hypothyroidism.0.09685HET Link to ClinVar
316130340603Likely_benignCongenital_hypothyroidism.0.22524HET Link to ClinVar
260327255228Benign/Likely_benignCongenital_hypothyroidism
not_specified
0.068350.07049HET Link to ClinVar
260324255230BenignCongenital_hypothyroidism
Thyroid_dyshormonogenesis_6
not_specified
0.99770.99141HOM Link to ClinVar
260323255231BenignCongenital_hypothyroidism
Thyroid_dyshormonogenesis_6
not_specified
0.864440.72025HET Link to ClinVar
260322255232Benignnot_specified0.048040.03135HET Link to ClinVar
260321255233Benign/Likely_benignCongenital_hypothyroidism
not_specified
0.098180.15296HET Link to ClinVar
260320255234Benign/Likely_benignCongenital_hypothyroidism
not_specified
0.06730.0629HET Link to ClinVar
260319255235Benign/Likely_benignCongenital_hypothyroidism
not_specified
0.067280.0631HET Link to ClinVar
260318255236Benign/Likely_benignCongenital_hypothyroidism
not_specified
.0.03315HET Link to ClinVar
260317255237Benign/Likely_benignCongenital_hypothyroidism
not_specified
0.102070.16494HET Link to ClinVar
260315255239BenignCongenital_hypothyroidism
Thyroid_dyshormonogenesis_6
not_specified
.0.86142HOM Link to ClinVar
260326255241BenignCongenital_hypothyroidism
Thyroid_dyshormonogenesis_6
not_specified
0.862420.75998HET Link to ClinVar
263302255242BenignThyroglobulin_synthesis_defect
not_specified
0.962070.85843HOM Link to ClinVar
263303255243BenignThyroglobulin_synthesis_defect
not_specified
0.841850.68291HET Link to ClinVar
263304255244BenignThyroglobulin_synthesis_defect
not_specified
.0.92033HOM Link to ClinVar
263305255245BenignThyroglobulin_synthesis_defect
not_specified
0.876460.76418HET Link to ClinVar
263306255246BenignThyroglobulin_synthesis_defect
not_specified
0.851680.68411HET Link to ClinVar
225957227779drug_responsehmg_coa_reductase_inhibitors_response_-_Toxicity/ADR
simvastatin_response_-_Toxicity/ADR
.0.58746HOM Link to ClinVar
316200340648BenignArginine:glycine_amidinotransferase_deficiency.0.71765HOM Link to ClinVar
316201339114Likely_benignArginine:glycine_amidinotransferase_deficiency.0.05531HET Link to ClinVar
316203322635BenignArginine:glycine_amidinotransferase_deficiency..HOM Link to ClinVar
316204332157BenignArginine:glycine_amidinotransferase_deficiency.0.61781HOM Link to ClinVar
316206340649BenignArginine:glycine_amidinotransferase_deficiency.0.45068HOM Link to ClinVar
129137134583BenignArginine:glycine_amidinotransferase_deficiency
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.532930.71765HOM Link to ClinVar
680745667783Benignnot_provided..HOM Link to ClinVar
682670667717Benignnot_provided..HOM Link to ClinVar
129138134584BenignArginine:glycine_amidinotransferase_deficiency
History_of_neurodevelopmental_disorder
not_specified
not_provided
.0.61861HOM Link to ClinVar
684069668109Benignnot_provided..HOM Link to ClinVar
680744668114Benignnot_provided..HOM Link to ClinVar
684068668116Benignnot_provided..HOM Link to ClinVar
316215340655BenignArginine:glycine_amidinotransferase_deficiency0.553330.44389HOM Link to ClinVar
684065667726Benignnot_provided..HOM Link to ClinVar
225951227780drug_responsehmg_coa_reductase_inhibitors_response_-_Toxicity/ADR
simvastatin_response_-_Toxicity/ADR
.0.45088HOM Link to ClinVar
255874255252Benign/Likely_benignBartter_syndrome,_type_1,_antenatal
not_specified
Antenatal_Bartter_Syndrome
0.999240.9978HOM Link to ClinVar
316285339194BenignAntenatal_Bartter_Syndrome.0.73522HOM Link to ClinVar
316290332223BenignAntenatal_Bartter_Syndrome.0.69609HOM Link to ClinVar
316294332230BenignAntenatal_Bartter_Syndrome.0.82069HOM Link to ClinVar
316310332247BenignEctopia_lentis
Marfan_syndrome
Acromicric_dysplasia
Weill-Marchesani_syndrome
MASS_syndrome
Stiff_skin_syndrome
Geleophysic_dysplasia
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.78235HOM Link to ClinVar
316329340715BenignEctopia_lentis
Marfan_syndrome
Acromicric_dysplasia
Weill-Marchesani_syndrome
MASS_syndrome
Stiff_skin_syndrome
Geleophysic_dysplasia
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.65695HOM Link to ClinVar
316351322767BenignEctopia_lentis
Marfan_syndrome
Acromicric_dysplasia
Weill-Marchesani_syndrome
MASS_syndrome
Stiff_skin_syndrome
Geleophysic_dysplasia
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.91933HOM Link to ClinVar
316354339275BenignEctopia_lentis
Marfan_syndrome
Acromicric_dysplasia
Weill-Marchesani_syndrome
MASS_syndrome
Stiff_skin_syndrome
Geleophysic_dysplasia
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.60004HOM Link to ClinVar
677988668117Benignnot_provided..HOM Link to ClinVar
680580667796Benignnot_provided..HOM Link to ClinVar
672314666958Benignnot_provided..HOM Link to ClinVar
680579666959Benignnot_provided..HOM Link to ClinVar
137312141015Benignnot_specified0.740380.65595HOM Link to ClinVar
680578668138Benignnot_provided..HOM Link to ClinVar
680577667738Benignnot_provided..HOM Link to ClinVar
680575667828Benignnot_provided..HOM Link to ClinVar
680574668140Benignnot_provided..HOM Link to ClinVar
680569667847Benignnot_provided..HOM Link to ClinVar
228314230590BenignMarfan_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
11HOM Link to ClinVar
672311667816Benignnot_provided..HOM Link to ClinVar
678485668201Benignnot_provided..HOM Link to ClinVar
678344667824Likely_benignnot_provided..HET Link to ClinVar
678329666999Benignnot_provided..HET Link to ClinVar
669844667825Likely_benignnot_provided..HET Link to ClinVar
669815667883Benignnot_provided..HET Link to ClinVar
678328667830Benignnot_provided..HET Link to ClinVar
678333667002Likely_benignnot_provided..HET Link to ClinVar
158274169172BenignSeckel_syndrome
not_specified
Primary_Microcephaly,_Recessive
0.397450.34465HET Link to ClinVar
668065667003Benignnot_provided..HET Link to ClinVar
136719140422Benign/Likely_benignSeckel_syndrome
not_specified
Primary_Microcephaly,_Recessive
0.053450.08686HET Link to ClinVar
678332667840Benignnot_provided..HOM Link to ClinVar
316436332325BenignSeckel_syndrome
Primary_Microcephaly,_Recessive
.0.19709HET Link to ClinVar
480719846risk_factorAmyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to0.087030.07588HET Link to ClinVar
677997667888Benignnot_provided..HET Link to ClinVar
677998667845Benignnot_provided..HET Link to ClinVar
678000667849Benignnot_provided..HET Link to ClinVar
380768373594BenignSpastic_paraplegia_51,_autosomal_recessive
not_specified
0.565290.5591HET Link to ClinVar
128401133850BenignSpastic_paraplegia_51,_autosomal_recessive
not_specified
0.435150.4409HET Link to ClinVar
678001667010Benignnot_provided..HET Link to ClinVar
667966668205Benignnot_provided..HET Link to ClinVar
678002667013Benignnot_provided..HET Link to ClinVar
667967667851Benignnot_provided..HET Link to ClinVar
678003667852Benignnot_provided..HET Link to ClinVar
680064667900Benignnot_provided..HET Link to ClinVar
667968668218Benignnot_provided..HET Link to ClinVar
680066667859Benignnot_provided..HET Link to ClinVar
678004668220Benignnot_provided..HET Link to ClinVar
255650255284BenignGriscelli_syndrome_type_1
not_specified
0.154280.14856HET Link to ClinVar
255639255294Benignnot_specified0.96880.96246HOM Link to ClinVar
316486339375Likely_benignAmelogenesis_Imperfecta,_Recessive.0.02696HOM Link to ClinVar
316503339378BenignAmelogenesis_Imperfecta,_Recessive.0.52716HOM Link to ClinVar
316537322920BenignAmelogenesis_Imperfecta,_Recessive.0.90435HOM Link to ClinVar
316543332461BenignAmelogenesis_Imperfecta,_Recessive.0.93171HOM Link to ClinVar
316544340846BenignAmelogenesis_Imperfecta,_Recessive.0.90455HOM Link to ClinVar
316563340888BenignAmelogenesis_Imperfecta,_Recessive.0.93211HOM Link to ClinVar
316582340892Uncertain_significanceAmelogenesis_Imperfecta,_Recessive..HET Link to ClinVar
262998255300Benignnot_specified
Amelogenesis_Imperfecta,_Recessive
0.579170.63978HET Link to ClinVar
263003255301Benign/Likely_benignnot_specified
Amelogenesis_Imperfecta,_Recessive
0.41130.32089HET Link to ClinVar
263002255302Benignnot_specified
Amelogenesis_Imperfecta,_Recessive
0.746870.7492HET Link to ClinVar
263001255303Benignnot_specified
Amelogenesis_Imperfecta,_Recessive
0.98820.95947HOM Link to ClinVar
263000255304Benign/Likely_benignnot_specified
Amelogenesis_Imperfecta,_Recessive
..HET Link to ClinVar
369092353321BenignGriscelli_syndrome.0.26657HOM Link to ClinVar
316611339482BenignGriscelli_syndrome.0.26538HOM Link to ClinVar
316612339485BenignGriscelli_syndrome.0.26518HOM Link to ClinVar
316613339493BenignGriscelli_syndrome.0.26558HOM Link to ClinVar
316618322988BenignGriscelli_syndrome.0.26518HOM Link to ClinVar
316621332533BenignGriscelli_syndrome.0.26538HOM Link to ClinVar
316622339506BenignGriscelli_syndrome.0.26538HOM Link to ClinVar
316624340922BenignGriscelli_syndrome.0.26518HOM Link to ClinVar
316627340924BenignGriscelli_syndrome.0.26518HOM Link to ClinVar
316628332547BenignGriscelli_syndrome.0.26538HOM Link to ClinVar
316633339514BenignGriscelli_syndrome.0.26498HOM Link to ClinVar
316634340931BenignGriscelli_syndrome.0.26518HOM Link to ClinVar
316636322989BenignGriscelli_syndrome.0.32668HOM Link to ClinVar
259442255305Benignnot_specified
Griscelli_syndrome
0.200730.26478HOM Link to ClinVar
262315255310Benignnot_specified0.583830.52836HET Link to ClinVar
788449714508Benignnot_provided..HET Link to ClinVar
316660323001BenignHepatic_lipase_deficiency.0.47804HOM Link to ClinVar
316666323007BenignHepatic_lipase_deficiency0.428910.30351HOM Link to ClinVar
316673323013BenignHepatic_lipase_deficiency0.968750.9361HOM Link to ClinVar
316674339577BenignHepatic_lipase_deficiency0.968750.9359HOM Link to ClinVar
770787703274Benignnot_provided..HET Link to ClinVar
668767667916Benignnot_provided..HET Link to ClinVar
684019667936Benignnot_provided..HET Link to ClinVar
668768667868Benignnot_provided..HET Link to ClinVar
678622667948Benignnot_provided..HET Link to ClinVar
684022667950Benignnot_provided..HET Link to ClinVar
3188840548Benign/Likely_benignHypertrophic_cardiomyopathy
Familial_hypertrophic_cardiomyopathy_1
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided
0.673680.70567HET Link to ClinVar
3188940549Benign/Likely_benignHypertrophic_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
not_provided
0.053310.02416HET Link to ClinVar
671948667955Benignnot_provided..HET Link to ClinVar
678158667892Benignnot_provided..HET Link to ClinVar
674934667895Benignnot_provided..HOM Link to ClinVar
675189668247Benignnot_provided..HET Link to ClinVar
316715323041BenignSpastic_Paraplegia,_Recessive.0.45407HET Link to ClinVar
667515667960Benignnot_provided..HET Link to ClinVar
670117667961Benignnot_provided..HET Link to ClinVar
670116667963Benignnot_provided..HET Link to ClinVar
316729323048BenignSpastic_Paraplegia,_Recessive.0.53994HET Link to ClinVar
684265667897Benignnot_provided..HET Link to ClinVar
684264668255Benignnot_provided..HET Link to ClinVar
684261667041Benignnot_provided..HET Link to ClinVar
129308134754BenignNemaline_myopathy_6
not_specified
Nemaline_Myopathy,_Dominant
0.400320.52177HET Link to ClinVar
129309134755Benignnot_specified
Nemaline_Myopathy,_Dominant
0.402420.5016HET Link to ClinVar
129311134757BenignNemaline_myopathy_6
not_specified
Nemaline_Myopathy,_Dominant
0.885290.90375HOM Link to ClinVar
129307134753Benignnot_specified
Nemaline_Myopathy,_Dominant
0.996090.98942HOM Link to ClinVar
316756341058BenignNemaline_Myopathy,_Dominant.0.39078HET Link to ClinVar
316757323067BenignNemaline_Myopathy,_Dominant.0.88938HOM Link to ClinVar
316759323072BenignNemaline_Myopathy,_Dominant.0.34325HET Link to ClinVar
316764341062BenignNemaline_Myopathy,_Dominant.0.38319HET Link to ClinVar
631221351risk_factorLumbar_disc_disease,_susceptibility_to0.568220.49661HET Link to ClinVar
316813341089Likely_benignCongenital_Stationary_Night_Blindness,_Recessive0.050220.02037HET Link to ClinVar
316816323100Likely_benignCongenital_Stationary_Night_Blindness,_Recessive0.128860.02656HET Link to ClinVar
4070449174Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.16374HET Link to ClinVar
4078449254Benignnot_specified.0.27077HET Link to ClinVar
561383552857Benignnot_provided.0.18411HET Link to ClinVar
561540552859Benignnot_provided.0.97684HOM Link to ClinVar
561818552861Benignnot_provided.0.31969HET Link to ClinVar
561384552863Benignnot_provided.0.15855HET Link to ClinVar
4458653753BenignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
Rasopathy
not_specified
not_provided
..HET Link to ClinVar
316841332760Likely_benignNoonan_syndrome
Cardio-facio-cutaneous_syndrome
.0.18311HET Link to ClinVar
240176242095BenignLoeys-Dietz_syndrome_3..HET Link to ClinVar
139216142919BenignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
0.376990.22364HET Link to ClinVar
672362667052Benignnot_provided..HOM Link to ClinVar
683841668281Benignnot_provided..HOM Link to ClinVar
811543799816BenignLoeys-Dietz_syndrome_3..HOM Link to ClinVar
139217142920BenignLoeys-Dietz_syndrome
Loeys-Dietz_syndrome_3
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
0.863520.83407HOM Link to ClinVar
672363667970Benignnot_provided..HOM Link to ClinVar
672364667978Benignnot_provided..HOM Link to ClinVar
683844667985Benignnot_provided..HET Link to ClinVar
683847668288Benignnot_provided..HET Link to ClinVar
683848667905Benignnot_provided..HET Link to ClinVar
673139668299Benignnot_provided..HET Link to ClinVar
673140668313Benignnot_provided..HET Link to ClinVar
316873332783BenignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.2516HET Link to ClinVar
316889341152Likely_benignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.01058HET Link to ClinVar
316892339754BenignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.25339HET Link to ClinVar
316896341159BenignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.2528HET Link to ClinVar
316902339761BenignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.2528HET Link to ClinVar
316929323180BenignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.17053HET Link to ClinVar
316934339769BenignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.2518HET Link to ClinVar
316947332862BenignLoeys-Dietz_syndrome
Thoracic_aortic_aneurysm_and_aortic_dissection
.0.25479HET Link to ClinVar
803103791480BenignKeratosis_palmoplantaris_papulosa..HET Link to ClinVar
369098353327BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.48423HET Link to ClinVar
316970339790BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.40495HET Link to ClinVar
668098667994Benignnot_provided..HET Link to ClinVar
668097668008Benignnot_provided..HOM Link to ClinVar
560340551393BenignCeroid_lipofuscinosis_neuronal_6.0.47604HET Link to ClinVar
768717778135Benignnot_provided..HOM Link to ClinVar
445726438998Likely_benignnot_provided..HOM Link to ClinVar
791639714580Likely_benignnot_provided..HET Link to ClinVar
317033332971BenignTay-Sachs_disease.0.69329HOM Link to ClinVar
317035341250BenignTay-Sachs_disease.0.69289HOM Link to ClinVar
9319199098BenignTay-Sachs_disease
not_specified
not_provided
0.964140.877HOM Link to ClinVar
684096668211Benignnot_provided..HOM Link to ClinVar
9318999096BenignTay-Sachs_disease
not_specified
not_provided
0.964330.8764HOM Link to ClinVar
166733177512BenignBardet-Biedl_syndrome_1
not_specified
0.983280.94189HOM Link to ClinVar
262143255348BenignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided
0.983080.94209HOM Link to ClinVar
166734177513Benignnot_specified
not_provided
0.987460.96046HOM Link to ClinVar
2173434586BenignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
not_specified
not_provided
0.574320.42891HET Link to ClinVar
317073341280Likely_benignBardet-Biedl_syndrome.0.11122HET Link to ClinVar
95285101184Benignnot_specified
Cardiovascular_phenotype
not_provided
.0.85963HOM Link to ClinVar
259779255358Benignnot_specified
not_provided
0.875810.77296HOM Link to ClinVar
683543667065Benignnot_provided..HOM Link to ClinVar
137539141242Benignnot_specified
Cardiovascular_phenotype
0.085650.05312HET Link to ClinVar
137537141240Benignnot_specified
Cardiovascular_phenotype
0.061310.02496HET Link to ClinVar
683544668358Benignnot_provided..HET Link to ClinVar
1436129400risk_factorExfoliation_syndrome,_susceptibility_to0.184940.2476HOM Link to ClinVar
1436229401risk_factorExfoliation_syndrome,_susceptibility_to.0.71286HOM Link to ClinVar
403329390172Benignnot_specified0.522590.55192HOM Link to ClinVar
403330390173Benignnot_specified0.35990.35124HET Link to ClinVar
317085341282BenignSyndromic_Microphthalmia,_Recessive.0.53275HOM Link to ClinVar
674954668018Benignnot_provided..HOM Link to ClinVar
674953667943Benignnot_provided..HOM Link to ClinVar
511079505375Likely_benignnot_specified.0.62979HOM Link to ClinVar
675798656305Benignnot_provided..HOM Link to ClinVar
9406799969BenignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1B
not_specified
0.368910.21366HET Link to ClinVar
9406999971BenignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1B
not_specified
0.437470.33826HET Link to ClinVar
9406699968BenignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_1B
not_specified
0.437640.33866HET Link to ClinVar
317152333071BenignGlutaric_aciduria,_type_2.0.97424HOM Link to ClinVar
681672667092Benignnot_provided..HET Link to ClinVar
683823668379Benignnot_provided..HOM Link to ClinVar
680103668384Benignnot_provided..HET Link to ClinVar
676233668019Benignnot_provided..HET Link to ClinVar
810900799822BenignPyogenic_arthritis,_pyoderma_gangrenosum_and_acne..HOM Link to ClinVar
440205433868BenignPyogenic_arthritis,_pyoderma_gangrenosum_and_acne
not_provided
.0.53175HOM Link to ClinVar
668718668044Benignnot_provided..HOM Link to ClinVar
768719703352Likely_benignnot_provided..HET Link to ClinVar
226515230606Benignnot_specified
not_provided
0.024810.01178HET Link to ClinVar
402789390183Likely_benignnot_specified0.032160.01837HET Link to ClinVar
1749732536drug_responseLung_cancer_susceptibility_2
Smoking_as_a_quantitative_trait_locus_3
nicotine_response_-_Toxicity/ADR
0.267670.14956HOM Link to ClinVar
1750332542drug_responseLung_cancer_susceptibility_2
Smoking_as_a_quantitative_trait_locus_3
nicotine_response_-_Toxicity/ADR
0.272970.16813HOM Link to ClinVar
380447376678Benignnot_specified0.003280.00958HET Link to ClinVar
9244698355BenignHypertyrosinemia
Tyrosinemia_type_I
not_specified
0.514060.50679HET Link to ClinVar
255279255370Benignnot_specified0.609830.63299HET Link to ClinVar
255280255371Benignnot_specified.0.64038HET Link to ClinVar
255282255373Benignnot_specified0.739070.77875HET Link to ClinVar
317217339979Likely_benignHypertyrosinemia..HET Link to ClinVar
317219339984Likely_benignHypertyrosinemia.0.11262HET Link to ClinVar
317221341367Likely_benignHypertyrosinemia.0.05112HET Link to ClinVar
317222323442Likely_benignHypertyrosinemia.0.11262HET Link to ClinVar
710056726305Benignnot_provided..HET Link to ClinVar
773051778145Benignnot_provided..HET Link to ClinVar
679398656313Benignnot_provided..HOM Link to ClinVar
130839136283Benign/Likely_benignGalloway-Mowat_syndrome_1
not_specified
0.750130.78395HOM Link to ClinVar
382155374366Benignnot_specified0.818870.86482HOM Link to ClinVar
678087667974Benignnot_provided..HOM Link to ClinVar
678441668413Benignnot_provided..HOM Link to ClinVar
379361374372Benignnot_specified0.67080.72584HOM Link to ClinVar
382154374781Benignnot_specified0.220230.13638HOM Link to ClinVar
384685374791Benignnot_specified0.221950.13798HOM Link to ClinVar
383784374381Benignnot_specified0.678950.74361HOM Link to ClinVar
683073668048Benignnot_provided..HOM Link to ClinVar
383785374427Benignnot_specified0.764420.80471HOM Link to ClinVar
384674376712Benignnot_specified0.827640.84784HOM Link to ClinVar
678477667134Benignnot_provided..HET Link to ClinVar
678541668424Benignnot_provided..HET Link to ClinVar
678542668061Benignnot_provided..HET Link to ClinVar
384691376720Benignnot_specified0.224190.15036HET Link to ClinVar
683074668431Benignnot_provided..HOM Link to ClinVar
678088668066Benignnot_provided..HOM Link to ClinVar
384676376731Benignnot_specified0.307460.39497HET Link to ClinVar
284980269217Benignnot_specified0.990960.99561HOM Link to ClinVar
283836268073Benignnot_specified0.534810.42412HET Link to ClinVar
317228341371BenignPigmentary_retinal_dystrophy
Newfoundland_rod-cone_dystrophy
Retinitis_Pigmentosa,_Recessive
.0.34764HOM Link to ClinVar
317230339987BenignPigmentary_retinal_dystrophy
Newfoundland_rod-cone_dystrophy
Retinitis_Pigmentosa,_Recessive
.0.91594HOM Link to ClinVar
378479374448Benignnot_specified0.337420.25619HOM Link to ClinVar
257484255379BenignFanconi_anemia
not_specified
not_provided
.0.25978HOM Link to ClinVar
257486255380Benignnot_specified0.416380.44928HOM Link to ClinVar
257490255381Benignnot_specified0.381970.33886HOM Link to ClinVar
257491255382Benignnot_specified0.380820.33826HOM Link to ClinVar
257481255383BenignFanconi_anemia
not_specified
0.417310.4393HOM Link to ClinVar
257482255384BenignFanconi_anemia
not_specified
not_provided
.0.26498HOM Link to ClinVar
439694433550Benignnot_specified
not_provided
0.959350.98083HOM Link to ClinVar
257485255386Benign/Likely_benignFanconi_anemia
not_specified
not_provided
0.094670.0595HOM Link to ClinVar
257487255387BenignFanconi_anemia
not_specified
0.394380.36262HOM Link to ClinVar
210987208225Likely_benignnot_specified..HOM Link to ClinVar
257489255389Benign/Likely_benignFanconi_anemia
not_specified
POLG-Related_Spectrum_Disorders
not_provided
0.412260.41234HOM Link to ClinVar
317306340026Benign/Likely_benignFanconi_anemia
POLG-Related_Spectrum_Disorders
..HOM Link to ClinVar
317321323507BenignFanconi_anemia
POLG-Related_Spectrum_Disorders
not_provided
.0.44589HOM Link to ClinVar
619393610810Benign/Likely_benignProgressive_sclerosing_poliodystrophy
not_provided
.0.44229HOM Link to ClinVar
138763142466BenignProgressive_sclerosing_poliodystrophy
not_specified
0.420950.41993HOM Link to ClinVar
138754142457Benign/Likely_benignFanconi_anemia
Progressive_sclerosing_poliodystrophy
not_specified
POLG-Related_Spectrum_Disorders
0.374710.29812HOM Link to ClinVar
619492610823BenignProgressive_sclerosing_poliodystrophy0.37190.29113HOM Link to ClinVar
619386610835BenignProgressive_sclerosing_poliodystrophy..HOM Link to ClinVar
680714667155Benignnot_provided..HOM Link to ClinVar
667971667992Benignnot_provided..HOM Link to ClinVar
619385610855BenignProgressive_sclerosing_poliodystrophy0.499090.54732HOM Link to ClinVar
667969667163Benignnot_provided..HOM Link to ClinVar
667951668455Benignnot_provided..HOM Link to ClinVar
680713667167Benignnot_provided..HOM Link to ClinVar
680712668132Benignnot_provided..HOM Link to ClinVar
695736685411Benignnot_provided..HOM Link to ClinVar
263145255399BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
.0.49221HOM Link to ClinVar
96655102548BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
0.5270.45108HOM Link to ClinVar
96653102546BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
0.512820.4393HOM Link to ClinVar
96652102545BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
0.541630.45108HOM Link to ClinVar
96651102544BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
0.525460.4383HOM Link to ClinVar
129413134859BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
.0.79453HOM Link to ClinVar
683980668467Benignnot_provided..HOM Link to ClinVar
263138255406BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
0.569670.51178HOM Link to ClinVar
96649102542BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
0.891220.86142HOM Link to ClinVar
129408134854BenignAcrocallosal_syndrome,_Schinzel_type
not_specified
.0.86022HOM Link to ClinVar
129972135418Benignnot_specified0.088230.02077HET Link to ClinVar
129970135416Likely_benignnot_specified0.379660.39637HET Link to ClinVar
129973135419Likely_benignnot_specified.0.89577HOM Link to ClinVar
369104353333BenignJarcho-Levin_syndrome.0.57528HET Link to ClinVar
254778255426Benignnot_specified0.15530.16094HET Link to ClinVar
9239298303BenignBloom_syndrome
not_specified
not_provided
0.295590.36661HET Link to ClinVar
9239498305Benign/Likely_benignBloom_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
0.161130.15116HET Link to ClinVar
254780255428Benignnot_specified0.158910.14477HET Link to ClinVar
210529208234Likely_benignnot_specified.0.70308HOM Link to ClinVar
9239598306Benign/Likely_benignBloom_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
0.155270.13319HET Link to ClinVar
9239698307Benign/Likely_benignBloom_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
0.155680.13279HET Link to ClinVar
210530208235Likely_benignnot_specified..HOM Link to ClinVar
157646167495Uncertain_significanceFamilial_cancer_of_breast.0.65555HOM Link to ClinVar
157644167493Uncertain_significanceFamilial_cancer_of_breast.0.75539HOM Link to ClinVar
157640167489Uncertain_significanceFamilial_cancer_of_breast0.50640.74301HOM Link to ClinVar
157635167484Uncertain_significanceFamilial_cancer_of_breast.0.49521HOM Link to ClinVar
157632167481Uncertain_significanceFamilial_cancer_of_breast0.308370.47065HOM Link to ClinVar
157630167479Uncertain_significanceFamilial_cancer_of_breast.0.42213HOM Link to ClinVar
157631167480Uncertain_significanceFamilial_cancer_of_breast.0.48463HOM Link to ClinVar
261041255432BenignArthrogryposis,_renal_dysfunction,_and_cholestasis_1
Arthrogryposis_with_renal_dysfunction_and_cholestasis_syndrome
not_specified
.0.76777HOM Link to ClinVar
261037255435BenignArthrogryposis_with_renal_dysfunction_and_cholestasis_syndrome
not_specified
.0.20807HOM Link to ClinVar
317436341554BenignArthrogryposis_with_renal_dysfunction_and_cholestasis_syndrome.0.75659HOM Link to ClinVar
669402667173Benignnot_provided..HOM Link to ClinVar
668075668143Benignnot_provided..HOM Link to ClinVar
668076668478Benignnot_provided..HOM Link to ClinVar
668077668028Benignnot_provided..HOM Link to ClinVar
680217668480Benignnot_provided..HOM Link to ClinVar
668078668158Benignnot_provided..HOM Link to ClinVar
257706255443BenignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
0.841940.82648HOM Link to ClinVar
668079668166Benignnot_provided..HOM Link to ClinVar
257708255445BenignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
0.835250.80911HOM Link to ClinVar
678926667191Benignnot_provided..HOM Link to ClinVar
680220667193Benignnot_provided..HOM Link to ClinVar
678928668498Benignnot_provided..HOM Link to ClinVar
668080668173Benignnot_provided..HOM Link to ClinVar
668081668180Benignnot_provided..HOM Link to ClinVar
257709255446BenignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
0.226580.19349HOM Link to ClinVar
678930668187Benignnot_provided..HOM Link to ClinVar
678932667200Benignnot_provided..HOM Link to ClinVar
668082668508Benignnot_provided..HOM Link to ClinVar
668083667204Benignnot_provided..HOM Link to ClinVar
680221668063Benignnot_provided..HOM Link to ClinVar
257713255450BenignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
0.294620.1865HET Link to ClinVar
284932269169Benignnot_specified0.577520.51118HET Link to ClinVar
199042196202Benignnot_specified
not_provided
0.007290.00479HET Link to ClinVar
282215266452Conflicting_interpretations_of_pathogenicityInsulin-like_growth_factor_1_resistance_to
not_specified
not_provided
0.003610.002HET Link to ClinVar
194610191773BenignInsulin-like_growth_factor_1_resistance_to
not_specified
0.397190.33566HOM Link to ClinVar
317500340150BenignInsulin-like_growth_factor_1_resistance_to..HOM Link to ClinVar
317535323741BenignInsulin-like_growth_factor_1_resistance_to..HOM Link to ClinVar
317539340170BenignInsulin-like_growth_factor_1_resistance_to..HOM Link to ClinVar
317546341605BenignInsulin-like_growth_factor_1_resistance_to.0.48323HOM Link to ClinVar
317570341626BenignInsulin-like_growth_factor_1_resistance_to.0.59045HOM Link to ClinVar
317637340252BenignInsulin-like_growth_factor_1_resistance_to.0.98942HOM Link to ClinVar
315163323871BenignWeill-Marchesani_syndrome_4.0.9998HOM Link to ClinVar
315178340296Likely_benignWeill-Marchesani_syndrome_4.0.01478HET Link to ClinVar
315190333587BenignWeill-Marchesani_syndrome_4.0.58447HET Link to ClinVar
315192323891BenignWeill-Marchesani_syndrome_4.0.58167HET Link to ClinVar
315193341712BenignWeill-Marchesani_syndrome_4..HET Link to ClinVar
315196341714BenignWeill-Marchesani_syndrome_4.0.58806HET Link to ClinVar
315197333598BenignWeill-Marchesani_syndrome_4.0.58786HET Link to ClinVar
315201340315Conflicting_interpretations_of_pathogenicityWeill-Marchesani_syndrome_4..HET Link to ClinVar
315207341719BenignWeill-Marchesani_syndrome_4.0.53674HET Link to ClinVar
315208340319BenignWeill-Marchesani_syndrome_4.0.57388HET Link to ClinVar
315210333602BenignWeill-Marchesani_syndrome_4.0.57768HET Link to ClinVar
315221323900BenignWeill-Marchesani_syndrome_4.0.58646HET Link to ClinVar
315222341724BenignWeill-Marchesani_syndrome_4.0.58367HET Link to ClinVar
315224323905BenignWeill-Marchesani_syndrome_4.0.66094HET Link to ClinVar
315225340341BenignWeill-Marchesani_syndrome_4.0.59385HET Link to ClinVar
315230323910BenignWeill-Marchesani_syndrome_4.0.58846HET Link to ClinVar
315234340349BenignWeill-Marchesani_syndrome_4.0.58467HET Link to ClinVar
315236323914BenignWeill-Marchesani_syndrome_4.0.58666HET Link to ClinVar
315243340365BenignWeill-Marchesani_syndrome_4.0.59006HET Link to ClinVar
315245323916BenignWeill-Marchesani_syndrome_4.0.33846HET Link to ClinVar
315246323920BenignWeill-Marchesani_syndrome_40.62819.HET Link to ClinVar
315248341746BenignWeill-Marchesani_syndrome_4.0.67951HET Link to ClinVar
315286340003BenignWeill-Marchesani_syndrome_4.0.9976HOM Link to ClinVar
315304338092BenignWeill-Marchesani_syndrome_40.682550.69209HET Link to ClinVar
315328340037BenignWeill-Marchesani_syndrome_4..HET Link to ClinVar
587793579916BenignHistory_of_neurodevelopmental_disorder0.384990.3115HOM Link to ClinVar
587795579918BenignHistory_of_neurodevelopmental_disorder0.384840.3115HOM Link to ClinVar
587792580207BenignHistory_of_neurodevelopmental_disorder0.505610.45627HOM Link to ClinVar
587794580213BenignHistory_of_neurodevelopmental_disorder0.384750.3117HOM Link to ClinVar
587791579973BenignHistory_of_neurodevelopmental_disorder.0.3115HOM Link to ClinVar
587799579971BenignHistory_of_neurodevelopmental_disorder0.343840.25479HOM Link to ClinVar
587782579925BenignHistory_of_neurodevelopmental_disorder0.388530.32748HOM Link to ClinVar
587790579990BenignHistory_of_neurodevelopmental_disorder0.386740.3143HOM Link to ClinVar
587785579999BenignHistory_of_neurodevelopmental_disorder0.383580.29852HOM Link to ClinVar
683870667937Benignnot_provided..HET Link to ClinVar
677157667941Benignnot_provided..HET Link to ClinVar
256761255126Benignnot_specified
not_provided
0.204560.21346HET Link to ClinVar
677159667669Benignnot_provided..HET Link to ClinVar
672053656277Benignnot_provided..HET Link to ClinVar
439108432860Benignnot_specified.0.99701HOM Link to ClinVar
402921390135Benignnot_specified.0.93391HOM Link to ClinVar
402405390297Benignnot_specified0.621840.63898HET Link to ClinVar
257169255863Benignnot_specified0.607970.58966HET Link to ClinVar
128631134080Benignnot_specified0.603870.70088HET Link to ClinVar
257165255867Benignnot_specified.0.15974HET Link to ClinVar
257162255869Benignnot_specified..HET Link to ClinVar
768735778218Benignnot_provided..HET Link to ClinVar
96005101900BenignEpilepsy,_childhood_absence_6
not_specified
not_provided
.0.4399HOM Link to ClinVar
9600838427Benignnot_specified
not_provided
.0.04673HET Link to ClinVar
96011101905BenignEpilepsy,_childhood_absence_6
not_specified
not_provided
0.860150.91993HOM Link to ClinVar
585639577430Benignnot_provided0.060610.03355HET Link to ClinVar
585642577432Benignnot_provided0.643120.70967HET Link to ClinVar
585643577433Benignnot_provided0.643230.70967HET Link to ClinVar
585644577434Benignnot_provided0.859690.91773HOM Link to ClinVar
585650577440Benignnot_provided0.079910.03275HET Link to ClinVar
585651577441Benignnot_provided0.097940.03175HET Link to ClinVar
585653577443Benignnot_provided0.622430.69908HET Link to ClinVar
518260508885BenignEpilepsy,_childhood_absence_6
not_provided
0.610360.69169HET Link to ClinVar
585654577444Benignnot_provided0.090780.03275HET Link to ClinVar
96016101910BenignEpilepsy,_childhood_absence_6
not_specified
not_provided
0.662780.70068HET Link to ClinVar
96018101912BenignEpilepsy,_childhood_absence_6
not_specified
not_provided
0.858270.91394HOM Link to ClinVar
317904341950BenignOsteopetrosis.0.66134HET Link to ClinVar
317912333780BenignOsteopetrosis.0.91893HOM Link to ClinVar
317913340566BenignOsteopetrosis.0.46965HET Link to ClinVar
317926333791BenignOsteopetrosis.0.58706HET Link to ClinVar
257949255466BenignOsteopetrosis
not_specified
.0.55591HET Link to ClinVar
317981324309BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia.0.38978HET Link to ClinVar
516182505581BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified
0.964540.98443HOM Link to ClinVar
129260134706BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified
0.198520.23103HET Link to ClinVar
129259134705BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified
0.256330.34744HET Link to ClinVar
129258134704BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified
0.390870.50519HET Link to ClinVar
318223334063BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,_cerebellar_ataxia_and_skeletal_dysplasia
not_specified
0.400350.51498HET Link to ClinVar
318265334129BenignAcid-labile_subunit_deficiency.0.78415HET Link to ClinVar
318273324568BenignAcid-labile_subunit_deficiency0.699910.66873HET Link to ClinVar
671762668649Benignnot_provided..HET Link to ClinVar
671621668341Benignnot_provided..HET Link to ClinVar
671622668167Benignnot_provided..HET Link to ClinVar
676125668170Benignnot_provided..HET Link to ClinVar
676126668660Benignnot_provided..HET Link to ClinVar
4995859120not_providedTuberous_sclerosis_syndrome.0.15336HET Link to ClinVar
4995759119BenignNeoplasm_of_brain
Hereditary_cancer-predisposing_syndrome
Tuberous_sclerosis_syndrome
Lymphangiomyomatosis
Tuberous_sclerosis_2
not_specified
not_provided
0.087110.09205HET Link to ClinVar
675047668366Benignnot_provided..HET Link to ClinVar
4914358305Benignnot_provided.0.61062HET Link to ClinVar
4969558857BenignTuberous_sclerosis_syndrome
not_specified
not_provided
0.071240.03934HET Link to ClinVar
677145668375Benignnot_provided..HET Link to ClinVar
6515776088BenignTuberous_sclerosis_syndrome
not_provided
.0.39337HET Link to ClinVar
6525376185BenignTuberous_sclerosis_syndrome
not_provided
.0.24121HET Link to ClinVar
4943158593BenignTuberous_sclerosis_syndrome
Tuberous_sclerosis_2
not_specified
not_provided
0.206720.25699HET Link to ClinVar
4989559057BenignHereditary_cancer-predisposing_syndrome
Tuberous_sclerosis_syndrome
Lymphangiomyomatosis
not_specified
not_provided
0.188280.27636HET Link to ClinVar
4942058582BenignTuberous_sclerosis_syndrome
not_specified
not_provided
0.110180.16773HET Link to ClinVar
4997659138BenignTuberous_sclerosis_syndrome
Tuberous_sclerosis_2
not_specified
not_provided
0.120960.20088HET Link to ClinVar
256921255507BenignPolycystic_kidney_disease,_adult_type
not_specified
.0.27796HET Link to ClinVar
256917255511BenignPolycystic_kidney_disease,_adult_type
not_specified
.0.27636HET Link to ClinVar
256913255514BenignPolycystic_kidney_disease,_adult_type
not_specified
0.190940.252HET Link to ClinVar
257034255553BenignPolycystic_kidney_disease,_adult_type
not_specified
0.16460.22065HET Link to ClinVar
440071433189BenignPolycystic_kidney_disease,_adult_type.0.63259HOM Link to ClinVar
257004255582BenignPolycystic_kidney_disease,_adult_type
not_specified
.0.17772HET Link to ClinVar
256997255589BenignPolycystic_kidney_disease,_adult_type
not_specified
0.187490.24261HET Link to ClinVar
256968255617BenignPolycystic_kidney_disease,_adult_type
not_specified
.0.22165HET Link to ClinVar
256944255640BenignPolycystic_kidney_disease,_adult_type
not_specified
0.037380.01997HET Link to ClinVar
256942255642BenignPolycystic_kidney_disease,_adult_type
not_specified
0.110470.18291HET Link to ClinVar
256929255655BenignPolycystic_kidney_disease,_adult_type
not_specified
0.188330.22664HET Link to ClinVar
162672175790Benignnot_specified0.919210.90096HET Link to ClinVar
775366703568Benignnot_provided..HET Link to ClinVar
318648341030Uncertain_significanceMyoclonic_epilepsy,_familial_infantile.0.00699HET Link to ClinVar
318677342579BenignMyoclonic_epilepsy,_familial_infantile.0.45547HET Link to ClinVar
318688342594Uncertain_significanceMyoclonic_epilepsy,_familial_infantile.0.0004HET Link to ClinVar
768742703649Benignnot_provided..HET Link to ClinVar
319086341340Likely_benignFamilial_Mediterranean_fever.0.65096HET Link to ClinVar
319088325218Likely_benignFamilial_Mediterranean_fever.0.64996HET Link to ClinVar
319092325223Likely_benignFamilial_Mediterranean_fever.0.69429HET Link to ClinVar
319101334887Likely_benignFamilial_Mediterranean_fever..HET Link to ClinVar
224065225792Likely_benignFamilial_Mediterranean_fever.0.64617HET Link to ClinVar
224064225793Likely_benignFamilial_Mediterranean_fever.0.63978HET Link to ClinVar
3650545167BenignFamilial_Mediterranean_fever
not_specified
.0.35363HET Link to ClinVar
439880433684Benignnot_specified.0.3113HET Link to ClinVar
676934668336Benignnot_provided..HET Link to ClinVar
667833667523Benignnot_provided..HET Link to ClinVar
439879433683Benignnot_specified.0.45407HET Link to ClinVar
439878433682Benignnot_specified
not_provided
.0.45407HET Link to ClinVar
3650345165Benign/Likely_benignFamilial_Mediterranean_fever
not_specified
0.610430.66314HET Link to ClinVar
255615255706Benign/Likely_benignFamilial_Mediterranean_fever
not_specified
0.60570.65056HET Link to ClinVar
3650045162Benign/Likely_benignFamilial_Mediterranean_fever
not_specified
0.602670.63898HET Link to ClinVar
667831668504Benignnot_provided..HET Link to ClinVar
3651545177Benign/Likely_benignFamilial_Mediterranean_fever
not_specified
0.628350.6907HET Link to ClinVar
3651245174Benign/Likely_benignFamilial_Mediterranean_fever
not_specified
0.25550.13598HET Link to ClinVar
3651145173Benign/Likely_benignFamilial_Mediterranean_fever
not_specified
0.490740.38638HET Link to ClinVar
3651045172Benign/Likely_benignFamilial_Mediterranean_fever
not_specified
.0.38658HET Link to ClinVar
3650945171Benign/Likely_benignFamilial_Mediterranean_fever
not_specified
0.438180.38938HET Link to ClinVar
260710255737Benignnot_specified
not_provided
.0.39277HET Link to ClinVar
260709255738Benignnot_specified0.93030.96705HOM Link to ClinVar
96224102118BenignNephronophthisis
not_specified
not_provided
0.979620.99121HOM Link to ClinVar
319241341474BenignNephronophthisis.0.15355HET Link to ClinVar
319394341579BenignKohlschutter's_syndrome.0.39577HET Link to ClinVar
319396325480BenignKohlschutter's_syndrome.0.39796HET Link to ClinVar
319413335133BenignKohlschutter's_syndrome.0.38898HET Link to ClinVar
260705255780Benignnot_specified0.701670.79253HET Link to ClinVar
260704255781Benignnot_specified0.300980.20088HET Link to ClinVar
260703255782Likely_benignnot_specified..HET Link to ClinVar
260708255783Benignnot_specified.0.9992HOM Link to ClinVar
260707255784Benignnot_specified0.228920.1851HET Link to ClinVar
260706255785Benignnot_specified0.710190.73023HET Link to ClinVar
95935101831BenignCongenital_disorder_of_glycosylation_type_1K
not_specified
..HET Link to ClinVar
95936101832Benignnot_specified.0.17672HET Link to ClinVar
803210791630BenignIdiopathic_generalized_epilepsy..HOM Link to ClinVar
320841344189BenignGamma-aminobutyric_acid_transaminase_deficiency
not_provided
0.584130.5008HET Link to ClinVar
320843336367BenignGamma-aminobutyric_acid_transaminase_deficiency
not_provided
0.570410.46945HET Link to ClinVar
321071344196BenignGamma-aminobutyric_acid_transaminase_deficiency0.898540.82588HOM Link to ClinVar
321082326555BenignGamma-aminobutyric_acid_transaminase_deficiency
not_provided
0.385550.31749HET Link to ClinVar
321094342608BenignGamma-aminobutyric_acid_transaminase_deficiency.0.3738HOM Link to ClinVar
321104336390BenignGamma-aminobutyric_acid_transaminase_deficiency.0.37121HOM Link to ClinVar
321107326569BenignGamma-aminobutyric_acid_transaminase_deficiency.0.38498HOM Link to ClinVar
321109326573BenignGamma-aminobutyric_acid_transaminase_deficiency.0.60643HOM Link to ClinVar
321111342626BenignGamma-aminobutyric_acid_transaminase_deficiency.0.55032HOM Link to ClinVar
321126344235BenignGamma-aminobutyric_acid_transaminase_deficiency.0.38618HOM Link to ClinVar
321134342650BenignGamma-aminobutyric_acid_transaminase_deficiency.0.90815HOM Link to ClinVar
321139344245BenignGamma-aminobutyric_acid_transaminase_deficiency.0.60683HOM Link to ClinVar
321145342652BenignGamma-aminobutyric_acid_transaminase_deficiency.0.60543HOM Link to ClinVar
495797487926Benignnot_provided..HOM Link to ClinVar
9280298709BenignCongenital_disorder_of_glycosylation,_type_Ia
not_specified
not_provided
0.465360.38119HOM Link to ClinVar
321232326761Likely_benignCongenital_disorder_of_glycosylation.0.39617HOM Link to ClinVar
321248326771BenignCongenital_disorder_of_glycosylation.0.92093HOM Link to ClinVar
321471336832BenignEpilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation.0.7506HOM Link to ClinVar
321501336853BenignEpilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation.0.42332HET Link to ClinVar
321514336862BenignEpilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation.0.41633HET Link to ClinVar
321515344757BenignEpilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation.0.41733HET Link to ClinVar
321519343130BenignEpilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation.0.36761HET Link to ClinVar
321520343131BenignEpilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation.0.7522HOM Link to ClinVar
321565343154BenignEpilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation.0.374HET Link to ClinVar
321583336920BenignEpilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation.0.26817HET Link to ClinVar
681804668744Benignnot_provided..HET Link to ClinVar
129192134638BenignHistory_of_neurodevelopmental_disorder
Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation
not_specified
0.264820.28115HET Link to ClinVar
675086669016Benignnot_provided..HET Link to ClinVar
674884668617Benignnot_provided..HET Link to ClinVar
681643667736Benignnot_provided..HET Link to ClinVar
129190134636BenignHistory_of_neurodevelopmental_disorder
Epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation
not_specified
0.25420.22584HET Link to ClinVar
681642668765Benignnot_provided..HET Link to ClinVar
683415667740Benignnot_provided..HET Link to ClinVar
258093255451Benignnot_specified.0.41973HET Link to ClinVar
402538390078BenignBare_lymphocyte_syndrome_2
not_specified
0.995860.98722HOM Link to ClinVar
317717323996BenignBare_lymphocyte_syndrome_2
not_specified
0.683960.66314HOM Link to ClinVar
317718323999BenignBare_lymphocyte_syndrome_2
not_specified
0.978720.92871HOM Link to ClinVar
317725324017Likely_benignBare_lymphocyte_syndrome_20.100880.10483HET Link to ClinVar
317727341801Likely_benignBare_lymphocyte_syndrome_2.0.07189HOM Link to ClinVar
317747341808BenignBare_lymphocyte_syndrome_2.0.69169HOM Link to ClinVar
684091668090Benignnot_provided..HOM Link to ClinVar
683058668536Benignnot_provided..HOM Link to ClinVar
684077667277Benignnot_provided..HOM Link to ClinVar
259686255455BenignXeroderma_pigmentosum
not_specified
.0.94649HOM Link to ClinVar
317845333761Uncertain_significanceXeroderma_pigmentosum.0.001HET Link to ClinVar
317871324203Uncertain_significanceXeroderma_pigmentosum.0.001HET Link to ClinVar
672359667306Benignnot_provided..HET Link to ClinVar
138342142045Benign/Likely_benignAortic_aneurysm,_familial_thoracic_4
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
Lissencephaly,_Recessive
.0.41014HET Link to ClinVar
318129333972Uncertain_significanceLissencephaly,_Recessive..HET Link to ClinVar
138334142037Benign/Likely_benignAortic_aneurysm,_familial_thoracic_4
Thoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
Lissencephaly,_Recessive
0.245690.20387HET Link to ClinVar
672357667315Benignnot_provided..HOM Link to ClinVar
680674667318Benignnot_provided..HOM Link to ClinVar
670997668285Benignnot_provided..HOM Link to ClinVar
138330142033Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
0.297510.25359HOM Link to ClinVar
678515668287Benignnot_provided..HOM Link to ClinVar
672356668296BenignAortic_aneurysm,_familial_thoracic_4
not_provided
..HET Link to ClinVar
672355668301Benignnot_provided..HOM Link to ClinVar
138327142030Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection
not_specified
Cardiovascular_phenotype
0.44370.54812HOM Link to ClinVar
138371142074Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection
not_specified
0.416390.53434HOM Link to ClinVar
680657668315Benignnot_provided..HET Link to ClinVar
680653668329Benignnot_provided..HET Link to ClinVar
680648667347Benignnot_provided..HET Link to ClinVar
126852132366Uncertain_significanceFamilial_cancer_of_breast.0.5611HOM Link to ClinVar
126860132374Uncertain_significanceFamilial_cancer_of_breast.0.80371HOM Link to ClinVar
433369426779BenignPseudoxanthoma_elasticum0.070130.06629HET Link to ClinVar
433280426928BenignPseudoxanthoma_elasticum0.139530.15156HET Link to ClinVar
433247426987BenignPseudoxanthoma_elasticum0.415180.33267HET Link to ClinVar
433246426988BenignPseudoxanthoma_elasticum0.415150.33267HET Link to ClinVar
433244426990BenignPseudoxanthoma_elasticum0.426120.33946HET Link to ClinVar
433383427023BenignPseudoxanthoma_elasticum.0.73143HET Link to ClinVar
433382427024BenignPseudoxanthoma_elasticum.0.78794HET Link to ClinVar
433228427028BenignPseudoxanthoma_elasticum0.306720.23223HET Link to ClinVar
143117152835Likely_benignnot_provided0.33840.28275HET Link to ClinVar
143120152838Conflicting_interpretations_of_pathogenicityPseudoxanthoma_elasticum
not_provided
0.05976.HET Link to ClinVar
669474668335Benignnot_provided..HET Link to ClinVar
683572668160Benignnot_provided..HOM Link to ClinVar
683574668645Benignnot_provided..HET Link to ClinVar
683575668337Benignnot_provided..HOM Link to ClinVar
683576667359Benignnot_provided..HET Link to ClinVar
678528656341Benignnot_provided..HET Link to ClinVar
669795668165Benignnot_provided..HOM Link to ClinVar
683582668340Benignnot_provided..HOM Link to ClinVar
402512390286Benignnot_specified0.868140.82808HOM Link to ClinVar
318299342241Benignnot_specified
Uromodulin-associated_kidney_disease
0.026840.04014HET Link to ClinVar
402724390162Benignnot_specified.0.44449HET Link to ClinVar
4424153408Benignnot_specified.0.5026HET Link to ClinVar
4423753404Benignnot_specified0.234280.20288HET Link to ClinVar
4795457118Benignnot_specified0.062360.10304HET Link to ClinVar
682739668216Benignnot_provided..HET Link to ClinVar
4795257116Benignnot_specified0.631970.57668HOM Link to ClinVar
318343334228BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
.0.19689HET Link to ClinVar
318344324670BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
0.23780.19689HET Link to ClinVar
165172176148BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
not_specified
not_provided
0.302280.23902HOM Link to ClinVar
165173176006BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
not_specified
not_provided
0.301770.23922HOM Link to ClinVar
165174176149BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
not_specified
not_provided
0.060860.04453HET Link to ClinVar
165176176008BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
not_specified
0.810620.78375HET Link to ClinVar
318367334266BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
.0.33946HET Link to ClinVar
318371334268BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
.0.33946HET Link to ClinVar
318373340920BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Liddle_syndrome_1
.0.33886HET Link to ClinVar
165167176011BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Bronchiectasis_with_or_without_elevated_sweat_chloride_1
Liddle_syndrome_1
not_specified
0.635470.78854HOM Link to ClinVar
165170176014BenignPseudohypoaldosteronism_type_1_autosomal_recessive
Bronchiectasis_with_or_without_elevated_sweat_chloride_1
Liddle_syndrome_1
not_specified
.0.04133HET Link to ClinVar
318516340995BenignCombined_oxidative_phosphorylation_deficiency.0.78694HOM Link to ClinVar
318518342493BenignCombined_oxidative_phosphorylation_deficiency.0.78694HOM Link to ClinVar
318532324778BenignCombined_oxidative_phosphorylation_deficiency..HOM Link to ClinVar
318536334395BenignCombined_oxidative_phosphorylation_deficiency..HOM Link to ClinVar
318539260348BenignCombined_oxidative_phosphorylation_deficiency0.830360.80212HOM Link to ClinVar
680558667432Benignnot_provided..HOM Link to ClinVar
671646667437Benignnot_provided..HET Link to ClinVar
137186140889Benignnot_specified
Combined_oxidative_phosphorylation_deficiency
not_provided
0.830630.80192HOM Link to ClinVar
671552668245Benignnot_provided..HOM Link to ClinVar
137185140888Benignnot_specified
Combined_oxidative_phosphorylation_deficiency
not_provided
0.755670.67312HOM Link to ClinVar
680557668733Benignnot_provided..HOM Link to ClinVar
137183140886Benignnot_specified
Combined_oxidative_phosphorylation_deficiency
not_provided
0.830810.80272HOM Link to ClinVar
676118668436Benignnot_provided..HOM Link to ClinVar
137191140894Benignnot_specified
Combined_oxidative_phosphorylation_deficiency
not_provided
0.756060.67472HOM Link to ClinVar
126714132224Likely_benignFamilial_cancer_of_breast0.997470.99681HOM Link to ClinVar
679913668458Benignnot_provided..HET Link to ClinVar
668788668267Benignnot_provided..HET Link to ClinVar
668786668740Benignnot_provided..HET Link to ClinVar
318738341082BenignCombined_oxidative_phosphorylation_deficiency.0.26158HET Link to ClinVar
667506668291Benignnot_provided..HET Link to ClinVar
318747341086BenignCombined_oxidative_phosphorylation_deficiency0.345440.26158HET Link to ClinVar
318760342632BenignCombined_oxidative_phosphorylation_deficiency.0.34924HET Link to ClinVar
671198668464Benignnot_provided..HET Link to ClinVar
678078668298Benignnot_provided..HET Link to ClinVar
678079667497Benignnot_provided..HET Link to ClinVar
678080668302Benignnot_provided..HET Link to ClinVar
678081667509Benignnot_provided..HET Link to ClinVar
96545102439BenignBrody_myopathy
not_specified
not_provided
0.348190.33886HET Link to ClinVar
678082668484Benignnot_provided..HET Link to ClinVar
678083668489Benignnot_provided..HET Link to ClinVar
678094668502Benignnot_provided..HET Link to ClinVar
678201667510Benignnot_provided..HET Link to ClinVar
96539102433BenignBrody_myopathy
not_specified
not_provided
0.706010.81869HET Link to ClinVar
318803341124BenignCommon_variable_immunodeficiency_3
not_specified
Common_Variable_Immune_Deficiency,_Recessive
0.729320.83027HET Link to ClinVar
318805324967BenignCommon_Variable_Immune_Deficiency,_Recessive.0.1871HET Link to ClinVar
318821324989Uncertain_significanceCommon_Variable_Immune_Deficiency,_Recessive..HET Link to ClinVar
803248791581BenignSpondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_2..HOM Link to ClinVar
167544177989Benignnot_specified0.997960.99181HOM Link to ClinVar
769898703631Benignnot_provided..HOM Link to ClinVar
259450255674Benignnot_specified..HOM Link to ClinVar
512692505610Benignnot_specified0.882790.89517HOM Link to ClinVar
260018255677Benignnot_specified0.154430.08327HET Link to ClinVar
195889193050Benignnot_specified0.993890.98123HOM Link to ClinVar
160034169197Benign/Likely_benignFloating-Harbor_syndrome
not_specified
0.013460.00659HET Link to ClinVar
318927341225BenignGlycogen_phosphorylase_kinase_deficiency.0.98143HOM Link to ClinVar
255782255685Benignnot_specified0.989450.96745HOM Link to ClinVar
318968341249Likely_benignDilated_Cardiomyopathy,_Dominant.0.58866HOM Link to ClinVar
261873255691Benignnot_specified.0.49341HOM Link to ClinVar
261870255696Benignnot_specified0.603290.49281HOM Link to ClinVar
225975227784drug_responsewarfarin_response_-_Dosage
not_provided
.0.60963HET Link to ClinVar
226026227785drug_responsenot_specified
warfarin_response_-_Dosage
.0.41633HET Link to ClinVar
3734438302drug_responseWarfarin_response
not_specified
acenocoumarol_response_-_Dosage
phenprocoumon_response_-_Dosage
warfarin_response_-_Dosage
Vitamin_K-Dependent_Clotting_Factors
.0.35583HET Link to ClinVar
225960227786drug_responsewarfarin_response_-_Dosage
not_provided
.0.09365HET Link to ClinVar
221117250Likely_benign,_otherWarfarin_response
not_specified
not_provided
.0.35563HET Link to ClinVar
226015227782drug_responsewarfarin_response_-_Dosage.0.52556HET Link to ClinVar
128521133970Benignnot_specified0.380310.35923HET Link to ClinVar
318979334778BenignAmyotrophic_Lateral_Sclerosis,_Dominant0.98460.9391HOM Link to ClinVar
259594255698BenignAmyotrophic_lateral_sclerosis_type_6
not_specified
Amyotrophic_Lateral_Sclerosis,_Dominant
.0.27895HET Link to ClinVar
319004325136BenignAmyotrophic_Lateral_Sclerosis,_Dominant0.422680.28175HET Link to ClinVar
319017334828BenignAmyotrophic_Lateral_Sclerosis,_Dominant0.999440.99101HOM Link to ClinVar
703789695697Benignnot_provided..HET Link to ClinVar
260386255745BenignMeier-Gorlin_syndrome
not_specified
Parkinson_Disease,_Dominant
0.426380.19409HOM Link to ClinVar
257173255752Likely_benignnot_specified..HET Link to ClinVar
319385335120BenignGlycogen_phosphorylase_kinase_deficiency.0.99641HOM Link to ClinVar
260529255766Benignnot_specified0.216530.20487HET Link to ClinVar
260538255777Benignnot_specified0.479610.57867HOM Link to ClinVar
319429341616BenignBlau_syndrome
Crohn_disease
not_specified
.0.24661HOM Link to ClinVar
319450341634BenignBlau_syndrome
Crohn_disease
not_specified
0.330220.21605HOM Link to ClinVar
97869103761Benign/Likely_benignInflammatory_bowel_disease_1
Psoriatic_arthritis,_susceptibility_to
Blau_syndrome
Yao_syndrome
Crohn_disease
not_specified
0.061120.03335HET Link to ClinVar
319482325520BenignBlau_syndrome
Crohn_disease
.0.35823HOM Link to ClinVar
319492335201BenignBlau_syndrome
Crohn_disease
.0.35224HET Link to ClinVar
319586335255BenignTownes-Brocks_syndrome_1..HET Link to ClinVar
258871255786BenignTownes-Brocks_syndrome_1
not_specified
0.996480.98682HOM Link to ClinVar
667579668339Benignnot_provided..HET Link to ClinVar
258866255790BenignTownes-Brocks_syndrome_1
not_specified
.0.53874HET Link to ClinVar
319624343259Likely_benignNephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
.0.47664HET Link to ClinVar
319634341775Likely_benignNephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
.0.47704HET Link to ClinVar
319645335300Likely_benignNephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
.0.47704HET Link to ClinVar
671910668775Benignnot_provided..HET Link to ClinVar
319648325647Uncertain_significanceNephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
..HET Link to ClinVar
95692101589Benign/Likely_benignNephronophthisis
Joubert_syndrome
Meckel-Gruber_syndrome
not_specified
not_provided
0.225520.13698HOM Link to ClinVar
126276131808Benignnot_specified
not_provided
0.35750.48463HOM Link to ClinVar
217824214481risk_factorOBESITY_(BMIQ14),_SUSCEPTIBILITY_TO.0.22863HET Link to ClinVar
319750341847BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders0.301280.20008HET Link to ClinVar
319756335387BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders0.837830.79992HET Link to ClinVar
319761343361BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders.0.32488HET Link to ClinVar
319766325751BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders0.484090.48762HET Link to ClinVar
319768335392BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders0.395040.30391HET Link to ClinVar
319769335396Likely_benignMulticentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders.0.03714HET Link to ClinVar
319776343362BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders.0.29892HET Link to ClinVar
319789325781Likely_benignOrthostatic_intolerance.0.753HET Link to ClinVar
319803341872Likely_benignOrthostatic_intolerance.0.23343HET Link to ClinVar
319805335414Likely_benignOrthostatic_intolerance0.303740.22943HET Link to ClinVar
319820335430Uncertain_significanceOrthostatic_intolerance..HET Link to ClinVar
319821335436Likely_benignOrthostatic_intolerance..HET Link to ClinVar
319842341888Likely_benignOrthostatic_intolerance.0.89357HOM Link to ClinVar
585942577548BenignHistory_of_neurodevelopmental_disorder
not_provided
0.438360.4974HET Link to ClinVar
261981255825BenignBardet-Biedl_syndrome
Bardet-Biedl_syndrome_1
Bardet-Biedl_syndrome_2
not_specified
not_provided
0.209240.26358HET Link to ClinVar
285261269498BenignBardet-Biedl_syndrome_2
not_specified
not_provided
0.993770.99641HOM Link to ClinVar
369114353343BenignBardet-Biedl_syndrome.0.99701HOM Link to ClinVar
504886497694BenignFamilial_hypokalemia-hypomagnesemia
not_specified
0.975570.99062HOM Link to ClinVar
255880255835BenignFamilial_hypokalemia-hypomagnesemia
not_specified
0.458970.57069HET Link to ClinVar
319917341943Benign/Likely_benignFamilial_hypokalemia-hypomagnesemia0.030570.05232HET Link to ClinVar
255891255845BenignFamilial_hypokalemia-hypomagnesemia
not_specified
0.287170.33966HET Link to ClinVar
319924325868BenignFamilial_hypokalemia-hypomagnesemia.0.59125HET Link to ClinVar
319930341960BenignFamilial_hypokalemia-hypomagnesemia.0.54094HET Link to ClinVar
319938343483BenignFamilial_hypokalemia-hypomagnesemia.0.59125HET Link to ClinVar
319942325884BenignFamilial_hypokalemia-hypomagnesemia.0.5613HET Link to ClinVar
319951325898BenignFamilial_hypokalemia-hypomagnesemia.0.53994HET Link to ClinVar
319957325902BenignFamilial_hypokalemia-hypomagnesemia.0.5619HET Link to ClinVar
319984343503BenignHyperalphalipoproteinemia_10.053550.05471HET Link to ClinVar
1752532564BenignHyperalphalipoproteinemia_1
High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_10
0.616480.53395HET Link to ClinVar
320000325942BenignHyperalphalipoproteinemia_1.0.15535HET Link to ClinVar
369116353345BenignHyperalphalipoproteinemia_1.0.76617HOM Link to ClinVar
683585668794Benignnot_provided..HOM Link to ClinVar
683587668355Benignnot_provided..HOM Link to ClinVar
320014325945Likely_benignCoenzyme_Q10_deficiency,_primary.0.11641HET Link to ClinVar
320015325947BenignCoenzyme_Q10_deficiency,_primary.0.99261HOM Link to ClinVar
679870667748Benignnot_provided..HOM Link to ClinVar
683313669039Benignnot_provided..HET Link to ClinVar
137493141196Benign/Likely_benignnot_specified
not_provided
.0.72085HOM Link to ClinVar
158640169286Benignnot_specified
not_provided
0.199780.11302HET Link to ClinVar
158641169287Benignnot_specified
not_provided
0.756580.81669HOM Link to ClinVar
158615169291Benignnot_specified.0.29094HET Link to ClinVar
683315668636Benignnot_provided..HET Link to ClinVar
681781668790Benignnot_provided..HET Link to ClinVar
259865255850Benignnot_specified0.756440.84784HET Link to ClinVar
712324726711Benignnot_provided..HET Link to ClinVar
320027335611Likely_benignRetinitis_Pigmentosa,_Recessive.0.08566HOM Link to ClinVar
320028342033Likely_benignRetinitis_Pigmentosa,_Recessive.0.10963HOM Link to ClinVar
320046342038Likely_benignRetinitis_Pigmentosa,_Recessive.0.08946HOM Link to ClinVar
320053335659Likely_benignRetinitis_Pigmentosa,_Recessive0.0720.08546HOM Link to ClinVar
320059326000Benign/Likely_benignRetinitis_pigmentosa_45
Retinitis_Pigmentosa,_Recessive
0.310640.37021HOM Link to ClinVar
194492191655Benign/Likely_benignRetinitis_pigmentosa_45
not_specified
Retinitis_Pigmentosa,_Recessive
0.543040.40076HET Link to ClinVar
320109335733Benign/Likely_benignRetinitis_pigmentosa_45
Retinitis_Pigmentosa,_Recessive
0.430420.3141HET Link to ClinVar
320110342070BenignRetinitis_pigmentosa_45
Retinitis_Pigmentosa,_Recessive
.0.752HOM Link to ClinVar
402549390165Benignnot_specified..HET Link to ClinVar
320206343681BenignEEM_syndrome... Link to ClinVar
320212343691BenignEEM_syndrome.0.17093HET Link to ClinVar
677162668527Benignnot_provided..HET Link to ClinVar
320227342177BenignEEM_syndrome.0.13978HET Link to ClinVar
320229326126BenignEEM_syndrome
not_provided
0.5940.60783HET Link to ClinVar
320230343710BenignEEM_syndrome
not_provided
0.593960.60783HET Link to ClinVar
320243342183BenignEEM_syndrome
not_provided
0.588110.59744HET Link to ClinVar
320250342187BenignEEM_syndrome
not_provided
0.578560.57448HET Link to ClinVar
320258342193BenignEEM_syndrome.0.8109HET Link to ClinVar
136692140395BenignHereditary_cancer-predisposing_syndrome
Hereditary_diffuse_gastric_cancer
not_specified
not_provided
0.811140.76338HET Link to ClinVar
676887668405Benignnot_provided..HET Link to ClinVar
142770152484BenignHereditary_cancer-predisposing_syndrome
Hereditary_diffuse_gastric_cancer
not_specified
not_provided
0.654810.71865HOM Link to ClinVar
320281326168BenignHereditary_diffuse_gastric_cancer.0.10304HET Link to ClinVar
369122353351BenignHereditary_diffuse_gastric_cancer.0.99481HOM Link to ClinVar
225971227789drug_responseanthracyclines_and_related_substances_response_-_Toxicity/ADR.0.34225HET Link to ClinVar
676109668529Benignnot_provided..HET Link to ClinVar
96220102114Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
.0.25759HET Link to ClinVar
1680931848drug_responseLung_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
0.245160.28894HET Link to ClinVar
320325335871BenignCharcot-Marie-Tooth_disease,_type_2
Charcot-Marie-Tooth_disease,_type_2N
not_provided
0.82410.88119HOM Link to ClinVar
676230667573Benignnot_provided..HET Link to ClinVar
803270791639BenignCongenital_disorder_of_glycosylation_type_2J..HOM Link to ClinVar
95699101596BenignCongenital_disorder_of_glycosylation
not_specified
0.45110.47025HOM Link to ClinVar
380059377764Benignnot_specified0.063520.04633HET Link to ClinVar
95697101594BenignCongenital_disorder_of_glycosylation
Congenital_disorder_of_glycosylation_type_2J
not_specified
0.947430.95947HOM Link to ClinVar
402954390205Benignnot_specified.0.999HOM Link to ClinVar
402955390115BenignCiliary_dyskinesia,_primary,_5
not_specified
0.616420.45387HET Link to ClinVar
808074797374Uncertain_significancenot_provided..HET Link to ClinVar
402956390310Benignnot_specified0.408710.46725HET Link to ClinVar
402957390116Benignnot_specified0.38474.HET Link to ClinVar
402958390175Benignnot_specified0.041170.01857HET Link to ClinVar
402959390176Benignnot_specified0.372990.40535HET Link to ClinVar
320449336023BenignMiller_syndrome.0.54453HOM Link to ClinVar
320453326286BenignMiller_syndrome.0.54373HOM Link to ClinVar
320459336034BenignMiller_syndrome.0.54493HOM Link to ClinVar
320461336037BenignMiller_syndrome.0.54393HOM Link to ClinVar
768789703799Benignnot_provided..HOM Link to ClinVar
768791703805Benignnot_provided..HOM Link to ClinVar
320466326302BenignSpastic_paraplegia_35.0.2504HOM Link to ClinVar
320477342319BenignSpastic_paraplegia_35.0.23782HET Link to ClinVar
129032134478Benign/Likely_benignSpastic_paraplegia_35
not_specified
0.119510.11601HET Link to ClinVar
129031134477BenignSpastic_paraplegia_35
not_specified
0.77320.72524HOM Link to ClinVar
680134668415Benignnot_provided..HET Link to ClinVar
129028134474BenignSpastic_paraplegia_35
not_specified
0.35870.249HET Link to ClinVar
369127353356BenignSpastic_paraplegia_35
not_provided
.0.6851HOM Link to ClinVar
320505336068BenignMacular_corneal_dystrophy_Type_I.0.65815HOM Link to ClinVar
320507343959BenignMacular_corneal_dystrophy_Type_I.0.79273HOM Link to ClinVar
320519342351BenignMacular_corneal_dystrophy_Type_I.0.38439HET Link to ClinVar
320520336084BenignMacular_corneal_dystrophy_Type_I.0.51438HET Link to ClinVar
320527326345BenignMacular_corneal_dystrophy_Type_I.0.54074HET Link to ClinVar
320531343972BenignMacular_corneal_dystrophy_Type_I.0.46586HET Link to ClinVar
320539343978BenignMacular_corneal_dystrophy_Type_I..HET Link to ClinVar
320552342363BenignMacular_corneal_dystrophy_Type_I.0.20787HET Link to ClinVar
320557336122BenignMacular_corneal_dystrophy_Type_I.0.52177HET Link to ClinVar
320558326366BenignMacular_corneal_dystrophy_Type_I.0.97664HOM Link to ClinVar
320559342366BenignMacular_corneal_dystrophy_Type_I.0.53195HET Link to ClinVar
320561326370BenignMacular_corneal_dystrophy_Type_I..HET Link to ClinVar
320567326376BenignMacular_corneal_dystrophy_Type_I.0.50799HET Link to ClinVar
320596326392BenignMacular_corneal_dystrophy_Type_I.0.55671HOM Link to ClinVar
320611342409Benign/Likely_benignMacular_corneal_dystrophy_Type_I.0.01757HET Link to ClinVar
130591136037Benignnot_specified0.174020.27017HET Link to ClinVar
669396668419Benignnot_provided..HET Link to ClinVar
130587136033BenignJoubert_syndrome_20
not_specified
0.281330.28914HET Link to ClinVar
803274791643BenignMicrocornea,_myopic_chorioretinal_atrophy,_and_telecanthus..HOM Link to ClinVar
670330667608Benignnot_provided..HET Link to ClinVar
260738255878Benignnot_specified.0.17592HET Link to ClinVar
670331668900Benignnot_provided..HET Link to ClinVar
670333668429Benignnot_provided..HET Link to ClinVar
260739255879Benignnot_specified
not_provided
0.748210.78914HOM Link to ClinVar
586944577569Benignnot_provided0.459470.47224HET Link to ClinVar
260740255880BenignEpileptic_encephalopathy,_early_infantile,_1
not_specified
not_provided
.0.26338HET Link to ClinVar
668842667618Likely_benignnot_provided..HET Link to ClinVar
540240530280Benignnot_provided.0.50399HET Link to ClinVar
670869668476Benignnot_provided..HOM Link to ClinVar
682664668481Benignnot_provided..HOM Link to ClinVar
673442668624Benignnot_provided..HOM Link to ClinVar
680312668955Benignnot_provided..HOM Link to ClinVar
680313668634Benignnot_provided..HET Link to ClinVar
682665668635Benignnot_provided..HET Link to ClinVar
682666668483Benignnot_provided..HOM Link to ClinVar
680740668637Benignnot_provided..HET Link to ClinVar
637432625349Benignnot_specified
not_provided
..HET Link to ClinVar
669768667627Benignnot_provided..HET Link to ClinVar
681702668490Benignnot_provided..HET Link to ClinVar
682667668494Benignnot_provided..HET Link to ClinVar
680741668639Benignnot_provided..HET Link to ClinVar
129131134577BenignGiant_axonal_neuropathy_1
not_specified
0.195440.15116HET Link to ClinVar
681715668501Benignnot_provided..HET Link to ClinVar
320664336177Likely_benignGiant_axonal_neuropathy_1.0.01298HET Link to ClinVar
320668344092BenignGiant_axonal_neuropathy_1.0.6276HET Link to ClinVar
320674336184BenignGiant_axonal_neuropathy_1.0.67113HET Link to ClinVar
320678342450BenignGiant_axonal_neuropathy_1.0.64177HET Link to ClinVar
320683336191BenignGiant_axonal_neuropathy_1.0.30551HET Link to ClinVar
320688326450Uncertain_significanceGiant_axonal_neuropathy_1.0.002HET Link to ClinVar
403316390119Benignnot_specified0.724770.73323HOM Link to ClinVar
403317390125Benignnot_specified.0.21206HET Link to ClinVar
403318390128Benignnot_specified0.550930.54113HET Link to ClinVar
403320390208Benignnot_specified0.41580.40655HET Link to ClinVar
403322390314Benignnot_specified.0.77496HOM Link to ClinVar
403323390182Benignnot_specified.0.51977HET Link to ClinVar
403324390147Benignnot_specified0.448670.3139HET Link to ClinVar
257644255899Benignnot_specified0.995930.9387HOM Link to ClinVar
257649255902Benignnot_specified.0.53415HOM Link to ClinVar
257647255908Benignnot_specified0.810780.81609HOM Link to ClinVar
95501101400BenignDeficiency_of_malonyl-CoA_decarboxylase
not_specified
.0.95707HOM Link to ClinVar
768800778222Benignnot_provided..HET Link to ClinVar
291145275382Benignnot_specified.0.58506HET Link to ClinVar
163086176164BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_13
not_specified
not_provided
0.527990.53175HET Link to ClinVar
262933255935BenignPrimary_ciliary_dyskinesia
not_specified
0.510630.5018HET Link to ClinVar
402596390214Benignnot_specified0.400750.32029HET Link to ClinVar
320801336334BenignPersistent_fetal_circulation.0.85024HOM Link to ClinVar
320809336352BenignPersistent_fetal_circulation..HET Link to ClinVar
320818344175BenignPersistent_fetal_circulation.0.81789HOM Link to ClinVar
320822344178BenignPersistent_fetal_circulation.0.52736HET Link to ClinVar
320831344180BenignPersistent_fetal_circulation... Link to ClinVar
379947375545Benignnot_specified
not_provided
0.429880.27796HET Link to ClinVar
193177190342BenignBrittle_cornea_syndrome_1
not_specified
0.982730.98902HOM Link to ClinVar
193178190343BenignBrittle_cornea_syndrome_1
not_specified
.0.85503HOM Link to ClinVar
320866336441BenignBrittle_cornea_syndrome_1
not_specified
0.999550.99161HOM Link to ClinVar
320872336442BenignBrittle_cornea_syndrome_1
not_specified
0.944360.8748HOM Link to ClinVar
193173190338BenignBrittle_cornea_syndrome_1
not_specified
11HOM Link to ClinVar
285444269681BenignBrittle_cornea_syndrome_1
not_specified
0.960310.90256HOM Link to ClinVar
285445269682BenignBrittle_cornea_syndrome_1
not_specified
0.902170.81889HOM Link to ClinVar
281205265442BenignBrittle_cornea_syndrome_1
not_specified
0.874830.84425HOM Link to ClinVar
285042269279BenignBrittle_cornea_syndrome_1
not_specified
0.927770.84645HOM Link to ClinVar
320943336479BenignBrittle_cornea_syndrome_1
not_specified
0.864780.77955HOM Link to ClinVar
288513272750BenignBrittle_cornea_syndrome_1
not_specified
0.534510.47005HOM Link to ClinVar
195125192286BenignBrittle_cornea_syndrome_1
not_specified
0.998340.99621HOM Link to ClinVar
195114192275BenignBrittle_cornea_syndrome_1
not_specified
0.999810.9992HOM Link to ClinVar
321031326742BenignBrittle_cornea_syndrome_1
not_specified
0.788550.79633HOM Link to ClinVar
321034336532BenignBrittle_cornea_syndrome_1
not_specified
0.995740.98722HOM Link to ClinVar
321047342833BenignBrittle_cornea_syndrome_1..HOM Link to ClinVar
321051342834BenignBrittle_cornea_syndrome_1.0.94728HOM Link to ClinVar
321056342835BenignBrittle_cornea_syndrome_1.0.98622HOM Link to ClinVar
321059336547BenignBrittle_cornea_syndrome_1..HOM Link to ClinVar
321064344469BenignBrittle_cornea_syndrome_1.0.84086HOM Link to ClinVar
198042195203Benignnot_specified0.689230.73742HET Link to ClinVar
226317302BenignCYBA_POLYMORPHISM
Very_early_onset_inflammatory_bowel_disease
Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative
not_specified
0.690830.66434HET Link to ClinVar
196207193368Benignnot_specified0.482070.36601HET Link to ClinVar
440040433792Benignnot_specified0.889560.86781HOM Link to ClinVar
440041433793Benignnot_specified0.592240.6857HOM Link to ClinVar
440048433800Benignnot_specified0.896480.89197HOM Link to ClinVar
440055433807Benignnot_specified0.053930.03614HET Link to ClinVar
440049433801Benignnot_specified.0.85244HET Link to ClinVar
381268377889Benignnot_specified0.831650.85963HET Link to ClinVar
440050433802Benignnot_specified0.850980.8726HET Link to ClinVar
440042433794Benignnot_specified0.849150.8722HET Link to ClinVar
440058433810Benignnot_specified0.100170.10543HET Link to ClinVar
440039433791Benignnot_specified0.324280.43031HET Link to ClinVar
440051433803Benignnot_specified0.69420.75719HOM Link to ClinVar
440054433806Benignnot_specified.0.03834HET Link to ClinVar
440043433795BenignLymphedema,_hereditary,_III
not_specified
0.78230.82029HET Link to ClinVar
440046433798Benignnot_specified0.866190.90935HOM Link to ClinVar
440047433799Benignnot_specified0.33630.29932HOM Link to ClinVar
128680134129BenignMeier-Gorlin_syndrome_4
not_specified
0.999340.9998HOM Link to ClinVar
128683134132BenignMeier-Gorlin_syndrome_4
not_specified
0.818340.87021HOM Link to ClinVar
388732375615Uncertain_significancenot_provided0.000650.0012HET Link to ClinVar
203598200301Benignnot_specified..HOM Link to ClinVar
136269139972Benignnot_specified0.699850.6244HOM Link to ClinVar
136271139974Benignnot_specified.0.84924HOM Link to ClinVar
136272139975Benignnot_specified0.707190.61901HOM Link to ClinVar
136273139976Benignnot_specified0.707780.61981HOM Link to ClinVar
136274139977Benignnot_specified0.71050.61981HOM Link to ClinVar
136275139978Benignnot_specified0.71060.61981HOM Link to ClinVar
136276139979Benignnot_specified.0.61921HOM Link to ClinVar
439364433338BenignCombined_malonic_and_methylmalonic_aciduria0.05429.HET Link to ClinVar
128641134090Likely_benignnot_specified0.193860.17552HET Link to ClinVar
128646134095Benignnot_specified0.499170.45308HET Link to ClinVar
128647134096Likely_benignnot_specified0.507410.4998HET Link to ClinVar
587797580427BenignAutism_spectrum_disorder0.637850.53355HOM Link to ClinVar
707161693969Benignnot_provided..HET Link to ClinVar
670118667657Benignnot_provided..HET Link to ClinVar
669572668688Benignnot_provided..HET Link to ClinVar
670123668692Benignnot_provided..HET Link to ClinVar
670124668549Benignnot_provided..HET Link to ClinVar
258910255958BenignSpastic_paraplegia_7
not_specified
Spastic_Paraplegia,_Recessive
0.477150.52935HET Link to ClinVar
671136668714Benignnot_provided..HET Link to ClinVar
670125668716Benignnot_provided..HET Link to ClinVar
258911255959BenignSpastic_paraplegia_7
not_specified
Spastic_Paraplegia,_Recessive
not_provided
.0.52935HET Link to ClinVar
670126667663Benignnot_provided..HET Link to ClinVar
669951668551Benignnot_provided..HET Link to ClinVar
684094668720Benignnot_provided..HET Link to ClinVar
130369135816Benign/Likely_benignSpastic_paraplegia_7
not_specified
Spastic_Paraplegia,_Recessive
not_provided
0.150710.10643HET Link to ClinVar
670128668563Benignnot_provided..HET Link to ClinVar
670129669000Benignnot_provided..HOM Link to ClinVar
667498668565Benignnot_provided..HET Link to ClinVar
671694668722Benignnot_provided..HET Link to ClinVar
130370135817Benign/Likely_benignSpastic_paraplegia_7
not_specified
Spastic_Paraplegia,_Recessive
not_provided
0.150910.10583HET Link to ClinVar
321297326827Likely_benignSpastic_Paraplegia,_Recessive..HET Link to ClinVar
680112669003Benignnot_provided..HET Link to ClinVar
680104667705Benignnot_provided..HET Link to ClinVar
679125668737Benignnot_provided..HET Link to ClinVar
668086667711Benignnot_provided..HET Link to ClinVar
1431129350BenignSkin/hair/eye_pigmentation_2,_blond_hair/fair_skin
Malignant_Melanoma_Susceptibility
not_specified
0.083210.03534HET Link to ClinVar
670259667719Benignnot_provided..HOM Link to ClinVar
402891390188Benignnot_specified0.324010.26438HET Link to ClinVar
402894390321Benignnot_specified.0.84425HOM Link to ClinVar
667586669450Benignnot_provided..HET Link to ClinVar
380878378523Benignnot_specified0.278440.34864HET Link to ClinVar
667585669170Benignnot_provided..HET Link to ClinVar
670837669005Benignnot_provided..HET Link to ClinVar
670836668251Benignnot_provided..HET Link to ClinVar
380877375663Benignnot_specified0.186260.22105HET Link to ClinVar
667584669547Benignnot_provided..HOM Link to ClinVar
669397669304Benignnot_provided..HET Link to ClinVar
670835669307Benignnot_provided..HET Link to ClinVar
671930669310Benignnot_provided..HET Link to ClinVar
670268656467Benignnot_provided..HET Link to ClinVar
671876669560Benignnot_provided..HET Link to ClinVar
768812703962Benignnot_provided..HET Link to ClinVar
260033256080Benignnot_specified0.414150.36262HET Link to ClinVar
508101505951Benignnot_specified0.725220.71166HOM Link to ClinVar
508100505952Benignnot_specified0.863230.82089HOM Link to ClinVar
508157505968Benignnot_specified0.11170.06629HET Link to ClinVar
683015669145Benignnot_provided..HET Link to ClinVar
321889337224Likely_benignRetinitis_Pigmentosa,_Dominant0.217140.27356HET Link to ClinVar
321898343473Likely_benignRetinitis_Pigmentosa,_Dominant0.212930.26158HET Link to ClinVar
321906343496Likely_benignRetinitis_Pigmentosa,_Dominant0.2170.27236HET Link to ClinVar
321915343505Likely_benignRetinitis_Pigmentosa,_Dominant0.217360.27217HET Link to ClinVar
321917343509Likely_benignRetinitis_Pigmentosa,_Dominant0.187070.2504HET Link to ClinVar
130734136180Likely_benignnot_specified0.260620.23323HET Link to ClinVar
130735136181Likely_benignnot_specified0.269750.26717HET Link to ClinVar
130736136182Likely_benignnot_specified0.277430.29852HET Link to ClinVar
130739136185Likely_benignnot_specified0.281120.27895HET Link to ClinVar
130740136186Likely_benignnot_specified0.516350.53954HET Link to ClinVar
130741136187Benign/Likely_benignCerebellar_ataxia,_mental_retardation,_and_dysequilibrium_syndrome_2
not_specified
0.75260.76238HET Link to ClinVar
130744136190Likely_benignnot_specified0.734220.71765HET Link to ClinVar
674942668879Benignnot_provided..HET Link to ClinVar
322000337339BenignOsteogenesis_imperfecta,_type_VI
not_specified
Osteogenesis_Imperfecta,_Recessive
0.618820.6262HOM Link to ClinVar
667593668883Benignnot_provided..HET Link to ClinVar
667594668885Benignnot_provided..HET Link to ClinVar
674943668893BenignOsteogenesis_imperfecta,_type_VI
not_provided
..HET Link to ClinVar
674945667837Benignnot_provided..HET Link to ClinVar
674946669188Benignnot_provided..HET Link to ClinVar
674948669190Benignnot_provided..HET Link to ClinVar
322012343606BenignOsteogenesis_imperfecta,_type_VI
not_specified
Osteogenesis_Imperfecta,_Recessive
0.729240.77676HET Link to ClinVar
667540668929Benignnot_provided..HOM Link to ClinVar
159528169359Benignnot_specified
not_provided
0.914850.89237HOM Link to ClinVar
667794668773Benignnot_provided..HOM Link to ClinVar
674160668778Benignnot_provided..HOM Link to ClinVar
667542669231Benignnot_provided..HOM Link to ClinVar
673026668938Benignnot_provided..HET Link to ClinVar
4217551341BenignLissencephaly_1
not_specified
Lissencephaly/Subcortical_Band_Heterotopia
0.212040.13858HET Link to ClinVar
322281345238BenignLissencephaly/Subcortical_Band_Heterotopia.0.83666HOM Link to ClinVar
322300343787Likely_benignLissencephaly/Subcortical_Band_Heterotopia.0.001HET Link to ClinVar
322332343814Uncertain_significanceLissencephaly/Subcortical_Band_Heterotopia..HET Link to ClinVar
322681328033BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.14058HET Link to ClinVar
322682344101BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.43431HET Link to ClinVar
322692337867BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.94329HOM Link to ClinVar
322694344105BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.94249HOM Link to ClinVar
322696345500BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.84545HOM Link to ClinVar
322699345504BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.94229HOM Link to ClinVar
322701337879BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.13978HET Link to ClinVar
322709344111BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.94509HOM Link to ClinVar
322719344115BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.13958HET Link to ClinVar
322720345531BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.43411HET Link to ClinVar
322723337891BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.90575HOM Link to ClinVar
322728337904BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.5649HET Link to ClinVar
322730345539BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.92093HOM Link to ClinVar
322731328071BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.36701HET Link to ClinVar
322735337920BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.46805HET Link to ClinVar
322741337926BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.99601HOM Link to ClinVar
322788337972BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.57907HOM Link to ClinVar
322795345570BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques0.640450.66254HOM Link to ClinVar
322796344159Benign/Likely_benignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques
not_provided
0.009220.00319HET Link to ClinVar
322799345577BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques0.999430.9972HOM Link to ClinVar
322806328144BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.26797HET Link to ClinVar
322811328145BenignPalmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques.0.69229HET Link to ClinVar
791431715392Benignnot_provided..HET Link to ClinVar
189125186968BenignNephropathic_cystinosis.0.86122HET Link to ClinVar
558924549742Benignnot_provided0.95380.84525HOM Link to ClinVar
683626667876Benignnot_provided..HET Link to ClinVar
257157256153BenignNephropathic_cystinosis
Cystinosis
not_specified
not_provided
0.918280.81829HOM Link to ClinVar
257152256155BenignNephropathic_cystinosis
Cystinosis
not_specified
not_provided
0.251420.22863HET Link to ClinVar
322892345655BenignNephropathic_cystinosis
Cystinosis
.0.74201HET Link to ClinVar
322899328216Uncertain_significanceNephropathic_cystinosis
Cystinosis
.0.00759HET Link to ClinVar
322913328225BenignNephropathic_cystinosis
Cystinosis
.0.63838HOM Link to ClinVar
322914328229BenignNephropathic_cystinosis
Cystinosis
.0.76757HOM Link to ClinVar
322920328241BenignNephropathic_cystinosis
Cystinosis
.0.36162HET Link to ClinVar
403283390187Benignnot_specified..HET Link to ClinVar
768821778471Benignnot_provided..HOM Link to ClinVar
721195731146Benignnot_provided..HET Link to ClinVar
226006227792drug_responsenot_specified
aspirin_response_-_Efficacy
0.097960.13159HET Link to ClinVar
255467256260Benignnot_specified0.153480.84225HOM Link to ClinVar
324134339128BenignGlycogen_storage_disease_type_13
not_specified
.0.32608HET Link to ClinVar
324136346462BenignGlycogen_storage_disease_type_13
not_specified
not_provided
0.649280.5641HOM Link to ClinVar
324138339134BenignGlycogen_storage_disease_type_13
not_specified
not_provided
0.460610.30391HET Link to ClinVar
403467390198Benignnot_specified0.783820.70288HOM Link to ClinVar
682849669096Benignnot_provided..HET Link to ClinVar
516675506467Benignnot_specified..HET Link to ClinVar
682850669100Benignnot_provided..HET Link to ClinVar
424675411591Conflicting_interpretations_of_pathogenicityHereditary_spastic_paraplegia
not_specified
not_provided
0.003510.0006HET Link to ClinVar
380828378498Benignnot_specified0.111720.0629HET Link to ClinVar
380827376339Benignnot_specified0.714280.67512HET Link to ClinVar
684053656452Benignnot_provided..HOM Link to ClinVar
684048656453Benignnot_provided..HOM Link to ClinVar
403240390199Benignnot_specified0.454850.41793HET Link to ClinVar
416319202risk_factorVitiligo-associated_multiple_autoimmune_disease_susceptibility_10.374950.19209HOM Link to ClinVar
324569339690Likely_benignLeber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
.0.04712HET Link to ClinVar
324577339707Likely_benignLeber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
.0.12121HET Link to ClinVar
324579329421Likely_benignLeber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
.0.07508HET Link to ClinVar
324587339716Likely_benignLeber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
.0.19649HET Link to ClinVar
324594339722Likely_benignLeber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
.0.61562HET Link to ClinVar
99805105694Benign/Likely_benignLeber_congenital_amaurosis
not_specified
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
not_provided
0.724980.71366HET Link to ClinVar
166655177472Benign/Likely_benignLeber_congenital_amaurosis
not_specified
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
0.634590.57588HET Link to ClinVar
99789105678Likely_benignLeber_congenital_amaurosis
Retinitis_Pigmentosa,_Dominant
Retinitis_Pigmentosa,_Recessive
not_provided
0.021920.00619HET Link to ClinVar
324659345498BenignCone-Rod_Dystrophy,_Dominant..HOM Link to ClinVar
324663345511Uncertain_significanceCone-Rod_Dystrophy,_Dominant..HET Link to ClinVar
324671346833Uncertain_significanceCone-Rod_Dystrophy,_Dominant..HOM Link to ClinVar
324683339763BenignCone-Rod_Dystrophy,_Dominant.0.33307HET Link to ClinVar
324731339793BenignCone-Rod_Dystrophy,_Dominant.0.70567HOM Link to ClinVar
324732339795BenignCone-Rod_Dystrophy,_Dominant..HOM Link to ClinVar
324737346872BenignCone-Rod_Dystrophy,_Dominant.0.4367HOM Link to ClinVar
261946256341Benignnot_specified
Cone-Rod_Dystrophy,_Dominant
not_provided
0.868710.91394HOM Link to ClinVar
667465669067Benignnot_provided..HET Link to ClinVar
672845668237Benignnot_provided..HET Link to ClinVar
667464669271Benignnot_provided..HET Link to ClinVar
668854668239Benignnot_provided..HET Link to ClinVar
670097669068Benignnot_provided..HET Link to ClinVar
672844669070Benignnot_provided..HET Link to ClinVar
670096669288Benignnot_provided..HET Link to ClinVar
670095669076Benignnot_provided..HET Link to ClinVar
672896669535Likely_benignnot_provided..HET Link to ClinVar
786837715660Benignnot_provided..HET Link to ClinVar
166637177462BenignVery_long_chain_acyl-CoA_dehydrogenase_deficiency
not_specified
.0.46785HET Link to ClinVar
9227798188BenignVery_long_chain_acyl-CoA_dehydrogenase_deficiency
not_specified
0.600030.51977HET Link to ClinVar
679141669333Benignnot_provided..HET Link to ClinVar
128752134201Benign/Likely_benignnot_specified
Congenital_Myasthenic_Syndrome,_Dominant/Recessive
0.17480.1873HET Link to ClinVar
256772256403Benignnot_specified
not_provided
0.990880.96705HOM Link to ClinVar
679143669339Benignnot_provided..HET Link to ClinVar
256773256404Benignnot_specified0.17560.18291HET Link to ClinVar
325109345778BenignCongenital_Myasthenic_Syndrome,_Dominant/Recessive.0.30571HET Link to ClinVar
325112345779Likely_benignCongenital_Myasthenic_Syndrome,_Dominant/Recessive.0.18191HET Link to ClinVar
325511345999Likely_benignCongenital_disorder_of_glycosylation.0.24062HET Link to ClinVar
325524330041BenignCongenital_disorder_of_glycosylation0.809470.68191HET Link to ClinVar
325623340457Likely_benignLi-Fraumeni_syndrome.0.05711HET Link to ClinVar
256603256462Benignnot_specified.0.83367HET Link to ClinVar
440348433983Benignnot_specified.0.84285HET Link to ClinVar
803309791833Likely_benignSquamous_cell_carcinoma_of_the_head_and_neck..HET Link to ClinVar
695142685438Benignnot_provided..HET Link to ClinVar
256604256464Benignnot_specified0.065870.07768HET Link to ClinVar
260999256472Benignnot_specified
Dyskeratosis_Congenita,_Recessive
.0.51118HET Link to ClinVar
402705390368Benignnot_specified0.129920.08626HET Link to ClinVar
402707390242Benignnot_specified.0.35803HET Link to ClinVar
402708390253Benignnot_specified0.242340.12041HET Link to ClinVar
402709390245Benignnot_specified0.874170.76138HOM Link to ClinVar
402710390251Benignnot_specified0.602730.53395HOM Link to ClinVar
402712390252Benignnot_specified0.280490.17133HET Link to ClinVar
402713390255Benignnot_specified0.605870.61102HET Link to ClinVar
935324392BenignLeber_congenital_amaurosis_1
not_specified
not_provided
0.521140.41594HOM Link to ClinVar
257554256545BenignCongenital_ichthyosiform_erythroderma
not_specified
0.375970.45447HOM Link to ClinVar
325934340784BenignCongenital_ichthyosiform_erythroderma.0.38139HET Link to ClinVar
325949330553BenignCongenital_ichthyosiform_erythroderma.0.48203HET Link to ClinVar
325991346455BenignDyskeratosis_Congenita,_Recessive.0.33307HET Link to ClinVar
128861134309Benignnot_specified
Dyskeratosis_Congenita,_Recessive
0.750860.66354HET Link to ClinVar
128860134308Benignnot_specified
Dyskeratosis_Congenita,_Recessive
0.950740.9373HET Link to ClinVar
261822256553Benignnot_specified
Dyskeratosis_Congenita,_Recessive
.1HOM Link to ClinVar
129893135339Benignnot_specified0.410790.44349HET Link to ClinVar
129894135340Benignnot_specified0.41030.44269HET Link to ClinVar
692209679951Uncertain_significanceNonsyndromic_cleft_lip_with_or_without_cleft_palate..HET Link to ClinVar
129678135124Benign/Likely_benignHecht_syndrome
not_specified
0.509580.48542HOM Link to ClinVar
129674135120Benign/Likely_benignHecht_syndrome
not_specified
0.502490.47364HOM Link to ClinVar
129680135126Benign/Likely_benignHecht_syndrome
not_specified
0.92240.86242HET Link to ClinVar
258701256041Benignnot_specified.0.51418HET Link to ClinVar
258698256045Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.641320.51358HET Link to ClinVar
258694256046Likely_benignnot_specified0.035980.04054HET Link to ClinVar
258691256048Benignnot_specified.0.72384HOM Link to ClinVar
258690256049Benignnot_specified0.609510.46685HET Link to ClinVar
129663135109Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.608950.46965HET Link to ClinVar
129658135104Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.690180.58646HOM Link to ClinVar
129656135102Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
.0.46645HET Link to ClinVar
129653135099Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.60940.46645HET Link to ClinVar
258676256059Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.608850.46645HET Link to ClinVar
129652135098Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.608520.46625HET Link to ClinVar
129651135097Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.042910.0617HET Link to ClinVar
129650135096Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.608520.46645HET Link to ClinVar
258673256062Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.613990.46665HET Link to ClinVar
129649135095Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
..HET Link to ClinVar
129648135094Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
0.042920.0617HET Link to ClinVar
321752337081Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
... Link to ClinVar
258671256063Benign/Likely_benignArthrogryposis_multiplex_congenita
Freeman-Sheldon_syndrome
not_specified
.0.52596HOM Link to ClinVar
258668256066Benignnot_specified0.60750.46605HET Link to ClinVar
258667256067Benignnot_specified0.607320.46426HET Link to ClinVar
258695256072Benignnot_specified0.650510.52576HOM Link to ClinVar
258682256077Benignnot_specified0.607620.46406HET Link to ClinVar
321780344879BenignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
.0.47784HET Link to ClinVar
321785344888BenignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
.1HOM Link to ClinVar
683702668791Benignnot_provided..HET Link to ClinVar
676257668646Benignnot_provided..HET Link to ClinVar
683701668648Benignnot_provided..HET Link to ClinVar
402773390159Benignnot_specified0.452160.44329HET Link to ClinVar
402776390325Benignnot_specified0.972190.94788HOM Link to ClinVar
402777390327Benignnot_specified0.79380.77017HET Link to ClinVar
402778390221Benignnot_specified0.221340.22464HET Link to ClinVar
402780390330Benignnot_specified0.346860.35344HET Link to ClinVar
402782390174Benignnot_specified.0.40355HET Link to ClinVar
402783390235Benignnot_specified0.452830.38598HET Link to ClinVar
402786390179Benignnot_specified0.180150.16374HET Link to ClinVar
402788390186Benignnot_specified0.184080.16014HET Link to ClinVar
674688668792Benignnot_provided..HOM Link to ClinVar
379967378068Benignnot_specified0.27160.20847HET Link to ClinVar
683498668830Benignnot_provided..HET Link to ClinVar
683497668832Benignnot_provided..HET Link to ClinVar
321803343328BenignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
.0.99561HOM Link to ClinVar
137005140708Benign/Likely_benignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided
0.059460.03315HET Link to ClinVar
669477667774Benignnot_provided..HET Link to ClinVar
672514668839Benignnot_provided..HET Link to ClinVar
137006140709Benign/Likely_benignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided
0.076460.0615HET Link to ClinVar
137009140712BenignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided
0.494470.46386HET Link to ClinVar
137003140706BenignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
not_provided
0.522310.49181HOM Link to ClinVar
683592669120Benignnot_provided..HOM Link to ClinVar
136995140698BenignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
0.584970.54832HOM Link to ClinVar
321822327302Likely_benignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
.0.20168HOM Link to ClinVar
321839343366Likely_benignLeigh_syndrome
Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
.0.20188HOM Link to ClinVar
321853343376Likely_benignHereditary_liability_to_pressure_palsies
Charcot-Marie-Tooth_disease,_type_I
..HOM Link to ClinVar
321859343380BenignHereditary_liability_to_pressure_palsies
Charcot-Marie-Tooth_disease,_type_I
0.535080.59545HOM Link to ClinVar
677066667803Likely_benignnot_provided..HET Link to ClinVar
633487621914BenignCharcot-Marie-Tooth_disease,_type_I0.550190.61042HOM Link to ClinVar
667505668869Benignnot_provided..HOM Link to ClinVar
321969343401Likely_benignMitochondrial_complex_III_deficiency,_nuclear_type_10.493030.49441HOM Link to ClinVar
321984337188Likely_benignMitochondrial_complex_III_deficiency,_nuclear_type_10.446220.36741HOM Link to ClinVar
321990343431BenignColoboma,_Congenital_Heart_Disease,_Ichthyosiform_Dermatosis,_Intellectual_Disability,_and_Ear_Anomalies_(CHIME)_Syndrome0.413990.26737HOM Link to ClinVar
3687945540BenignCommon_variable_immunodeficiency_2
not_specified
Common_Variable_Immune_Deficiency,_Dominant
0.811190.89956HOM Link to ClinVar
322033343533BenignSpontaneous_pneumothorax
Multiple_fibrofolliculomas
.0.71306HOM Link to ClinVar
322048337305BenignSpontaneous_pneumothorax
Multiple_fibrofolliculomas
.0.71066HOM Link to ClinVar
96468102362BenignSpontaneous_pneumothorax
Multiple_fibrofolliculomas
not_specified
not_provided
0.502340.503HOM Link to ClinVar
96486102380BenignSpontaneous_pneumothorax
Multiple_fibrofolliculomas
not_specified
not_provided
0.484080.40515HOM Link to ClinVar
322082343588BenignSpontaneous_pneumothorax
Multiple_fibrofolliculomas
.0.42832HOM Link to ClinVar
322087337331BenignSpontaneous_pneumothorax
Multiple_fibrofolliculomas
.0.74321HOM Link to ClinVar
96183102077BenignSmith-Magenis_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.488180.66693HET Link to ClinVar
96194102088BenignSmith-Magenis_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.441670.5637HET Link to ClinVar
167558177998Uncertain_significancenot_provided0.00019.HET Link to ClinVar
96179102073BenignSmith-Magenis_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.506910.39976HET Link to ClinVar
96195102089BenignSmith-Magenis_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.421410.24062HET Link to ClinVar
669691669203Benignnot_provided..HET Link to ClinVar
669688668760Benignnot_provided..HET Link to ClinVar
322102345134Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.60743HET Link to ClinVar
322106343645Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.60703HET Link to ClinVar
195315192476Benign/Likely_benignDeafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.528880.55351HET Link to ClinVar
226778230693Benign/Likely_benignDeafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.525830.5659HET Link to ClinVar
226779230696Benign/Likely_benignDeafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
.0.49601HET Link to ClinVar
682532668764Benignnot_provided..HET Link to ClinVar
682533668766Benignnot_provided..HET Link to ClinVar
4575154916Benign/Likely_benignDeafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.713070.68431HET Link to ClinVar
4575354918Benign/Likely_benignDeafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.739480.71805HET Link to ClinVar
4575854923Benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.989470.98982HOM Link to ClinVar
4576154926Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.563590.39078HET Link to ClinVar
226789230743Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
.0.21026HET Link to ClinVar
4577454939Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.176720.15755HET Link to ClinVar
4577554940Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.18540.15695HET Link to ClinVar
4574454909Benign/Likely_benignDeafness,_autosomal_recessive_3
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.73120.72145HET Link to ClinVar
322191327624Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.15675HET Link to ClinVar
322196327635Likely_benignNonsyndromic_Hearing_Loss,_Recessive.0.72105HET Link to ClinVar
260675256099BenignMeckel_syndrome,_type_9
not_specified
0.59940.3105HOM Link to ClinVar
674719667861Benignnot_provided..HOM Link to ClinVar
322219345179BenignSjögren-Larsson_syndrome
not_provided
0.615410.67851HET Link to ClinVar
322237345207BenignSjögren-Larsson_syndrome..HET Link to ClinVar
322240327687BenignSjögren-Larsson_syndrome..HET Link to ClinVar
540420443risk_factorCardiac_conduction_defect,_susceptibility_to0.373650.39397HET Link to ClinVar
768841778368Benignnot_provided..HET Link to ClinVar
768842704020Benignnot_provided..HET Link to ClinVar
768843704021Benignnot_provided..HET Link to ClinVar
768849704027Likely_benignnot_provided..HET Link to ClinVar
768850778456Benignnot_provided..HET Link to ClinVar
218844215533Uncertain_significancenot_specified0.28464.HET Link to ClinVar
768852704029Likely_benignnot_provided..HET Link to ClinVar
768853704030Likely_benignnot_provided..HET Link to ClinVar
768854778324Benignnot_provided..HET Link to ClinVar
768855778240Benignnot_provided..HET Link to ClinVar
768856704032Likely_benignnot_provided..HET Link to ClinVar
768857704034Likely_benignnot_provided..HET Link to ClinVar
768858704035Likely_benignnot_provided..HET Link to ClinVar
768859704036Benignnot_provided..HET Link to ClinVar
768860704037Likely_benignnot_provided..HET Link to ClinVar
768861704038Benignnot_provided..HET Link to ClinVar
322335337587BenignCongenital_defect_of_folate_absorption.0.61741HOM Link to ClinVar
322336327762BenignCongenital_defect_of_folate_absorption.0.61741HOM Link to ClinVar
322341327778BenignCongenital_defect_of_folate_absorption..HET Link to ClinVar
322346345316BenignCongenital_defect_of_folate_absorption.0.61661HOM Link to ClinVar
322348345318BenignCongenital_defect_of_folate_absorption.0.61202HOM Link to ClinVar
322361327801BenignCongenital_defect_of_folate_absorption.0.53395HOM Link to ClinVar
322362345325BenignCongenital_defect_of_folate_absorption.0.75499HOM Link to ClinVar
322384343853BenignCongenital_defect_of_folate_absorption.0.60523HOM Link to ClinVar
322393345336BenignCongenital_defect_of_folate_absorption.0.54852HOM Link to ClinVar
379390374904Benignnot_specified0.714920.65076HET Link to ClinVar
379409375818Benignnot_specified0.385970.43071HET Link to ClinVar
322436337689BenignT-cell_immunodeficiency,_congenital_alopecia_and_nail_dystrophy
not_specified
0.322890.39277HET Link to ClinVar
322494345410BenignNephronophthisis.0.39078HET Link to ClinVar
259672256112Benignnot_specified
not_provided
0.217060.29074HET Link to ClinVar
322509327926Likely_benignBehavior_disorder.0.58107HOM Link to ClinVar
322518327928Likely_benignBehavior_disorder.0.48343HOM Link to ClinVar
322521343987Likely_benignBehavior_disorder.0.48522HOM Link to ClinVar
322546327950Likely_benignBehavior_disorder.0.79633HOM Link to ClinVar
561756552872Benignnot_provided.0.65256HET Link to ClinVar
561463552873Benignnot_provided.0.50998HET Link to ClinVar
257283256114Benignnot_specified
not_provided
0.6230.50978HET Link to ClinVar
561464552882Benignnot_provided.0.48842HET Link to ClinVar
183825184518Benign/Likely_benignHereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome
not_specified
not_provided
0.62280.51178HET Link to ClinVar
561465552890Benignnot_provided.0.47804HET Link to ClinVar
561466552891Benignnot_provided.0.49361HET Link to ClinVar
561757552900Benignnot_provided.0.51757HET Link to ClinVar
561758552901Benignnot_provided.0.51058HET Link to ClinVar
561759552902Benignnot_provided.0.47444HET Link to ClinVar
561468552904Benignnot_provided.0.61062HET Link to ClinVar
257276256117Benignnot_specified
not_provided
.0.47404HET Link to ClinVar
257277256119Benignnot_specified..HET Link to ClinVar
257278256120Benignnot_specified
not_provided
0.633970.47344HET Link to ClinVar
561760552913Benignnot_provided.0.46406HET Link to ClinVar
183826184580Benign/Likely_benignHereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome
not_specified
not_provided
0.382730.49681HET Link to ClinVar
561469552936Benignnot_provided.0.54613HET Link to ClinVar
561471552941Benignnot_provided.0.52616HET Link to ClinVar
257285256126Benignnot_specified0.367630.45807HET Link to ClinVar
561761552948Benignnot_provided.0.51158HET Link to ClinVar
403230390336Benignnot_specified.0.59185HET Link to ClinVar
561762552959Benignnot_provided.0.38039HET Link to ClinVar
257293256134Benignnot_specified
not_provided
0.600050.60583HET Link to ClinVar
257294256135Benignnot_specified
not_provided
0.536380.43191HET Link to ClinVar
561472552970Benignnot_provided.0.43171HET Link to ClinVar
561766552975Benignnot_provided.0.38039HET Link to ClinVar
561473552981Benignnot_provided.0.88678HOM Link to ClinVar
257300256140Benignnot_specified
not_provided
0.906850.8738HOM Link to ClinVar
561763552992Benignnot_provided.0.41514HET Link to ClinVar
561475552993Benignnot_provided.0.42452HET Link to ClinVar
257303256143Benignnot_specified
not_provided
.0.43091HET Link to ClinVar
561476553001Benignnot_provided.0.40236HET Link to ClinVar
561764553002Benignnot_provided.0.24581HET Link to ClinVar
322597345469Likely_benignNeurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome
.0.53055HET Link to ClinVar
322599327986BenignNeurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome
.0.55871HET Link to ClinVar
322603337817Likely_benignNeurofibromatosis,_type_1
Café-au-lait_macules_with_pulmonary_stenosis
Neurofibromatosis,_familial_spinal
Neurofibromatosis-Noonan_syndrome
.0.61262HET Link to ClinVar
805606793662Benignnot_provided..HET Link to ClinVar
805607793663Benignnot_provided..HET Link to ClinVar
805608793664Benignnot_provided..HET Link to ClinVar
679676668941Benignnot_provided..HOM Link to ClinVar
322635344170BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..HET Link to ClinVar
322663345589BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.8774HET Link to ClinVar
559340550067Benignnot_provided0.01370.04413HET Link to ClinVar
322940345691BenignFamilial_hypoplastic,_glomerulocystic_kidney0.852390.78035HET Link to ClinVar
3684345504BenignFamilial_hypoplastic,_glomerulocystic_kidney.0.65495HET Link to ClinVar
674360668961Benignnot_provided..HET Link to ClinVar
676878667882Benignnot_provided..HET Link to ClinVar
676876668964Benignnot_provided..HET Link to ClinVar
672693668785Benignnot_provided..HET Link to ClinVar
676904667884Benignnot_provided..HET Link to ClinVar
322994345722BenignCongenital_Stationary_Night_Blindness,_Recessive.0.30411HET Link to ClinVar
198441195602Benign/Likely_benignnot_specified
Congenital_Stationary_Night_Blindness,_Recessive
0.065250.03055HET Link to ClinVar
323028338237Uncertain_significanceCongenital_Stationary_Night_Blindness,_Recessive0.010020.00319HET Link to ClinVar
196294193455Benignnot_specified
Congenital_Stationary_Night_Blindness,_Recessive
0.1580.25859HET Link to ClinVar
672043669266Benignnot_provided..HOM Link to ClinVar
4470953876Benign/Likely_benignHypertrophic_cardiomyopathy
not_specified
Cardiovascular_phenotype
Dilated_Cardiomyopathy,_Dominant
Limb-Girdle_Muscular_Dystrophy,_Recessive
not_provided
0.67060.54972HOM Link to ClinVar
679984656430Benignnot_provided..HOM Link to ClinVar
135519139258not_providednot_specified0.176170.06589HET Link to ClinVar
134082137821not_providednot_specified0.606980.45208HOM Link to ClinVar
259020256161Benignnot_specified0.038470.02975HET Link to ClinVar
6617177068not_providednot_provided0.19740.13279HET Link to ClinVar
403023390196Benignnot_specified.0.63638HET Link to ClinVar
323070344363BenignWhite_sponge_nevus_of_cannon.0.6897HET Link to ClinVar
323084338280BenignWhite_sponge_nevus_of_cannon0.906030.79992HET Link to ClinVar
323093328372BenignWhite_sponge_nevus_of_cannon0.913940.82109HET Link to ClinVar
323096344370BenignWhite_sponge_nevus_of_cannon0.850890.70527HET Link to ClinVar
323101345815BenignWhite_sponge_nevus_of_cannon0.053450.07428HET Link to ClinVar
6654077437not_providednot_provided0.685720.73183HOM Link to ClinVar
6654477441not_providednot_provided0.6890.68411HOM Link to ClinVar
323120328390Likely_benignLocalized_epidermolytic_hyperkeratosis0.624140.64736HOM Link to ClinVar
323133344409Likely_benignLocalized_epidermolytic_hyperkeratosis0.628890.66314HOM Link to ClinVar
6615177048Likely_benignLocalized_epidermolytic_hyperkeratosis
not_provided
..HOM Link to ClinVar
323141338340Likely_benignLocalized_epidermolytic_hyperkeratosis0.729230.78095HOM Link to ClinVar
711995727165Likely_benignnot_provided..HET Link to ClinVar
6634677243Benignnot_specified
not_provided
0.637520.68051HOM Link to ClinVar
256364256164Benignnot_specified0.671510.68051HOM Link to ClinVar
771767704140Benignnot_provided..HET Link to ClinVar
323159344426Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease
.0.63219HOM Link to ClinVar
2130434156Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease
not_specified
Cardiovascular_phenotype
0.659240.58726HOM Link to ClinVar
672153668979Benignnot_provided..HOM Link to ClinVar
672152667894Benignnot_provided..HOM Link to ClinVar
261475256165Benignnot_specified
not_provided
0.710.71725HOM Link to ClinVar
261474256166Benignnot_specified
not_provided
0.67840.63898HOM Link to ClinVar
668841669272Benignnot_provided..HET Link to ClinVar
674289669278Likely_benignnot_provided..HET Link to ClinVar
258593256168Benignnot_specified0.763790.74421HOM Link to ClinVar
683546667899Benignnot_provided..HOM Link to ClinVar
4585155016Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease
Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12
not_specified
Cardiovascular_phenotype
0.049740.02396HET Link to ClinVar
4584555010Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease
not_specified
Cardiovascular_phenotype
.0.71566HET Link to ClinVar
673320668831Likely_benignnot_provided..HET Link to ClinVar
674288668990Likely_benignnot_provided..HET Link to ClinVar
516121505900Benignnot_specified..HOM Link to ClinVar
323175328421Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy
Naxos_disease
.0.65535HOM Link to ClinVar
516227506811Benignnot_specified0.077990.06589HET Link to ClinVar
682701669283Benignnot_provided..HET Link to ClinVar
682703668833Benignnot_provided..HET Link to ClinVar
682715668842Benignnot_provided..HET Link to ClinVar
674879668998Benignnot_provided..HET Link to ClinVar
323197338398BenignOsteogenesis_Imperfecta,_Recessive.0.78714HET Link to ClinVar
323199345864Uncertain_significanceOsteogenesis_Imperfecta,_Recessive..HET Link to ClinVar
323203345866BenignOsteogenesis_Imperfecta,_Recessive..HET Link to ClinVar
323218328440BenignHyper-IgE_syndrome.0.44988HOM Link to ClinVar
323258345919BenignFamilial_partial_lipodystrophy.0.85923HOM Link to ClinVar
323259344514BenignFamilial_partial_lipodystrophy.0.85982HOM Link to ClinVar
323260344515BenignFamilial_partial_lipodystrophy.0.85324HOM Link to ClinVar
323267344517BenignFamilial_partial_lipodystrophy.0.85982HOM Link to ClinVar
323268328498BenignFamilial_partial_lipodystrophy.0.53235HOM Link to ClinVar
323271338443BenignFamilial_partial_lipodystrophy.0.85982HOM Link to ClinVar
323275344522BenignFamilial_partial_lipodystrophy.0.86002HOM Link to ClinVar
9269498601BenignSanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-B
not_specified
not_provided
0.99470.9976HOM Link to ClinVar
195051192213Benignnot_specified.0.72005HOM Link to ClinVar
682647669311Benignnot_provided..HOM Link to ClinVar
9269798604Benignnot_specified
not_provided
.0.0004HET Link to ClinVar
682648667969Benignnot_provided..HOM Link to ClinVar
9269398600BenignSanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-B
not_specified
not_provided
.0.85923HOM Link to ClinVar
380441375926BenignNeurodegeneration_with_brain_iron_accumulation_6
not_specified
.0.02496HET Link to ClinVar
255350256175BenignGlycogen_storage_disease,_type_I
not_specified
not_provided
0.712370.63838HOM Link to ClinVar
323383344623BenignGlycogen_storage_disease,_type_I.0.72664HOM Link to ClinVar
323389344627BenignGlycogen_storage_disease,_type_I..HOM Link to ClinVar
323395338554BenignGlycogen_storage_disease,_type_I.0.60703HOM Link to ClinVar
323396344640BenignGlycogen_storage_disease,_type_I.0.65136HOM Link to ClinVar
403353390210Benignnot_specified... Link to ClinVar
209221206179BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209226206184BenignBreast-ovarian_cancer,_familial_1.0.53774HET Link to ClinVar
209227206185BenignBreast-ovarian_cancer,_familial_1.0.49141HET Link to ClinVar
209228206186BenignBreast-ovarian_cancer,_familial_1.0.34225HET Link to ClinVar
209230206188BenignBreast-ovarian_cancer,_familial_1.0.34245HET Link to ClinVar
209231206189BenignBreast-ovarian_cancer,_familial_1.0.34225HET Link to ClinVar
132777136525BenignHereditary_breast_and_ovarian_cancer_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
0.444850.34225HET Link to ClinVar
209234206192BenignHereditary_breast_and_ovarian_cancer_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
0.446470.32448HET Link to ClinVar
209238206196BenignBreast-ovarian_cancer,_familial_1.0.34245HET Link to ClinVar
209243206201BenignBreast-ovarian_cancer,_familial_1.0.53395HET Link to ClinVar
209244206202BenignBreast-ovarian_cancer,_familial_1.0.34265HET Link to ClinVar
209247206205BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
491153485074Likely_benignHereditary_cancer-predisposing_syndrome..HET Link to ClinVar
209252206210BenignHereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
.0.32508HET Link to ClinVar
209256206214BenignBreast-ovarian_cancer,_familial_1.0.53774HET Link to ClinVar
209259206217BenignBreast-ovarian_cancer,_familial_1.0.34285HET Link to ClinVar
209260206218BenignBreast-ovarian_cancer,_familial_1.0.34285HET Link to ClinVar
209266206224BenignBreast-ovarian_cancer,_familial_1.0.34285HET Link to ClinVar
209267206225BenignBreast-ovarian_cancer,_familial_1.0.34265HET Link to ClinVar
209277206235BenignBreast-ovarian_cancer,_familial_1.0.34265HET Link to ClinVar
209278206236BenignBreast-ovarian_cancer,_familial_1.0.49022HET Link to ClinVar
209279206237BenignBreast-ovarian_cancer,_familial_1.0.34285HET Link to ClinVar
209291206249BenignBreast-ovarian_cancer,_familial_1.0.34265HET Link to ClinVar
209296206254BenignBreast-ovarian_cancer,_familial_1.0.45927HET Link to ClinVar
209301206259BenignBreast-ovarian_cancer,_familial_1.0.32488HET Link to ClinVar
209303206261BenignBreast-ovarian_cancer,_familial_1.0.32488HET Link to ClinVar
209305206263BenignBreast-ovarian_cancer,_familial_1.0.34265HET Link to ClinVar
209306206264BenignBreast-ovarian_cancer,_familial_1.0.34245HET Link to ClinVar
209308206266BenignBreast-ovarian_cancer,_familial_1.0.48962HET Link to ClinVar
209313206271BenignBreast-ovarian_cancer,_familial_1.0.32428HET Link to ClinVar
209314206272BenignBreast-ovarian_cancer,_familial_1.0.34205HET Link to ClinVar
209317206275BenignBreast-ovarian_cancer,_familial_1.0.32428HET Link to ClinVar
209318206276BenignBreast-ovarian_cancer,_familial_1.0.32428HET Link to ClinVar
209320206278BenignBreast-ovarian_cancer,_familial_1.0.32648HET Link to ClinVar
5542870095BenignFamilial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
.0.34245HET Link to ClinVar
209322206280BenignBreast-ovarian_cancer,_familial_1.0.29094HET Link to ClinVar
209327206285BenignBreast-ovarian_cancer,_familial_1.0.33966HET Link to ClinVar
209335206293BenignBreast-ovarian_cancer,_familial_1.0.33586HET Link to ClinVar
209336206294BenignBreast-ovarian_cancer,_familial_1.0.35363HET Link to ClinVar
209340206298BenignBreast-ovarian_cancer,_familial_1.0.33586HET Link to ClinVar
127127132630BenignFamilial_cancer_of_breast
Breast-ovarian_cancer,_familial_1
.0.2528HET Link to ClinVar
127126132629BenignFamilial_cancer_of_breast
Breast-ovarian_cancer,_familial_1
not_specified
.0.30691HET Link to ClinVar
125746131284BenignHereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
.0.35463HET Link to ClinVar
125749131287BenignBreast-ovarian_cancer,_familial_1
not_specified
.0.35463HET Link to ClinVar
209350206308BenignBreast-ovarian_cancer,_familial_1.0.35503HET Link to ClinVar
209358206316BenignBreast-ovarian_cancer,_familial_1.0.35583HET Link to ClinVar
209359206317BenignBreast-ovarian_cancer,_familial_1.0.33746HET Link to ClinVar
4182750266BenignBreast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
.0.35583HET Link to ClinVar
264795259558BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209363206321BenignBreast-ovarian_cancer,_familial_1.0.33646HET Link to ClinVar
209371206329BenignBreast-ovarian_cancer,_familial_1.0.35483HET Link to ClinVar
209374206332BenignBreast-ovarian_cancer,_familial_1
not_specified
.0.35344HET Link to ClinVar
209375206333BenignBreast-ovarian_cancer,_familial_1
not_specified
.0.5024HET Link to ClinVar
209376206334BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209378206336BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209382206340BenignBreast-ovarian_cancer,_familial_1.0.35383HET Link to ClinVar
264844259564BenignBreast-ovarian_cancer,_familial_1.0.35363HET Link to ClinVar
209384206342BenignBreast-ovarian_cancer,_familial_1..HOM Link to ClinVar
209385206343BenignBreast-ovarian_cancer,_familial_1.0.5026HET Link to ClinVar
209386206344BenignBreast-ovarian_cancer,_familial_1.0.54892HET Link to ClinVar
209387206345BenignBreast-ovarian_cancer,_familial_1.0.54812HET Link to ClinVar
264827259566BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209389206347BenignBreast-ovarian_cancer,_familial_1.0.33486HET Link to ClinVar
209390206348BenignBreast-ovarian_cancer,_familial_1.0.33486HET Link to ClinVar
209391206349BenignBreast-ovarian_cancer,_familial_1.0.33486HET Link to ClinVar
209392206350BenignBreast-ovarian_cancer,_familial_1.0.253HET Link to ClinVar
209393206351BenignBreast-ovarian_cancer,_familial_1.0.5024HET Link to ClinVar
209396206354BenignBreast-ovarian_cancer,_familial_1.0.503HET Link to ClinVar
209398206356BenignBreast-ovarian_cancer,_familial_1.0.33546HET Link to ClinVar
209399206357BenignBreast-ovarian_cancer,_familial_1.0.35344HET Link to ClinVar
209401206359BenignBreast-ovarian_cancer,_familial_1.0.33486HET Link to ClinVar
209929206361BenignBreast-ovarian_cancer,_familial_1.0.98023HOM Link to ClinVar
209404206363BenignBreast-ovarian_cancer,_familial_1.0.14397HET Link to ClinVar
125703131241BenignHereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
0.34310.33626HET Link to ClinVar
209413206372BenignBreast-ovarian_cancer,_familial_1.0.58546HET Link to ClinVar
209420206379BenignBreast-ovarian_cancer,_familial_1.0.35264HET Link to ClinVar
209424206383BenignBreast-ovarian_cancer,_familial_1.0.33806HET Link to ClinVar
209425206384BenignBreast-ovarian_cancer,_familial_1.0.35363HET Link to ClinVar
209426206385BenignBreast-ovarian_cancer,_familial_1.0.35363HET Link to ClinVar
264847259575BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209427206386BenignBreast-ovarian_cancer,_familial_1.0.17033HET Link to ClinVar
209432206391BenignBreast-ovarian_cancer,_familial_1.0.35344HET Link to ClinVar
209433206392BenignBreast-ovarian_cancer,_familial_1.0.35344HET Link to ClinVar
209435206394BenignBreast-ovarian_cancer,_familial_1.0.31969HET Link to ClinVar
209436206395BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209439206398BenignBreast-ovarian_cancer,_familial_1.0.35264HET Link to ClinVar
125674131212BenignFamilial_cancer_of_breast
Breast-ovarian_cancer,_familial_1
not_specified
.0.5024HET Link to ClinVar
4181850257BenignBreast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
0.349010.35264HET Link to ClinVar
4181550254BenignBreast_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
0.342870.33566HET Link to ClinVar
4181250251BenignBreast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
0.410050.54393HET Link to ClinVar
125554131092BenignHereditary_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
0.341960.33526HET Link to ClinVar
125536131074BenignHereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
0.348270.33646HET Link to ClinVar
127125132628BenignFamilial_cancer_of_breast
Breast-ovarian_cancer,_familial_1
..HET Link to ClinVar
209447206406BenignBreast-ovarian_cancer,_familial_1..HOM Link to ClinVar
209449206408BenignBreast-ovarian_cancer,_familial_1.0.33506HET Link to ClinVar
209450206409BenignBreast-ovarian_cancer,_familial_1.0.33486HET Link to ClinVar
209451206410BenignBreast-ovarian_cancer,_familial_1.0.35264HET Link to ClinVar
125889131427BenignHereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
..HET Link to ClinVar
209458206417BenignBreast-ovarian_cancer,_familial_1.0.35264HET Link to ClinVar
209460206419BenignBreast-ovarian_cancer,_familial_1.0.54812HET Link to ClinVar
209463206422BenignBreast-ovarian_cancer,_familial_1.0.33586HET Link to ClinVar
125879131417BenignBreast-ovarian_cancer,_familial_1.0.35264HET Link to ClinVar
209478206437BenignBreast-ovarian_cancer,_familial_1.0.35344HET Link to ClinVar
264778259589BenignBreast-ovarian_cancer,_familial_1.0.35344HET Link to ClinVar
209479206438BenignBreast-ovarian_cancer,_familial_1.0.54812HET Link to ClinVar
264845259592BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209483206442BenignBreast-ovarian_cancer,_familial_1.0.33526HET Link to ClinVar
209484206443BenignBreast-ovarian_cancer,_familial_1.0.35324HET Link to ClinVar
225705227569BenignBreast-ovarian_cancer,_familial_1
not_specified
..HET Link to ClinVar
125614131152BenignBreast-ovarian_cancer,_familial_1
not_specified
.0.54852HET Link to ClinVar
209489206448BenignBreast-ovarian_cancer,_familial_1.0.33586HET Link to ClinVar
209491206450BenignBreast-ovarian_cancer,_familial_1.0.35304HET Link to ClinVar
209494206453BenignBreast-ovarian_cancer,_familial_1.0.35304HET Link to ClinVar
209499206458BenignBreast-ovarian_cancer,_familial_1.0.35304HET Link to ClinVar
264813259598BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209503206462BenignBreast-ovarian_cancer,_familial_1.0.35344HET Link to ClinVar
209512206471BenignBreast-ovarian_cancer,_familial_1.0.35224HET Link to ClinVar
209516206475BenignBreast-ovarian_cancer,_familial_1.0.35703HET Link to ClinVar
209519206478BenignBreast-ovarian_cancer,_familial_1.0.33447HET Link to ClinVar
209521206480BenignBreast-ovarian_cancer,_familial_1.0.33447HET Link to ClinVar
209524206483BenignBreast-ovarian_cancer,_familial_1.0.35304HET Link to ClinVar
209531206490BenignBreast-ovarian_cancer,_familial_1.0.35423HET Link to ClinVar
209537206496BenignBreast-ovarian_cancer,_familial_1.0.35304HET Link to ClinVar
264808259612BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209545206504BenignBreast-ovarian_cancer,_familial_1.0.35304HET Link to ClinVar
209547206506BenignBreast-ovarian_cancer,_familial_1.0.33546HET Link to ClinVar
209551206510BenignBreast-ovarian_cancer,_familial_1.0.35264HET Link to ClinVar
209552206511BenignBreast-ovarian_cancer,_familial_1.0.33506HET Link to ClinVar
209559206518BenignBreast-ovarian_cancer,_familial_1.0.35304HET Link to ClinVar
209561206520BenignBreast-ovarian_cancer,_familial_1.0.54453HET Link to ClinVar
209562206521BenignBreast-ovarian_cancer,_familial_1.0.33526HET Link to ClinVar
209564206523BenignBreast-ovarian_cancer,_familial_1.0.35304HET Link to ClinVar
209565206524BenignBreast-ovarian_cancer,_familial_1.0.35363HET Link to ClinVar
209568206526BenignBreast-ovarian_cancer,_familial_1.0.54273HET Link to ClinVar
209569206528BenignBreast-ovarian_cancer,_familial_1..HET Link to ClinVar
209570206529BenignBreast-ovarian_cancer,_familial_1.0.33506HET Link to ClinVar
209571206530BenignBreast-ovarian_cancer,_familial_1.0.35363HET Link to ClinVar
125468131006BenignBreast-ovarian_cancer,_familial_1
not_specified
.0.35363HET Link to ClinVar
209574206533BenignBreast-ovarian_cancer,_familial_1.0.35363HET Link to ClinVar
189123186980BenignBreast-ovarian_cancer,_familial_1
not_specified
0.480530.54513HET Link to ClinVar
209582206541BenignBreast-ovarian_cancer,_familial_1.0.50319HET Link to ClinVar
209583206542BenignBreast-ovarian_cancer,_familial_1.0.35403HET Link to ClinVar
209587206546BenignBreast-ovarian_cancer,_familial_1.0.50319HET Link to ClinVar
209589206548BenignBreast-ovarian_cancer,_familial_1.0.35423HET Link to ClinVar
209592206551BenignBreast-ovarian_cancer,_familial_1.0.54932HET Link to ClinVar
209593206552BenignBreast-ovarian_cancer,_familial_1.0.35783HET Link to ClinVar
209594206553BenignBreast-ovarian_cancer,_familial_1.0.33586HET Link to ClinVar
209595206554BenignBreast-ovarian_cancer,_familial_1.0.35363HET Link to ClinVar
323430338589BenignSclerosing_Bone_Dysplasias.0.5HOM Link to ClinVar
768890704166Benignnot_provided..HOM Link to ClinVar
262687256179BenignHyperammonemia,_type_III
not_specified
0.319360.1885HET Link to ClinVar
680677669024Benignnot_provided..HOM Link to ClinVar
262688256180BenignHyperammonemia,_type_III
not_specified
not_provided
0.943220.96026HOM Link to ClinVar
680676668862Benignnot_provided..HOM Link to ClinVar
262686256181BenignHyperammonemia,_type_III
not_specified
not_provided
0.565970.47564HET Link to ClinVar
323452344676BenignHyperammonemia,_type_III.0.89477HOM Link to ClinVar
323459344691BenignSevere_congenital_neutropenia0.566960.32308HET Link to ClinVar
262366256183BenignSevere_congenital_neutropenia
not_specified
0.176770.26997HET Link to ClinVar
323481344706Likely_benignHemolytic_anemia
Distal_Renal_Tubular_Acidosis,_Dominant
Spherocytosis,_Dominant
.0.53634HET Link to ClinVar
323498344720Likely_benignHemolytic_anemia
Distal_Renal_Tubular_Acidosis,_Dominant
Spherocytosis,_Dominant
.0.44649HET Link to ClinVar
803426791780BenignFrontotemporal_dementia,_ubiquitin-positive..HET Link to ClinVar
558917549747Benignnot_provided0.282690.35144HET Link to ClinVar
128973134420BenignGrowth_and_mental_retardation,_mandibulofacial_dysostosis,_microcephaly,_and_cleft_palate
not_specified
0.174270.17053HET Link to ClinVar
128972134419BenignGrowth_and_mental_retardation,_mandibulofacial_dysostosis,_microcephaly,_and_cleft_palate
not_specified
0.569250.5605HET Link to ClinVar
369146353375Likely_benignPrimary_ciliary_dyskinesia.0.27696HET Link to ClinVar
6650877405BenignAlexander_Disease
not_provided
0.11630.14078HET Link to ClinVar
6642677323not_providednot_provided.0.40835HET Link to ClinVar
98197104089BenignFrontotemporal_dementia
not_specified
not_provided
0.041270.02776HET Link to ClinVar
98211104103Benign/Likely_benignFrontotemporal_dementia
not_specified
MAPT-Related_Spectrum_Disorders
not_provided
0.035950.03295HET Link to ClinVar
323687328833BenignSyndromic_intellectual_disability
MAPT-Related_Spectrum_Disorders
.0.20248HET Link to ClinVar
323727344915BenignSyndromic_intellectual_disability
MAPT-Related_Spectrum_Disorders
.0.61402HET Link to ClinVar
323764346272BenignKoolen-de_Vries_syndrome
Syndromic_intellectual_disability
MAPT-Related_Spectrum_Disorders
not_provided
0.37750.3129HET Link to ClinVar
682029669322Benignnot_provided..HET Link to ClinVar
803431791785BenignKoolen-de_Vries_syndrome..HOM Link to ClinVar
369215353444BenignSyndromic_intellectual_disability.0.31869HET Link to ClinVar
137487141190BenignProgressive_myoclonic_epilepsy
not_specified
0.39610.3732HET Link to ClinVar
193275190439BenignProgressive_myoclonic_epilepsy
Epilepsy,_progressive_myoclonic_6
not_specified
.0.95367HOM Link to ClinVar
668838668034Benignnot_provided..HET Link to ClinVar
683278668035Benignnot_provided..HOM Link to ClinVar
668839668880Benignnot_provided..HOM Link to ClinVar
681357669375Benignnot_provided..HOM Link to ClinVar
323828346313Likely_benignProgressive_myoclonic_epilepsy..HET Link to ClinVar
323830338937BenignProgressive_myoclonic_epilepsy.0.9363HOM Link to ClinVar
323837338951BenignProgressive_myoclonic_epilepsy.0.375HET Link to ClinVar
323846328952BenignProgressive_myoclonic_epilepsy.0.41134HET Link to ClinVar
323855346341Likely_benignProgressive_myoclonic_epilepsy.0.07468HET Link to ClinVar
1355828597Benign/Likely_benignPL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM
Myocardial_infarction
Glanzmann_thrombasthenia
not_specified
0.123540.08886HET Link to ClinVar
255541256225BenignGlanzmann_thrombasthenia
not_specified
0.102860.14397HET Link to ClinVar
255535256226BenignGlanzmann_thrombasthenia
not_specified
not_provided
.0.43111HOM Link to ClinVar
255536256227BenignGlanzmann_thrombasthenia
not_specified
0.287140.28734HET Link to ClinVar
255537256228BenignGlanzmann_thrombasthenia
not_specified
0.28730.28734HET Link to ClinVar
255538256229Benignnot_specified0.090570.12041HET Link to ClinVar
323884346348Likely_benignGlanzmann_thrombasthenia.0.02356HET Link to ClinVar
323887346364Likely_benignGlanzmann_thrombasthenia.0.1232HET Link to ClinVar
323891346367BenignGlanzmann_thrombasthenia.0.72344HET Link to ClinVar
667952669086Likely_benignnot_provided..HET Link to ClinVar
667950669090Benignnot_provided..HOM Link to ClinVar
670594669091Benignnot_provided..HOM Link to ClinVar
323918345064BenignPyridoxal_5'-phosphate-dependent_epilepsy.0.42552HOM Link to ClinVar
323927339061BenignPyridoxal_5'-phosphate-dependent_epilepsy.0.6877HOM Link to ClinVar
323940345069BenignPyridoxal_5'-phosphate-dependent_epilepsy.0.80791HOM Link to ClinVar
768894704194Benignnot_provided..HET Link to ClinVar
324008346473Likely_benignAmelogenesis_Imperfecta,_Dominant..HET Link to ClinVar
324013329082BenignAmelogenesis_Imperfecta,_Dominant.0.65336HET Link to ClinVar
518262508887BenignInterstitial_lung_disease,_nephrotic_syndrome,_and_epidermolysis_bullosa,_congenital0.85530.76278HOM Link to ClinVar
254719256266Benign/Likely_benignnot_specified
not_provided
0.054450.02835HET Link to ClinVar
669838668060Benignnot_provided..HOM Link to ClinVar
684353669391Benignnot_provided..HET Link to ClinVar
669840669395Benignnot_provided..HET Link to ClinVar
254718256269Benignnot_specified
not_provided
.0.1224HET Link to ClinVar
670060668895Benignnot_provided..HET Link to ClinVar
669841669396Benignnot_provided..HET Link to ClinVar
670061669400Benignnot_provided..HET Link to ClinVar
670546669104Benignnot_provided..HET Link to ClinVar
669842668904Benignnot_provided..HOM Link to ClinVar
324072339244Likely_benignInfantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
Osteogenesis_Imperfecta,_Dominant
.0.13119HET Link to ClinVar
324076329121Likely_benignInfantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
Osteogenesis_Imperfecta,_Dominant
..HET Link to ClinVar
324093345156Likely_benignInfantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
Osteogenesis_Imperfecta,_Dominant
.0.37859HET Link to ClinVar
197918195079Benign/Likely_benignInfantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
not_specified
Osteogenesis_Imperfecta,_Dominant
0.58280.48502HET Link to ClinVar
674808669404Benignnot_provided..HET Link to ClinVar
285362269599Benignnot_specified0.984790.97883HOM Link to ClinVar
674807668911Benignnot_provided..HOM Link to ClinVar
254948256272Benignnot_specified.0.54133HET Link to ClinVar
254947256273Benign/Likely_benignInfantile_cortical_hyperostosis
Ehlers-Danlos_syndrome,_type_7A
not_specified
Osteogenesis_Imperfecta,_Dominant
0.999840.9998HOM Link to ClinVar
674806668913Benignnot_provided..HOM Link to ClinVar
674805669413Benignnot_provided..HET Link to ClinVar
674804669418Benignnot_provided..HET Link to ClinVar
674803669424Benignnot_specified
not_provided
..HET Link to ClinVar
674802669115Benignnot_provided..HET Link to ClinVar
674978669430Benignnot_provided..HET Link to ClinVar
674801669118Benignnot_provided..HET Link to ClinVar
674977668099Benignnot_provided..HOM Link to ClinVar
674976669438Benignnot_provided..HOM Link to ClinVar
683350668928Benignnot_provided..HOM Link to ClinVar
683343669441Benignnot_provided..HOM Link to ClinVar
254949256277Benignnot_specified0.618740.51817HOM Link to ClinVar
253317572BenignPseudoxanthoma_elasticum,_modifier_of_severity_of
Spondyloocular_syndrome,_autosomal_recessive
.0.251HET Link to ClinVar
377617378501Benignnot_specified0.555420.52396HET Link to ClinVar
259116256279Benignnot_specified.0.69828HOM Link to ClinVar
403102390232Benignnot_specified.0.14976HET Link to ClinVar
403385390363Benignnot_specified0.40480.3738HET Link to ClinVar
324173345189Likely_benignFanconi_anemia
Breast_and_Ovarian_Cancer_Susceptibility
0.179670.15835HET Link to ClinVar
324219329200BenignMulibrey_nanism_syndrome.0.61182HOM Link to ClinVar
369217353446BenignMulibrey_nanism_syndrome..HET Link to ClinVar
324241339409BenignIschiopatellar_dysplasia0.234440.18011HET Link to ClinVar
324249346635BenignIschiopatellar_dysplasia
not_specified
0.187560.20268HET Link to ClinVar
261035256297BenignIschiopatellar_dysplasia
not_specified
0.145450.21326HET Link to ClinVar
324262345229BenignIschiopatellar_dysplasia0.101930.11562HET Link to ClinVar
324280345251BenignIschiopatellar_dysplasia.0.08247HET Link to ClinVar
324284329230BenignIschiopatellar_dysplasia.0.32308HET Link to ClinVar
324292346660Likely_benignNeoplasm_of_the_breast
Fanconi_anemia
.0.76218HOM Link to ClinVar
324294345269Likely_benignNeoplasm_of_the_breast
Fanconi_anemia
.0.34225HET Link to ClinVar
324321329244Likely_benignNeoplasm_of_the_breast
Fanconi_anemia
.0.11961HET Link to ClinVar
210533208407Likely_benignNeoplasm_of_the_breast
Fanconi_anemia
not_specified
.0.39217HET Link to ClinVar
324322339477Likely_benignNeoplasm_of_the_breast
Fanconi_anemia
.0.38798HET Link to ClinVar
324335329258Likely_benignNeoplasm_of_the_breast
Fanconi_anemia
.0.626HET Link to ClinVar
324344339494Likely_benignNeoplasm_of_the_breast
Fanconi_anemia
.0.62181HET Link to ClinVar
183702185195Benign/Likely_benignNeoplasm_of_the_breast
Neoplasm_of_ovary
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
not_provided
0.594120.62081HET Link to ClinVar
133756137495Benign/Likely_benignNeoplasm_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
0.597220.6278HET Link to ClinVar
183703185227Benign/Likely_benignNeoplasm_of_the_breast
Neoplasm_of_ovary
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
not_provided
0.718790.8151HOM Link to ClinVar
679668669160Benignnot_provided..HOM Link to ClinVar
262005256299Benignnot_specified.0.78974HOM Link to ClinVar
256799256305BenignRenal_dysplasia
not_specified
0.449160.42352HET Link to ClinVar
256800256306BenignRenal_dysplasia
not_specified
0.499890.52955HET Link to ClinVar
256802256307Benignnot_specified0.499650.52995HET Link to ClinVar
256801256308BenignRenal_dysplasia
not_specified
0.499580.52995HET Link to ClinVar
256803256309BenignRenal_dysplasia
not_specified
0.537260.64317HET Link to ClinVar
256804256310BenignRenal_dysplasia
not_specified
0.523340.58746HET Link to ClinVar
256806256312BenignRenal_dysplasia
not_specified
0.556180.58187HET Link to ClinVar
324435339581BenignRenal_dysplasia..HET Link to ClinVar
324438329331BenignRenal_dysplasia.0.65795HET Link to ClinVar
369220353449Likely_benignIsolated_growth_hormone_deficiency.0.36342HET Link to ClinVar
402520390202Benignnot_specified0.595170.5617HET Link to ClinVar
324474339623BenignParamyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Potassium_aggravated_myotonia
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis
..HET Link to ClinVar
324479346754BenignParamyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Potassium_aggravated_myotonia
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis
..HET Link to ClinVar
324494339637BenignParamyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Potassium_aggravated_myotonia
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis
.0.59605HET Link to ClinVar
9286398770BenignParamyotonia_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
0.163880.14018HET Link to ClinVar
130236135683BenignParamyotonia_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
0.523690.5615HET Link to ClinVar
669357669201Benignnot_provided..HET Link to ClinVar
684260669463Benignnot_provided..HET Link to ClinVar
669356668966Benignnot_provided..HET Link to ClinVar
669355668157Benignnot_provided..HET Link to ClinVar
669353668161Benignnot_provided..HET Link to ClinVar
167652178051BenignParamyotonia_congenita_of_von_Eulenburg
Hypokalemic_periodic_paralysis
Potassium_aggravated_myotonia
not_specified
Congenital_Myasthenic_Syndrome,_Recessive
Hyperkalemic_Periodic_Paralysis
0.315550.25439HET Link to ClinVar
130228135675BenignParamyotonia_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
0.928840.94429HOM Link to ClinVar
669352668184Benignnot_provided..HOM Link to ClinVar
684257668195Benignnot_provided..HOM Link to ClinVar
669351668198Benignnot_provided..HOM Link to ClinVar
255843256326Benignnot_specified
not_provided
0.884280.80831HOM Link to ClinVar
669349668987Benignnot_provided..HOM Link to ClinVar
684254668991Benignnot_provided..HOM Link to ClinVar
684253669478Benignnot_provided..HOM Link to ClinVar
669348668204Benignnot_provided..HOM Link to ClinVar
255856256334Benignnot_specified
not_provided
0.987760.99481HOM Link to ClinVar
671347669482Benignnot_provided..HET Link to ClinVar
671344669485Benignnot_provided..HET Link to ClinVar
667974669214Benignnot_provided..HET Link to ClinVar
324630345576BenignOligodontia-colorectal_cancer_syndrome.0.42173HET Link to ClinVar
324633339829BenignOligodontia-colorectal_cancer_syndrome.0.08327HET Link to ClinVar
679667668215Benignnot_provided..HOM Link to ClinVar
259512256352Benignnot_specified
not_provided
0.121860.17412HET Link to ClinVar
259510256353BenignCarcinoma_of_colon
Oligodontia-colorectal_cancer_syndrome
not_specified
not_provided
0.623640.44609HET Link to ClinVar
259509256354BenignOligodontia-colorectal_cancer_syndrome
not_specified
not_provided
0.91440.90974HOM Link to ClinVar
496274488007Benignnot_provided0.118760.16414HET Link to ClinVar
1604231081BenignAPOH_POLYMORPHISM.0.54153HET Link to ClinVar
260831256360Benignnot_specified.0.16953HET Link to ClinVar
517056506140Benignnot_specified.0.81849HOM Link to ClinVar
324854346989BenignAndersen_Tawil_syndrome
short_QT_syndrome
Familial_atrial_fibrillation
.0.58087HET Link to ClinVar
667624668254Benignnot_provided..HET Link to ClinVar
2116434016BenignCamptomelic_dysplasia
not_specified
not_provided
0.193280.13658HET Link to ClinVar
667625669563Benignnot_provided..HET Link to ClinVar
324922339974BenignCamptomelic_dysplasia0.401140.35443HET Link to ClinVar
324931347054BenignCamptomelic_dysplasia.0.5611HET Link to ClinVar
324944347097BenignCamptomelic_dysplasia.0.32109HET Link to ClinVar
324949339992BenignCamptomelic_dysplasia..HET Link to ClinVar
324951345723BenignCongenital_disorder_of_glycosylation0.527690.52596HOM Link to ClinVar
95917101813BenignCongenital_disorder_of_glycosylation
not_specified
not_provided
0.49690.44948HOM Link to ClinVar
95919101815BenignCongenital_disorder_of_glycosylation
not_specified
not_provided
0.501340.45128HOM Link to ClinVar
95911101807BenignCongenital_disorder_of_glycosylation
not_specified
not_provided
0.523120.52097HOM Link to ClinVar
95914101810BenignCongenital_disorder_of_glycosylation
not_specified
.0.52536HOM Link to ClinVar
95916101812Benignnot_specified0.944190.86362HOM Link to ClinVar
325000345743BenignPrimary_ciliary_dyskinesia.0.38299HOM Link to ClinVar
325001340046BenignPrimary_ciliary_dyskinesia.0.63179HOM Link to ClinVar
261648256376Benignnot_specified0.987460.96146HOM Link to ClinVar
261640256389Likely_benignnot_specified..HOM Link to ClinVar
163171176498BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_9
not_specified
not_provided
0.858060.74082HOM Link to ClinVar
261645256394Benignnot_specified0.856830.72264HOM Link to ClinVar
261646256395Benignnot_specified0.915380.84066HOM Link to ClinVar
325040329799Likely_benignRetinitis_pigmentosa-deafness_syndrome.0.21366HET Link to ClinVar
379995376658Benignnot_specified0.795850.65735HOM Link to ClinVar
325062345823Likely_benignAmish_lethal_microcephaly.0.53654HOM Link to ClinVar
130327135774Benign/Likely_benignAmish_lethal_microcephaly
not_specified
not_provided
0.928980.90016HOM Link to ClinVar
130333135780Benign/Likely_benignAmish_lethal_microcephaly
not_specified
not_provided
0.651680.53015HOM Link to ClinVar
130330135777Benign/Likely_benignAmish_lethal_microcephaly
not_specified
not_provided
0.961670.88958HOM Link to ClinVar
325069347217Likely_benignAmish_lethal_microcephaly.0.86122HOM Link to ClinVar
96673102566BenignPontoneocerebellar_hypoplasia
not_specified
not_provided
.0.54373HOM Link to ClinVar
160133169401Benignnot_specified0.707370.45527HOM Link to ClinVar
160123169409BenignPontoneocerebellar_hypoplasia
Pontocerebellar_hypoplasia_type_4
not_specified
not_provided
0.641410.44469HOM Link to ClinVar
96670102563BenignPontoneocerebellar_hypoplasia
not_specified
not_provided
0.871720.8143HOM Link to ClinVar
160127169413BenignPontoneocerebellar_hypoplasia
not_specified
not_provided
0.624130.5613HOM Link to ClinVar
255542256412BenignDeficiency_of_galactokinase
Epidermolysis_bullosa_junctionalis_with_pyloric_atresia
not_specified
.0.3772HOM Link to ClinVar
325232347287Conflicting_interpretations_of_pathogenicityDeficiency_of_galactokinase
not_provided
0.00056.HET Link to ClinVar
263240256415BenignFamilial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_3
not_specified
0.484390.52616HET Link to ClinVar
263236256419Benignnot_specified0.18560.16414HET Link to ClinVar
263228256423BenignFamilial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_3
not_specified
not_provided
0.366630.4994HET Link to ClinVar
325255345985Conflicting_interpretations_of_pathogenicityFamilial_hemophagocytic_lymphohistiocytosis
not_provided
..HET Link to ClinVar
263222256429Benign/Likely_benignFamilial_hemophagocytic_lymphohistiocytosis
not_specified
0.189740.15755HET Link to ClinVar
263247256440BenignFamilial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_3
not_specified
.0.49022HET Link to ClinVar
263229256449Benignnot_specified.0.17712HET Link to ClinVar
263214256451BenignHemophagocytic_lymphohistiocytosis,_familial,_3
not_specified
0.252460.27736HET Link to ClinVar
325306347341Likely_benignPseudoneonatal_adrenoleukodystrophy..HET Link to ClinVar
325320346044BenignPseudoneonatal_adrenoleukodystrophy0.576090.45068HET Link to ClinVar
325356346060Likely_benignPseudoneonatal_adrenoleukodystrophy.0.10963HET Link to ClinVar
325361346062BenignPseudoneonatal_adrenoleukodystrophy.0.46985HET Link to ClinVar
325365347373Likely_benignPseudoneonatal_adrenoleukodystrophy.0.02656HET Link to ClinVar
259223256459BenignPseudoneonatal_adrenoleukodystrophy
not_specified
not_provided
0.642420.55072HET Link to ClinVar
325408346095Likely_benignHowel-Evans_syndrome.0.01897HET Link to ClinVar
325455347434BenignHowel-Evans_syndrome0.878650.76518HOM Link to ClinVar
325469340410BenignHowel-Evans_syndrome0.152460.14976HET Link to ClinVar
325499340449BenignRetinitis_Pigmentosa,_Recessive0.517530.47863HOM Link to ClinVar
518264508889BenignAmyotrophy,_hereditary_neuralgic0.885270.91873HOM Link to ClinVar
518266508891BenignAmyotrophy,_hereditary_neuralgic0.297240.29673HET Link to ClinVar
325598346243BenignHereditary_Neuralgic_Amyotrophy_(HNA)0.037020.01078HET Link to ClinVar
325614330319BenignHereditary_Neuralgic_Amyotrophy_(HNA).0.43211HET Link to ClinVar
403548390263Benignnot_specified.0.55232HET Link to ClinVar
403547390212Benignnot_specified0.534330.54034HET Link to ClinVar
403549390381Benignnot_specified0.581610.60184HET Link to ClinVar
402672390396Benignnot_specified0.744640.68451HOM Link to ClinVar
402674390282Benignnot_specified0.985090.95088HOM Link to ClinVar
402676390285Benignnot_specified0.517370.46645HET Link to ClinVar
402677390401Benignnot_specified0.731180.65016HOM Link to ClinVar
402679390269Benignnot_specified0.274980.3756HET Link to ClinVar
402680390288Benignnot_specified0.671170.64237HET Link to ClinVar
402681390405Benignnot_specified.0.65435HOM Link to ClinVar
402684390294Benignnot_specified0.317010.23782HOM Link to ClinVar
402685390408Benignnot_specified0.862510.92971HOM Link to ClinVar
402686390418Benignnot_specified0.682290.73882HOM Link to ClinVar
402687390419Benignnot_specified0.86520.93091HOM Link to ClinVar
402688390220Benignnot_specified.0.27935HET Link to ClinVar
402689390271Benignnot_specified.0.08127HET Link to ClinVar
402690390223Benignnot_specified0.573680.57847HET Link to ClinVar
402692390224Benignnot_specified0.223380.14697HET Link to ClinVar
402693390305Benignnot_specified0.152550.09245HET Link to ClinVar
402694390274Benignnot_specified0.590350.59505HOM Link to ClinVar
402695390276Benignnot_specified0.165710.1264HET Link to ClinVar
402696390422Benignnot_specified0.510060.46066HET Link to ClinVar
402697390281Benignnot_specified0.523590.45887HET Link to ClinVar
402698390287Benignnot_specified0.529950.47424HET Link to ClinVar
402699390292Benignnot_specified.0.73802HOM Link to ClinVar
402700390309Benignnot_specified0.435510.34764HET Link to ClinVar
402701390424Benignnot_specified.0.9401HOM Link to ClinVar
166807176025BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_15
not_specified
not_provided
.0.95727HOM Link to ClinVar
162850176509BenignPrimary_ciliary_dyskinesia
Ciliary_dyskinesia,_primary,_15
not_specified
not_provided
0.488720.46426HOM Link to ClinVar
178711176648BenignPrimary_ciliary_dyskinesia
Glycogen_storage_disease,_type_II
Ciliary_dyskinesia,_primary,_15
not_specified
not_provided
.0.71426HOM Link to ClinVar
325769346306Likely_benignPrimary_ciliary_dyskinesia
Glycogen_storage_disease,_type_II
.0.11801HOM Link to ClinVar
402019059Benign,_otherGlycogen_storage_disease,_type_II
Acid_alpha-glucosidase,_allele_2
not_specified
not_provided
.0.01158HET Link to ClinVar
9248498393BenignPrimary_ciliary_dyskinesia
Glycogen_storage_disease,_type_II
not_specified
not_provided
0.736680.71446HOM Link to ClinVar
680590669114Benignnot_provided..HOM Link to ClinVar
680260669116Benignnot_provided..HOM Link to ClinVar
680263668277Benignnot_provided..HOM Link to ClinVar
255363256515Benignnot_specified0.675760.60563HOM Link to ClinVar
9248598394BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.675860.60284HOM Link to ClinVar
9248698395BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.674550.60084HOM Link to ClinVar
9248898397Benign/Likely_benignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.675990.60244HOM Link to ClinVar
680265669594Benignnot_provided..HOM Link to ClinVar
9248998398BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
..HOM Link to ClinVar
167111177734Benignnot_specified0.674070.60104HOM Link to ClinVar
9249198400BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.750260.60443HOM Link to ClinVar
9246198370BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.678440.60284HOM Link to ClinVar
680591669364Benignnot_provided..HOM Link to ClinVar
680269669366Benignnot_provided..HOM Link to ClinVar
9246298371BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.731240.71166HOM Link to ClinVar
680270669602Benignnot_provided..HOM Link to ClinVar
9246498373BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.676040.60304HOM Link to ClinVar
255352256521Benignnot_specified0.674830.59924HOM Link to ClinVar
9246698375Benign/Likely_benignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.230910.15955HOM Link to ClinVar
9247098379BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.744080.71506HOM Link to ClinVar
680592669119Benignnot_provided..HOM Link to ClinVar
9247498383BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
0.756990.78934HOM Link to ClinVar
680261669122Benignnot_provided..HOM Link to ClinVar
9247698385BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
.0.71186HOM Link to ClinVar
9248198390BenignGlycogen_storage_disease,_type_II
not_specified
not_provided
.0.50939HOM Link to ClinVar
495667487921Likely_benignnot_provided0.003440.002HET Link to ClinVar
680272669367Benignnot_provided..HOM Link to ClinVar
325806330474Likely_benignGlycogen_storage_disease,_type_II.0.15595HOM Link to ClinVar
402484390428Benignnot_specified0.348060.30132HOM Link to ClinVar
402485390226Benignnot_specified.0.37021HET Link to ClinVar
325821346328BenignSanfilippo_syndrome.0.44828HET Link to ClinVar
9261098518BenignSanfilippo_syndrome
Mucopolysaccharidosis,_MPS-III-A
not_specified
not_provided
0.359160.34585HET Link to ClinVar
9261298520BenignMucopolysaccharidosis,_MPS-III-A
not_specified
not_provided
.0.51418HET Link to ClinVar
255515256542Benignnot_specified
not_provided
0.535590.55691HET Link to ClinVar
4415153319Benignnot_specified0.288240.1853HET Link to ClinVar
4415053318Benignnot_specified0.790220.75619HOM Link to ClinVar
4414753315Benignnot_specified0.498920.55891HET Link to ClinVar
325850330578BenignRetinitis_Pigmentosa,_Recessive0.555980.66873HET Link to ClinVar
325854347773Likely_benignRetinitis_Pigmentosa,_Recessive0.090390.07009HET Link to ClinVar
325857346443Likely_benignRetinitis_Pigmentosa,_Recessive0.100240.07009HET Link to ClinVar
325858340825BenignRetinitis_Pigmentosa,_Recessive0.562560.66873HET Link to ClinVar
325860340827BenignRetinitis_Pigmentosa,_Recessive0.474750.58506HET Link to ClinVar
669504669126Benignnot_provided..HET Link to ClinVar
768922704472Benignnot_provided..HOM Link to ClinVar
497969489393Benignnot_specified0.995080.98602HOM Link to ClinVar
325923346454Uncertain_significanceCutis_laxa,_recessive..HET Link to ClinVar
402932390333Benignnot_specified.0.48143HET Link to ClinVar
375663362508drug_responsecapecitabine_response_-_Efficacy
fluorouracil_response_-_Efficacy
..HET Link to ClinVar
260633256625Benignnot_specified0.685710.58467HOM Link to ClinVar
260637256629Benignnot_specified0.693930.6903HOM Link to ClinVar
260640256632Benignnot_specified
not_provided
.0.20627HOM Link to ClinVar
260650256639Benignnot_specified0.372110.27576HOM Link to ClinVar
260652256641Benignnot_specified0.994860.98043HOM Link to ClinVar
326550346757BenignMajeed_syndrome.0.54553HOM Link to ClinVar
326612331014BenignMajeed_syndrome.0.69129HOM Link to ClinVar
260433256646BenignMajeed_syndrome
not_specified
0.313060.36222HET Link to ClinVar
668717669699Benignnot_provided..HET Link to ClinVar
676925669708Benignnot_provided..HET Link to ClinVar
439863433667BenignMajeed_syndrome.0.41354HET Link to ClinVar
676922668327Benignnot_provided..HET Link to ClinVar
226828230806Benignnot_specified
Cardiovascular_phenotype
not_provided
0.56960.59445HET Link to ClinVar
226826230810Benignnot_specified0.539870.6228HET Link to ClinVar
226825230812Benignnot_specified
Cardiovascular_phenotype
not_provided
0.21420.18351HET Link to ClinVar
226821230819Benignnot_specified0.809220.80032HOM Link to ClinVar
226819230821Benignnot_specified
Cardiovascular_phenotype
not_provided
0.442240.34804HET Link to ClinVar
226815230838Benignnot_specified
Cardiovascular_phenotype
not_provided
0.199730.25439HET Link to ClinVar
226796230883Benignnot_specified
Cardiovascular_phenotype
not_provided
.0.75719HOM Link to ClinVar
226830230890Benignnot_specified
Cardiovascular_phenotype
not_provided
0.437350.44329HOM Link to ClinVar
674961669466Benignnot_provided..HET Link to ClinVar
403532390317Benignnot_specified0.329560.25559HET Link to ClinVar
777265704599Benignnot_provided..HET Link to ClinVar
803471791881BenignPoretti-Boltshauser_syndrome..HET Link to ClinVar
803472791882BenignPoretti-Boltshauser_syndrome..HET Link to ClinVar
803473791883BenignPoretti-Boltshauser_syndrome..HET Link to ClinVar
905424093BenignParkinson_disease,_mitochondrial
Mitochondrial_complex_I_deficiency
MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_7
not_specified
not_provided
0.800080.77895HET Link to ClinVar
678068669645Benignnot_provided..HET Link to ClinVar
129703135149Benign/Likely_benignMitochondrial_complex_I_deficiency
MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TYPE_7
not_specified
not_provided
0.084970.07508HET Link to ClinVar
369253353482Likely_benignMitochondrial_complex_I_deficiency.0.07548HET Link to ClinVar
261527256560Benignnot_specified0.347810.3143HET Link to ClinVar
261526256561Benignnot_specified0.284530.20108HET Link to ClinVar
261525256562Benignnot_specified0.290750.21925HET Link to ClinVar
261510256577Benignnot_specified0.80040.84365HOM Link to ClinVar
261509256578Benignnot_specified.0.64697HOM Link to ClinVar
261508256579Benignnot_specified0.265420.33187HOM Link to ClinVar
261507256580Benignnot_specified0.796160.82308HOM Link to ClinVar
261505256582Benignnot_specified0.784960.77895HOM Link to ClinVar
261504256583Benignnot_specified0.80110.83806HOM Link to ClinVar
261503256584Benignnot_specified0.853760.86242HOM Link to ClinVar
626331614665BenignDystonia_250.06280.04393HET Link to ClinVar
677942669627Benignnot_provided..HET Link to ClinVar
683211669386Benignnot_provided..HOM Link to ClinVar
128287133736Benignnot_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.749250.70986HOM Link to ClinVar
128286133735Benignnot_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.720540.6232HOM Link to ClinVar
683207669388Benignnot_provided..HOM Link to ClinVar
136312140015Benignnot_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.717670.61961HOM Link to ClinVar
326126346568BenignGlucocorticoid_Deficiency.0.5012HOM Link to ClinVar
326145340986BenignGlucocorticoid_Deficiency.0.52117HOM Link to ClinVar
326174346601BenignGlucocorticoid_Deficiency.0.50659HOM Link to ClinVar
326175330801BenignGlucocorticoid_Deficiency.0.34105HOM Link to ClinVar
326188346613BenignGlucocorticoid_Deficiency.0.21426HOM Link to ClinVar
326189346614BenignGlucocorticoid_Deficiency.0.50459HOM Link to ClinVar
326194341049Conflicting_interpretations_of_pathogenicityGlucocorticoid_Deficiency
not_provided
0.00073.HET Link to ClinVar
678135669668Benignnot_provided..HOM Link to ClinVar
678067669672Benignnot_provided..HOM Link to ClinVar
404060403233Likely_benignnot_provided..HET Link to ClinVar
684037669410Benignnot_provided..HOM Link to ClinVar
684038669414Benignnot_provided..HOM Link to ClinVar
673936669415Benignnot_provided..HOM Link to ClinVar
669107669685Benignnot_provided..HOM Link to ClinVar
670487669686Benignnot_provided..HOM Link to ClinVar
684045669693Benignnot_provided..HOM Link to ClinVar
673333669695Benignnot_provided..HOM Link to ClinVar
558880549772Likely_benignnot_provided..HET Link to ClinVar
193982191145Benign/Likely_benignNiemann-Pick_disease_type_C1
not_specified
..HET Link to ClinVar
9270198608BenignNiemann-Pick_disease,_type_C
Niemann-Pick_disease_type_C1
not_specified
not_provided
0.717720.83167HET Link to ClinVar
129811135257Benign/Likely_benignNiemann-Pick_disease,_type_C
Niemann-Pick_disease_type_C1
not_specified
not_provided
0.144440.10982HET Link to ClinVar
326289347983Likely_benignNiemann-Pick_disease,_type_C.0.09066HET Link to ClinVar
403025390339Benignnot_specified0.663130.6244HOM Link to ClinVar
403026390344Benignnot_specified0.496240.34365HOM Link to ClinVar
403027390346Benignnot_specified0.499540.34066HOM Link to ClinVar
285244269481Uncertain_significanceEpidermolysis_bullosa,_junctional
Laryngoonychocutaneous_syndrome
not_provided
0.0003.HET Link to ClinVar
255576256613BenignEpidermolysis_bullosa,_junctional
Laryngoonychocutaneous_syndrome
not_specified
0.999981HOM Link to ClinVar
255577256614BenignEpidermolysis_bullosa,_junctional
Laryngoonychocutaneous_syndrome
not_specified
.0.94888HOM Link to ClinVar
255579256616Likely_benignnot_specified0.536320.35963HOM Link to ClinVar
255580256617BenignEpidermolysis_bullosa,_junctional
Laryngoonychocutaneous_syndrome
not_specified
0.537730.35903HOM Link to ClinVar
402800390307Benignnot_specified0.999981HOM Link to ClinVar
672125669745Benignnot_provided..HOM Link to ClinVar
672124668334Benignnot_provided..HOM Link to ClinVar
683467668344Benignnot_provided..HET Link to ClinVar
683843669755Benignnot_provided..HET Link to ClinVar
672123669220Benignnot_provided..HET Link to ClinVar
683468669434Benignnot_provided..HET Link to ClinVar
672107669225Benignnot_provided..HET Link to ClinVar
671090668367Benignnot_provided..HET Link to ClinVar
402801390348Benignnot_specified0.434430.36262HET Link to ClinVar
402802390312Benignnot_specified0.434350.32768HET Link to ClinVar
326416348146Likely_benignLocalized_AR_Hypotrichosis0.143150.12161HET Link to ClinVar
326418346896BenignLocalized_AR_Hypotrichosis0.745270.72065HOM Link to ClinVar
326421341369BenignLocalized_AR_Hypotrichosis0.774270.80491HOM Link to ClinVar
326441331139BenignLocalized_AR_Hypotrichosis0.920260.96586HOM Link to ClinVar
326452348172BenignLocalized_AR_Hypotrichosis0.443020.39337HET Link to ClinVar
326458341405BenignLocalized_AR_Hypotrichosis0.723910.74321HOM Link to ClinVar
683472669769Benignnot_provided..HOM Link to ClinVar
672609669801Benignnot_provided..HOM Link to ClinVar
683478669803Benignnot_provided..HOM Link to ClinVar
683479669804Benignnot_provided..HET Link to ClinVar
671111669509Benignnot_provided..HET Link to ClinVar
672662668453Benignnot_provided..HOM Link to ClinVar
672665669840Benignnot_provided..HOM Link to ClinVar
683485669842Benignnot_provided..HOM Link to ClinVar
672694668454Benignnot_provided..HOM Link to ClinVar
137181140884Benignnot_specified0.240610.26697HOM Link to ClinVar
159884169419Likely_benignnot_specified0.507270.49301HET Link to ClinVar
326725331273BenignSchinzel-Giedion_syndrome
not_specified
0.514580.49381HET Link to ClinVar
159885169420BenignSchinzel-Giedion_syndrome
not_specified
not_provided
.0.15675HET Link to ClinVar
159875169429BenignSchinzel-Giedion_syndrome
not_specified
not_provided
0.877480.90695HOM Link to ClinVar
159881169435Conflicting_interpretations_of_pathogenicitySchinzel-Giedion_syndrome
not_specified
00.0006HET Link to ClinVar
326796347040BenignSchinzel-Giedion_syndrome..HET Link to ClinVar
673502656487Benignnot_provided..HET Link to ClinVar
680068656488Benignnot_provided..HET Link to ClinVar
402833390442BenignVici_syndrome
not_specified
not_provided
0.49090.42692HET Link to ClinVar
683334669516Benignnot_provided..HET Link to ClinVar
683333669518Benignnot_provided..HET Link to ClinVar
377534375923Benignnot_specified0.381620.31589HET Link to ClinVar
683326668456Benignnot_provided..HET Link to ClinVar
683323669523Benignnot_provided..HET Link to ClinVar
683322669851Benignnot_provided..HET Link to ClinVar
683320669525Benignnot_provided..HET Link to ClinVar
683319668463Benignnot_provided..HET Link to ClinVar
262524256660Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.26875.HET Link to ClinVar
178394176692Conflicting_interpretations_of_pathogenicitynot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.004650.0016HET Link to ClinVar
163895176555Benign/Likely_benignnot_specified
not_provided
0.001440.0002HET Link to ClinVar
191090188895BenignDeafness,_autosomal_recessive_77
not_specified
.0.62021HET Link to ClinVar
4793457098Benign/Likely_benignDeafness,_autosomal_recessive_77
not_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.767510.69469HET Link to ClinVar
668869669542Benignnot_provided..HOM Link to ClinVar
675460669552Benignnot_provided..HOM Link to ClinVar
326924348441Uncertain_significanceDiarrhea_with_Microvillus_Atrophy..HET Link to ClinVar
326956347141Uncertain_significanceDiarrhea_with_Microvillus_Atrophy..HET Link to ClinVar
326957348461Uncertain_significanceDiarrhea_with_Microvillus_Atrophy..HET Link to ClinVar
326990347160BenignDiarrhea_with_Microvillus_Atrophy.0.53534HET Link to ClinVar
327014348523BenignCongenital_microvillous_atrophy
not_specified
Diarrhea_with_Microvillus_Atrophy
.0.35403HET Link to ClinVar
327025348528Benignnot_specified
Diarrhea_with_Microvillus_Atrophy
0.253350.29992HET Link to ClinVar
327028348529Benign/Likely_benignnot_specified
Diarrhea_with_Microvillus_Atrophy
0.059130.05312HET Link to ClinVar
327030347190Benignnot_specified
Diarrhea_with_Microvillus_Atrophy
.0.28974HET Link to ClinVar
327031347192Benignnot_specified
Diarrhea_with_Microvillus_Atrophy
0.342010.40475HET Link to ClinVar
327053341822BenignCongenital_microvillous_atrophy
not_specified
Diarrhea_with_Microvillus_Atrophy
0.483070.41134HET Link to ClinVar
327087341861BenignCongenital_microvillous_atrophy
not_specified
Diarrhea_with_Microvillus_Atrophy
0.993090.97344HOM Link to ClinVar
262560256670Benignnot_specified0.300290.19349HET Link to ClinVar
262557256673Benignnot_specified0.296070.29653HET Link to ClinVar
262553256676Benignnot_specified0.319050.20088HET Link to ClinVar
680783668486Benignnot_provided..HET Link to ClinVar
677079669334Benignnot_provided..HET Link to ClinVar
680784669338Benignnot_provided..HOM Link to ClinVar
680785669342Benignnot_provided..HET Link to ClinVar
327175347320BenignMyhre_syndrome
Hereditary_hemorrhagic_telangiectasia_type_1
not_specified
Juvenile_Polyposis
.0.20268HET Link to ClinVar
327208331704BenignMyhre_syndrome
Hereditary_hemorrhagic_telangiectasia_type_1
Juvenile_Polyposis
..HET Link to ClinVar
327211347339BenignMyhre_syndrome
Hereditary_hemorrhagic_telangiectasia_type_1
Juvenile_Polyposis
.0.3782HET Link to ClinVar
769443704620Benignnot_provided..HET Link to ClinVar
327228347356BenignPitt-Hopkins_syndrome.0.39736HET Link to ClinVar
327231341965BenignPitt-Hopkins_syndrome.0.44369HET Link to ClinVar
327244348698BenignPitt-Hopkins_syndrome..HET Link to ClinVar
327246341976Likely_benignPitt-Hopkins_syndrome.0.0024HET Link to ClinVar
327268348735Likely_benignPitt-Hopkins_syndrome..HET Link to ClinVar
327285342011BenignPitt-Hopkins_syndrome..HET Link to ClinVar
327287342018BenignPitt-Hopkins_syndrome..HET Link to ClinVar
327293342031BenignPitt-Hopkins_syndrome..HET Link to ClinVar
9354499449BenignPitt-Hopkins_syndrome
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.371360.34245HET Link to ClinVar
670816668503Benignnot_provided..HET Link to ClinVar
670815669348Benignnot_provided..HET Link to ClinVar
668653669558Benignnot_provided..HET Link to ClinVar
672226669561Benignnot_provided..HET Link to ClinVar
670687669572Benignnot_provided..HET Link to ClinVar
670703669353Benignnot_provided..HET Link to ClinVar
673242669584Likely_benignnot_provided..HET Link to ClinVar
672225668507Benignnot_provided..HET Link to ClinVar
160089169448Benignnot_specified
not_provided
0.489250.57029HET Link to ClinVar
160083169454Benignnot_specified
not_provided
0.217290.19229HET Link to ClinVar
679855669880Benignnot_provided..HET Link to ClinVar
674957668513Benignnot_provided..HET Link to ClinVar
674956669372Benignnot_provided..HET Link to ClinVar
674955668520Benignnot_provided..HET Link to ClinVar
803498791872BenignPitt-Hopkins_syndrome..HOM Link to ClinVar
327316348769BenignProtoporphyria,_erythropoietic,_1.0.22863HET Link to ClinVar
327328342067BenignProtoporphyria,_erythropoietic,_1.0.17492HET Link to ClinVar
327335347443BenignProtoporphyria,_erythropoietic,_1.0.76538HOM Link to ClinVar
327366331802BenignProtoporphyria,_erythropoietic,_1.0.9992HOM Link to ClinVar
327373348807BenignProtoporphyria,_erythropoietic,_1.0.9992HOM Link to ClinVar
255312256682BenignProtoporphyria,_erythropoietic,_1
not_specified
0.702970.75759HET Link to ClinVar
255311256683BenignProtoporphyria,_erythropoietic,_1
not_specified
.0.7496HET Link to ClinVar
327434331897BenignProtoporphyria,_erythropoietic,_10.102910.05172HET Link to ClinVar
55015589BenignJaundice
Erythema
Protoporphyria,_erythropoietic,_1
.0.33467HET Link to ClinVar
327440347495BenignProgressive_familial_intrahepatic_cholestasis.0.14716HET Link to ClinVar
327445342149BenignProgressive_familial_intrahepatic_cholestasis.0.14736HET Link to ClinVar
327449331916BenignProgressive_familial_intrahepatic_cholestasis.0.46605HET Link to ClinVar
259823256688BenignProgressive_familial_intrahepatic_cholestasis
not_specified
0.230620.14058HET Link to ClinVar
259828256696BenignProgressive_familial_intrahepatic_cholestasis
not_specified
.0.99261HOM Link to ClinVar
259827256697Benignnot_specified0.476260.44209HET Link to ClinVar
259826256698BenignProgressive_familial_intrahepatic_cholestasis
not_specified
.0.99461HOM Link to ClinVar
225996227795drug_responsediuretics_response_-_Efficacy
hydrochlorothiazide_response_-_Efficacy
0.284080.27616HET Link to ClinVar
417001402844Benignnot_provided0.004120.0012HET Link to ClinVar
327514347559Likely_benignAnophthalmia_-_microphthalmia..HET Link to ClinVar
327519348931Likely_benignAnophthalmia_-_microphthalmia.0.21446HET Link to ClinVar
327521342194Likely_benignAnophthalmia_-_microphthalmia.0.20567HET Link to ClinVar
327539348942BenignCombined_deficiency_of_factor_V_and_factor_VIII,_1.0.32608HET Link to ClinVar
259793256703Benignnot_specified0.316330.35603HET Link to ClinVar
327583342223BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.79273HOM Link to ClinVar
327588342225BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.82109HOM Link to ClinVar
327591348981BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.85982HOM Link to ClinVar
327594347639BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.4401HET Link to ClinVar
327596348983BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..HOM Link to ClinVar
327597342230BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.85963HOM Link to ClinVar
327603348991BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.85903HOM Link to ClinVar
327620342242BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..HOM Link to ClinVar
327633347684BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.4349HET Link to ClinVar
327639349014BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.85523HOM Link to ClinVar
327640347693BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.54054HOM Link to ClinVar
327645347695BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.85264HOM Link to ClinVar
327646332078BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.85124HOM Link to ClinVar
327655342260Likely_benignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.09365HET Link to ClinVar
327683332119BenignHennekam_lymphangiectasia-lymphedema_syndrome_1.0.30132HET Link to ClinVar
262349256709Conflicting_interpretations_of_pathogenicityHennekam_lymphangiectasia-lymphedema_syndrome_1
not_specified
0.010040.00699HET Link to ClinVar
262355256712BenignHennekam_lymphangiectasia-lymphedema_syndrome_1
not_specified
0.531080.54094HET Link to ClinVar
262353256714Benignnot_specified0.98730.95627HOM Link to ClinVar
262352256715Benignnot_specified0.4530.43231HET Link to ClinVar
803505791879BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..HET Link to ClinVar
225961227796drug_responseantipsychotics_response_-_Toxicity/ADR.0.24002HET Link to ClinVar
226003227797drug_responseamisulpride_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
.0.35124HET Link to ClinVar
518281508906BenignHistory_of_neurodevelopmental_disorder
Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1
not_provided
11HOM Link to ClinVar
259177256719Benign/Likely_benignOsteopetrosis
Paget_disease_of_bone
not_specified
.0.23682HOM Link to ClinVar
193259190423Benign/Likely_benignOsteopetrosis
Paget_disease_of_bone
not_specified
0.1250.23502HOM Link to ClinVar
259183256723Benign/Likely_benignOsteopetrosis
Paget_disease_of_bone
not_specified
0.956220.98083HOM Link to ClinVar
684156669610Benignnot_provided..HOM Link to ClinVar
684155669881Benignnot_provided..HOM Link to ClinVar
130188135635Benignnot_specified0.918440.79074HOM Link to ClinVar
684154669616Benignnot_provided..HOM Link to ClinVar
670493668532Benignnot_provided..HET Link to ClinVar
684135669622Benignnot_provided..HOM Link to ClinVar
684134669890Benignnot_provided..HOM Link to ClinVar
327761349148Benignnot_specified
Disease_Association_NOS
not_provided
..HOM Link to ClinVar
130179135626Benignnot_specified.0.71226HOM Link to ClinVar
130821136266Likely_benignnot_specified0.989830.99361HOM Link to ClinVar
130826136271Likely_benignnot_specified0.832190.76038HOM Link to ClinVar
327774349158BenignAural_atresia,_congenital... Link to ClinVar
327778332189Uncertain_significanceAural_atresia,_congenital..HET Link to ClinVar
193292190456Benignnot_specified0.679240.65535HET Link to ClinVar
259524256726Benignnot_specified.0.73502HET Link to ClinVar
803507791884BenignCongenital_Cataracts,_Facial_Dysmorphism,_and_Neuropathy..HET Link to ClinVar
128865134313BenignCongenital_Cataracts,_Facial_Dysmorphism,_and_Neuropathy
not_specified
0.966570.89517HOM Link to ClinVar
773075705350Benignnot_provided..HET Link to ClinVar
667820670430Benignnot_provided..HOM Link to ClinVar
137199140902Benignnot_specified.0.04852HET Link to ClinVar
402532390449Benignnot_specified0.591380.4409HET Link to ClinVar
286524270761Benignnot_specified
not_provided
0.259110.1863HET Link to ClinVar
447660442261Benignnot_specified0.782710.78395HOM Link to ClinVar
328217332571Likely_benignPeutz-Jeghers_syndrome.0.00379HET Link to ClinVar
256203256769Benignnot_specified0.324740.35344HET Link to ClinVar
256205256771Benignnot_specified0.466050.53015HET Link to ClinVar
256206256772Likely_benignnot_specified..HET Link to ClinVar
328243332606BenignPeutz-Jeghers_syndrome.0.70787HET Link to ClinVar
671566668709Likely_benignnot_provided..HET Link to ClinVar
683138670152Benignnot_provided..HOM Link to ClinVar
129702135148Likely_benignLeigh_syndrome
Mitochondrial_complex_I_deficiency
not_specified
not_provided
0.550220.45567HOM Link to ClinVar
684336669861Benignnot_provided..HET Link to ClinVar
683141669623Benignnot_provided..HOM Link to ClinVar
2106733919BenignDeficiency_of_guanidinoacetate_methyltransferase
not_provided
0.129420.11322HET Link to ClinVar
440243433894Benignnot_specified0.087280.04932HET Link to ClinVar
430490422250Uncertain_significancenot_provided0.000830.0004HET Link to ClinVar
381531377366Benign/Likely_benignPersistent_Mullerian_duct_syndrome
not_specified
not_provided
0.008390.00479HET Link to ClinVar
518297508922BenignPersistent_Mullerian_duct_syndrome0.822570.91893HOM Link to ClinVar
4657155736Benignnot_specified0.146780.22684HET Link to ClinVar
682948669896Benignnot_provided..HET Link to ClinVar
4657255737Benignnot_specified.0.20447HET Link to ClinVar
263264256888Benignnot_specified0.423640.32967HOM Link to ClinVar
263269256889Benignnot_specified0.598170.54173HOM Link to ClinVar
263267256891Benignnot_specified.0.05371HET Link to ClinVar
328952343371BenignMacular_degeneration
Cone-Rod_Dystrophy,_Dominant
.0.81689HET Link to ClinVar
329155333494BenignCerebellar_ataxia,_Cayman_type..HET Link to ClinVar
329196333507BenignCerebellar_ataxia,_Cayman_type.0.83287HET Link to ClinVar
128959134406Benignnot_specified
not_provided
0.849850.91314HOM Link to ClinVar
128958134405Benignnot_specified
not_provided
0.849270.91314HOM Link to ClinVar
561820553028Benignnot_provided.0.45447HET Link to ClinVar
4083549305BenignCardiofaciocutaneous_syndrome_4
not_specified
not_provided
0.771760.77356HET Link to ClinVar
4081649286BenignCardiofaciocutaneous_syndrome_4
Rasopathy
not_specified
not_provided
0.547170.43331HET Link to ClinVar
561536553038Benignnot_provided.0.33007HET Link to ClinVar
561366553042Benignnot_provided.0.79553HOM Link to ClinVar
403542390426Benignnot_specified0.66520.72564HET Link to ClinVar
24277032755...0.2528HET Link to ClinVar
768957705303Benignnot_provided..HET Link to ClinVar
330240349414Likely_benignMitochondrial_complex_I_deficiency0.674980.68151HET Link to ClinVar
330244334435Likely_benignMitochondrial_complex_I_deficiency0.748870.72664HET Link to ClinVar
330250344317BenignDystonia
Leukodystrophy,_hypomyelinating,_6
.0.40156HET Link to ClinVar
330285349446BenignMacular_degeneration
C3_deficiency
Atypical_hemolytic_uremic_syndrome
0.085250.09125HET Link to ClinVar
330310350452Likely_benignMacular_degeneration
C3_deficiency
Atypical_hemolytic_uremic_syndrome
0.002090.0008HET Link to ClinVar
403601390471Benignnot_specified0.127020.09285HOM Link to ClinVar
403602390329Benignnot_specified0.260940.21126HOM Link to ClinVar
330380350496BenignLeprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
.0.71765HOM Link to ClinVar
330433350526BenignLeprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
..HOM Link to ClinVar
330436334616BenignLeprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
.0.8774HOM Link to ClinVar
1470729746Conflicting_interpretations_of_pathogenicityDiabetes_mellitus_type_2
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
Monogenic_diabetes
not_specified
not_provided
0.0090.00499HET Link to ClinVar
439832433296Benignnot_specified0.239240.20427HET Link to ClinVar
198697195858BenignLeprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
not_specified
.0.24481HET Link to ClinVar
439831433297Benignnot_specified.0.2478HET Link to ClinVar
439830433299Benignnot_specified0.472210.54972HET Link to ClinVar
193063190228BenignLeprechaunism_syndrome
Pineal_hyperplasia_AND_diabetes_mellitus_syndrome
Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans
not_specified
11HOM Link to ClinVar
261324257262Benign/Likely_benignMucolipidosis_type_IV
not_specified
not_provided
0.287450.25559HET Link to ClinVar
129977135423Benign/Likely_benignnot_specified
Spastic_Paraplegia,_Recessive
not_provided
.0.11841HET Link to ClinVar
330520344527Benign/Likely_benignnot_specified
Spastic_Paraplegia,_Recessive
0.281370.24381HET Link to ClinVar
330522334701Benignnot_specified
Spastic_Paraplegia,_Recessive
not_provided
0.638550.69449HET Link to ClinVar
129978135424Benign/Likely_benignnot_specified
Spastic_Paraplegia,_Recessive
0.21360.20208HET Link to ClinVar
380864379673Benignnot_specified0.36880.34705HET Link to ClinVar
380865376888Benignnot_specified0.392490.34685HET Link to ClinVar
680709668986Benignnot_provided..HET Link to ClinVar
378402376892Benignnot_specified0.129770.1256HET Link to ClinVar
680710670169Benignnot_provided..HET Link to ClinVar
667947670093Benignnot_provided..HET Link to ClinVar
240699243570Conflicting_interpretations_of_pathogenicitySpastic_paraplegia_39
not_specified
Spastic_Paraplegia,_Recessive
0.010980.00419HET Link to ClinVar
680711670174Benignnot_provided..HET Link to ClinVar
429198422303Benignnot_specified..HOM Link to ClinVar
683454668992Benignnot_provided..HET Link to ClinVar
683460670177Benignnot_provided..HET Link to ClinVar
683462670415Benignnot_provided..HET Link to ClinVar
403501390372Benignnot_specified0.390250.2478HET Link to ClinVar
260104257265BenignFamilial_hemophagocytic_lymphohistiocytosis
not_specified
0.404370.48243HET Link to ClinVar
260087257278Benignnot_specified0.393180.52696HET Link to ClinVar
260088257280Benignnot_specified0.461960.51637HET Link to ClinVar
260089257281BenignFamilial_hemophagocytic_lymphohistiocytosis
not_specified
0.462640.50419HET Link to ClinVar
260092257284Benignnot_specified0.105680.05611HET Link to ClinVar
260094257286BenignFamilial_hemophagocytic_lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis,_familial,_5
not_specified
0.635160.70607HET Link to ClinVar
260100257290Benignnot_specified0.358220.3157HET Link to ClinVar
260102257292Benignnot_specified..HET Link to ClinVar
137647141350Benignnot_specified
not_provided
0.030770.01418HET Link to ClinVar
137657141360Benignnot_specified0.261280.17272HET Link to ClinVar
508144508029Benignnot_specified0.085490.1284HET Link to ClinVar
518307508932BenignWeill-Marchesani_syndrome_1
not_provided
0.999890.9998HOM Link to ClinVar
330587349596BenignWeill-Marchesani_syndrome
not_provided
0.208340.1847HET Link to ClinVar
330610344604BenignWeill-Marchesani_syndrome
Weill-Marchesani_syndrome_1
0.79940.89397HOM Link to ClinVar
770806705381Benignnot_provided..HET Link to ClinVar
180725178886associationCataplexy_and_narcolepsy.0.66554HOM Link to ClinVar
180727178887associationCataplexy_and_narcolepsy.0.6224HOM Link to ClinVar
180728178888associationCataplexy_and_narcolepsy.0.65555HOM Link to ClinVar
180730178889associationCataplexy_and_narcolepsy.0.64317HOM Link to ClinVar
680553669651Benignnot_provided..HET Link to ClinVar
681295669394Benignnot_provided..HET Link to ClinVar
257538256731Benignnot_specified
Dementia,_Deafness,_and_Sensory_Neuropathy
0.517970.53335HOM Link to ClinVar
257537256732Benignnot_specified
Dementia,_Deafness,_and_Sensory_Neuropathy
.0.99581HOM Link to ClinVar
257536256733Benignnot_specified
Dementia,_Deafness,_and_Sensory_Neuropathy
0.518760.53395HOM Link to ClinVar
327914332327BenignDementia,_Deafness,_and_Sensory_Neuropathy... Link to ClinVar
137133140836Benignnot_specified
Dementia,_Deafness,_and_Sensory_Neuropathy
0.131960.19828HET Link to ClinVar
679319669428Benignnot_provided..HOM Link to ClinVar
679318669912Benignnot_provided..HOM Link to ClinVar
506085497508Benignnot_specified.0.55192HOM Link to ClinVar
380038377003Benignnot_specified0.567550.49281HET Link to ClinVar
380037379161Benignnot_specified0.489370.49281HET Link to ClinVar
673301668546Benignnot_provided..HET Link to ClinVar
673300668547Benignnot_provided..HOM Link to ClinVar
677727669437Benignnot_provided..HET Link to ClinVar
137868141571Benign/Likely_benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
0.121950.09645HET Link to ClinVar
259041256741Benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
0.508210.53315HOM Link to ClinVar
137865141568Benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
0.321710.32987HET Link to ClinVar
673299669946Benignnot_provided..HET Link to ClinVar
677150669654Benignnot_provided..HOM Link to ClinVar
137864141567Benign/Likely_benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
0.064020.04373HET Link to ClinVar
259040256742Benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
0.276840.26578HET Link to ClinVar
327965342535BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_Recessive.0.17871HET Link to ClinVar
256866256744Benignnot_specified0.552780.55711HOM Link to ClinVar
210855208503Likely_benignnot_specified..HET Link to ClinVar
679311669952Benignnot_provided..HOM Link to ClinVar
679312669670Benignnot_provided..HET Link to ClinVar
676520668593Benignnot_provided..HOM Link to ClinVar
676521669691Benignnot_provided..HET Link to ClinVar
226710230979Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia_1
not_specified
not_provided
0.999931HOM Link to ClinVar
251997246298Benign/Likely_benignFamilial_hypercholesterolemia_1
not_specified
0.115840.08886HET Link to ClinVar
3646045123Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia
Familial_hypercholesterolemia_1
not_specified
not_provided
0.006940.0028HET Link to ClinVar
252262246555Benign/Likely_benignFamilial_hypercholesterolemia_1
not_specified
0.776210.78015HET Link to ClinVar
252277246570Likely_benignFamilial_hypercholesterolemia_1.0.85663HOM Link to ClinVar
265907260662BenignFamilial_hypercholesterolemia_10.247610.23183HET Link to ClinVar
265908260663BenignFamilial_hypercholesterolemia_1.0.23403HET Link to ClinVar
265910260665Benign/Likely_benignFamilial_hypercholesterolemia_10.246390.23363HET Link to ClinVar
328058332460Likely_benignFamilial_hypercholesterolemia_10.842430.752HOM Link to ClinVar
328064349296Likely_benignFamilial_hypercholesterolemia_1.0.3115HET Link to ClinVar
328070348008Likely_benignFamilial_hypercholesterolemia_1.0.63718HET Link to ClinVar
328072332467Likely_benignFamilial_hypercholesterolemia_1.0.23443HET Link to ClinVar
328086349320Likely_benignFamilial_hypercholesterolemia_1.0.23443HET Link to ClinVar
328089349323Likely_benignFamilial_hypercholesterolemia_1..HET Link to ClinVar
328091332482Likely_benignFamilial_hypercholesterolemia_1.0.80092HOM Link to ClinVar
328095342679Likely_benignFamilial_hypercholesterolemia_1.0.23423HET Link to ClinVar
328097348015Likely_benignFamilial_hypercholesterolemia_1.0.16374HET Link to ClinVar
328099348025Likely_benignFamilial_hypercholesterolemia_1.0.23423HET Link to ClinVar
328101349330Likely_benignFamilial_hypercholesterolemia_1.0.11042HET Link to ClinVar
328102349331Likely_benignFamilial_hypercholesterolemia_1.0.25938HET Link to ClinVar
328103342685Likely_benignFamilial_hypercholesterolemia_1.0.23423HET Link to ClinVar
328104332486Likely_benignFamilial_hypercholesterolemia_1.0.23423HET Link to ClinVar
328122342698Likely_benignFamilial_hypercholesterolemia_1..HOM Link to ClinVar
518283508908BenignAdams-Oliver_syndrome_20.538650.44169HOM Link to ClinVar
518285508910BenignAdams-Oliver_syndrome_2.0.5008HOM Link to ClinVar
518286508911BenignAdams-Oliver_syndrome_20.556470.45268HOM Link to ClinVar
518287508912BenignAdams-Oliver_syndrome_20.403510.27836HET Link to ClinVar
518288508913BenignAdams-Oliver_syndrome_2.0.59345HOM Link to ClinVar
518289508914BenignAdams-Oliver_syndrome_20.643570.57947HOM Link to ClinVar
518290508915BenignAdams-Oliver_syndrome_2.0.3135HET Link to ClinVar
261359256758BenignAdams-Oliver_syndrome_2
not_specified
0.64660.51957HET Link to ClinVar
261356256759BenignAdams-Oliver_syndrome_2
not_specified
0.696640.59125HOM Link to ClinVar
262567257300Benignnot_specified0.963420.91234HOM Link to ClinVar
9407899980BenignPolycystic_liver_disease_1
not_specified
0.99220.99461HOM Link to ClinVar
9408099982Benignnot_specified... Link to ClinVar
684380670033Benignnot_provided..HOM Link to ClinVar
684379669713Benignnot_provided..HOM Link to ClinVar
684378669716Benignnot_provided..HOM Link to ClinVar
684376668607Benignnot_provided..HOM Link to ClinVar
684375669539Benignnot_provided..HOM Link to ClinVar
558861549786Benignnot_provided0.531050.36781HOM Link to ClinVar
684373670038Benignnot_provided..HOM Link to ClinVar
9320799114BenignDeficiency_of_alpha-mannosidase
not_specified
not_provided
.0.2484HOM Link to ClinVar
9321899125BenignDeficiency_of_alpha-mannosidase
not_specified
not_provided
.0.32788HOM Link to ClinVar
684372669718Benignnot_provided..HOM Link to ClinVar
9321799124BenignDeficiency_of_alpha-mannosidase
not_specified
not_provided
0.256650.23942HET Link to ClinVar
684371669722Benignnot_provided..HOM Link to ClinVar
260001256779BenignCongenital_dyserythropoietic_anemia
not_specified
0.439210.44429HET Link to ClinVar
208504205029BenignGlutaric_acidemia
Glutaric_aciduria,_type_1
0.613020.72045HET Link to ClinVar
668052669540Benignnot_provided..HET Link to ClinVar
668051668613Benignnot_provided..HOM Link to ClinVar
388018379328Benign/Likely_benignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
..HET Link to ClinVar
678196669548Benignnot_provided..HOM Link to ClinVar
678195669549Benignnot_provided..HOM Link to ClinVar
668050669747Benignnot_provided..HOM Link to ClinVar
678193668623Benignnot_provided..HOM Link to ClinVar
668778669756Benignnot_provided..HET Link to ClinVar
678182668641Benignnot_provided..HOM Link to ClinVar
678179669789Benignnot_provided..HOM Link to ClinVar
680063668657Benignnot_provided..HOM Link to ClinVar
680060668658Benignnot_provided..HET Link to ClinVar
680059669571Benignnot_provided..HOM Link to ClinVar
680058668661Benignnot_provided..HET Link to ClinVar
680057669792Benignnot_provided..HOM Link to ClinVar
680056669579Benignnot_provided..HET Link to ClinVar
257510256786Benignnot_specified0.749090.73922HOM Link to ClinVar
680055670110Benignnot_provided..HET Link to ClinVar
668029668686Benignnot_provided..HET Link to ClinVar
668028670125Benignnot_provided..HET Link to ClinVar
678170669844Benignnot_provided..HET Link to ClinVar
9355999464BenignHistory_of_neurodevelopmental_disorder
not_specified
0.685680.64117HET Link to ClinVar
668027668687Benignnot_provided..HET Link to ClinVar
678169669849Benignnot_provided..HET Link to ClinVar
678168668704Benignnot_provided..HET Link to ClinVar
128619134068BenignHistory_of_neurodevelopmental_disorder
not_specified
0.210380.125HET Link to ClinVar
156715166575not_providednot_provided0.22187.HET Link to ClinVar
328357332715BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1.0.6238HOM Link to ClinVar
328360349437BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1.0.6238HOM Link to ClinVar
328361342885BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1.0.6234HOM Link to ClinVar
328363332719Likely_benignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1.0.01098HET Link to ClinVar
256152256792BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.759070.62939HOM Link to ClinVar
811011800100Benignnot_specified..HOM Link to ClinVar
256145256798BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
.0.86901HOM Link to ClinVar
811010800101Benignnot_specified..HOM Link to ClinVar
256141256802Benignnot_specified0.871720.86661HOM Link to ClinVar
811008800102Benignnot_specified..HOM Link to ClinVar
256140256803BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.874070.87001HOM Link to ClinVar
811007800103Benignnot_specified..HOM Link to ClinVar
256138256805BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.881240.87181HOM Link to ClinVar
811005800107Benignnot_specified..HOM Link to ClinVar
811006800109Benignnot_specified..HOM Link to ClinVar
811009800112Benignnot_specified..HOM Link to ClinVar
256130256812BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.801930.73902HOM Link to ClinVar
256129256813BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.642740.51997HOM Link to ClinVar
256120256822Benign/Likely_benignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.020720.00359HET Link to ClinVar
256118256823BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.857230.85423HOM Link to ClinVar
256117256824Benign/Likely_benignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.025570.01518HET Link to ClinVar
256148256825BenignCerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_type_1
not_specified
0.858120.85583HOM Link to ClinVar
328441348283BenignCongenital_ichthyosiform_erythroderma..HET Link to ClinVar
328452342948BenignCongenital_ichthyosiform_erythroderma.0.83027HET Link to ClinVar
328454348301BenignCongenital_ichthyosiform_erythroderma.0.51218HET Link to ClinVar
328458349507BenignCongenital_ichthyosiform_erythroderma.0.41574HET Link to ClinVar
770460704825Benignnot_provided..HET Link to ClinVar
770462704830Benignnot_provided..HET Link to ClinVar
225969227800drug_responsewarfarin_response_-_Other
acenocoumarol_response_-_Dosage
phenprocoumon_response_-_Dosage
warfarin_response_-_Dosage
0.272580.23682HET Link to ClinVar
496549487993BenignFamilial_hypertrophic_cardiomyopathy_19
not_specified
Cardiovascular_phenotype
not_provided
.0.65056HET Link to ClinVar
496548488044BenignFamilial_hypertrophic_cardiomyopathy_19
not_specified
Cardiovascular_phenotype
not_provided
0.149150.14457HET Link to ClinVar
496547487994BenignFamilial_hypertrophic_cardiomyopathy_19
not_provided
0.122060.11402HET Link to ClinVar
496546487995BenignFamilial_hypertrophic_cardiomyopathy_19
not_specified
Cardiovascular_phenotype
not_provided
0.701450.65895HET Link to ClinVar
669942668721Benignnot_provided..HET Link to ClinVar
672549669873Benignnot_provided..HOM Link to ClinVar
137601141304Benignnot_specified
Severe_Combined_Immune_Deficiency
0.161580.11382HET Link to ClinVar
256199256834Benign/Likely_benignThyroid_dyshormonogenesis_1
not_specified
Thyroid_Hormonogenesis_Defect
0.17950.1246HET Link to ClinVar
328548349547Likely_benignThyroid_Hormonogenesis_Defect.0.15196HET Link to ClinVar
328572343055BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_Recessive0.309020.1863HET Link to ClinVar
328587332869Benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
.0.2516HET Link to ClinVar
328588348404Benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
0.289420.26857HET Link to ClinVar
328596348413Benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
.0.22983HET Link to ClinVar
328597343076Benign/Likely_benignDisseminated_atypical_mycobacterial_infection
not_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
0.277130.22943HET Link to ClinVar
328599348415Benignnot_specified
Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive
0.118540.12999HET Link to ClinVar
497079488503Benignnot_specified0.896060.92392HOM Link to ClinVar
803546791917BenignMegalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1..HOM Link to ClinVar
518294508919BenignMegalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_10.880.86242HOM Link to ClinVar
468323469943BenignMegalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_10.043590.01957HET Link to ClinVar
255121256838Benignnot_specified0.271950.19868HOM Link to ClinVar
255119256840Benign/Likely_benignPseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome
Multiple_Epiphyseal_Dysplasia,_Dominant
not_specified
0.049550.01957HET Link to ClinVar
255118256843Benignnot_specified0.12230.11442HET Link to ClinVar
328635332938Likely_benignMHC_Class_II_Deficiency.0.0631HET Link to ClinVar
328642332953Conflicting_interpretations_of_pathogenicitynot_specified
MHC_Class_II_Deficiency
0.052270.02875HET Link to ClinVar
328657348470Likely_benignNeurodegeneration_with_brain_iron_accumulation_4.0.10124HET Link to ClinVar
328672349599BenignNeurodegeneration_with_brain_iron_accumulation_40.689350.66494HET Link to ClinVar
328674332984BenignNeurodegeneration_with_brain_iron_accumulation_40.694130.6871HET Link to ClinVar
328692333006BenignNeurodegeneration_with_brain_iron_accumulation_40.695970.70967HET Link to ClinVar
328706349620Likely_benignNeurodegeneration_with_brain_iron_accumulation_40.136050.10144HET Link to ClinVar
328712348512BenignNeurodegeneration_with_brain_iron_accumulation_40.554660.61761HET Link to ClinVar
328714349622BenignNeurodegeneration_with_brain_iron_accumulation_40.676660.61861HET Link to ClinVar
128537133985BenignNeurodegeneration_with_brain_iron_accumulation_4
not_specified
0.6670.61382HET Link to ClinVar
328740333045Likely_benignCystinuria.0.17492HET Link to ClinVar
328747333057Likely_benignCystinuria0.205870.2482HET Link to ClinVar
328754349637Likely_benignCystinuria0.297280.27816HOM Link to ClinVar
328755333073Benign/Likely_benignCystinuria0.297110.27816HOM Link to ClinVar
328756343180Likely_benignCystinuria0.106410.07228HET Link to ClinVar
328759333077Likely_benignCystinuria0.30050.27995HOM Link to ClinVar
328760349639Likely_benignCystinuria0.113020.08087HET Link to ClinVar
328761343185Likely_benignCystinuria0.309830.30611HOM Link to ClinVar
328762348553Likely_benignCystinuria.0.07228HET Link to ClinVar
328763333082Likely_benignCystinuria0.194170.21146HET Link to ClinVar
328774333089BenignCystinuria.0.53974HOM Link to ClinVar
328776343197BenignProlidase_deficiency..HET Link to ClinVar
328777343199BenignProlidase_deficiency.0.28135HET Link to ClinVar
328781348563BenignProlidase_deficiency.0.25839HET Link to ClinVar
328791348567BenignProlidase_deficiency
not_specified
0.336560.27836HET Link to ClinVar
328799343220BenignProlidase_deficiency
not_specified
0.148440.09844HET Link to ClinVar
683808669637Benignnot_provided..HET Link to ClinVar
673876669657Likely_benignnot_provided..HET Link to ClinVar
138998142701Benignnot_specified
not_provided
0.426180.3776HET Link to ClinVar
683809668731Benignnot_provided..HET Link to ClinVar
683811669661Benignnot_provided..HET Link to ClinVar
259500256879Benign/Likely_benignFinnish_congenital_nephrotic_syndrome
not_specified
not_provided
.0.29193HET Link to ClinVar
193150190315Benignnot_specified11HOM Link to ClinVar
227091231000Benignnot_specified0.927380.91274HOM Link to ClinVar
137909141612Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2
not_specified
Primary_Microcephaly_2_With_or_Without_Cortical_Malformations
.0.1256HET Link to ClinVar
670276668738Benignnot_provided..HET Link to ClinVar
670277668739Benignnot_provided..HOM Link to ClinVar
670861670181Benignnot_provided..HET Link to ClinVar
670278668743Benignnot_provided..HOM Link to ClinVar
160252169493Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2
not_specified
Primary_Microcephaly_2_With_or_Without_Cortical_Malformations
.0.125HET Link to ClinVar
160254169494Benignnot_specified
not_provided
0.091450.05651HET Link to ClinVar
670280670185Benignnot_provided..HET Link to ClinVar
667588669682Benignnot_provided..HOM Link to ClinVar
160265169504Benignnot_specified
not_provided
0.178860.125HET Link to ClinVar
160269169508Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2
not_specified
Primary_Microcephaly_2_With_or_Without_Cortical_Malformations
not_provided
0.642560.65415HET Link to ClinVar
677466669710Benignnot_provided..HET Link to ClinVar
160301169537BenignPrimary_autosomal_recessive_microcephaly_2
not_specified
Primary_Microcephaly_2_With_or_Without_Cortical_Malformations
not_provided
0.742790.71625HET Link to ClinVar
789119716399Benignnot_provided..HET Link to ClinVar
677199656528Benignnot_provided..HET Link to ClinVar
677198656529Benignnot_provided..HET Link to ClinVar
677197656530Benignnot_provided..HOM Link to ClinVar
677196656532Benignnot_provided..HOM Link to ClinVar
677195656535Benignnot_provided..HOM Link to ClinVar
677194656537Benignnot_provided..HET Link to ClinVar
677193656538Benignnot_provided..HET Link to ClinVar
677192656540Benignnot_provided..HOM Link to ClinVar
677235656542Benignnot_provided..HET Link to ClinVar
677211656547Benignnot_provided..HOM Link to ClinVar
133131136878Benignnot_provided.0.80691HOM Link to ClinVar
9327799184Benign/Likely_benignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.60740.54333HOM Link to ClinVar
256531256905Likely_benignnot_specified
not_provided
..HOM Link to ClinVar
680756670195Benignnot_provided..HOM Link to ClinVar
9324399150BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
.0.90395HOM Link to ClinVar
133008136756Benignnot_provided0.983240.99461HOM Link to ClinVar
669161669746Benignnot_provided..HOM Link to ClinVar
133064136812Benignnot_provided.0.57228HOM Link to ClinVar
669164668796Benignnot_provided..HOM Link to ClinVar
133065136813Benignnot_specified
not_provided
0.879950.90196HOM Link to ClinVar
9325899165BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.636560.57129HOM Link to ClinVar
133107136854Benignnot_specified
not_provided
.0.57189HOM Link to ClinVar
133110136857Benignnot_provided.0.58387HOM Link to ClinVar
680757670217Benignnot_provided..HOM Link to ClinVar
133113136860Benignnot_provided.0.55511HOM Link to ClinVar
9325999166BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.621130.55411HOM Link to ClinVar
133115136862Benignnot_provided.0.55371HOM Link to ClinVar
669171668799Benignnot_provided..HOM Link to ClinVar
9326199168BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.596190.54553HOM Link to ClinVar
9328499191BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.071880.08446HET Link to ClinVar
9328599192BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
.0.12181HET Link to ClinVar
9328699193Benignnot_specified
not_provided
0.069450.08466HET Link to ClinVar
9328999196BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.222050.26038HET Link to ClinVar
9329299199BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.336580.42193HET Link to ClinVar
9329499201BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.182080.23782HET Link to ClinVar
133216136963Benignnot_specified
not_provided
0.338990.42891HET Link to ClinVar
9329699203BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.32610.41234HET Link to ClinVar
669218669807Benignnot_provided..HET Link to ClinVar
669220669810Benignnot_provided..HET Link to ClinVar
256570257017Benignnot_specified..HET Link to ClinVar
9329799204BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.326430.41514HET Link to ClinVar
9329899205BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.329420.41713HET Link to ClinVar
9329999206BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.329410.40595HET Link to ClinVar
133224136969Benignnot_specified
not_provided
0.339110.40595HET Link to ClinVar
133227136972Benignnot_specified
not_provided
0.318550.40595HET Link to ClinVar
133228136973Benignnot_specified
not_provided
.0.40575HET Link to ClinVar
133229136974Benignnot_provided.0.40595HET Link to ClinVar
669227670245Benignnot_provided..HET Link to ClinVar
9330099207BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.326460.40815HET Link to ClinVar
133231136976Benignnot_specified
not_provided
0.323530.40615HET Link to ClinVar
133233136978Benignnot_specified
not_provided
.0.40615HET Link to ClinVar
590617581559Benignnot_specified
not_provided
.0.40615HET Link to ClinVar
9330299209BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.324270.40615HET Link to ClinVar
9330399210Benignnot_specified
not_provided
0.321950.40495HET Link to ClinVar
133235136980Benignnot_specified
not_provided
0.320770.40595HET Link to ClinVar
133236136981Benignnot_provided.0.40555HET Link to ClinVar
669247668819Benignnot_provided..HET Link to ClinVar
680760669815Benignnot_provided..HET Link to ClinVar
256576257022Benignnot_specified..HET Link to ClinVar
9330699213BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.32510.40695HET Link to ClinVar
9323999146BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.05620.02975HET Link to ClinVar
132998136746Benignnot_provided.0.34984HET Link to ClinVar
9324299149Benign/Likely_benignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.072880.1242HET Link to ClinVar
133000136748not_providednot_provided0.331360.26797HET Link to ClinVar
256396257045Benign/Likely_benignnot_specified
not_provided
0.004450.0014HET Link to ClinVar
669253668826Benignnot_provided..HET Link to ClinVar
256413257060Benignnot_specified0.050350.04553HET Link to ClinVar
133039136787not_providednot_provided.0.40535HET Link to ClinVar
680798669976Benignnot_provided..HET Link to ClinVar
9325199158Benign/Likely_benignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
not_provided
0.104510.03235HET Link to ClinVar
9325399160BenignMalignant_hyperthermia_susceptibility
Myopathy,_Central_Core
Multiminicore_Disease
Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber
not_specified
RYR1-Related_Disorders
not_provided
0.046040.03355HET Link to ClinVar
256455257097Benignnot_specified
not_provided
0.062440.02756HET Link to ClinVar
259582257104BenignFocal_segmental_glomerulosclerosis_1
not_specified
0.410490.33926HET Link to ClinVar
559111549789Benignnot_provided0.099180.07588HET Link to ClinVar
559115549793Benignnot_provided0.472710.36502HET Link to ClinVar
329207349792Likely_benignHyperuricemia,_pulmonary_hypertension,_renal_failure,_and_alkalosis0.444720.55072HET Link to ClinVar
683699669847Benignnot_provided..HOM Link to ClinVar
329212348834BenignHyperuricemia,_pulmonary_hypertension,_renal_failure,_and_alkalosis
not_provided
0.706610.83467HOM Link to ClinVar
683696669850Benignnot_provided..HET Link to ClinVar
683694668849Benignnot_provided..HET Link to ClinVar
670037668850Benignnot_provided..HET Link to ClinVar
329227348839BenignHyperuricemia,_pulmonary_hypertension,_renal_failure,_and_alkalosis0.712110.84205HOM Link to ClinVar
769454704975Benignnot_provided..HET Link to ClinVar
4137949803BenignSyndactyly
Jarcho-Levin_syndrome
Spondylocostal_dysostosis_1,_autosomal_recessive
not_specified
0.568640.62999HET Link to ClinVar
130053135499BenignCharcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.946920.96546HOM Link to ClinVar
130052135498Benign/Likely_benignCharcot-Marie-Tooth_disease,_demyelinating,_type_4F
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
.0.09924HET Link to ClinVar
130050135496BenignCharcot-Marie-Tooth_disease,_demyelinating,_type_4F
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.350440.29673HET Link to ClinVar
130049135495BenignCharcot-Marie-Tooth_disease,_demyelinating,_type_4F
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.507040.53195HOM Link to ClinVar
130048135494BenignCharcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.506850.53195HOM Link to ClinVar
130051135497Benign/Likely_benignCharcot-Marie-Tooth_disease,_demyelinating,_type_4F
Charcot-Marie-Tooth_disease_type_4
not_specified
not_provided
0.145470.10224HET Link to ClinVar
680722668856Benignnot_provided..HET Link to ClinVar
678506670267Benignnot_provided..HOM Link to ClinVar
678507670270Benignnot_provided..HOM Link to ClinVar
163945176729BenignCutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified
0.499420.52436HET Link to ClinVar
677985670278Benignnot_provided..HET Link to ClinVar
683627670279Benignnot_provided..HET Link to ClinVar
163946176593BenignCutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified
0.447950.49521HET Link to ClinVar
178781176731BenignCutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified
0.458980.49501HET Link to ClinVar
163947176594Benign/Likely_benignCutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified
.0.04812HET Link to ClinVar
683628668872Benignnot_provided..HET Link to ClinVar
683623668875Benignnot_provided..HET Link to ClinVar
178782176026BenignCutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified
0.537670.41713HET Link to ClinVar
163950176027BenignCutis_laxa_with_severe_pulmonary,_gastrointestinal,_and_urinary_abnormalities
not_specified
0.438870.51877HET Link to ClinVar
678606669888Benignnot_provided..HET Link to ClinVar
384699377666Benignnot_specified.0.13678HET Link to ClinVar
683204668881Benignnot_provided..HOM Link to ClinVar
380101376538Benignnot_specified
not_provided
0.033450.01318HET Link to ClinVar
379941376545Benignnot_specified
not_provided
0.526020.53754HOM Link to ClinVar
380045376552Benignnot_specified
not_provided
0.151280.09924HET Link to ClinVar
768996705005Benignnot_provided..HOM Link to ClinVar
226002227803drug_responseefavirenz_response_-_Metabolism/PK0.335280.28914HET Link to ClinVar
2967138626drug_responseEfavirenz_response
efavirenz_response_-_Dosage
methadone_response_-_Dosage
efavirenz_response_-_Toxicity/ADR
nevirapine_response_-_Other
.0.3157HET Link to ClinVar
120171125779drug_responseEfavirenz_response
efavirenz_response_-_Metabolism/PK
0.05632.HET Link to ClinVar
375661362510drug_responseefavirenz_response_-_Metabolism/PK.0.73482HOM Link to ClinVar
1253427573BenignBreast_cancer,_invasive,_susceptibility_to
Diaphyseal_dysplasia
Cystic_fibrosis
not_specified
.0.54533HOM Link to ClinVar
3930247908BenignDiaphyseal_dysplasia.0.63199HOM Link to ClinVar
261879257134Benign/Likely_benignMeckel-Gruber_syndrome
not_specified
0.063570.04133HET Link to ClinVar
261881257138BenignMeckel-Gruber_syndrome
Meckel_syndrome,_type_10
not_specified
not_provided
0.654960.64956HOM Link to ClinVar
680489670293Benignnot_provided..HET Link to ClinVar
9333499241Likely_benignMaple_syrup_urine_disease
not_specified
0.11720.08247HET Link to ClinVar
680490669927Benignnot_provided..HOM Link to ClinVar
9334199248Benign/Likely_benignMaple_syrup_urine_disease
not_specified
not_provided
.0.05531HET Link to ClinVar
9335799264BenignMaple_syrup_urine_disease
not_specified
0.598950.61601HOM Link to ClinVar
676107670294Benignnot_provided..HOM Link to ClinVar
9338299289BenignMaple_syrup_urine_disease
not_specified
0.599350.61641HOM Link to ClinVar
9338699293Benign/Likely_benignnot_specified
not_provided
0.37220.25739HET Link to ClinVar
9338799294Benign/Likely_benignnot_specified0.589560.58566HOM Link to ClinVar
9338999296Benign/Likely_benignnot_specified..HOM Link to ClinVar
680491670031Benignnot_provided..HOM Link to ClinVar
9334399250BenignMaple_syrup_urine_disease
not_specified
0.599970.61701HOM Link to ClinVar
440244433895Benignnot_specified.0.57328HET Link to ClinVar
138927142630BenignDiamond-Blackfan_anemia
not_specified
.0.55871HET Link to ClinVar
329400349040BenignAlternating_hemiplegia_of_childhood
Dystonia_12
0.637420.71945HET Link to ClinVar
329409349042Likely_benignAlternating_hemiplegia_of_childhood
Dystonia_12
0.003450.00379HET Link to ClinVar
157926167773Benign/Likely_benignAlternating_hemiplegia_of_childhood
Dystonia_12
not_specified
not_provided
.0.90156HET Link to ClinVar
769011705065Benignnot_provided..HET Link to ClinVar
769013705071Likely_benignnot_provided..HOM Link to ClinVar
769014705072Benignnot_provided..HOM Link to ClinVar
683858670042Benignnot_provided..HET Link to ClinVar
683856668887Benignnot_provided..HET Link to ClinVar
260385257139BenignEthylmalonic_encephalopathy
not_specified
not_provided
0.190660.15236HET Link to ClinVar
225976227806drug_responsePlatinum_compounds_response_-_Efficacy
cisplatin_response_-_Efficacy
oxaliplatin_response_-_Efficacy
platinum_response_-_Efficacy
carboplatin_response_-_Efficacy
0.68340.73962HET Link to ClinVar
257226257140Benignnot_specified0.045980.03494HOM Link to ClinVar
43915478BenignAUBERGER_BLOOD_GROUP_POLYMORPHISM_Au(a)/Au(b)0.275330.27037HOM Link to ClinVar
329465333754Likely_benignHermansky-Pudlak_syndrome.0.04653HET Link to ClinVar
329481349968Likely_benignHermansky-Pudlak_syndrome.0.0629HET Link to ClinVar
329487333794Likely_benignHermansky-Pudlak_syndrome.0.04653HET Link to ClinVar
134105137844BenignOsteosarcoma
Non-small_cell_lung_cancer
Xeroderma_pigmentosum
not_specified
.0.23662HET Link to ClinVar
256018257142BenignXeroderma_pigmentosum
not_specified
0.285910.18231HET Link to ClinVar
256016257143Benignnot_specified.0.63439HET Link to ClinVar
135529139268not_providednot_specified0.640190.63299HET Link to ClinVar
134117137856BenignXeroderma_pigmentosum
Xeroderma_pigmentosum,_group_D
not_specified
0.378820.19449HET Link to ClinVar
256021257148BenignXeroderma_pigmentosum
not_specified
0.589810.63618HET Link to ClinVar
256020257149Benignnot_specified0.595730.63618HET Link to ClinVar
225987227807drug_responsecisplatin_response_-_Toxicity/ADR
Platinum_compounds_response_-_Toxicity/ADR
platinum_response_-_Toxicity/ADR
0.323660.29513HET Link to ClinVar
225945227808drug_responseXeroderma_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
0.508470.66893HOM Link to ClinVar
669143670052Benignnot_provided..HOM Link to ClinVar
684130670057Benignnot_provided..HET Link to ClinVar
329553349092Likely_benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.01238HET Link to ClinVar
329556349095Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.77536HOM Link to ClinVar
329574333835Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.63798HET Link to ClinVar
329594333865Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.76098HET Link to ClinVar
329596349123Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
..HET Link to ClinVar
329609349142Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.75839HET Link to ClinVar
329610333868Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
..HET Link to ClinVar
329617333871Likely_benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.15455HET Link to ClinVar
329624349153Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.76018HET Link to ClinVar
329631333881Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
..HET Link to ClinVar
329647333893Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.75679HET Link to ClinVar
329657343865Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
..HET Link to ClinVar
329682333923Benign3-Methylglutaconic_aciduria_type_3
Optic_Atrophy,_Dominant
.0.71066HET Link to ClinVar
2170934561Benign3-Methylglutaconic_aciduria_type_3
Optic_atrophy_and_cataract,_autosomal_dominant
not_specified
Optic_Atrophy,_Dominant
not_provided
0.707590.76697HET Link to ClinVar
262913257151BenignBranchiootorenal_syndrome_2
not_specified
0.320550.29812HOM Link to ClinVar
678453669931Benignnot_provided..HET Link to ClinVar
678454670058Benignnot_provided..HET Link to ClinVar
137381141084Benignnot_specified.0.0605HET Link to ClinVar
774357705107Benignnot_provided..HET Link to ClinVar
99592105481BenignLeber_congenital_amaurosis
not_specified
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
not_provided
0.14950.08846HOM Link to ClinVar
329706343885BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
..HOM Link to ClinVar
329713343896BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.24221HOM Link to ClinVar
329714333943BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.27616HOM Link to ClinVar
329716333950Likely_benignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.06929HOM Link to ClinVar
329717349199BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.24301HOM Link to ClinVar
329730349205BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.27676HOM Link to ClinVar
329733343904Likely_benignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.06949HOM Link to ClinVar
329739350127Likely_benignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.06949HOM Link to ClinVar
329741343912BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.24321HOM Link to ClinVar
329742333976BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.57009HOM Link to ClinVar
329744349209Likely_benignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
..HOM Link to ClinVar
329748350128BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
..HOM Link to ClinVar
329753349210BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.27756HOM Link to ClinVar
329758350143BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.5641HOM Link to ClinVar
329761350150Likely_benignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.06949HOM Link to ClinVar
329765349215BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.23043HOM Link to ClinVar
329768333995BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.23023HOM Link to ClinVar
329769343926BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.23043HOM Link to ClinVar
329777349224BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.26697HOM Link to ClinVar
329779343931BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.21386HOM Link to ClinVar
329781334000BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.21386HOM Link to ClinVar
329782343933Likely_benignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.06969HOM Link to ClinVar
329783349226BenignLeber_congenital_amaurosis
Cone-Rod_Dystrophy,_Dominant
Retinitis_Pigmentosa,_Dominant
.0.21386HOM Link to ClinVar
262481257160Benignnot_specified0.216030.20308HET Link to ClinVar
262496257162Benignnot_specified0.57030.46466HOM Link to ClinVar
262490257168Benignnot_specified0.359540.32149HET Link to ClinVar
262489257169Benignnot_specified0.288680.16753HET Link to ClinVar
262485257171Benignnot_specified.0.15216HET Link to ClinVar
262486257172Benignnot_specified0.326090.30431HET Link to ClinVar
262507257179Benignnot_specified0.183020.15336HET Link to ClinVar
262504257181Benignnot_specified0.183950.15395HET Link to ClinVar
262503257182Benignnot_specified.0.16813HET Link to ClinVar
1294527984Benign,_associationSECRETOR/NONSECRETOR_POLYMORPHISM
Vitamin_b12_plasma_level_quantitative_trait_locus_1
0.389420.32169HET Link to ClinVar
156440166213BenignHyperferritinemia_cataract_syndrome
Neuroferritinopathy
Glycogen_storage_disease_0,_muscle
not_specified
sporadic_abdominal_aortic_aneurysm
not_provided
0.497910.46066HET Link to ClinVar
676132670066Benignnot_provided..HET Link to ClinVar
681676670318Benignnot_provided..HET Link to ClinVar
676131670329Benignnot_provided..HET Link to ClinVar
260834257190Benign/Likely_benignnot_specified
Progressive_familial_heart_block
0.293750.15036HET Link to ClinVar
674828669944Benignnot_provided..HOM Link to ClinVar
780580716597Benignnot_provided..HET Link to ClinVar
496316487954Benignnot_provided0.703450.73822HOM Link to ClinVar
496315487955Benignnot_provided0.70340.73822HOM Link to ClinVar
138201141904Benignnot_specified0.008690.01018HET Link to ClinVar
138200141903Benignnot_specified
not_provided
0.009570.00998HET Link to ClinVar
95476101375Conflicting_interpretations_of_pathogenicityEpileptic_encephalopathy
Early_infantile_epileptic_encephalopathy_10
not_specified
not_provided
0.007210.00539HET Link to ClinVar
159801169592Benignnot_specified
not_provided
0.033670.04133HET Link to ClinVar
667941668937Benignnot_provided..HET Link to ClinVar
95486101385Benign/Likely_benignHistory_of_neurodevelopmental_disorder
Early_infantile_epileptic_encephalopathy_10
not_specified
not_provided
.0.00659HET Link to ClinVar
129846135292Likely_benignnot_specified0.944420.97404HOM Link to ClinVar
129849135295Likely_benignnot_specified0.351750.31629HET Link to ClinVar
129848135294Likely_benignnot_specified0.791860.86042HET Link to ClinVar
129847135293Likely_benignnot_specified0.012430.02177HET Link to ClinVar
4407353241Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
not_provided
0.009710.01118HET Link to ClinVar
4407953247Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.60570.47284HOM Link to ClinVar
4404453212Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.358820.32149HET Link to ClinVar
4405153219Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
not_provided
0.040410.05112HET Link to ClinVar
4405653224Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.771940.76118HOM Link to ClinVar
4405753225Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.447970.4391HOM Link to ClinVar
4406253230Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.598040.48443HOM Link to ClinVar
4406353231Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.875680.86462HOM Link to ClinVar
4406753235Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.209660.13199HET Link to ClinVar
4407553243Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.747950.68211HET Link to ClinVar
257578257195Benignnot_specified0.749630.69449HET Link to ClinVar
226747231073Benignnot_specified
Nonsyndromic_Hearing_Loss,_Dominant
.0.7508HET Link to ClinVar
329955350291Likely_benignNonsyndromic_Hearing_Loss,_Dominant0.369050.248HET Link to ClinVar
329958349293BenignNonsyndromic_Hearing_Loss,_Dominant.0.82508HOM Link to ClinVar
380227377725BenignHereditary_cancer-predisposing_syndrome
not_specified
not_provided
0.053190.13838HET Link to ClinVar
676483670373Benignnot_provided..HOM Link to ClinVar
676546668946Benignnot_provided..HET Link to ClinVar
679796670018Benignnot_provided..HET Link to ClinVar
676550670382Benignnot_provided..HET Link to ClinVar
380228377776BenignHereditary_cancer-predisposing_syndrome
Colorectal_cancer_10
not_specified
not_provided
0.044960.11841HET Link to ClinVar
380221377792Benignnot_specified
not_provided
0.26590.28215HET Link to ClinVar
258788257197Benignnot_specified
not_provided
0.579340.40835HET Link to ClinVar
676551670026Benignnot_provided..HET Link to ClinVar
380229379661Benignnot_specified
not_provided
0.076380.10843HET Link to ClinVar
371933359002Benign/Likely_benignColorectal_cancer_10
not_specified
not_provided
0.056890.12859HET Link to ClinVar
676552670028Benignnot_provided..HET Link to ClinVar
560822551952Benignnot_specified..HET Link to ClinVar
259564257199Benignnot_specified0.996170.9984HOM Link to ClinVar
680119670032Benignnot_provided..HOM Link to ClinVar
680118670384Benignnot_provided..HOM Link to ClinVar
680111670385Benignnot_provided..HOM Link to ClinVar
9401899920BenignGlutaric_aciduria,_type_2
not_specified
not_provided
0.498030.41973HOM Link to ClinVar
680110668951Benignnot_provided..HOM Link to ClinVar
683851670041Benignnot_provided..HOM Link to ClinVar
683849670387Benignnot_provided..HOM Link to ClinVar
680108670392Benignnot_provided..HOM Link to ClinVar
680106668952Benignnot_provided..HOM Link to ClinVar
369289353518Likely_benignCortical_pulverulent_cataract.0.64397HET Link to ClinVar
773360705210Benignnot_provided..HET Link to ClinVar
402874390308Benignnot_specified0.804480.78714HOM Link to ClinVar
402877390462Benignnot_specified0.328540.35104HET Link to ClinVar
402878390432Benignnot_specified.0.39377HOM Link to ClinVar
402879390319Benignnot_specified0.805330.83407HET Link to ClinVar
403625390465Benignnot_specified..HET Link to ClinVar
769464705230Benignnot_provided..HET Link to ClinVar
769986705231Likely_benignnot_provided..HET Link to ClinVar
769988705233Likely_benignnot_provided..HET Link to ClinVar
329988350305BenignFamilial_cold_autoinflammatory_syndrome.0.42752HOM Link to ClinVar
262531257201BenignFamilial_cold_autoinflammatory_syndrome
not_specified
.0.42672HET Link to ClinVar
403242390434Benignnot_specified0.847390.80631HOM Link to ClinVar
262528257206BenignFamilial_cold_autoinflammatory_syndrome
not_specified
0.229440.25559HET Link to ClinVar
330052350336BenignFamilial_cold_autoinflammatory_syndrome.0.78135HET Link to ClinVar
130037135483BenignSpinocerebellar_ataxia_14
not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.946290.89637HOM Link to ClinVar
130036135482BenignSpinocerebellar_ataxia_14
not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
.0.32947HET Link to ClinVar
330063334232BenignSpinocerebellar_ataxia_14
Spinocerebellar_Ataxia,_Dominant
0.396690.33367HET Link to ClinVar
167537177983Benignnot_specified
Retinitis_Pigmentosa,_Dominant
.0.7532HET Link to ClinVar
97793103685not_providedHydatidiform_mole,_recurrent,_1.0.59185HET Link to ClinVar
97792103684not_providedHydatidiform_mole,_recurrent,_1.0.59265HET Link to ClinVar
97794103686not_providedHydatidiform_mole,_recurrent,_1..HET Link to ClinVar
97777103669not_providedHydatidiform_mole,_recurrent,_1.0.59265HET Link to ClinVar
97778103670not_providedHydatidiform_mole,_recurrent,_1.0.59285HET Link to ClinVar
97779103671not_providedHydatidiform_mole,_recurrent,_1.0.59285HET Link to ClinVar
97782103674not_providedHydatidiform_mole,_recurrent,_1.0.59325HET Link to ClinVar
97783103675not_providedHydatidiform_mole,_recurrent,_1.0.59325HET Link to ClinVar
97784103676not_providedHydatidiform_mole,_recurrent,_1.0.59485HET Link to ClinVar
97785103677not_providedHydatidiform_mole,_recurrent,_1.0.59265HET Link to ClinVar
97788103680not_providedHydatidiform_mole,_recurrent,_1.0.41693HET Link to ClinVar
97789103681not_providedHydatidiform_mole,_recurrent,_1.0.59265HET Link to ClinVar
97774103666not_providedHydatidiform_mole,_recurrent,_1.0.59245HET Link to ClinVar
97769103661not_providedHydatidiform_mole,_recurrent,_1.0.59066HET Link to ClinVar
97767103659not_providedHydatidiform_mole,_recurrent,_1.0.59006HET Link to ClinVar
97766103658not_providedHydatidiform_mole,_recurrent,_1.0.59006HET Link to ClinVar
330156334316Benign/Likely_benignHydatidiform_mole,_recurrent,_1
not_specified
0.58190.59006HET Link to ClinVar
330158344252Benign/Likely_benignHydatidiform_mole,_recurrent,_1
not_specified
0.581540.59045HET Link to ClinVar
97764103656not_providedHydatidiform_mole,_recurrent,_1.0.57668HET Link to ClinVar
97765103657not_providedHydatidiform_mole,_recurrent,_1.0.67292HET Link to ClinVar
97763103655not_providedHydatidiform_mole,_recurrent,_1.0.73942HET Link to ClinVar
97752103644not_providedHydatidiform_mole,_recurrent,_1.0.16134HET Link to ClinVar
97742103634not_providedHydatidiform_mole,_recurrent,_1.0.67792HOM Link to ClinVar
97738103630not_providedHydatidiform_mole,_recurrent,_1.0.41054HOM Link to ClinVar
97728103620not_providedHydatidiform_mole,_recurrent,_1.0.67851HOM Link to ClinVar
287106271343Benign/Likely_benignHydatidiform_mole,_recurrent,_1
not_specified
.0.09085HET Link to ClinVar
330172349382Benign/Likely_benignHydatidiform_mole,_recurrent,_1
not_specified
.0.18071HET Link to ClinVar
330176334358Benign/Likely_benignHydatidiform_mole,_recurrent,_1
not_specified
0.240980.28894HET Link to ClinVar
330183334365Benign/Likely_benignHydatidiform_mole,_recurrent,_1
not_specified
0.340430.35543HOM Link to ClinVar
97894103786BenignHydatidiform_mole,_recurrent,_10.42120.40555HOM Link to ClinVar
97895103787not_providedHydatidiform_mole,_recurrent,_1.0.19369HET Link to ClinVar
97896103788not_providedHydatidiform_mole,_recurrent,_1.0.18071HET Link to ClinVar
97900103792not_providedHydatidiform_mole,_recurrent,_10.052520.06929HET Link to ClinVar
718578728399Likely_benignnot_provided..HET Link to ClinVar
257416257209Benignnot_specified0.768980.72664HET Link to ClinVar
257413257212Benignnot_specified0.808320.71665HET Link to ClinVar
257411257214Benignnot_specified0.790380.71765HET Link to ClinVar
257428257216Benignnot_specified0.846710.82308HET Link to ClinVar
257427257217Benignnot_specified0.79980.72484HET Link to ClinVar
257426257218Benignnot_specified0.54250.38459HET Link to ClinVar
257424257220Benignnot_specified0.789450.71346HET Link to ClinVar
257423257221Benignnot_specified.0.74361HET Link to ClinVar
257422257222Benignnot_specified0.81390.84265HET Link to ClinVar
257421257223Benignnot_specified.0.90715HET Link to ClinVar
257419257225Benignnot_specified0.792930.73243HET Link to ClinVar
257418257226Benignnot_specified.0.84265HET Link to ClinVar
167736178100Benignnot_specified0.989160.98043HOM Link to ClinVar
3186340523Benign/Likely_benignnot_specified
Nemaline_Myopathy,_Recessive
not_provided
0.234610.0643HET Link to ClinVar
3186440524not_providednot_provided0.205730.19828HET Link to ClinVar
3185540515Benign/Likely_benignHypertrophic_cardiomyopathy
Familial_restrictive_cardiomyopathy
not_specified
Dilated_Cardiomyopathy,_Recessive
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
Nemaline_Myopathy,_Recessive
not_provided
0.831460.8101HET Link to ClinVar
3688145542Conflicting_interpretations_of_pathogenicityCardiomyopathy
Primary_ciliary_dyskinesia
Primary_familial_hypertrophic_cardiomyopathy
not_specified
Nemaline_Myopathy,_Recessive
not_provided
0.999971HOM Link to ClinVar
4336652536Benign/Likely_benignCardiomyopathy
Hypertrophic_cardiomyopathy
Primary_ciliary_dyskinesia
not_specified
Cardiovascular_phenotype
not_provided
0.046150.02276HET Link to ClinVar
369296353525Likely_benignHypertrophic_cardiomyopathy
Familial_restrictive_cardiomyopathy
Dilated_Cardiomyopathy,_Recessive
Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome
11HOM Link to ClinVar
769051705259Benignnot_provided..HET Link to ClinVar
769465705264Benignnot_provided..HET Link to ClinVar
770812705266Benignnot_provided..HET Link to ClinVar
769056705276Benignnot_provided..HOM Link to ClinVar
713237728424Likely_benignnot_provided..HET Link to ClinVar
330224344295BenignSpermatogenic_Failure.0.86761HOM Link to ClinVar
330225349406BenignSpermatogenic_Failure
not_specified
0.762470.76777HOM Link to ClinVar
769059705290Benignnot_provided..HET Link to ClinVar
769989705298Benignnot_provided..HET Link to ClinVar
286343270580Benignnot_specified0.243540.16174HET Link to ClinVar
286342270579Benignnot_specified0.253030.16154HET Link to ClinVar
402586390451Benignnot_specified..HOM Link to ClinVar
262230257429Benignnot_specified
not_provided
0.702160.65535HOM Link to ClinVar
262238257434Benignnot_specified0.431170.30871HET Link to ClinVar
262228257443Benignnot_specified..HET Link to ClinVar
337814344725BenignSpinocerebellar_Ataxia,_Dominant.0.51298HOM Link to ClinVar
337819344729BenignSpinocerebellar_Ataxia,_Dominant.0.51378HOM Link to ClinVar
337822344733Likely_benignSpinocerebellar_Ataxia,_Dominant.0.09525HET Link to ClinVar
337834334872BenignSpinocerebellar_ataxia_23
Spinocerebellar_Ataxia,_Dominant
.0.13019HET Link to ClinVar
337846350714BenignSpinocerebellar_Ataxia,_Dominant.0.628HOM Link to ClinVar
130585136031BenignSpinocerebellar_ataxia_35
not_specified
Spinocerebellar_Ataxia,_Dominant
not_provided
0.90710.878HET Link to ClinVar
337914344788BenignSpinocerebellar_ataxia_35
Spinocerebellar_Ataxia,_Dominant
0.661650.57408HOM Link to ClinVar
337920344790Likely_benignSpinocerebellar_Ataxia,_Dominant0.09170.12999HET Link to ClinVar
130584136030BenignSpinocerebellar_ataxia_35
not_specified
Spinocerebellar_Ataxia,_Dominant
0.234510.32448HET Link to ClinVar
791662779964Benignnot_provided... Link to ClinVar
337941350769BenignSpinocerebellar_Ataxia,_Dominant0.417530.51318HET Link to ClinVar
129807135253Likely_benignnot_specified.0.86122HOM Link to ClinVar
129806135252Likely_benignnot_specified0.633630.67372HOM Link to ClinVar
129808135254Likely_benignnot_specified0.309840.377HET Link to ClinVar
129809135255Likely_benignnot_specified0.293120.3774HET Link to ClinVar
338028344895BenignRetinitis_Pigmentosa,_Recessive0.686530.61302HOM Link to ClinVar
771047705420Benignnot_provided..HET Link to ClinVar
1474729786drug_responseazathioprine_response_-_Toxicity/ADR
Inosine_triphosphatase_deficiency
peginterferon_alfa-2b_and_ribavirin_response_-_Toxicity/ADR
0.088630.05911HET Link to ClinVar
261999257339Benign/Likely_benignnot_specified
Corneal_Dystrophy,_Recessive
.0.15915HET Link to ClinVar
261998257340Benignnot_specified0.447680.49421HET Link to ClinVar
261997257341Benign/Likely_benignnot_specified
Corneal_Dystrophy,_Recessive
0.09160.04852HET Link to ClinVar
261996257342Benign/Likely_benignnot_specified
Corneal_Dystrophy,_Recessive
0.085130.04513HET Link to ClinVar
261994257343Benign/Likely_benignnot_specified
Corneal_Dystrophy,_Recessive
.0.04792HET Link to ClinVar
262002257345Benign/Likely_benignnot_specified
Corneal_Dystrophy,_Recessive
0.15740.16633HET Link to ClinVar
262001257346Benign/Likely_benignnot_specified
Corneal_Dystrophy,_Recessive
.0.47983HET Link to ClinVar
338263344973Likely_benignCorneal_Dystrophy,_Recessive.0.45028HET Link to ClinVar
193506190670BenignPigmentary_pallidal_degeneration
not_specified
not_provided
0.121720.08686HET Link to ClinVar
96526102420BenignPigmentary_pallidal_degeneration
not_specified
not_provided
.0.87919HET Link to ClinVar
1339728436BenignAlzheimer_disease,_early-onset,_susceptibility_to
Aphasia,_primary_progressive,_susceptibility_to
Prion_disease,_susceptibility_to
Genetic_prion_diseases
Huntington_disease-like_1
not_specified
0.307780.26657HET Link to ClinVar
338858345515BenignHypogonadism_with_anosmia
Kallmann_syndrome_3
not_provided
0.743520.72324HOM Link to ClinVar
338859345516BenignHypogonadism_with_anosmia
Kallmann_syndrome_3
not_provided
0.398020.44649HOM Link to ClinVar
339170351325Uncertain_significanceKindler's_syndrome..HET Link to ClinVar
339178351333BenignKindler's_syndrome.1HOM Link to ClinVar
260868257380BenignKindler's_syndrome
not_specified
0.36830.39577HET Link to ClinVar
339209336173BenignKindler's_syndrome0.102360.11641HET Link to ClinVar
339213345924Uncertain_significanceKindler's_syndrome..HET Link to ClinVar
339224350337Likely_benignKindler's_syndrome0.070910.05112HOM Link to ClinVar
339230351350Likely_benignKindler's_syndrome0.083180.08307HOM Link to ClinVar
339234351354Likely_benignKindler's_syndrome0.084810.08826HOM Link to ClinVar
260864257384BenignKindler's_syndrome
not_specified
0.524280.52456HOM Link to ClinVar
260863257385BenignKindler's_syndrome
not_specified
0.635580.70847HOM Link to ClinVar
339257350349BenignKindler's_syndrome.0.42692HET Link to ClinVar
339259336223BenignKindler's_syndrome.0.70407HOM Link to ClinVar
195136192297Benignnot_specified0.672310.74601HET Link to ClinVar
196322193483BenignSHORT_STATURE,_FACIAL_DYSMORPHISM,_AND_SKELETAL_ANOMALIES_WITH_OR_WITHOUT_CARDIAC_ANOMALIES
not_specified
0.674320.76677HET Link to ClinVar
126883132395associationCalcium_oxalate_urolithiasis.0.32528HET Link to ClinVar
126886132398associationCalcium_oxalate_urolithiasis.0.3105HET Link to ClinVar
126888132400associationCalcium_oxalate_urolithiasis.0.30391HET Link to ClinVar
126889132401associationCalcium_oxalate_urolithiasis.0.29912HET Link to ClinVar
129899135345Benign/Likely_benignSeizures
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
0.168530.1871HET Link to ClinVar
129901135347Benign/Likely_benignSeizures
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided
0.121640.13498HET Link to ClinVar
129908135354Benign/Likely_benignSeizures
Early_infantile_epileptic_encephalopathy_12
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided
0.271770.21226HET Link to ClinVar
129910135356BenignSeizures
Early_infantile_epileptic_encephalopathy_12
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided
0.61550.61322HET Link to ClinVar
129912135358BenignEarly_infantile_epileptic_encephalopathy_12
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided
0.940790.89697HOM Link to ClinVar
129914135360BenignSeizures
Early_infantile_epileptic_encephalopathy_12
not_specified
Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive
not_provided
0.296950.22863HET Link to ClinVar
339539350478BenignEarly_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive.0.80451HOM Link to ClinVar
339540351533BenignEarly_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive.0.60943HOM Link to ClinVar
339544351538Likely_benignEarly_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive..HET Link to ClinVar
339548336462BenignEarly_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive.0.53594HOM Link to ClinVar
339552350485BenignAuriculocondylar_syndrome_2
Auriculocondylar_syndrome
0.596540.47145HOM Link to ClinVar
542731533432Benignnot_provided.0.4978HET Link to ClinVar
261060257305Benignnot_specified.0.26538HET Link to ClinVar
337715344656BenignArteriohepatic_dysplasia
Isolated_Nonsyndromic_Congenital_Heart_Disease
.0.47424HET Link to ClinVar
337723344672BenignArteriohepatic_dysplasia
Isolated_Nonsyndromic_Congenital_Heart_Disease
.0.22165HET Link to ClinVar
337729349651BenignArteriohepatic_dysplasia
Isolated_Nonsyndromic_Congenital_Heart_Disease
..HET Link to ClinVar
337735344686BenignArteriohepatic_dysplasia
Isolated_Nonsyndromic_Congenital_Heart_Disease
..HET Link to ClinVar
4247851648BenignArteriohepatic_dysplasia
not_specified
Cardiovascular_phenotype
Isolated_Nonsyndromic_Congenital_Heart_Disease
0.238290.18011HET Link to ClinVar
137595141298BenignArteriohepatic_dysplasia
not_specified
Cardiovascular_phenotype
Isolated_Nonsyndromic_Congenital_Heart_Disease
0.659190.71266HET Link to ClinVar
255555257308Benignnot_specified..HET Link to ClinVar
143063152781BenignArteriohepatic_dysplasia
not_specified
Cardiovascular_phenotype
Isolated_Nonsyndromic_Congenital_Heart_Disease
not_provided
0.454080.42332HET Link to ClinVar
213524210341BenignArteriohepatic_dysplasia
not_specified
Isolated_Nonsyndromic_Congenital_Heart_Disease
0.437540.45767HET Link to ClinVar
536536534015Likely_benignAlagille_syndrome_1.0.51378HET Link to ClinVar
683425670439Benignnot_provided..HET Link to ClinVar
669468670197Benignnot_provided..HET Link to ClinVar
129694135140Benignnot_specified
not_provided
0.01890.01058HET Link to ClinVar
683429669030Benignnot_provided..HOM Link to ClinVar
257616257325Benignnot_specified
not_provided
0.246290.20587HET Link to ClinVar
257615257326Benignnot_specified
not_provided
.0.7506HOM Link to ClinVar
257617257329Benignnot_specified
not_provided
0.05640.02256HET Link to ClinVar
380041379676Benignnot_specified
not_provided
0.104070.08526HET Link to ClinVar
684256670201Benignnot_provided..HOM Link to ClinVar
262249257331Benignnot_specified
not_provided
.0.3119HET Link to ClinVar
684258670141Benignnot_provided..HET Link to ClinVar
337781350687BenignCongenital_dyserythropoietic_anemia.0.77197HOM Link to ClinVar
95379101278BenignCongenital_dyserythropoietic_anemia
not_specified
0.974730.91633HOM Link to ClinVar
683996669034Benignnot_provided..HET Link to ClinVar
679115669036Benignnot_provided..HET Link to ClinVar
384713377963Likely_benignnot_specified0.014490.00459HET Link to ClinVar
337852334892BenignAtypical_hemolytic_uremic_syndrome.0.77596HOM Link to ClinVar
337862344766BenignAtypical_hemolytic_uremic_syndrome.0.16713HET Link to ClinVar
337864334901BenignAtypical_hemolytic_uremic_syndrome.0.30212HET Link to ClinVar
337883334922BenignAtypical_hemolytic_uremic_syndrome0.199690.16454HET Link to ClinVar
1271827757Conflicting_interpretations_of_pathogenicityAtypical_hemolytic-uremic_syndrome_6
Atypical_hemolytic_uremic_syndrome
not_provided
0.003430.0028HET Link to ClinVar
563520674Conflicting_interpretations_of_pathogenicityAge-related_macular_degeneration_110.254890.21226HET Link to ClinVar
402569390477Benignnot_specified.0.21166HET Link to ClinVar
337948349766Likely_benignPosterior_Polymorphous_Corneal_Dystrophy.0.02216HET Link to ClinVar
337984350785Likely_benignPolyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract.0.10383HET Link to ClinVar
128255133704BenignPolyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract
not_specified
0.469640.33606HOM Link to ClinVar
337999335074BenignPolyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract
not_provided
..HOM Link to ClinVar
338004349784BenignPolyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract.0.45627HOM Link to ClinVar
138405142108Benign/Likely_benignHypertrophic_cardiomyopathy
not_specified
.0.05391HET Link to ClinVar
678521670158Benignnot_provided..HET Link to ClinVar
3665445316BenignCardiomyopathy
Familial_hypertrophic_cardiomyopathy_1
not_specified
0.011370.00599HET Link to ClinVar
191741190018Uncertain_significanceFamilial_hypertrophic_cardiomyopathy_1
not_provided
2e-05.HET Link to ClinVar
683580656627Benignnot_provided..HOM Link to ClinVar
133599137338not_providednot_specified0.999981HOM Link to ClinVar
338113349835BenignC-like_syndrome
not_specified
0.418330.40575HET Link to ClinVar
338120345017BenignC-like_syndrome0.406510.39996HET Link to ClinVar
338123345023BenignC-like_syndrome.0.39976HET Link to ClinVar
338126335208BenignC-like_syndrome.0.42891HET Link to ClinVar
338165345058BenignImmunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified
0.483560.58486HOM Link to ClinVar
338170345062BenignImmunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified
0.580580.75579HOM Link to ClinVar
338171335243BenignImmunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified
0.579220.75579HOM Link to ClinVar
338175335245BenignImmunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified
.0.71406HOM Link to ClinVar
338180349870BenignImmunodeficiency-centromeric_instability-facial_anomalies_syndrome_1
not_specified
0.573720.74261HOM Link to ClinVar
338197350898BenignImmunodeficiency-centromeric_instability-facial_anomalies_syndrome_1.0.80471HOM Link to ClinVar
338201345089BenignImmunodeficiency-centromeric_instability-facial_anomalies_syndrome_1..HOM Link to ClinVar
670951670166Benignnot_provided..HOM Link to ClinVar
683867669066Benignnot_provided..HOM Link to ClinVar
338286349903BenignHypermethioninemia.0.67712HOM Link to ClinVar
255474257352Benignnot_specified
not_provided
.0.66434HET Link to ClinVar
510873507152Benignnot_specified0.432460.39677HET Link to ClinVar
256716257356BenignBrachydactyly
Acromesomelic_Dysplasia
Symphalangism-brachydactyly_syndrome
Chondrodysplasia
Fibular_hypoplasia_and_complex_brachydactyly
not_specified
.0.38399HET Link to ClinVar
256712257358BenignBrachydactyly
Acromesomelic_Dysplasia
Symphalangism-brachydactyly_syndrome
Chondrodysplasia
Fibular_hypoplasia_and_complex_brachydactyly
not_specified
0.474350.5611HET Link to ClinVar
839023429BenignBrachydactyly
Osteoarthritis_of_hip
Acromesomelic_Dysplasia
Symphalangism-brachydactyly_syndrome
Chondrodysplasia
Fibular_hypoplasia_and_complex_brachydactyly
.0.54653HET Link to ClinVar
671453669101Benignnot_provided..HET Link to ClinVar
708475728625Benignnot_provided..HET Link to ClinVar
683687656633Benignnot_provided..HOM Link to ClinVar
770815778680Likely_benignnot_provided..HET Link to ClinVar
402430390390Benignnot_specified0.506180.43131HET Link to ClinVar
402431390456Benignnot_specified0.507620.4347HET Link to ClinVar
402433390457Benignnot_specified0.057290.05132HET Link to ClinVar
402434390480Benignnot_specified0.462370.4351HET Link to ClinVar
338393335418BenignMulticentric_osteolysis_nephropathy..HET Link to ClinVar
775648705487Benignnot_provided..HET Link to ClinVar
775649778598Benignnot_provided..HET Link to ClinVar
775650705488Benignnot_provided..HET Link to ClinVar
683545669103Benignnot_provided..HET Link to ClinVar
671113669121Benignnot_provided..HET Link to ClinVar
137602141305BenignFamilial_hypertrophic_cardiomyopathy_17
not_specified
Cardiovascular_phenotype
not_provided
0.844950.85423HET Link to ClinVar
676906670492Benignnot_provided..HET Link to ClinVar
676907670262Benignnot_provided..HET Link to ClinVar
676908670209Benignnot_provided..HET Link to ClinVar
674363670264Benignnot_provided..HET Link to ClinVar
674364670271Benignnot_provided..HET Link to ClinVar
676879669133Benignnot_provided..HOM Link to ClinVar
676881670495Benignnot_provided..HOM Link to ClinVar
676882670274Benignnot_provided..HOM Link to ClinVar
676884669135Benignnot_provided..HOM Link to ClinVar
676886670497Benignnot_provided..HOM Link to ClinVar
338448335470Likely_benignMaturity_onset_diabetes_mellitus_in_young
Hyperinsulinism,_Dominant
.0.57129HOM Link to ClinVar
402340390343Benignnot_specified0.995540.98223HOM Link to ClinVar
444117437771BenignDiabetes_mellitus_type_2.0.16154HET Link to ClinVar
444116437780BenignDiabetes_mellitus_type_2.0.2486HET Link to ClinVar
444120437781BenignDiabetes_mellitus_type_2.0.41733HOM Link to ClinVar
444112437782BenignDiabetes_mellitus_type_2..HET Link to ClinVar
444106437783BenignDiabetes_mellitus_type_2.0.29593HET Link to ClinVar
444111437784BenignDiabetes_mellitus_type_2.0.80371HOM Link to ClinVar
444113437785BenignDiabetes_mellitus_type_2.0.49501HET Link to ClinVar
338513351036BenignCombined_deficiency_of_sialidase_AND_beta_galactosidase0.582370.38419HET Link to ClinVar
338520351042Likely_benignCombined_deficiency_of_sialidase_AND_beta_galactosidase.0.01558HET Link to ClinVar
683633670283Benignnot_provided..HET Link to ClinVar
683634670506Benignnot_provided..HET Link to ClinVar
558867549810Benignnot_provided..HET Link to ClinVar
338535345347BenignCombined_deficiency_of_sialidase_AND_beta_galactosidase
not_specified
not_provided
0.660180.67832HET Link to ClinVar
338538351057BenignCombined_deficiency_of_sialidase_AND_beta_galactosidase
not_specified
not_provided
0.660760.67991HET Link to ClinVar
671990670285Benignnot_provided..HET Link to ClinVar
1363428673associationHigh_density_lipoprotein_cholesterol_level_quantitative_trait_locus_9.0.3143HET Link to ClinVar
130810136255Likely_benignnot_specified0.84930.77776HOM Link to ClinVar
130807136252Benignnot_specified0.331290.1857HET Link to ClinVar
130795136240Likely_benignnot_specified0.893840.85982HOM Link to ClinVar
338546350025Likely_benignMetaphyseal_anadysplasia0.034960.03275HET Link to ClinVar
338554351068BenignMetaphyseal_anadysplasia0.436080.26058HET Link to ClinVar
282093266330BenignMetaphyseal_anadysplasia
Metaphyseal_anadysplasia_2
not_specified
.0.83027HOM Link to ClinVar
285363269600BenignMetaphyseal_anadysplasia
not_specified
0.470760.40595HOM Link to ClinVar
338562350030BenignMetaphyseal_anadysplasia0.43290.25938HET Link to ClinVar
338563345359BenignMetaphyseal_anadysplasia.0.16374HET Link to ClinVar
475656470904BenignEarly_infantile_epileptic_encephalopathy_340.035320.03215HET Link to ClinVar
475658470416BenignEarly_infantile_epileptic_encephalopathy_340.035610.03315HET Link to ClinVar
475640469378BenignEarly_infantile_epileptic_encephalopathy_340.035150.03295HET Link to ClinVar
475644471417BenignEarly_infantile_epileptic_encephalopathy_340.04540.03095HET Link to ClinVar
338569350035BenignImmunodeficiency_with_hyper_IgM_type_3
not_specified
Immunodeficiency_with_Hyper-IgM
0.752730.77117HET Link to ClinVar
338576335608Benign/Likely_benignImmunodeficiency_with_hyper_IgM_type_3
not_specified
Immunodeficiency_with_Hyper-IgM
0.017060.01597HET Link to ClinVar
338624351090Uncertain_significanceArterial_tortuosity_syndrome.0.00379HET Link to ClinVar
667995670247Benignnot_provided..HOM Link to ClinVar
261263257369Benignnot_specified
SALL4-Related_Spectrum_Disorders
.0.04972HET Link to ClinVar
261260257372Benignnot_specified
SALL4-Related_Spectrum_Disorders
0.357830.38199HET Link to ClinVar
261259257373BenignDuane-radial_ray_syndrome
not_specified
SALL4-Related_Spectrum_Disorders
.0.35883HET Link to ClinVar
261258257374Benignnot_specified
SALL4-Related_Spectrum_Disorders
0.252250.20927HET Link to ClinVar
261264257377Benignnot_specified
SALL4-Related_Spectrum_Disorders
0.996510.9974HOM Link to ClinVar
338789351180BenignInfantile_hypercalcemia.0.61062HOM Link to ClinVar
338797335826BenignInfantile_hypercalcemia.0.21665HOM Link to ClinVar
338810351190BenignInfantile_hypercalcemia.0.1887HOM Link to ClinVar
338831350152BenignInfantile_hypercalcemia
Idiopathic_hypercalcemia_of_infancy
not_specified
0.492360.45807HOM Link to ClinVar
667564670253Benignnot_provided..HOM Link to ClinVar
667563669189Benignnot_provided..HOM Link to ClinVar
338868345596BenignPhosphoenolpyruvate_carboxykinase_(GTP)_deficiency.0.39697HOM Link to ClinVar
338875351214BenignPhosphoenolpyruvate_carboxykinase_(GTP)_deficiency0.378830.29513HOM Link to ClinVar
338876351217BenignPhosphoenolpyruvate_carboxykinase_(GTP)_deficiency0.41110.3133HOM Link to ClinVar
338877335894BenignPhosphoenolpyruvate_carboxykinase_(GTP)_deficiency0.414470.3141HOM Link to ClinVar
338879351218BenignPhosphoenolpyruvate_carboxykinase_(GTP)_deficiency
Phosphoenolpyruvate_carboxykinase_deficiency,_cytosolic
0.846260.84605HOM Link to ClinVar
338882345601Likely_benignPhosphoenolpyruvate_carboxykinase_(GTP)_deficiency0.092570.05771HET Link to ClinVar
338889345602BenignPhosphoenolpyruvate_carboxykinase_(GTP)_deficiency
Phosphoenolpyruvate_carboxykinase_deficiency,_cytosolic
0.754740.78694HET Link to ClinVar
338898351230BenignPhosphoenolpyruvate_carboxykinase_(GTP)_deficiency.0.42432HOM Link to ClinVar
259537257378Benignnot_specified0.416750.41693HET Link to ClinVar
338947335929BenignAmyotrophic_Lateral_Sclerosis,_Dominant
Spinal_Muscular_Atrophy,_Dominant
0.2220.18031HET Link to ClinVar
338974350203BenignAmyotrophic_Lateral_Sclerosis,_Dominant
Spinal_Muscular_Atrophy,_Dominant
..HOM Link to ClinVar
339005350221BenignAmyotrophic_Lateral_Sclerosis,_Dominant
Spinal_Muscular_Atrophy,_Dominant
0.427190.48323HET Link to ClinVar
339006350223BenignAmyotrophic_Lateral_Sclerosis,_Dominant
Spinal_Muscular_Atrophy,_Dominant
0.254690.20907HET Link to ClinVar
339050336021BenignPseudohypoaldosteronism_type_1_autosomal_dominant0.502070.47444HET Link to ClinVar
339081345794BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.53934HET Link to ClinVar
339087350266BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.20447HET Link to ClinVar
339089351305BenignPseudohypoaldosteronism_type_1_autosomal_dominant.0.39297HET Link to ClinVar
197681194842Benignnot_specified0.547330.64437HET Link to ClinVar
136462140165Benignnot_specified0.003310.001HET Link to ClinVar
506081497338Benignnot_specified0.468350.42472HOM Link to ClinVar
258413257414Benignnot_specified0.188820.22304HET Link to ClinVar
258415257416BenignMultiple_Epiphyseal_Dysplasia,_Dominant
not_specified
0.919830.93331HET Link to ClinVar
258417257418BenignMultiple_Epiphyseal_Dysplasia,_Dominant
not_specified
0.686950.70986HET Link to ClinVar
339318346001BenignMultiple_Epiphyseal_Dysplasia,_Dominant.0.24561HOM Link to ClinVar
339320351403BenignMultiple_Epiphyseal_Dysplasia,_Dominant.0.24301HOM Link to ClinVar
668093670560Benignnot_provided..HOM Link to ClinVar
9342899335BenignSeizures
Nicotine_addiction,_protection_against
not_specified
not_provided
0.474980.35184HOM Link to ClinVar
9342799334BenignSeizures
Nicotine_addiction,_protection_against
not_specified
not_provided
.0.32348HOM Link to ClinVar
9342599332BenignSeizures
Epilepsy,_nocturnal_frontal_lobe,_type_1
not_specified
0.935750.87081HOM Link to ClinVar
9342499331BenignSeizures
Epilepsy,_nocturnal_frontal_lobe,_type_1
not_specified
.0.73383HOM Link to ClinVar
128750134199BenignSeizures
not_specified
not_provided
0.919550.86362HOM Link to ClinVar
128749134198BenignSeizures
not_specified
not_provided
0.835280.75719HOM Link to ClinVar
668092670287Benignnot_provided..HOM Link to ClinVar
670759670577Benignnot_provided..HOM Link to ClinVar
679895669204Benignnot_provided..HOM Link to ClinVar
679894670584Benignnot_provided..HOM Link to ClinVar
2177934631BenignSeizures
Benign_familial_neonatal_seizures_1
KCNQ2-Related_Disorders
not_specified
not_provided
0.637240.59045HET Link to ClinVar
498785490209Benignnot_specified..HET Link to ClinVar
675061669223Benignnot_provided..HET Link to ClinVar
682049670375Benignnot_provided..HET Link to ClinVar
682047669227Benignnot_provided..HET Link to ClinVar
682046670315Benignnot_provided..HET Link to ClinVar
682045670376Benignnot_provided..HET Link to ClinVar
670764670390Benignnot_provided..HET Link to ClinVar
683726670322Benignnot_provided..HET Link to ClinVar
668925669249Benignnot_provided..HET Link to ClinVar
680018670338Benignnot_provided..HET Link to ClinVar
680017670597Benignnot_provided..HET Link to ClinVar
379689379761BenignSeizures
not_specified
not_provided
0.570980.59165HET Link to ClinVar
380779378443BenignSeizures
not_specified
not_provided
0.135380.14018HET Link to ClinVar
668129669259Benignnot_provided..HET Link to ClinVar
680009670349Benignnot_provided..HET Link to ClinVar
496489488061Benignnot_provided0.249110.29373HET Link to ClinVar
496488487850Benignnot_provided0.664820.61162HOM Link to ClinVar
403398390347Benignnot_specified
not_provided
0.748630.71825HOM Link to ClinVar
403400390350Benignnot_specified
not_provided
0.741080.69609HOM Link to ClinVar
403401390482Benignnot_specified
not_provided
0.765290.71805HOM Link to ClinVar
403402390459Benignnot_specified
not_provided
0.754730.73682HOM Link to ClinVar
403404390461BenignDyskeratosis_congenita,_autosomal_recessive,_5
not_specified
0.93840.96546HOM Link to ClinVar
375482362292associationChronic_osteomyelitis0.175040.26518HET Link to ClinVar
679297669275Benignnot_provided..HOM Link to ClinVar
339415351455BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive.0.27616HET Link to ClinVar
770004778592Benignnot_provided... Link to ClinVar
339463351479Likely_benignRetinitis_Pigmentosa,_Dominant0.207440.09485HET Link to ClinVar
339483336423Likely_benignRetinitis_Pigmentosa,_Dominant0.131830.15855HET Link to ClinVar
339492350449Likely_benignRetinitis_Pigmentosa,_Dominant0.13320.07268HET Link to ClinVar
774533705627Benignnot_provided..HET Link to ClinVar
782067717163Benignnot_provided..HET Link to ClinVar
586762577888Benignnot_provided..HET Link to ClinVar
586760577890Benignnot_provided0.288480.29133HET Link to ClinVar
586758577892Benignnot_provided0.293390.30411HET Link to ClinVar
728822327risk_factorHepatitis_b_virus,_susceptibility_to0.105390.11861HET Link to ClinVar
775442705659Benignnot_provided..HET Link to ClinVar
402970390483Benignnot_specified0.430070.4353HET Link to ClinVar
339698351592BenignInflammatory_bowel_disease0.636160.56849HET Link to ClinVar
339709346315BenignInflammatory_bowel_disease.0.5651HET Link to ClinVar
402963390403Benignnot_specified0.764220.84225HOM Link to ClinVar
339716346324Likely_benignLong_QT_syndrome
Romano-Ward_syndrome
Familial_atrial_fibrillation
.0.10663HET Link to ClinVar
339721336618BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
.0.67612HET Link to ClinVar
339722346327BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
.0.45128HET Link to ClinVar
339732351613BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
.1HOM Link to ClinVar
339746336627BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
..HOM Link to ClinVar
339751336636BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
.0.49361HET Link to ClinVar
339764336663BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
.0.44808HET Link to ClinVar
339769346347BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
.0.41214HET Link to ClinVar
132651136399BenignLong_QT_syndrome
Jervell_and_Lange-Nielsen_syndrome
Romano-Ward_syndrome
Hearing_loss,_noise-induced,_susceptibility_to
not_specified
Cardiovascular_phenotype
not_provided
0.647710.67392HET Link to ClinVar
671896670353Benignnot_provided..HET Link to ClinVar
675606669293Benignnot_provided..HET Link to ClinVar
137976141679Benignnot_specified.0.99381HOM Link to ClinVar
258180257452BenignFamilial_platelet_disorder_with_associated_myeloid_malignancy
not_specified
0.600310.37061HOM Link to ClinVar
258186257457BenignFamilial_platelet_disorder_with_associated_myeloid_malignancy
not_specified
11HOM Link to ClinVar
4408853256Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.168240.13538HET Link to ClinVar
4408453252Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.216090.1901HET Link to ClinVar
339915350652BenignHolocarboxylase_synthetase_deficiency.0.35244HET Link to ClinVar
256033257460Likely_benignHolocarboxylase_synthetase_deficiency
not_specified
0.027750.02356HET Link to ClinVar
676139670612Benignnot_provided..HET Link to ClinVar
256035257461Benignnot_specified
not_provided
.0.38299HET Link to ClinVar
256034257463Benignnot_specified0.563250.6276HET Link to ClinVar
9291598822Benign/Likely_benignHolocarboxylase_synthetase_deficiency
not_specified
..HET Link to ClinVar
256037257464Benignnot_specified0.58630.5597HET Link to ClinVar
680600670360Benignnot_provided..HET Link to ClinVar
137552141255BenignHolocarboxylase_synthetase_deficiency
not_specified
.0.26098HET Link to ClinVar
339982351758BenignHolocarboxylase_synthetase_deficiency.0.25499HET Link to ClinVar
679843670422Benignnot_provided..HET Link to ClinVar
204008200401PathogenicInborn_genetic_diseases
Mental_retardation,_autosomal_dominant_7
..HET Link to ClinVar
681326670625Benignnot_provided..HET Link to ClinVar
679364670431Benignnot_provided..HET Link to ClinVar
668911670629Benignnot_provided..HET Link to ClinVar
339990350694BenignPopliteal_pterygium_syndrome.0.41733HOM Link to ClinVar
339992346491BenignPopliteal_pterygium_syndrome.0.43171HOM Link to ClinVar
339999350704BenignPopliteal_pterygium_syndrome.0.4379HOM Link to ClinVar
340006351774BenignPopliteal_pterygium_syndrome.0.76917HOM Link to ClinVar
261351257465BenignPopliteal_pterygium_syndrome
not_specified
0.453120.44549HOM Link to ClinVar
261350257466BenignPopliteal_pterygium_syndrome
not_specified
0.965190.95687HOM Link to ClinVar
261349257467BenignPopliteal_pterygium_syndrome
not_specified
0.601980.53095HOM Link to ClinVar
261348257468BenignPopliteal_pterygium_syndrome
not_specified
0.443370.4401HOM Link to ClinVar
261347257469BenignPopliteal_pterygium_syndrome
not_specified
0.451740.4401HOM Link to ClinVar
261346257470BenignPopliteal_pterygium_syndrome
not_specified
0.412580.38419HOM Link to ClinVar
4608955254Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.23580.26897HET Link to ClinVar
4612955294Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.162680.24121HOM Link to ClinVar
4612155286Benign/Likely_benignnot_specified
Nonsyndromic_Hearing_Loss,_Recessive
0.487730.61841HOM Link to ClinVar
672235669323Benignnot_provided..HET Link to ClinVar
683312670378Benignnot_provided..HET Link to ClinVar
668732669335Benignnot_provided..HET Link to ClinVar
678456670447Benignnot_provided..HET Link to ClinVar
256010257472BenignCongenital_cataract
not_specified
not_provided
0.54040.5HET Link to ClinVar
340112336903Likely_benignCongenital_cataract.0.10663HET Link to ClinVar
586586577895BenignSeizures
not_provided
0.800050.72544HOM Link to ClinVar
586585577896BenignSeizures
Epileptic_encephalopathy,_early_infantile,_30
not_provided
0.890010.83067HOM Link to ClinVar
586588577899BenignSeizures
not_provided
0.281270.16653HET Link to ClinVar
495855487965Benign/Likely_benignnot_provided0.00221.HET Link to ClinVar
128338133787Benignnot_specified0.207990.13319HOM Link to ClinVar
803633792010BenignPolyglandular_autoimmune_syndrome,_type_1..HOM Link to ClinVar
128336133785Benignnot_specified0.377990.35623HET Link to ClinVar
128337133786Benignnot_specified0.461070.53035HOM Link to ClinVar
340134351837Likely_benignLeukocyte_adhesion_deficiency.0.15835HET Link to ClinVar
100752106617not_providedLeukocyte_adhesion_deficiency_type_1.0.19429HET Link to ClinVar
340155346638BenignLeukocyte_adhesion_deficiency
not_specified
0.688830.76298HOM Link to ClinVar
100746106611BenignLeukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1
not_specified
0.230670.19908HET Link to ClinVar
100745106610BenignLeukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1
0.999941HOM Link to ClinVar
100765106630not_providedLeukocyte_adhesion_deficiency_type_10.235050.20727HET Link to ClinVar
100761106626BenignLeukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1
not_specified
0.242850.22304HET Link to ClinVar
100756106621Likely_benignLeukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1
.0.13918HET Link to ClinVar
340172350811Benign/Likely_benignLeukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1
0.023430.04712HET Link to ClinVar
377981378485Benignnot_specified0.074610.10883HET Link to ClinVar
803634792011BenignLeukocyte_adhesion_deficiency_type_1..HOM Link to ClinVar
100753106618BenignLeukocyte_adhesion_deficiency
Leukocyte_adhesion_deficiency_type_1
0.22850.21306HET Link to ClinVar
518320508935BenignKnobloch_syndrome_1
not_provided
0.97050.98842HET Link to ClinVar
261919257481Benignnot_specified0.343740.3756HET Link to ClinVar
261885257482Benignnot_specified0.200540.248HET Link to ClinVar
340214351873Likely_benignKnobloch_syndrome_1..HET Link to ClinVar
261890257487Benignnot_specified.0.17053HET Link to ClinVar
261892257489Benignnot_specified0.226480.20827HET Link to ClinVar
261895257492BenignKnobloch_syndrome_1
not_specified
.0.31989HET Link to ClinVar
803635792012BenignKnobloch_syndrome_1..HOM Link to ClinVar
340240336991Likely_benignKnobloch_syndrome_10.027190.01198HET Link to ClinVar
157588167450Uncertain_significanceGastrointestinal_stroma_tumor0.576970.48862HET Link to ClinVar
671107670465Benignnot_provided..HOM Link to ClinVar
9387399775BenignCollagen_VI-related_myopathy
not_specified
0.864430.88039HOM Link to ClinVar
9387699778Benignnot_specified0.184680.11242HOM Link to ClinVar
9387999781BenignCollagen_VI-related_myopathy
not_specified
0.72150.69589HOM Link to ClinVar
679177670412Benignnot_provided..HOM Link to ClinVar
679178670417Benignnot_provided..HOM Link to ClinVar
9389199793Benignnot_specified0.861820.8768HOM Link to ClinVar
9389799799BenignCollagen_VI-related_myopathy
not_specified
0.182460.09405HOM Link to ClinVar
9379399695Benignnot_specified..HET Link to ClinVar
9380099702Benignnot_specified.0.0022HET Link to ClinVar
679180670469Benignnot_provided..HOM Link to ClinVar
9380599707BenignBethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified
0.531470.54493HOM Link to ClinVar
680311669369Benignnot_provided..HOM Link to ClinVar
9381199713Benignnot_specified
not_provided
0.858920.87141HOM Link to ClinVar
679939670667Benignnot_provided..HOM Link to ClinVar
679940669370Benignnot_provided..HET Link to ClinVar
9381399715Benignnot_specified
not_provided
0.537540.51158HET Link to ClinVar
9381599717Benignnot_specified.0.61002HET Link to ClinVar
9381699718Benignnot_specified..HOM Link to ClinVar
9381799719Benignnot_specified
not_provided
0.341210.28714HET Link to ClinVar
9382299724Benignnot_specified
not_provided
.0.88339HOM Link to ClinVar
680314670423Benignnot_provided..HET Link to ClinVar
679945669373Benignnot_provided..HOM Link to ClinVar
9382699728Benignnot_specified
not_provided
.0.28934HET Link to ClinVar
679948670668Benignnot_provided..HET Link to ClinVar
679947670669Benignnot_provided..HOM Link to ClinVar
679949670671Benignnot_provided..HOM Link to ClinVar
679185669397Benignnot_provided..HOM Link to ClinVar
679186670680Benignnot_provided..HET Link to ClinVar
9383199733Benignnot_specified
not_provided
0.283870.26597HET Link to ClinVar
9383299734Benignnot_specified
not_provided
.0.83027HOM Link to ClinVar
9383499736Benignnot_specified
not_provided
.0.55951HET Link to ClinVar
9383599737Benignnot_specified
not_provided
.0.86741HOM Link to ClinVar
679192669411Benignnot_provided..HOM Link to ClinVar
679195669417Benignnot_provided..HOM Link to ClinVar
9385099752Benignnot_specified
not_provided
0.562020.55132HET Link to ClinVar
679201670685Benignnot_provided..HOM Link to ClinVar
9386199763BenignBethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified
0.288830.27017HET Link to ClinVar
9386499766BenignBethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified
0.285930.26817HET Link to ClinVar
9386599767BenignBethlem_myopathy_1
Ullrich_congenital_muscular_dystrophy_1
Collagen_VI-related_myopathy
not_specified
0.16260.10883HET Link to ClinVar
9387099772BenignCollagen_VI-related_myopathy
not_specified
0.271490.26418HET Link to ClinVar
340342350905BenignCollagen_VI-related_myopathy.0.88199HOM Link to ClinVar
679204670436Benignnot_provided..HET Link to ClinVar
9395599857BenignMyosclerosis
Collagen_VI-related_myopathy
not_specified
not_provided
.0.09505HET Link to ClinVar
679205670443Benignnot_provided..HET Link to ClinVar
679207670444Benignnot_provided..HET Link to ClinVar
9396399865Benignnot_specified0.492150.39756HET Link to ClinVar
9390099802Benignnot_specified
not_provided
0.53090.45148HET Link to ClinVar
679212670455Benignnot_provided..HET Link to ClinVar
679213670458Benignnot_provided..HET Link to ClinVar
679206669446Benignnot_provided..HOM Link to ClinVar
9390399805BenignMyosclerosis
Collagen_VI-related_myopathy
not_specified
.0.70527HOM Link to ClinVar
9390599807Benignnot_specified
not_provided
0.766840.8097HOM Link to ClinVar
672468669449Likely_benignnot_provided..HET Link to ClinVar
671689670698Benignnot_provided..HET Link to ClinVar
679215669451Benignnot_provided..HET Link to ClinVar
679217670501Benignnot_provided..HET Link to ClinVar
679209670502Benignnot_provided..HOM Link to ClinVar
679218670709Benignnot_provided..HET Link to ClinVar
679222670710Benignnot_provided..HET Link to ClinVar
679210670712Benignnot_provided..HOM Link to ClinVar
679224670715Benignnot_provided..HET Link to ClinVar
9391499816BenignMyosclerosis
Collagen_VI-related_myopathy
not_specified
0.812210.84744HOM Link to ClinVar
668105670474Benignnot_provided..HOM Link to ClinVar
9391699818Benignnot_specified
not_provided
..HET Link to ClinVar
9391999821Benign/Likely_benignnot_specified
not_provided
0.083680.07568HET Link to ClinVar
9392299824Benignnot_specified
not_provided
0.798490.79513HOM Link to ClinVar
9392999831BenignMyosclerosis
Bethlem_myopathy_1
Collagen_VI-related_myopathy
not_specified
not_provided
0.47840.39397HET Link to ClinVar
9393099832BenignMyosclerosis
Collagen_VI-related_myopathy
not_specified
not_provided
0.475510.39417HET Link to ClinVar
9393199833BenignMyosclerosis
Collagen_VI-related_myopathy
not_specified
not_provided
0.475510.39397HET Link to ClinVar
679226669469Benignnot_provided..HET Link to ClinVar
679219670494Benignnot_provided..HET Link to ClinVar
679228670511Benignnot_provided..HET Link to ClinVar
9394099842Benignnot_specified
not_provided
0.535870.48383HOM Link to ClinVar
9394899850Benign/Likely_benignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY
Myosclerosis
Collagen_VI-related_myopathy
not_specified
not_provided
0.092440.06729HET Link to ClinVar
340393350939Likely_benignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY
Myosclerosis
Collagen_VI-related_myopathy
.0.03994HET Link to ClinVar
95424101323BenignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY
not_specified
0.51390.48103HET Link to ClinVar
677175656675Benignnot_provided..HET Link to ClinVar
677221656676Benignnot_provided..HET Link to ClinVar
677174656677Benignnot_provided..HET Link to ClinVar
677173670517Benignnot_provided..HOM Link to ClinVar
677172670522Benignnot_provided..HET Link to ClinVar
677220656678Benignnot_provided..HET Link to ClinVar
677219656679Benignnot_provided..HET Link to ClinVar
403075390367Benignnot_specified0.451470.42173HET Link to ClinVar
718693728978Benignnot_provided..HET Link to ClinVar
403613390484Benignnot_specified0.324120.2486HET Link to ClinVar
402442390504Benignnot_specified..HET Link to ClinVar
340455351957BenignMicrocephalic_Osteodysplastic_Primordial_Dwarfism..HOM Link to ClinVar
95341101240BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
0.64080.67512HET Link to ClinVar
667797670527Benignnot_provided..HET Link to ClinVar
159653169621BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
.0.29992HET Link to ClinVar
668870670727Benignnot_provided..HET Link to ClinVar
159566169626BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
.0.28954HET Link to ClinVar
667796669479Benignnot_provided..HOM Link to ClinVar
159569169629BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.855920.84864HOM Link to ClinVar
667798670498Benignnot_provided..HOM Link to ClinVar
159572169631BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.854810.84705HOM Link to ClinVar
667799670503Benignnot_provided..HOM Link to ClinVar
159573169632Benignnot_specified
not_provided
.0.80651HOM Link to ClinVar
159574169633BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.748680.65775HOM Link to ClinVar
159579169638BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.852750.83886HOM Link to ClinVar
159581169640BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.8530.83766HOM Link to ClinVar
159597169654Benignnot_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.365760.30152HET Link to ClinVar
667804670736Benignnot_provided..HET Link to ClinVar
673979670743Benignnot_provided..HET Link to ClinVar
667805669484Benignnot_provided..HET Link to ClinVar
667543670510Benignnot_provided..HET Link to ClinVar
159642169690BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.281090.2496HET Link to ClinVar
667806670748Benignnot_provided..HET Link to ClinVar
159668169714BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
0.665310.66913HET Link to ClinVar
159670169716BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.577430.48822HET Link to ClinVar
159671169717BenignMicrocephalic_osteodysplastic_primordial_dwarfism_type_2
not_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.639680.66993HET Link to ClinVar
668871670529Benignnot_provided..HET Link to ClinVar
159685169731Benignnot_specified
not_provided
0.359460.3127HET Link to ClinVar
159692169737Benign/Likely_benignnot_specified
Microcephalic_Osteodysplastic_Primordial_Dwarfism
0.127720.10583HET Link to ClinVar
667801670534Benignnot_provided..HET Link to ClinVar
667803670516Benignnot_provided..HET Link to ClinVar
718694728990Benignnot_provided..HET Link to ClinVar
340557346957BenignFamilial_Candidiasis,_Recessive0.794120.77496HOM Link to ClinVar
340561351009Benignnot_specified
Familial_Candidiasis,_Recessive
0.806570.77476HOM Link to ClinVar
340585352040BenignImmunodeficiency_51
not_specified
Familial_Candidiasis,_Recessive
0.811490.83227HET Link to ClinVar
340592351025BenignFamilial_Candidiasis,_Recessive0.115330.12141HET Link to ClinVar
340614351038BenignFamilial_Candidiasis,_Recessive0.239560.27995HET Link to ClinVar
340622351041BenignFamilial_Candidiasis,_Recessive.0.73103HET Link to ClinVar
340624351044BenignFamilial_Candidiasis,_Recessive.0.53974HET Link to ClinVar
340632351047BenignFamilial_Candidiasis,_Recessive.0.55551HET Link to ClinVar
340645347016Uncertain_significanceFamilial_Candidiasis,_Recessive.0.00419HET Link to ClinVar
340670347027BenignFamilial_Candidiasis,_Recessive.0.83666HET Link to ClinVar
340706352116BenignFamilial_Candidiasis,_Recessive.0.48742HET Link to ClinVar
340707337411BenignFamilial_Candidiasis,_Recessive.0.48642HET Link to ClinVar
340710337414BenignFamilial_Candidiasis,_Recessive.0.48602HET Link to ClinVar
340730337449BenignFamilial_Candidiasis,_Recessive.0.61861HET Link to ClinVar
340732347061BenignFamilial_Candidiasis,_Recessive.0.19709HET Link to ClinVar
340736351104BenignFamilial_Candidiasis,_Recessive.0.83686HET Link to ClinVar
402526390468Benignnot_specified0.256830.1873HET Link to ClinVar
402527390370Benignnot_specified0.256470.19189HET Link to ClinVar
402528390485Benignnot_specified.0.1863HET Link to ClinVar
402529390469Benignnot_specified0.43410.3113HET Link to ClinVar
340749352137Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.05831HET Link to ClinVar
340761347074BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)0.61330.42272HET Link to ClinVar
340772352140BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.99581HOM Link to ClinVar
340780352142BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.8734HOM Link to ClinVar
340786351137BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.42312HET Link to ClinVar
340788347084BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..HOM Link to ClinVar
340795351141BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..HOM Link to ClinVar
340803347095BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.8734HOM Link to ClinVar
340807351144BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.99601HOM Link to ClinVar
127267132724Uncertain_significancenot_provided0.7890.76338HOM Link to ClinVar
384743377376Benign/Likely_benignnot_specified
not_provided
0.000910.001HET Link to ClinVar
263369259118Benignnot_specified
Cardiovascular_phenotype
0.701240.71825HET Link to ClinVar
678647670774Benignnot_provided..HET Link to ClinVar
263411259130Benignnot_specified
Cardiovascular_phenotype
0.187880.2512HET Link to ClinVar
384718378611Benignnot_specified0.242140.24221HET Link to ClinVar
678646670531Benignnot_provided..HET Link to ClinVar
678039670535Benignnot_provided..HOM Link to ClinVar
678639670540Benignnot_provided..HET Link to ClinVar
678090670779Benignnot_provided..HOM Link to ClinVar
684049670782Benignnot_provided..HET Link to ClinVar
678085670554Benignnot_provided..HET Link to ClinVar
678638670565Benignnot_provided..HOM Link to ClinVar
263409259140Benignnot_specified
Cardiovascular_phenotype
0.146270.16813HET Link to ClinVar
263343259137Benignnot_specified
Cardiovascular_phenotype
0.444490.48303HET Link to ClinVar
263370259134Benignnot_specified
Cardiovascular_phenotype
0.564880.59684HOM Link to ClinVar
678637670556Benignnot_provided..HOM Link to ClinVar
678660669526Benignnot_provided..HET Link to ClinVar
225950227810drug_responseSelective_serotonin_reuptake_inhibitors_response_-_Efficacy
not_provided
.0.07728HET Link to ClinVar
678640670792Benignnot_provided..HOM Link to ClinVar
256785257574Benignnot_specified0.467970.37161HET Link to ClinVar
256786257575Benignnot_specified0.339170.29693HET Link to ClinVar
1759132630drug_responseCATECHOL-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
0.472750.36921HET Link to ClinVar
256784257576Benignnot_specified..HET Link to ClinVar
684137670569Benignnot_provided..HOM Link to ClinVar
672145669544Benignnot_provided..HET Link to ClinVar
684139670568Benignnot_provided..HET Link to ClinVar
684147670799Benignnot_provided..HET Link to ClinVar
518324508939BenignMarden_Walker_like_syndrome0.581410.53455HOM Link to ClinVar
518325508940BenignMarden_Walker_like_syndrome.0.24221HOM Link to ClinVar
340826352170BenignCerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome
not_specified
0.547280.46386HOM Link to ClinVar
340830337552BenignCerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome
not_specified
not_provided
0.535810.40355HOM Link to ClinVar
340874352211Uncertain_significanceCerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome..HET Link to ClinVar
561399553053Benignnot_provided.0.98942HOM Link to ClinVar
561409553057Benignnot_provided0.42030.35743HOM Link to ClinVar
561529553062Benignnot_provided.0.55112HOM Link to ClinVar
561840553064Benignnot_provided.0.45787HET Link to ClinVar
561426553071Likely_benignnot_provided.0.05232HET Link to ClinVar
561410553073Benignnot_provided.0.42871HET Link to ClinVar
561411553076Benignnot_provided.0.1875HET Link to ClinVar
561412553077Benignnot_provided.0.71206HOM Link to ClinVar
561413553078Benignnot_provided.0.41374HET Link to ClinVar
561664553080Likely_benignnot_provided.0.05351HET Link to ClinVar
561931553081Likely_benignnot_provided.0.05491HET Link to ClinVar
561582553086Benignnot_provided.0.1857HET Link to ClinVar
379413378633Benignnot_provided0.707030.64397HET Link to ClinVar
561414553088Benignnot_provided.0.59165HOM Link to ClinVar
561427553089Likely_benignnot_provided.0.05371HET Link to ClinVar
561667553092Likely_benignnot_provided.0.05272HET Link to ClinVar
561668553094Likely_benignnot_provided.0.05212HET Link to ClinVar
561841553095Benignnot_provided.0.85044HOM Link to ClinVar
561415553097Benignnot_provided0.753410.74301HOM Link to ClinVar
561428553098Likely_benignnot_provided.0.05092HET Link to ClinVar
561418553102Benignnot_provided.0.7522HOM Link to ClinVar
561669553106Likely_benignnot_provided.0.05172HET Link to ClinVar
561419553111Benignnot_provided.0.75439HOM Link to ClinVar
561421553113Benignnot_provided0.291280.20867HET Link to ClinVar
769153778692Benignnot_provided..HOM Link to ClinVar
379953378642BenignSpinal_muscular_atrophy,_jokela_type
not_specified
.0.72983HOM Link to ClinVar
379952378643Benignnot_specified0.878880.87101HOM Link to ClinVar
379951377411Benignnot_specified0.821710.8758HOM Link to ClinVar
684097670574Benignnot_provided..HOM Link to ClinVar
684098669573Benignnot_provided..HOM Link to ClinVar
133392137131not_providednot_specified0.793940.71166HOM Link to ClinVar
677098670805Benignnot_provided..HOM Link to ClinVar
677102670813Benignnot_provided..HOM Link to ClinVar
803646792021BenignHypertelorism,_Teebi_type..HOM Link to ClinVar
803647792022BenignHypertelorism,_Teebi_type..HOM Link to ClinVar
225974227811drug_responsecaffeine_response_-_Toxicity/ADR.0.40056HET Link to ClinVar
100154106031BenignDeficiency_of_beta-ureidopropionase
not_provided
.0.53275HET Link to ClinVar
340947347213BenignCongenital_nuclear_cataract
not_provided
.0.65495HOM Link to ClinVar
259229257578BenignCongenital_nuclear_cataract
not_specified
not_provided
0.655760.66414HOM Link to ClinVar
340965351236BenignHermansky-Pudlak_syndrome.0.85583HOM Link to ClinVar
163670176369BenignHermansky-Pudlak_syndrome
not_specified
0.881930.82728HOM Link to ClinVar
261533257585Benignnot_specified0.901620.85284HOM Link to ClinVar
163671176247BenignHermansky-Pudlak_syndrome
not_specified
0.881770.82748HOM Link to ClinVar
163672176370BenignHermansky-Pudlak_syndrome
not_specified
.0.79313HOM Link to ClinVar
163673176248BenignHermansky-Pudlak_syndrome
not_specified
0.382920.35423HOM Link to ClinVar
261538257588Benignnot_specified0.867420.81849HOM Link to ClinVar
261537257589Benignnot_specified0.84870.79074HOM Link to ClinVar
163674176371BenignHermansky-Pudlak_syndrome
not_specified
0.848680.79313HOM Link to ClinVar
341028352322BenignHermansky-Pudlak_syndrome.0.78954HOM Link to ClinVar
341029337688BenignHermansky-Pudlak_syndrome.0.86681HOM Link to ClinVar
341033347260Likely_benignHermansky-Pudlak_syndrome.0.0649HET Link to ClinVar
341040347269BenignHermansky-Pudlak_syndrome0.83130.78954HOM Link to ClinVar
677163669609Benignnot_provided..HET Link to ClinVar
667637669612Benignnot_provided..HET Link to ClinVar
677231669615Benignnot_provided..HET Link to ClinVar
258486257592Benignnot_specified
not_provided
0.514920.58826HET Link to ClinVar
258487257593Benignnot_specified
not_provided
0.892650.92372HOM Link to ClinVar
674008670609Benignnot_provided..HET Link to ClinVar
723108742837Benignnot_provided..HET Link to ClinVar
522277512967BenignAmyotrophic_lateral_sclerosis_type_1
not_provided
..HOM Link to ClinVar
6674377640BenignAmyotrophic_lateral_sclerosis_type_1
not_provided
0.818980.85044HOM Link to ClinVar
683799670593Benignnot_provided..HET Link to ClinVar
341065337721BenignNeurofibromatosis,_type_2
not_provided
.0.35184HET Link to ClinVar
341066352335BenignNeurofibromatosis,_type_2.0.87021HOM Link to ClinVar
676985670831Benignnot_provided..HET Link to ClinVar
676986670626Benignnot_provided..HET Link to ClinVar
676987670628Benignnot_provided..HET Link to ClinVar
676988670596Benignnot_provided..HET Link to ClinVar
676989669628Benignnot_provided..HET Link to ClinVar
683803669630Benignnot_provided..HET Link to ClinVar
803676792051BenignNeurofibromatosis,_type_2..HOM Link to ClinVar
676991670599Benignnot_provided..HET Link to ClinVar
341131351324BenignNeurofibromatosis,_type_2..HET Link to ClinVar
341149347385BenignNeurofibromatosis,_type_2.0.26298HET Link to ClinVar
341157352370BenignNeurofibromatosis,_type_2.0.26538HET Link to ClinVar
369375353604Likely_benignTranscobalamin_II_deficiency.0.10503HET Link to ClinVar
341183352382BenignTranscobalamin_II_deficiency.0.55451HET Link to ClinVar
9715136BenignTRANSCOBALAMIN_II_POLYMORPHISM
Transcobalamin_II_deficiency
not_specified
.0.57967HET Link to ClinVar
341219347426Likely_benignTranscobalamin_II_deficiency.0.06749HET Link to ClinVar
257661257607BenignSeizures
Epilepsy,_familial_focal,_with_variable_foci_1
not_specified
not_provided
0.021730.02037HET Link to ClinVar
341275352408BenignCongenital_glucose-galactose_malabsorption.0.58826HET Link to ClinVar
341296351413BenignCongenital_glucose-galactose_malabsorption.0.96366HOM Link to ClinVar
341299352418BenignParkinson_Disease,_Recessive.0.53834HET Link to ClinVar
195275192436BenignParkinson_disease_15
not_specified
Parkinson_Disease,_Recessive
0.440030.48742HET Link to ClinVar
341314347523BenignParkinson_disease_15
Parkinson_Disease,_Recessive
0.439950.48762HET Link to ClinVar
341328352436BenignPseudoinflammatory_fundus_dystrophy.0.34185HET Link to ClinVar
255943257609BenignPseudoinflammatory_fundus_dystrophy
not_specified
0.551810.65096HET Link to ClinVar
341374337929Uncertain_significancePseudoinflammatory_fundus_dystrophy..HET Link to ClinVar
683057669642Benignnot_provided..HET Link to ClinVar
683017670859Benignnot_provided..HET Link to ClinVar
683004670621Benignnot_provided..HET Link to ClinVar
684050670896Benignnot_provided..HOM Link to ClinVar
666614654927Benignnot_specified..HOM Link to ClinVar
341469338008BenignMYH9-related_disorder
Nonsyndromic_Hearing_Loss,_Dominant
.0.17812HET Link to ClinVar
341475338013BenignMYH9-related_disorder
Nonsyndromic_Hearing_Loss,_Dominant
.0.22025HET Link to ClinVar
3896747570BenignMacrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss
MYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.258410.29413HET Link to ClinVar
4456553732BenignMYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.258150.29373HET Link to ClinVar
258745257631Benignnot_specified0.591650.48562HET Link to ClinVar
4455953726BenignMYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
.0.98263HOM Link to ClinVar
258730257646Benignnot_specified
not_provided
0.262820.30112HET Link to ClinVar
4455153718BenignMYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.871390.76078HOM Link to ClinVar
4455053717BenignMYH9-related_disorder
not_specified
Nonsyndromic_Hearing_Loss,_Dominant
0.561420.39357HET Link to ClinVar
198201195362Benignnot_specified0.703320.627HOM Link to ClinVar
260308257666BenignChronic_granulomatous_disease
Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_III
not_specified
0.833730.82808HOM Link to ClinVar
262726257669BenignMicrocytic_anemia
not_specified
0.365450.35603HOM Link to ClinVar
262725257670BenignMicrocytic_anemia
not_specified
.0.60463HOM Link to ClinVar
262724257671BenignMicrocytic_anemia
not_specified
..HOM Link to ClinVar
262722257672BenignMicrocytic_anemia
not_specified
0.539020.54353HOM Link to ClinVar
262719257675BenignMicrocytic_anemia
not_specified
0.382670.3129HOM Link to ClinVar
262728257676BenignMicrocytic_anemia
not_specified
0.397930.39038HOM Link to ClinVar
341606352542BenignMicrocytic_anemia.0.28474HET Link to ClinVar
369379353608BenignMicrocytic_anemia.0.31729HET Link to ClinVar
138864142567Benignnot_specified0.170260.2474HET Link to ClinVar
1447229511risk_factorMyocardial_infarction..HOM Link to ClinVar
508110508413Benignnot_specified0.569660.52656HOM Link to ClinVar
198447195608BenignDeafness,_autosomal_recessive_28
not_specified
..HET Link to ClinVar
508111507585Benignnot_specified0.392480.33626HET Link to ClinVar
516766508147Benignnot_specified0.393390.33666HET Link to ClinVar
286830271067Benignnot_specified0.442060.33666HET Link to ClinVar
286831271068Benignnot_specified0.74120.60104HET Link to ClinVar
4385153020Benignnot_specified0.389790.33726HET Link to ClinVar
4385553024Benignnot_specified0.96530.98263HOM Link to ClinVar
257225257683Benignnot_specified..HOM Link to ClinVar
341614352544BenignPeripheral_demyelinating_neuropathy,_central_dysmyelination,_Waardenburg_syndrome,_and_Hirschsprung_disease
Waardenburg_syndrome
.0.60843HOM Link to ClinVar
227081231226BenignPeripheral_demyelinating_neuropathy,_central_dysmyelination,_Waardenburg_syndrome,_and_Hirschsprung_disease
Waardenburg_syndrome
not_specified
0.653680.71326HOM Link to ClinVar
670882670672Benignnot_provided..HET Link to ClinVar
678102669684Benignnot_provided..HET Link to ClinVar
341713347823BenignNephronophthisis-Like_Nephropathy.0.59465HOM Link to ClinVar
9373299635BenignRubinstein-Taybi_syndrome_1
not_specified
0.989180.96166HOM Link to ClinVar
9373699639BenignRubinstein-Taybi_syndrome_1
not_specified
0.295930.22344HET Link to ClinVar
9373899641BenignRubinstein-Taybi_syndrome_1
not_specified
0.657250.67392HOM Link to ClinVar
9374199644Benignnot_specified0.301080.2484HET Link to ClinVar
9374299645Benignnot_specified0.308470.26418HET Link to ClinVar
158555169838BenignRubinstein-Taybi_syndrome_1
not_specified
..HET Link to ClinVar
128256133705Benignnot_specified
not_provided
0.321050.41833HET Link to ClinVar
128257133706Benignnot_specified
not_provided
0.399270.27037HET Link to ClinVar
678096670674Benignnot_provided..HET Link to ClinVar
136263139966Benignnot_specified0.337110.48443HET Link to ClinVar
683113669696Benignnot_provided..HET Link to ClinVar
678097669698Benignnot_provided..HET Link to ClinVar
683142670678Benignnot_provided..HET Link to ClinVar
678098670682Benignnot_provided..HET Link to ClinVar
341885351725BenignKanzaki_disease
Schindler_disease,_type_1
.0.64756HOM Link to ClinVar
341891351735BenignKanzaki_disease
Schindler_disease,_type_1
.0.45947HET Link to ClinVar
198062195223BenignKanzaki_disease
Schindler_disease,_type_1
not_specified
not_provided
0.171380.16813HET Link to ClinVar
682645670696Benignnot_provided..HOM Link to ClinVar
682644670919Benignnot_provided..HOM Link to ClinVar
196242193403BenignKanzaki_disease
Schindler_disease,_type_1
not_specified
not_provided
0.67280.67692HOM Link to ClinVar
341917352623BenignKanzaki_disease
Schindler_disease,_type_1
not_provided
.0.64237HOM Link to ClinVar
684292670700Benignnot_provided..HET Link to ClinVar
682643670651Benignnot_provided..HOM Link to ClinVar
682642669700Benignnot_provided..HOM Link to ClinVar
516889508193Likely_benignnot_specified0.455560.40116HET Link to ClinVar
516890508196Likely_benignnot_specified0.656660.64078HOM Link to ClinVar
1688931928drug_responseDebrisoquine,_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
0.170760.09305HET Link to ClinVar
1689331932Likely_benign,_otherDebrisoquine,_poor_metabolism_of
not_specified
not_provided
0.246690.23802HET Link to ClinVar
403577390488Benignnot_specified.0.01558HET Link to ClinVar
403579390421Benignnot_specified0.260670.14816HET Link to ClinVar
403580390425Benignnot_specified0.248090.14856HET Link to ClinVar
341943348026Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Disease0.677810.78774HOM Link to ClinVar
341949348031Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Disease.0.24661HET Link to ClinVar
341954338402Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Disease..HET Link to ClinVar
341956348034Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Disease.0.16494HET Link to ClinVar
341970348048Uncertain_significanceRenal_hypodysplasia/aplasia_10.000140.0002HET Link to ClinVar
341974338422Benign/Likely_benignRenal_hypodysplasia/aplasia_10.697090.54812HET Link to ClinVar
341977338423Benign/Likely_benignRenal_hypodysplasia/aplasia_10.778820.77436HET Link to ClinVar
129016329BenignDeafness,_mitochondrial,_modifier_of
Liver_failure_acute_infantile
not_specified
not_provided
0.19670.10563HOM Link to ClinVar
671698670657Benignnot_provided..HOM Link to ClinVar
676432670714Benignnot_provided..HOM Link to ClinVar
342028348087BenignLiver_failure_acute_infantile.0.19329HOM Link to ClinVar
342032338484Likely_benignCongenital_disorder_of_glycosylation0.114070.06649HET Link to ClinVar
342038351793BenignCongenital_disorder_of_glycosylation0.27490.40216HET Link to ClinVar
96095101989Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.112150.09165HET Link to ClinVar
96102101996BenignCongenital_disorder_of_glycosylation
not_specified
not_provided
0.270370.40216HET Link to ClinVar
261688257696Benignnot_specified0.270440.40196HET Link to ClinVar
261687257697Benignnot_specified.0.26538HET Link to ClinVar
96098101992Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.223720.26558HET Link to ClinVar
96099101993Benign/Likely_benignCongenital_disorder_of_glycosylation
not_specified
0.223790.26558HET Link to ClinVar
96096101990Benignnot_specified0.093490.07029HET Link to ClinVar
342066351806Likely_benignCongenital_disorder_of_glycosylation.0.2512HET Link to ClinVar
342067338526Likely_benignCongenital_disorder_of_glycosylation..HET Link to ClinVar
342068352662Likely_benignCongenital_disorder_of_glycosylation.0.24481HET Link to ClinVar
770820778490Benignnot_provided..HET Link to ClinVar
262456257699BenignMegalencephalic_leukoencephalopathy_with_subcortical_cysts
not_specified
0.297420.28295HOM Link to ClinVar
260573257708Benignnot_specified0.951450.97364HOM Link to ClinVar
342119348156BenignMegalencephalic_leukoencephalopathy_with_subcortical_cysts..HOM Link to ClinVar
518327508942BenignMicrocephaly_and_chorioretinopathy,_autosomal_recessive,_10.965960.98243HOM Link to ClinVar
518329508944BenignMicrocephaly_and_chorioretinopathy,_autosomal_recessive,_10.791190.85883HOM Link to ClinVar
258881257710Benignnot_specified0.51760.501HET Link to ClinVar
139087142790Conflicting_interpretations_of_pathogenicityHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided
0.005840.0018HET Link to ClinVar
139086142789BenignHepatic_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
0.638350.65555HET Link to ClinVar
139082142785BenignHepatic_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
.0.65156HET Link to ClinVar
139081142784BenignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy
.0.14297HET Link to ClinVar
342130351827BenignHepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency
Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
Fatal_Infantile_Cardioencephalomyopathy
.0.53395HET Link to ClinVar
130693136139BenignMitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided
.0.14277HET Link to ClinVar
137878141581Benign/Likely_benignMitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)
not_specified
Fatal_Infantile_Cardioencephalomyopathy
not_provided
0.054540.02376HET Link to ClinVar
130694136140BenignHepatic_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
0.672130.53295HET Link to ClinVar
671618670728Benignnot_provided..HET Link to ClinVar
670262669706Benignnot_provided..HOM Link to ClinVar
128729134178Benignnot_specified
Congenital_Muscular_Dystrophy,_CHKB-related
0.700720.70328HET Link to ClinVar
668085669723Benignnot_provided..HOM Link to ClinVar
668084669726Benignnot_provided..HET Link to ClinVar
342205348215BenignMetachromatic_leukodystrophy.0.47624HET Link to ClinVar
342214352699BenignMetachromatic_leukodystrophy.0.83486HET Link to ClinVar
342216351896BenignMetachromatic_leukodystrophy.0.34904HET Link to ClinVar
342221348232BenignMetachromatic_leukodystrophy.0.35104HET Link to ClinVar
342227351906Likely_benignMetachromatic_leukodystrophy.0.11362HET Link to ClinVar
9311899025Benignnot_specified
not_provided
0.797690.81909HET Link to ClinVar
2118434036BenignMetachromatic_leukodystrophy
not_specified
not_provided
0.484310.40555HET Link to ClinVar
672054670684Benignnot_provided..HET Link to ClinVar
403431390489BenignHistory_of_neurodevelopmental_disorder
not_specified
0.511550.34325HOM Link to ClinVar
402335390377Benignnot_specified
not_provided
0.661270.63838HET Link to ClinVar
9309298999Benignnot_specified
not_provided
.0.95868HOM Link to ClinVar
265860260560Uncertain_significanceShort_stature,_idiopathic,_X-linked.0.12212HET Link to ClinVar
178717178252Benignnot_specified0.37150.32662HET Link to ClinVar
379979380029Benignnot_specified0.957680.91868. Link to ClinVar
684112670773Benignnot_provided... Link to ClinVar
684114670781Benignnot_provided... Link to ClinVar
684117669917Benignnot_provided... Link to ClinVar
684124671107Benignnot_provided... Link to ClinVar
379982379223Benignnot_specified0.701640.57828. Link to ClinVar
684126669922Benignnot_provided... Link to ClinVar
684129670885Benignnot_provided... Link to ClinVar
684131671108Benignnot_provided... Link to ClinVar
379983378170Benignnot_specified0.667820.57536. Link to ClinVar
157730167578Benignnot_specified
not_provided
0.625980.56583. Link to ClinVar
157728167576BenignChondrodysplasia_punctata_1,_X-linked_recessive
not_specified
not_provided
0.65930.57457. Link to ClinVar
667510669926Benignnot_provided... Link to ClinVar
674716671112Benignnot_provided... Link to ClinVar
769169706214Benignnot_provided... Link to ClinVar
95987101883BenignHistory_of_neurodevelopmental_disorder
not_specified
0.113690.1208. Link to ClinVar
255564257885Benignnot_specified0.569480.48185. Link to ClinVar
673328671095Benignnot_provided... Link to ClinVar
255563257886Benignnot_specified0.591570.48821. Link to ClinVar
667655671188Benignnot_provided... Link to ClinVar
129215134661BenignHistory_of_neurodevelopmental_disorder
not_specified
0.018380.00848. Link to ClinVar
95614101512Benignnot_specified0.992850.99523. Link to ClinVar
367968338927BenignSpondyloepiphyseal_dysplasia.0.77298. Link to ClinVar
367970338933BenignSpondyloepiphyseal_dysplasia... Link to ClinVar
367978348506BenignSpondyloepiphyseal_dysplasia... Link to ClinVar
367981352077BenignSpondyloepiphyseal_dysplasia.0.69669. Link to ClinVar
4115749579BenignOrofaciodigital_syndrome_I.0.37669. Link to ClinVar
94370100270Benignnot_specified0.336120.38384. Link to ClinVar
691313678986Likely_benignHypothyroidism,_central,_and_testicular_enlargement... Link to ClinVar
691312678987Likely_benignHypothyroidism,_central,_and_testicular_enlargement... Link to ClinVar
9346799372BenignVACTERL_association_with_hydrocephalus
Hypothyroidism,_central,_and_testicular_enlargement
not_specified
Fanconi_Anemia,_X-Linked
not_provided
0.563760.43364. Link to ClinVar
691303678995Likely_benignHypothyroidism,_central,_and_testicular_enlargement... Link to ClinVar
691297679001Likely_benignHypothyroidism,_central,_and_testicular_enlargement... Link to ClinVar
368036352786BenignVACTERL_association_with_hydrocephalus
Hypothyroidism,_central,_and_testicular_enlargement
Fanconi_Anemia,_X-Linked
.0.52556. Link to ClinVar
96644102537Benign/Likely_benignnot_specified... Link to ClinVar
136713140416BenignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
0.039760.01669. Link to ClinVar
96546102440BenignHistory_of_neurodevelopmental_disorder
not_specified
0.594250.6355. Link to ClinVar
128994134440Likely_benignnot_specified.0.36318. Link to ClinVar
368183352823BenignNon-syndromic_X-linked_intellectual_disability... Link to ClinVar
680543670807Benignnot_provided... Link to ClinVar
94854100754Benign/Likely_benignDilated_cardiomyopathy_3B
not_specified
0.883610.80397. Link to ClinVar
671240671117Benignnot_provided... Link to ClinVar
672561670811Benignnot_provided... Link to ClinVar
678092669960Benignnot_provided... Link to ClinVar
678473669963Benignnot_provided... Link to ClinVar
680541671119Benignnot_provided... Link to ClinVar
680544671121Benignnot_provided... Link to ClinVar
672560670823Benignnot_provided... Link to ClinVar
671291669971Benignnot_provided... Link to ClinVar
680538671123Benignnot_provided... Link to ClinVar
680536671124Benignnot_provided... Link to ClinVar
166667177478BenignDuchenne_muscular_dystrophy
not_specified
0.904520.88185. Link to ClinVar
94783100683Benign/Likely_benignDilated_cardiomyopathy_3B
not_specified
0.339780.32848. Link to ClinVar
679287670940Benignnot_provided... Link to ClinVar
672525670949Benignnot_provided... Link to ClinVar
674303670951Benignnot_provided... Link to ClinVar
671088670832Benignnot_provided... Link to ClinVar
439609433498Benignnot_specified
not_provided
0.329350.32901. Link to ClinVar
671238669996Benignnot_provided... Link to ClinVar
672522670967Benignnot_provided... Link to ClinVar
679286670980Benignnot_provided... Link to ClinVar
94657100557Benign/Likely_benignDuchenne_muscular_dystrophy
Dilated_cardiomyopathy_3B
not_specified
Cardiovascular_phenotype
not_provided
0.514170.46517. Link to ClinVar
671085670009Benignnot_provided... Link to ClinVar
672517671134Benignnot_provided... Link to ClinVar
672488670865Benignnot_provided... Link to ClinVar
680537670867Benignnot_provided... Link to ClinVar
679284670039Benignnot_provided... Link to ClinVar
94495100395Benign/Likely_benignDilated_cardiomyopathy_3B
not_specified
0.320350.41219. Link to ClinVar
671082670874Benignnot_provided... Link to ClinVar
671081671141Benignnot_provided... Link to ClinVar
680546670046Benignnot_provided... Link to ClinVar
680545671024Benignnot_provided... Link to ClinVar
674341671143Benignnot_provided... Link to ClinVar
671236670883Benignnot_provided... Link to ClinVar
678471670061Benignnot_provided... Link to ClinVar
98793104683Likely_benignnot_specified
not_provided
0.018730.04132. Link to ClinVar
9285698763Benignnot_specified0.228180.37192. Link to ClinVar
680701671038Benignnot_provided... Link to ClinVar
676164671150Benignnot_provided... Link to ClinVar
680703670065Benignnot_provided... Link to ClinVar
95772101669BenignOculofaciocardiodental_syndrome
History_of_neurodevelopmental_disorder
not_specified
0.157650.13669. Link to ClinVar
668777670927Benignnot_provided... Link to ClinVar
680088671054Benignnot_provided... Link to ClinVar
668858670096Benignnot_provided... Link to ClinVar
368312352863BenignRetinitis_pigmentosa_15.0.98358. Link to ClinVar
368331352254BenignSpinal_muscular_atrophy,_X-linked_2
not_specified
not_provided
.0.97113. Link to ClinVar
368382352264BenignNon-syndromic_X-linked_intellectual_disability.0.77934. Link to ClinVar
720215729615Benignnot_provided... Link to ClinVar
96364102258BenignHistory_of_neurodevelopmental_disorder
not_specified
not_provided
0.380820.36874. Link to ClinVar
402535390437Benignnot_specified0.228720.20689. Link to ClinVar
158531170112Benignnot_specified.0.31523. Link to ClinVar
95309101208BenignRenpenning_syndrome_1
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.612380.62543. Link to ClinVar
197791194952Benignnot_specified0.081070.01748. Link to ClinVar
166778177540Benign/Likely_benignnot_specified
not_provided
0.052810.01881. Link to ClinVar
284920269157Benignnot_specified0.556270.47523. Link to ClinVar
804001792471BenignDent_disease_1... Link to ClinVar
95973101869Benignnot_specified.0.29987. Link to ClinVar
95971101867Benignnot_specified... Link to ClinVar
94872100772Benignnot_specified0.891980.73033. Link to ClinVar
683643671165Benignnot_provided... Link to ClinVar
95364101263Benignnot_specified
Cornelia_de_Lange_Syndrome
0.516290.39841. Link to ClinVar
96203102097BenignHistory_of_neurodevelopmental_disorder
not_specified
0.997340.99497. Link to ClinVar
129253134699BenignHistory_of_neurodevelopmental_disorder
not_specified
0.489550.38967. Link to ClinVar
96550102443Benignnot_specified0.973720.91444. Link to ClinVar
667774671077Benignnot_provided... Link to ClinVar
667771671168Benignnot_provided... Link to ClinVar
667769670134Benignnot_provided... Link to ClinVar
4420753374Benignnot_specified0.344180.22172. Link to ClinVar
287265271502Benignnot_specified0.334320.34676. Link to ClinVar
670932670962Benignnot_provided... Link to ClinVar
259633257867Benign/Likely_benignnot_specified
not_provided
0.233170.11126. Link to ClinVar
683968670964Benignnot_provided... Link to ClinVar
674293671170Benignnot_provided... Link to ClinVar
95257101156Benignnot_specified
not_provided
0.222980.11417. Link to ClinVar
674530670970Benignnot_provided... Link to ClinVar
673346671172Benignnot_provided... Link to ClinVar
674295671173Benignnot_provided... Link to ClinVar
673347671078Benignnot_provided... Link to ClinVar
674531670973Benignnot_provided... Link to ClinVar
674532670976Benignnot_provided... Link to ClinVar
95248101147BenignHistory_of_neurodevelopmental_disorder
not_specified
Cardiovascular_phenotype
not_provided
0.246110.11099. Link to ClinVar
259637257871Benignnot_specified
not_provided
0.238370.11815. Link to ClinVar
674533671174Benignnot_provided... Link to ClinVar
674534670982Benignnot_provided... Link to ClinVar
683154670983Benignnot_provided... Link to ClinVar
673789671175Benignnot_provided... Link to ClinVar
673790670148Benignnot_provided... Link to ClinVar
673791670986Benignnot_provided... Link to ClinVar
673349671081Benignnot_provided... Link to ClinVar
667467670162Benignnot_provided... Link to ClinVar
159903170185Likely_benignnot_specified0.605770.34384. Link to ClinVar
678099671086Benignnot_provided... Link to ClinVar
9238498295BenignMenkes_kinky-hair_syndrome
History_of_neurodevelopmental_disorder
not_specified
11. Link to ClinVar
368680352952BenignNon-syndromic_X-linked_intellectual_disability.0.52106. Link to ClinVar
368720339605BenignNon-syndromic_X-linked_intellectual_disability... Link to ClinVar
281080265317Benignnot_specified0.99720.98967. Link to ClinVar
811240800324BenignDeafness,_X-linked_2... Link to ClinVar
130847136291BenignNon-syndromic_X-linked_intellectual_disability
not_specified
.0.23364. Link to ClinVar
368751339626BenignNon-syndromic_X-linked_intellectual_disability.0.23311. Link to ClinVar
368755349119BenignPremature_ovarian_failure_2b
Non-syndromic_X-linked_intellectual_disability
.0.23338. Link to ClinVar
368762352978BenignPremature_ovarian_failure_2b
Non-syndromic_X-linked_intellectual_disability
.0.23311. Link to ClinVar
368763352979BenignPremature_ovarian_failure_2b
Non-syndromic_X-linked_intellectual_disability
.0.23391. Link to ClinVar
368767352466BenignPremature_ovarian_failure_2b.0.23417. Link to ClinVar
368771352983BenignPremature_ovarian_failure_2b.0.13589. Link to ClinVar
368776352985BenignPremature_ovarian_failure_2b.0.23391. Link to ClinVar
368780339631BenignPremature_ovarian_failure_2b0.621230.98861. Link to ClinVar
368787352472BenignPremature_ovarian_failure_2b0.8530.91205. Link to ClinVar
670593670946Benignnot_provided... Link to ClinVar
670592669731Benignnot_provided... Link to ClinVar
670790670948Benignnot_provided... Link to ClinVar
667526670691Benignnot_provided... Link to ClinVar
691856679561Benignnot_specified... Link to ClinVar
691854679563Benignnot_specified... Link to ClinVar
670482669752Benignnot_provided... Link to ClinVar
258270257731Benignnot_specified0.995110.98384. Link to ClinVar
258267257734Benignnot_specified0.685130.57325. Link to ClinVar
369632353861BenignNon-syndromic_X-linked_intellectual_disability... Link to ClinVar
238289243731BenignHistory_of_neurodevelopmental_disorder
Epileptic_encephalopathy,_early_infantile,_36
not_specified
0.018620.0053. Link to ClinVar
676336656729Benignnot_provided... Link to ClinVar
988524924BenignSEROTONIN_5-HT-2C_RECEPTOR_POLYMORPHISM
not_provided
0.154370.16583. Link to ClinVar
684056670784Benignnot_provided... Link to ClinVar
673765670789Benignnot_provided... Link to ClinVar
670475670985Benignnot_provided... Link to ClinVar
684051670993Benignnot_provided... Link to ClinVar
367743351990Likely_benignHypertrophic_cardiomyopathy
Danon_disease
.0.70967. Link to ClinVar
679266669829Benignnot_provided... Link to ClinVar
367863348434BenignLymphoproliferative_syndrome0.041830.02172. Link to ClinVar
367875348443BenignLymphoproliferative_syndrome... Link to ClinVar
367885352057BenignLymphoproliferative_syndrome.0.18861. Link to ClinVar
804084792121BenignLowe_syndrome... Link to ClinVar
1156726606risk_factorAngioedema_induced_by_ACE_inhibitors,_susceptibility_to.0.23099. Link to ClinVar
197828194989Benignnot_specified0.906960.80053. Link to ClinVar
683838670718Benignnot_provided... Link to ClinVar
677968670721Benignnot_provided... Link to ClinVar
367892352059BenignDeafness,_X-linked_5
Combined_oxidative_phosphorylation_deficiency
not_provided
0.432940.49113. Link to ClinVar
677967670810Benignnot_provided... Link to ClinVar
257593257749BenignHypothyroidism,_central,_and_testicular_enlargement
not_specified
0.968280.90623. Link to ClinVar
670935670725Benignnot_provided... Link to ClinVar
9402899930Benignnot_specified0.982910.95417. Link to ClinVar
9261998527BenignMucopolysaccharidosis,_MPS-II
History_of_neurodevelopmental_disorder
not_specified
not_provided
0.278310.19258. Link to ClinVar
159450170076Benignnot_specified0.876370.86146. Link to ClinVar
518408508950BenignSpinocerebellar_ataxia,_X-linked_10.996960.98861. Link to ClinVar
518409508951BenignSpinocerebellar_ataxia,_X-linked_10.996680.98543. Link to ClinVar
518410508952BenignSpinocerebellar_ataxia,_X-linked_10.982210.9457. Link to ClinVar
518411508953BenignSpinocerebellar_ataxia,_X-linked_10.52860.47391. Link to ClinVar
518412508954BenignSpinocerebellar_ataxia,_X-linked_10.931660.88106. Link to ClinVar
130355135802BenignCreatine_deficiency,_X-linked
History_of_neurodevelopmental_disorder
not_specified
not_provided
1.. Link to ClinVar
439347433335Benignnot_specified0.650420.61351. Link to ClinVar
166627177456Benign/Likely_benignAdrenoleukodystrophy
History_of_neurodevelopmental_disorder
not_specified
not_provided
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+
Variant IDChromosomePositionRefAltAllele IDClinical SignificanceDisease NameFrequency GO-ESPFrequency EXACFrequency 1000 Genomes ProjectGTZygosityURL
02631591977570GA249309Benignnot_specified|not_provided0.774120.894640.794131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16779471977780CT656915Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22631601978603CCTC249310Benignnot_specified0.399410.560940.479231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36779481980460GA656961Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42631721981087AG249321Benignnot_specified|not_provided0.832080.912750.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52631751981328CG249324Likely_benignnot_specified0.000230.00018.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61282971981931AG133746Benignnot_specified0.780220.876750.797721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76779501982444AG656892Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86779511982462TC656963Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96779521982513TC656900Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102631811982941TC249331Benignnot_specified0.76657.0.799921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111283021982994TC133751Benignnot_specified0.791170.898930.835861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126792931984171CAGC656918Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131283071984302TC133756Benignnot_specified0.458630.629480.545731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
142631881985266CT249338Benignnot_specified0.402220.543650.495211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152631911985446GT249341Benignnot_specified.0.456650.335461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
162631921985449GA249342Benignnot_specified.0.530060.525561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
176779541986443CT656926Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
181283171987200CT133766Benignnot_specified0.756920.875690.788741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
196779551988932GC656939Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
201283191990280CT133768Benignnot_specified0.579160.637640.585261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2125682411956362GA249668Benignnot_specified0.81970.804440.775561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2225682311957037TC249669Benignnot_specified|not_provided0.68430.593390.56131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2367236112234251AG657433Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2467379412234903CT657434Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2526279112337277CT249841Benign/Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.082050.152960.080870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2613534912488153AG139088not_providednot_specified0.558030.544310.614820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2713339912490609TC137138not_providednot_specified.0.006130.00140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2813340412490898CA137143not_providednot_specified.0.589910.640781|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2913340612490942CA137145not_providednot_specified..0.597841|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3013341412491205CT137153not_providednot_specified.0.659610.643971|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3113535512494330GA139094not_providednot_specified0.123330.129530.113820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3267470612985885CG657839Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3367472913312963CT657891Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3467473113313282GA657892Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3568370613319061AG657896Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3667473213319674CT657843Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3767473313319681CG657844Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3867473513321134GA657849Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3966955213321715GC657852Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4022702613328358TC228438BenignLeft_ventricular_noncompaction_8|not_specified0.87774.0.945090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4122702713328659CT228440Benignnot_specified0.152310.131030.106030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4238119413329384CT365234Benignnot_specified0.138280.215510.107030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4367860013330884GA657927Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4467471413342530GA657890Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4568370713348268GC657895Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4626055915925371GA249994Benignnot_specified0.33790.445790.317890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
479568315926507TC101580BenignNephronophthisis|Renal_dysplasia_and_retinal_a...0.349020.460430.319690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4826055415934490AG249999Benignnot_specified0.672920.656570.569291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4926055315934500TC250000Benignnot_specified0.174980.314270.271170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5016737515935162AT177885BenignNephronophthisis_4|not_specified|not_provided0.843130.836250.843251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5126054715937391CT250004Benignnot_specified0.851550.810790.832670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5268280116517179GC658000Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5368280216520024CA658028Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5429790416526183GA281043BenignDistal_spinal_muscular_atrophy0.165890.169380.202280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5529790516526202CCGTGCTCTC281645BenignDistal_spinal_muscular_atrophy...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5629790616526240GCGCCG281648BenignDistal_spinal_muscular_atrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5729791016526319CT281658Likely_benignDistal_spinal_muscular_atrophy..0.086260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5829791216526465CG283150BenignDistal_spinal_muscular_atrophy..0.204270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5929791616526633GA283153BenignDistal_spinal_muscular_atrophy..0.201080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6029792816527333AG282866BenignDistal_spinal_muscular_atrophy..0.266970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6166794016527745CT658030Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6228556816528589CT269805Benign/Likely_benignDistal_spinal_muscular_atrophy|not_specified0.062610.053530.055710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6319497916529182TTCCT192141Benign/Likely_benignDistal_spinal_muscular_atrophy|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6419488116529443AG192043BenignDistal_spinal_muscular_atrophy|not_specified0.287180.172340.269570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6566793816530189GA657887Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6667055716530965CCG657962Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6729795916531589CT281077Likely_benignDistal_spinal_muscular_atrophy0.067750.062930.055310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6819889516533393GC196055BenignDistal_spinal_muscular_atrophy|not_specified0.27270.221240.285740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6966793716534781GA658029Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7029811318021778TC283315BenignParkinson_Disease,_Recessive..0.637381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7172117218568701GA719112Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72260540110338204CT249268Benignnot_specified0.030830.032670.014580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73129400110421878AG134846Benign/Likely_benignPheochromocytoma|Neuroblastoma|Charcot-Marie-T...0.090340.112760.080270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74291606110437778CT275918Likely_benignPheochromocytoma|Neuroblastoma|Charcot-Marie-T.....0.093650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75291608110437804GA275756Likely_benignPheochromocytoma|Neuroblastoma|Charcot-Marie-T.....0.093650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76291609110437995GGA275764Uncertain_significancePheochromocytoma|Neuroblastoma|Charcot-Marie-T......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77291618110438687CT275844BenignPheochromocytoma|Neuroblastoma|Charcot-Marie-T.....0.546530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78368794110441664TC353023BenignPheochromocytoma|Neuroblastoma|Charcot-Marie-T.....0.526960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7995145110678488AT101045BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.186530.157870.194890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80167454110689942GT177935Benign/Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.140820.157760.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81522225111080723TTG512791BenignAmyotrophic_lateral_sclerosis_type_10...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82291763111085004AATGTTT276114BenignFrontotemporal_dementia|MASP2_deficiency|Amyot......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83291772111086717AG275885BenignFrontotemporal_dementia|MASP2_deficiency|Amyot.....0.709670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84291781111087524GA275846BenignFrontotemporal_dementia|MASP2_deficiency|not_s...0.673150.78550.68750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85291785111090897AG275927Likely_benignMASP2_deficiency0.055360.052850.118410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86291790111097867CT275866BenignMASP2_deficiency0.08350.061770.131390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
87516652111181327CT497964Benignnot_specified0.302090.218440.220650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88380311111190646GA364358Benignnot_specified0.305940.221520.228630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89516653111301714AG498006Benignnot_specified0.585350.716980.639580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90291872111346336AG275981Likely_benignSchnyder_crystalline_corneal_dystrophy..0.009190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91291887111347155CCTGTT276079BenignSchnyder_crystalline_corneal_dystrophy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92292153111846092GGT276302BenignNeural_tube_defects,_folate-sensitive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93292158111846252GA276582Likely_benignNeural_tube_defects,_folate-sensitive..0.706470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94292160111846447GA276602BenignNeural_tube_defects,_folate-sensitive..0.933311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95292171111847334GGGAA276604Likely_benignNeural_tube_defects,_folate-sensitive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96292181111847759CT276668Likely_benignNeural_tube_defects,_folate-sensitive..0.558510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97292191111848139GA276111Likely_benignNeural_tube_defects,_folate-sensitive.0.236780.12681|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98292203111848879AG276650BenignNeural_tube_defects,_folate-sensitive..0.930511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99292209111849447AG276356BenignNeural_tube_defects,_folate-sensitive.0.987120.932911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100292223111850365TG276753Likely_benignNeural_tube_defects,_folate-sensitive..0.62840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101167306111854457GA177842BenignNeural_tube_defects,_folate-sensitive|not_spec...0.890510.969660.902961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023521111854476TG18560Conflicting_interpretations_of_pathogenicity,_...Schizophrenia,_susceptibility_to|Gastrointesti...0.259570.2950.24941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1033520111856378GA18559drug_responseVenous_thrombosis|Neoplasm_of_stomach|Gastroin...0.270570.303670.245410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104683180112052405GA657052Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105439571115769139GA432974Benignnot_specified..0.182910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106439565115770101CA432977BenignHereditary_pancreatitis0.22882.0.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107439563115772057GT432983BenignHereditary_pancreatitis0.37075.0.357630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
108585697116351275AG576424BenignBartter_syndrome,_type_4b|not_provided0.600880.563640.642971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109585696116358932TC576425Benignnot_provided0.695220.688220.7491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110447107116371067GT440382Benignnot_specified|not_provided0.5263.0.555511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111447104116373124AG440387Benignnot_specified|not_provided0.672150.802230.740421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112447105116374533GC440388Benignnot_specified|not_provided0.878440.929840.893971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113381050116374994CT364523Benign/Likely_benignnot_specified|not_provided.0.80080.738621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
114789426116375063CAGC706794Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115447108116376191CT440389Benignnot_specified|not_provided.0.909630.829871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116377683116376319TC364524Benignnot_specified|not_provided0.815090.911350.830071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117504914116377108GC496594Benignnot_specified0.180920.231370.162540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118447094116380196TC440394Benignnot_specified0.888250.931010.838261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119447096116380243AG440395Benignnot_specified|not_provided0.700830.658570.701680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120447097116380252CT440396Benignnot_specified|not_provided0.611330.621030.613620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121293400116451413CT278005BenignAge-related_cortical_cataract..0.905751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122767658117250836AG696246Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123772652117272037GA696248Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124128475117312743CT133924BenignParkinson_disease_9|History_of_neurodevelopmen...0.421320.506530.331270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125559000117313157GA549503Benignnot_provided0.423180.495820.346850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126128473117313343GA133922BenignParkinson_disease_9|History_of_neurodevelopmen...0.416420.464790.338460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127128470117313654CT133919BenignParkinson_disease_9|History_of_neurodevelopmen...0.425560.463860.346250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128128466117314942GA133915BenignParkinson_disease_9|History_of_neurodevelopmen...0.415420.458950.338660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129128465117319011GA133914BenignParkinson_disease_9|History_of_neurodevelopmen...0.569280.553970.448480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130703790117328301TC695018Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131258889117359676CA249532Benignnot_specified0.952330.971890.959071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13244641117380497GT53808BenignPheochromocytoma|Hereditary_cancer-predisposin...0.95147.0.957071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133590790117662639TC581729associationRheumatoid_arthritis0.539750.561920.515181/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134294367119201928CT279073Likely_benignHyperprolinemia0.112030.104390.047920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135294382119203997CG278123BenignHyperprolinemia0.711540.707170.641570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136262027120964328AG249677Benignnot_specified|Parkinson_Disease,_Recessive|not...0.843380.862280.821891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137262028120972048GA249678Benignnot_specified|Parkinson_Disease,_Recessive|not...0.844230.862760.820691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138295004120972111GA278643Benign/Likely_benignParkinson_disease_6,_autosomal_recessive_early...0.037440.092110.12280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139295006120977000AC279809Benign/Likely_benignCongenital_disorder_of_glycosylation|Parkinson...0.270030.297390.300521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140295011120977221AT278644BenignCongenital_disorder_of_glycosylation|Parkinson...0.853350.863890.834471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
141295013120977365CG278645BenignCongenital_disorder_of_glycosylation|Parkinson.....0.836661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
142295014120977380TC278656Likely_benignCongenital_disorder_of_glycosylation|Parkinson.....0.300121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
143295021120977710CCAGTA278548Uncertain_significanceParkinson_Disease,_Recessive...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
144295024120977748TG279966Likely_benignCongenital_disorder_of_glycosylation|Parkinson.....0.299921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
145295030120977856TC279967Likely_benignCongenital_disorder_of_glycosylation|Parkinson.....0.302721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
146295031120977907AAAGAG278679Likely_benignCongenital_disorder_of_glycosylation|Parkinson......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
147295057120978832TC279865BenignCongenital_disorder_of_glycosylation|Parkinson...0.84402.0.824881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
148258081121571601GA249711Benignnot_specified0.207980.240520.160140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
149258080121573722GA249712Benignnot_specified0.196990.220410.146770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
150197678121889635TC194839Benignnot_specified0.921730.944980.929510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
151295558121904206CT279050BenignHypophosphatasia..0.336660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152295561121904267AG278910BenignHypophosphatasia..0.868211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
153295563121904374AC278914BenignHypophosphatasia..0.164540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
154295571121904826AAT278920Likely_benignHypophosphatasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
155295685122149183GC280433BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom.....0.319890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
156295695122149935TC280437BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.79233.0.780351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
157295700122150120CT280442BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.145930.184870.176120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
158295701122150160GT278997BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.12956..1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
159295707122154845AG279137BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.252350.298210.257190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
160439796122155723TC433613Benignnot_specified..0.763381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
161618168122155841TC609379Benignnot_specified0.130630.182070.156350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
162618169122155853CT609380Benignnot_specified0.145320.184710.171530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
163295723122159008CA280489BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.13248.0.157750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
164295729122160111CT280462BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.132940.175750.164140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
165295733122161275GA279065BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.133250.174760.159550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
166295750122165901AG280514BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.349920.287570.346050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
167295753122165987GA279250BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.124640.17280.152160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
168295787122174600AG280605BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.783870.811560.761981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
169291236122191454GA275473BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.699140.746310.691490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
170285755122199245CT269992BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.524690.606650.424921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
171295864122202109CT279443BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.940870.983740.942291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
172295881122206649TC280764BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.93518.0.929911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
173295882122206942GA280765BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.935180.981180.929911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
174295887122207235TC279454BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.975660.993120.973641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
175439797122208030CT433614Benignnot_specified0.926880.968770.925921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
176295910122216574CA280779BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.550290.576940.444491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
177295912122216604CG280780BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.55036.0.444491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
178295913122217108GA280781BenignDyssegmental_Dysplasia|Schwartz_Jampel_syndrom...0.953790.986080.948081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
179138926124018277CG142629BenignDiamond-Blackfan_anemia0.983850.994630.976841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18092889124122986CT98796BenignUDPglucose-4-epimerase_deficiency|not_specified0.53492..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
181296841124128467CT281738BenignDeficiency_of_hydroxymethylglutaryl-CoA_lyase|.....0.883391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
182684182124134462CT657772Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18392602124134721TC98510BenignDeficiency_of_hydroxymethylglutaryl-CoA_lyase|...0.926270.90420.887381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
184673763124141011CT657752Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
185255488124143932AG249839Benignnot_specified0.92650.905280.887781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
186683937124180613CG657778Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
187683932124180623TC657780Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
188691124180962TC15730BenignFU1/FU2_POLYMORPHISM|Fucosidosis|not_provided.0.279120.211260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
189683990124181177CT657784Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
190683986124191720AG657770Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
191683925124192200AG657786Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
192296993125893927ATA280237BenignFamilial_hypercholesterolemia_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
193297006125894468CCTG281950BenignFamilial_hypercholesterolemia_1..0.903361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
194297011125894853GT282036BenignFamilial_hypercholesterolemia_1..0.571091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
195297021125895238CT280262BenignFamilial_hypercholesterolemia_1..0.569291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
196680991126126375AG657812Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
197669827126127425GA657800Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
198669828126128307CT657807Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19995963126131654GA101859BenignEichsfeld_type_congenital_muscular_dystrophy|n....0.814430.841850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
200680776126135913TC657744Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
201669830126136452AC657813Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
202261271126138136CA249869Benignnot_specified|not_provided0.68480.786130.747010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20395956126138262TC101852BenignEichsfeld_type_congenital_muscular_dystrophy|n...0.737170.813250.791930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
204669832126138451AG657821Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
205261274126139137CT249873Benignnot_specified|not_provided0.637140.794430.697680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
206669834126139392AG657829Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
207669835126139444GA657815Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20895959126140573CA101855BenignEichsfeld_type_congenital_muscular_dystrophy|n...0.631950.774730.697480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
209669836126141803GT657819Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
210297050126143821TC282081BenignSEPN1-Related_Disorders..0.762980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
211297053126143931TC280308BenignSEPN1-Related_Disorders..0.862220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
212297061126144437TCT280694Uncertain_significanceSEPN1-Related_Disorders...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
213297106126797654CT282168Likely_benignRetinitis_Pigmentosa,_Recessive..0.099640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
214635265129145188CT623097drug_responsebuprenorphine_response_-_Efficacy..0.459070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
215297151133245802CG282106BenignCharcot-Marie-Tooth_disease,_dominant_intermed...0.09880.098190.087460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
216670891133247797GT657853Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
217670337133251739TC657748Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
218670336133252887TC657861Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
219670889133256645GC657834Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
220670888133256884CA657841Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
221670335133276424GA657749Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
222297163133282775CA280382Benignnot_specified|Charcot-Marie-Tooth,_Intermediate0.09680.09760.085660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
223297175133283528GA280750BenignCharcot-Marie-Tooth,_Intermediate|not_provided..0.06030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
224297196135251229GA280761BenignErythrokeratodermia_variabilis_et_progressiva_.....0.403950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
225297204135251545GC282177BenignErythrokeratodermia_variabilis_et_progressiva_.....0.258191|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
226297210135251735GC282201BenignErythrokeratodermia_variabilis_et_progressiva_.....0.212861|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
227256790136937059AG249885Benignnot_specified0.608570.564810.592451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
228256789136937065AG249886Benignnot_specified0.299710.315610.246410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
229434837136939403CG427809Benign/Likely_benignnot_specified|not_provided0.003460.002990.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
230684263140319375CT656850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
231684262140319379TC656853Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
232297230140539076CT280445BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.667330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
233297233140539203AATGAT280826BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.614020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
234297234140539228GC282406BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.660740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
235297240140539448AC282423BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.661140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
236668044140555321CT657872Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237670733140557656GA657899Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238668040140558345TA657789Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239684006140558459GGGCATGTGAAAA657790Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240684001140558511AG657791Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
241297250140562993TC280858BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.832670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
242140502140722795GA150180not_providednot_provided..0.218050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
243140525140733658AG150203not_providednot_provided..0.222640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
244140535140737516TG150213Benignnot_specified|not_provided0.989850.985870.993211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
245140538140741899CT150216not_providednot_provided..0.913541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
246258399140773149TC249913BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.27810.303350.397360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
247683426140774194AC657914Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
248258392140776752CA249920BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.12271.0.178120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
249258387140777800TG249924Benignnot_specified0.27227.0.401560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
250258385140778377CT249927Benignnot_specified0.23773.0.37440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
251668734140781613TC657886Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
25245104141284366GC54271BenignDFNA_2_Nonsyndromic_Hearing_Loss|not_specified0.69170.675750.567491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
25345105141285087TC54272BenignDFNA_2_Nonsyndromic_Hearing_Loss|not_specified0.67630.651180.56331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
254402571141466803GA389436Benignnot_specified0.333230.40480.333070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
255402941141976328TC389395Benignnot_specified0.969070.988980.963061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
256402943141979156AG389444Benignnot_specified0.621670.668730.734430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257402944142046613GT389407Benignnot_specified0.18845.0.121210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258402945142046812CT389445Benignnot_specified0.978930.993440.977241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
259402946142049032GA389449Benignnot_specified0.954940.986810.949281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
260402947142049140CG389454Benignnot_specified0.955020.986850.949281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
261297335143200526TC280544BenignRenal_Hypomagnesemia,_Recessive..0.606831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
262194558143212431AG191721Likely_benignnot_specified..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
263674901143213499CT657889Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
264667664143213610TC657900Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
265667663143215571AG657995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
266667661143227867GA657824Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
267674899143228189TA657940Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
268674898143232807CG657944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
269297374143392250CG282346BenignDystonia|Glucose_transporter_type_1_deficiency.....0.383390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
27095414143395635CT101313BenignDystonia|Glucose_transporter_type_1_deficiency...0.15116.0.119610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
27195411143396414GA101310BenignDystonia|Glucose_transporter_type_1_deficiency...0.163920.190220.141370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
272670109143409179GT657948Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
273668836143424051AG657832Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
274297395143424812CG282361BenignDystonia|Glucose_transporter_type_1_deficiency.....0.142170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
275259760143812075GA249934Benignnot_specified0.329080.30320.209670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
276260613143886494CT249939BenignSeizures|not_specified|not_provided0.338860.319110.198080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
277260619143901011AC249945Benignnot_specified0.314090.320030.198880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
278260620143903589GT249946Benignnot_specified0.33577.0.211860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
279260623143906896AG249949BenignSeizures|not_specified|not_provided0.318390.318350.196290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
280260626143909265TC249952BenignSeizures|not_specified|not_provided0.331160.330960.221050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
281262909144386615AG249955Benignnot_specified0.850430.881290.809111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
282262910144395786CT249956Benignnot_specified0.595880.668380.518770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
283415448145292173GA391273BenignGorlin_syndrome0.016070.044040.06290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
284239554145294693CT238304Benignnot_provided0.001230.003580.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
285261222145362992TC249960Benignnot_specified0.661080.658860.791130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28695947145444038GA101843BenignLeukoencephalopathy_with_vanishing_white_matte...0.28410.258760.296530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
287297453145452227GC281149BenignLeukoencephalopathy_with_vanishing_white_matter..0.480630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
288439920145796269GC432989Benignnot_specified0.926250.924460.93530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
289257529145798555TC249965Benignnot_specified0.930260.925510.93710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
290297505145975300GA280720Likely_benignDisorders_of_Intracellular_Cobalamin_Metabolism..0.118411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
291167524146655158TC177974BenignMuscle_eye_brain_disease|not_specified0.941260.983840.942491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
292130004146658217CT135450Benignnot_specified|not_provided0.01230.009010.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2936724146870761CA21763BenignFAAH_POLYMORPHISM.0.233310.261580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
294297544147716040TAAT281229BenignPrimary_Microcephaly,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29594095147717189AG99995BenignPrimary_autosomal_recessive_microcephaly_7|not...0.40850.497870.393370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29694094147726087TC99994Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_7|not...0.282640.242060.178320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
297670142147729034TG657961Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
298160057147735280TC168006Benignnot_specified|not_provided0.40872.0.394370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
299673949147753405GA657936Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
300670465147765490TC657937Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
301670581147767141CA657855Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30221354147767914GA34206BenignPrimary_autosomal_recessive_microcephaly_7|not...0.593110.503450.606430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
303670580147770441AC657963Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
304670141147770786TA657859Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
305193357147882497CT190521Benignnot_specified0.313180.350950.278551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
306559025153453683CT549525Benignnot_provided0.310060.221980.402161/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
307559026153453714GT549526Benignnot_provided0.174380.08720.191490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
308683619153666108TC657968Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
309680257153675532TC657867Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31092429153676448GA39074BenignCarnitine_palmitoyltransferase_II_deficiency|n...0.456410.484130.413140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
311460427153679096TC448240Conflicting_interpretations_of_pathogenicitynot_provided0.003310.002350.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
312368876153679878TC353105BenignCarnitine_palmitoyltransferase_II_deficiency..0.228240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3136996153712727CT22035risk_factorMyocardial_infarction_1.0.295290.144370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
314735250153727885GA743758Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
315297612155315351TC281322BenignDesmosterolosis..0.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
316297621155315941GT282895Likely_benignDesmosterolosis..0.010180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
317297623155316082AC282901BenignDesmosterolosis..0.983231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318297654155319902AG281388BenignDesmosterolosis0.666150.665060.62761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319297656155330966TC282617BenignDesmosterolosis0.987930.996840.988621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320297673155464743TC280880BenignBartter_syndrome..0.594051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321297674155464790CG281402BenignBartter_syndrome..0.595051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32246553155474262GA55718Benign/Likely_benignBartter_syndrome|Bartter_syndrome_type_4|not_s...0.199680.158610.116011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323297681155474325AC282935BenignBartter_syndrome0.44649.0.362421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324368877155474476CG353106BenignBartter_syndrome..0.429911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325440703155504650GA434132BenignFamilial_hypercholesterolemia_1..0.601441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32636666155505447CT45327Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob.....0.093850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32736669155505668CT45330Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.09582.0.091250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328262904155505732AG249984Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.911640.936990.908551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329440710155505926CT434139BenignFamilial_hypercholesterolemia_1..0.093450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330265925155518166GA260601BenignFamilial_hypercholesterolemia_1..0.549321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331265928155518190ACA260605Uncertain_significanceFamilial_hypercholesterolemia_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
332265929155518198CA260604BenignFamilial_hypercholesterolemia_1..0.138581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
333262908155518467AG249988Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.504150.431150.466251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
334262899155523033AG249989Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia_1|Familial_hypob...0.97970.994540.981831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
335265943155524116CT260619BenignFamilial_hypercholesterolemia_1..0.869210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
336201126155524197AG196755Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.817780.85440.869210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
337201124155524237GA196757Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.817780.854440.869011/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33836670155529187GA45331Benign/Likely_benignFamilial_hypercholesterolemia_1|Familial_hypob...0.889440.943280.898961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
339770847155643658TC696804Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34017039157340727CA32078BenignCOMPLEMENT_COMPONENT_8,_ALPHA_SUBUNIT,_A/B_POL...0.320930.368380.343650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
341297752159041220CT282697BenignCorneal_Dystrophy,_Dominant/Recessive..0.256990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
342297754159041436TC282703Likely_benignCorneal_Dystrophy,_Dominant/Recessive..0.104630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
343297756159041577AG281504BenignCorneal_Dystrophy,_Dominant/Recessive..0.412940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
344297763159041809CT282981Likely_benignCorneal_Dystrophy,_Dominant/Recessive0.085.0.053910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
345297769159042311TG280967Likely_benignCorneal_Dystrophy,_Dominant/Recessive0.12250.097210.104030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
346297778159042997CT282741Likely_benignCorneal_Dystrophy,_Dominant/Recessive..0.104030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
347770850161872228CT777132Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
348585796162976259CT576551Likely_benignnot_provided0.000150.00032.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34995531163881552CT101430Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.7370.751430.830470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
350297858163903452TC280998BenignCongenital_disorder_of_glycosylation..0.68470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
351676174164059644CG657878Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
352297871164095111AG282807Benign/Likely_benignCongenital_disorder_of_glycosylation|Congenita...0.174460.130430.129791|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
353676177164095862GA657978Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
354297874164097432CT283126Benign/Likely_benignCongenital_disorder_of_glycosylation|Congenita...0.223130.24280.241410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
355558803164100478AT549534Benignnot_provided0.42350.414110.50020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
356676178164102114AG657879Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
357474681165849887GA448350BenignParkinson_disease_19a,_juvenile-onset0.018760.021450.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
358297982165886398TC282919BenignLeptin_receptor_deficiency|Monogenic_Non-Syndr...0.441840.551540.567890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
359487357166036501GT480430BenignLeptin_receptor_deficiency0.999460.9999111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
360298000166102257GA282947BenignLeptin_receptor_deficiency|not_specified|Monog...0.40750.452620.529750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
361298008166103042AACA281762BenignLeptin_receptor_deficiency|Monogenic_Non-Syndr......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
362298009166103101TC281763Uncertain_significanceLeptin_receptor_deficiency|Monogenic_Non-Syndr.....0.00160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
363298027170876959AT281783Likely_benignCystathioninuria..0.032350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
364676188176190569CG658055Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
365254691176194054CG250014Benignnot_specified0.25350.250610.182911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
366226050176194229GTG227862BenignMedium-chain_acyl-coenzyme_A_dehydrogenase_def......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36792259176198436TC98170Benign/Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_def...0.31760.274040.231231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
368676189176198785GA658062Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
369254689176199345CG250015Benignnot_specified0.317390.273660.231031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
370254690176205643CA250016Benignnot_specified0.258940.286080.19011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37192254176227022AG98165Benign/Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_def...0.249960.233350.174321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
372298078176229120TC281831Likely_benignMedium-chain_acyl-coenzyme_A_dehydrogenase_def.....0.098241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373298081176229326TC281218BenignMedium-chain_acyl-coenzyme_A_dehydrogenase_def.....0.691691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374402356177763542GA389423Benignnot_specified0.983930.995530.978831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375402357177883412CT389425Benignnot_specified0.129370.138260.12540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376402358178024284TC389472Benignnot_specified0.716820.746190.68530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
377402359178024345CCTAT390495Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
378671176178383467GA658068Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
379683664178392867CT658080Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
380298100178408922CAC281853Uncertain_significanceHypertrophic_cardiomyopathy|Dilated_Cardiomyop......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
381225991178956432TC227744drug_responselatanoprost_response_-_Efficacy..0.782351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
382722691185462511CT732625Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
383298125192711972CG281871BenignGlomuvenous_malformations..0.616011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
384298167192940850GT281285BenignSevere_congenital_neutropenia..0.158150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
385298175192941357AG283194BenignSevere_congenital_neutropenia..0.808311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
386259698192944188GA250019Benign/Likely_benignSevere_congenital_neutropenia|Severe_congenita...0.014530.013570.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
387211078192946479GA206837BenignSevere_congenital_neutropenia|not_specified0.851880.888340.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
388402836192979354AG389473Benignnot_specified0.838380.851970.920331|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
389402838193089823TC389434Benignnot_specified0.913190.921580.949081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
390402839193160902TC389440Benignnot_specified0.912960.921580.950281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
391298213193306317GA283380BenignDiamond-Blackfan_anemia0.569060.6770.691891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
392136235194471075AG139938BenignMacular_degeneration|not_specified|Cone-Rod_Dy...0.775720.889380.769971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
393678762194474020GA658099Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
39499396194476388CG105285Benign/Likely_benignMacular_degeneration|not_specified|Cone-Rod_Dy...0.249270.219670.200680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
39599390194476467TA105279Conflicting_interpretations_of_pathogenicityMacular_degeneration|Stargardt_disease_1|Starg...0.047750.044560.020770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
39699389194476555GA105278not_providednot_provided..0.691490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
397680456194477232TG658070Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
398678761194480439TC657925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
399680455194480529AC657991Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
400255923194487285AACA250031BenignMacular_degeneration|not_specified|Cone-Rod_Dy......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
401678759194495816TC658078Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
402678756194509226GT657938Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
403680452194525623AG658079Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40499079194528363CT104968not_providednot_provided..0.37360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
405193579194544135AAC190742BenignMacular_degeneration|not_specified|Cone-Rod_Dy......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40699037194544276GA104927BenignMacular_degeneration|not_specified|Cone-Rod_Dy...0.465480.481440.514781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407680451194566683TC658087Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408166618194578548TC177452Benignnot_specified0.9877.0.987021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
409258821194930345GA250040Benignnot_specified|not_provided0.372210.392330.279950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
410298277197544258AG283459Likely_benignDihydropyrimidine_dehydrogenase_deficiency..0.106830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
411100080197770920CT105957Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency|not...0.041370.046470.043930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
412100086197847874TC105963not_providednot_provided..0.226640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
413100092197981395TC105969Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency|not...0.183610.192960.18490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
414100103198039541AG105980Benign/Likely_benignDihydropyrimidine_dehydrogenase_deficiency|not...0.094820.104580.06370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
415100105198060481AC105982not_providednot_provided..0.109230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
416100123198348885GA106000BenignDihydropyrimidine_dehydrogenase_deficiency|not....0.765170.739821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4176760911100316765CT658089Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4182567501100327026CT250042Benignnot_specified0.241810.196230.227240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4196827101100328272GA657959Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4206760921100329889GC658003Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4216760941100330237AG658006Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4226779431100330295TC657960Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4236792831100335788AG658096Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4241984321100336361CT195593BenignGlycogen_storage_disease_type_III|not_specifie...0.767110.721410.762580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4252567511100340225GA250046Benignnot_specified|not_provided0.748310.731420.743410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4266800371100347463CA658117Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4272567301100353675GA250058BenignGlycogen_storage_disease_type_III|not_specifie...0.654850.689760.681110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4282567341100358103CT250062Benign/Likely_benignGlycogen_storage_disease_type_III|not_specifie...0.139470.136130.110620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4292567351100358200GA250063Benignnot_specified|not_provided0.654950.69120.681510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4306827271100358451GA658121Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4316800381100362180GA658125Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4326800391100377789CT658124Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4332913591100387939CT283552BenignGlycogen_storage_disease_type_III..0.590450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4342913951100655583TA275557BenignMaple_syrup_urine_disease..0.766771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4352913961100655695TAAT275589Uncertain_significanceMaple_syrup_urine_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4362914041100656265CT275613BenignMaple_syrup_urine_disease..0.800721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4372914071100656661TC275571BenignMaple_syrup_urine_disease..0.769571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4382914241100658578GA275625BenignMaple_syrup_urine_disease..0.769571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4391288851100672060TC134332BenignMaple_syrup_urine_disease|not_specified.0.913770.891771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4406812211100673032AG656866Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4416812201100683906GT656835Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4426812191100695989AC656873Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4437763391100740485TC695917Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4446829651100819273TC656814Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4452914771103342392TC275622BenignMarshall_syndrome|Fibrochondrogenesis_1|Stickl.....0.224440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4466812091103345744CG656841Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4476812081103348460AT656816Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4486812071103352076CT656844Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4492584701103352451AG249270BenignMarshall_syndrome|Fibrochondrogenesis_1|not_sp...0.448410.580150.484630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4502584671103354115TC249273Benignnot_specified0.12840.135420.173521|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
451171371103354138AG32176BenignMarshall_syndrome|Lumbar_disc_herniation,_susc...0.807010.794160.782950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4522584661103354428AG249274BenignMarshall_syndrome|Fibrochondrogenesis_1|not_sp...0.622940.723870.62260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4532584651103356107AG249275Benignnot_specified0.12328.0.173720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4546812031103379548AG656837Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4552584611103379918GA249279BenignMarshall_syndrome|Fibrochondrogenesis_1|not_sp...0.451720.591550.496610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4565161771103380379TTA497941Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4576812011103386485TC656854Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4586812001103386807CT656865Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4596811991103404323AG656867Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4606811981103404936AT656895Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4616747561103428389GA656897Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4622584451103444679TG249292Benignnot_specified0.551670.691250.629191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4636747551103449598GC656882Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4646747541103455217CT656884Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4652584431103461508TA249294Benignnot_specified|not_provided0.905480.953640.923921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4666747521103463976GT656887Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4676811971103464210TC656893Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4686747511103467615CT656896Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4696747501103483514CT656903Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4706747491103496620GT656905Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4712188281103496805GAG215177Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4722584501103548319CG249303Benignnot_specified|not_provided0.456250.59180.576281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4736747471103573547GA656914Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4746813601109446045CG656944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4756817821109456850GA656975Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4766833181109460963CT656976Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4772266491109465165ACTTA228257Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4786817841109466858GA656980Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4792917111109472773GA276041Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.368210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4802917141109473017CT276043Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.207070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4812597441110148974CT249359BenignAchromatopsia|not_specified0.330620.449040.378590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4826771691111661413TC656955Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4836835501112319388AG656981Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4846820431112321322TC656919Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4856838891112329296GA656983Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4862918271113454571AG276274Likely_benignHyperinsulinism,_Dominant..0.247010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4872918311113455099GA276277Likely_benignHyperinsulinism,_Dominant..0.675521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4881303151113456546AT135762Benign/Likely_benignnot_specified|Hyperinsulinism,_Dominant0.666230.597210.676721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4892604431113659065ACTA249366Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4907692391114372332TAT777012Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49189101114415368GC23949risk_factorDiabetes_mellitus,_insulin-dependent,_suscepti.....0.747011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4921577181114438951AG167566BenignHistory_of_neurodevelopmental_disorder|Spastic...0.437950.318640.3770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4933807671114447565GA364302Benignnot_specified..0.329470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4942919461115247749TAT275943Likely_benignNoonan_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4952919671115249843GA276416Likely_benignNoonan_syndrome..0.150960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4965618211115252609GC552484Benignnot_provided..0.87640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4972566401115576023AG249367BenignCongenital_hypothyroidism|Secondary_hypothyroi...0.975240.970660.983631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4982919931115829313GA276307BenignCongenital_sensory_neuropathy_with_selective_l...0.369140.365570.24740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4996676721115881055GA656988Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5002920051116206423GA276198Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome0.12410.14210.115021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5012920171116234217CT276462Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.066690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5022920181116234300CT276201Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.066690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5032920201116234313AG276202Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.739421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5042920251116234505AG276336Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.739421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5052920271116234694CA276337Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.06530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5062920521116236351TG276395Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.442091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5072920541116236489CT276234Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.073080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5082920571116236581GA276235Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.102440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5092920661116237417CT276023Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.073280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5102920671116237496TA276398Likely_benignNeural_tube_defect|Caudal_dysgenesis_syndrome..0.337660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5112920751116238478CT276248Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.44011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5122920761116238504CT276408Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.175521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5132920841116239266CT276527Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.175321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5142920881116239368GA276533Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.423321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5152920951116239751AG276037Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.43751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5162920971116239841AT276256Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.423121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5172921011116239995AT276450Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.423121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5182921061116240212CT276480Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.175721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5192921071116240321TG276262Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.072280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5202921121116240721AG276263Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.102241|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5212921131116240756TTC276264Likely_benignNeural_tube_defect|Catecholaminergic_polymorph......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5222921181116242844ATA276578Likely_benignNeural_tube_defect|Catecholaminergic_polymorph......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5232921201116243230CG276271Benign/Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.717851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5242921221116243380GA276272Benign/Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.700881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5252921241116243724AG276056Likely_benignNeural_tube_defect|Catecholaminergic_polymorph.....0.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
526441571116243877GA53325Benign/Likely_benignNeural_tube_defect|Catecholaminergic_polymorph...0.387980.383790.425721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5276721861116245809CT656936Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5286832951116245899TC656990Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5296832941116247535GC656992Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5306832931116247557CG656993Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5312576531116247790GA249368Benignnot_specified0.40120.348620.428710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5322576521116260532AT249369BenignVentricular_tachycardia,_catecholaminergic_pol...0.59926.0.642770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5336720651116260604GA656948Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5346717421116268283CT657041Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5356832921116269331CA657044Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
536441631116283343AG53331BenignCatecholaminergic_polymorphic_ventricular_tach...0.708440.787170.643571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5376717411116283526GA656994Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5386720641116283625AG657011Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5396784551116283699AG656996Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5406832911116283747TC657015Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5416720631116287682TC657016Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5422922991120254506AG276862BenignPhosphoglycerate_dehydrogenase_deficiency..0.698280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5432923001120254545GC276166BenignPhosphoglycerate_dehydrogenase_deficiency..0.817490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5442923061120263780TC276179Likely_benignPhosphoglycerate_dehydrogenase_deficiency0.014380.004970.018770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5452923211120285546GA276452BenignPhosphoglycerate_dehydrogenase_deficiency|not_...0.706060.692410.722240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5462923261120291471TAAACT276923Uncertain_significancemitochondrial_3-hydroxy-3-methylglutaryl-CoA_s......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5476841881120293748TG657050Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5486841831120307515CG657022Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5492617021120480583GA249380BenignHajdu-Cheney_syndrome|not_specified0.071510.022180.071090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5507695271144921924GA696066Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5517692431144922523CT696065Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5524032941144923728GTG390579Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5537676941144923823TAGGAAGAAACGGCAT776998Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5542924411147229662GA276310Likely_benignFamilial_atrial_fibrillation..0.067491|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5552924561147245383TC276317Likely_benignFamilial_atrial_fibrillation..0.18830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5563688281147245474GC353057Likely_benignFamilial_atrial_fibrillation..0.974841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5573688291147245497CT353058Likely_benignFamilial_atrial_fibrillation..0.18830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5586808011150460168AG657024Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5596808031150462811CT657029Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5606808051150464603AG657075Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5616764281150470322CA657069Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5623811751150471157TA364442Benignnot_specified0.023450.040550.046330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5636808061150476516GA657030Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5646764291150477061CT657083Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5652610761150531008TC249390BenignEctopia_lentis|Ectopia_lentis_et_pupillae|not_...0.867520.906690.81451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5662610771150531050GA249391BenignEctopia_lentis|Ectopia_lentis_et_pupillae|not_...0.843530.867570.87841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5675170111150531170CT498023Benignnot_specified0.915960.976770.921531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5682926001151313774AG276632BenignBare_lymphocyte_syndrome_2..0.6281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5692926051151314379TC276401BenignBare_lymphocyte_syndrome_2..0.764381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5702926121151315287GC277245Benign/Likely_benignBare_lymphocyte_syndrome_2|not_specified0.118870.118750.06351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5714033731151316161GA389326Benignnot_specified0.975240.993350.978041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5724028681152282684GA389322Benignnot_specified0.029520.030660.012980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5732926251154134557AC277165BenignNemaline_myopathy|Congenital_fiber-type_dispro.....0.321490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5742926521154136657GT277319Uncertain_significanceNemaline_myopathy|Congenital_fiber-type_dispro.....0.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5752926661154138228GA277341BenignNemaline_myopathy|Congenital_fiber-type_dispro.....0.320090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5762926771154139165CCT277239BenignNemaline_myopathy|Congenital_fiber-type_dispro......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5772926821154139381AC276481BenignNemaline_myopathy|Congenital_fiber-type_dispro.....0.322880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5782626271154141908AG249393Benignnot_specified|not_provided0.602180.607670.732230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5792599171154245917TC249399Benign/Likely_benignSevere_congenital_neutropenia|not_specified0.099190.11360.075280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
580146601154426970AC29699associationInterleukin_6,_serum_level_of,_quantitative_tr....0.375620.293131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5812927131154554951AAGGGGCATG277338Uncertain_significanceSymmetrical_dyschromatosis_of_extremities...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5822927171154555492TC276509BenignSymmetrical_dyschromatosis_of_extremities..0.598041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5832927211154555733AT276511BenignSymmetrical_dyschromatosis_of_extremities..0.194690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5842927291154556266GA277418BenignSymmetrical_dyschromatosis_of_extremities..0.597841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5852927341154556425GA276770BenignSymmetrical_dyschromatosis_of_extremities..0.394971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5862927401154556663GA277437BenignSymmetrical_dyschromatosis_of_extremities..0.396171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5872574751154557685CT249407BenignSymmetrical_dyschromatosis_of_extremities|not_...0.40320.4630.388781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5881951121154573967TC192273BenignSymmetrical_dyschromatosis_of_extremities|not_...0.607870.695610.62261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5895003351154574820TC491759Benignnot_specified0.995690.998760.996211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5902574761154575040CT249409BenignSymmetrical_dyschromatosis_of_extremities|not_...0.997160.999160.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5914030011154744807CG,T389335Benignnot_specified0.58158.0.535341|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
5924030021154744852AG389312Benignnot_specified0.705140.761570.779151|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5932568711155205669GT249411Benignnot_specified|not_provided.0.984230.94091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5941815191155870416GA178910Benignnot_specified|not_provided0.79340.877190.779751|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5955614951155873960AG552490Benignnot_provided..0.850241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5962270471155880573CG228267Benignnot_specified|not_provided0.795250.877460.779951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5975614031155880952GA552497Benignnot_provided..0.356231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5986743101156011444TC655043Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5996836221156085375TC657048Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6006689221156095648TC657087Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6016836131156095712TC657090Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6026727511156095756CT657094Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6036727521156095848CT657095Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6046727781156096387GA657102Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6056727791156096417TG657096Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6066727801156096873TC657112Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6076727811156096919GA657110Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6081921901156099669TG189381BenignHutchinson-Gilford_syndrome|not_specified0.187540.163010.197680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6096689231156100139TC657104Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6106727821156100739TC657111Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6116836141156100838CG657115Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6126727831156103997AC657051Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
613480711156104292GA57235Benign/Likely_benignCardiomyopathy|Hutchinson-Gilford_syndrome|Cha...0.005690.009720.007991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
614480881156105028TC57252BenignCardiomyopathy|Hutchinson-Gilford_syndrome|Cha...0.197830.109430.193090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6156830611156105337CT657105Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
616364741156105928GA45136Benign/Likely_benignPrimary_dilated_cardiomyopathy|not_specified|n...0.197520.107650.192290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
617480371156106185TC57201BenignCardiomyopathy|Hutchinson-Gilford_syndrome|Cha...0.25412.0.24920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6186727841156106369GA657120Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
619668341156106863CT77731Benignnot_specified|not_provided0.18730.106370.182310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6206836151156108019CT657114Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6216830621156108048TC657123Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
622667561156108976GC77653not_providednot_provided0.17674.0.18530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6232615761156146218CT249423Benignnot_specified|Cone-Rod_Dystrophy,_Recessive|Re...0.531760.527250.430910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62433621156146640GA18401Benign/Likely_benignRetinitis_pigmentosa_35|not_specified|Cone-Rod...0.034680.035410.021771|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6256677361156785356TC657124Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6263808531156785617GA364541Benignnot_specified0.617720.667410.636981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6276677671156785771AG657128Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6286677681156785779GA657107Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6296677381156838141TC657082Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6306677411156841259AC657129Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6316677431156841674GA657131Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6326677631156848794CT657109Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6336677641156848808TC657091Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6342928911156848909CAC277584Benign/Likely_benignHereditary_insensitivity_to_pain_with_anhidros...0.06670.06250.089261|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6351385641156848995CT142267BenignHereditary_insensitivity_to_pain_with_anhidros...0.556830.572360.334070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6361385651156849775TC142268Benignnot_specified0.111330.064090.12240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6376677651156850104GC657121Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6386677661156850112TG657130Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6396705561156851041TG657097Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6402929171158580553TAT277518Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|S......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6412929201158580759GA276935Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|S.....0.503990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6422589581158582646TC249424Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.509480.538490.504790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6432589571158584091AG249425Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.506810.537350.506190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6442929471158584103GGAA276686Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6452589551158587390CT249427Conflicting_interpretations_of_pathogenicityElliptocytosis|Hereditary_pyropoikilocytosis|n...0.48524.0.491010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6462589431158607935TG249439Conflicting_interpretations_of_pathogenicityElliptocytosis|Hereditary_pyropoikilocytosis|n...0.218360.273680.245610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6472589421158612236AG249440Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.59956.0.594050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6482589301158618455GA249450Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.203330.253390.228240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6492589291158619728AC249451Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.993970.998260.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6502589261158626378CT249454Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.386960.309270.423520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6512589221158631171AC249458Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.22536.0.243610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6522930281158637865GAAAG276726Uncertain_significanceElliptocytosis|Hereditary_pyropoikilocytosis|S......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6532589171158644105TA249462Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.327120.399910.354230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6542589621158647495AT249465Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.958050.984970.956871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6552589611158647522AG249466Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.477730.544910.453870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6562589591158647631TA249468Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.958110.984940.956871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6572589161158655036GA249471Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.973190.991970.969851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6582589201158656281TC249472Benign/Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|n...0.973130.991950.969851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6592930661158656432GGA277611Likely_benignElliptocytosis|Hereditary_pyropoikilocytosis|S......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6602930901160009121AC276775Likely_benignPendred_syndrome|Seizures,_Sensorineural_Deafn.....0.481031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6612930911160009143GC277643BenignPendred_syndrome|Seizures,_Sensorineural_Deafn.....0.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6622931021160009419AC276778BenignPendred_syndrome|Seizures,_Sensorineural_Deafn.....0.862821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6636680001160085281AT657100Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6646782001160085868AC657103Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6656680171160085955AC657133Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6666707391160090674TC657139Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6671667051160090681CCCTTC177497BenignFamilial_hemiplegic_migraine|Alternating_hemip......1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6686689751160091346GA657142Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6691971631160093222CT194324Benignnot_specified0.949410.984910.942491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6706707401160093911TC657155Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6716747171160093942GA657126Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6726780761160094458AG657135Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6736680181160094644AG657106Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6746707551160095127TA657134Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6756707561160097666GA657116Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6761284771160098543GA133926BenignFamilial_hemiplegic_migraine|Alternating_hemip...0.19245.0.209671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6776713401160110812CT657187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6782931471160111701GC277097Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.208871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6792931601160112138AG277810Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.212461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6802931621160112207TA277121Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.212461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6812931751160112594CAC276850BenignFamilial_hemiplegic_migraine|Alternating_hemip......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6822931791160112741TC277817Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.212861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6832931891160113371TA277710Likely_benignFamilial_hemiplegic_migraine|Alternating_hemip.....0.217851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6842931961160247185GC277712BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.564150.452281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68548951160807715TC19934risk_factorRheumatoid_arthritis..0.56151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6862932381161136224CA277167Likely_benignVariegate_porphyria..0.359230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6872932441161136343CG277833Likely_benignVariegate_porphyria..0.021770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6886711381161178684TC657138Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6891296971161182208CG135143Likely_benignMitochondrial_complex_I_deficiency|not_specifi...0.068660.078440.049320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6906780421161182484AG657160Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6912932921161192316GA277897Likely_benignApolipoprotein_A-II_deficiency0.082190.113520.103040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6921977721161202605GA194933Benignnot_specified0.269870.353430.336260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6932933041161274905TC277907BenignRoussy-Lévy_syndrome|Charcot-Marie-Tooth_disea.....0.136381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6946831891161276434AG657140Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6956676461161279518TC657151Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6966831881161279882AG657168Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
697148231161479745AG29862drug_responseLupus_nephritis,_susceptibility_to|Pseudomonas....0.47910.441690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6982426851161599693TC45587Benignnot_provided.0.588730.532951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6998015681161751741AG789872BenignAchromatopsia_7...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7008015721161823011TA789876BenignAchromatopsia_7...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7012599361162722846CG249489Benignnot_specified0.973010.992350.970451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7022599301162740327TC249493Benignnot_specified0.94756.0.945491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7032599321162743418GT249495Benignnot_specified0.99477.0.992411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7042933881162750210CTTC278133BenignSpondyloepimetaphyseal_dysplasia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7057677241167871297GGA777031Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7062525761168105581AAG246866Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7072934811168282261TA277084BenignAdrenocorticotropic_hormone_deficiency0.45639.0.489420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7082934971168283158AAAAGA277351BenignAdrenocorticotropic_hormone_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7092935201169435027CT278187BenignThiamine-responsive_megaloblastic_anemia|Megal.....0.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7106838541169446183AG657157Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7116838501169455435GC657162Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7122935411169481223CG278256Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_.....0.912341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7132935461169481950GA277166Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_.....0.275560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7142935541169482436GA278264Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_.....0.477440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7152552111169498834TC249500Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.916350.932570.93631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7162552101169498975TC249501Conflicting_interpretations_of_pathogenicityThrombophilia_due_to_activated_protein_C_resis...0.289410.335060.308710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7172552081169510233GA249503Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.329080.295820.182110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7182552021169511555TC249507Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.24350.273660.262780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7192552011169511734TC249508Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.243730.273770.262780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7202552001169511755TC249509Conflicting_interpretations_of_pathogenicityThrombophilia_due_to_activated_protein_C_resis...0.243580.276840.266770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7212551961169512027TC249512Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.243580.273650.262780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7222551941169512093AG249514Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.24350.273680.262780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7232551931169512120GA249515Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.243580.273610.262780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7242260071169519049TC227743drug_responsehormonal_contraceptives_for_systemic_use_respo....0.97850.994011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7252551971169551682TC249526Benign/Likely_benignBudd-Chiari_syndrome|Venous_thrombosis|Factor_...0.205410.313540.226440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
726135271169563951TG28566BenignSELECTIN_P_POLYMORPHISM.0.082080.035940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7272626291170521376GA249533BenignGeroderma_osteodysplastica|not_specified0.48585.0.592650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7282600741171077198GA249539Benignnot_specified0.546440.504850.538540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7292600761171077372CG249541BenignTrimethylaminuria|not_specified0.2332.0.198880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
730163051171080080GA31344Benign/Likely_benignTrimethylaminuria|not_specified.0.080520.097640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7317677261171178257CCT696269Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7322937091171605539AG277613Benign/Likely_benignGlaucoma|Primary_open_angle_glaucoma|not_speci...0.02184.0.012180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7335954951172411496AG586557Benignnot_specified0.853760.87470.924120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7346837031173807157CT657200Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7352244861179519880TC226216BenignSteroid-resistant_nephrotic_syndrome|Nephrotic.....0.901761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7362244851179520050TC226217Likely_benignSteroid-resistant_nephrotic_syndrome|Nephrotic.....0.283150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7372244831179520151CT226219BenignSteroid-resistant_nephrotic_syndrome|Nephrotic.....0.905151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7382938451179520254CG278562Likely_benignSteroid-resistant_nephrotic_syndrome..0.587861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7392604321179520506GA249553Benign/Likely_benignSteroid-resistant_nephrotic_syndrome|Nephrotic...0.61718.0.587661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7402604241179544898TC249559BenignSteroid-resistant_nephrotic_syndrome|Nephrotic...0.966320.961570.930911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7412251441179545050CA227036Likely_benignSteroid-resistant_nephrotic_syndrome|Nephrotic...0.193140.365380.183311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7422576991179852074TC249561Benignnot_specified0.5692.0.608831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7432577011179858444GA249563Conflicting_interpretations_of_pathogenicityMuscular_dystrophy,_limb-girdle,_type_2y|not_s...0.583060.646590.635381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7442577031179876988CG249565Benignnot_specified0.54021.0.584061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7452576981179887125GA249568Benignnot_specified0.92750.94850.918531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7462938661180240510TC278580Likely_benignCombined_Pituitary_Hormone_Deficiency,_Dominant0.059050.06650.041330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7472622251180243524AG249572BenignPituitary_hormone_deficiency,_combined_4|not_s...0.410660.485020.426320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7482938821182350896CG277506BenignGlutamine_deficiency,_congenital..0.675720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7492938911182351233GA277529BenignGlutamine_deficiency,_congenital..0.713460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7502938931182351422AG278611BenignGlutamine_deficiency,_congenital..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7512939021182351627TA277558BenignGlutamine_deficiency,_congenital..0.854631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7522939031182351630TTAAATGA277731BenignGlutamine_deficiency,_congenital...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7532939251182352621TC277624BenignGlutamine_deficiency,_congenital..0.670330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7542939341182353198AT278734BenignGlutamine_deficiency,_congenital..0.675720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7552939491182356399AG277633BenignGlutamine_deficiency,_congenital0.59050.574810.675720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7562939501182359678CA277634Likely_benignGlutamine_deficiency,_congenital..0.010981|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7572939621182360843CG278664BenignGlutamine_deficiency,_congenital..0.857431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7582939661182360930AG278773BenignGlutamine_deficiency,_congenital..0.856631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7592939711182361162CG277777Likely_benignGlutamine_deficiency,_congenital..0.093250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7602939831183155482CA278713BenignEpidermolysis_bullosa,_junctional0.221820.37990.274760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7612597851183177218AG249573BenignEpidermolysis_bullosa,_junctional|not_specified0.447490.473860.496210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7622941551185984517TC277933Likely_benignMacular_degeneration0.346430.427090.343050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7632941831186026474TC277951Benign/Likely_benignMacular_degeneration|Age-related_macular_degen...0.525370.53890.529950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7642941861186031041CT278860Likely_benignMacular_degeneration0.62840.597970.654350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
765962081186050417AG102102Benign/Likely_benignMacular_degeneration|Age-related_macular_degen...0.554980.545280.582670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7662942011186055371AG278898Likely_benignMacular_degeneration0.628110.578320.661340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7672942311186086578GA279089Likely_benignMacular_degeneration0.63263.0.675520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7682943231186159684CT278073Likely_benignMacular_degeneration..0.183310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7695183091186273994CT508763BenignCamptodactyly_arthropathy_coxa_vara_pericardit...0.296480.3050.231631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7705183111186277989AG508765BenignCamptodactyly_arthropathy_coxa_vara_pericardit...0.284640.301590.221251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7716923031186280235GA680086Uncertain_significanceFetal_akinesia_sequence|Arthrogryposis_multipl......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7726768071193202001CG657203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7732944291193220974GGT279150Uncertain_significanceParathyroid_carcinoma|Hyperparathyroidism_2|Is......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7742944881196654324AC279197BenignMacular_degeneration|Mesangiocapillary_glomeru...0.60810.666620.713060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7752944901196659237CT278205BenignMacular_degeneration|Mesangiocapillary_glomeru....0.672070.733430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7762944981196695742AG278184BenignMacular_degeneration|Mesangiocapillary_glomeru...0.136940.194740.202880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7772945091196709774GT278188BenignMacular_degeneration|Mesangiocapillary_glomeru...0.138010.195480.203280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7787782401196759282CT696347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7792945621196978615TG278235BenignMesangiocapillary_glomerulonephritis,_type_II..0.277761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7802945661197008365CT278241Likely_benignFactor_XIII_subunit_B_deficiency..0.228440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7812585041197009798AG249586BenignFactor_XIII_subunit_B_deficiency|not_specified0.388610.527010.524960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7822945861197030087CT279299Uncertain_significanceFactor_XIII_subunit_B_deficiency0.005840.007690.003390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7832585051197030201TC249588BenignFactor_XIII_subunit_B_deficiency|not_specified0.756150.880520.783751|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784165201197031021CT31559BenignFactor_XIII_subunit_B_deficiency|Venous_thromb....0.871970.761781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7852945911197053373GA278274BenignPrimary_Microcephaly,_Recessive..0.782351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7866780551197055782TC657204Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7871577751197055925TC167622BenignPrimary_autosomal_recessive_microcephaly_5|not...0.755120.878630.782751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7886739241197059878GA657210Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7896739231197059892AG657173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7906739221197059928AG657196Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7916688751197060783AT657198Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7921579021197063352CT167749Benignnot_specified|not_provided0.313250.348060.214260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7936679991197064826AG657205Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7946780541197064897TTGTA657208Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
795216111197070442GT34463BenignPrimary_autosomal_recessive_microcephaly_5|not...0.3229.0.214260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
796216051197070697TC34457BenignPrimary_autosomal_recessive_microcephaly_5|not...0.321080.340890.214260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
797216041197070707GA34456BenignPrimary_autosomal_recessive_microcephaly_5|not...0.32172.0.214260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
798216021197070815TC34454BenignPrimary_autosomal_recessive_microcephaly_5|not...0.786920.887560.81591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
799215991197070901AG34451BenignPrimary_autosomal_recessive_microcephaly_5|not...0.995690.99560.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
800215931197072420TC34445BenignPrimary_autosomal_recessive_microcephaly_5|not...0.321330.340780.213060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
801215861197073932TC34438BenignPrimary_autosomal_recessive_microcephaly_5|not...0.322370.343890.214460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8026739111197086669CT657216Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
803215781197091537AT34430BenignPrimary_autosomal_recessive_microcephaly_5|not...0.754730.877880.782551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8046781941197091808TC657220Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8056704231197093098AT657224Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
806215731197094030CT34425Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_5|not...0.263530.280110.216650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8076780531197098143GC657214Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8086679981197099485AG657225Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8096739101197101303CA657215Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8106780511197102839AC657227Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8116781901197102926CT657238Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8126739091197103975GA657219Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8136780501197108693CT657234Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8141577881197109042CT167635Benignnot_specified|not_provided0.75550.877880.782551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
815958901197112533GA101786BenignPrimary_autosomal_recessive_microcephaly_5|not...0.730780.869780.755591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
816958881197113073GA101784Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_5|not...0.730240.870380.755591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
817966601197297540AT102553BenignLeber_congenital_amaurosis|Pigmented_paravenou...0.286570.445710.403161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8182632601197316435TC249591Benignnot_specified0.830850.818410.839260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8191669561197390368AG177648Benignnot_specified0.921040.978060.919731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8204277521198776931CA417641PathogenicAcute_myeloid_leukemia_with_maturation..0.477240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8214277531198796120CT417642PathogenicAcute_myeloid_leukemia_with_maturation..0.518371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8224277541198867678GT417643PathogenicAcute_myeloid_leukemia_with_maturation..0.795731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8234277551198868084GA417644PathogenicAcute_myeloid_leukemia_with_maturation..0.795531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8244277561198869514TC417645PathogenicAcute_myeloid_leukemia_with_maturation..0.820091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8257677401200880978CT696372Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8266782411201009897TC657244Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8271996801201020105AG196497BenignMalignant_hyperthermia_susceptibility|Hypokale...0.754810.770490.880391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8286680571201020574TG657255Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8296688801201023034CG657228Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8306680561201023980GC657233Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8312548261201028299GA249614Benignnot_specified0.015070.015270.004390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8326680551201037962TC657261Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8336782981201042618GA657273Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8346782971201042983GA657276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8356680541201043301CT657281Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8366680531201044344CT657245Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8372548041201044748AG249634BenignMalignant_hyperthermia_susceptibility|Hypokale...0.703290.781370.759591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8386782211201046379TG657275Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8396782201201046388AG657278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8406782191201052640GA657249Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8416782181201058692TC657290Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8426782161201060525CT657277Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8432548521201060865GA249654BenignMalignant_hyperthermia_susceptibility|Hypokale...0.329770.388670.305111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8442947951201252701AT279712BenignEctodermal_dysplasia_skin_fragility_syndrome..0.613620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8452948391201299470AC278505BenignEctodermal_dysplasia_skin_fragility_syndrome..0.671931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8462948461201299748GA279643BenignEctodermal_dysplasia_skin_fragility_syndrome..0.629391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8472948471201299785AC278428BenignEctodermal_dysplasia_skin_fragility_syndrome..0.801321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8482948511201299852AG278508BenignEctodermal_dysplasia_skin_fragility_syndrome..0.62741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8492948541201299900GA278432BenignEctodermal_dysplasia_skin_fragility_syndrome..0.62741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8502948711201300842TC279691BenignEctodermal_dysplasia_skin_fragility_syndrome..0.904151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8512948721201300858CA278521BenignEctodermal_dysplasia_skin_fragility_syndrome..0.946691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8522948861201301873AG279700BenignEctodermal_dysplasia_skin_fragility_syndrome..0.842251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8532948871201301906CG279701BenignEctodermal_dysplasia_skin_fragility_syndrome..0.864221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8542568451201331554TG249665BenignFamilial_hypertrophic_cardiomyopathy_2|not_spe...0.734120.733490.742211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8556719461201331664CA657344Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856436321201334382GA52801Benign/Likely_benignCardiomyopathy|Hypertrophic_cardiomyopathy|Lef...0.682760.71940.695091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8576840181201336641GA657303Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8582568431201336984CT249666Benignnot_specified0.32685.0.285541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8596719451201337170AG657292Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8606840131201342862CT657320Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86181121203155882GC23151risk_factorAsthma-related_traits,_susceptibility_to,_7..0.785541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8622949491203198845CT279777Likely_benignChitotriosidase_deficiency0.03920.056980.020770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8636772221203472112TC655057Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8642563801204129671AC249672Benignnot_specified0.24643.0.281150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8654030181204159611CTC389367Benignnot_specified0.167240.29830.221850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8668016061205031116CT789914BenignEpilepsy,_familial_adult_myoclonic,_5...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8672606581205129319GA249674Benignnot_specified0.285640.300960.371410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8682606571205130413AG249675Benignnot_specified0.930190.931670.961061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8694034511205884274TC389347Benignnot_specified0.199370.105490.154150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8704034541205890679TC389371Benignnot_specified0.904280.915040.914141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871168731206946407TG31912protective,_risk_factorHuman_immunodeficiency_virus_type_1,_susceptib.....0.56511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8724024441207297680TC389358Benignnot_specified0.860990.854490.857831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8738109141207653364AG799152Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8744025621207653395CA389350Benignnot_specified0.878790.883540.942891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8752949831207967719TC278756BenignAtypical_hemolytic_uremic_syndrome..0.347240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8763688591209788213TC353088BenignEpidermolysis_bullosa,_junctional..0.774760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8772950591209788514GA280031BenignEpidermolysis_bullosa,_junctional..0.295130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8782555901209792015AAC249681BenignEpidermolysis_bullosa,_junctional|not_specifie...0.951840.956690.983631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8792555871209799253AG249684BenignEpidermolysis_bullosa,_junctional|not_specified0.7460.756450.764980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8802555981209804095GA249689BenignEpidermolysis_bullosa,_junctional|not_specified0.840610.847170.823280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8812555961209807972GA249691BenignEpidermolysis_bullosa,_junctional|not_specified0.31370.362480.245410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8822555921209811886TG249694BenignEpidermolysis_bullosa,_junctional|not_specified0.574580.570940.432510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8832555841209823354GA249695BenignEpidermolysis_bullosa,_junctional|not_specified0.242350.277910.297920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8842951751209959614GT280046BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.30991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8852951781209959872GA280163BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.808111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8862951841209960436GA280053BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.299121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8872951901209960925TC280057BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.297121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8882951931209961023TA280172BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.303711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8892951991209961314TC280174BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn.....0.087461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8902599261209965587GC249700Benignnot_specified0.34453.0.405151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8912599251209968684CA249701BenignPopliteal_pterygium_syndrome|Van_der_Woude_syn...0.34238.0.403751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8922599231209969902GC249702BenignVan_der_Woude_syndrome|not_specified0.330540.326010.270971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8932952671211665298AAG278948BenignLeber_congenital_amaurosis..0.739020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8942953051211666218AG278964Likely_benignLeber_congenital_amaurosis..0.482030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8957176111211844535CG729961Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8964032281211846876AG389380Benignnot_specified0.501460.558360.603040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8971779931215848641TC172380Benignnot_specified0.754420.766190.68971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8986678981215901987GT657334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
899483781215914826TC57540Benignnot_specified0.21844.0.159341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
900483771215916563GA57539BenignUsher_syndrome,_type_2A|not_specified0.202450.191850.144571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9016788861215931704TC657298Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9026678971215932743TG657339Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9036678961215933460CT657341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9046724651215955813TC657342Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9056788851215955869TC657346Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9066788841215955937TG657343Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
907483441215960167TG57506BenignUsher_syndrome,_type_2A|not_specified0.570580.546890.588661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9086724641215960476TG657347Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9096715971215968078AG657348Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9101378961216143948TC141599Benignnot_specified0.10334.0.078470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
911485621216172380AG57724BenignUsher_syndrome,_type_2A|not_specified0.480930.556690.593451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9121678151216219781AG172908BenignUsher_syndrome,_type_2A|not_specified0.700450.606930.595651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9131779921216348764CT172529Benignnot_specified0.606410.658010.662341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9146678941216390475CT657377Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
915484831216424303AG57645Benignnot_specified|not_provided0.012920.015810.007390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9162954611218519260AC279029BenignLoeys-Dietz_syndrome..0.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9172954761218519398GCAG280527Likely_benignLoeys-Dietz_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9182138361218578521GA209434Benign/Likely_benignConnective_tissue_disorder|Loeys-Dietz_syndrom...0.000690.00089.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9192955761220087703CT280820Likely_benignHypermanganesemia_with_dystonia_1..0.040931|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9202955781220088047CA280787BenignHypermanganesemia_with_dystonia_1..0.869810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9213805701220267581GT364655Benignnot_specified|not_provided0.014790.035150.028950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9223800231220269439AT364786Benignnot_specified|not_provided0.034540.080870.071290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9236806651220269800CT657384Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9246761401220275378GA657376Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9256806111220276333AG657379Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9266806721220287350CT657381Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9276806141220287461CT657385Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9286806731220288100GA657392Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9293800241220319007AG364901Benignnot_specified0.077890.10230.069090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9306806161220320541AG657393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9312956351220324189AG280822Likely_benignMartsolf_syndrome|Warburg_micro_syndrome..0.06270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9321300801220330672CT135526Benign/Likely_benignMartsolf_syndrome|Warburg_micro_syndrome|not_s...0.06920.087630.06050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9331300791220331205CG135525Benign/Likely_benignMartsolf_syndrome|Warburg_micro_syndrome|not_s...0.06920.089450.06030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9346807341220383449CG657397Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9356739801220406291AG657395Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9362621311223178561AC249737Benignnot_specified0.534910.545330.4980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93766591223284599TC21698risk_factorLegionellosis.0.148720.140180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9384026441225230608CT389376Benignnot_specified0.824350.865910.701281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9394026451225266966CG389361Benignnot_specified0.826610.865440.702281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9404026461225268106CA389364Benignnot_specified0.03044.0.015970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9414026471225268343AG389366Benignnot_specified0.826760.865430.703281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9424026481225268346GA389396Benignnot_specified0.826760.86630.702681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9434026491225270409AT389369Benignnot_specified0.761720.801990.662141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9444026501225273248GT389401Benignnot_specified0.825130.866570.702081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9454026521225439988TC389377Benignnot_specified0.347350.32520.485020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9464026531225445652GT389378Benignnot_specified0.324350.32480.485020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9474026561225528183CA389404Benignnot_specified0.492550.493430.529751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9484026571225533684AG389385Benignnot_specified0.492340.506970.528951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9494026591225534219TC389383Benignnot_specified0.492760.493570.529151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9504026601225534348GA389387Benignnot_specified.0.512320.529151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9514026611225555512CT389391Benignnot_specified0.464080.428050.325081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9524026621225555602TG389393Benignnot_specified0.468460.433390.329471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9534026631225562385CT389386Benignnot_specified0.723390.74860.709671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9544026641225565015TC389408Benignnot_specified0.561760.557210.556311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9554026651225565073CT389410Benignnot_specified0.490150.500250.491811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9564026661225569241TG389388Benignnot_specified0.531980.548330.528361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9572959351225599035AG280960Conflicting_interpretations_of_pathogenicityGreenberg_dysplasia|not_provided0.000540.000180.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9582586191225607144CT249738BenignGreenberg_dysplasia|not_specified|not_provided0.703290.800920.712261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9592586171225609884AG249740BenignGreenberg_dysplasia|not_specified|not_provided0.65916.0.670931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9602586161225611661CT249741BenignGreenberg_dysplasia|not_specified|not_provided0.698990.711230.657151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9618108841225611845CT799185Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9622561841227069677TC249746Benign/Likely_benignEarly-Onset_Familial_Alzheimer_Disease|not_spe...0.79310.760350.735621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9632561801227069737CT249747Benign/Likely_benignAlzheimer_disease,_type_4|Early-Onset_Familial...0.489540.499480.443291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9642561811227071525CT249748Benign/Likely_benignAlzheimer_disease,_type_4|Early-Onset_Familial...0.490160.499070.443291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9652960011227083550CT281058Likely_benignEarly-Onset_Familial_Alzheimer_Disease|Dilated.....0.450881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9666832001227165484TC657414Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9676715301227170298AG657420Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9686715311227170543CG657424Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9696715321227170768TC657396Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9701282741227172290CT133723BenignCoenzyme_Q10_deficiency,_primary,_4|not_specif...0.37367.0.238620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9716760901227172903GA657418Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9725183131227172935CG508767Likely_benignCoenzyme_Q10_deficiency,_primary,_40.398590.363150.265180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9736832011227173892TA657421Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9742960241227174145TC279683BenignCoenzyme_Q10_deficiency,_primary,_4|Autosomal_...0.47570.415480.351640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9751282751227174210TC133724BenignCoenzyme_Q10_deficiency,_primary,_4|not_specif...0.442180.405360.31390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9762960381227174823AAT280934BenignAutosomal_recessive_cerebellar_ataxia|Coenzyme......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9772960401227174902GA281095BenignAutosomal_recessive_cerebellar_ataxia|Coenzyme.....0.352040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9782960451227175119GA281096Likely_benignAutosomal_recessive_cerebellar_ataxia|Coenzyme.....0.094450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9792960501227175245CCT281105BenignAutosomal_recessive_cerebellar_ataxia|Coenzyme......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9803688671227175253CT353096BenignAutosomal_recessive_cerebellar_ataxia|Coenzyme.....0.419130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9813800391228353651GC364874Benignnot_specified|not_provided.0.489050.356030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9826842121228362213CG657426Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9833799881228362682GA364698Benignnot_specified|not_provided0.256940.289430.156951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9847132651228451941CT718723Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9856765641229568231TG657430Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9867677601229663064GAGGAAG777079Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9872547251230841687TC249765BenignRenal_dysplasia|not_specified0.940870.944070.972641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
988180681230845794AG33107BenignHypertension,_essential,_susceptibility_to|Pre....0.548430.705071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9892960831230845977GA280975Likely_benignRenal_dysplasia0.109260.123010.101640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9902960901230849872CT281157BenignRenal_dysplasia|not_provided..0.710461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9912960921230849886TG280986Likely_benignRenal_dysplasia..0.175921/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9922960971230850083CT279450BenignRenal_dysplasia..0.18950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9932961081231377081CT279735BenignRhizomelic_chondrodysplasia_punctata|not_speci...0.55090.549010.581870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9946711641231396634TC657443Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9956711681231400905AG657355Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9962603631231401902GA249768BenignRhizomelic_chondrodysplasia_punctata|Rhizomeli...0.59480.567620.628590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9976711691231403265TC657404Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9986711881231403830CT657356Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9996711891231403966AG657452Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10006711901231406295TC657453Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10016711961231406961CT657358Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10026675991231410115TC657459Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10032961511231500238AG281187BenignFamilial_erythrocytosis..0.027360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1004983461231830295GA104239not_providednot_provided0.260030.292340.232230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10054029811234743237GA389397Benignnot_specified0.124170.109040.085260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10064029841234745009AG389426Benignnot_specified.0.636480.603830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10072963051235600741AG281239Likely_benignHypoparathyroidism_retardation_dysmorphism_syn...0.049440.022690.036140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10082626511235652513TC249770Benignnot_specified0.520910.583980.678710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10094030651235826382TAT389398Benign/Likely_benignChédiak-Higashi_syndrome|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10106843681235827641CT657363Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10116843671235856395AC657477Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10122549081235860340CT249775Benignnot_specified|not_provided0.582280.43660.399960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10136843631235872665TC657480Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10146843611235887276GT657482Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10156843601235896726CT657489Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10166720171235906983TC657493Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10172549351235922228TC249784Benignnot_specified0.318930.248950.230030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10182549311235922671TG249788Conflicting_interpretations_of_pathogenicityChédiak-Higashi_syndrome|not_specified|not_pro...0.004690.004280.003590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10196843521235933904CT657494Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10202549271235940450CT249791BenignChédiak-Higashi_syndrome|not_specified|not_pro...0.435410.348320.300920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10212549231235945294TC249795BenignChédiak-Higashi_syndrome|not_specified|not_pro...0.436110.350120.303510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10226843451235945502AG657454Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10232549121235972435TC249806BenignChédiak-Higashi_syndrome|not_specified|not_pro...0.436650.349920.302720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10242549101235972867TC249807BenignChédiak-Higashi_syndrome|not_specified|not_pro...0.436490.349990.303320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10256843391235976594CT657366Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10266843381235976651TC657368Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10272626001236557771GA249813Benignnot_specified|Hypohidrotic_Ectodermal_Dysplasi...0.73835.0.776760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10284396371236557928GA433521Benignnot_specified..0.772360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10292626021236645670CT249816Benign/Likely_benignnot_specified|Hypohidrotic_Ectodermal_Dysplasi...0.189680.202390.133190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10306719811236850256AG657372Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10316719821236881403CT657423Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10326719831236882110GA657435Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1033439371236882303TC53106Benignnot_specified|Cardiovascular_phenotype|not_pro...0.992230.997910.992611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10346784371236883161AG657436Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10356719841236883240TC657439Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1036439381236883421CT53107Benignnot_specified|not_provided0.937720.962380.920731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10376719851236883564GA657440Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10386720011236883686GT657442Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10396720021236890781AG657373Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10406710601236894647GA657467Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10416720031236897633AG657456Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10426720041236898035TC657468Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10431777991236899042GA172789Benignnot_specified|not_provided0.156620.166740.195890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10446720051236900018GA657513Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10456780911236902364CT657461Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10466710611236902560CT657476Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1047439501236902594CG53119Benign/Likely_benignHypertrophic_cardiomyopathy|Dilated_cardiomyop...0.77749.0.767570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10486710621236902865AC657522Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10496720061236902955TC657466Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10506724461236910863TC657470Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10516826681236911343CT657416Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10526720071236912219GT657527Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10536720081236912286GA657491Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10546826691236912839AG657488Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10556720091236914576CT657531Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10566720101236914610GC657501Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10576826711236915207GA657492Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10586826811236918005TC657547Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10596720111236923299AG657517Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10606826821236923390CA657499Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10616710631236924506AG657523Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1062439331236925844GA53102Benign/Likely_benignHypertrophic_cardiomyopathy|Dilated_cardiomyop...0.15570.168810.196090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10632965121236926030AG281366Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.349840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10642965171236926366CG280081Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.404550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10652965181236926445TC281561Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.557310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10662965201236926643GC281562Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.217451|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10672965211236926667AG279762Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.399160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10681382881237038161TC141991BenignDisorders_of_Intracellular_Cobalamin_Metabolis...0.266650.31840.232230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10691382891237048500AG141992BenignNeural_tube_defects,_folate-sensitive,_suscept...0.220360.209080.218250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10701382841237058828CT141987BenignDisorders_of_Intracellular_Cobalamin_Metabolis...0.54606.0.529150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10711382851237060433GT141988BenignDisorders_of_Intracellular_Cobalamin_Metabolis...0.713360.675590.75240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10722965861237060945CTC280140Conflicting_interpretations_of_pathogenicityMETHYLCOBALAMIN_DEFICIENCY,_cblG_TYPE|Disorder......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10732965871237061056AC279822BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.540140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10742965981237061849GA281447BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.246010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10752966101237062198AC279848BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.764581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10762966111237062305AG281657BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.764381|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10772966181237062628CT281662BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.203671|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10782966311237063335GC281701BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.732830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10792966351237063709TTA281703BenignDisorders_of_Intracellular_Cobalamin_Metabolism...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10802966371237063717AAGA280180BenignDisorders_of_Intracellular_Cobalamin_Metabolism...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10812966551237064626TG280196BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.539740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10822966681237065326CT281517BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.544730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10832966731237065583GT280208BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.764580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10846689121237433524CT657524Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10856720661237433625CT657528Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10866837441237434181GA657549Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10876837461237434251AT657437Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10886837511237493854CA657447Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10896710211237519137TA657533Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10906837541237550323AC657540Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091438171237551376TA52986Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.52728.0.556511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10926717451237580606GT657541Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10936717461237580612GC657557Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1094437491237619875ATA52918Benign/Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10956837671237654831GT657521Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10966691981237656018AC657496Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10976717481237693471TC657625Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10986733031237693479CT657564Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10996720711237693921AG657535Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11006708951237694039GA657627Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11016837761237711457AG657569Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11026717491237711644TC657532Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1103437631237711797AG52932Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.85111.0.830270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11046699021237713557AG657571Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11056717501237729774GA657572Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11062572071237730124AG249820Benignnot_specified|not_provided0.905520.957540.905550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11076717511237730169CT657534Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11086717521237732332CT657643Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11092572081237732395GA249821Benignnot_specified|not_provided0.59350.64430.492810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11106720721237753364AC657559Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11116720731237753390AG657550Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11126746561237753519TC657583Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11136692661237753542CT657646Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11146837781237753571GA657584Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11152572101237754340AG249823Benignnot_specified|not_provided0.386310.446710.337460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11166837811237754605GA657648Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11176715041237754963AG657553Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1118437821237755076AG52951Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.01610.018240.007190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11192572111237755188CT249824Benignnot_specified|not_provided0.389150.459790.335860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11202572121237755203TC249825Benignnot_specified|not_provided0.38190.431740.337460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11216712011237755348TC657555Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11226712021237755402TG657651Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11236720741237757027GA657656Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11246720751237765200GA657565Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11256712031237765470AT657562Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11266837821237774614CT657599Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11276717691237788844TC657598Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11286717701237788862TC657666Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11296720781237789317AG657603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11306717711237791674CT657588Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11316717721237794603AG657607Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11326837841237795150GC657612Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11336717731237796759GC657626Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11342572141237796837GA249826Benignnot_specified|not_provided0.386790.363650.428510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11356712051237797082TG657616Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11366712061237797103CA657618Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11376717741237797973CT657681Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11386717751237797997AG657637Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11396717761237798450GA657621Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1140438191237801770TC52988Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.959210.988390.954871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11416837871237807069TC657630Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11426720951237813030CT657631Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11436717771237813126AG657605Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1144438271237814783CT52996Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.450730.519820.554910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11456712071237814898CA657613Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11466720961237817784AG657635Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11476720971237819014CG657619Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11486720981237819431CT657645Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11496720991237821109TA657657Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11506709461237823959CT657678Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11516710261237824332GA657663Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11526837881237830895GT657680Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11536712081237831103CA657664Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1154367501237841390AG45411Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.224870.253330.099241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11556721001237862436TC657629Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11566721011237862458AG657667Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11576837921237862587GA657668Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11586837941237863210GT657669Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1159438361237863718TG53005Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.97182.0.969251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11606717781237865203CT657711Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11616837891237875417CT657640Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1162436991237881770CT52868Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.961620.988590.960461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11636721021237886739CT657655Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1164437021237890437CT52871Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.960780.988530.960261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11651986681237893674CT195829Benignnot_specified0.985380.995390.985221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11666837971237896736GA657676Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11676837931237905342GA657712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11686721031237924044TC657719Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11696692491237949020TTG657700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1170934761237951451AG99381Benignnot_specified0.617640.5750.636581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11712572001237951482GA249835Benignnot_specified|not_provided0.356030.278810.297921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11726721611237954545GC657746Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11732572011237957146GA249836Benignnot_specified0.624190.713440.734030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1174437311237957161AG52900Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.651380.739890.757590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1175437321237957309AC52901Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.647840.727310.75080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11766696181237958925AATTTT657707Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11776780171237961712CCTATT657734Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11786838001237961740TC657745Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11796838021237961789TC657761Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11806692521237964934AG657762Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11816838041237995162TTTTGA657773Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11826721061237995671AG657743Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11832967891237996581GGA280387Uncertain_significanceArrhythmogenic_right_ventricular_cardiomyopath......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11842967991237996661CG281694Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.220451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11852968091237997087AG281876Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.246811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11866839081241671638CT657728Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11872600061243493907AT249851BenignRenal_dysplasia_and_retinal_aplasia|Bardet-Bie...0.268180.297560.271370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11882600081243507680CCA249853Benignnot_specified0.281750.26080.237820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11896776381243827863AG656829Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11902969311247581692TC280586BenignFamilial_amyloid_nephropathy_with_urticaria_AN.....0.99781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11911385281247587477GA142231BenignFamilial_amyloid_nephropathy_with_urticaria_AN...0.40597.0.387380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11924032431247587531AG389399Benignnot_specified0.918810.942590.919931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11932969561247612036GC280213BenignFamilial_amyloid_nephropathy_with_urticaria_AN.....0.653550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11942969601247612202TA281902BenignFamilial_amyloid_nephropathy_with_urticaria_AN.....0.131590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11957677751248343990TC696646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119633121521417244AG282528Likely_benignCongenital_hypothyroidism..0.632390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119725660721418192CG250164Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.3553.0.31170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119825660521481155GT250167Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.40690.457820.408150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119925660621481231GC250168BenignCongenital_hypothyroidism|Deficiency_of_iodide...0.781630.640040.710261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120025660821497803CT250170Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.350530.363040.359030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120125661021499899CT250173Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.41304.0.43890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120225661121499927AC250174Benign/Likely_benignCongenital_hypothyroidism|Deficiency_of_iodide...0.470320.427980.49840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120325661421520676TC250292BenignCongenital_hypothyroidism|Deficiency_of_iodide...0.613260.589820.663940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120433164421546327CG282293Likely_benignCongenital_hypothyroidism0.38152.0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120526022821647171TC250314Benignnot_specified|not_provided0.86344.0.907751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120626022421652660GA250318Benignnot_specified|not_provided0.25024.0.244811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120726022321652822TG250319Benignnot_specified|not_provided0.89915.0.93551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120826022021664654AG250345Benignnot_specified|not_provided0.713490.756010.81091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120968367423597974TC655445Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121066956323599539AG659171Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121168367223599700GT659096Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121268366823605468AG659172Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121367003423605528TG659098Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121467002823605538AC659196Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121533590523628383CA289245BenignDiamond-Blackfan_anemia|not_specified0.139420.120250.133390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121640255723653844TC389501Benignnot_specified.0.782660.75120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121740255623673648GA389503Benignnot_specified0.107950.127220.119210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1218330649210192851GGTT281475BenignMaturity_onset_diabetes_mellitus_in_young...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1219330669210194192TC281495BenignMaturity_onset_diabetes_mellitus_in_young..0.830871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1220330674210194487TC283502BenignMaturity_onset_diabetes_mellitus_in_young..0.587061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1221403386211333994TG389448Benignnot_specified0.230930.318160.301921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1222403387211359120GT389439Benignnot_specified0.450540.498150.399760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1223403044211817812GC389455Benignnot_specified|not_provided.0.632260.486420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122496495211905876CT102389Benignnot_specified0.264650.297870.204671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1225683089211924950TC658057Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1226262586211932173GT250105Benignnot_specified|not_provided0.696220.559760.536941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1227683094211932335TC658186Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1228684303211945533CA658010Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1229262591211955322GC250108Benign/Likely_benignnot_specified|Acute_Recurrent_Myoglobinuria0.04536.0.044730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1230330929211965541AG284019BenignAcute_Recurrent_Myoglobinuria..0.694891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1231330932211965814CT283783Likely_benignAcute_Recurrent_Myoglobinuria..0.116410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1232330933211965998AGA283789Likely_benignAcute_Recurrent_Myoglobinuria..0.018970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1233330940211966317TC283806BenignAcute_Recurrent_Myoglobinuria..0.231230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1234330957211967219GT282373Uncertain_significanceAcute_Recurrent_Myoglobinuria..0.005790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1235333371220130145TG286855Benign/Likely_benignShort_Rib_Polydactyly_Syndrome|Cranioectoderma...0.09380.114810.142970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1236167846220131184CA178154BenignShort_Rib_Polydactyly_Syndrome|Cranioectoderma...0.964550.987950.964861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1237256877220135283TC250472BenignShort_Rib_Polydactyly_Syndrome|Cranioectoderma...0.42973.0.510781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1238333407220189015TC283829Benign/Likely_benignShort_Rib_Polydactyly_Syndrome|Multiple_Epiphy...0.065430.106510.118611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1239256876220189089CT250473Benignnot_specified0.568120.546810.62161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1240333410220192696GA284474BenignShort_Rib_Polydactyly_Syndrome|Multiple_Epiphy.....0.509191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1241258646220194036GC250475Benignnot_specified0.420460.515810.509391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1242195170220205680CT192331BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.429970.483710.524361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1243195169220205848GA192330BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.436880.475390.524761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1244128418221225281CT133867Benign/Likely_benignFamilial_hypercholesterolemia|Familial_hyperch...0.802970.705740.629591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1245128425221232195GA133874Benign/Likely_benignFamilial_hypercholesterolemia|Familial_hyperch...0.413890.389940.2511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1246128424221232803TGCA133873Benign/Likely_benignFamilial_hypercholesterolemia|Familial_hyperch...0.395970.389140.24921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247335352225383887GA289041Likely_benignProopiomelanocortin_deficiency|Monogenic_Non-S.....0.115621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1248706983225565907AG695137Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1249335372226413917CT289069BenignMitochondrial_trifunctional_protein_deficiency.....0.787541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1250676137226415429AG659109Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1251676135226416301AG659032Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1252676286226417829GA658940Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1253676133226420708TG659072Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1254681693226420809GC659036Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1255673764226424384GA659116Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1256681690226438276TC659121Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1257681680226460072CT659080Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1258335395226467666GA288705BenignMitochondrial_trifunctional_protein_deficiency.....0.457271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1259676138226476977AG659125Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126092600226477125GGACT98508BenignMitochondrial_trifunctional_protein_deficiency......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1261335410226512957GC289128BenignMitochondrial_trifunctional_protein_deficiency..0.711061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1262262566226647277TG250699Benignnot_specified0.78571.0.62341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1263402796226667130AG389516Benignnot_specified0.125250.184030.161140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1264262564226667615TC250700Benignnot_specified0.9980.999330.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1265262565226671544AG250701Benignnot_specified0.678460.715720.530351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1266402797226676322AG389508Benignnot_specified0.995310.998320.994411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1267683011226707593TA659141Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126821864226712561CT34716Benign/Likely_benignDeafness,_autosomal_recessive_9|not_specified|...0.083650.055460.055910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126921836226741961GA34688Benign/Likely_benignDeafness,_autosomal_recessive_9|not_specified|...0.367910.434980.269971|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1270402999226951449GA389500Benignnot_specified0.970270.989290.962661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1271335473227309659AC288764BenignFructosuria,_essential..0.546331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1272335500227322636TCAT285791Likely_benignFructosuria,_essential...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127395736227589810TC101633BenignLeukoencephalopathy_with_vanishing_white_matte...0.415890.39860.383390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127495738227592423CT101635BenignLeukoencephalopathy_with_vanishing_white_matte...0.415810.396190.37840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1275335549227600239GA285839Likely_benignRetinitis_Pigmentosa,_Dominant..0.352040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1276379412227667297AG366599Benignnot_specified0.479090.44030.454070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1277379411227676287AT366532Benignnot_specified0.375830.388570.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1278683620227684957TC659148Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1279379410227688601CT366610Benignnot_specified0.478930.418650.454070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1280683618227693485TC659095Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1281476042227693802GC451000Conflicting_interpretations_of_pathogenicitynot_specified|not_provided0.005230.007210.00280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1282667025229001691AG654284Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1283335573229284806AG286629BenignRetinitis_Pigmentosa,_Recessive..0.921531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1284335575229284981TC288858Likely_benignRetinitis_Pigmentosa,_Recessive..0.495411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1285335576229285065AG286632BenignRetinitis_Pigmentosa,_Recessive..0.81571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1286335578229285150TC289266BenignRetinitis_Pigmentosa,_Recessive..0.978441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1287335583229285210CT289296BenignRetinitis_Pigmentosa,_Recessive..0.509780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1288335584229285254CT288860Likely_benignRetinitis_Pigmentosa,_Recessive..0.069290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1289335590229285575CT285857BenignRetinitis_Pigmentosa,_Recessive..0.594050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1290335591229285631AG285858BenignRetinitis_Pigmentosa,_Recessive..0.594450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1291335592229285713CT288868BenignRetinitis_Pigmentosa,_Recessive..0.588060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1292335599229286072GA286655BenignRetinitis_Pigmentosa,_Recessive..0.580070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1293335601229286193TC285864BenignRetinitis_Pigmentosa,_Recessive..0.62380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1294335605229286364CT288870Likely_benignRetinitis_Pigmentosa,_Recessive..0.132990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1295335609229286509TC286672Likely_benignRetinitis_Pigmentosa,_Recessive..0.366610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1296335613229286670TC286673Likely_benignRetinitis_Pigmentosa,_Recessive..0.367010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1297335621229286905GT286682Likely_benignRetinitis_Pigmentosa,_Recessive..0.335060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1298335625229287192GA288899Likely_benignRetinitis_Pigmentosa,_Recessive..0.130590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1299335627229287227TAACAG289343Uncertain_significanceRetinitis_Pigmentosa,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1300335635229287708CT285893Likely_benignRetinitis_Pigmentosa,_Recessive0.284040.269430.327080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1301287770229294629CT272007Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.17530.170670.12480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1302287769229294754GC272006Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.175110.170450.1250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1303193145229295016AG190310Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.304680.269360.333870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1304335662229295676GA288932Likely_benignRetinitis_Pigmentosa,_Recessive0.304120.26830.331670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1305335672229296870CT285944Likely_benignRetinitis_Pigmentosa,_Recessive0.168150.165670.111220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1306335674229297068CT286730Likely_benignRetinitis_Pigmentosa,_Recessive0.173190.170880.116610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1307335677229415792GA289362BenignNeuroblastoma_Susceptibility..0.992811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1308133472229416572TC137211BenignHereditary_cancer-predisposing_syndrome|Neurob...0.990310.997160.992211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1309676841229419591GT659127Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1310676840229436633GT658978Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1311676839229437182TC659162Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312259271229446202GA250717BenignNeuroblastoma_3|not_specified|Neuroblastoma_Su...0.266340.289560.176520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1313259268229455267AG250719BenignHereditary_cancer-predisposing_syndrome|Neurob...0.661390.61210.50/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1314676804229541104CT659063Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1315259266229543663TC250720BenignHereditary_cancer-predisposing_syndrome|Neurob...0.79094.0.776561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1316259274229940529AT250722BenignHereditary_cancer-predisposing_syndrome|Neurob...0.62702.0.589260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1317259269230143499GC250724BenignHereditary_cancer-predisposing_syndrome|Neurob...0.909290.894950.893771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1318335749231558115AAGA286785Likely_benignXanthinuria...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1319191300231570376TC189103BenignXanthinuria|Deficiency_of_xanthine_oxidase|Xan...0.751730.778460.777361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1320255969231571241GC250726BenignXanthinuria|not_specified0.742970.776120.768371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1321255968231571786AG250727BenignXanthinuria|not_specified0.772950.786350.799921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1322801659231572482TTG790228BenignXanthinuria_type_2...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132397419231749714CT103311Benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de.....0.166930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1324335803231749993TC286076Likely_benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de.....0.014580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1325335811231751042TA286098Likely_benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de.....0.014580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132697403231805675AG103295Benignnot_specified|not_provided0.701310.684410.642370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132797400231805706GC103292Benignnot_specified|not_provided0.724470.699910.652160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132897386231806031CG103278Benign3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de.....0.640380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1329671069232288478CA659068Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1330684075232340482CG659179Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1331684076232353188TC659185Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1332667494232370344CT659029Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1333335865232381110TG289568BenignSpastic_paraplegia,_autosomal_dominant..0.337860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1334335875232381715GC289215Likely_benignSpastic_paraplegia,_autosomal_dominant..0.00281/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1335335876232381727AAAGG286164BenignSpastic_paraplegia,_autosomal_dominant...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1336335878232381829GA286168BenignSpastic_paraplegia,_autosomal_dominant..0.480031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1337335879232381883GA286173Likely_benignSpastic_paraplegia,_autosomal_dominant..0.0030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1338783022232656153CT708246Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1339783023232689842CT708251Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1340783024232702561GA708252Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1341783116232774505CT708254Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1342783117232819010GA708255Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1343236028233682737GT237595associationLip_and_oral_cavity_carcinoma..0.643370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1344790641236704117CT708265Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1345335967239209047AG289323Likely_benignGingival_fibromatosis|Noonan_syndrome..0.74760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1346335973239209426AG286987Likely_benignGingival_fibromatosis|Noonan_syndrome..0.746610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1347335979239210398AT289331Likely_benignGingival_fibromatosis|Noonan_syndrome..0.899560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1348212289239210719TTTA207000Likely_benignGingival_fibromatosis|Noonan_syndrome|not_spec......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1349335987239211121TC289686Likely_benignGingival_fibromatosis|Noonan_syndrome..0.762180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1350212288239211358TAT207001Likely_benignGingival_fibromatosis|Noonan_syndrome|not_spec......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1351336010239212565TTTG287026Likely_benignGingival_fibromatosis|Noonan_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1352336011239212637TC289730Likely_benignGingival_fibromatosis|Noonan_syndrome..0.523360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1353561358239216697TAT552503Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1354561828239216773TC552504Benignnot_provided..0.744010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1355259848239224351GT250731Benignnot_specified0.9460.918820.900160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1356259847239224615GGT250733Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1357561381239224637GA552509Likely_benignnot_provided..0.006591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1358180170239233500GA178349BenignNoonan_syndrome..0.905150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135940708239233584CT49178BenignRasopathy|not_specified|not_provided0.000540.00067.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1360561380239234432GC552512Likely_benignnot_provided..0.006590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1361561827239249409CG552519Benignnot_provided..0.729830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1362561826239250673AG552527Benignnot_provided..0.729430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1363561825239262068CT552528Benignnot_provided..0.899560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1364561372239278066CT552534Benignnot_provided..0.894170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1365180179239281730GC178351BenignNoonan_syndrome|not_specified0.937350.901410.891370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1366561824239285551TAAACT552538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1367336080244101538CT286334BenignSitosterolemia|not_specified.0.673340.764981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1368336112244114074GA287094BenignLeigh_syndrome..0.600641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1369684334244116100CT659202Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1370671284244128912CT659221Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1371684327244139986GA659210Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1372671279244145799CT659128Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1373684311244190392CT659268Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1374336184244502788AC286471BenignCystinuria0.778870.732750.703471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1375167690245171842AG178072Benignnot_specified|not_provided0.936880.921450.93751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1376336258246603671CG287200BenignFamilial_erythrocytosis0.42911.0.31250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1377336293246612326GTTG286566BenignFamilial_erythrocytosis...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1378528477247233120CT518362Likely_benignnot_provided0.00038..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1379678452247390026CT659070Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1380683290247390058TC659303Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1381676950247643191CG659157Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138236564247656801GA45226BenignLynch_syndrome..0.593650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138390598247663845GA96073BenignLynch_syndrome..0.599240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138490607247666838TC96082BenignLynch_syndrome..0.082470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138590609247671742AC96084BenignLynch_syndrome..0.601240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138690599247672569GA96074BenignLynch_syndrome|not_provided..0.794731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138790687247692281CT96162BenignLynch_syndrome..0.556710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138890846247703241AG96321BenignLynch_syndrome..0.551920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1389676471247703379CT659239Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1390676957247703885GA659163Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139190924247704027GC96399BenignLynch_syndrome..0.962461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139241867247739551AG50306Benignnot_specified|not_provided0.429190.457950.527951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139336581248010488GA45243BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.17965.0.200880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139489294248012846CT94768BenignLynch_syndrome..0.294330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139589521248019485TC94995BenignLynch_syndrome..0.169530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1396676475248022900AG659241Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139789532248022981GT95006BenignLynch_syndrome0.22616.0.224440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139889544248024876CT95018BenignLynch_syndrome..0.737821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
139989345248030458GC94819BenignLynch_syndrome|not_specified..0.822481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140042471248030838AT51641BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.314620.404260.400960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140189410248032312GA94884BenignLynch_syndrome..0.672321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1402595919248032613GA586980Benignnot_specified..0.769571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140389429248032874ACTATA94903BenignLynch_syndrome|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140489432248032937TC94906BenignLynch_syndrome|not_specified..0.81431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
140536594248033551CG45256BenignLynch_syndrome|Hereditary_nonpolyposis_colorec...0.787220.742650.809111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1406336454248914615CG286696BenignHypergonadotropic_hypogonadism|Leydig_cell_age.....0.162740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1407255607248915871AG250744BenignHypergonadotropic_hypogonadism|Leydig_cell_age...0.496690.602630.592250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1408255609248921375TC250745BenignHypergonadotropic_hypogonadism|Leydig_cell_age...0.491220.637620.591050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1409255608248925746CT250746BenignHypergonadotropic_hypogonadism|Leydig_cell_age...0.852380.765650.737421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1410137403249381585CT141106BenignOvarian_hyperstimulation_syndrome|Ovarian_dysg...0.259110.316020.345050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1411336515250147171CA290280BenignPitt-Hopkins-like_syndrome..0.227241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1412336528250148111AAAAGT289874BenignPitt-Hopkins-like_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1413667709250149510AG659168Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1414675103250170729GC659254Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1415801713250201110AG790282BenignPitt-Hopkins-like_syndrome_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1416667731250463700GA659349Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1417667707250463701AG659112Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1418667711250692459TA659118Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1419667708250699205CA659183Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1420667706250699305TA659189Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1421667704250699758CT659194Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1422667536250699890TC659273Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1423667703250733958TC659285Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1424667702250766007TA659287Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1425670683250780219TG659288Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1426667697250780392GA659135Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1427668651250848056GGC659149Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1428667699251148872TA659203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1429674918251254538CG659212Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
143093603251254901GA99507BenignHistory_of_neurodevelopmental_disorder|Pitt-Ho...0.174020.130580.213060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1431683578255870827AG659152Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1432138739255872538TC142442Benignnot_specified|not_provided0.157110.082820.147560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1433138738255873385CG142441Benignnot_specified|not_provided0.203210.129790.198480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1434683569255874811CT659161Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1435671592255881816CT659375Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1436671591255883713CA659246Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1437671588255889062GA659301Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1438671576255889454GA659252Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1439669542255889466GA659169Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1440683568255894428GA659302Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1441683567255895321TC659253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1442683564255898929AG659395Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1443671587255899228AT659404Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1444516898255900231GGA500091Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1445683552255910710TC659262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1446671575255913271ATA659184Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1447257227256098272GA250749BenignDoyne_honeycomb_retinal_dystrophy|not_specified0.053670.053390.037740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1448257495258388696AG250750BenignFanconi_anemia|not_specified|not_provided0.704090.648660.706470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1449336653258388708CT287621Conflicting_interpretations_of_pathogenicityFanconi_anemia|not_provided.4e-05.1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1450257494258431410GC250751Benignnot_specified0.147240.126040.176720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1451127265260720246CT132722BenignFetal_hemoglobin_quantitative_trait_locus_5|In.....0.483230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1452336670261275771CG287662Conflicting_interpretations_of_pathogenicityPeroxisome_biogenesis_disorder_11A|Peroxisome_...0.027450.024070.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1453336677261276263GA287682BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.995211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1454336685261276857CT290432BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.303910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1455336687261277099GA286893Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.076280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1456336699261278052AG290089BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.616010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1457336715262052380AG290453Likely_benignRetinitis_Pigmentosa,_Recessive.0.397340.476440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1458336727262053290AG290460Likely_benignRetinitis_Pigmentosa,_Recessive.0.399680.476040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
145996217262066927AG102111BenignRetinitis_pigmentosa_28|not_specified|Retiniti...0.979830.975890.979631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1460336744262069358TC287722Likely_benignRetinitis_Pigmentosa,_Recessive0.168080.182920.160140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1461193466262081012AC190630Benignnot_specified0.979710.975940.979431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1462336747262081217AG290124BenignRetinitis_Pigmentosa,_Recessive0.981490.97460.979431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1463336760263380675CA290503Uncertain_significanceBardet-Biedl_syndrome0.000170.00015.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
146495744263486429CT101641BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.62290.605280.763781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1465193387263815393AG190551Uncertain_significancenot_provided.0.00039.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1466156571268445313ATTAATA166380not_providednot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1467336784269547236GC290135BenignCongenital_Myasthenic_Syndrome,_Recessive..0.655351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1468336790269547919CCA286996Uncertain_significanceCongenital_Myasthenic_Syndrome,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1469336797269548320CT290546BenignCongenital_Myasthenic_Syndrome,_Recessive..0.658751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1470336799269548495TG287017Likely_benignCongenital_Myasthenic_Syndrome,_Recessive..0.104430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1471336801269548591CT290139BenignCongenital_Myasthenic_Syndrome,_Recessive..0.638581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1472336807269549262TC287799BenignCongenital_Myasthenic_Syndrome,_Recessive..0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1473336818269550036TC290161BenignCongenital_Myasthenic_Syndrome,_Recessive..0.658751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1474336821269550230TG290554BenignCongenital_Myasthenic_Syndrome,_Recessive..0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1475336823269550256CT290555BenignCongenital_Myasthenic_Syndrome,_Recessive..0.663541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1476336829269550652GA290560BenignCongenital_Myasthenic_Syndrome,_Recessive..0.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1477336839269551011TC290180BenignCongenital_Myasthenic_Syndrome,_Recessive..0.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1478336840269551052TC290192BenignCongenital_Myasthenic_Syndrome,_Recessive..0.649361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1479336859269552521CA287821BenignCongenital_Myasthenic_Syndrome,_Recessive..0.638181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1480336873269553375GAG290634Uncertain_significanceCongenital_Myasthenic_Syndrome,_Recessive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1481673466269556144AC659425Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1482681723269565345TC659186Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1483257667269565563TAT250761Benign/Likely_benignnot_specified|Congenital_Myasthenic_Syndrome,_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1484129151269573029TC134597Benignnot_specified|Congenital_Myasthenic_Syndrome,_...0.67541.0.647171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1485681308269573273TC659431Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1486681306269583422GA659190Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1487681305269583896AG659281Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1488682687269585176AG659283Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1489681304269586293AC659432Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1490258543269586370AG250762Benignnot_specified|not_provided0.30986.0.244010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1491672059269601502GA659331Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1492682685269613926TC659197Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1493681303269613958AG659347Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1494258544269614161AG250765Benignnot_specified|not_provided0.691970.609250.656551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1495671562269627919GA659200Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1496683210269633382AT659216Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1497683209269642615GA659307Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1498683208269646504GA659223Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1499669524269646950CT659308Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1500673395269650445TA659229Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1501669523269650527CT659238Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1502138516269659126AT142219BenignMultiple_mitochondrial_dysfunctions_syndrome|n...0.377210.392840.317090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1503669522269659402TA659354Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1504672905269664921AT659445Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1505669521269664976CT659244Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1506336905271004492TCACCT287838Uncertain_significancePremature_ovarian_failure...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1507336907271012604GA287106BenignPremature_ovarian_failure0.675010.647930.797720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1508336909271012734CG290660BenignPremature_ovarian_failure0.626690.623140.762980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1509369346271162996AG353575BenignRenal_tubular_acidosis_with_progressive_nerve_.....0.530351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
151044228271163086TC53395BenignRenal_tubular_acidosis_with_progressive_nerve_...0.415040.409490.368810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
151144231271163173CT53398BenignRenal_tubular_acidosis_with_progressive_nerve_...0.158540.180180.158550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
151244222271190384CT53389BenignRenal_tubular_acidosis_with_progressive_nerve_...0.35830.469020.43750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1513138182271351487GA141885BenignMethylmalonic_acidemia|not_specified0.273640.305640.182510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1514668890271730055GA659459Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1515677301271743562GT659475Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1516668122271743640TC659332Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1517679370271747235AG659484Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1518679411271747432GT659333Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1519679412271747568GT659385Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1520679413271747723CG659260Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1521679414271747851TC659264Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152294368271747899GA100268Benignnot_specified0.496080.475540.367811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1523259065271755380AG250776Benignnot_specified|not_provided0.846690.746580.656351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152494268271762232CT100168Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.628940.584560.457671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1525679416271762310AG659271Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1526679418271766487GA659391Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1527679421271779032GA659512Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1528668124271779853TC659346Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
152994281271780215TC100181Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.734890.643020.575481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1530679422271780821TC659517Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1531668895271782764CG659300Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
153294290271795152AT100190Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.716210.604160.550521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1533679423271796865CG659352Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1534679425271797176AC659361Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1535681362271801267GC659522Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1536679986271816602GC659309Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1537679987271817003AG659529Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1538668126271825438GC659402Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1539679992271826102CT659382Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1540668898271827555CT659403Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1541679993271828423AT659389Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1542679994271829821GT659393Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
154394316271838597CA100216Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.471550.501460.449481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1544679995271847943CA659396Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1545679996271871039AG659415Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1546259080271871236AG250790Benignnot_specified|not_provided0.889670.859370.838261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1547668127271889101AG659320Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1548668128271889156CG659420Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1549679998271891236CT659426Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1550259081271891361CT250791Benignnot_specified|not_provided0.811630.820180.744811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1551680001271897075AG659428Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1552259082271901286CT250792Benignnot_specified|not_provided0.780030.806850.728041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
155394346271906171TC100246Benignnot_specified0.923040.885080.87821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1554680008271907930GT659435Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1555383755273613341GA367793Benignnot_specified0.227.0.25120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1556383767273650122TA366927Benignnot_specified0.502780.603310.532750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1557383753273651967CT367798Benignnot_specified|not_provided0.39451.0.363620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1558504918273675669TG496235Benignnot_specified|not_provided0.880570.862730.87221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1559383768273675844CT366940BenignAlstrom_syndrome|not_specified|not_provided0.494810.599090.526360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1560383757273677833AG366999Benignnot_specified|not_provided0.371940.260880.338260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1561379229273677898GC366959Benignnot_specified|not_provided0.394570.268130.363620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1562383758273679280AG366730Benignnot_specified|not_provided0.391250.267590.358830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1563383769273679866TC367864Benignnot_specified|not_provided0.140380.143220.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1564383759273679990TA367014Benignnot_specified|not_provided0.395360.26990.363820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1565383760273680508GC367891BenignAlstrom_syndrome|not_specified|not_provided0.39545.0.364420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1566383761273717567GT366982Benignnot_specified|not_provided0.390.266280.358230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1567383762273717656AG366756Benignnot_specified|not_provided0.391360.266130.358230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1568683047273746643TC659450Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1569383763273746923CT366758Benignnot_specified|not_provided0.303750.216910.256790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1570677826273761881GA659586Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1571677827273762236AG659590Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1572669780273762385GA659453Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1573393379273777400AG380199BenignMonogenic_diabetes|not_specified|not_provided0.003150.005970.007190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1574383770273828310TC367006Benignnot_specified0.515010.624430.552920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1575383764273828538GA367925Benignnot_specified|not_provided0.536610.633380.582270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1576383765273829372CT367049Benignnot_specified|not_provided0.393590.263580.341650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1577677830273829678CT659337Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1578337039273837006TA287232Likely_benignAlstrom_syndrome..0.105230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1579160040274087290TC168077Likely_benignnot_specified0.229130.177610.158551|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1580160041274087298AG168078Likely_benignnot_specified0.083270.088370.159550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1581679277274165856GA659468Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1582679278274173656AC659351Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1583679279274178080TC659474Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1584683414274369151AT659357Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1585683413274371995GA659479Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1586683410274372678AC659486Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1587683407274374641CT659365Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
158895359274692191CT101258Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.04160.056420.017370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1589337133274758151TC290711Uncertain_significanceParkinson_Disease,_Dominant.1e-05.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1590337149284650707AG290971BenignMitochondrial_DNA_depletion_syndrome|Mitochond.....0.802121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1591684111284660240GA659367Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1592684110284667864CT659624Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1593684109284677140AG659503Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1594669574284686757AG659373Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1595402731284756049GA389523Benignnot_specified0.923570.948750.944691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1596402732284771480GA389519Benignnot_specified0.911260.943930.929511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1597402733284771567CT389526Benignnot_specified0.809290.883620.816691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1598402734284800605CA389530Benignnot_specified0.908810.946550.929711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1599402738284880445GC389544Benignnot_specified0.115690.162960.099240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1600402740284897517AG389532Benignnot_specified0.962520.973270.982231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1601402742284924823TC389535Benignnot_specified0.153960.147710.116810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1602402745285023554AG389533Benignnot_specified0.215290.187160.212060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1603402746285024731CT389548Benignnot_specified0.118920.1140.104230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1604508141285617327CT499965Benignnot_specified0.060660.048740.042730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1605508142285617579CT500383Benignnot_specified0.060660.0490.042730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1606674848285766545CT659381Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1607674698285769246GA659638Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1608381190285769711CG367044Benignnot_specified0.533060.45290.492811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1609674849285769975AG659516Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1610337176285772478CT288088Uncertain_significanceVitamin_K-Dependent_Clotting_Factors..0.010780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1611337179285772548CT287342BenignVitamin_K-Dependent_Clotting_Factors..0.493611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1612337185285773061AG291027BenignVitamin_K-Dependent_Clotting_Factors..0.530151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1613337190285773252TC290804BenignVitamin_K-Dependent_Clotting_Factors..0.107630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1614337198285773539TTAA287354Uncertain_significanceVitamin_K-Dependent_Clotting_Factors...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1615337203285773654CCTG290806BenignVitamin_K-Dependent_Clotting_Factors..0.510181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1616337204285773659AG288100BenignVitamin_K-Dependent_Clotting_Factors..0.285940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1617337217285774676GA288159BenignVitamin_K-Dependent_Clotting_Factors..0.493611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1618337238285776276TG291057Uncertain_significanceVitamin_K-Dependent_Clotting_Factors..0.007590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1619337243285776490CCTTTA291059BenignVitamin_K-Dependent_Clotting_Factors...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1620337266285780131GA291091BenignVitamin_K-Dependent_Clotting_Factors0.302550.266060.285940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1621337268285780536CT291110BenignVitamin_K-Dependent_Clotting_Factors0.419190.319790.37780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1622337275285786074GA290862Likely_benignVitamin_K-Dependent_Clotting_Factors0.050050.031490.039940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1623263205285890771TG250817Benignnot_specified0.93620.936520.974841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1624165204285893741GA173673Benignnot_specified|Pulmonary_Surfactant_Metabolism_...0.598880.503720.519971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1625165206285894308GT173674Benignnot_specified|Pulmonary_Surfactant_Metabolism_...0.282870.35530.296930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1626165208285895338TG173675Benignnot_specified|Pulmonary_Surfactant_Metabolism_...0.35110.425430.418530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1627130382286088311TC135829BenignSalt_and_pepper_developmental_regression_syndr...0.156770.222510.209071|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1628337344286441303AC288254BenignSpastic_paraplegia,_autosomal_dominant..0.37360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1629337345286441334CCTGTT287482BenignSpastic_paraplegia,_autosomal_dominant..0.3730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1630669113286478869AC659639Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1631130108286481835CT135554BenignSpastic_paraplegia_31,_autosomal_dominant|not_...0.371830.467340.428710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1632669110286509079TC659438Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1633128986288874891CA134433BenignWolcott-Rallison_dysplasia|not_specified0.801710.702060.720650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1634128984288882942TA134431BenignWolcott-Rallison_dysplasia|not_specified0.239420.254150.204270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1635128988288895123TC134435BenignWolcott-Rallison_dysplasia|not_specified0.734740.637920.648960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1636128987288913273GC134434BenignWolcott-Rallison_dysplasia|not_specified0.198370.298280.280550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1637337424288926964GA291074Likely_benignWolcott-Rallison_dysplasia..0.015770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1638337440289050126TG288313BenignDeficiency_of_ribose-5-phosphate_isomerase..0.18950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1639337472296917588TG291107BenignPheochromocytoma..0.616410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1640677140296931846TC659408Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1641337536296944553GA291176Likely_benignRetinitis_Pigmentosa,_Dominant0.251960.309710.246010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1642337548296952833AG291356Likely_benignRetinitis_Pigmentosa,_Dominant0.235660.319010.284140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1643337642298356250GC291334BenignSevere_Combined_Immune_Deficiency..0.148760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1644483272105979730CA57489Benignnot_specified0.3117.0.277360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16452614282108608648AG250078Benignnot_specified0.063510.084160.076080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16462614292108618514CT250079Benignnot_specified0.12510.11280.144170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16473800292109374952AG365325Benignnot_specified|not_provided0.308290.2604.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16483306832109510937GA283642BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant..0.531751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16493306882109511765AG283656BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant..0.669931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16503306942109512234TC283660BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant..0.720851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16511558622109513321CA165611BenignHypohidrotic_Ectodermal_Dysplasia,_Dominant|no...0.858970.906650.882991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16521558652109513654GA165614Benignnot_specified|Hypohidrotic_Ectodermal_Dysplasi...0.699290.810270.711861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16531558642109522720GA165613Uncertain_significancenot_provided0.682760.795030.674321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16541558702109526969GA165619Benignnot_specified|Hypohidrotic_Ectodermal_Dysplasi...0.896280.916970.921331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16551558692109527087GA165618Uncertain_significancenot_provided..0.665541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16561558672109527373AG165616Uncertain_significancenot_provided0.905580.919010.927521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16572557052110919321CT250088Benignnot_specified0.280990.361330.3781|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1658927192110922703CT98626BenignNephronophthisis|Joubert_syndrome|Renal_dyspla...0.378830.379310.474440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16593307462112705157TC283717Likely_benignRetinitis_Pigmentosa,_Recessive0.584650.584460.514780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16603307542112751928GA281580Likely_benignRetinitis_Pigmentosa,_Recessive0.634020.597170.56150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16613307592112755001AG282252Likely_benignRetinitis_Pigmentosa,_Recessive0.633940.597320.56150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16623307622112765973AG281586Likely_benignRetinitis_Pigmentosa,_Recessive0.587810.582450.515180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16633307662112776979CA282254Likely_benignRetinitis_Pigmentosa,_Recessive0.29994.0.296930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16643307702112786523AAT283784Likely_benignRetinitis_Pigmentosa,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16657701302113258916CT696975Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1666146712113594387GA29710risk_factorGastric_cancer_susceptibility_after_h._pylori_.....0.472441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16677678162113671410AG696980Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16683307832113820476TC283604BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16693307842113820530AG283793BenignPustular_psoriasis,_generalized..0.715460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16703307872113820580CA283612BenignPustular_psoriasis,_generalized..0.715460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16713307892113820655AT282259BenignPustular_psoriasis,_generalized..0.715060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16723307902113820672AG283794BenignPustular_psoriasis,_generalized..0.715060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16733307912113820732TC282260BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16743307922113820814CG283621BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16753307962113821117CT283623BenignPustular_psoriasis,_generalized..0.869811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16763307982113821200TC281597BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16773308022113821653TC281598BenignPustular_psoriasis,_generalized..0.715260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16785377172113887483CT516358Benignnot_provided..0.254590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16793308272113890304TC283875BenignOsteomyelitis,_sterile_multifocal,_with_perios...0.33315.0.350040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16803308322113890586CG281620BenignOsteomyelitis,_sterile_multifocal,_with_perios.....0.355030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16813308532113973632GA281649Likely_benignCongenital_hypothyroidism..0.455670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16823308582113973801TC281655BenignCongenital_hypothyroidism..0.794331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16833308612113973964TC283928Likely_benignCongenital_hypothyroidism..0.454270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16843308642113974196GC282309Likely_benignCongenital_hypothyroidism..0.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16853308822113975923TC283980Uncertain_significanceCongenital_hypothyroidism..0.027160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16867678192120194651AAGTGTGC696990Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16878017432121684663CG790036BenignHoloprosencephaly_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16884397582121709091GA433591Benignnot_specified..0.93871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16892597312121713022CG250113Benignnot_specified..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16902597322121713030GA250114Benignnot_specified0.754130.923420.785941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16912597332121713041TC250115Benignnot_specified0.755770.920230.785941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16922597362121726447GA250118BenignHoloprosencephaly_sequence|not_specified0.809240.940070.827281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16932597092121729490CT250121Benignnot_specified0.869450.95580.87661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16942597102121729686TC250122Benignnot_specified0.869750.957220.8771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16952597162121740493GA250127Likely_benignnot_specified0.01238.0.005391/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16962597172121740505CT250128Benignnot_specified0.77180.907750.779751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
16972597252121744225AG250136Benignnot_specified0.629810.640990.519571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1698952712121746956GT101170BenignHoloprosencephaly_sequence|not_specified0.623410.62960.508991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1699952722121747406GA101171BenignHoloprosencephaly_sequence|not_specified0.676870.646350.567091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1700952732121747429AG101172BenignHoloprosencephaly_sequence|not_specified0.624080.634380.512381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17013310062121749067GC282392BenignHoloprosencephaly_sequence..0.507791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17026782692127808226AT658064Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17036782682127808532GA658033Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17046782672127808909GA658044Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17056688772127810697CT658180Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17066782662127811042GA658049Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17076782522127811712GGCA658051Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17086782512127818021CT658090Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17091580192127819777CT167866Benign/Likely_benignAutosomal_recessive_centronuclear_myopathy|not...0.105510.1580.097240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17106782502127821085CT658219Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17116782492127821453GA658105Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17121580172127821499TC167864Benign/Likely_benignAutosomal_recessive_centronuclear_myopathy|not...0.287180.370370.345250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17136782482127821839GC658221Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17146782472127825968GA658224Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17156782462127826259AG658056Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17166781282127826632AG658106Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17176781272127833963CT658110Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17186781262127834136TC658058Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17196800922127834369CT658230Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17206781252127834384TC658231Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17216781242127834459TC658067Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17226781232127834528CT658233Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17236680232127834580GC658202Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17242558082128176040AT250153Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_de....0.451370.393171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17252558092128180872GT250154Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_de...0.722310.63430.645770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17262558102128184770TC250155Benign/Likely_benignThrombophilia,_hereditary,_due_to_protein_C_de...0.324080.282780.229830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17272609872128400608CT250158Benignnot_specified0.50640.603440.545130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17284755442128415109GA448571Benignnot_provided0.00161.0.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17291300642135893372AG135510BenignWarburg_micro_syndrome_1|Warburg_micro_syndrom...0.11241.0.214460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17301300672135911422TC135513BenignWarburg_micro_syndrome_1|Warburg_micro_syndrom...0.49070.517360.786740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17313311542136545448AACA281844Likely_benignLactose_intolerance|Congenital_lactase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17323311592136545844CG281846BenignLactose_intolerance|Congenital_lactase_deficiency0.787870.79670.739620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17333311642136546110AG284145BenignLactose_intolerance|Congenital_lactase_deficiency0.630480.621460.441490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17343311682136555659TC282507BenignLactose_intolerance|Congenital_lactase_deficiency0.617720.605810.442690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17353311722136561557GA281859BenignLactose_intolerance|Congenital_lactase_deficiency0.69560.75320.660140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17363312012136575157CT281883Uncertain_significanceLactose_intolerance|Congenital_lactase_deficiency0.000690.000630.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17373312022136575199GT284166BenignLactose_intolerance|Congenital_lactase_deficiency0.541140.555880.356030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17383312042136575534TC282521BenignLactose_intolerance|Congenital_lactase_deficiency0.97840.994350.979231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17393312072136590746CT281884BenignLactose_intolerance|Congenital_lactase_deficiency0.27026.0.355030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17403312102136594158GA281889BenignLactose_intolerance|Congenital_lactase_deficiency0.542290.548730.348441|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
174176852136608646GA22724associationLactase_persistence..0.161340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
174276862136616754CT22725associationLactase_persistence..0.163340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17433312722145145034AG284502BenignMowat-Wilson_syndrome..0.995811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17446703422145155731TC658232Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17456723682145161902AG658234Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17466703412145161936TG658237Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17471594832148716428TC168039BenignMeier-Gorlin_syndrome_2|not_specified0.31145.0.355830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17486831312149216661AG658139Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17493313502149270710AG284330Likely_benignIntellectual_Disability,_Dominant..0.449080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17506828972149835264GA658120Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17516693912149855325AG658152Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17526700172149857599TC658268Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17536839762149862261AG658134Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17543313732150426362TC282037BenignMethylmalonic_acidemia|Disorders_of_Intracellu.....0.553121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17553313742150426399AG282047BenignMethylmalonic_acidemia|Disorders_of_Intracellu.....0.996011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17562858472150432256AG270084Conflicting_interpretations_of_pathogenicityMethylmalonic_acidemia|Disorders_of_Intracellu...0.000920.002070.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17572606782150432377CG250172Likely_benignnot_specified0.622580.753970.62161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17586826222150432690TA658271Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17592038362150432976CT199984BenignMethylmalonic_acidemia|Methylmalonic_acidemia_...0.773950.868070.759591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1760951262152346979TC101026Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.418790.413580.334270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17612578042152348842TA250179Benignnot_specified0.26530.299290.201680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1762951222152349026GA101022Benignnot_specified|not_provided0.641850.662380.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1763951202152352843CG101020Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.62880.649940.62780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17642577922152374800GA250189Benignnot_specified0.592390.589540.535940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1765951162152382454CG101016Benignnot_specified|not_provided0.59528.0.545730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1766951142152387553TC101014Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.553870.583010.491610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1767951122152388415ATA101012Benignnot_specified|Nemaline_Myopathy,_Recessive|not......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17682577862152394534TG250194Benignnot_specified0.55980.58370.49880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17692577832152404294CT250198Benignnot_specified0.620390.640220.6240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1770951092152422076CG101009Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.649770.67070.653160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17713314632152424933TTA284405BenignNemaline_myopathy_2|Nemaline_Myopathy,_Recessi......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17722577662152435840CG250212Benignnot_specified.00.307510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17732577202152475938TG250255Benignnot_specified0.31596.0.24880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1774951022152476028CG101002BenignNemaline_myopathy_2|not_specified|Nemaline_Myo...0.268740.289110.219850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17752268482152490219AG228541Benignnot_specified|not_provided0.59877.0.6260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17762268472152490458AG228542Benignnot_specified|not_provided0.975690.992820.972051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1777951312152527572CT101031Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.661460.738560.533151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17781673362152531077AG177860Benignnot_specified0.817780.826490.716051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1779951282152536498TA101028Benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.698570.749940.583471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17802577672152552062AC250296Benignnot_specified0.62921.0.49881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17812578322152573902AAGGC250301Benignnot_specified.0.745420.569291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1782951362152573981AG101036BenignNemaline_myopathy_2|not_specified|Nemaline_Myo...0.686110.743750.569291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17833315582152690248GA282210BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy..0.87841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17843315742152691829CG284875BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy..0.460260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17853316102152694448AG282946BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy..0.105430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17863316142152694743CG284493BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy..0.039140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17873316192152695008ATA282291BenignEpisodic_ataxia|Juvenile_myoclonic_epilepsy...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17883316242152695178GTG282984Uncertain_significanceEpisodic_ataxia|Juvenile_myoclonic_epilepsy...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17893316532157181836CTGC284954BenignParkinson_Disease,_Dominant/Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17903316552157181925AC283004BenignParkinson_Disease,_Dominant/Recessive..0.286340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17913316852158593905CT282340BenignProgressive_myositis_ossificans..0.082070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17922574662158626980CT250303BenignProgressive_myositis_ossificans|not_specified0.91150.964190.913941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17932574642158636910GA250304BenignProgressive_myositis_ossificans|not_specified0.604720.750170.650961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17942184752160958349GAG215223Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17955877872162280748GA578942BenignHistory_of_neurodevelopmental_disorder0.786460.823050.758591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17962615662163124051CT250306Benignnot_specified0.46140.504710.356631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17972615652163128824TC250307BenignSingleton-Merten_syndrome_1|not_specified0.69160.676220.589861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17981676502165987772TG178049Benignnot_specified0.16292.0.181710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
17995865012165996107TA576575Benignnot_provided0.502920.506760.634580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1800954452166003479GA101344Benignnot_specified0.225280.221480.257390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18016842372166164887GA658142Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18026693592166166672CT658184Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18036708432166170073AG658190Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18041302162166170127TC135663BenignBenign_familial_neonatal-infantile_seizures|Hi...0.828690.801650.772361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18056842382166179357CA658151Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18062614002166179650CT250321Benignnot_specified0.596250.52050.50281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18076842392166180347TA658197Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18086693202166183214GT658154Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18096842402166187534TC658157Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18106693222166187635TG658329Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18116842412166199284TA658332Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18126693282166224047GA658225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18136693292166224105AC658228Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18146842432166224175GC658279Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18156842472166226358GC658175Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18166693302166226978AG658290Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18176842492166227107AG658245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18186842502166229396AG658336Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18196693602166229509CT658250Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18206706212166229930TA658177Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18216693612166231634AG658182Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18226693322166236870TGT658312Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18236687232166238034TC658317Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18243317562166248047GA283078BenignBenign_familial_neonatal-infantile_seizures|Ea.....0.383390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18253317782166605010AT282414BenignTumoral_calcinosis,_hyperphosphatemic,_familial..0.325281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18263318012166730387TC282447Likely_benignJoubert_syndrome|Jeune_thoracic_dystrophy..0.091051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18276719292166747785AG658189Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18286675772166768263TC658195Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18291306522166770120AG136098BenignJoubert_syndrome|Jeune_thoracic_dystrophy|not_...0.347530.330230.277361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18306675762166771381TC658198Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18316749662166771663CT658201Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18321306502166773971GA136096BenignJoubert_syndrome|Jeune_thoracic_dystrophy|not_...0.361270.333120.291731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18336749652166781242TTA658263Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18346708242166786530AATTTTAT658278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18351306602166788336TC136106BenignJoubert_syndrome|Jeune_thoracic_dystrophy|not_...0.945720.985260.948081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18366702552166801882TG658209Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18373318732166847034TC285246BenignEpilepsy|Familial_hemiplegic_migraine..0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18386693582166892346AG658226Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1839367532166892788CT45414BenignEpilepsy|Familial_hemiplegic_migraine|History_...0.723210.725210.788541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18404873622166893081GA480426BenignGeneralized_epilepsy_with_febrile_seizures_plu...0.732420.72220.788741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18416706202166894230TC658377Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18426693032166895725TC658379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18436749412166895819AG658311Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18446693012166896287TG658249Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18456842292166896362GA658313Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1846367522166897864AG45413BenignEpilepsy|Familial_hemiplegic_migraine|Generali...0.72336.0.788941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18473318902166897989GGA282540BenignEpilepsy|Familial_hemiplegic_migraine...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18486708422166898017GT658253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18496693002166899102TA658257Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18506842252166899878GA658343Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18516705992166900606AC658382Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18526842172166902103AT658324Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18536705982166903228CT658334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1854367512166903445TC45412BenignEpilepsy|Familial_hemiplegic_migraine|Generali...0.639630.703390.709271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18556692992166903660TC658335Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18566842162166903756CA658258Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18576749402166904025GA658349Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18586708412166904062GT658350Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18596705972166904346GA658337Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18604961142166905375AG486945Benignnot_provided0.476670.524820.4981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18613785102166905480GA365909Benignnot_specified0.63957.0.709071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18626749392166905572TA658351Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18636842152166907971CT658397Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18646842142166909104CT658354Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1865128972166909544CT27936drug_responseFebrile_seizures,_familial,_3a|carbamazepine_r.....0.493411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18666749382166909559CA658360Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18676692972166909695AG658277Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18686689722166911586TC658358Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18696692962166912757CT658369Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18706692952166914895AG658359Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18716692942166915335CA658364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18723319032167052328AG283192BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.088460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18733319072167052542CT284812BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.422320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18743319082167052555CTTAAAAAAGTTC282565BenignCongenital_Indifference_to_Pain|Paroxysmal_ext......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18753319132167052885TA283202BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.032351|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18763319212167053036CG284821BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.046730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18773319252167053386GA282571BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.083670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18783319262167053408CT283209BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.032350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18793319362167054063TTTG285321BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.088460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18803319382167054169GA283243BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.083470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18813319442167054409CCTT284837BenignCongenital_Indifference_to_Pain|Paroxysmal_ext.....0.046730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18823319482167054765CCA285329BenignCongenital_Indifference_to_Pain|Paroxysmal_ext......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18833319502167054934GGAATC282582BenignCongenital_Indifference_to_Pain|Paroxysmal_ext......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18841302702167056337CA135717BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.072040.061980.031950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18852588882167060449AT250346Benignnot_specified0.886960.885030.901361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18861676572167060980GAAACG178055BenignCongenital_Indifference_to_Pain|Paroxysmal_ext......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18871302662167089976TC135713BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.073690.07370.032150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18884402552167099158AG433906Benignnot_specified0.877450.869260.887181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18891676592167137119GA178056BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.561630.527350.545731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1890213442167141109GT34196Benign/Likely_benignPrimary_erythromelalgia|Generalized_epilepsy_w...0.021350.024030.012380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18911302572167144974AT135704BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.562370.494410.546731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18921302562167144995TC135703BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.386570.373040.354431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18931302542167145142AG135701BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.385160.3740.354431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18941302692167163043TC135716BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.71297.0.641170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18951302592167168093CT135706BenignCongenital_Indifference_to_Pain|Paroxysmal_ext...0.676910.58740.574280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18967818222167298093AG707826Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18973320132169779712TC285408BenignProgressive_familial_intrahepatic_cholestasis..0.507190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18983320142169779764CT282611BenignProgressive_familial_intrahepatic_cholestasis..0.506790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
18993320182169779896TC283364BenignProgressive_familial_intrahepatic_cholestasis..0.729231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19002591522169789016TC250356BenignProgressive_familial_intrahepatic_cholestasis|...0.45460.55570.496810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19012591482169801488AG250359Benignnot_specified0.752350.766330.855231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19022591472169814655GT250360Benignnot_specified0.450570.539850.49761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19031942142169830328AG191377BenignProgressive_familial_intrahepatic_cholestasis|...0.595780.579430.588660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19042591582169842809TC250364BenignProgressive_familial_intrahepatic_cholestasis|...0.739570.705310.774160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19051295022169997051GA134948BenignDonnai_Barrow_syndrome|not_specified0.601340.683890.559511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19061295012170003432TG134947BenignDonnai_Barrow_syndrome|not_specified0.604490.717640.555911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19071295002170010985TC134946BenignDonnai_Barrow_syndrome|not_specified0.801320.762130.777961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19081294932170025083AG134939BenignDonnai_Barrow_syndrome|not_specified0.151780.202620.19071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19091295262170092395AG134972BenignDonnai_Barrow_syndrome|not_specified0.377980.333740.461260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19102594182170096018GA250376Benignnot_specified0.341690.393280.444090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19112594162170099446TG250378Benignnot_specified0.53560.538310.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19121295192170099473TC134965BenignDonnai_Barrow_syndrome|not_specified0.503230.52310.581870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19132594142170099895AC250380Benignnot_specified0.55251.0.021170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19142594132170099899GA250381BenignDonnai_Barrow_syndrome|not_specified0.534680.53730.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19151295162170103336TC134962BenignDonnai_Barrow_syndrome|not_specified0.535750.538480.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19161295152170103351GT134961BenignDonnai_Barrow_syndrome|not_specified0.402430.492080.456470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19171295102170115588TC134956BenignDonnai_Barrow_syndrome|not_specified0.542750.546440.62240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19181295072170129528GA134953BenignDonnai_Barrow_syndrome|not_specified0.615020.624540.609631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19191295392170147502CG134985Benign/Likely_benignDonnai_Barrow_syndrome|not_specified0.05536.0.040340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19202594212170148745AG250382Benignnot_specified0.053740.061640.038940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19212594222170218816TC250383BenignDonnai_Barrow_syndrome|not_specified0.988530.996390.984631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19221295342170218847CG134980BenignDonnai_Barrow_syndrome|not_specified0.989240.997110.984631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19232626332170336024GC250384Benignnot_specified0.898360.910690.917531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19243322212171673475GA282779BenignCerebral_palsy_spastic_quadriplegic..0.175520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19251288892172291616CT134336BenignHypogonadism,_diabetes_mellitus,_alopecia,_men...0.274490.272320.306710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19261288922172330393AG134339BenignHypogonadism,_diabetes_mellitus,_alopecia,_men...0.191530.226660.206670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19271288872172336541CT134334BenignHypogonadism,_diabetes_mellitus,_alopecia,_men...0.190450.224280.206070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19283322802172338194GA283636BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.263270.206470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19293322812172338300TG285663BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.263130.206070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19303322972172339964CT285190BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.998610.977441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19313323002172340049TA283665BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.264310.206470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19323323062172340419TC285733BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.28250.271760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19333323112172340736CG285742BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.264820.206470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19343323132172341327AG282851BenignHypogonadism,_diabetes_mellitus,_alopecia,_men....0.263380.206470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19353323232172640734CT285205Likely_benignHypomyelination,_global_cerebral..0.101440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19363323442172693780GA285231Likely_benignHypomyelination,_global_cerebral|not_provided0.204830.267110.267370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19373323462172725301AG282898BenignHypomyelination,_global_cerebral|not_provided0.81470.856710.790941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19383323522173292379GA285786Likely_benignEpidermolysis_bullosa_junctionalis_with_pylori.....0.070090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19393323562173292709AG285264BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.32080.356040.50060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19403323572173292713CT285266BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.317460.346290.489020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19413323602173339808GA285272BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.312550.280960.25160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19423323652173344474AG283693BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.40812.0.407151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19433323712173352157AT283697BenignEpidermolysis_bullosa_junctionalis_with_pylori...0.04098.0.087060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19443323952173369231AG282931BenignEpidermolysis_bullosa_junctionalis_with_pylori.....0.633991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19453324182173370689TTA282948Likely_benignEpidermolysis_bullosa_junctionalis_with_pylori......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19467695752175292580TTCAAATTTATCAGT697167Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19474036082175436940GA389462BenignWiskott-Aldrich_syndrome_2|not_specified0.9230.941050.907951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19486791342175613115GA658373Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19496791332175613169AC658384Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19506791322175613600TC658388Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19513324452175614908CAAC283798BenignMultiple_pterygium_syndrome_Escobar_type|not_s......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19522572372175622788GA250401Benignnot_specified|not_provided0.997770.999330.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19536791292175622907TC658394Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19546680892175623763CT658395Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19552572352175624107GAG250402BenignMultiple_pterygium_syndrome_Escobar_type|not_s......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19566791282175624597GA658283Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19576791272175628847TC658284Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19586801212175629021CA658424Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19593324642175677022CT283832Likely_benignDuane's_syndrome0.359580.433540.336861|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19601931072176957822GA190272Benignnot_specified.0.368280.447880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19613325062176984454AT285895BenignVertical_talus,_congenital..0.253790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19626837482178257214GA658401Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19636837532178301167TC658405Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19646837562178305437AG658434Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19656837702178326952AG658436Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19666837752178358072CT658447Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19676837772178358233GT658411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19686837792178370040TC658412Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19693325492178404735TTAAAG283057BenignRhizomelic_chondrodysplasia_punctata...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19703325832178406481CT285569BenignRhizomelic_chondrodysplasia_punctata..0.696691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19713325852178406769AAT285580BenignRhizomelic_chondrodysplasia_punctata...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19723325922178407176CA283120BenignRhizomelic_chondrodysplasia_punctata..0.8771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19733325992178407897TC283878BenignRhizomelic_chondrodysplasia_punctata..0.87641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19743326112179296248CCACA286048BenignDystonia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19753326122179296381ACAATA283881BenignDystonia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19763326132179296511CT285621Uncertain_significanceDystonia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19773326152179296626GA283885BenignDystonia..0.214860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19783326182179296666TC283886Uncertain_significanceDystonia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19793326202179296821GA285627BenignDystonia0.209750.24498.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19804696122179296971GA449299Benignnot_provided0.008460.007820.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1981476912179395874CT56855Conflicting_interpretations_of_pathogenicityCardiomyopathy|Hypertrophic_cardiomyopathy|Dis...0.008690.008880.003190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1982474522179424558CT56616Benign/Likely_benignCardiomyopathy|not_specified|Cardiovascular_ph...0.008610.008920.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1983473672179432185AG56532Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.225860.236810.129991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1984472932179440029GA56458Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.23862.0.146571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1985472862179440367CT56451Uncertain_significanceLimb-girdle_muscular_dystrophy,_type_2J|Dilate...0.000160.00025.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1986472502179444768CG56415Benign/Likely_benignCardiomyopathy|Hypertrophic_cardiomyopathy|Dis...0.995620.998630.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1987472182179449131GA56383Benign/Likely_benignHypertrophic_cardiomyopathy|Limb-girdle_muscul...0.03170.025640.010780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19885951482179454626CT586210Uncertain_significancenot_provided8e-052e-05.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1989471202179462494AG56285Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.220010.234870.1271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1990468862179545859CT56051Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.226360.234730.1261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1991468592179554305CT56024Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.433490.399480.413341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1992467142179585266CT55879Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.981410.994960.982031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1993465902179600563GA55755Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.981030.994880.981831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1994477432179614952AG56907Benignnot_specified0.972550.99260.975041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1995477362179615887TC56900Benignnot_specified0.818060.827090.733031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1996477352179615931CG56899Benignnot_specified0.972450.992610.975041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1997477332179615994TC56897Benignnot_specified0.972470.992560.975041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
19986808212179617567CT658475Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1999478522179620951CT57016Benignnot_specified|not_provided0.902810.85080.804511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20001378322179621477CT141535Benignnot_specified|not_provided0.999170.999690.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2001465822179623758CT55747Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.902350.851170.808911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2002477072179629363TC56871Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.970320.99210.973641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2003476922179629461CT56856Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.896510.850020.804911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2004470632179642425GA56228Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.946490.958770.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2005470012179644035GA56166Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.950860.960580.920131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2006469732179644855TC56138Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.734890.694440.50021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20076808192179645577CT658485Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20086808172179649349GA658491Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2009467742179650701CT55939Benign/Likely_benignHypertrophic_cardiomyopathy|Distal_myopathy_Ma...0.3360.319220.204671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20106720452179650954GA658492Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20116720442179664050AG658662Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20126712112179667090CT658509Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20133329792182401566CT283440BenignRetinitis_Pigmentosa,_Recessive.0.998260.991411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20143329872182402031CT286027BenignRetinitis_Pigmentosa,_Recessive.0.998240.991411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20153330012182402790GA284119BenignRetinitis_Pigmentosa,_Recessive.0.768890.767570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20161668442182403851GA177576Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.993230.997480.991211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20172571492182413259AG250436Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.593130.623940.648360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20181668462182413602AT177577BenignRetinitis_pigmentosa_26|not_specified0.593110.618070.647960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20191668482182468818AT177578Benign/Likely_benignRetinitis_pigmentosa_26|not_specified|Retiniti...0.226630.16020.271170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20201668492182521578GA177579Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.402030.525710.507391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20218018392182543455TC790136BenignMaturity_onset_diabetes_mellitus_in_young...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20223330422182545218CT286090BenignMaturity_onset_diabetes_mellitus_in_young..0.778161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20236737822189849773AG658588Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20246709612189855674TA658634Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20256784602189856671CT658519Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20266833602189857336AG658693Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20271996942189859434CTC196782Conflicting_interpretations_of_pathogenicityEhlers-Danlos_syndrome,_type_4|Thoracic_aortic......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20286709642189860128CT658643Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20296709652189862203CT658541Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20306722362189864840CT658648Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20312549622189866199TA250446Benignnot_specified|not_provided0.701290.758660.776361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20326742742189867205GA658555Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20336833532189874223CCA658663Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20342265402189875421TG228910BenignEhlers-Danlos_syndrome,_type_4|Thoracic_aortic...0.994930.998510.996611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20356723102189899541TC658664Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20366709902189899572TC658674Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20376722872189900093CT658665Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20386812172189901060CT658679Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20392560042189901295GA250456Benignnot_specified|not_provided0.712780.724510.643371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20406812162189906743GA658758Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20416812152189913273CT658759Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20426812122189916513TC658593Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20436722862189918337TC658699Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20446709872189918787CT658599Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20456709862189923104AG658711Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20466722852189923401TC658603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20476722842189923434AC658606Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20482130772189923630ATA209545Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20496722832189925313GC658784Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20502559972189925548TA250461Benignnot_specified|not_provided0.962330.959290.942491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20516709842189927506CG658712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20526791692189928999CCAAGTA658710Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20536812112189930854GA658713Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20541369392189932764GA140642Benign/Likely_benignEhlers-Danlos_syndrome,_type_7A|Ehlers-Danlos_...0.039750.032410.011580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20556722822189936687TG658720Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20566812102189945414GA658608Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20571369682189963501GA140671Benign/Likely_benignEhlers-Danlos_syndrome_classic_type_2|Ehlers-D...0.006840.006380.004390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20584395402189974794GA433445BenignEhlers-Danlos_syndrome_classic_type_2|not_prov.....0.788541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20594395392189974958GT433444BenignEhlers-Danlos_syndrome_classic_type_20.939950.93220.888581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20606791682189975415TA658741Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20612604222190430177AG250469BenignHereditary_hemochromatosis|not_specified|not_p...0.501540.614250.550121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20627744112190617411TTA697214Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20633693222190648805GT353551Likely_benignLynch_syndrome..0.088060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20643331992190649316GC284296Likely_benignLynch_syndrome..0.219250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20653332232190921242GA286659BenignMyostatin-related_muscle_hypertrophy..0.031350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20663799862191161622TC366282Benignnot_specified|not_provided0.72420.739280.684311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20673799852191184475AG366807Benignnot_specified|not_provided0.55190.527870.431710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20683799842191184524CT366040Benignnot_specified0.656330.684310.548720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20694034952191922841GA389452Benignnot_specified0.570120.641540.496411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20704027482196673533AG389457Benignnot_specified0.963250.989350.961261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20714027532196791276TG389459Benignnot_specified0.487530.589330.480031|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20724027552196851911GA389470Benignnot_specified0.525630.631210.540740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20734027562196866420CT389460Benignnot_specified0.730280.828190.653751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20744027572196912067AG389467Benignnot_specified0.708470.7330.771770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20756715562198359027GC658840Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20761292412198362018TC134687Benignnot_specified|Spastic_paraplegia,_autosomal_do...0.695370.649010.654550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20771292432198363504AG134689Benignnot_specified|Spastic_paraplegia,_autosomal_do...0.164390.164260.158150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20781375672198364518GA141270Benignnot_specified|Spastic_paraplegia,_autosomal_do.....0.233230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20795877562200173684TG578967BenignHistory_of_neurodevelopmental_disorder0.933030.981970.930911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20803334182202050677AG284490BenignAutoimmune_lymphoproliferative_syndrome|not_sp...0.510150.45240.394171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20813334422202082459TA286508BenignAutoimmune_lymphoproliferative_syndrome|not_sp...0.442720.409880.329071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20823334712202084428CTC286531BenignAutoimmune_lymphoproliferative_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20833334762202085051TGT284569Uncertain_significanceAutoimmune_lymphoproliferative_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
208477632202097531TAGTAAGT22802protectiveLung_cancer,_protection_against..0.388981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20854024922202122995AG389468Benignnot_specified0.669470.66730.646370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20863335052202149696GA284615BenignCaspase-8_deficiency0.106180.1020.175320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20873335132202151439GC284626BenignCaspase-8_deficiency..0.554310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20883335202202151781TC283943BenignCaspase-8_deficiency..0.177720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20893335262202152243GGAT284641BenignCaspase-8_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20902573142202491995GA250479Benignnot_specified|not_provided0.25169.0.361820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20916675542202501205TC658841Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20922573172202501448TC250486Benignnot_specified|not_provided0.66860.656580.585060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20933335742202565570CT283960Likely_benignALS2-Related_Disorders|Amyotrophic_Lateral_Scl.....0.102440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20943335772202565681GA287069Likely_benignALS2-Related_Disorders|Amyotrophic_Lateral_Scl.....0.089660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20952613792202570232AG250492Benignnot_specified0.890640.923630.905951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20962613772202575821GA250494BenignALS2-Related_Disorders|not_specified|Amyotroph...0.890.923210.905351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20972613752202580370GA250496Benignnot_specified0.820530.830480.804110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20982613732202591157CT250498Likely_benignnot_specified0.01661.0.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
20992613692202593280GA250501Benign/Likely_benignALS2-Related_Disorders|not_specified|Amyotroph...0.076480.097850.115020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21002613682202598113CT250502BenignALS2-Related_Disorders|not_specified|Amyotroph...0.4680.527170.37240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21012613642202625615CT250505BenignALS2-Related_Disorders|not_specified|Amyotroph...0.861450.91060.896571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21026786842203329950AG658846Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21036760562203419859AG658748Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21041365282203420712GA140231Benign/Likely_benignPrimary_pulmonary_hypertension|not_specified0.025680.025160.009980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21053336822203427559CCA287174BenignPrimary_pulmonary_hypertension...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21063337152203430456TG286792BenignPrimary_pulmonary_hypertension..0.554310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2107169212204732714AG31960BenignDiabetes_mellitus,_insulin-dependent,_suscepti.....0.427321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21083337712206988452AT286845Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.079470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21093337742206988573CA284912Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.477240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21106830682206989170CA658032Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21116830492206990984AG658036Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21126695172206992987TC658163Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21136830482206995139CA658164Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21146830462206995240GA658167Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21156830452206997419GA658147Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21166830422206998050AG658169Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21176695162207003671TC658171Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21186830412207006466GA658041Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21191296952207006676TC135141Benign/Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.360530.310520.30990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21206827582207007127CT658173Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21216695142207007177GA658174Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21221296962207008763CA135142Benign/Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.50961.0.462260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21233337902207024107GC284926Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.380190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21243337942207630338CT284936Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.110420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21256839052207637364GA658751Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21263338112207656613AG284961Uncertain_significanceHepatic_failure,_early-onset,_and_neurologic_d.....0.013580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21273338252207657741GA286901Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.18530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21282600592208986385AG250511BenignCataract|not_specified0.937180.879240.81171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21292600612208986637TC250512BenignCataract|not_specified|not_provided0.89243.0.776761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21302600622208989037AG250514BenignCataract|not_specified|not_provided0.574430.596880.644771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21316771662209007559TG655409Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21326771652209010558AG655410Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21333338972209184980GA284315BenignFleck_corneal_dystrophy0.992150.997690.991811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21343338982209184999CT285012BenignFleck_corneal_dystrophy0.922140.959760.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21353339052209190330TC287364BenignFleck_corneal_dystrophy0.92242.0.911741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21363339092209190519AT287006BenignFleck_corneal_dystrophy0.922340.959720.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21373339102209190528CG287007BenignFleck_corneal_dystrophy0.923110.960060.912141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21383339172209191082CA284327BenignFleck_corneal_dystrophy0.922340.959610.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21393339182209191099TC284328BenignFleck_corneal_dystrophy0.994620.998470.996011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21403339282209209827GA285022BenignFleck_corneal_dystrophy0.921650.959550.910941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21413339302209212707GA284331BenignFleck_corneal_dystrophy0.683070.809860.716051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21423339322209214770AG284336BenignFleck_corneal_dystrophy0.921790.95960.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21433339342209215586AG284342BenignFleck_corneal_dystrophy0.921880.959610.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21443339412209220157GT287029BenignFleck_corneal_dystrophy..0.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21453339422209220238GC287467BenignFleck_corneal_dystrophy..0.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
214616202211060050TG16659BenignVery_long_chain_acyl-CoA_dehydrogenase_deficie....0.301090.211060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21473339972211074909TC287296BenignVery_long_chain_acyl-CoA_dehydrogenase_deficiency0.277260.301820.211660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21486714082211342138TG658854Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21491370262211342502GA140729BenignCongenital_hyperammonemia,_type_I|not_specified0.427570.506570.480830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21502036472211421452AATCT199986BenignCongenital_hyperammonemia,_type_I|not_specifie......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21516836112211438396GA658856Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21526836122211455342TC658858Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21532814762211456637ACCGCT265713Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21541288512211481257CG134299BenignCongenital_hyperammonemia,_type_I|not_specifie...0.66223.0.649160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21552584792211515058AT250536Benignnot_specified|not_provided0.357530.418570.422720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21566836162211523163AG658760Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21572584832211527827GTG250540Benign/Likely_benignCongenital_hyperammonemia,_type_I|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21581288522211540507CA134300BenignCongenital_hyperammonemia,_type_I|not_specified0.329160.303390.288540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21592036462211541721AG199993Benign/Likely_benignCongenital_hyperammonemia,_type_I|not_specified0.03737.0.019370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21603340422211543055TC287441BenignCongenital_hyperammonemia,_type_I..0.236220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21613340452211543147TG284568BenignCongenital_hyperammonemia,_type_I..0.268971|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21623340462211543401CG285250BenignCongenital_hyperammonemia,_type_I..0.245811|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21637692642212578379TAT777230Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21648018752215593261CTC,CTTT790173BenignFamilial_cancer_of_breast...1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
21652562142215632192GA250542Benign/Likely_benignNeoplasm_of_the_breast|Hereditary_cancer-predi...0.335310.36140.352240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21662154712215632255CATG212134Benign/Likely_benignHereditary_cancer-predisposing_syndrome|not_sp......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21672562132215634055CT250543BenignHereditary_cancer-predisposing_syndrome|not_sp...0.359530.381810.365220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21681427692215645464CG152483Benign/Likely_benignNeoplasm_of_the_breast|Hereditary_cancer-predi...0.531830.54870.459271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21693341962215657182TAAT285273Conflicting_interpretations_of_pathogenicityNeoplasm_of_the_breast|Hereditary_cancer-predi......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21701836982215674224GA181856Benign/Likely_benignNeoplasm_of_the_breast|Hereditary_cancer-predi...0.303140.437680.331270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21713342002215674341AG284585Likely_benignNeoplasm_of_the_breast0.785180.689510.745010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21723342042215796302GGACAA287669BenignCongenital_ichthyosiform_erythroderma...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21733342082215796568TC287676BenignCongenital_ichthyosiform_erythroderma..0.593851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21743342182215797332CT287697BenignCongenital_ichthyosiform_erythroderma0.387360.431350.398161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21752628332215812297GA250544Benignnot_specified0.523450.469680.523361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21762628312215820013GA250546BenignCongenital_ichthyosiform_erythroderma|not_spec...0.382210.405110.350041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21772628282215851246AG250549Benignnot_specified0.998850.999680.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21782628242215876166AT250553BenignCongenital_ichthyosiform_erythroderma|not_spec...0.997770.99940.99841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21798018932216190020CG790193BenignAICAR_transformylase/IMP_cyclohydrolase_defici......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21802259992216212339TC227829drug_responsemethotrexate_response_-_Efficacy.0.39660.285541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21817886972216289830GA708016Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21828018952216300482TA790195BenignSpondylometaphyseal_dysplasia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21833342802217277249CT284640BenignSchimke_immunoosseous_dysplasia..0.207870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21842606622219205471GA250572BenignParoxysmal_nonkinesigenic_dyskinesia_1|not_spe...0.065820.043870.051320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21853343322219209796CA284672BenignParoxysmal_nonkinesigenic_dyskinesia_1..0.274360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21863343422219210606TC287832BenignParoxysmal_nonkinesigenic_dyskinesia_1..0.476640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21873343452219210781GA287836BenignParoxysmal_nonkinesigenic_dyskinesia_1..0.468050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21887692652219266385GA697320Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21896696952219525335CT658817Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21903343622219646547AAC287853BenignCholestanol_storage_disease...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21912812202219924867GA265457Benign/Likely_benignBrachydactyly|not_specified|not_provided0.003150.004110.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21927801002220097286GA708050Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21937801012220099713CT708052Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21946807492220144410GC658820Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21951371182220145286CT140821Benignnot_specified0.27849.0.269770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21966807502220146196GT658678Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21976740222220146402CT658898Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21981371192220146651GA140822Benignnot_specified0.171770.149630.155350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
21996716772220147108GT658792Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22006807512220147732CT658793Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22016720132220282955CT658797Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2202360022220283259AG44666BenignCardiomyopathy|Scapuloperoneal_weakness|Myofib...0.897230.965210.886181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2203360032220283277TC44667BenignCardiomyopathy|Scapuloperoneal_weakness|Myofib...0.87939.0.866011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22042584912220284779CT250577Benignnot_specified|not_provided0.479630.616940.529351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22053693312220291474TC353560BenignScapuloperoneal_weakness|Myofibrillar_myopathy.....0.528361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22061949722220416942GC192134BenignThree_M_syndrome|not_specified0.435330.466810.387581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22072880142220417266CT272251BenignThree_M_syndrome_2|Three_M_syndrome|not_specified0.420030.468330.37661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22083344662220419236TC287705BenignThree_M_syndrome0.987750.996080.985221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22093344692220419339TC287707BenignThree_M_syndrome0.961390.985860.961061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22103344702220420785GA284807BenignThree_M_syndrome0.25997.0.229231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22113344752220420956AG284811BenignThree_M_syndrome0.969380.990080.963661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22123344932220422583GA287738Uncertain_significanceThree_M_syndrome0.010670.010130.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22133344962220422774AG288042BenignThree_M_syndrome0.45583.0.419131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22143345032220427395GA287767BenignThree_M_syndrome0.192090.202810.164141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22153345082220430203CT287769BenignThree_M_syndrome0.828230.865450.792731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22161933822220435034AG190546BenignThree_M_syndrome|not_specified0.820850.864420.783351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22172901292220435375GA274366BenignThree_M_syndrome|not_specified0.297450.444770.358830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22181954322223161889AG192593BenignCraniofacial_deafness_hand_syndrome|Waardenbur...0.846530.887160.904351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22196826272224821790AT658921Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22206826282224822669TC658799Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22216695052224824002CA658844Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22226826352224828298GA658926Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22233345702225335173GA285544BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.995610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22243345882225336050AG284901Likely_benignPseudohypoaldosteronism_type_1_autosomal_dominant..0.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22256833282227924774CT658689Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22266827982227942519AG658805Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22272549782228102723GC250620BenignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.35109.0.230230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22282549962228111435TC250625BenignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.770430.830220.796731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22292550012228113175AG250626BenignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.770130.83040.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22302550092228120800TC250631Benignnot_specified0.025770.027450.014180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22312550102228121101GT250632Benign/Likely_benignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.165770.166750.115821|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22322549852228135631CT250642BenignAlport_syndrome|Alport_syndrome_3,_autosomal_d...0.389010.469450.399961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22335855212228173078AG576665Benignnot_provided..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22343347922228176901AC285112BenignAlport_syndrome..0.729031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22353347992228177479CT288476BenignAlport_syndrome..0.847641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22363348082228177751GA288077BenignAlport_syndrome..0.268971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22373348092228177825CG288078BenignAlport_syndrome..0.916131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22383348172228178645CG288490BenignAlport_syndrome..0.916131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22393348212228178780AC285135BenignAlport_syndrome..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22406842442228194653CT658703Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22416842462228197488AG658849Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22426842512228207776CA658845Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22436842522228220769TC658716Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22443348342228550004GA285141BenignThiamine_Metabolism_Dysfunction_Syndrome..0.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22452151552228560800GAG210790BenignBiotin-thiamine-responsive_basal_ganglia_disea......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22466838572228564591AT658746Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22473693322228582746GA353561BenignThiamine_Metabolism_Dysfunction_Syndrome..0.535541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22483348962231036768TC288165Benign/Likely_benignHepatic_venoocclusive_disease_with_immunodefic...0.117560.100230.078870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22493348982231036866GA288166Benign/Likely_benignHepatic_venoocclusive_disease_with_immunodefic...0.10849.0.068090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22503349022231042276AG288174BenignHepatic_venoocclusive_disease_with_immunodefic...0.41750.425640.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
225155392231050715AG20578BenignMycobacterium_tuberculosis,_susceptibility_to|.....0.903951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22523349092231072709CT288178BenignHepatic_venoocclusive_disease_with_immunodefic...0.702290.708720.802520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22533349112231077112GA288179BenignHepatic_venoocclusive_disease_with_immunodefic...0.215290.210780.159150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22543349122231077154GA285894BenignHepatic_venoocclusive_disease_with_immunodefic...0.286940.237880.228830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22554034652231077725AG389491Benignnot_specified0.914810.909070.951081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22567678682233244930GC697393Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22571289572233349588GA134404Benignnot_specified0.958020.98320.962661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22586771802233385396GA655432Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22596771812233388813TG655433Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22606776642233389918AG658970Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22618019112233408220AGA790211BenignMultiple_pterygium_syndrome_Escobar_type...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22621940642233410294CT191227Benign/Likely_benignMultiple_pterygium_syndrome_Escobar_type|not_s...0.176460.186940.151960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22633350212233410922AG288732Likely_benignMultiple_pterygium_syndrome_Escobar_type..0.157350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22643350232233410994CT288738Likely_benignMultiple_pterygium_syndrome_Escobar_type..0.155150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22653350262233411016CTCTTTTTC285970Likely_benignMultiple_pterygium_syndrome_Escobar_type...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22663350292233630577GA288739Uncertain_significanceLeber_congenital_amaurosis..0.004990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22675183372233712049GA508778BenignParkinson_disease_110.641010.635130.605231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22685183402233712296GA508781BenignParkinson_disease_110.683210.644950.639981|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
226911302234183368AG16169BenignInflammatory_bowel_disease_10,_susceptibility_....0.45780.395970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22701676352234235749GC178039Benignnot_specified0.395480.44060.366810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22713350692234235820CT288347Benign/Likely_benignOguchi's_disease|Retinitis_Pigmentosa,_Recessi...0.129350.101470.106230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22721946062234255547GA191769BenignOguchi's_disease|not_specified|Retinitis_Pigme...0.308220.390920.302920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22732259932234580453ATA227745drug_responseSN-38_response_-_Other...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22744403842234590527TG434018Uncertain_significancenot_specified..0.297720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22754403852234590616CA434019Benignnot_specified0.34884.0.297320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22764403862234590970TG434020Benignnot_specified.0.588050.576280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22774403892234591205TC434023Benignnot_specified0.349220.351290.297720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22784403782234601669TG434012Benignnot_specified0.40420.39010.362220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22794403792234601965AG434013Benignnot_specified0.360530.351850.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22804403812234602191AG434015Benignnot_specified0.304630.313330.277560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22814403802234602202AC434014Benignnot_specified0.339920.345670.324680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2282122882234665659TG27327BenignGilbert's_syndrome|Gilbert_syndrome,_susceptib.....0.588060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22838107322234665782GA798981Likely_benignGilbert's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22842260292234668570CT227747drug_responseatazanavir_response_-_Other..0.354030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2285122892234672639GT27328Benign,_associationGilbert's_syndrome|Bilirubin,_serum_level_of,_.....0.347640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22868107332234672722TG798982BenignGilbert's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22873350842234681416TC285391BenignCrigler-Najjar_syndrome|Gilbert's_syndrome|Luc.....0.75241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22883350852234681544GC288359BenignCrigler-Najjar_syndrome|Gilbert's_syndrome|Luc.....0.821091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22893350862234681645GC288783BenignCrigler-Najjar_syndrome|Gilbert's_syndrome|Luc.....0.745011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22907793272237032574CT708124Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22913350892238232752CA285394BenignCollagen_VI-related_myopathy..0.68790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22923350912238232811TA286060BenignCollagen_VI-related_myopathy..0.155550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2293949002238233410CG100800BenignCollagen_VI-related_myopathy|not_specified0.13824.0.209860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2294950222238233483GA100922Benignnot_specified|not_provided0.252730.29080.229630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2295950182238243292GA100918BenignCollagen_VI-related_myopathy|not_specified0.362290.38840.346251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2296950142238243464CG100914BenignCollagen_VI-related_myopathy|not_specified0.835080.772880.792331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
22976792402238244575TC658901Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2298950082238244963AG100908BenignCollagen_VI-related_myopathy|not_specified0.696560.638620.636581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2299949982238249630CT100898BenignCollagen_VI-related_myopathy|not_specified0.367830.398750.342451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2300949682238258814CG100868BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.55890.548920.554311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23016792372238259675GA658999Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23026681092238265684CT658790Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23036812642238266146CT659005Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23046792312238266248GC658801Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23056792302238266633GA658939Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23066792292238267058GA658806Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2307949622238267717CT100862BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.249190.212890.330870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23086681082238268454AC659007Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23096807542238269871CG658818Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23106681072238270726AG658941Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2311949502238271882TTA100850BenignCollagen_VI-related_myopathy|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23126807532238274828CA659010Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2313949362238277573CA100836BenignCollagen_VI-related_myopathy|not_specified0.23435.0.265580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2314949332238277795AG100833BenignCollagen_VI-related_myopathy|not_specified0.347070.288880.388380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23156681062238278142GA658832Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2316949212238283605GA100821BenignCollagen_VI-related_myopathy|not_specified0.198060.232710.215860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23176792272238305211CT658833Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23183808072238322579AG367109Benignnot_specified..0.270170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23198019152240111870CGC790215BenignBrachydactyly-Mental_Retardation_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23203351522240897085CT285460Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.590451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23213351562240897331GA286135Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.255791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23223351742240898578CT288875Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.508391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23233351832240899346GA286170Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.286741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23243351932240900121CT288898Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency..0.24941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23252147022240900607TGT210797Benign/Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23266698852240944975CT659026Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23271296862240946766TC135132Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.367690.406440.356231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23286695072240954593CT658965Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23296698692240957734GA658960Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23301296852240961728TC135131Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.694530.666260.702481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23316695062240964393CCTC659031Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23327678762240985347GA697464Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
233350932241531174GA20132risk_factorDiabetes_mellitus_type_2..0.18550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23343352332241654958GA286218Likely_benignHereditary_sensory_and_autonomic_neuropathy_ty.....0.388780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23353352402241655544GA288531Likely_benignHereditary_sensory_and_autonomic_neuropathy_ty.....0.272360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23366704952241659368CA659052Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23376828472241660978TC658972Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23386714262241676929GT658981Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23396705352241680633GT659071Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23406828432241684660TC658996Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23416729322241685027GA658876Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23421293892241685586GA134835Benign/Likely_benignHereditary_sensory_and_autonomic_neuropathy_ty...0.05727.0.050320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23436729312241685673CT659075Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23446729302241690195CA659079Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23452842742241696840ATCCA268511Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23466729292241700307GT658887Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23476729282241700318CT658992Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23486710332241702561TA659008Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23496838952241710083AG659084Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23506828312241713429TC659017Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23511293962241713646AG134842Benign/Likely_benignHereditary_sensory_and_autonomic_neuropathy_ty...0.448560.386230.513580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23526726692241722970GA659090Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23536740822241726230CA659064Likely_benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23546733872241726646AG658923Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23552040332241808825AGGCCTCCCTA200480Uncertain_significancePrimary_hyperoxaluria,_type_I...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23562040412241810957CT200508Uncertain_significancePrimary_hyperoxaluria,_type_I..0.239821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23572040542241815473GA200569Uncertain_significancePrimary_hyperoxaluria,_type_I0.426160.482230.343250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23582040572241817322CT200584Uncertain_significancePrimary_hyperoxaluria,_type_I..0.25221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23592040632241818279CA200610BenignPrimary_hyperoxaluria|Primary_hyperoxaluria,_t...0.304470.35720.25221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23602040642241818527AC200611BenignPrimary_hyperoxaluria|Primary_hyperoxaluria,_t.....0.719851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23613353072242674104AG285583BenignD-2-hydroxyglutaric_aciduria..0.724440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23621584142242674803GA168055Benign/Likely_benignD-2-hydroxyglutaric_aciduria|not_specified|not...0.2736.0.226440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23631584152242674959TG168057Likely_benignnot_specified0.726720.684320.742410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23641584172242680430AG168059Likely_benignnot_specified0.56486.0.56471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23651584212242682029TC168061Likely_benignnot_specified0.284430.251550.237020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23661584232242684115TC168063Benign/Likely_benignD-2-hydroxyglutaric_aciduria|not_specified|not...0.559320.488360.56111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23678019222242688366CT790222BenignD-2-hydroxyglutaric_aciduria_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23681584042242690675GA168064Benign/Likely_benignD-2-hydroxyglutaric_aciduria|not_specified|not...0.270810.248860.223640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23691584112242707101AG168071Likely_benignnot_specified0.617510.529430.629991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23703353322242707638GA289020Likely_benignD-2-hydroxyglutaric_aciduria..0.098440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23713353382242707833CT285603BenignD-2-hydroxyglutaric_aciduria..0.532950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23723353492242708162CT288640BenignD-2-hydroxyglutaric_aciduria..0.232631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237376788331339680GGTTTTTG777335Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237440255031424718GA389529Benignnot_specified0.407270.444930.483430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237566958333170409GC659840Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237640357033170792CT389592BenignSideroblastic_anemia_with_B-cell_immunodeficie...0.901820.972230.904551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237767643333170966TC659841Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237868428233171023AG659968Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
237966958433171125GA659744Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238067143733179400AG659756Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238168428333181979TTA659849Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238267143833181987AT659670Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238368428433182485AG659671Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238468428533182500GC659970Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238567160533186719TG659853Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238668428733188901AC659684Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238766958533188914CG659974Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238838014533189279AG367091Benignnot_specified0.733770.798640.739020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
238938014633189398AG367093Benignnot_specified0.580340.5430.400760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239012885533215954AG134303Benignnot_specified0.881980.967280.883791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239134529534403153TG294907BenignMultiple_sulfatase_deficiency..0.481631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239234530334403357AC291214BenignMultiple_sulfatase_deficiency..0.880191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239334530434403364TCTCAT294486BenignMultiple_sulfatase_deficiency...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239434530834403537CT294930BenignMultiple_sulfatase_deficiency..0.428120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239534531034403614TC291220BenignMultiple_sulfatase_deficiency..0.295530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239634531234403767AG291221BenignMultiple_sulfatase_deficiency..0.704470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239755894334403817TTAC549550Benignnot_specified|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
23989655934403837AG102452BenignMultiple_sulfatase_deficiency|not_specified|no...0.653620.644050.760380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
239968413234404087AG660029Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240068412534459972AG659939Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240168411934461569GA659879Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240226300934461698CT251142Benignnot_specified|not_provided0.896280.961740.886781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240312929834712413GA134744BenignSpinocerebellar_ataxia_29|not_specified|Spinoc...0.680850.683230.614020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240480493934767262TC793026Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240512930134829732AG134747Benignnot_specified|Spinocerebellar_Ataxia,_Dominant0.304880.329420.245610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240612930234842231CT134748Benignnot_specified|Spinocerebellar_Ataxia,_Dominant0.230850.286810.264580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240712930334856180TC134749Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.802560.824420.790940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240812930434856234GA134750Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.595490.605450.587460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
240934590534888552AT295090Likely_benignSpinocerebellar_Ataxia,_Dominant..0.010180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
241034592934889440GT295184BenignSpinocerebellar_Ataxia,_Dominant..0.268771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
241168330138775153CT660042Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24123174638775457GA40406not_providednot_provided..0.224040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24133170938775661CT40369Benign/Likely_benignHypertrophic_cardiomyopathy|Long_QT_syndrome|R....0.301040.371010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24143170638788198AT40366Likely_benignHypertrophic_cardiomyopathy|Long_QT_syndrome|R.....0.348240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24153172038788336AG40380Likely_benignHypertrophic_cardiomyopathy|Long_QT_syndrome|R.....0.271570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24163170738788364CG40367Likely_benignHypertrophic_cardiomyopathy|Long_QT_syndrome|R.....0.322680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24173172738788485TA40387not_providednot_provided..0.836661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2418342394310141184CT291624BenignFanconi_anemia..0.206071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2419257063310142949CT250849Benignnot_specified0.307240.328130.214661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2420342397310183337GA291569BenignVon_Hippel-Lindau_syndrome..0.543331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2421342407310191943GA287967BenignVon_Hippel-Lindau_syndrome..0.557111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2422342424310192672GA287980BenignVon_Hippel-Lindau_syndrome..0.584671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2423342425310192709CT291585BenignVon_Hippel-Lindau_syndrome..0.556711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2424342451310193509AG287987BenignVon_Hippel-Lindau_syndrome..0.988021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2425342459310193683TG291602BenignVon_Hippel-Lindau_syndrome..0.548921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2426342491310194624GC288023BenignVon_Hippel-Lindau_syndrome..0.889981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2427342512310195293TTG288779BenignVon_Hippel-Lindau_syndrome..0.971051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
24285062310331457GT20101Pathogenic,_risk_factorMetabolic_syndrome,_susceptibility_to|Obesity,....0.085570.083270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2429343059312526188GT292416BenignPontoneocerebellar_hypoplasia..0.454471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2430667568312533335AC659464Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2431670254312573336AG659478Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2432670802312573998TC659482Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2433343086312574512GT292284BenignPontoneocerebellar_hypoplasia..0.421930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2434343092312625264CTGTTC,CTGTTTGTT289310Uncertain_significanceNoonan_syndrome|Noonan_syndrome_with_multiple_......1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
243540624312626516GA49094Benignnot_specified0.442410.350430.364620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2436561371312628920GC552548Benignnot_provided..0.178320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2437561370312632652GC552550Benignnot_provided..0.344650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2438561369312633083AG552551Benignnot_provided..0.180510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2439561823312633552TC552553Benignnot_provided..0.538540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2440561368312641518AG552556Benignnot_provided..0.538540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2441561588312647457AG552561Benignnot_provided..0.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2442561367312653233GT552569Benignnot_provided..0.194690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2443561587312653800AG552571Benignnot_provided..0.173320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2444561522312660466GC552573Benignnot_provided..0.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2445679865314166394TC659746Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2446672164314166835CT659555Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2447672172314166872CT659554Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2448669015314172827CT659751Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2449672173314173963GT659564Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2450671030314174146TC659662Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
245146148314174427AT55313Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.287560.320870.352640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
245246150314175262TC55315Benign/Likely_benignCardiomyopathy|Arrhythmogenic_right_ventricula...0.332770.372370.463260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2453671031314176446GA659571Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2454672174314177194TC659764Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2455672175314180552AG659771Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2456671209314180633CT659780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2457343511314183410TC288952Benign/Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.68911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2458343518314183758AG288959Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.092650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2459343523314184074AC288962Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.129990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2460343535314184669TC292665Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.104830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2461343536314184719TC289712Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.130590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2462343550314186757CG292973Benign/Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2463343551314186823TC288985Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven....0.128790.107830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2464343552314186830AT288989Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven.....0.108230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2465343560314187345GC289736Benign/Likely_benignXeroderma_pigmentosum|Arrhythmogenic_right_ven....0.353320.254990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2466190215314187449GT187973drug_responseXeroderma_pigmentosum|Arrhythmogenic_right_ven...0.642060.632540.68471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2467259471314187699TC250965Benignnot_specified0.654880.646680.694291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2468259470314188762GC250966Benignnot_specified0.42720.473170.327881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2469190214314190237TG187976BenignXeroderma_pigmentosum|not_specified|not_provided0.635340.630160.679711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2470259469314190268GC250967Benignnot_specified0.42688.0.327881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2471135469314193889CT139208BenignXeroderma_pigmentosum|not_specified0.265830.273410.235420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2472190212314197987AT187977Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2473135485314199887GA139224BenignXeroderma_pigmentosum|not_specified0.200580.237750.233030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2474259472314208625GC250973Benignnot_specified0.334040.321530.355630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2475259465314220095CG250975BenignXeroderma_pigmentosum|not_specified0.434680.421090.327881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2476343823315491756GA293420BenignCongenital_Myasthenic_Syndrome,_Recessive..0.388581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2477343828315492150CT293014BenignCongenital_Myasthenic_Syndrome,_Recessive..0.388581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2478343835315492636GA289150Likely_benignCongenital_Myasthenic_Syndrome,_Recessive..0.06170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2479343839315492786TA293024BenignCongenital_Myasthenic_Syndrome,_Recessive..0.452881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2480343840315492807GA289955BenignCongenital_Myasthenic_Syndrome,_Recessive..0.480231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2481128825315495386GA134274Benign/Likely_benignEndplate_acetylcholinesterase_deficiency|not_s...0.027060.029750.015180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2482679264315495644TC659854Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2483679263315495654AG659641Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2484668111315495764GA659646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2485679262315498261TC659856Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2486679261315498272GA659648Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2487128827315499713TC134276Benign/Likely_benignEndplate_acetylcholinesterase_deficiency|not_s...0.05705.0.052521|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2488679260315507761GA659858Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2489679259315508160TTCTGTC659866Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2490801939315509327CG790344BenignEndplate_acetylcholinesterase_deficiency...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2491259862315515695CT250990Benignnot_specified|not_provided0.474010.431390.479631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2492679257315515918CG659623Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2493259860315516481TC250992Benignnot_specified|not_provided0.370370.382520.385980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2494679255315516820CT659867Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2495259859315516910TC250993Benignnot_specified|not_provided0.368660.466520.385980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2496679253315517025GA659628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2497259857315518731GC250994Benignnot_specified|not_provided0.380960.455990.402361|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2498679251315518841GA659632Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2499679250315518889TC659873Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2500679249315520244CT659875Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2501679247315520639TG659635Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2502679246315520677GT659754Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2503128826315520838TC134275Benign/Likely_benignEndplate_acetylcholinesterase_deficiency|not_s...0.048130.031920.035740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2504668110315529405CA659757Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2505679245315529543TC659878Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2506679244315562801TC659886Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2507369412315563268CG353641BenignCongenital_Myasthenic_Syndrome,_Recessive..0.420130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
25081900315686693GC16939Pathogenic/Likely_pathogenicBiotinidase_deficiency|not_provided.0.031660.018570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2509344532324158647CT289816BenignThyroid_Hormone_Resistance..0.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2510344533324158691CT289819BenignThyroid_Hormone_Resistance..0.142370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2511344545324159387AG290576BenignThyroid_Hormone_Resistance..0.480230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2512344584324161493CT294308BenignThyroid_Hormone_Resistance..0.129790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2513344586324161713AGA289852BenignThyroid_Hormone_Resistance...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2514344613324163021TC293766BenignThyroid_Hormone_Resistance..0.505390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2515198422324184995GA195583BenignThyroid_Hormone_Resistance|not_specified0.153620.155550.157550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2516344640324270500GGA293815BenignThyroid_Hormone_Resistance...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2517198889325775356AC196049Benignnot_specified0.821930.840450.800321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2518774296326751736CT698018Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2519344653330648248CG290674BenignMarfan_syndrome|Loeys-Dietz_syndrome|Thoracic_.....0.12621|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2520683997330691473GA659943Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2521684002330692219TC659667Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2522684003330712827AC659732Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2523678626330729636GA659737Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2524161394330733044TA171083Conflicting_interpretations_of_pathogenicityConnective_tissue_disorder|Marfan_syndrome|Con...0.001380.0014.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2525344681330733838CG293839BenignMarfan_syndrome|Loeys-Dietz_syndrome|Thoracic_.....0.114820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2526380173331641835CA367350Benignnot_specified0.054620.068490.037140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2527683540332147913GA659761Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2528671016332147977TG659862Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2529260571332181761CT251091Benign/Likely_benignBrugada_syndrome|not_specified|Cardiovascular_...0.19030.128590.149761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2530678494332187880AG659863Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2531671832332187943GT659705Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2532671834332188006GA659706Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2533678496332200123AG659770Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2534671835332200233GA659709Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2535672397332200913GA659776Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2536344741332208039CT289976Likely_benignBrugada_syndrome..0.093650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2537344742332208121AC293909Likely_benignBrugada_syndrome..0.077680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2538344745332208352CT294385Likely_benignBrugada_syndrome..0.096450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2539344747332208431AG294388Likely_benignBrugada_syndrome..0.598440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2540344750332208467TG289987Likely_benignBrugada_syndrome..0.5010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2541344764332209230TC289999Likely_benignBrugada_syndrome..0.554310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2542344771332209750TC294397Likely_benignBrugada_syndrome..0.570290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2543344773332209927AG290755Likely_benignBrugada_syndrome..0.570290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2544167145333055721AG177749Benignnot_specified0.932640.980040.927121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2545558920333065715CG549548Likely_benignnot_provided0.01278.0.003590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2546678119333093190TC659781Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2547678118333093628AC659984Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2548677897333099880TC659724Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2549678493333109487TC659990Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2550678066333110190GT659883Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2551678065333110656TC659991Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
255292905333138544AG98812BenignMorquio_syndrome|GM1_gangliosidosis|not_specif...0.882560.905160.927721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
255392904333138549GA98811BenignMorquio_syndrome|GM1_gangliosidosis|not_specif...0.47396.0.431911|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2554674862333155385TC659728Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2555193339333155782GA190503BenignOsteogenesis_imperfecta_type_7|not_specified|O...0.1250.218740.2490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2556667634333156196TC659729Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2557669818333160990AATTT659735Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2558195265333161898CT192426BenignOsteogenesis_imperfecta_type_7|not_specified|O...0.165690.170370.282350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2559379754333165884TC367110Benignnot_specified0.003690.003910.00220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2560674863333171659AG659993Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2561259968333174156TG251097BenignOsteogenesis_imperfecta_type_7|not_specified|O...0.38436.0.293530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2562259969333174168GA251098BenignOsteogenesis_imperfecta_type_7|not_specified|O...0.384280.37510.293530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2563667635333174495AG659995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2564667636333174497GGA659740Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2565674864333175793CA659753Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2566675028333175854AG659762Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2567344831333185027GGGAACTA294471BenignOsteogenesis_Imperfecta,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2568344838333185407GA290810BenignOsteogenesis_Imperfecta,_Recessive..0.301921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2569344843333185798TA293982BenignOsteogenesis_Imperfecta,_Recessive..0.895971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2570344851333186356TC294489BenignOsteogenesis_Imperfecta,_Recessive..0.361020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2571344869333187425GA290109BenignOsteogenesis_Imperfecta,_Recessive..0.319890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2572344875333187831CT290115BenignOsteogenesis_Imperfecta,_Recessive..0.303711|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257389594337030175CA95068BenignLynch_syndrome..0.403950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257489600337034946GA95074BenignHereditary_cancer-predisposing_syndrome|Lynch_.....0.320490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257590024337038771CT95498BenignLynch_syndrome..0.308710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257690146337042960AC95620BenignLynch_syndrome..0.245010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257790227337048633AG95701BenignLynch_syndrome|not_specified..0.309310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257836557337053568AG45219BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.242970.232540.129590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
257990366337056990CA95840BenignLynch_syndrome..0.309310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258090368337057591CT95842BenignLynch_syndrome..0.245010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258189615337062040TC95089BenignLynch_syndrome..0.309310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258289611337062959GT95085BenignLynch_syndrome..0.290140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258389625337067050AG95099BenignLynch_syndrome|not_specified..0.246410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258489773337072627AC95247BenignLynch_syndrome..0.25320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258589785337078506AG95259BenignLynch_syndrome..0.245210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258689830337082874TC95304BenignLynch_syndrome..0.262980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258736542337083740AG45204BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.438330.371250.31230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258889983337090274CT95457BenignLynch_syndrome|not_specified..0.303910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
258989585337095070CT95059BenignLynch_syndrome..0.396970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2590402987337535984CG389600Benignnot_specified0.520450.572510.532750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2591402989337574951GA389568Benignnot_specified0.543440.572780.55910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2592257468338519424AG251100BenignHeterotaxia|Heterotaxy,_visceral,_4,_autosomal...0.522760.56830.480431|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2593257470338521156TC251101BenignHeterotaxia|Heterotaxy,_visceral,_4,_autosomal...0.441490.485310.356430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2594257467338524742CT251104BenignHeterotaxia|Heterotaxy,_visceral,_4,_autosomal...0.438570.485080.353241|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2595344937338525567TC290945BenignHeterotaxia..0.353440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2596344939338525734CT294052BenignHeterotaxia..0.610220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2597344940338525864AC290157BenignHeterotaxia..0.352240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2598344943338526166CAAC294576BenignHeterotaxia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2599344967338527215TC290957BenignHeterotaxia..0.385780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2600344974338527913CT290185BenignHeterotaxia..0.616210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2601344981338528537GT294662BenignHeterotaxia..0.353240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2602344991338529440CG294205BenignHeterotaxia..0.610820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2603344995338529818CT290974BenignHeterotaxia..0.353240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2604344996338529825CT290975BenignHeterotaxia..0.321880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2605345010338531211TG294237BenignHeterotaxia..0.447280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2606345025338532511GA294684BenignHeterotaxia..0.353240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2607345032338533335AC290212BenignHeterotaxia..0.447280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2608345077338590358CCT294718Likely_benignSick_sinus_syndrome|Long_QT_syndrome|Romano-Wa.....0.316890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2609345092338591059GA291055Likely_benignSick_sinus_syndrome|Long_QT_syndrome|Romano-Wa.....0.114420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2610345108338591689TC294382Likely_benignSick_sinus_syndrome|Long_QT_syndrome|Romano-Wa.....0.494410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
261148307338592406AG57470Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...0.431440.387810.492410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2612680772338597558AG659791Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2613680800338598459CT659801Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2614671861338598956AG659799Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2615680771338599037GA659902Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
261648297338622467TC57460Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...0.88497.0.923121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2617671859338627629AG659814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2618671843338627658TTCCC,TCC660041Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
2619678034338628642AG659913Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2620678033338628661CA659809Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
262148289338645420TC38447Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom....0.221740.230430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2622257437338646423CT251108Benignnot_specified0.184850.219160.175120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2623678604338646625CT659916Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
262448280338647642GT57444Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...0.166420.172230.151160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2625671842338647780GC659848Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2626671841338649924TC659919Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2627680765338654971GA659859Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2628671840338663707CT660060Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2629671839338664164TG660066Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2630680768338671474CT659824Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2631678603338671560AG659928Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
263248318338674712TC57481Benign/Likely_benignArrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...0.835960.773670.781751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2633259999338739574TC251110BenignBrugada_syndrome_1|not_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
263495404338739845AG101303Benignnot_specified0.930490.919910.924721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2635669293338749026TA659827Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2636259996338766675AG251113Benignnot_specified0.702520.658560.757990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2637259994338768247GA251115Benignnot_specified0.190070.234960.19050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
263895401338768300TC101300Benignnot_specified0.210290.240930.210660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2639669327338770639CG660090Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2640259993338784029TC251116Benignnot_specified0.697520.653680.757790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2641259992338793989GA251117Benignnot_specified0.203010.243020.207670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2642668846338796985AG659958Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2643259991338798171CT251118Benignnot_specified0.202370.234380.207470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2644669276338798836CT659898Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2645260000338802251AG251119Benignnot_specified0.305710.329870.388780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2646670898338813009TC659844Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2647260336338926912CG251120Benignnot_specified0.637320.55750.599440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2648260335338936134CT251121Benignnot_specified0.2046.0.153550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2649260334338945560AG251122Benignnot_specified0.607410.651450.612420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2650242801339307256CT23191...0.220930.144370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2651721354339307425AG734051Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2652281680339431081GA265917BenignRefractory_anemia_with_ringed_sideroblasts_(cl...0.369750.481990.416131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2653671096339432247CT660003Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2654403583341841716AC389614Benignnot_specified0.877040.851230.870011|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2655403584341925398CT389585Benignnot_specified0.68310.788480.68851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2656403585341925423TC389558Benignnot_specified0.923840.976950.919331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2657403586341937000CT389570Benignnot_specified0.673050.77850.68811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2658403587341938500GC389595Benignnot_specified0.924110.976890.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2659403588341939993TA389560Benignnot_specified.0.954640.698081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2660403589341957466TG389621Benignnot_specified0.67557.0.681311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2661403590341960006TC389563Benignnot_specified0.674730.784740.679911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2662403591341996136TC389597Benignnot_specified0.678390.786940.682111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2663226688342728144AG229062Benignnot_specified0.55990.648850.62260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2664682890342733174GC659937Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2665682889342733341TC659874Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2666226689342733468TC229063Benignnot_specified0.805170.816770.899761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2667262104343121559CT251133Benignnot_specified0.804320.786020.782751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2668262102343122966GA251138Benignnot_specified0.38497.0.452481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2669128388343591327GA133837Benign/Likely_benignSpinocerebellar_ataxia,_autosomal_recessive_10...0.055590.047930.036940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2670128387343602803CT133836BenignSpinocerebellar_ataxia,_autosomal_recessive_10...0.55690.65050.663140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2671260993343607136TC251139BenignSpinocerebellar_ataxia,_autosomal_recessive_10...0.526790.684960.636780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2672128386343618280TC133835Benign/Likely_benignSpinocerebellar_ataxia,_autosomal_recessive_10...0.067970.050770.048721|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2673345238343761368ATAGA294528BenignTriglyceride_storage_disease_with_ichthyosis...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2674345240343761441AG290409BenignTriglyceride_storage_disease_with_ichthyosis..0.548720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2675717832344828059CT720454Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2676684236345436473GA660032Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2677684161345459287TG660114Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2678684169345460914TC659941Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2679669494345461483AG660117Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2680684172345517799TC659891Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2681676142345527099CG660132Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2682226691345527218TC229072Benignnot_specified|not_provided0.774180.902570.782951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2683684174345527484TC659950Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2684684176345529865CT659951Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2685226693345533224GA229074Benignnot_specified|not_provided0.77426.0.782751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2686226698345557707GA229079Benignnot_specified|not_provided0.283720.285680.246211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2687226700345559519TC229082Benignnot_specified|not_provided0.851450.951510.849441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2688676144345559621CT659906Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2689226704345565554AG229089Benignnot_specified|not_provided0.868680.957540.860821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2690684184345565865GA660178Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2691676145345583297CT660184Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2692345340345796951CT291372Likely_benignHyperglycinuria..0.24820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2693345349345797785AG290496Likely_benignHyperglycinuria..0.964061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2694345365345798682CTTC291398Likely_benignHyperglycinuria...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2695345374345799126CT291401Uncertain_significanceHyperglycinuria...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2696345387345799871CT294639Likely_benignHyperglycinuria..0.963461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2697345390345799933AG290548Likely_benignHyperglycinuria.0.10.046920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2698345420345817418AG290570Likely_benignHyperglycinuria0.961710.956510.948881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2699345428345837886GC294713Likely_benignHyperglycinuria0.111560.127860.088460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2700345435345959515AT295094BenignCongenital_cataract..0.921731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2701345439345959759TC290594BenignCongenital_cataract..0.409940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2702345443345959999TAT295105BenignCongenital_cataract...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2703345445345960079CA291474BenignCongenital_cataract..0.921731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2704345459345960851CT291505BenignCongenital_cataract..0.399560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2705345469345961842CT295130BenignCongenital_cataract..0.920131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2706345481345962595CG295144BenignCongenital_cataract..0.385580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2707345484345962752TC291519BenignCongenital_cataract..0.81511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2708345486345962802TC294752BenignCongenital_cataract..0.942691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2709345487345962942CT295148BenignCongenital_cataract..0.409740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2710261734345996761GA251149BenignCongenital_cataract|not_specified|not_provided0.770950.792080.867210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2711261722346008790GA251159BenignCongenital_cataract|not_specified|not_provided0.333130.430320.395170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2712261738346009864CG251164BenignCongenital_cataract|not_specified|not_provided0.443180.567010.532950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2713261736346010077CT251166BenignCongenital_cataract|not_specified|not_provided0.83208.0.928121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2714261725346016851AT251167BenignCongenital_cataract|not_specified0.326850.430510.386980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2715261723346021218GT251168BenignCongenital_cataract|not_specified|not_provided0.658080.798930.762981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
27168184346414943TACAGTCAGTATCAATTCTGGAAGAATTTCCAGT23223BenignWest_nile_virus,_susceptibility_to|Resistance_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
271747962346751073TAAGT57126BenignDeafness,_autosomal_recessive_6|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2718345596346944274TC295275BenignMetaphyseal_chondrodysplasia|Chondrodysplasia0.679690.614070.643371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2719260575347033937CT251172Benignnot_specified0.465050.582940.472241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2720260582347043538CT251179BenignGray_platelet_syndrome|not_specified0.452450.565670.471651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2721345670347043730CT291769Conflicting_interpretations_of_pathogenicityGray_platelet_syndrome|not_provided0.0030.005660.00080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2722260584347044122AT251181BenignGray_platelet_syndrome|not_specified0.948860.987350.949281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2723260586347045739CG251183BenignGray_platelet_syndrome|not_specified0.4721.0.472051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2724260588347046842GC251185Benignnot_specified0.556710.561130.546531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2725260589347047176AAG251186Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2726260590347047358AC251187Benignnot_specified0.236570.298210.234030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2727345697347050908AGA294982BenignGray_platelet_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2728436678347103861GTTG,GT428201Likely_benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
2729135202347125385GA138941Benignnot_specified|not_provided0.47132.0.469851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2730475524347129609GA452755Benignnot_provided0.004310.003480.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2731586533347162661AG576751Benignnot_provided0.644780.63430.678321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2732345769348507667TC291833BenignAicardi_Goutieres_syndrome|Vasculopathy,_retin.....0.114821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2733255115348602523GGGGC251191Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2734255108348624611CT251198BenignDystrophic_epidermolysis_bullosa|not_specified0.475860.357260.430510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2735255107348625266TC251199BenignDystrophic_epidermolysis_bullosa|not_specified0.77364.0.681111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2736255103348628014GA251203BenignDystrophic_epidermolysis_bullosa|Recessive_dys...0.102260.119160.099040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
273792883348897078AG98790Benignnot_specified0.993310.991350.995211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2738683820348900347GA659914Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2739380004349137904GT367668Benignnot_specified0.634020.730370.757991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2740380775349507847GA367325Benignnot_specified..0.582871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2741226558349548008CG229102BenignLimb-girdle_muscular_dystrophy-dystroglycanopa...0.973010.992310.965861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
274231753349548294TC40413Benignnot_specified|not_provided0.973240.992480.965861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
274331754349568095GA40414Benignnot_provided..0.966051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
274431757349570882TC40417not_providednot_provided.0.563870.554111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2745668904349761571GA660047Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2746668902349761605CT660053Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2747668901349761613CT659920Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2748346060350233215TG291130BenignCongenital_Stationary_Night_Blindness,_Dominant..0.323880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2749346062350233317CT295475BenignCongenital_Stationary_Night_Blindness,_Dominant..0.216050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2750346070350234126AG292121BenignCongenital_Stationary_Night_Blindness,_Dominant..0.593850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
27517091350649499AT22130Affects,_risk_factorTuberculosis,_susceptibility_to|Susceptibility.....0.719851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2752478413352378540GC452896BenignSPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...0.035640.035950.030550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2753478430352383340CT452892BenignSPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...0.035650.034650.027760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2754402598352391735AC389573Benignnot_specified0.185070.188170.161140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2755402599352400740GC389631Benignnot_specified0.18652.0.152960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2756478382352426884CT453030BenignSPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...0.03923.0.029950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2757478396352429665CT453316BenignSPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...0.039310.038110.029950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2758402605352430698AG389649Benignnot_specified0.99549.0.996411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2759346111352435860GA292135Likely_benignTumor_susceptibility_linked_to_germline_BAP1_m.....0.028160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2760676905352441606AT660247Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2761671944352488202CT660250Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2762716630352514271CT720568Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2763346142353123032CT292152BenignCongenital_disorder_of_glycosylation..0.718450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2764346143353123079AT295729Likely_benignCongenital_disorder_of_glycosylation..0.169930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2765346172353125297GC295628Likely_benignCongenital_disorder_of_glycosylation..0.166930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2766346174353125429AT295786Likely_benignCongenital_disorder_of_glycosylation..0.147960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2767346175353125469GA291224BenignCongenital_disorder_of_glycosylation..0.650760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2768440191353220000AG433862Conflicting_interpretations_of_pathogenicitynot_provided0.0010.00089.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2769403345353220215GA390582Benignnot_specified0.296710.275740.282150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2770403346353222761CT390583Benignnot_specified0.758270.748050.713460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2771403347353223927CG390584Benignnot_specified0.933490.965470.901961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2772403348353224002TC390585Benignnot_specified0.939260.983480.94051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2773518347353766026TC508788BenignSinoatrial_node_dysfunction_and_deafness0.867060.888670.910941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2774226470353769479CT229117BenignSinoatrial_node_dysfunction_and_deafness|not_s...0.25450.299360.192290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2775346219355500700AG295678BenignRobinow_syndrome,_autosomal_dominant_1..0.06430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2776346220355500924TGT292266BenignRobinow_syndrome,_autosomal_dominant_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2777346223355501002GC291265BenignRobinow_syndrome,_autosomal_dominant_1..0.809511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2778346235355501843CCA292289BenignRobinow_syndrome,_autosomal_dominant_1..0.130590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2779346242355502251GA295824BenignRobinow_syndrome,_autosomal_dominant_1..0.12320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2780346260355503309ATA295848BenignRobinow_syndrome,_autosomal_dominant_1..0.12280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2781402505356591278TTGGGGTAAGCA390507Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2782402630357335876CT389587Benignnot_specified0.576870.618410.665141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2783402631357386148CG390439Benignnot_specified0.193290.299340.277361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2784402632357388114CT390440Benignnot_specified0.556940.536650.586461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2785402633357414071GA389575Benignnot_specified.0.544250.590451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2786402635357414434AG389613Benignnot_specified0.208940.318110.299921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2787402636357419497CT389577Benignnot_specified0.40210.500710.404151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2788402637357430988GA389618Benignnot_specified0.42860.529350.420931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2789402638357431985GA389622Benignnot_specified0.434080.537250.425121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2790402639357443817TC389580Benignnot_specified0.66820.718510.632391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2791402640357456371TC389593Benignnot_specified0.668420.716530.631591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2792402641357469097CT389651Benignnot_specified0.6590.712970.631591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2793402642357475351TG389594Benignnot_specified0.66864.0.633591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2794516749357882601CT500813Benignnot_specified0.210830.295940.299521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2795683067357994719TA660265Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2796670721358063303GC659986Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2797671372358063309GC660063Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2798671375358063331CT659987Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2799683105358108515TC659944Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2800683107358108551TC659947Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2801258106358109162GA251255Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.300630.373220.546130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2802671078358109748TA659949Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2803671079358109772AG659954Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2804671095358111761GA660007Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2805671101358112062GA660009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2806258110358112440AG251258Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.725590.70790.833270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2807258111358112488CT251259Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.402430.409090.648560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2808671102358116316AG660281Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2809683109358117375TG660013Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2810258114358118555GA251262Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.359990.395170.608230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2811671106358118935AG660107Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2812683137358122160TC660112Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2813258119358145263GA251266Benignnot_specified0.627250.669790.74860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2814258122358154327CT251269Benign/Likely_benignnot_specified|FLNB-Related_Spectrum_Disorders0.336770.38520.571290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2815683176358154671TC660026Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2816683177358156176GA660031Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2817346385358157519GC295902Likely_benignFLNB-Related_Spectrum_Disorders..0.693090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2818346397358413405TC295906BenignPyruvate_dehydrogenase_complex_deficiency.0.488870.367411|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2819346398358413408AG295935BenignPyruvate_dehydrogenase_complex_deficiency..0.18470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2820346399358413465GC292522BenignPyruvate_dehydrogenase_complex_deficiency.0.795020.741811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2821346400358413518TG292523BenignPyruvate_dehydrogenase_complex_deficiency.0.294440.200480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2822346402358413662GA291384BenignPyruvate_dehydrogenase_complex_deficiency.0.408360.367211|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2823346403358413669GT295938BenignPyruvate_dehydrogenase_complex_deficiency..0.204670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2824669536358415263TA660122Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2825129880358416535CT135326BenignPyruvate_dehydrogenase_complex_deficiency|not_...0.066050.283180.204670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2826559256358416538TC549911Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2827669535358417014GA660124Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2828128518363982082GA133967Likely_benignnot_specified0.39069.0.43770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2829346415364079930CT295948BenignProgressive_myoclonic_epilepsy..0.880991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2830346417364079994CT291387BenignProgressive_myoclonic_epilepsy..0.881391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2831346422364080489GA291393Likely_benignProgressive_myoclonic_epilepsy..0.104630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2832346436364081930TA292571Likely_benignProgressive_myoclonic_epilepsy..0.143771/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2833346438364081955TC291405BenignProgressive_myoclonic_epilepsy..0.911941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2834346439364082003GT292572Likely_benignProgressive_myoclonic_epilepsy..0.094850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2835346451364083122AC295958BenignProgressive_myoclonic_epilepsy..0.912141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2836130035364133182GA135481Likely_benignProgressive_myoclonic_epilepsy|not_specified0.068890.065560.054710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2837130137364133350AG135584BenignProgressive_myoclonic_epilepsy|not_specified|E...0.984470.994530.983831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2838162162364705365CT171875not_providednot_provided..0.713260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2839683875366270951GC659999Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2840683876366270961CT660000Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2841683906366396845GA660057Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2842672597366396898GGAAGAGTAGA660333Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2843683910366413111GT660338Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2844683922366413130TA660064Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2845671598366419883TC660033Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2846683936366419956CT655577Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2847683946366427885AG660149Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2848403054366433676AG389634Benignnot_specified0.608570.622750.694490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2849403055366434643TC389637Benignnot_specified0.230280.313310.362220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2850403057366550756GC389598Benignnot_specified0.814790.917030.719851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2851403058366550762GC389599Benignnot_specified0.81160.917870.719851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2852683801369054341TC655578Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2853683791369058783CT660085Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2854346554371004721GGT296049BenignIntellectual_Disability_with_Language_Impairme......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2855346618371007361GT296140BenignIntellectual_Disability_with_Language_Impairme.....0.738620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
285696228371015021GT102122Benignnot_specified0.941260.945180.974641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2857346653371408319CT296189BenignIntellectual_Disability_with_Language_Impairme.....0.12240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2858346667377089395TC296180BenignVesicoureteral_reflux..0.486820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2859346732377696422CT296283BenignVesicoureteral_reflux..0.577881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2860346754377697943GA296295BenignVesicoureteral_reflux..0.683111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2861346763377698442GA296254BenignVesicoureteral_reflux..0.582471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2862346781381539382CT293004BenignGlycogen_storage_disease,_type_IV|Polyglucosan.....0.309111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2863197636381698130TC194797BenignGlycogen_storage_disease,_type_IV|Polyglucosan...0.293220.37460.321490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
286498000387295049TC103892BenignFrontotemporal_dementia|not_specified|not_prov...0.820310.906010.81571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2865346829387308831CT291712BenignFrontotemporal_dementia|Combined_Pituitary_Hor.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2866346833387308904TA291719Benign/Likely_benignFrontotemporal_dementia|Combined_Pituitary_Hor......1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2867346836387308905AT291720Benign/Likely_benignFrontotemporal_dementia|Combined_Pituitary_Hor.....0.175120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2868346871393592569TG296359Likely_benignProtein_S_deficiency..0.760381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2869255811393593119TC251293Benign/Likely_benignProtein_S_deficiency|not_specified|not_provided0.321160.426830.385180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2870128452393768268CG133901Benign/Likely_benignJoubert_syndrome|Joubert_syndrome_8|not_specif...0.086960.100970.077680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2871346944397517118GC296459BenignBardet-Biedl_syndrome|Retinitis_Pigmentosa,_Re.....0.957871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2872769275397594261GA698308Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2873769276397595379GA698309Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2874346955398298600CT293139BenignHereditary_coproporphyria..0.31530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2875346958398298948TTTAAGAA293174BenignHereditary_coproporphyria...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2876346967398299365TG296499BenignHereditary_coproporphyria..0.329870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2877346977398304467TC296501BenignHereditary_coproporphyria0.743890.706520.753991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2878346979398307696TG296470BenignHereditary_coproporphyria|Acute_Porphyria0.238350.174130.245810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28796705873100428460GC655490Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28806707463100439124TGT659417Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28816675503100455139TC659419Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28826707473100455609TGT659422Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28834403333100467018TC433969Benignnot_specified0.655080.699270.713060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28843422773100942033AT291465BenignRetinitis_Pigmentosa,_Recessive..0.81290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28853422993100944076AG291657Likely_benignRetinitis_Pigmentosa,_Recessive..0.135780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28863423023100944224TC287878Likely_benignRetinitis_Pigmentosa,_Recessive..0.137180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28873423083100944932AG287884Likely_benignRetinitis_Pigmentosa,_Recessive..0.137180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28883423163100945245GT291663BenignRetinitis_Pigmentosa,_Recessive..0.81290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28893423243100945433GT287897BenignRetinitis_Pigmentosa,_Recessive..0.838060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28903423373100949842GA291531BenignRetinitis_Pigmentosa,_Recessive0.795480.791060.81290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28913425143111260975CT288051BenignC_syndrome..0.458871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28923425433111356083GC288080BenignC_syndrome0.995390.998820.996611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28933425623111369473AG291866BenignC_syndrome..0.906151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28943425743111370206CT291888BenignC_syndrome..0.941891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28957748463112732195CT697754Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28963425983113858350CT291920Likely_benignHereditary_Essential_Tremor0.95733.0.957871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28975129833113876275GA500408Benignnot_specified..0.588660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2898167703113890815CT31809Likely_benignEssential_tremor,_susceptibility_to|Schizophre....0.656830.513581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
28993426203119013558GA288882BenignAdams-Oliver_syndrome..0.303710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29003426223119013603GA288132Likely_benignAdams-Oliver_syndrome..0.009190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29013426393119118104AG291961BenignAdams-Oliver_syndrome.0.9999611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29023426493119128398GA291872BenignAdams-Oliver_syndrome0.157860.170610.18770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29033426583119133183GA291972BenignAdams-Oliver_syndrome|not_specified0.831610.808280.845650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29043426883119136096AAC291989BenignAdams-Oliver_syndrome..0.780350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29053427233119137855AG288237BenignAdams-Oliver_syndrome..0.761180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29062554813120389316TA250852BenignAlkaptonuria|not_specified0.743420.735330.731631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29077800303121208887TG708494Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29083427683121488995CG288275BenignRenal_dysplasia_and_retinal_aplasia..0.621210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29092570923121489439TAT250853Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29102570903121500699CT250855BenignRenal_dysplasia_and_retinal_aplasia|Senior-Lok...0.237040.288930.302721|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29111984443121526204GA195605BenignRenal_dysplasia_and_retinal_aplasia|not_specif...0.652490.627480.620010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29123427843121553852GCTCCCAG292112BenignRenal_dysplasia_and_retinal_aplasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2913441413121712051AC53309Benignnot_specified0.747810.739450.784941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2914441453121712805GC53313Benignnot_specified0.30855.0.352040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2915357993121976253GA44463BenignFamilial_hypocalciuric_hypercalcemia|not_speci...0.912350.943710.921931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29161667983122003045GC177553Benignnot_specified0.972010.99160.972841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29171667993122003832GC177554Benignnot_specified0.917810.944630.924121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29183428063122004098AT288311BenignHypocalcemia|Familial_hypocalciuric_hypercalce.....0.920131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29193428093122004218TTA292174BenignHypocalcemia|Familial_hypocalciuric_hypercalce......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29203428103122004612CG292175BenignHypocalcemia|Familial_hypocalciuric_hypercalce.....0.968651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29213428153122005053AG288319BenignHypocalcemia|Familial_hypocalciuric_hypercalce.....0.181510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29223428203122005236TC292050BenignHypocalcemia|Familial_hypocalciuric_hypercalce.....0.533151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29238019973123047666AG790321BenignDyskinesia,_familial,_with_facial_myokymia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29243428233123331143TC292195Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_.....0.444090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29253428453123332186AAT292071Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29263428493123332340GT289127Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection..0.495610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29273428533123332546CG288338Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection..0.351640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29282267713123357037AG228984Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.197910.218250.37440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29292267703123368013AG228986Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.224590.230370.396170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29302267643123411589GA228992Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.563360.578320.332671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29311949033123418913GA192065Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.941640.982420.947881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29322267573123440967GA229000Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.90880.972190.913541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29334096953123444833CT393266Conflicting_interpretations_of_pathogenicityConnective_tissue_disorder|not_specified|Cardi...0.000230.00039.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29342267553123451773GC229002Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.998620.999620.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29352267533123452838GA229004Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.574350.656650.632791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29361986063123457893GA195767Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_...0.872440.94450.856231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29373429113123550463GA292179Benign/Likely_benignAortic_aneurysm,_familial_thoracic_7|Thoracic_.....0.145970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29383429133123595432GA292298Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection..0.669730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29391001243124449209AG106001BenignOrotic_aciduria|not_provided.0.603410.55910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29401001253124449252TC106002BenignOrotic_aciduria|not_provided..0.461460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29411001263124449291AG106003BenignOrotic_aciduria|not_provided0.528760.596860.56010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29421001283124458816CG106005not_providednot_provided..0.647170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29431001303124462710GC106007not_providednot_provided0.24904.0.242810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29443429423124463657CT289191BenignOrotic_aciduria.0.469560.534550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29453429533124464142CA288466BenignOrotic_aciduria.0.26090.271760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29463429543124464215ATA288468BenignOrotic_aciduria...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29473429653124464642TG288478BenignOrotic_aciduria.0.229270.244810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29483430113124466520CT292236BenignOrotic_aciduria.0.228790.242010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29493430213124467069TG292369BenignOrotic_aciduria.0.938860.962460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29503430273124467209GA289269BenignOrotic_aciduria.0.228730.242610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29513430283124467247CA288507BenignOrotic_aciduria.0.278210.345050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29525080983127323830CT500279Benignnot_specified0.6770.684640.596051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29535080993127336934AG500057Benignnot_specified0.822620.755230.789941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29545397253128200459TC518873Benignnot_provided..0.69011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29552575633128205860GC250906BenignLymphedema,_primary,_with_myelodysplasia|not_s...0.69340.694320.709861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29563431673128532454AG292548Likely_benignCharcot-Marie-Tooth_disease,_type_2..0.051520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29573431893128598469CGTC292405BenignAcyl-CoA_dehydrogenase_family,_member_9,_defic......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29586827333128612113AC659485Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29596779203128612659GC659489Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29606827343128612830CA659490Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29611666343128614133CT177459Benignnot_specified0.580890.54370.658150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29621666353128614185AC177460BenignAcyl-CoA_dehydrogenase_family,_member_9,_defic...0.450250.40180.543330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29636735693128614563TTCTC659496Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29646779233128624772TC659587Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29656779243128625318CT659506Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29661666363128627021AG177461BenignAcyl-CoA_dehydrogenase_family,_member_9,_defic...0.434110.375150.518170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29676779253128627623GA659494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29683432033128627933CT292606BenignAcyl-CoA_dehydrogenase_family,_member_9,_defic...0.234430.253310.31030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29692622673129195663CT250914Benignnot_specified0.112260.080510.12281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29701949013129210977GC192063BenignCranioectodermal_dysplasia_1|Cranioectodermal_...0.38359.0.536541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29712563833129247551AG250919Benignnot_specified|Congenital_Stationary_Night_Blin...0.379290.28690.528361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29723432863129252685ATA292690BenignCongenital_Stationary_Night_Blindness,_Dominan......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29733433023129253473AG288745BenignCongenital_Stationary_Night_Blindness,_Dominan.....0.520971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29743433033129253486TC289494BenignCongenital_Stationary_Night_Blindness,_Dominan.....0.109631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29752601133129695538CT250924Benignnot_specified0.953020.98680.957671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29762601163129695954TC250926Benignnot_specified0.952830.986990.958071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29772601173129696041AG250927Benignnot_specified0.95260.986730.958071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29786785133131217318GA659606Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29796785123131219070CT659515Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29808013553132360883CT789736Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29816676793132424780AG659519Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29823434223133465283AG288854BenignAtransferrinemia0.575090.622930.666130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2983126173133494354CT27656BenignAlzheimer_disease,_susceptibility_to|Transferr....0.160160.156350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29841287123134225969TC134161Benignnot_specified0.145550.172760.171931|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29851287063134266321AG134155Benignnot_specified0.338380.298620.276760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29862107013134277195AAT207051Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29876833653135968828GC659538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2988932313136002809TC99138Benignnot_specified|not_provided0.168460.160780.109030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29892563763136035737AG250958Benignnot_specified0.38890.304540.286340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29906833763136036226AG659731Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29916833793136047977AG659636Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29924032453138033181CT389543Benignnot_specified0.666920.714180.702081|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29936826373139069523CGC659739Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29946781363139069569TC659742Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29956780103139070112AG659550Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
2996936693142168331CT99572Benign/Likely_benignSeckel_syndrome|not_specified|not_provided0.897820.864610.916331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29971364703142178144CT140173Benign/Likely_benignSeckel_syndrome|not_specified|not_provided0.134170.132790.102240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29981579983142215171TC167845Likely_benignnot_specified0.002620.05942.1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
29991579973142215178AC167844Likely_benignnot_specified0.61402..1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30006781063142221956AG659595Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30016782043142222074CT659596Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30021579923142222284AG167839Benign/Likely_benignSeckel_syndrome|not_specified|not_provided0.349570.363980.31250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30036704413142230846AG659580Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30046680213142232743AT659675Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30056781053142233990TC659793Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30066781043142234589CA659797Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30071579793142255090TC167826Benignnot_specified|not_provided0.143960.137380.117210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30086680203142271797AC659603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30096704403142272314GA659681Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30106704393142273032TC659804Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30116782023142274534CT659688Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30121579673142277427AG167814Likely_benignnot_specified0.140190.074520.112221/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30131579663142277536AG167813BenignSeckel_syndrome|not_specified0.345760.35160.31070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30141579653142277575AT167812Benign/Likely_benignSeckel_syndrome|not_specified|not_provided0.6630.552930.598041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30156680193142279796TC659605Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30166800333142280923GGT659690Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30176800323142280925GGT659691Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3018936683142281612AG99571Benign/Likely_benignSeckel_syndrome|not_specified0.662310.553980.597441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30193794543143293012AG368245Benignnot_specified0.294790.288240.340661|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30203436353145787657GA289787Likely_benignBruck_Syndrome..0.120410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30213436433145788467TC289052BenignBruck_Syndrome0.518390.503060.511180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30226749313145788803TC659584Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30236843063145794325TTGCTAAACTAATTTA659585Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30246843043145795419GC659592Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30256749293145795559AG659594Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30262630733145796891TC250976BenignBruck_Syndrome|Bruck_syndrome_2|not_specified0.252270.27090.24840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30276749283145803138TC659805Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30286749273145803142TA659811Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30296749263145804524CA659718Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30306843013145809329TC659719Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30316749253145809750TC659611Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30326842903145810011AC659614Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30336842893145821806AG659816Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30346715123145824025TC659615Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30356749243145824478AG659599Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30366749233145824504GA659600Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30376749223145828256GGT659610Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30386842863145828524GA659818Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30392630743145838895CT250977BenignBruck_Syndrome|Bruck_syndrome_2|not_specified0.782560.766610.781751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30406749213145841854TC659733Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30412567593148459395CT250978BenignRenal_dysplasia|not_specified0.381520.483710.458070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30422567583148459884AG250979BenignRenal_dysplasia|not_specified0.123480.065530.106830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30433436833148460339GT293169Likely_benignRenal_dysplasia..0.057710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30443436863148460700GA289075BenignRenal_dysplasia..0.670731|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30456761303148726933GA659747Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30463799803148727133GA368262Benignnot_specified|not_provided0.294330.312490.301321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30471636683148872987GA173759BenignHermansky-Pudlak_syndrome|not_specified0.513920.456620.490220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30483437363148890344GA289092Likely_benignHermansky-Pudlak_syndrome|Deficiency_of_ferrox.....0.022960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30492848633148899824GC269100Conflicting_interpretations_of_pathogenicitynot_specified|not_provided0.004540.003810.00240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30501989923148916235TA196152Benignnot_specified0.855870.916490.862221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30513438013150644839TG289917Likely_benignRetinitis_pigmentosa-deafness_syndrome|Retinit....0.072250.154750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30523438043150645351GA289139BenignRetinitis_pigmentosa-deafness_syndrome|Retinit....0.603750.777761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30533438053150645408GA289140BenignRetinitis_pigmentosa-deafness_syndrome|Retinit....0.629280.776761|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30546787993150646230AG659832Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30556724253150646279AT659843Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30566787753150661472AT659625Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30576787743150661495TC659617Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30583438183150690566TC289938Likely_benignRetinitis_pigmentosa-deafness_syndrome|Retinit....0.550.469251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30592616333151056598AC250982Benignnot_specified0.878830.87030.911541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30607741723155200461GA697905Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30613438903155572129CT293068BenignSpastic_paraplegia,_autosomal_dominant..0.489421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30626697433158362038GT659759Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30633439193158362441TC293119BenignCombined_oxidative_phosphorylation_deficiency|...0.5990.630180.583070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30643439253158366900GA289259BenignCombined_oxidative_phosphorylation_deficiency_...0.598420.546710.583270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30656697513158371406GA659647Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30666697533158383882TC659894Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30673439383158409262CT290043BenignCombined_oxidative_phosphorylation_deficiency|...0.449090.36570.409150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30683439403158409482CT293575BenignCombined_oxidative_phosphorylation_deficiency..0.583270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30693439463158409947TA293593BenignCombined_oxidative_phosphorylation_deficiency..0.409150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30702155293159976432GGA212292Conflicting_interpretations_of_pathogenicityJeune_thoracic_dystrophy|not_specified|not_pro......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30713440483164764719CA290170BenignSucrase-isomaltase_deficiency0.55943.0.608631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30723440543164773057GA293693BenignSucrase-isomaltase_deficiency0.561970.613760.619011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30733440593164777677TG290175BenignSucrase-isomaltase_deficiency0.560660.613840.617211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30743440653164783165TC289400BenignSucrase-isomaltase_deficiency0.55820.613530.616011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30753440733164786629TAT289414BenignSucrase-isomaltase_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30763440793165490876GGA289421BenignDeficiency_of_butyrylcholine_esterase...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3077132203165491280CT28259Likely_benignButyrylcholinesterase_activity|Deficiency_of_b....0.189120.158550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30785906683167452504AG581313Benignnot_specified..0.285940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30793441183167506937CG293751BenignEncephalopathy,_familial,_with_neuroserpin_inc...0.125560.097930.114220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30803441203167506967AG290239BenignEncephalopathy,_familial,_with_neuroserpin_inc...0.125480.097990.114220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30813441303167510472GA293763BenignEncephalopathy,_familial,_with_neuroserpin_inc...0.125560.098460.115020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30823441373170714435GA290253BenignFanconi-Bickel_syndrome..0.18590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30833441383170714470AT293768BenignFanconi-Bickel_syndrome..0.200680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30841303483170715830GA135795BenignFanconi-Bickel_syndrome|not_specified|not_prov...0.39643.0.37260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30852559003170723276GA251003BenignFanconi-Bickel_syndrome|not_specified|not_prov...0.221970.150140.199280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30861303493170732300GA135796BenignFanconi-Bickel_syndrome|not_specified|not_prov...0.239660.153960.215260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30873441823172161842CA293372BenignShort_stature,_idiopathic,_autosomal..0.81430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30883441863172162117GT289521BenignShort_stature,_idiopathic,_autosomal..0.588660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30893441963172162829GA290310BenignShort_stature,_idiopathic,_autosomal..0.588860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30903441973172162837TC293388BenignShort_stature,_idiopathic,_autosomal..0.819090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30912631093172166033GA251010BenignShort_stature,_idiopathic,_autosomal|not_speci...0.636880.655480.540141|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30926981463172166060GA686364Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30933442043172631512GA289538Uncertain_significanceSpermatogenic_Failure0.018070.020060.009380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30943442163172766822GA293864Likely_benignSpermatogenic_Failure0.174840.158180.171530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30952599573178922274CA251012Benignnot_specified0.669730.56140.584670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30962239073178938153AG225635Likely_benignHereditary_cancer-predisposing_syndrome..0.008190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30973442433180332164GT293875Uncertain_significancePrimary_ciliary_dyskinesia..0.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30981628393180334623CT173902Benign/Likely_benignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.18180.176430.131390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
30993442673180365043TTA289573Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31001628423180365956GA173763BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.34692.0.318890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31016842103182733547TC659654Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31026842093182735311CT659897Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31036842073182738287GA659663Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31046842063182743267CA659772Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3105959413182755209TG101837Benign3-MCC_Deficiency|3_Methylcrotonyl-CoA_carboxyl...0.584810.624850.464860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31066842053182757178TC659773Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31076842023182759755CT659668Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31086842013182763016CT659679Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31096842003182763580GA659778Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31106841983182775397CT659903Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31116841973182789367TC659783Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3112959433182790249GA101839Benign3-MCC_Deficiency|not_specified0.885340.929740.915541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31138020313182810144TG790368Benign3_Methylcrotonyl-CoA_carboxylase_1_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31143443183182817328CG289643Benign3-MCC_Deficiency..0.544931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3115943813183861243AG100281BenignLeukoencephalopathy_with_vanishing_white_matte...0.328160.349830.389980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31163443433183863084AAGA289663BenignLeukoencephalopathy_with_vanishing_white_matter...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31175183443184039666AG508785BenignParkinson_disease_180.820930.755390.782350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31185183463184045799AG508787BenignParkinson_disease_180.812240.758210.786940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31192177763184071063GC214425Uncertain_significanceLeukoencephalopathy_with_ataxia0.5938.0.461260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31203443693184090266CT289675BenignThrombocythemia_10.67008.0.640580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31213443763184094183AG290439BenignThrombocythemia_1..0.506790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31225950043184910992AG586066Likely_benignnot_specified.0.00019.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
312324353185511687GT17474risk_factorDiabetes_mellitus_type_2..0.388980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3124160453186332571GA31084BenignLeanness,_susceptibility_to..0.677320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3125160433186337713TC31082BenignLeanness,_susceptibility_to.0.683040.735420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3126160443186338382GC31083BenignLeanness,_susceptibility_to.0.676680.713660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31274030213186461524CT389540Benignnot_specified0.02038.0.024160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31287915763187387022TG708725Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31293443793189349247AT294093BenignEctrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos...0.45839.0.487620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31308020343189507518CCAGAG790371Likely_benignEctrodactyly,_ectodermal_dysplasia,_and_cleft_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31312591323189582241TG251052Benignnot_specified0.131480.125420.058511|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31322591333189582249GA251053Benignnot_specified0.19120.132550.219850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31332591243189587091AG251056Benignnot_specified0.3390.231070.31230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31342591283189604149TG251059Benignnot_specified0.77895.0.698881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31352591273189604160TC251060Benignnot_specified0.778950.723170.699481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31363444313189614636CT293560BenignEctrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos.....0.192890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31373694183189615080AG353647BenignEctrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos.....0.151560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31386772183189712010GA655531Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31391953673190030680AG192528Benignnot_specified0.82131.0.81110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31402600043190106242TC251068BenignPrimary_hypomagnesemia|not_specified0.193680.194930.117211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31413444633190128942GA293610Likely_benignPrimary_hypomagnesemia..0.114621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31423444743190129588TA293624BenignPrimary_hypomagnesemia..0.796131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3143957273193334991GA101624BenignDominant_hereditary_optic_atrophy|not_specifie...0.4970.468270.468050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31446677703193335252GT659798Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31456677733193336425TC659917Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3146957283193336639TC101625Benignnot_specified0.426650.423020.392370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31476832603193337021GA659658Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3148957313193355074TC101628BenignDominant_hereditary_optic_atrophy|not_specifie...0.871370.871760.922921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3149957303193355102TC101627Benignnot_specified0.424110.422460.389781/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31506832643193362189GA659826Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31516677723193363163GA659710Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31526762443193363695GA659829Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3153957173193374964TC101614BenignDominant_hereditary_optic_atrophy|not_specifie...0.497160.466820.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31546677923193377037GA659833Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31556734773193377173TC659660Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31566762453193409726TC659665Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31573444913193412672AG294191BenignOptic_Atrophy,_Dominant..0.641171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31583444943193412949TC289738BenignOptic_Atrophy,_Dominant..0.913741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31593445003193413502CT289758BenignOptic_Atrophy,_Dominant..0.595851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31603445013193413732AG294193BenignOptic_Atrophy,_Dominant..0.696291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31613445063193414481CT290543BenignOptic_Atrophy,_Dominant..0.43890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31623445123193414733AG289778BenignOptic_Atrophy,_Dominant..0.337860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31633445133193414780TC289784BenignOptic_Atrophy,_Dominant..0.43830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31642598773195594805AG251074Benignnot_specified0.128540.189720.118410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31652598733195595054CT251078Benignnot_specified0.10710.112010.083070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31664033813196199204GT389582Benignnot_specified0.517220.540490.402360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31677775893196613101GA698002Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31687727584493148CG698538Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31694763584509850TC453480BenignMental_retardation,_autosomal_recessive_530.027220.022070.020570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31701674364648643GA177920BenignRetinitis_pigmentosa|not_specified0.998920.999740.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31711674384651287CT177922Benignnot_specified0.043364e-050.015970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31721674394651290CCA177923Benign/Likely_benignnot_specified|Congenital_Stationary_Night_Blin...0.043773e-050.015970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31733494004663908AG260350BenignCongenital_Stationary_Night_Blindness,_Dominan...0.579270.614620.547921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31743494014663916CA293981BenignCongenital_Stationary_Night_Blindness,_Dominan...0.037370.026410.028751/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3175926474980932GA98554BenignMucopolysaccharidosis_type_I|not_specified|not....0.48820.394371/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3176926514980971TG98558BenignMucopolysaccharidosis_type_I|not_specified|not....0.913670.891970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31777106254982720GC721126Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31786806174995035TGCACCCCTATCACCCAGGCCT660380Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
317968017641795321CA660232Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318037938941795557TC367926Benignnot_specified..0.996411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318166790441804377GA660305Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318268017741805296GA660600Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318368017841806834GC660237Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318425889442826400TC251436BenignFibrous_dysplasia_of_jaw|not_specified0.797170.753770.787540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318525889842831383TG251440BenignFibrous_dysplasia_of_jaw|not_specified0.45433.0.466250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318634867642840368AAT298317BenignFibrous_dysplasia_of_jaw...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
31871827442906707GT33313drug_responseHypertension,_salt-sensitive_essential,_suscep....0.201870.208470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318867932343465439CT660442Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
318967128043465566GC660277Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319026286443475107GA251446Benignnot_specified|not_provided0.22228.0.138780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319126286343475122GA251448Benignnot_specified0.139690.120140.097040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319219659643475252TC193757Benignnot_specified.0.9999911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319367932543478323TC660283Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319468177143478391CA660384Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319567932643487099AG660465Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319667932743487151AG660656Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319726287843487237AG251459Benignnot_specified|not_provided0.712170.758910.781750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319868177243487450GA660286Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
319966811943487638GA660289Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320067932943491721TC660291Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320167397443491839AATTCATTCCTTTCTTCACCCC660292Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320268177343494318TG660297Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320368177443494419GA660303Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320426288943494449ACA251466Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320580205044861745CG790475BenignHypoplastic_enamel-onycholysis-hypohidrosis_sy......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320634897645564191AT293698BenignEllis-van_Creveld_syndrome..0.540940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320766787345566748TC660455Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320819554045570161CT192701Benign/Likely_benignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.019540.02610.009580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
320966787245576140TC660320Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321067002345616946GC660680Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321126261445617295TC251508Benignnot_specified0.358140.343180.426120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321267001045620649CT660681Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321326261345624223CT251509Benignnot_specified0.10580.054550.088060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321426261045624670TC251512BenignEllis-van_Creveld_syndrome|not_specified0.445950.370590.517570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321567196445633205GA660324Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321667196345633236AG660515Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321766999945633995CT660464Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321867498845642141CT660519Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
321919376345642274TC190926BenignEllis-van_Creveld_syndrome|not_specified0.294940.197830.230031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322067515545642612CG660525Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322166999645642756TC660526Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322266787145664656AT660466Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322366787045665261AC660696Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322466786945665303AC660340Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322566786845666960CT660534Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322666786645667671TC660342Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322766786545682740TA660345Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322866999245686924GA660717Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
322966998645686967CT660719Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323066786445690584CT660494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323166786245691199CT660720Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323266786145691320AC660512Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323366784545693359CT660513Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323466784445695770CG660349Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323566997545699097GA660560Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323626261845710189GA251523BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome....0.16510.218650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323743966845713312GC433536Benignnot_specified..0.18690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323866993245721313CT660568Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
323967508445730954GA660350Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324019828145743509CT195442BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.95490.945620.966651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324119828245743512TC195443BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.706940.795060.744811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324266783445746620TC660725Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324326278245746916CT251530BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome....0.584250.590061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324426278445747078AG251533BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.700220.629460.593051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324566783545747292CT660726Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324626278645749904TC251534BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.405660.417690.471450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324726276145749961GC251536BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.532450.491990.582870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324826276245750003AG251537BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.27380.292470.217450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
324966993445750156AG660520Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325066994845754355CT660571Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325166783745754396GC660361Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325226276445754544TC251539Benignnot_specified0.373650.399990.321490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325366783845755292GA660364Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325466995045755373GC660582Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325516704445755542CA177093BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.85261.0.844651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325666995445755837TA660583Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325726276845785442GA251543BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.30801.0.301520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325866784145785697CG660528Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
325926276945795412CT251544BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.22185.0.333870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326066784245795616CA660371Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326166996045795697CT660590Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326266996545795710GA660548Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326326277345803633CT251547Benignnot_specified0.253420.363880.339860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326426277445803669TC251548BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.721740.727010.69050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326526277545803829ACA251549Benign/Likely_benignEllis-van_Creveld_syndrome|Curry-Hall_syndrome......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326667127545806789AG660615Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326726277845812195AG251551Benignnot_specified0.717970.745360.69070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326826275945812778GA251552BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0.612790.609940.533750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
326934923645813695TC293865BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.43690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327034925845814607CTC299022BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327134926645815032GA299044BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.270170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327234927245815181TC299053BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.723040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327334927645815381GA299061BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.387580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327434928045815477CT299063BenignEllis-van_Creveld_syndrome|Curry-Hall_syndrome..0.385180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327568434046271416GT660618Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327667643746279504GA660622Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327768434146292643GC660387Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327867028746292716GC660744Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
327967028846292755CCAGGGGCATG660748Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328067028946292758GGCA660393Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32814545946292909CT54626Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.616330.651260.715061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3282452746292915AG19566BenignDiabetes_mellitus,_noninsulin-dependent,_assoc...0.62540.655460.728831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328368434246293350TC660576Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328467029046293446TC660766Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328567029846293474AG660578Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
32864546046293696CG54627Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.678060.72120.756391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328767029946293919CG660768Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328867030046293967GA660632Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
328968434446294001AG660771Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329068434646295427CG660772Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329168434746295451AG660584Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329268434846295565CT660634Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329368434946295583CA660395Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3294452846295693CG19567BenignDiabetes_mellitus,_noninsulin-dependent,_assoc.....0.721251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329566959646295750AG660398Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329668435146295985GA660413Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329767319746296447GT660780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329867030146302199CT660418Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
329967030246302220CG660598Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33004546346302519GA54630Benignnot_specified|WFS1-Related_Spectrum_Disorders0.799320.78180.884391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33014543146302707CT54598Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.553050.624520.641571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33024543746303022CT54604Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.632320.65950.729431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33034544246303354GA54609BenignDiabetes_mellitus_AND_insipidus_with_optic_atr...0.40120.53670.469251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33044545546303955GA54622Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.56589.0.653161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33054545646304087AG54623Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.71175.0.779951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330634933246304242TC299132Benignnot_specified|WFS1-Related_Spectrum_Disorders|...0.717820.724750.783751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330734933546304286CT295328BenignWFS1-Related_Spectrum_Disorders|Nonsyndromic_H.....0.848041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330834933746304344GA293945BenignWFS1-Related_Spectrum_Disorders|Nonsyndromic_H.....0.606631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
330934935446304799GC299157BenignWFS1-Related_Spectrum_Disorders|Nonsyndromic_H.....0.62621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331034935946304878CT293961BenignWFS1-Related_Spectrum_Disorders|Nonsyndromic_H.....0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331166951548869587TC655616Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331235020749909923GA296326BenignFamilial_renal_hypouricemia0.37936.0.271171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331335021349922130CT300090BenignFamilial_renal_hypouricemia0.149390.245950.294130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331435023549982330AG300158BenignFamilial_renal_hypouricemia0.7292.0.75241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3315459449994215CT19633associationUric_acid_concentration,_serum,_quantitative_t.....0.857631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331635023749998440CT300168BenignFamilial_renal_hypouricemia0.72713.0.642171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
331735024049998493AG300170BenignFamilial_renal_hypouricemia0.782330.801530.820691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3318347006410022981CT296520BenignFamilial_renal_hypouricemia0.428260.510340.407351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3319402544410502937TG389584Benignnot_specified0.991430.997640.990021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3320402545410586571GA389605Benignnot_specified0.045370.043870.025960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3321668061415480073TC660189Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3322126233415482477AG131765Benignnot_specified0.856470.86020.850241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3323126230415538744TG131762Benignnot_specified0.748690.749410.74820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3324126231415539498AG131763Benignnot_specified0.532680.596780.486020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3325126236415568992TC131768BenignJoubert_syndrome|Meckel-Gruber_syndrome|not_sp...0.701590.712180.662541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3326126239415569146AC131771Benignnot_specified0.70314.0.662341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3327126243415587897AT131775Benignnot_specified0.95780.987510.948881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3328257382415603069GC251363Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|not_sp...0.580950.605320.566891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
332995334415982166AG101233Benignnot_specified|Stargardt_Disease,_Dominant|Cone....0.360790.446891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3330677210415986042GA660365Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3331677208416002050TC660207Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3332259907416020162CT251366Benign/Likely_benignnot_specified|Stargardt_Disease,_Dominant|Cone...0.083810.173570.138180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3333677178416024885AG660370Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3334348137417488064TC297721BenignBH4-Deficient_Hyperphenylalaninemia..0.6260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3335348138417488072TC294253BenignBH4-Deficient_Hyperphenylalaninemia..0.659550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3336348141417488244GA297793BenignBH4-Deficient_Hyperphenylalaninemia..0.658550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3337348142417488286TG292890BenignBH4-Deficient_Hyperphenylalaninemia..0.659150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3338348150417488533CATG292897Uncertain_significanceBH4-Deficient_Hyperphenylalaninemia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3339348163417513724GC297814BenignBH4-Deficient_Hyperphenylalaninemia0.36520.505670.37560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3340348165417513757CGC292915Likely_benignBH4-Deficient_Hyperphenylalaninemia..0.181911|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3341784037420760520AG779201Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3342348522425122859TC293254Likely_benignPontoneocerebellar_hypoplasia..0.115820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3343130288425125703CG135735Benign/Likely_benignPontoneocerebellar_hypoplasia|not_specified0.07690.066790.112220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3344403456425678199AG389591Benignnot_specified0.875980.864260.910741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3345444124426336243CT437747BenignDiabetes_mellitus_type_2..0.478440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3346444136426352363TG437748BenignDiabetes_mellitus_type_2..0.729230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3347444128426385335GA437751BenignDiabetes_mellitus_type_2..0.554310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3348444125426414770GC437755BenignDiabetes_mellitus_type_2..0.465260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3349444126426446006GA437757BenignDiabetes_mellitus_type_2..0.595250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3350444135426451697GA437758BenignDiabetes_mellitus_type_2..0.536140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33518360438798648CA23399protectiveLeprosy,_protection_against.0.538920.800520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
33528361438799710TC23400risk_factorLeprosy_50.427950.392140.574680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3353287684439236493CT271921Conflicting_interpretations_of_pathogenicityJeune_thoracic_dystrophy|Cranioectodermal_dysp...0.001690.00210.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3354261862439259190AG251483Benignnot_specified0.325150.371050.281150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3355811530439276623AAG799356Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3356348762439287322CT298475BenignJeune_thoracic_dystrophy|Cranioectodermal_dysp.....0.488621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3357669810439472556CCCAAA660484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3358670681439472796TA660399Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3359138117439472842TA141820Benignnot_specified0.292020.365450.336860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3360683095439473114CT660307Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3361683097439473167GC660308Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3362683116439473170GA660404Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3363674123439473180TC660406Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3364674124439473186GA660309Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3365674137439473195GA660414Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3366670682439474868GA660431Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
336712298441259633CA27337BenignParkinson_disease_5|Parkinson_Disease,_Dominant.0.350210.253990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3368348787441746460CT298516BenignNeuroblastoma|Congenital_central_hypoventilation..0.424320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3369348788441746477TC294839BenignNeuroblastoma|Congenital_central_hypoventilation..0.052320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
337043888442965159AC53057Benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.82518.0.855030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3371348826443032612GA298554Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.536140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3372775217446388119GA698523Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3373348845447954624CT298617Uncertain_significanceRetinitis_Pigmentosa,_Recessive0.013940.012170.005190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3374517097448012817GA500531Benignnot_specified..0.112220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3375178775454310281TG173814Benignnot_specified0.571370.592120.466651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3376259949455141055AG251495BenignGastrointestinal_stroma_tumor|Idiopathic_hyper...0.958870.988040.957671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3377259952455161254CT251498Benignnot_specified0.735810.802090.699081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3378259953455161391TC251499BenignGastrointestinal_stroma_tumor|Idiopathic_hyper...0.996770.998990.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3379348913455161517AG298643BenignGastrointestinal_stroma_tumor|Idiopathic_hyper.....0.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3380348921455162271TC298654Likely_benignGastrointestinal_stroma_tumor|Idiopathic_hyper.....0.030750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3381348925455162534GTTTG,GT298660Uncertain_significanceGastrointestinal_stroma_tumor|Idiopathic_hyper......1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
3382348930455162950CA294981BenignGastrointestinal_stroma_tumor|Idiopathic_hyper.....0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3383348943455163826TG293573BenignGastrointestinal_stroma_tumor|Idiopathic_hyper.....0.987621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3384518355455948108AG508794BenignHemangioma,_capillary_infantile0.997620.998560.996811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3385134603455972974TA138342not_providednot_specified0.193910.219830.211860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3386134616455979558CT138355not_providednot_specified0.14270.108930.152560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3387349002456212404CG295041Uncertain_significanceCongenital_disorder_of_glycosylation..0.008990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3388676204456235860TC660677Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3389676206456235931CG660451Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3390349009456236328CT293625Likely_benignCongenital_disorder_of_glycosylation..0.267571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3391349019456236804GA293640Likely_benignCongenital_disorder_of_glycosylation..0.267571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3392349022456237137CT298694Likely_benignCongenital_disorder_of_glycosylation..0.267371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3393349024456237327GA298695BenignCongenital_disorder_of_glycosylation..0.68871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3394349033456238263TC298714Likely_benignCongenital_disorder_of_glycosylation..0.269171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3395349043456238626GA295072Likely_benignCongenital_disorder_of_glycosylation..0.267571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3396349047456238847GA293667BenignCongenital_disorder_of_glycosylation..0.751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3397193395456262374AG190559BenignCongenital_disorder_of_glycosylation|not_speci....0.772140.755191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3398349072456292101AT298767Likely_benignCongenital_disorder_of_glycosylation..0.209671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3399128696456874517AC134145Benignnot_specified0.210780.209460.139180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3400349460468620277TC299265BenignIsolated_GnRH_Deficiency..0.981031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3401349468468620957TC299275Likely_benignIsolated_GnRH_Deficiency..0.466251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3402349475468621197AG295504Likely_benignIsolated_GnRH_Deficiency..0.441691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3403349477468621308AG299286Likely_benignIsolated_GnRH_Deficiency..0.466851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3404349478468621332CT295507Likely_benignIsolated_GnRH_Deficiency..0.465861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3405349482468621550GA299291Likely_benignIsolated_GnRH_Deficiency..0.466051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3406349483468621585CAC299297Likely_benignIsolated_GnRH_Deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3407225966469536084AC227750drug_responseoxazepam_response_-_Other|lorazepam_response_-...0.502460.502390.546531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3408349489471494619GA299321BenignAmelogenesis_Imperfecta,_Dominant..0.238420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3409349499471508869TC295533Likely_benignAmelogenesis_Imperfecta,_Dominant0.042830.013850.039340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3410349513471510836CG295535BenignAmelogenesis_Imperfecta,_Dominant..0.226240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3411349520471511259GC299348BenignAmelogenesis_Imperfecta,_Dominant..0.241610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3412349540472313411CT299360Likely_benignRenal_tubular_acidosis,_proximal,_with_ocular_...0.019380.042010.035140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3413349565472433879GC295591BenignRenal_tubular_acidosis,_proximal,_with_ocular_.....0.888181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3414349571472434406GC299410BenignRenal_tubular_acidosis,_proximal,_with_ocular_.....0.287940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3415349598472436235AG299412BenignRenal_tubular_acidosis,_proximal,_with_ocular_.....0.620611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
341615986472618323GT31025BenignGC1/GC2_POLYMORPHISM..0.207870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
341715987472618334AC31026BenignGC1/GC2_POLYMORPHISM.0.51590.381591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3418748886473185600CT749057Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3419430719473942678CT424258associationLip_and_oral_cavity_carcinoma0.121940.170920.176520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3420349639474285239CT299444Likely_benignHyperthyroxinemia,_dysalbuminemic0.51830.535380.483430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3421669877477097336CT660783Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3422670734477134870GA655614Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3423772868477676309AC698634Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3424261821478987157AG251564BenignFraser_syndrome_1|not_specified0.487420.456260.551520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3425518357478989716TC508796BenignFraser_syndrome_1.0.270010.287740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3426261808479186171GA251566BenignFraser_syndrome_1|not_specified0.935560.974090.922131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3427194790479238649TC191953BenignFraser_syndrome_1|not_specified0.79778..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3428261804479240063AG251568BenignFraser_syndrome_1|not_specified0.4114.0.434310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3429261813479387464AG251576BenignFraser_syndrome_1|not_specified0.969510.990120.967651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3430349752479387586AG299519BenignFraser_syndrome_10.208270.311960.31371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3431261814479391256TC251577BenignFraser_syndrome_1|not_specified0.955290.986690.956071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3432261817479420864TC251580BenignFraser_syndrome_1|not_specified0.510380.508630.593850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3433261818479420870CG251582BenignFraser_syndrome_1|not_specified0.48065.0.591650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3434349790479432455AC295831BenignFraser_syndrome_10.296240.32680.404550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3435349802479440589CT299604Likely_benignFraser_syndrome_10.018990.020570.014780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3436349805479442799GTG294360BenignFraser_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3437261798479443850GA251588BenignFraser_syndrome_1|not_specified0.536890.547090.510980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3438261801479455714CG251590BenignFraser_syndrome_1|not_specified0.404990.488420.514980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3439261802479455733CT251591BenignFraser_syndrome_1|not_specified0.405170.488420.514980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3440547870479461956TC538370Uncertain_significanceFraser_syndrome_10.013860.013230.007790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3441349829479462560AT299624BenignFraser_syndrome_1..0.202280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3442349856479464432CT299659BenignFraser_syndrome_1..0.661740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3443349861479464767TC295929BenignFraser_syndrome_1..0.661740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3444349864479464978GA299682BenignFraser_syndrome_1..0.640380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3445349866479465100AATTTT299685BenignFraser_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3446349874480905990CG295946BenignHyaline_fibromatosis_syndrome0.71018.0.802720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3447349882480977078TG294465BenignHyaline_fibromatosis_syndrome0.58745.0.697280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3448349890480993796GT294483BenignHyaline_fibromatosis_syndrome..0.37720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3449349897480994124CT294488Likely_benignHyaline_fibromatosis_syndrome..0.142570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3450128830484188850GA134279Benign/Likely_benignCoenzyme_Q10_deficiency,_primary_1|not_specifi...0.220840.278790.210260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3451683554484190749AG660668Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3452128829484191031AG134278BenignCoenzyme_Q10_deficiency,_primary_1|not_specifi...0.736850.738030.778160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3453226000484192168GC227830drug_responseatorvastatin_response_-_Toxicity/ADR|hmg_coa_r.....0.660140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3454683553484193572AG660443Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3455683548484194328TTATAC660446Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3456128828484205872CA134277BenignCoenzyme_Q10_deficiency,_primary_1|not_specifi...0.685190.724890.649760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3457136978484206004TA140681Benign/Likely_benignCoenzyme_Q10_deficiency,_primary_1|not_specifi...0.0168.0.009980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3458349919486936468AG296014BenignEpileptic_encephalopathy..0.194290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3459349928486937096AC299748BenignEpileptic_encephalopathy..0.452880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3460349933486937588GC296030BenignEpileptic_encephalopathy..0.452680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3461349939486937874CT296037BenignEpileptic_encephalopathy..0.215460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3462349954487024409TC299820BenignEpileptic_encephalopathy0.538750.658060.593450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3463260356488533441TC251593Benignnot_specified0.431430.516170.471451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3464260355488533445TC251594Benignnot_specified0.228780.258550.218651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3465740806488533815TC749100Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3466260359488534235AG251597Benignnot_specified0.647730.628170.674321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3467260353488537737GA251599Benignnot_specified0.884760.794280.855431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3468598009488767008GA589070Benignnot_specified0.134860.181080.172320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
346992795488929305GA98702Benign/Likely_benignPolycystic_kidney_disease,_autosomal_dominant|....0.062520.114420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3470440143488959381GA432996BenignPolycystic_kidney_disease_20.659390.603930.696291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3471219985488989089AC221479Benign/Likely_benignPolycystic_kidney_disease_2|not_specified|not_...0.004380.004810.005790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3472350035488997073GGA299900Likely_benignPolycystic_kidney_disease,_autosomal_dominant...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3473350037488997102CT296123Likely_benignPolycystic_kidney_disease,_autosomal_dominant..0.193091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3474350045488997876GA296126Likely_benignPolycystic_kidney_disease,_autosomal_dominant..0.098640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
347530389489052323GT39346drug_responseallopurinol_response_-_Dosage,_Efficacy|Ovaria...0.08450.118020.119410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
347630386489061114CT39343Affects,_associationUric_acid_concentration,_serum,_quantitative_t...0.045520.107580.157550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3477350093490646886GA299919BenignParkinson_Disease,_Dominant..0.484231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3478350131496075965CT296235BenignBrachydactyly|not_provided..0.404151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3479350133496076020AG299987BenignBrachydactyly..0.592851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3480350135496076113CCT300008Uncertain_significanceBrachydactyly...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3481350147496076813AG300021BenignBrachydactyly..0.579271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3482350152496077383AG300020BenignBrachydactyly..0.593451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3483350167496078174CT300040BenignBrachydactyly..0.383591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3484350171496078600AG300043BenignBrachydactyly..0.384391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3485350174496079045TC300046BenignBrachydactyly..0.384781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3486350175496079079CG296278BenignBrachydactyly..0.120610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3487181804100260789TC33219protectiveAlcohol_dependence.0.344390.214260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3488181794100263965CT33218protectiveAlcohol_dependence.0.342470.214260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34894023444100268190AC389612Benignnot_specified.0.984840.992811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34903470084100485244GC294755BenignAbetalipoproteinaemia.0.215370.19071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34913470094100485255GA300160BenignAbetalipoproteinaemia.0.331910.251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3492142424100504664TC29281BenignAbetalipoproteinaemia|Metabolic_syndrome,_prot....0.250440.24981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34933470524100544284CG294800Uncertain_significanceAbetalipoproteinaemia..0.010380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34943470624100545051CG296412BenignAbetalipoproteinaemia..0.68771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
349512694102751076GA16308Uncertain_significanceSystemic_lupus_erythmatosus,_association_with..0.218450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34963470654103552709CT296563BenignBeta-D-mannosidosis..0.550320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34973470674103552813CT291851BenignBeta-D-mannosidosis..0.550320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34983470684103552830GA293217BenignBeta-D-mannosidosis..0.550320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
34993470744103553053GA296580BenignBeta-D-mannosidosis..0.550320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35003470754103553090AG293223BenignBeta-D-mannosidosis..0.550320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35013470774103553372CT296534Benign/Likely_benignBeta-D-mannosidosis|not_provided0.012920.013130.006390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35024030704103553447GAG389604Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35036674824103553543CT660176Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35046674814103553665GA660177Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35056674804103555619CG660388Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35066674784103555676TC660062Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35076674774103555803GC660390Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35086674764103555821GA660067Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3509953204103555992AG101219BenignBeta-D-mannosidosis|not_specified|not_provided0.548440.532960.549720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35106674754103556316TC660181Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35116674744103556367GGT660183Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35126674734103556462GC660152Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35136674724103556861TC660392Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3514953194103557077GA101218BenignBeta-D-mannosidosis|not_specified|not_provided0.54844.0.549120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3515953184103557192CT101217Benignnot_specified|not_provided0.548750.533680.549120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35166674704103557219CT660160Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35176674694103557251GA660185Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35186674684103557311GC660187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35193471044104510766GA296542Likely_benignIsolated_GnRH_Deficiency..0.550321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35208020814107168431GC790428BenignHypotonia,_infantile,_with_psychomotor_retarda......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35216707124108853592AG660075Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35223777664108868515TC367432Benignnot_specified0.62886.0.650960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35231671624108931039TC177759Benignnot_specified0.849450.915050.869011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35247679694110384047GGCTTTT777405Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35251621644110590479GT171877not_providednot_provided..0.784551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35263694344110661835TC353663BenignAtypical_hemolytic_uremic_syndrome.0.01070.032751|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35273471434110661937GA293307BenignAtypical_hemolytic_uremic_syndrome.0.988170.953671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35283471674110681505CT293323BenignAtypical_hemolytic_uremic_syndrome0.294170.283720.31210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35293471704110685679AT296651Likely_benignAtypical_hemolytic_uremic_syndrome0.014690.004810.011180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35303471954110791361GA296675BenignCongenital_Stationary_Night_Blindness,_Recessive0.17361.0.24860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35313471964110791413CT291932BenignCongenital_Stationary_Night_Blindness,_Recessive0.173540.195110.258990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35323471974110791453TC296667BenignCongenital_Stationary_Night_Blindness,_Recessive0.127630.037990.117410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35333471984110791543CT293357BenignCongenital_Stationary_Night_Blindness,_Recessive0.173610.195040.24880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35343472034110792443GC296699Likely_benignCongenital_Stationary_Night_Blindness,_Recessive..0.034150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35353472064110792629AG291943BenignCongenital_Stationary_Night_Blindness,_Recessive..0.777761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35363472134110793139TA296678Likely_benignCongenital_Stationary_Night_Blindness,_Recessive..0.046331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35372259984110834110AG227748drug_responsecetuximab_response_-_Efficacy|Renal_Hypomagnes.....0.605230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35383472344110883121GA296701BenignRenal_Hypomagnesemia,_Recessive0.123790.098460.165340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35397809334110895923AG709124Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35403472424110901147AG293436BenignRenal_Hypomagnesemia,_Recessive0.031450.047670.106030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35413472454110901198GA293437BenignRenal_Hypomagnesemia,_Recessive0.525140.465840.617810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35423472484110908933TC296755Likely_benignRenal_Hypomagnesemia,_Recessive0.036750.011630.033150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35433472524110914427AT292005BenignRenal_Hypomagnesemia,_Recessive0.848920.840670.920531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35443472734110933094CT293454Likely_benignRenal_Hypomagnesemia,_Recessive..0.030350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35453472784110933523GTTG292021Uncertain_significanceRenal_Hypomagnesemia,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35463472834110933855TC293461BenignRenal_Hypomagnesemia,_Recessive..0.425520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35476721774113825869TC660162Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35486832324114153062AT660082Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35496832354114159052AC660213Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35506718904114171154AG660168Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35516784454114199312CT660097Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35526718914114209350CT660432Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35536710074114267023GA660452Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35543473734119201531GTTG296847BenignIntellectual_Disability,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35551300414119237348TC135487Benignnot_specified|Intellectual_Disability,_Recessive0.523910.554670.545330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35561300424119273712CG135488Benignnot_specified|Intellectual_Disability,_Recessive0.550120.654340.492211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35577711454119736626GC698349Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35586728254120071926TC660267Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35596711394120072233GC660141Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35606711404120072238AG660151Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35616711414120072275GC660483Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3562317874120079159AG40447BenignFamilial_hypertrophic_cardiomyopathy_16|not_sp...0.589340.649430.546330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35636711424120079387GA660157Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35646743454120106982TC660269Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3565457864120107098GGT54951Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35663474224120108603GA296893Likely_benignHypertrophic_cardiomyopathy..0.287340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3567164944120241902TC31533BenignFATTY_ACID-BINDING_PROTEIN,_INTESTINAL,_POLYMO....0.726060.746610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35686837114121676080AC660211Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35696837104121702011GC660504Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35703474374121706201AG293600BenignBrittle_cornea_syndrome_1|not_specified0.199830.211550.137380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35716837094121719113CT660284Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35723474404121719584TTA292165BenignBrittle_cornea_syndrome_1|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35736837084121732251CG660287Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35746837274121737288GA660212Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35753474444121738049TC296920BenignBrittle_cornea_syndrome_1|not_specified0.281250.291170.274961|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35763474454121738070CT296926Benign/Likely_benignBrittle_cornea_syndrome_1|not_specified0.024070.024490.010181|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35773474714122746285TCT296948BenignBardet-Biedl_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35783474764122746596AT296957BenignBardet-Biedl_syndrome..0.276760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35792629224122749436GT251316BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.77539.0.81210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35803474914122791601GC292191BenignBardet-Biedl_syndrome..0.301320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35814029754123536963GA389654Benignnot_specified0.765340.743360.840461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35823474944123653926GA292197Likely_benignBardet-Biedl_syndrome..0.139181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35831667254123664204GA176959BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.413810.414030.506391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35842626694123664247GA251326BenignBardet-Biedl_syndrome|not_specified|not_provided0.106110.037590.092650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35851667264123664427GC177507Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.174920.172760.094651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35861667274123664446GA177222Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.172610.169560.092651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35871667284123664457CT177508Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.208140.186830.121011|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35881667304123664919AG177510Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.171380.169330.091851|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35893475084123665366TTA293633Likely_benignBardet-Biedl_syndrome..0.131990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35903475134123665991CG293643BenignBardet-Biedl_syndrome..0.544131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35915866744123868279GT576773Benignnot_provided..0.743411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35922035224123949556GA199933Benignnot_provided0.89520.916690.878591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35933807934126240510TC367834Benignnot_specified0.765950.701160.721051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35943808184126241253GC367553Benignnot_specified0.112410.092130.06430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35953808824126241335CG367878Benignnot_specified0.038350.085170.108630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35963778554126241871CT367841Benignnot_specified0.754360.697410.711261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35976681374126328562TC660218Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35983802504126329789TC367846Benignnot_specified0.990540.996590.988421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
35993807944126336703TC368957Benignnot_specified0.133020.177610.204670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36006681384126355844TA660219Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36016681394126367986CT660170Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36023807954126369872GC367556Benignnot_specified0.99239.0.990821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36033808134126372742GA367890BenignVan_Maldergem_syndrome_2|not_specified0.220670.267330.230630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36043807974126373789GA367898BenignVan_Maldergem_syndrome_2|not_specified0.992470.997770.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36056801454126384595CT660543Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36066801464126384905AC660295Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36076801474126390181CT660221Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36086681404126397056CT660298Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36093807994126397321CT368992Benignnot_specified0.395970.37450.337860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36106681414126401326TC660306Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36116801544126402921TG660175Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36126801574126408980AT660227Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36136816914126408988GC660312Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36143808024126412575AG367599Benignnot_specified0.74420.756860.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36153475524140375145GC292257BenignSmith-McCort_dysplasia..0.170930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36163475584140375296CG292267BenignSmith-McCort_dysplasia..0.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36173475754140394875GA292269Likely_benignSmith-McCort_dysplasia..0.103830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36183475824140395583CT292290BenignSmith-McCort_dysplasia..0.158950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36193475844140395683CA292299Likely_benignSmith-McCort_dysplasia..0.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36203475934140396931CA293742BenignSmith-McCort_dysplasia..0.227040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36216675014146567584TG660188Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36226675024146574977TC660553Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36233476474146579194TC292365BenignMethylmalonic_acidemia..0.565690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36243476524146579354AT297183BenignMethylmalonic_acidemia..0.565690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36253476554146579452AG297184BenignMethylmalonic_acidemia..0.274160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36263476734149000024CT297192BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.716250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36273476954149001085TC292417BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.553510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36282568284149356516AG251336BenignPseudohypoaldosteronism_type_1_autosomal_domin...0.89812.0.891971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36292568324149357475CT251337BenignPseudohypoaldosteronism_type_1_autosomal_domin...0.897590.881160.891971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36302568274149358014GC251338BenignPseudohypoaldosteronism_type_1_autosomal_domin...0.397430.551050.50080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36314030474151199080GA389609Benignnot_specified0.194990.202770.142170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36324030484151207127CT389652Benignnot_specified0.223210.277260.162140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36334731874151242333CG452979Benignnot_provided0.025450.00770.023161|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36344398694151242409TG433673Conflicting_interpretations_of_pathogenicityCommon_variable_immunodeficiency_8,_with_autoi...0.006770.004630.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36354030504151719263AG389662Benignnot_specified0.175080.184150.120811|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36364731784151753133GAG453283BenignCommon_variable_immunodeficiency_8,_with_autoi......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36371961334151765243GA193294Benignnot_specified0.835770.856910.7530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36383477824155492224AC293907BenignAfibrinogenemia,_congenital..0.213661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36393477874155492421TC292488BenignAfibrinogenemia,_congenital..0.923521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36403477994155493352CT292505BenignAfibrinogenemia,_congenital..0.213261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36413478244155511897TC297315BenignFamilial_visceral_amyloidosis,_Ostertag_type|A...0.64805.0.642971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36423479114157997377TC297419BenignHyperekplexia..0.473640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36433479174158043559CT297477BenignHyperekplexia0.43674.0.491210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36443479244158073913TC297500BenignHyperekplexia0.04890.047290.06210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36453479324158092040GA292659BenignHyperekplexia..0.068490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36463479404158092422TA297437BenignHyperekplexia..0.471450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36473479434158092733TC292668BenignHyperekplexia..0.086260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36483479484158093061CT297452BenignHyperekplexia..0.086060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3649950754159601676CT100975BenignGlutaric_aciduria,_type_2|not_specified|not_pr...0.656570.811920.672721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36506761224159603110AG660362Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36516839844159611841AAAAG660570Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36526801234159617019CT660363Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36533754834164007820AG362288associationChronic_osteomyelitis..0.806911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36547692964165800154TC698419Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36553480204169418267AT292720BenignCarcinoma_of_pancreas..0.406750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36561280994169632959CT133556Likely_benignCarcinoma_of_pancreas|not_specified|not_provided0.001230.00154.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36571827934169799448AG180160Benignnot_specified|not_provided.0.646430.478631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36581827954169846359GCTG180162BenignHereditary_cancer-predisposing_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36593480484169847646TAT294114BenignCarcinoma_of_pancreas...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36603480694169849389CG297578BenignCarcinoma_of_pancreas..0.568091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36613480724169849477TAT292770BenignCarcinoma_of_pancreas...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36623480834170315166AG294152BenignShort_Rib_Polydactyly_Syndrome..0.363420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36633480854170315496CT292774BenignShort_Rib_Polydactyly_Syndrome..0.905751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36646679324170315872GA660372Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36656679314170328209AG660214Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36666679304170346090CT660577Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36676679294170346254AG660579Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36686679284170354476GC660252Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3669955084170354836CT101407BenignShort_rib-polydactyly_syndrome,_Majewski_type|...0.79230.872220.795331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36706679274170359021GA660376Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36716712204170398843TC660581Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36726679244170476699TTCA660272Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36736679064170506990CT660288Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36746712004170522973CT660225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36753694404175444055TC353669BenignDigital_clubbing,_isolated_congenital|Hypertro.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36763482244178352679TG294280BenignAspartylglucosaminuria.0.610640.456870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36776832544178353046GC660592Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36786832534178354667CA660229Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36796832524178354680AT660407Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36805589624178355668CG549568Benignnot_provided0.986780.996690.989021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36816832434178355880CT660409Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3682923084178359960GC98219BenignAspartylglucosaminuria|not_specified|not_provided0.925270.978220.920931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36836832414178360196TC660300Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36846832404178360476CA660301Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36855589654178363378GA549571Benignnot_provided0.606570.655260.610421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36866771874183601594GA660317Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36872573474183601847TC251400Benignnot_specified|not_provided0.374850.449280.520171|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36886676574183602098CG660601Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36896740124183651063GC660319Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36902573494183652175TC251402Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36916771884183664593GA660257Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36922573534183674697CT251406Benignnot_specified|not_provided0.171550.198820.164741|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36936740134183674945GT660415Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36946740144183675227TC660417Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36956676594183715310GC660326Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36966676604183718095CG660259Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36973482564186068637AG292939BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.93651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36983482594186068998GA294314BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.036540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
36993482624186069178TC294317BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.43990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37003482714186070432TC297875BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.468650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37013482824186071068GA297804BenignProgressive_External_Ophthalmoplegia_with_Mito.....0.430510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37021386754186423637GA142378Benignnot_specified|Cardiovascular_phenotype0.696680.783010.659551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37031386744186423655GA142377Benignnot_specified0.119870.156310.139181/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37046711794186423677GA660327Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37056711784186427841TC660337Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37066836824186429991TG660356Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37076836814186444235TC660358Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37086729154186444698AC660274Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3709414724187004074CT49908Benign/Likely_benignHuman_immunodeficiency_virus_type_1,_susceptib...0.21598.0.231830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37104704834187005865CT453122BenignHerpes_simplex_encephalitis_10.06343.0.054510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37113482884187112682AC294375BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.862221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37123482914187112826AG297824BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.43551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37132632974187120211CA251427BenignBietti_crystalline_corneoretinal_dystrophy|not...0.628250.585250.559311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37141669754187122304CT177662BenignBietti_crystalline_corneoretinal_dystrophy|not...0.367520.337710.292331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37151669764187122319TG177663BenignBietti_crystalline_corneoretinal_dystrophy|not...0.63994.0.577481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37162632984187122332GA251428Benign/Likely_benignBietti_crystalline_corneoretinal_dystrophy|not...0.038520.02720.033551/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37173483194187132159TG297909BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.827281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37183483244187132520CT294421BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.904351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37193483254187132536CT297916BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.827281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37203483514187133031AT293022BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.457671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37213483574187133576AC294435BenignBietti_crystalline_corneoretinal_dystrophy|Cor.....0.904151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3722120374187158034GA27076Conflicting_interpretations_of_pathogenicityPrekallikrein_deficiency.0.536470.604631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37237609714187207381CT774896Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37243483824187210033AG293066Likely_benignHereditary_factor_XI_deficiency_disease..0.12840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37253483834187210064GC293075BenignHereditary_factor_XI_deficiency_disease..0.386180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37263483854187210247AT298032BenignHereditary_factor_XI_deficiency_disease..0.389580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37273483964187210741CATTC298036Uncertain_significanceHereditary_factor_XI_deficiency_disease...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37287818494187539205CT709288Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37292592485230980AG251940Benign/Likely_benignPheochromocytoma|Leigh_syndrome|Hereditary_can...0.91258.0.858430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37301302835231111TC135730Benign/Likely_benignPheochromocytoma|Leigh_syndrome|Hereditary_can...0.768690.707830.653360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37315481175610093CT538600drug_responsevincristine_response_-_Toxicity/ADR..0.282150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373278294451038075CT709550Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373313035451216775AG135801Likely_benignnot_specified0.92726.0.840061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37343911951255520GA47725BenignAplastic_anemia|Idiopathic_fibrosing_alveoliti...0.073810.123880.117810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373553924751266310AG520672Benignnot_provided..0.434310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373622578351279790CT227598BenignChronic_osteomyelitis|not_provided..0.347640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373753926651280028GA520888Benignnot_provided..0.165740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
373853922751285974CA520975Benignnot_provided..0.321491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
37393912651294086CT47732BenignAplastic_anemia|Idiopathic_fibrosing_alveoliti...0.207530.404470.265581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374053924051295349AG520856Benignnot_provided..0.297921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374151835951409127TC508799BenignParkinsonism-dystonia,_infantile,_10.996690.963880.93671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374252234751432825GT512901BenignParkinsonism-dystonia,_infantile,_10.286870.319030.420331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374368311051801936AG661326Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374468311151802229CT660881Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374568311251814146GA661328Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374668311551814783TC660883BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374735404056599492TGT300127Likely_benignIntellectual_Disability,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374812984156600064GT135287Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe...0.06589.0.055110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
374935405456605532CA300147BenignIntellectual_Disability,_Recessive.0.660940.675321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375012984556632875GA135291Benignnot_specified|Intellectual_Disability,_Recessive0.34830.332530.276760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375112984256633042CT135288BenignHistory_of_neurodevelopmental_disorder|not_spe....0.294170.276560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375235406756633222CT304385BenignIntellectual_Disability,_Recessive..0.262380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3753702957870973AG22068drug_responseDown_syndrome,_susceptibility_to|Neural_tube_d....0.473030.364221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375413830457878179CT142007BenignGastrointestinal_stroma_tumor|Disorders_of_Int...0.328230.315470.269970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375550629357885794TTTC501264Benignnot_specified..0.090061|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375613829557891546GA141998Benignnot_specified0.01991.0.007990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375713829657892933AG141999BenignHomocystinuria-Megaloblastic_anemia_due_to_def...0.019450.01520.007990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375813829757893005CT142000BenignHomocystinuria-Megaloblastic_anemia_due_to_def...0.020990.016060.008990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
375913829957897061TC142002Conflicting_interpretations_of_pathogenicityHomocystinuria-Megaloblastic_anemia_due_to_def...0.019450.015260.007990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376013830257897319GA142005BenignDisorders_of_Intracellular_Cobalamin_Metabolis...0.323620.31420.266370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376135436957900598TC300511Likely_benignDisorders_of_Intracellular_Cobalamin_Metabolism..0.083071|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376235437357900833TA305043BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.485620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
376335437657900996TCT300516BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.486220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3764350245510250430GA294803BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.71298.0.68531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3765350246510250443TC296446BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.718050.789160.68531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3766350248510254817AG300196BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.718670.789470.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3767350249510256161TC300209BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.72736.0.692491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3768350257510262740CA294811BenignNeuropathy,_hereditary_sensory,_with_spastic_p...0.718670.789440.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3769350262510264962AG296482BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.68571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3770350264510265076CT296487BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3771350271510265278AG300281BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3772350276510265488AG300284BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.68611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3773350278510265719CG296511BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.663141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3774350284510265886CCTCTAT296526BenignSensory_Neuropathy_with_Spastic_Paraplegia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3775350288510266067GT300246BenignSensory_Neuropathy_with_Spastic_Paraplegia..0.887981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3776350910513691045TC295377BenignPrimary_ciliary_dyskinesia..0.443690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3777258001513692279AT251675Benignnot_specified0.552590.525780.508790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3778178740513701525TC173682BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.486010.501270.447681|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3779163132513701536TC173545BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.534290.518970.503591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3780257989513721378AG251687Benignnot_specified0.101650.105710.056710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3781257985513729714AG251688Benignnot_specified0.593430.602350.597641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3782257980513735892TC251692Benignnot_specified0.55936.0.555911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3783178744513737444GA173548Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.09434.0.065690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3784407241513841160AAT394769PathogenicPrimary_ciliary_dyskinesia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3785258039513850731CA251744Benignnot_specified0.060970.052650.053311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3786258038513850739TA251745Benignnot_specified0.33446.0.357030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3787163154513882841AG173563Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.269880.253470.25060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3788258017513882958CT251764Benignnot_specified0.254270.307690.31571|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3789178755513900345AG173566BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.522140.501530.601240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3790163157513902220TC173704BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.3320.418620.388380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3791163158513913885AG173705BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.429650.422020.528750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3792257987513914775GT251779Benignnot_specified0.427790.421650.528750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3793257988513914796TC251780Benignnot_specified0.427150.420960.528550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3794258072513919255TG251783Benignnot_specified0.220050.258560.195890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3795178760513944512AC173571BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.925570.93580.912941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3796351403514705665TC301744BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.705271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3797351418514707087AG297626Likely_benignChondrocalcinosis|Craniometaphyseal_dysplasia..0.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3798351424514707378GA295804BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.920731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3799351425514707405GAG301758BenignChondrocalcinosis|Craniometaphyseal_dysplasia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3800351428514707600CT297645BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.920731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3801351457514709199TC301573BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.963461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3802351459514709412AAT301574BenignChondrocalcinosis|Craniometaphyseal_dysplasia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3803351468514710035TG301588BenignChondrocalcinosis|Craniometaphyseal_dysplasia..0.964061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3804352675516473838CT298709BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.407950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3805352681516474644TG302950BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.322280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3806352683516474778CCT303128BenignHereditary_sensory_and_autonomic_neuropathy_ty......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3807518360516477751CA508800BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.730820.662470.677120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3808673439516478120AG660816Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3809352689516478200GA296804BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.730630.666120.677520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3810673438516479151AG661117Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3811670508516479220AG661234Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3812668135516566212CT661064Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3813286856516617099AG271093Benignnot_specified.0.858810.839460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3814617842519591174AG609201Uncertain_significanceSpeech-language_disorder_10.138630.16780.095850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3815197829533951693CG194990Benignnot_specified.0.64030.274961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3816197309533954511TC194470Benignnot_specified0.959250.896770.833071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3817353244533988535CT303828Benign/Likely_benignOculocutaneous_albinism|Alpha-methylacyl-CoA_r.....0.193690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3818128360533989518CT133809BenignOculocutaneous_albinism|Alpha-methylacyl-CoA_r...0.759110.70160.696091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3819128359533998768CA133808Benign/Likely_benignAlpha-methylacyl-CoA_racemase_deficiency|not_s...0.119950.126830.114420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3820128358533998883AG133807BenignAlpha-methylacyl-CoA_racemase_deficiency|not_s...0.74865.0.714861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3821128357534004707CT133806BenignAlpha-methylacyl-CoA_racemase_deficiency|not_s...0.384210.410770.25260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3822128356534008100CT133805BenignAlpha-methylacyl-CoA_racemase_deficiency|not_s...0.417590.42270.286941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3823403471535641582AC389694Benignnot_specified0.595720.606060.679111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3824403472535644621TC389682Benignnot_specified0.684630.722040.784151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3825403473535654711CT389695Benignnot_specified0.591960.601230.677121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3826403475535692775TA389697Benignnot_specified0.260750.222320.357030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3827403477535700598TC389646Benignnot_specified0.561150.509550.44050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3828403478535709095CT389685Benignnot_specified0.756560.75556.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3829403479535709184GC389686Benignnot_specified0.756090.75565.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3830403481535753715TC389667Benignnot_specified0.542010.593350.503590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3831379998536217997TA368624Benignnot_specified0.330620.376410.327280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3832379997536241922GA368629Benignnot_specified.0.498590.258390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3833676272536242007GA660886Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3834379996536242212TC368467Benignnot_specified..0.309311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3835353326536686404GA297395BenignEpisodic_ataxia0.235050.29768.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3836353336536686886AC299438BenignEpisodic_ataxia..0.350440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3837353354536687856CT297413BenignEpisodic_ataxia..0.204870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
383896333536985303AG102227BenignHistory_of_neurodevelopmental_disorder|Corneli...0.113790.13220.12520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
383996340537001074AG102234Benign/Likely_benignnot_specified0.113180.132030.12680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3840673933537007629TC661216Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3841673934537019354GA661223Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3842667677537027258CA661340Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
384396348537036492CT102242BenignHistory_of_neurodevelopmental_disorder|not_spe...0.102980.228430.171530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3844673993537038517AATATG661155Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3845673935537045841AG660889Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3846667678537061261AG661158Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3847680164537139291TG661225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3848197507537139474TAT194668Benign/Likely_benignJoubert_syndrome|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3849680162537142778GA661233Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3850671676537154427AG660892Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3851680161537162855TC661342Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3852680160537169994GA661168Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3853158048537173930AC167895BenignJoubert_syndrome|Joubert_syndrome_17|not_speci...0.175770.135070.172720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3854680158537175888TTTTA661235Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3855158046537176091AG167893Benign/Likely_benignJoubert_syndrome|Joubert_syndrome_17|not_speci...0.14870.123940.142370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3856158053537247700GA167900BenignJoubert_syndrome_17|not_specified.0.999910.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3857778866537371059GA699089Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3858353491537814102TC304160Likely_benignHirschsprung_Disease,_Dominant..0.24760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3859353494537814148AG304161BenignHirschsprung_Disease,_Dominant..0.539940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3860353520537839633TC304198BenignHirschsprung_Disease,_Dominant..0.405351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3861353538538476528AT303799BenignStuve-Wiedemann_syndrome..0.142170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3862353589538480499GA299756Uncertain_significanceStuve-Wiedemann_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3863353602538481335CT297587BenignStuve-Wiedemann_syndrome..0.729030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3864353617538486065CT297598BenignStuve-Wiedemann_syndrome0.186910.19090.138380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3865402465539342308CT389704Benignnot_specified0.606340.536420.62780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3866402466539364554GA389708Benignnot_specified0.360140.364270.286141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3867402458541199959GT389633Benignnot_specified0.608410.593610.553910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3868353674541870675TC297643BenignSuccinyl-CoA_acetoacetate_transferase_deficiency..0.196490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3869353677542565967TC303980Uncertain_significanceLaron-type_isolated_somatotropin_defect0.000540.000480.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3870198051542700044AG195212BenignLaron-type_isolated_somatotropin_defect|not_sp...0.633860.712160.641570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3871255404542719082CT251971Benign/Likely_benignLaron-type_isolated_somatotropin_defect|not_sp...0.021910.022570.020570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
38728658542719239AC23697BenignLaron-type_isolated_somatotropin_defect|Famili....0.443390.444490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3873353693542719826GA303994BenignLaron-type_isolated_somatotropin_defect..0.455670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3874353695542720068TTA304005BenignLaron-type_isolated_somatotropin_defect..0.819491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3875353706542721023TTTGT304017BenignLaron-type_isolated_somatotropin_defect...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3876353708542721080GA297656BenignLaron-type_isolated_somatotropin_defect..0.787941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3877353723544305309CG297679BenignCongenital_absence_of_salivary_gland|Levy-Holl...0.162390.216110.183910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3878353737552344610AG299877BenignPlatelet-type_bleeding_disorder_90.753110.721260.702280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3879353796552387150AC297736BenignCombined_molybdoflavoprotein_enzyme_deficiency.....0.793331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3880353800552387323CT297741BenignCombined_molybdoflavoprotein_enzyme_deficiency.....0.680110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3881353828552388999CT297766Benign/Likely_benignCombined_molybdoflavoprotein_enzyme_deficiency.....0.183710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3882353836552389311GGGTATGTTTAGC304488Uncertain_significancePlatelet-type_bleeding_disorder_9...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3883353841552389455AG297779BenignCombined_molybdoflavoprotein_enzyme_deficiency.....0.69010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3884353851552389811TTAAAG299970BenignCombined_molybdoflavoprotein_enzyme_deficiency......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3885129699552856504GC135145BenignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.661540.627650.680910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3886683100552941835GA661178Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3887683102552941905AG660908Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3888129700552942083AC135146BenignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.96878.0.943491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3889129701552942197AG135147BenignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.792480.773450.800120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3890683104552942408TAAT661246Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3891683106552942463CT661254Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3892683108552978722CT661351Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3893353892552979097GA304535Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficiency0.41950.448490.378590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3894403074554516521GA389688Benignnot_specified.0.614050.488420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3895261408554528393GC251972Benignnot_specified0.15961.0.177720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3896518361556111751GC508801Benign46,XY_sex_reversal,_type_6.0.795540.68570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3897518362556152416CA508802Benign46,XY_sex_reversal,_type_60.698930.613210.526160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3898518363556161787GA508803Benign46,XY_sex_reversal,_type_60.853010.84790.804310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3899518364556177443GA508804Benign46,XY_sex_reversal,_type_60.650120.598350.476440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3900518365556177743GA508805Benign46,XY_sex_reversal,_type_60.798470.76480.708270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3901435819556177848TCAAT428439Benign46,XY_sex_reversal,_type_6|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3902518366556178217AC508806Benign46,XY_sex_reversal,_type_60.79947.0.708270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3903353926558266490GC304270BenignAcrodysostosis..0.646561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3904353936558267557CT304283BenignAcrodysostosis..0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3905353937558267723AC304604BenignAcrodysostosis..0.647361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3906353941558267976TA304619BenignAcrodysostosis..0.589061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3907353992558286625CT304670BenignAcrodysostosis|not_specified0.816540.838380.809311|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3908354027560240986AG297944BenignCockayne_syndrome|Leigh_syndrome|Mitochondrial.....0.724241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3909129691560241142GA135137BenignCockayne_syndrome|Leigh_syndrome|Mitochondrial....0.638750.692891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3910671559560369083AG661202Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3911680678560448276AG661357Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3912380829561642937TC368220Benignnot_specified0.252540.300720.209861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3913682855561643816GA661206Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3914682860561648738TG661381Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3915682864561649347TA661383Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3916682867561650843GA661267Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3917682868561651248TC660921Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3918682871561653757CT661386Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3919682874561654187GC661214Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3920682872561657228TC661219Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3921682876561657574TC660928Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3922682877561657586TC661271Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3923668920561658648TA661281Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3924682879561659339CT661227Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3925682882561662457GA661392Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3926682886561673670AG661398Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3927682887561676902GT661291Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3928375667563258565CG362497drug_responsenot_specified|paroxetine_response_-_Efficacy..0.546731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3929769300568396764TTG777613Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
393043843568720419TG53012Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.34236.0.281750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3931508084570751818TG501602Benignnot_specified0.767140.824750.778161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3932509130570798553AT500910Likely_benignnot_specified|not_provided0.004780.005620.003790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3933517819570800475CT501380Benignnot_specified0.283220.353860.323680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3934508085570800538GA501609Benignnot_specified0.447760.46180.432710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3935506538570806457GA500913Benignnot_specified0.450040.46310.43970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3936508086570806649TA500915Benignnot_specified0.45353.0.43990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3937508087570806711CG501387Benignnot_specified0.771860.825430.790741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3938508088570806958GA501621Benignnot_specified0.802910.834350.821091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3939682760570807991GA661412Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3940508127570809169AG501630Benignnot_specified0.429690.426520.399560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3941508592570818150CG501633Benignnot_specified|not_provided0.031820.021490.020170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3942506716570837295AC501636Benignnot_specified0.803780.835340.822681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3943508089570840233CT501236Benignnot_specified0.428190.426550.398960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3944508090570849021GT501390Benignnot_specified0.449970.461960.432710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3945517820570858194CT501246Benignnot_specified0.284820.353720.323680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3946684211570882917AT661306Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3947684213570882950CG661319Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3948261560570922616GA251976Benignnot_specified0.796830.834810.81351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3949684218570927686CT660936Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3950684219570930509TC661415Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
395196032570930966AG101926Benign3-MCC_Deficiency|not_specified0.288870.367330.330070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3952684220570936643CG661417Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3953684221570939437GA661321Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
395496029570945075AG101923Benign3-MCC_Deficiency|not_specified0.813240.878080.851441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3955684228570948263CT661256Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3956354106570952934CT304413Benign3-MCC_Deficiency..0.81111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3957354124570953885CT300210Benign3-MCC_Deficiency..0.320690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3958257378573076511CA251987Benignnot_specified0.569550.547970.577880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3959257359573144845AG251992Benignnot_specified0.670330.651440.676320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3960257363573163861CT251996Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3961257371573205463GA252002Benignnot_specified0.02560.050920.035140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3962257372573205697CG252003Benignnot_specified0.025430.057260.036540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3963257373573205717CT252004Benignnot_specified0.026820.048690.034740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3964257374573207372TA252005Benignnot_specified0.384880.380880.302321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3965680596573980799GC661332Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3966369506573980960CT353735BenignSandhoff_disease|not_provided..0.510380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3967369507573980963GCG353736BenignSandhoff_disease..0.510380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3968167173573981270TC177767BenignSandhoff_disease|not_specified.0.970820.981431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3969680598573981662GA661334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3970681700573985534TC660941Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3971256360573992609GA252011Benignnot_specified0.900460.891840.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
397293202573992881AG99109Benign/Likely_benignHEXB_POLYMORPHISM|Sandhoff_disease|not_specifi...0.127480.151480.12840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3973137480574017499CT141183Benignnot_specified0.15816.0.12361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3974214504574021846TACTCAAT211177Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3975671623574033944CT661336Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3976137475574034245GA141178Benignnot_specified0.172310.123950.139181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3977137472574037386TA141175Benignnot_specified0.142650.131810.108431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3978676215574054595AG660946Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3979137481574055209TC141184Benignnot_specified0.188220.128460.155751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
398014903574648603AT29942associationLow_density_lipoprotein_cholesterol_level_quan.....0.43570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3981354164576708987AG304827BenignStriatal_Degeneration0.695140.703120.765181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3982354179576722443GA304539BenignStriatal_Degeneration..0.661140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3983354185576722816AG304845BenignStriatal_Degeneration..0.050720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3984354192576722891TC304550BenignStriatal_Degeneration..0.445490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3985162753577425028AT174289BenignHermansky-Pudlak_syndrome|not_specified0.93280.86283.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3986369509578073025TC353738Likely_benignMucopolysaccharidosis_type_VI..0.057911|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3987354256578073039AC298115Likely_benignMucopolysaccharidosis_type_VI..0.075680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3988354262578073245CA304685BenignMucopolysaccharidosis_type_VI..0.737421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3989354287578074918CA298153BenignMucopolysaccharidosis_type_VI..0.50260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3990354290578074963TG300434Likely_benignMucopolysaccharidosis_type_VI..0.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3991680476578181174GA661273Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
399292350578181477CT98261BenignMucopolysaccharidosis_type_VI|not_specified|no...0.32470.390730.285540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
399392357578181577TC98268Benign/Likely_benignMucopolysaccharidosis_type_VI|not_specified|no...0.052360.052690.026560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3994680475578181850TC661437Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3995254739578265041AG252018Benignnot_specified|not_provided0.299030.32030.243010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3996354323578281373TC300479BenignMucopolysaccharidosis_type_VI..0.905151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3997354331578281909CCTG300491BenignMucopolysaccharidosis_type_VI..0.951881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3998354338578282249TC298198BenignMucopolysaccharidosis_type_VI..0.816291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
3999380066578324352AG368577Benignnot_specified0.343610.279840.304110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4000380065578324482TC368583Benignnot_specified0.343230.279830.304110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4001380064578326750GC369960Benignnot_specified0.347220.280770.305910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4002380063578328560GA368740Benignnot_specified0.201910.188760.198680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4003380019578351636AC369997Benignnot_specified0.630310.644820.650560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4004785801579025290GA710026Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4005157590579950163CCTGGCGCGTCCCGCCCAGGT167452Uncertain_significanceGastrointestinal_stroma_tumor...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4006402590579950741GCCCCCAGCTG389689Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4007354395582815158AG300534BenignVitreoretinopathy|Wagner_syndrome0.030770.031710.019970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4008354396582815170AG300536BenignVitreoretinopathy|Wagner_syndrome0.030620.03150.019970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4009259361582815408GA252024BenignVitreoretinopathy|Wagner_syndrome|not_specified0.170150.152650.212860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4010198803582833145GA195963BenignVitreoretinopathy|Wagner_syndrome|not_specified0.672070.64776.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4011167820582833369AG176969BenignVitreoretinopathy|Wagner_syndrome|not_specified0.498620.4840.471050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4012167823582834299GA177101BenignVitreoretinopathy|Wagner_syndrome|not_specified0.383670.381050.358430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4013167824582834630TC178145BenignVitreoretinopathy|Wagner_syndrome|not_specified0.497920.483790.468650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4014198797582835545AG195957BenignVitreoretinopathy|Wagner_syndrome|not_specified0.4970.483490.470450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4015198798582835724TA195958BenignVitreoretinopathy|Wagner_syndrome|not_specified0.49546.0.468450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4016198802582837631GT195962BenignVitreoretinopathy|Wagner_syndrome|not_specified0.38890.381190.360620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4017259379582875800CT252038BenignVitreoretinopathy|Wagner_syndrome|not_specified0.974780.97550.992011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4018354492582877682AG305120BenignVitreoretinopathy|Wagner_syndrome..0.568891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4019354493582877689CT304902BenignVitreoretinopathy|Wagner_syndrome..0.169931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4020354494582877794CTC300623BenignVitreoretinopathy|Wagner_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4021811536586637164GGA799424Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4022354570588016008AG305013BenignIntellectual_Disability,_Stereotypic_Movements.....0.701280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4023354574588016153AAT305209BenignIntellectual_Disability,_Stereotypic_Movements......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4024670880588045029CA661299Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4025684337588120079CCCT660958Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4026354599588179070AAG305082Uncertain_significanceIntellectual_Disability,_Stereotypic_Movements......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4027670329589918704TC660968Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4028674374589918725TG661390Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4029670346589918813GC661314Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4030670347589924976CA660973Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
403146305589938587CT55470Benignnot_specified0.748640.73220.821291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4032678787589939067GA661461Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4033678814589940036GC660987Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
403446313589943571GT55478Benignnot_specified0.72749.0.81031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4035678816589943699GA661465Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4036678817589947247CT661007Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4037678818589954184TC661408Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4038678794589968626AT661470Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4039678796589968773GA661009Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4040678797589975629TA661010Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4041158652589979380TC168549Benignnot_specified|not_provided0.297220.486850.322680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404246343589979589GA55508Benignnot_specified0.727520.707770.803711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404346345589979698CT55510Benignnot_specified0.305360.354170.337260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404446356589985882AG55521Benignnot_specified0.31810.387420.349840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404546358589988412GA55523Benignnot_specified0.291780.385470.322090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404646360589988504AG55525Benignnot_specified0.291390.37290.322280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404746365589989779GA55530Benignnot_specified|not_provided0.29030.357450.322090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
404846379589990324AG55544Benignnot_specified0.731260.709010.808511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4049158654589990545CA168551Benignnot_specified|not_provided0.54739.0.647170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4050674377589993045TC661414Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4051678800589999968AG661324Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4052674378590001988GT661335Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4053678801590006552TG661416Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4054674379590007196CT661012Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4055678802590007288TA661343Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
405646403590012379GA55568Benignnot_specified0.065030.068610.046530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4057674380590012614AT661471Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4058678803590012703GA661473Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4059674381590015792CT661474Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4060674382590016129AG661015Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4061158656590020868AC168553Benignnot_specified|not_provided0.717210.710520.798121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
406246409590020923TG55574Benignnot_specified0.29627..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4063158642590021499GT168554Likely_benignnot_specified.0.56979.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4064678805590021691CT661476Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4065678806590024277TC661420Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
406646248590024735GA55413Benignnot_specified|not_provided0.752960.748380.829071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4067674384590041161GA661422Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
406846252590041510AG55417Benignnot_specified|not_provided0.034830.030080.017370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4069674385590049238AG661359Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407046256590052263TTC55421Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407146257590052289GA55422Benignnot_specified0.25290.346470.296131/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407246258590052372CT55423Benignnot_specified|not_provided0.520350.483020.539341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4073674386590053056AG661490Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4074678807590059001TA661424Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4075667602590073390AG661371Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407646268590079820AG55433Benignnot_specified0.165150.172390.092250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4077678810590103785TG661382Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
407846282590107108AG55447Benignnot_specified0.936120.968570.946091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4079678812590111700TC661441Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408046285590119324GA55450Benignnot_specified0.97210.992010.972241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4081678813590150228AG661028Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408246291590151589GA55456BenignUsher_syndrome,_type_2C|not_specified0.434750.539310.459070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4083678815590368596CT661029Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408446299590449031TC55464Benignnot_specified0.916680.92640.898361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
408546300590449154GA55465Benignnot_specified0.117560.127510.138181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4086354634595728440AG300730Likely_benignProprotein_convertase_1/3_deficiency|Monogenic.....0.166731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4087771152598205532TC699223Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40886839785110075414CA660814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40896711005110092160AG660456Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40906711045110092531AG660824Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40916686325110096939GA655620Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40922624665110439509AG251609BenignPrimary_open_angle_glaucoma|not_specified0.238540.318470.257390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40932624655110456704AT251610BenignPrimary_open_angle_glaucoma|not_specified|not_...0.23930.320830.259190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40943503625110463631TG300351BenignPrimary_open_angle_glaucoma..0.036941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
40953503705110464008TC300356BenignPrimary_open_angle_glaucoma..0.154551|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4096827115112064475AT93602otherFamilial_colorectal_cancer..0.37280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4097827125112064826GC93603otherFamilial_colorectal_cancer..0.987421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4098827155112066524GC93606otherFamilial_colorectal_cancer..0.984821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4099827175112067142CT93608otherFamilial_colorectal_cancer..0.212660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4100827425112074269AG93633otherFamilial_colorectal_cancer..0.43590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4101827445112074356CT93635otherFamilial_colorectal_cancer..0.601440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4102827485112074722CG93639otherFamilial_colorectal_cancer..0.43650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4103827565112077447TA93647otherFamilial_colorectal_cancer..0.430910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4104827605112077770AG93651otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4105827615112077920GC93652otherFamilial_colorectal_cancer...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4106827665112079882TG93657otherFamilial_colorectal_cancer..0.43650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4107827705112080728GA93661otherFamilial_colorectal_cancer..0.213460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4108827795112081924AG93670otherFamilial_colorectal_cancer..0.43650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4109827955112085611TG93686otherFamilial_colorectal_cancer..0.43690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4110827995112086165TA93690otherFamilial_colorectal_cancer..0.43550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4111828015112087327TG93692otherFamilial_colorectal_cancer..0.619410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4112828075112088507GA93698otherFamilial_colorectal_cancer..0.982231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4113828095112089282TC93700otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4114828115112089480TC93702otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4115828235112091704CG93714otherFamilial_colorectal_cancer..0.604830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4116828245112092402TG93715otherFamilial_colorectal_cancer..0.43790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4117886255112093955AG94223otherFamilial_colorectal_cancer..0.982831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4118828295112094404GA93720otherFamilial_colorectal_cancer..0.603240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4119828325112095332GA93723otherFamilial_colorectal_cancer..0.18950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4120828365112095775TA93727otherFamilial_colorectal_cancer..0.433710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4121828405112097234GA93731otherFamilial_colorectal_cancer..0.431110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4122828435112097757AG93734otherFamilial_colorectal_cancer..0.454070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4123828455112098911GA93736otherFamilial_colorectal_cancer..0.982631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4124828465112098938TA93737otherFamilial_colorectal_cancer..0.43791/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4125828475112099028AG93738otherFamilial_colorectal_cancer..0.43710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4126828595112100027GA93750otherFamilial_colorectal_cancer..0.621010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4127828635112100595AC93754otherFamilial_colorectal_cancer..0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4128828685112101457GT93759otherFamilial_colorectal_cancer..0.542930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4129828695112101496GA93760otherFamilial_colorectal_cancer..0.982431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4130828715112101793CA93762otherFamilial_colorectal_cancer..0.737820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4131828785112103963CG93769otherFamilial_colorectal_cancer..0.43750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4132828805112104297AG93771otherFamilial_colorectal_cancer..0.43830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4133828845112105223AT93775otherFamilial_colorectal_cancer..0.432910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4134828875112107058GA93778otherFamilial_colorectal_cancer..0.43490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4135828895112107726CT93780otherFamilial_colorectal_cancer..0.432510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4136828965112108865TC93787otherFamilial_colorectal_cancer..0.455870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4137829015112109779GC93792otherFamilial_colorectal_cancer..0.631790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4138829105112111070GA93801otherFamilial_colorectal_cancer..0.982431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4139829155112111866GC93806otherFamilial_colorectal_cancer..0.431910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4140829245112113527AT93815otherFamilial_colorectal_cancer..0.43810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4141829255112113735CT93816otherFamilial_colorectal_cancer..0.445490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4142829265112113760TC93817otherFamilial_colorectal_cancer..0.74840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4143829275112113772GA93818otherFamilial_colorectal_cancer..0.43610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4144829345112116024CT93825otherFamilial_colorectal_cancer..0.524960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4145829355112116069GA93826otherFamilial_colorectal_cancer..0.649160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4146829395112116773AG93830otherFamilial_colorectal_cancer..0.452080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4147829485112118195GA93839otherFamilial_colorectal_cancer..0.617210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4148829505112118956CT93841otherFamilial_colorectal_cancer..0.433510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4149829665112122532GC93857otherFamilial_colorectal_cancer..0.443090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4150829805112124369TC93871otherFamilial_colorectal_cancer...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4151830125112130086CA93903otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4152830185112131288AG93909otherFamilial_colorectal_cancer..0.466650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4153830195112131787AG93910otherFamilial_colorectal_cancer..0.449880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4154830305112135067TC93921otherFamilial_colorectal_cancer..0.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4155830315112135090GA93922otherFamilial_colorectal_cancer..0.443091/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4156830365112135737AG93927otherFamilial_colorectal_cancer..0.43890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4157830375112136204AG93928otherFamilial_colorectal_cancer..0.43890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4158830465112138734GA93937otherFamilial_colorectal_cancer..0.746610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4159830475112138888GC93938otherFamilial_colorectal_cancer..0.665340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4160830495112139745AG93940otherFamilial_colorectal_cancer..0.43810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4161830705112144023AG93961otherFamilial_colorectal_cancer..0.441890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4162830715112144444AT93962otherFamilial_colorectal_cancer..0.43490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4163830735112144954TC93964otherFamilial_colorectal_cancer..0.739220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4164830755112145261CA93966otherFamilial_colorectal_cancer..0.432310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4165830815112146197TG93972otherFamilial_colorectal_cancer..0.43610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4166830895112149757TC93980otherFamilial_colorectal_cancer..0.785140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4167831105112153119CT94001otherFamilial_colorectal_cancer..0.694690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4168831125112153495AG94003otherFamilial_colorectal_cancer..0.746610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4169831135112153665CT94004otherFamilial_colorectal_cancer..0.695090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4170831185112153996CG94009otherFamilial_colorectal_cancer..0.737220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4171831215112154303TG94012otherFamilial_colorectal_cancer..0.705670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4172831275112155504CG94018otherFamilial_colorectal_cancer..0.737220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4173831285112155793GC94019otherFamilial_colorectal_cancer..0.683910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4174831365112158431GA94027otherFamilial_colorectal_cancer..0.679110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4175831395112159385AG94030otherFamilial_colorectal_cancer..0.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4176831405112159470AG94031otherFamilial_colorectal_cancer..0.43570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4177831425112159562AG94033otherFamilial_colorectal_cancer..0.816290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4178831525112161469CA94043otherFamilial_colorectal_cancer..0.43810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4179831575112162413AG94048otherFamilial_colorectal_cancer..0.497010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4180422385112162854TC51408BenignHepatocellular_carcinoma|Neoplasm_of_stomach|C...0.462170.577980.509980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4181831625112164238CT94053otherFamilial_colorectal_cancer..0.674120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4182422395112164561GA51409BenignHereditary_cancer-predisposing_syndrome|Famili...0.586440.648110.666130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4183831635112164862GA94054otherFamilial_colorectal_cancer..0.43990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4184831815112166862GA94072otherFamilial_colorectal_cancer..0.432110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4185831825112167130TG94073otherFamilial_colorectal_cancer..0.69010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4186831835112167587TC94074otherFamilial_colorectal_cancer..0.433910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4187831845112167821CT94075otherFamilial_colorectal_cancer..0.620010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4188831855112167941CG94076otherFamilial_colorectal_cancer..0.620610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4189831865112168065AG94077otherFamilial_colorectal_cancer..0.620210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4190831875112168130GC94078otherFamilial_colorectal_cancer..0.620010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4191831965112169525TA94087otherFamilial_colorectal_cancer..0.737220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4192832095112170358GA94100otherFamilial_colorectal_cancer...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4193832265112172219GA94117otherFamilial_colorectal_cancer..0.677520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4194832285112172786GT94119otherFamilial_colorectal_cancer..0.675520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4195832295112172930TC94120otherFamilial_colorectal_cancer..0.50060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4196422425112175770GA51412BenignHereditary_cancer-predisposing_syndrome|Famili...0.586220.648570.665540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4197422435112176325GA51413BenignHereditary_cancer-predisposing_syndrome|Famili...0.590130.651390.666730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4198422455112176559TG51415BenignHereditary_cancer-predisposing_syndrome|Famili...0.58799.0.666930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4199210305112176756TA33882BenignHereditary_cancer-predisposing_syndrome|Famili...0.826260.798110.865421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4200422475112177171GA51417BenignHereditary_cancer-predisposing_syndrome|Famili...0.586910.648810.666530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42013504305112180228CCA300417BenignAPC-Associated_Polyposis_Disorders...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4202832605112180921TC94151BenignFamilial_colorectal_cancer|APC-Associated_Poly.....0.43690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4203832625112181379CG94153BenignFamilial_colorectal_cancer|APC-Associated_Poly.....0.441890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4204832635112181576GA94154BenignFamilial_colorectal_cancer|APC-Associated_Poly.....0.697280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4205832685112182232AT94159otherFamilial_colorectal_cancer..0.697680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4206832725112182379GA94163otherFamilial_colorectal_cancer..0.697680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4207832755112182691AG94166otherFamilial_colorectal_cancer..0.517570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4208832765112183157AG94167otherFamilial_colorectal_cancer..0.446690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4209832845112184490TC94175otherFamilial_colorectal_cancer..0.462860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4210832925112185393AC94183otherFamilial_colorectal_cancer..0.705670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4211832965112185451AG94187otherFamilial_colorectal_cancer..0.706270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4212832975112185491AG94188otherFamilial_colorectal_cancer..0.705870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4213832985112185513AC94189otherFamilial_colorectal_cancer..0.446290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4214833005112186064CA94191otherFamilial_colorectal_cancer..0.729230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42157693035112406785GGCCTCGCGCTGTCTT777467Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42167693045115249078CT698737Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42173504575118788196CG294951BenignBifunctional_peroxisomal_enzyme_deficiency|Per.....0.406350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42181980795118811533GA195240BenignBifunctional_peroxisomal_enzyme_deficiency|Per....0.440040.362620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42192266675118861713AG229226BenignBifunctional_peroxisomal_enzyme_deficiency|Per...0.404410.410990.400160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42203504755118877933TTA296734BenignBifunctional_peroxisomal_enzyme_deficiency|Per......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4221143635121413208CT29402BenignLYSYL_OXIDASE_POLYMORPHISM.0.172810.156750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42227693055122425971AACCTCCGCCT698749Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42233505205125877635AG295016BenignPyridoxine-dependent_epilepsy..0.471851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42243505315125878158CT300529BenignPyridoxine-dependent_epilepsy..0.485621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42253505455125878908CAAT296855Uncertain_significancePyridoxine-dependent_epilepsy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42263505495125878954CAC300605BenignPyridoxine-dependent_epilepsy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42273505605125879549CT295051BenignPyridoxine-dependent_epilepsy..0.491611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42283505715125879850GC300644BenignPyridoxine-dependent_epilepsy..0.575881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42293505805125880589TC300539BenignPyridoxine-dependent_epilepsy0.4343.0.360621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42306708215125886071CT660644Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42316679625125895313TC660703Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42326747015125896918CA660704Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42333505885125930950CT300549Benign/Likely_benignPyridoxine-dependent_epilepsy.0.034230.012380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42343506225126171999TC300706BenignLeukodystrophy,_Adult-Onset0.652590.675130.672721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42353506235126172195CT300712BenignLeukodystrophy,_Adult-Onset..0.447881|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42363506315126626645GA295112Likely_benignMyopathy,_areflexia,_respiratory_distress,_and.....0.340660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42376831575126674613AG660863Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42386831825126738041AC660679Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42392620605126746277CT251627BenignMyopathy,_areflexia,_respiratory_distress,_and...0.940950.944720.973441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42406831835126746434GA660509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42416714905126756195GC660683Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42422620655126769146TC251629Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and...0.196530.162390.191490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42436714925126773859AC660868Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42446715135126790841TG660775Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42452620755126791282GA251637Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and...0.14370.141960.120610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42462620765126792974TA251638Benign/Likely_benignMyopathy,_areflexia,_respiratory_distress,_and...0.493390.527510.3780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42473506775126793219CG300797BenignMyopathy,_areflexia,_respiratory_distress,_and.....0.641571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42483506815126793635AG300798Likely_benignMyopathy,_areflexia,_respiratory_distress,_and.....0.080870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42493507005126795159GA295172Likely_benignMyopathy,_areflexia,_respiratory_distress,_and.....0.245810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42503507035126795246CA300658BenignMyopathy,_areflexia,_respiratory_distress,_and.....0.639781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42513507135126796531TCAT297005Likely_benignMyopathy,_areflexia,_respiratory_distress,_and......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42523507175126796585TG300673BenignMyopathy,_areflexia,_respiratory_distress,_and.....0.647171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42533507435127594512TC295239BenignCongenital_contractural_arachnodactyly..0.985621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42546835375127610002CT660909Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42556784905127611499AT660546Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42566835365127613299GT660914Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42576723255127613791CG660922Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42581290495127614472AG134495BenignCongenital_contractural_arachnodactyly|not_spe...0.677920.728110.726641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42591373475127622983CT141050BenignCongenital_contractural_arachnodactyly|not_spe...0.443570.518420.357631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42601373455127625559TC141048BenignCongenital_contractural_arachnodactyly|not_spe...0.126310.196830.144171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42616723235127638464AC660957Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42626733445127638553TC660801Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42636710045127640861AG660745Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42646723225127645287TA660807Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42656723215127648188GA660965Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42666835315127668991CT660969Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42676723185127671924AG660562Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42686835305127674132GA660564Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42696699725127675017CT660762Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42706784895127680818CT660847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42716835295127681574GA660785Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42721290395127685135CT134485BenignCongenital_contractural_arachnodactyly|not_spe....0.723390.731031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42736696395127744825CT660991Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42746742655127854758CT660866Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42756742645127854848TA660995Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42763507985127873605TC295269BenignCongenital_contractural_arachnodactyly..0.43750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42776750975127873807CT660812Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42787746335130764699AT698766Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
427957505131676320CT20789BenignSLC22A4_POLYMORPHISM.0.291270.134390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42803508065131705458CG300783BenignRenal_carnitine_transport_defect..0.733030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4281940995131705949TC99999BenignRenal_carnitine_transport_defect|not_specified...0.34970.496830.486220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42826705725131714409CT661014Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4283253825131719999AG36716BenignRenal_carnitine_transport_defect|not_specified....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4284253835131720070AG36717BenignRenal_carnitine_transport_defect..0.486020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4285941015131721174AG100001BenignRenal_carnitine_transport_defect|not_specified...0.378290.439260.486220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4286941025131721204TC100002BenignRenal_carnitine_transport_defect|not_specified...0.37390.43990.486020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42876701065131724950TC660900Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42886701075131729118AC660851Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42893508205131730052CAC300792BenignRenal_carnitine_transport_defect...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42903508275131730807TC300804BenignRenal_carnitine_transport_defect..0.744211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42913508315131730923AAC300759BenignRenal_carnitine_transport_defect..0.767371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4292146735131995964AG29712risk_factorAllergic_rhinitis,_susceptibility_to|Asthma,_s....0.733630.730030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42931374595132198100CT141162Benignnot_specified0.185530.142630.134780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42943508515132203952GA295333Likely_benignMitochondrial_complex_III_deficiency,_nuclear_.....0.105430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42953508525132203997AG300854Likely_benignMitochondrial_complex_III_deficiency,_nuclear_.....0.170730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42963508545132204031GA295343Likely_benignMitochondrial_complex_III_deficiency,_nuclear_.....0.047920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42972868685134364518CG271105Benignnot_specified0.216590.300140.319890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42982186435136834138TC215308Benignnot_specified0.008840.009230.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
42993509235136953577TC301103BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.62660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43003509425136954719TC297212BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.62680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43013509435136954861AG297218BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.300321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43023509565136955707TG301170BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.12360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43033509655136956477GA301186BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.295530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43043509765136957466TACT295447Uncertain_significancePseudohypoaldosteronism_type_1_autosomal_dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43052608095137028029TC251708BenignPseudohypoaldosteronism_type_1_autosomal_domin...0.779030.79260.828080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43061673175137206560AC177851BenignMyofibrillar_myopathy_3|not_specified0.985160.99591.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43076676215137211268TG661034Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43087703575137527948CT777510Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43096700835138356756GA660862Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43106700825138356775CA660653Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43116700815138357211AG660870Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43126700805138362283CT660657Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43136700795138386859CA660912Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4314960855138456815TC101979BenignMarinesco-Sjögren_syndrome|not_specified|not_p...0.514220.435440.426920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43153511115138609609CG297367BenignDistal_myopathy.0.632490.420330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43163511175138642997AAT297372BenignDistal_myopathy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43172632075138643062TA251790BenignDistal_myopathy|not_specified0.54422.0.446490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43183511585138665756GA301471BenignDistal_myopathy.0.62354.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43193511705138666372TG297420BenignDistal_myopathy.0.657410.399960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43204035505138857919TC389615BenignSting-associated_vasculopathy,_infantile-onset...0.870060.875990.87281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43214035515138861146CG389619Benignnot_specified0.53929.0.428511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43226715555140077699AG660924Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43237696595140475980GA698859Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43247680375140559532GC698871Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43257680385140580931CG698873Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43263512855140896402GA301552Uncertain_significanceNonsyndromic_Hearing_Loss,_Mixed0.00103.0.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43276831995140896599TC660930Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43285126785141336264GT501336Benignnot_specified0.63286..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43293513145142657621TC301396Likely_benignGlucocorticoid_resistance,_generalized..0.083870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43303513215142658156CA301406Likely_benignGlucocorticoid_resistance,_generalized..0.401560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43312145695145500084AC211128Benignnot_specified0.000540.002930.00220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43326841595145512951GC660876Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43336715575145515379CT660882Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43346841575145524514AG661069Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43356841505145533786AT661071Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43366841485145537535CT661081Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43376841465145539259GC660699Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43386841385145543579GA660705Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43396841285145552542TC660997Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43406732945147445023CG660897Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43412600485147450028CT251798Benign/Likely_benignNetherton_syndrome|not_specified0.036740.048220.066890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43426771085147450247AG660925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43436676275147451416AG661089Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43441392545147466001GA142957Benign/Likely_benignNetherton_syndrome|not_specified0.023040.044230.052320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43456733975147474357AT660932Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43466732975147475627GA660721Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43476771165147478574CG660723Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43481392585147480080GA142961BenignNetherton_syndrome|not_specified0.231710.21190.348240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43496771185147486359CT660736Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43501392615147492461TC142964Benign/Likely_benignNetherton_syndrome|not_specified0.026340.044780.053910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43516744245147493780TG661102Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43526771395147498849CT661106Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43536676335147503820AC661129Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43541392635147504315AT142966BenignNetherton_syndrome|not_specified0.708580.808480.829270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43556742835147504905AG661132Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43563515415147506593AG295922Benign/Likely_benignNetherton_syndrome0.023550.024710.010180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43573515465147516598TC295931BenignNetherton_syndrome0.441470.411670.491011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43583515495147516762CG301666BenignNetherton_syndrome..0.491011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43593515535147516914AACTC295937BenignNetherton_syndrome..0.491011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43602259375148206440GA227753drug_responsesalbutamol_response_-_Efficacy|salmeterol_resp....0.420360.475640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43613515625148361720AAT301872Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43623515935148364355AG296006BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.802320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43633515945148364701CT296012Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.471650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43643516055148365234TC301704Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.509190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43653516095148365720CA301939BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.797320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43663516165148366571TC296023BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.62340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43673516225148367324AG297801BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.788140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43683516345148367643CT297822Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.461260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43693516435148368254TG301736BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.618010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43703516455148368451AG297828BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.798120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43713516585148369418GT302017Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.197280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43723516615148369508AT302031Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.493610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43733516645148369712CT301788Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.197880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43743516945148372884TC301849BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.529750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43753517485148375651CAC301874Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43763517585148376026CG301896Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.198280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43773517615148376163TG302127Uncertain_significanceMononeuropathy_of_the_Median_Nerve|Charcot-Mar......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43783517695148376982GA301906Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.492210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43793518015148378475GA301946Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.202880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43803518085148378784CT302199BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.529150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43813518355148380580AT297965Uncertain_significanceMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.007190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43823518395148381078AG301974Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.349640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43833518415148381138CT302232BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.990421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43843518435148381197GA302233BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.529750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43853518485148381318GA297978Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43863518665148382365CA297984Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.203470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43873518685148382635AG297996Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar.....0.203670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43883518745148383345CG301987Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar....0.291910.31270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43891302995148386525TG135746Benign/Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar...0.45971.0.383390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43906700775148389608GC661049Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43916733895148389763GA660956Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43926717205148392362AG660749Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43936726285148392538CT660966Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43941302985148407708AC135745BenignMononeuropathy_of_the_Median_Nerve|Charcot-Mar...0.97770.978470.990621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43951302975148407893CA135744Benign/Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar...0.23828.0.196290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43961302965148408101AG135743Benign/Likely_benignMononeuropathy_of_the_Median_Nerve|Charcot-Mar...0.48470.445610.43710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43976700745148411369CT661150Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43986843595148432061CA661051Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
43996843585148443080TC661057Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
440020395149212243GC17078BenignObesity,_variation_in.0.096190.109630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44013519485149238348TC298082Likely_benignRetinitis_Pigmentosa,_Recessive..0.539140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44023519545149238449AG302356Likely_benignRetinitis_Pigmentosa,_Recessive..0.546330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44033519625149239093CT296264Likely_benignRetinitis_Pigmentosa,_Recessive..0.55970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44043519705149239662TC298085BenignRetinitis_Pigmentosa,_Recessive..0.584060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44053519715149239702AG302383BenignRetinitis_Pigmentosa,_Recessive..0.596250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44063519725149239850AG296270BenignRetinitis_Pigmentosa,_Recessive..0.584270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44073519755149240216AAT302132Likely_benignRetinitis_Pigmentosa,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44081386325149323772GA142335Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.175460.199820.2490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44091386375149323906TG142340Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.20737.0.282550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4410655595149360630CT76467Benign/Likely_benignAchondrogenesis|Osteochondrodysplasia|Diastrop...0.01530.016920.007590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44111962095149360877TC193370BenignAchondrogenesis|Osteochondrodysplasia|Diastrop...0.993230.99277.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44123520465149362400TG302205BenignAchondrogenesis|Osteochondrodysplasia|Diastrop.....0.273960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44133520755149364780CT302455BenignAchondrogenesis|Osteochondrodysplasia|Diastrop.....0.992011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44143520885149365836GTG302486BenignAchondrogenesis|Osteochondrodysplasia|Diastrop......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44153521075149433120AG302554BenignHereditary_diffuse_leukoencephalopathy_with_sp.....0.116010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44163521145149433400GGC302563BenignHereditary_diffuse_leukoencephalopathy_with_sp.....0.452281|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44173521655149457678GA302347BenignHereditary_diffuse_leukoencephalopathy_with_sp...0.48070.515310.387381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44183521795149460553AG302657BenignHereditary_diffuse_leukoencephalopathy_with_sp...0.47370.487180.335261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44192587795149495395TC251818Benignnot_specified0.398970.347430.285340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44202587785149497177TC251819Benignnot_specified0.410660.35640.298920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44217127605149499618GA721302Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44222587765149499672TC251821Benignnot_specified0.281020.287120.236420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44234651965149677818GA454819BenignSpastic_paraplegia0.036830.034110.024361/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44243521895149737221TG296414BenignTreacher_Collins_Syndrome,_Dominant..0.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44251305705149759201CT136016Benign/Likely_benignnot_specified|Treacher_Collins_Syndrome,_Domin...0.022450.008750.022760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44261305715149772280CG136017Benign/Likely_benignnot_specified|Treacher_Collins_Syndrome,_Dominant0.17061.0.081470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44271305745149776232CT136020Benignnot_specified|Treacher_Collins_Syndrome,_Dominant0.210290.292180.224040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44281305755149776355GC136021Benign/Likely_benignTreacher_Collins_syndrome_1|not_specified|Trea...0.015310.023080.010780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4429307165150227998CT39673PathogenicInflammatory_bowel_disease_190.194920.19130.303710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44301671505150639409AG176964BenignTay-Sachs_disease,_variant_AB|not_specified|no...0.608640.66450.663940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44311671515150639439AG177227BenignTay-Sachs_disease,_variant_AB|not_specified|no...0.72290.762270.860220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44323522595150647239AG302730BenignTay-Sachs_disease,_variant_AB0.39860.444370.443490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44333522775150647956TC296480BenignTay-Sachs_disease,_variant_AB..0.710660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44343522785150648242CCA302473BenignTay-Sachs_disease,_variant_AB...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44353522815150648284TTC296485BenignTay-Sachs_disease,_variant_AB...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44363522845150648457GA302476BenignTay-Sachs_disease,_variant_AB..0.288941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44373522915150649153CT298381BenignTay-Sachs_disease,_variant_AB..0.464061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44383523005150649725TAATAT298400BenignTay-Sachs_disease,_variant_AB...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44393523285151304306GA296512BenignHyperekplexia..0.416130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4440481145155754192CG57278BenignDelta-sarcoglycanopathy|not_specified|Dilated_.....0.460460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44416700585155756299AG661163Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44426725295155756414GA660756Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44436720395155771356AG660763Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4444481255155771579TC57289BenignLimb-girdle_muscular_dystrophy,_type_2F|Delta-...0.377660.466050.485420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44456720405155771773AG661076Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44466720415155771879GA661077Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44476720425156074713AC661000Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44483523535156187928CT302542BenignDelta-sarcoglycanopathy|Dilated_Cardiomyopathy.....0.207271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44493524305156193118GA302910BenignDelta-sarcoglycanopathy|Dilated_Cardiomyopathy.....0.927121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44503524885156680685AG296664BenignLymphoproliferative_syndrome..0.833471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44512574335156887133AG251833BenignCongenital_ichthyosiform_erythroderma|not_spec...0.317290.50.442490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44522574365156898690AG251834BenignCongenital_ichthyosiform_erythroderma|not_spec...0.449350.534660.504590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44532574345156899869TC251835BenignCongenital_ichthyosiform_erythroderma|not_spec...0.972280.976710.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44543525265156900047CT303000Likely_benignCongenital_ichthyosiform_erythroderma..0.038740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44553525325156900534CA303001Likely_benignCongenital_ichthyosiform_erythroderma..0.038740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44563525385156900878AT302695BenignCongenital_ichthyosiform_erythroderma..0.505390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44573525435156901324TC298563BenignCongenital_ichthyosiform_erythroderma..0.906951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44583525485156901615TC303014Likely_benignCongenital_ichthyosiform_erythroderma..0.049320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44593525515156901701GT302697Likely_benignCongenital_ichthyosiform_erythroderma..0.024760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44603525545158742014GT303018BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_R.....0.920331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44613525695158742950TG298595BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_R.....0.359030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44626687915160762174CT661194Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44633525925161275302AG296742Likely_benignJuvenile_myoclonic_epilepsy..0.179510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44646706535161302728GA661208Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44656687905161309303AG661040Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44666689495161310002AG661209Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44672568165161322654TC251837Benignnot_specified0.052440.107620.076881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4468934315161322889GA99338Benign/Likely_benignJuvenile_myoclonic_epilepsy|not_specified0.637860.619140.596051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44696817255161323872CT661046Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44703526085161324898AG302875Likely_benignJuvenile_myoclonic_epilepsy..0.581070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44713526145161325934AC302888Likely_benignJuvenile_myoclonic_epilepsy..0.580470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44723526375161494990GAG298652Conflicting_interpretations_of_pathogenicitySeizures|Generalized_epilepsy_with_febrile_sei......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4473934345161528280CT99341BenignSeizures|Familial_febrile_seizures_8|Generaliz...0.307090.285410.371610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44746817425161529369CT661109Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44755859035161529571AG576800Benignnot_provided.0.820580.821291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44766751855161529731GA661217Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44776802925161529808CT661221Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44786749895161576418CA661056Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44793526555161580983CT298702BenignGeneralized_epilepsy_with_febrile_seizures_plu.....0.379390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44803526565161581035TA302924BenignGeneralized_epilepsy_with_febrile_seizures_plu.....0.514580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44813526715161582493CATC296799BenignGeneralized_epilepsy_with_febrile_seizures_plu.....0.302320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
448212135167845791CT16252associationMemory_quantitative_trait_locus..0.520570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44833800305167913510GA368366BenignLeukodystrophy,_hypomyelinating,_9|not_specified0.62039.0.680310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44846836485167921389AG661245Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44856733985167928732AAATT661136Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44863800055167943827GA368381Benignnot_specified0.727660.677110.784150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44878021755169097474GC790535BenignImmunodeficiency_40...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44882602125169535522TC251840BenignPendred_syndrome|not_specified|Nonsyndromic_He...0.907580.90890.929511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44893527175169536055GA298785BenignPendred_syndrome|Nonsyndromic_Hearing_Loss,_Mixed..0.916731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44903527195169536150AG303136Likely_benignPendred_syndrome|Nonsyndromic_Hearing_Loss,_Mixed..0.868610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44913527295171760569AG303002BenignFrank_Ter_Haar_syndrome..0.68551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44923527385171761338CT303009Likely_benignFrank_Ter_Haar_syndrome..0.111220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44933527475171762100CA298798BenignFrank_Ter_Haar_syndrome..0.715861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44943527535171762442AAC296845BenignFrank_Ter_Haar_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44953527555171762575AG298803BenignFrank_Ter_Haar_syndrome..0.56470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44963527585171762777TC296848BenignFrank_Ter_Haar_syndrome..0.589460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44973527665171763533GGT298810BenignFrank_Ter_Haar_syndrome..0.56110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44983527705171763862TC303251BenignFrank_Ter_Haar_syndrome..0.552720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
44993527745171764101GGC296852BenignFrank_Ter_Haar_syndrome..0.613420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45003527755171764120TC296861BenignFrank_Ter_Haar_syndrome..0.683310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45013527775171764158TC303090BenignFrank_Ter_Haar_syndrome..0.703080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45023527865171764665CT298829BenignFrank_Ter_Haar_syndrome..0.549320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45035937825171765540CA584845Uncertain_significancenot_provided0.000460.00016.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45042570585171785892AG251843BenignFrank_Ter_Haar_syndrome|not_specified|not_prov...0.723510.741290.782750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45052570565171849471GA251844BenignFrank_Ter_Haar_syndrome|not_specified0.261110.361270.37460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45063528315171881412GC303303Likely_benignFrank_Ter_Haar_syndrome..0.042530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45073528325171881423GA303304BenignFrank_Ter_Haar_syndrome..0.216650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4508448375172662024TC54004Benignnot_specified|Cardiovascular_phenotype0.404190.405220.535741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45092586575174156168TC251846BenignCraniosynostosis|Enlarged_parietal_foramina|Pa...0.75527.0.765780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45103528495174157096AG303322BenignCraniosynostosis|Enlarged_parietal_foramina..0.780950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45113528585174157583GGA298886BenignCraniosynostosis|Enlarged_parietal_foramina...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45123528625174157711AG303333BenignCraniosynostosis|Enlarged_parietal_foramina..0.775960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45133528635174157732TC298892BenignCraniosynostosis|Enlarged_parietal_foramina..0.775760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45143528645174157762GC298907BenignCraniosynostosis|Enlarged_parietal_foramina..0.829870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45155110815174870150CT501106Likely_benignnot_specified0.711990.680070.755391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4516163265176520243GA31365PathogenicCancer_progression_and_tumor_cell_motility.0.320980.299520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45176677295176630984TC661172Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45188021805176636545AGA790540BenignSotos_syndrome_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4519960355176636882CT101929BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.354140.299910.468050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4520960385176637149GA101932BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.100430.17646.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4521960425176637240GT101936BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.09934.0.228630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4522960435176637576TC101937BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.126330.198690.24960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45236704745176639304CG661112Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45246677325176710547CG660844Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45256736095176719409CA661176Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4526960735176721198TC101967BenignSotos_syndrome|Weaver_syndrome|History_of_neur...0.89897.0.771370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45273529255176726002TC297072BenignSotos_syndrome|Weaver_syndrome..0.763980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45283529325176726635GA298992BenignSotos_syndrome|Weaver_syndrome..0.229230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45293529465176727058GCCCGCC,G303412Uncertain_significanceSotos_syndrome|Weaver_syndrome...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
45303529945176831184CG299067Likely_benignFactor_XII_deficiency_disease|Hereditary_Angio....0.000730.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45312563105176831826CG251869BenignFactor_XII_deficiency_disease|not_specified|He...0.9769.0.93951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45323837785177031348TC368113BenignEhlers-Danlos_syndrome_progeroid_type|not_spec...0.632650.660840.661341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45336780085177031602CG661121BenignEhlers-Danlos_syndrome_progeroid_type|not_prov......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45346832735177034786TC661124Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45353775475177035964TC369819BenignEhlers-Danlos_syndrome_progeroid_type|not_spec...0.574810.590310.605031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45366784505177036043AG661130Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45373530095177419356CT299071Likely_benignCombined_Pituitary_Hormone_Deficiency,_Recessive..0.226640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45381964345177419967CT193595Benign/Likely_benignnot_specified|Combined_Pituitary_Hormone_Defic...0.238120.244980.204670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45393530165177422823CT303460Benignnot_specified|Combined_Pituitary_Hormone_Defic...0.55820.511350.506591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4540996475178409856CT105536not_providednot_provided..0.455871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4541996295178413816TC105518not_providednot_provided0.57690.60640.544530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4542996285178413947TC105517Benignnot_specified|not_provided0.568430.59970.535540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4543996275178415937AG105516Benignnot_specified|not_provided0.494460.532830.506990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45441981055178415982AG195266Benignnot_specified0.982160.995190.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4545996265178416063GA105515Benignnot_specified|not_provided0.488240.52564.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4546996255178416288GA105514Benignnot_specified|not_provided0.737660.724140.721651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4547934385178421770TG99345Benignnot_specified|not_provided0.635890.489060.551920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45483530485178538472GA299123BenignEhlers-Danlos_syndrome_dermatosparaxis_type..0.346250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45493530645178539400TC303530BenignEhlers-Danlos_syndrome_dermatosparaxis_type..0.804511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45503530735178540026AG299155BenignEhlers-Danlos_syndrome_dermatosparaxis_type..0.524561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45513530805178540656TG303573BenignEhlers-Danlos_syndrome_dermatosparaxis_type..0.523361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45526827065178552715GA660846Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45536831365178564499CT661277Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45542880855178581797CT272322BenignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.180670.311310.231230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45552880845178581859GA272321BenignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.186910.267050.228440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45563531295178634547GA297224Benign/Likely_benignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.173610.172240.135780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45573531305178634619CT303644BenignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.915270.929620.924521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45583531345178634672CT299197BenignEhlers-Danlos_syndrome_dermatosparaxis_type|no...0.325160.355420.431910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45596826865178635005CT661310Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45602260185179220638AC227754drug_responseaspirin_response_-_Toxicity/ADR..0.170131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45612591895179260153CT251873Benign/Likely_benignPaget_disease_of_bone|Paget_disease_of_bone_2,...0.597190.624790.693691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45622591915179260213GA251875Benign/Likely_benignPaget_disease_of_bone|Paget_disease_of_bone_2,...0.498460.611450.587261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45633531825179264731TC297272Likely_benignPaget_disease_of_bone0.619790.626240.68791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45643531865179264915GT297284Likely_benignPaget_disease_of_bone0.650170.632910.722841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45652630525180036871CG251885Benignnot_specified0.05567.0.086860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45662630445180043388GA251893Benignnot_specified0.252580.269970.240421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45672630365180047863CG251900Benignnot_specified0.953140.987590.960061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45682630335180048035TC251902Benignnot_specified0.054560.076430.096251|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45692630345180048056CT251903Benignnot_specified0.248540.242250.243211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45702630225180053090GA251914Benignnot_specified0.037230.052220.083270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45712630215180053097CT251915Benignnot_specified0.041230.053220.086060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45722630205180053307AG251916Benignnot_specified0.930390.981110.941491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45732630725180056044GA251922Benignnot_specified0.27540.299640.212461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45742630705180056863CT251925Benignnot_specified0.046620.033710.032350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45751603466396321CT170189AffectsSkin/hair/eye_pigmentation,_variation_in,_8..0.036740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
457676931361313980CG699313Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
457719321361611802GGGGC190378Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
45784413262955802TC53300Benignnot_specified0.220280.264450.212860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
457937883563154871AC368891Benign/Likely_benignnot_specified|not_provided0.48770.548750.400560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458068082463157354CG661694Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458168063265109945CT662253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458268062865144189TC661802Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458368062765144192CT662244Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458468063065144667CT662246Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458538003565260936AC370498Benignnot_specified|not_provided0.414260.357720.402961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458667627865261136GA655746Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458767627765261263CT661805Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458867623765261292GA662250Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
458968062665261359AG662252Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459068063465261460AC662254Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459113729265431340AG140995BenignCombined_oxidative_phosphorylation_deficiency_...0.15216.0.235220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459268056465431571GA661812Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459368057265545816AG662256Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459435765066144857CA300849Likely_benignFactor_XIII_subunit_A_deficiency..0.093450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459535766266145692CT308466Likely_benignFactor_XIII_subunit_A_deficiency..0.142170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459635766366145726AG308467Likely_benignFactor_XIII_subunit_A_deficiency..0.523361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459725518666152137CG252445Benign/Likely_benignFactor_XIII_subunit_A_deficiency|not_specified0.221740.20870.193891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459825518566152140CT252446Benign/Likely_benignFactor_XIII_subunit_A_deficiency|not_specified0.049520.067590.072280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
459925518366174866GA252448Conflicting_interpretations_of_pathogenicityFactor_XIII_subunit_A_deficiency|not_specified...0.192530.215960.240421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460025518266222249TC252449Benignnot_specified0.015220.009160.009780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46011653266318795CA31571Conflicting_interpretations_of_pathogenicityFactor_XIII_subunit_A_deficiency|Venous_thromb.....0.147760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460235768066320808TG300863BenignFactor_XIII_subunit_A_deficiency..0.881991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460368347367541611GC661960Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460466883467555634GGTTTA661964Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460568348767555666AG662338Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460613716767558318TC140870Benignnot_specified0.215980.195260.156150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460767220367563756GA662354Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46084495267563983TG54119Likely_benignnot_specified..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
460967848167566386TC662389Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461067213067566415TC662321Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461125938167567970CT252531Benignnot_specified|not_provided0.782180.758640.772760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461267213267568354GT662362Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461367213367570963AG662330Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461468347567571327GT662334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461567101567571874GA662336Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46164487067572262AG54037Benignnot_specified|Cardiovascular_phenotype|not_pro...0.785870.761440.774360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461767213467574805CT662341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
461867220467576368GA662393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46194487767576527GA54044BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.748120.771790.735420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462067220567577079GA662370Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46214488667577260CT54053BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.268840.243830.275160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462267213567577354CA662345Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462368347667577744AG662347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462467848267578343GC661994Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462525938367578819TG252533Benignnot_specified|not_provided0.753420.773160.740020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462625938467578823GA252534Benignnot_specified|not_provided0.778330.779880.764380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462767213767578970CT662353Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462867213867579311GT662000Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
462967214967579363AT662355Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46304492567581636GA54092BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.194140.172410.240420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46314494767584617CT54114BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.302250.288060.211660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
46324496767585967GC54134BenignCardiomyopathy|Arrhythmogenic_right_ventricula...0.688070.711670.709470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
463335797367586308CT304041BenignArrhythmogenic_right_ventricular_cardiomyopath.....0.273561|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
463435797467586386TCTCT308774Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.009190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4635369512610882100GA353741BenignHypoparathyroidism_familial_isolated..0.985621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4636402937612124587CG389713Benignnot_specified0.308360.319890.2481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
463716652612296255GT31691BenignHigh_density_lipoprotein_cholesterol_level_qua....0.234460.24740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4638262012615593240TC252214Benignnot_specified0.79223.0.888380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4639262009615663118TC252217BenignHermansky-Pudlak_syndrome|not_specified0.182940.177430.113820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
464015961616290761TA31000BenignGMP_REDUCTASE_POLYMORPHISM.0.54440.706270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4641128505616327615AG133954Likely_benignnot_specified0.70729.0.780150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4642682615624175124TC662024Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4643516888624291203TC501923Benignnot_specified0.482470.639270.516971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4644128343624503590CT133792BenignSuccinate-semialdehyde_dehydrogenase_deficienc...0.371210.31950.31470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4645356135624505221GA302268BenignSuccinate-semialdehyde_dehydrogenase_deficiency0.26080.224130.192690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4646356145624534193CA299675BenignSuccinate-semialdehyde_dehydrogenase_deficiency..0.380590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4647356175624535780GA306974BenignSuccinate-semialdehyde_dehydrogenase_deficiency..0.267970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4648517548624806594CT496515Benignnot_specified0.462770.460840.357831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4649517553624809936AT496900Benignnot_specified0.121330.131350.099040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4650499652624825511AG491076Benignnot_specified0.737850.807830.753991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4651508154624828490CT496434Benignnot_specified0.240910.198460.226841|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4652129225626091336TC134671Benign/Likely_benignHereditary_hemochromatosis|not_specified|not_p...0.345840.36860.426720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4653162166630774357GA171879not_providednot_provided..0.765781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4654380148630882203TC369052Benignnot_specified|not_provided.0.64170.629791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4655380149630882634CT369054Benignnot_specified|not_provided0.293460.32150.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4656380150630882781GT368843Benignnot_specified|not_provided0.29438.0.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4657380151630883920CT368851Benignnot_specified|not_provided0.293020.320310.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4658669590630884436AG662185Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4659669591630885821GA662048Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4660669592630886350CG662187Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4661669593630887311CT661678Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4662669594630887344TC662051Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4663676450630887780CCTGGGGCGGTGCAGGTGA661680Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4664380153630887988CT369066Benignnot_specified|not_provided0.294430.324680.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4665380154630888161TC370328BenignCombined_oxidative_phosphorylation_deficiency_...0.483160.601050.616211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4666380155630888169GA370350Benignnot_specified|not_provided0.293020.319650.222241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4667380157630890483GT369077BenignCombined_oxidative_phosphorylation_deficiency_...0.2940.324020.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4668380158630890569GT368868Benignnot_specified0.29424.0.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4669380159630890871TC368876Benignnot_specified|not_provided0.480680.605640.615821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4670380160630892322CT368601Benignnot_specified|not_provided0.295510.344550.222051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4671684325630892521GA662148Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4672669595630892592GC662056Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4673380162630893428GA368602Benignnot_specified|not_provided0.289350.329480.223041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4674380163630893728CT369083Benignnot_specified|not_provided0.653040.753010.707871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
467514907631274380TC29946risk_factorHIV-1_viremia,_susceptibility_to..0.367611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4676403084631379817TC389723Benignnot_specified.0.483560.582471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4677403085631379931GA389660Benignnot_specified.0.499980.583271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
467812389631542482CT27428risk_factorAlzheimer_disease,_susceptibility_to|Vascular_.....0.099041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4679356272631914935AG302401BenignMacular_degeneration|Atypical_hemolytic_uremic...0.863630.830550.855431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4680356318631929014AC307147BenignTrichohepatoenteric_syndrome|not_specified0.773950.769950.816691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4681356345631936668TC302482BenignTrichohepatoenteric_syndrome|not_specified0.782780.782610.839661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4682256286632006317CT252221Benignnot_specified.0.78912.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
468365608632006886GA76516BenignClassic_congenital_adrenal_hyperplasia_due_to_...0.23150.334080.214861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4684261115632011204GC252249Benignnot_specified.0.477830.461861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4685261173632020512TC252278Benignnot_specified0.017320.02280.006591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4686261162632026107CT252289BenignEhlers-Danlos-like_syndrome_due_to_tenascin-X_...0.685610.719220.696091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4687261159632029226AG252292Benignnot_specified0.634970.690680.639981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4688261156632029415TC252295Benignnot_specified.0.600820.598641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4689261152632030284GA252299Benignnot_specified.0.379120.218451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4690261150632032743GA252301Benignnot_specified0.358460.44010.398761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4691261136632050067TC252312Benignnot_specified0.47712.0.586261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
469295242632945530GC101141Benignnot_specified0.94048.0.979831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
469346568633131501GA55733Benign/Likely_benignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.017430.019340.006791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4694674800633132338GA661705Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4695674799633134392CA661712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4696674781633136575CT662156Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4697674780633136638GA661724Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4698674779633137727CT662194Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4699674777633138746CAC662075Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
470046566633138955GA55731BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.721930.756280.805311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
470146564633139475TG55729BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.773310.786750.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4702674776633139662AG662077Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4703674775633140009TG662079Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4704674774633140983AG661743Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
470546562633141161AG55727BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.778440.787090.87821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4706262310633141253TG252332Benignnot_specified|not_provided0.53499.0.645171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4707674772633141389CT662088Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
470846560633141475CT55725BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.568830.600650.643171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4709262309633141920GC252333Benignnot_specified|not_provided0.76790.782330.869211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4710674770633142253CG662162Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4711674768633143948CG662101Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
471246558633144243TA55723BenignOtospondylomegaepiphyseal_dysplasia,_autosomal...0.438370.478820.547131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
471346555633147589TG55720BenignOtospondylomegaepiphyseal_dysplasia,_autosomal....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4714675092633152865GA661751Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4715403518633272855GC389769BenignBare_lymphocyte_syndrome_type_1|not_specified0.607640.568150.591251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4716403519633283766TC389749Benignnot_specified0.546750.546520.534341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4717130526633408680GA135972BenignHistory_of_neurodevelopmental_disorder|not_spe...0.100880.104670.050120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4718669588633667965GT662170Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4719669587633679061AG662117Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4720671160633679807AG661775Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4721356425634393591TG306941BenignDiamond-Blackfan_anemia..0.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4722356434634393866GA302561BenignDiamond-Blackfan_anemia..0.070090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4723708924635201057AG722010Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4724261434635423489AG252336Benignnot_specified0.734120.720090.776561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4725261435635423662AC252337BenignFanconi_anemia|not_specified|not_provided0.73566.0.777961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4726261436635425416AG252338Benignnot_specified0.412040.496560.359631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
472794127635477025CG100027BenignLeber_congenital_amaurosis|Leber_congenital_am...0.842230.821470.838460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4728286865635479574GC271102BenignLeber_congenital_amaurosis|not_specified|Retin...0.89984.0.87440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4729226001635669983AG227758drug_responseantidepressants_response_-_Efficacy|citalopram.....0.777960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4730402546635764570GA389770Benignnot_specified.0.17045.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4731356545635791302GC302686Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.293730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4732356546635791408AAG307044Likely_benignNonsyndromic_Hearing_Loss,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4733356552635791635ATA300016Likely_benignNonsyndromic_Hearing_Loss,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4734257572636260858CT252342BenignCongenital_ichthyosiform_erythroderma|not_spec...0.432420.375370.418331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4735257570636274153CT252345BenignCongenital_ichthyosiform_erythroderma|not_spec...0.297170.263150.240420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4736257571636275458TC252346BenignCongenital_ichthyosiform_erythroderma|not_spec...0.660850.640170.648361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4737789885637186693CT710492Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4738414389638757615GA395757BenignPrimary_ciliary_dyskinesia0.028370.025010.020970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4739257631638771096TC252347Benignnot_specified0.144320.150250.081470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4740257626638885010TAT252348Benignnot_specified0.518210.438970.493210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4741402771638905957CT389763Benign/Likely_benignnot_specified|not_provided0.008230.005110.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4742257628638957771TC252350Benignnot_specified0.408270.400290.328470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4743257629638957853AG252351Benignnot_specified0.408350.394280.328670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4744356672639895410TC302841BenignCombined_molybdoflavoprotein_enzyme_deficiency..0.62340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4745356684642123317AC307228Likely_benignCone/cone-rod_dystrophy.0.690960.667730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4746356736642162388AG307298Likely_benignRetinitis_Pigmentosa,_Dominant0.513840.637470.584861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4747501953642162575AG493377Benignnot_specified0.860530.850380.878991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4748356749642664658GA302880Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.75140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4749356750642664676GA307353Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.754390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4750356756642665032GT307355Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.214460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4751356759642665135GT302916Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.214460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4752356762642665271GA300161Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.754390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4753356764642665490CT302934Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop.....0.754590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4754356765642665548TTAA307361Uncertain_significancePigmentary_retinal_dystrophy|Choroidal_Dystrop......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4755138906642666061TC142609Benign/Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop...0.77680.778980.757390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4756138905642666145CT142608Benign/Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop...0.930720.911680.941291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4757138904642666164GC142607Benign/Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop...0.77680.77740.756591/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4758255827642666293GA252355Benignnot_specified0.232820.219140.212060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
475992846642689755AG98753Benign/Likely_benignPigmentary_retinal_dystrophy|Choroidal_Dystrop...0.60680.577470.584470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4760356786642931627GTTTAG300174BenignPEX6_POLYMORPHISM|Peroxisome_biogenesis_disord......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
476192781642934500CT98688Benignnot_specified|not_provided0.59780.491020.493810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4762559074642934620CT549606Benignnot_provided0.59780.491040.494010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4763559075642935998GA549607Benignnot_provided0.599120.490450.49760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
476492791642942779AG98698BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.376670.377630.289740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
476592789642946490CA98696BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.375410.449350.331870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4766356808642946943GA300204BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|.....0.333870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4767260435643014298TTCC252368Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
476812223643738350CG27262risk_factorMicrovascular_complications_of_diabetes_1..0.673921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4769162168643826627CT171881not_providednot_provided..0.673921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4770357026644266648CCTT307681BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4771357032644266925TC307832BenignCombined_oxidative_phosphorylation_deficiency..0.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4772357033644266984GA300337BenignCombined_oxidative_phosphorylation_deficiency..0.206471/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4773357035644266999CTC300339BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4774357043644267650TTAGGGCACCCATACC307865BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4775357044644267728AATTTAT307869BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4776357045644267861CT307686BenignCombined_oxidative_phosphorylation_deficiency..0.867611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4777357048644267918AG303155BenignCombined_oxidative_phosphorylation_deficiency..0.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4778357050644267943CT307870BenignCombined_oxidative_phosphorylation_deficiency..0.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4779357055644268371TC303162BenignCombined_oxidative_phosphorylation_deficiency|...0.871140.94260.869411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4780357059644269193CT300361BenignCombined_oxidative_phosphorylation_deficiency_...0.678990.70150.582670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4781682696644269640GA661779Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4782682694644271661GA662242Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4783672773644273702CA661782Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4784682693644274451GA662137Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4785669454644280281TC662150Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4786506168645870999CAGC496577Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4787508561646047458CT496472Benignnot_specified.0.234550.196290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4788508092646047640TC496912Benignnot_specified|not_provided0.044460.046630.036141|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4789508560646048000TC502010Benignnot_specified.0.24980.221250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
47907916646672943AG22955risk_factorAsthma_and_atopy,_susceptibility_to|not_provided.0.803340.81030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
479156163646684222CT70802not_providednot_provided0.266490.303260.317490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4792357156647445784CT307805Uncertain_significanceFocal_segmental_glomerulosclerosis...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4793357157647445789AC300455BenignFocal_segmental_glomerulosclerosis..0.606230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4794357162647445927TA307991BenignFocal_segmental_glomerulosclerosis0.96713.0.952680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4795260181647563692CT252387BenignFocal_segmental_glomerulosclerosis|Focal_segme...0.97570.994150.983031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4796260183647567017GA252388Benignnot_specified0.030990.01160.040540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4797357183647592328GTG300480BenignFocal_segmental_glomerulosclerosis...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4798357222647594002TC308038BenignFocal_segmental_glomerulosclerosis..0.530350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4799357225647594183AAT307895BenignFocal_segmental_glomerulosclerosis...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4800357228647594302TC300504BenignFocal_segmental_glomerulosclerosis..0.941090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4801357235649398115CT300512BenignMethylmalonic_acidemia..0.329271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4802357290650811241TA303422BenignChar_syndrome..0.863221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4803357303650812015AACA308011Conflicting_interpretations_of_pathogenicityChar_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4804357319650812906GA308018BenignChar_syndrome..0.736021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4805357329650813332TC308129BenignChar_syndrome..0.93931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4806357358651480486GT308144BenignAutosomal_recessive_polycystic_kidney_disease..0.68670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4807357362651480853TC308048BenignAutosomal_recessive_polycystic_kidney_disease..0.754790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4808357368651481315TC308051BenignAutosomal_recessive_polycystic_kidney_disease..0.883391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4809357398651483505AG308176BenignAutosomal_recessive_polycystic_kidney_disease..0.996811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481096376651483961TC102270BenignAutosomal_recessive_polycystic_kidney_disease|...0.525830.562970.565690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481196372651491884TC102266BenignAutosomal_recessive_polycystic_kidney_disease|...0.523610.555040.553320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481296441651613177CT102335BenignAutosomal_recessive_polycystic_kidney_disease|...0.274030.404140.385980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481396438651618170TG102332Benignnot_specified.0.741630.859430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4814262421651640751CG252407Benignnot_specified0.301060.433750.400160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481596429651695647AT102323BenignAutosomal_recessive_polycystic_kidney_disease|...0.493620.386110.367610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481696423651720838TC102317BenignAutosomal_recessive_polycystic_kidney_disease|...0.354610.43390.538940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481796422651720872AG102316BenignAutosomal_recessive_polycystic_kidney_disease|...0.345460.434170.539740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4818262412651732628GA252416Benignnot_specified0.354530.434520.538740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
481996421651732807CT102315BenignAutosomal_recessive_polycystic_kidney_disease|...0.53545.0.367610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4820262411651735261GT252417Benignnot_specified0.35338.0.537740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4821262406651799166TC252422Benignnot_specified0.679840.70150.774360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482296410651875250AC102304BenignAutosomal_recessive_polycystic_kidney_disease|...0.953870.987190.955871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482396399651890823GA102293BenignAutosomal_recessive_polycystic_kidney_disease|...0.392360.469760.354630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4824262399651891011TC252426Benignnot_specified0.45392.0.411940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4825262396651913240GA252429Benignnot_specified0.388740.464950.355630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482696386651914956GA102280BenignAutosomal_recessive_polycystic_kidney_disease|...0.388670.465210.355830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482796374651924774AG102268BenignAutosomal_recessive_polycystic_kidney_disease|...0.959170.98830.958271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482896407651938242AG102301Benignnot_specified0.272110.276630.329870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
482996388651947237GA102282Benign/Likely_benignAutosomal_recessive_polycystic_kidney_disease|...0.295710.284410.354430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4830128968652303291CT134415Benign/Likely_benignJuvenile_myoclonic_epilepsy|not_specified0.10034.0.068890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
48312063652303361GA17102BenignMyoclonic_epilepsy,_juvenile_1|Juvenile_myoclo....0.060510.044331|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4832357489652357260CA300714BenignJuvenile_myoclonic_epilepsy.0.894670.899960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4833357498652358020AT308225Likely_benignJuvenile_myoclonic_epilepsy.0.901950.933110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4834357512652358319GA300722BenignJuvenile_myoclonic_epilepsy.0.894490.899960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4835357517652358887TTCA308241BenignJuvenile_myoclonic_epilepsy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4836357523652359558AG303678Likely_benignJuvenile_myoclonic_epilepsy.0.186410.129990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4837357527652360283TA308245Likely_benignJuvenile_myoclonic_epilepsy.0.654630.699080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4838357529652360545TC300752Likely_benignJuvenile_myoclonic_epilepsy.0.449150.279350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4839218139653134104CCACAG214787not_providednot_provided0.602330.503520.598040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4840439753653410037GA433587Benignnot_specified..0.069090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4841768101655142261GA699626Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4842795681656351973GA787557Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4843518378656426931CT508818BenignNeuropathy,_hereditary_sensory_and_autonomic,_...0.385940.406050.335260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4844518379656463410TC508819BenignNeuropathy,_hereditary_sensory_and_autonomic,_...0.381050.356210.328280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4845357539656480052TTAA308257BenignNeuropathy,_hereditary_sensory_and_autonomic,_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4846357558656482801CG303702BenignNeuropathy,_hereditary_sensory_and_autonomic,_...0.469250.388660.401760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4847357579656484758CT300790BenignNeuropathy,_hereditary_sensory_and_autonomic,_...0.423040.360960.336460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4848357616656505081GC308408Conflicting_interpretations_of_pathogenicityNeuropathy,_hereditary_sensory_and_autonomic,_...0.001770.00330.0030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
484993620664694354CT99524Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti...0.361150.363240.349640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4850196616665016977TGAT193777BenignRetinitis_pigmentosa_25|not_specified|Retiniti......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4851137256665149185TA140959Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti....0.286380.291331|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4852195937665300250CG193098Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa|Retinitis_pigmentosa_25|n...0.002410.004860.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
485393611665301504AG99515BenignRetinitis_pigmentosa_25|not_specified|Retiniti...0.774420.746970.781550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4854137272665612302AG140975Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa_25|not_specified|Retiniti...0.021460.035870.016170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
485593605665622463AG99509BenignRetinitis_pigmentosa_25|not_specified|Retiniti...0.667110.610680.646370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4856137268666005857TA140971Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Recessive0.170830.161520.104230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4857137263666063513GA140966Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti...0.681460.674630.651160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4858137262666112409AG140965Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti...0.528210.516490.505991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4859137261666204945GA140964Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|Retiniti...0.16062.0.170331|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4860137260666204970CT140963Benign/Likely_benignRetinitis_pigmentosa_25|not_specified|not_prov...0.00408.0.008590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4861357765670385709GA303862BenignDisorders_of_Intracellular_Cobalamin_Metabolism..0.645970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4862357791670926334AG308545BenignMultiple_Epiphyseal_Dysplasia,_Dominant|Stickl.....0.395770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4863258357670944465AG252455Benignnot_specified0.384820.381340.218650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4864677932670961745AG662196Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4865258353670961833TC252459BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.391510.375260.326680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4866258351670962039CT252460Benignnot_specified|not_provided0.18868.0.173320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4867258352670962044AG252461Benignnot_specified0.500230.448450.403360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4868677930670962219GA662260Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4869258350670963156TG252462Benignnot_specified0.43688.0.369210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4870258344670965125AC252467Benignnot_specified0.83723.0.87520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4871683421670966173AG661848Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4872683417670966794GA662291Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4873677940670970501AG661850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4874677939670972708TC661854Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4875678734670973152AC662262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4876677938670973200AT662200Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4877677937670976303AT662306Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4878677936670976661TG661862Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4879677935670978397TC661876Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4880260500672889472AG252483Benignnot_specified|Cone-Rod_Dystrophy,_Dominant|not...0.69112.0.75181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
488195655672892257AG101552Benignnot_specified|Cone-Rod_Dystrophy,_Dominant|not...0.974350.992270.974641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4882677182672945492CT662301Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4883677183672968609CT662302Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4884260498673102442CT252489Benignnot_specified|Cone-Rod_Dystrophy,_Dominant|not...0.213490.212420.158750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4885357862673102522ATA308639BenignCone-Rod_Dystrophy,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4886357878673111454AG303974BenignCone-Rod_Dystrophy,_Dominant..0.443291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4887357879673111492AG303981Likely_benignCone-Rod_Dystrophy,_Dominant..0.112020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4888357882673111857TTA303985BenignCone-Rod_Dystrophy,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4889357890673112380CA301012Likely_benignCone-Rod_Dystrophy,_Dominant..0.120010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4890138273674189574GA141976Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4891138274674190448TC141977Benignnot_specified|not_provided0.206210.187130.208070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4892678137674191545GA662304Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4893671625674192422TG662307Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4894682640674201676AT662350Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4895671626674202160AC662272Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4896678514674202273TC662356Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4897357907674303829CT308706BenignSalla_disease..0.300920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4898357917674304415GC308717BenignSalla_disease..0.172520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4899357919674304607TC301029Likely_benignSalla_disease..0.068290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4900672112674309812CT661914Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4901672111674320391TA662283Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4902672110674324806GA662325Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4903672021674324901TC661917Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4904672109674325257TC662327Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4905672093674325403CT662329Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4906357925674348142TC301037BenignSalla_disease|not_provided0.045130.079390.06550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4907558969674351669AG549614Benignnot_provided0.04490.078370.06550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4908259341675841722AT252506Benignnot_specified0.882260.883350.886181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4909259338675844458CT252509Benignnot_specified|not_provided0.009750.00730.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
491045147676596728CT54314Benignnot_specified|not_provided0.241270.251170.147761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
491145130676624741CT54297Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.240970.287820.146971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4912358027676626756TC308845Likely_benignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.318891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4913358034676627600GTG301090BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4914358049676628564CT304111BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.550520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4915358056676628843TA301102BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.777160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4916358085680196498TC308889Likely_benignLeber_congenital_amaurosis..0.56470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4917167255680196848CT177374Benign/Likely_benignLeber_congenital_amaurosis|Leber_congenital_am...0.378420.316710.355230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4918167258680228541AG177112BenignLeber_congenital_amaurosis|Leber_congenital_am...0.8370.834590.890580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4919358109680228673TC308913BenignLeber_congenital_amaurosis..0.890380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4920358150680657086CG301166Likely_benignStargardt_Disease,_Dominant..0.087260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4921683382680837058AG662388Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
492296573680837239AG102466Benignnot_specified0.323010.443780.387781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
492396572680837253GT102465BenignMaple_syrup_urine_disease|not_specified..0.518371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4924683389680881289CG662411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
492596613680912746CT102506Benignnot_specified..0.696291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4926683390680913216AG662414Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4927683392681053107GA662417Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4928683394681053217GT662386Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4929358174681053642GA304288BenignMaple_syrup_urine_disease..0.715061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4930358176681053814TC304289BenignMaple_syrup_urine_disease..0.715461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4931358177681053825GA304303BenignMaple_syrup_urine_disease..0.715861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4932358178681053866CT301182BenignMaple_syrup_urine_disease..0.589861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4933358179681053916GT309048BenignMaple_syrup_urine_disease..0.958471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4934358185681054148TC309049BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4935358188681054252CT301194BenignMaple_syrup_urine_disease..0.399761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4936358190681054310CT309050BenignMaple_syrup_urine_disease..0.715461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4937358191681054326TC309058BenignMaple_syrup_urine_disease..0.715461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4938358196681054515GA304336BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4939358198681054663CG301200BenignMaple_syrup_urine_disease..0.68871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4940358202681054762AG301205BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4941358204681054965TC301207BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4942358206681055299AG309086BenignMaple_syrup_urine_disease..0.714861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4943358208681055331TC309088BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4944358209681055396GA309090BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4945358210681055413TC304346BenignMaple_syrup_urine_disease..0.715261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4946358212681055792GA304347BenignMaple_syrup_urine_disease..0.715861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4947358213681055803CT304349BenignMaple_syrup_urine_disease..0.715661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4948681218683880167CT655752Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4949672119683881740TC655753Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4950802247685473758CT790663BenignMulticystic_renal_dysplasia,_bilateral...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
495195391688182704GC101290BenignCongenital_disorder_of_glycosylation|not_speci...0.67411.0.645970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49524843688218600CCCACT19882risk_factorCONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIf......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4953358221688221546AG304359BenignCongenital_disorder_of_glycosylation|Pontoneoc.....0.639180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4954358228688221892TG301220BenignCongenital_disorder_of_glycosylation|Pontoneoc.....0.638580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4955671612688226641AG662427Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4956683650688244648CT662396Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4957683649688244770TTTCTTA662019Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4958671595688255438TC662404Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4959358264697338598AT304408BenignMitochondrial_complex_I_deficiency..0.934111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4960358266697338648TA309128Likely_benignMitochondrial_complex_I_deficiency..0.291331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4961129692697339088CT135138BenignMitochondrial_complex_I_deficiency|not_specifi...0.892170.894420.933911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4962358272697339275CCA309036Benign/Likely_benignMitochondrial_complex_I_deficiency|not_specifi......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4963677882697345054GC662440Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4964681227697345233GA662041Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49653546706100837889TA305273BenignSchaaf-yang_syndrome..0.398760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49663546726100838124TA305275Likely_benignSchaaf-yang_syndrome..0.012181|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49674180196101215223TAT406785Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49681291696102247673TC134615Likely_benignnot_specified0.23920.25370.415140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49693547616107475278TTA305215Likely_benignCoenzyme_Q10_deficiency,_primary...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49706834536107533160TG661460Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49716834526107655119AG661389Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49726741006107781028GA661498Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49731303616107956095AG135808Benignnot_specified.0.988780.979631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49743548126108189328CT298570BenignPolycystic_liver_disease_1..0.929511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49753548136108189333TTGTC305479BenignPolycystic_liver_disease_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49763548216108189427TAT305322BenignPolycystic_liver_disease_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49773548256108189477TG298582BenignPolycystic_liver_disease_1..0.928711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49783548266108189515GA305329BenignPolycystic_liver_disease_1..0.924521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49793548426108190246CT300935BenignPolycystic_liver_disease_1..0.862621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49803548596108190976GTTTTTTG,GT305401BenignPolycystic_liver_disease_1...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
49813548616108191007TC305408BenignPolycystic_liver_disease_1..0.755791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49823548636108191114AAAACA300960BenignPolycystic_liver_disease_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49833548656108191203CT305512BenignPolycystic_liver_disease_1..0.969051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49843548686108191382AG305515BenignPolycystic_liver_disease_1..0.862421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49853548716108191510TG305516BenignPolycystic_liver_disease_1..0.863021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49863548886108192785AT305541BenignPolycystic_liver_disease_1..0.862821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
4987954746108233929GA101373BenignPolycystic_liver_disease_1|not_specified0.875370.858880.855031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49883549216108279290GA305591BenignPolycystic_liver_disease_1..0.925721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49893549466108363688TC305473BenignOsteopetrosis..0.344051|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49903549546108364106AG301056BenignOsteopetrosis..0.344050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49913549616108364582TC305520BenignOsteopetrosis..0.218450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49923549696108364951TC301078BenignOsteopetrosis..0.218850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49933549766108365658TC305637BenignOsteopetrosis..0.476440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49947817556108985057GA710103Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49952203326110012714CT221621Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.003170.008110.00160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49966681456110038102GA661063Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49976734406110048165CT661506Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49986734416110053721TG661070Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
49996949806110053824GGT683117Uncertain_significanceCharcot-Marie-Tooth_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50002604516110059510CA252050Benignnot_specified0.319060.38440.338060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50016681466110059954GA661491Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50026801796110062873TG661500Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50036816686110085366GT661393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50046801816110085423TC661395Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50052604476110106234AG252054BenignCharcot-Marie-Tooth_disease,_type_4J|Amyotroph...0.51423.0.358830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50066705276110107197GA661436Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50076801846110110554AC661442Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50086705286110110943GT661078Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50092604496110146303GA252056BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.321470.428870.395770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50103550526110146588CT298744BenignCharcot-Marie-Tooth_disease_type_4|Amyotrophic.....0.448280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50114035656111901453GT389644Benignnot_specified0.839540.853610.931710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50123550546112375307AG298749BenignProgressive_pseudorheumatoid_dysplasia..0.238620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50133550606112382313GT301225BenignProgressive_pseudorheumatoid_dysplasia0.336150.260620.298920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50146727456112430886TC661518Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5015444056112435264TG53572BenignDilated_cardiomyopathy_1JJ|not_specified0.257190.239290.240020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5016444066112435273AC53573BenignDilated_cardiomyopathy_1JJ|not_specified0.25811.0.240020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50176727446112435444GGAAT661450Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50186727436112435682GA661503Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50196727426112435796GC661082Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50206730486112435807GT661084Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5021444016112435912AT53568BenignDilated_cardiomyopathy_1JJ|not_specified0.304940.267130.281750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50226785246112436198GT661530Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50236785056112436821GA661514Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50246711216112443134GA661521Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50256711206112450351GC661527Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50266711196112450520TC661477Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50276835906112456123CAGGTC661535Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50286727086112457145AT661483Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50296727076112457156TC661550Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5030443776112457383GC53544BenignDilated_cardiomyopathy_1JJ|not_specified0.22205.0.210461/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5031443766112457390CT53543BenignDilated_cardiomyopathy_1JJ|not_specified0.751350.769150.839861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5032443756112457471GA53542BenignDilated_cardiomyopathy_1JJ|not_specified0.752730.769370.840461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50336711186112460541GA661488Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50346730476112462882GA661543Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50356779866112463076TC661107Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50366730446112469179TC661561Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50376711176112471688GC661590Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50386730426112472005AG661591Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50396711166112476210TC661501Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50406785006112477139GC661128Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5041443486112493872AG53515BenignDilated_cardiomyopathy_1JJ|not_specified0.648780.664920.758390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50426784996112499656GT661618Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50436730106112506375GA661620Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50446711156112506583GT661508Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50451779766112508769TGGT178204Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50466727026112537497AG661646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50473550886116441222AGA301242Likely_benignMetaphyseal_chondrodysplasia.0.026420.003991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50482562596116441229TTGGG252058BenignMetaphyseal_chondrodysplasia|Metaphyseal_chond......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50492562606116441646CG252060BenignMetaphyseal_chondrodysplasia|Metaphyseal_chond...0.16093.0.213661|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50501621656116443735TA171878not_providednot_provided..0.445491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50512562626116446576AG252061BenignMetaphyseal_chondrodysplasia|Metaphyseal_chond...0.497310.380460.445491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50526834696116720129TA661630Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50533846846116720487CT368304Benignnot_specified0.260650.224320.136580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50546785826116754277GA661182Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50556781116116754456GT661187Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50561650616116950833TC174342BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.698830.646980.710060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50571650626116951678AC174480Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.111260.090060.135380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50582570506116951761CG252066Benignnot_specified0.054820.064480.067890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50593551306116954040AC305786Likely_benignPrimary_ciliary_dyskinesia..0.090460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50607696916117113765TTTCC699269Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50614033286118869423AC389721Benignnot_specified..0.018970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50623551416118880640TG298827Likely_benignHypertrophic_cardiomyopathy|Dilated_Cardiomyop.....0.394370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50633551766121769905AAT301331BenignSyndactyly|Oculodentodigital_dysplasia|Hypopla......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50643551916123537837AG298869BenignCatecholaminergic_polymorphic_ventricular_tach.....0.484030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50653552066123539609CT301350BenignCatecholaminergic_polymorphic_ventricular_tach.....0.37580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50663552096123539731GA301354Uncertain_significanceCatecholaminergic_polymorphic_ventricular_tach...0.000670.00044.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50672599156123539904CT252068Benignnot_specified0.421240.425350.3760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50686748266123580660CT661633Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50696748256123589106CT661570Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50702271146123594510TTA229391Benign/Likely_benignCatecholaminergic_polymorphic_ventricular_tach......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50716808156123637909CT661681Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50726748186123658680AG661638Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50732271116123658825GT229396BenignCatecholaminergic_polymorphic_ventricular_tach...0.123490.27490.293730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50746748166123673455GT661686Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50752271106123687288AC229399BenignCatecholaminergic_polymorphic_ventricular_tach...0.92551.0.93931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50766748146123687432TC661647Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50776808326123698544GA661218Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50782271066123699042TC229404Benign/Likely_benignCatecholaminergic_polymorphic_ventricular_tach...0.354420.342310.272171|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50792599146123702499GA252069Benignnot_specified0.303450.473530.476240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50806780386123818095GA661596Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50816747936123818580AG661599Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50826781596123818628GC661226Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50836808136123825367TC661232Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50842271236123833457GC229411BenignCatecholaminergic_polymorphic_ventricular_tach...0.842450.825880.843251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50856808116123837617AG661236Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50866748236123850194GA661691Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50876808126123850730AG661655Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50886748216123851447TA661657Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50896748176123851538GC661248Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50906748156123851590GA661693Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50916748136123851610GA661697Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50926747966123851865AT661699Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50936748696123868288AG661701Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50946748676123869459AG661640Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50953552256123869769TAAAT298899Uncertain_significanceCatecholaminergic_polymorphic_ventricular_tach......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50966747916123869906GT661711Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50976747906123891882GA661671Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50986748446123892337GA661716Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
50996840206129371533GA661722Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5100929556129381026CA98862BenignMerosin_deficient_congenital_muscular_dystroph...0.947330.957840.93671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51012560796129465020GA252071Benignnot_specified|not_provided0.254540.214580.24740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51026829046129465422GA661723Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51036829076129468288AT661658Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51046689106129469813CA661266Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51056829156129486913TC661659Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51066829176129498736AC661682Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5107929436129571330GA98850BenignMerosin_deficient_congenital_muscular_dystroph...0.269720.182760.270970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51086829036129571488AT661268Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51096714356129591515CT661685Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51106829066129600962GA661684Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51116829096129612563GT661692Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51126829116129612624CT661284Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5113929496129612808AG98856BenignMerosin_deficient_congenital_muscular_dystroph...0.258420.26830.31390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51142560636129619059GA252086Benignnot_specified|not_provided0.08420.134580.182510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51156829136129619150GA661729Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51166829146129621725AG661698Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51172560666129633970TTGT252088Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5118929516129634255GA98858BenignMerosin_deficient_congenital_muscular_dystroph...0.227740.2190.355231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51196829216129634426GA661702Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5120929526129635800GA98859Benign/Likely_benignMerosin_deficient_congenital_muscular_dystroph...0.091110.068730.120010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51216714526129641374TC661700Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51226829246129641510GC661703Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51231966606129670493CT193821Conflicting_interpretations_of_pathogenicityMerosin_deficient_congenital_muscular_dystroph...0.0030.003340.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51246829206129704589CT661740Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51252186576131948816TTA215327Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51263553476132203470ATA299023BenignArterial_calcification,_generalized,_of_infanc......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5127135906132212694AG28629BenignObesity|Arterial_calcification,_generalized,_o.....0.554710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51283553776132212742AC299056BenignArterial_calcification,_generalized,_of_infanc.....0.412740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51293553816132212808CT301463BenignArterial_calcification,_generalized,_of_infanc.....0.553710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51303553986132213623GC301470BenignArterial_calcification,_generalized,_of_infanc.....0.647560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51313554246132215375CT299088BenignArterial_calcification,_generalized,_of_infanc.....0.567490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5132447736133789728GA53940Benign/Likely_benignnot_specified|Cardiovascular_phenotype|Dilated...0.382980.341690.409550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51336763386133802542GA661797Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51343554486133849966CT299116Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_...0.332690.434320.471050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51353554536133851207TA299121Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51363554556133851377AG299127Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_.....0.834671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51373554676133852245GA305907Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_.....0.011980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51383554776133852957TC306198Likely_benignDilated_Cardiomyopathy,_Dominant|Nonsyndromic_.....0.028550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51391328716135426573AG136620Likely_pathogenicFetal_hemoglobin_quantitative_trait_locus_2..0.175320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5140957576135639644CT101654BenignJoubert_syndrome|Joubert_syndrome_3|not_specified0.583130.628640.594851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51411283266135716008TC133775Benign/Likely_benignJoubert_syndrome|not_specified|not_provided0.018580.026520.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51422608396135763866GA252135BenignJoubert_syndrome|Joubert_syndrome_3|not_specified0.820280.910610.822881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51436679616135778371AG661803Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51441666646135787184CT177234Benign/Likely_benignnot_specified|not_provided0.002390.003980.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51456739606135813251GT661813Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51464024206136582497GT389734Benignnot_specified.0.49764.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51478022746137166682GA790592BenignRhizomelic_chondrodysplasia_punctata_type_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51484029736137325901TAATA,T389720Benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
51491339906139197609GA137729not_providednot_specified0.266910.287640.276160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51508022786142718801GA790596BenignLethal_congenital_contracture_syndrome_9...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51518022796142758631AG790597BenignLethal_congenital_contracture_syndrome_9...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51522591056143784031ATA252147Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51531674586143792078CG177938Benignnot_specified|not_provided0.309930.272570.323680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51542591086143806276AG252150BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.487160.442840.570890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51553555856143810909AG306045Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.128990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51563556596144512671TTA306156BenignFamilial_hemophagocytic_lymphohistiocytosis...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51576707326146007166GA661845Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5158953066146056476GC101205BenignSeizures|Lafora_disease|not_specified|not_prov...0.69556.0.653360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51596707316146056801GA655716Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51606707306146056848TC655717Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51616681326146057289CT661806Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
516220626149721690GA17101risk_factorDiabetes_mellitus,_insulin-dependent,_5.0.555080.645970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51633556746150710632AG306195Conflicting_interpretations_of_pathogenicityCongenital_hypothyroidism|not_provided0.009610.003210.009380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51642575846150716696TC252155BenignIodotyrosine_deiodination_defect|not_specified0.920940.861470.872011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51653556896150719710CT306479Likely_benignCongenital_hypothyroidism..0.332870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51663557076150720439CT306245BenignCongenital_hypothyroidism..0.87681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51673557106150720571TG299312BenignCongenital_hypothyroidism..0.800721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51683557146150720908TC299319BenignCongenital_hypothyroidism..0.632791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51693557156150720920GA306246Uncertain_significanceCongenital_hypothyroidism..0.010981/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51703557316150721445AG306512Likely_benignCongenital_hypothyroidism..0.294331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51713557346150721724CAC306278Likely_benignCongenital_hypothyroidism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51723557386150721850GA306280Uncertain_significanceCongenital_hypothyroidism..0.020571/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51733557406150721882CT306538Likely_benignCongenital_hypothyroidism..0.292131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51743557426150722144AG306289Uncertain_significanceCongenital_hypothyroidism..0.020570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51753557556150723028GA306542Likely_benignCongenital_hypothyroidism..0.090661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51763557586150723368AC306545BenignCongenital_hypothyroidism..0.797721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51773557596150723408GA299355Likely_benignCongenital_hypothyroidism..0.091251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51783557606150723616AG299359Likely_benignCongenital_hypothyroidism..0.291731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51793557616150723668GA299361Likely_benignCongenital_hypothyroidism..0.291731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51803557646150723812TC301822Likely_benignCongenital_hypothyroidism..0.291731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51813557666150724047AACTGGGGGTGATTCAC301834BenignCongenital_hypothyroidism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51823557676150724064AC299366Likely_benignCongenital_hypothyroidism..0.37721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51833557706150724563GA306570Uncertain_significanceCongenital_hypothyroidism..0.021571|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51843557726150724706CA299376Likely_benignCongenital_hypothyroidism..0.111221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51853557806150725086TAT301838Likely_benignCongenital_hypothyroidism...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51863557936152442821CA306600BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst.....0.195890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51873557946152442903CTC306312Uncertain_significanceCerebellar_ataxia|Emery-Dreifuss_muscular_dyst......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51883558036152443389CT299385BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst.....0.195890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51891304336152453291GA135879BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.054440.051330.025760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51902621946152461048CTGTTC252156Benignnot_specified|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51912621936152461061GA252157Benignnot_specified|not_provided0.439260.402280.444490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51921943056152469329GC191468Benign/Likely_benignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.000380.0006.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51936702126152476952GC661868Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51946702116152522812TG661430Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51956702106152523143GA661874Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51966702096152534946TA661827Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51976702066152536374TA661898Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51986702056152539181CT661891Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
51996839736152539857TC661895Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52001304196152540278AC135865Benign/Likely_benignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.993080.992280.995611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52016702016152542868GT661922Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52026702006152546740GA661927Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52036701996152547151TC661468Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52046701986152552375GA661833Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52052621786152555112CT252170BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.168770.237450.208871|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52066839716152556258TC661469Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52072621776152558111TTA252171Benign/Likely_benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52086701966152560478CA661841Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52096701956152560916GA661843Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52106701926152561045CT661478Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52116701916152565897TC661930Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52126839536152566105AG661847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52132621766152570415GA252172Benignnot_specified0.623890.65780.680711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52146701906152576591AG661920Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52156701886152590617TG661485Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52166727546152602726GA661925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52176839656152604821AG661950Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52186839626152604844AG661938Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52196727536152615042GT661941Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52206701876152622876TA661860Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52212621726152629586GA252176Benignnot_specified|not_provided0.461560.500110.457471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52226701856152629815CT661954Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52236701846152638209AG661489Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52246701836152638239TC661965Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52256839506152638412AG661969Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52266839526152646693TC661499Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52271304086152647681AT135855BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.810470.779740.81471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52281304046152652034AT135851BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.795860.775970.803321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52292621606152653037TC252183BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.48630.460790.413140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52301303996152658142TC135846BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.788180.754680.793131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52312621586152658191TC252186Benignnot_specified|not_provided0.800630.758420.790141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52326701776152658216AG661865Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52336701736152660310AG661510Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52341303986152660451GA135845Benign/Likely_benignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.116180.11420.073280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52356839496152660837GT661984Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52361303976152665261CA135844BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.567280.576150.545531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52376839476152665628CT661988Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52386839456152667931TA661875Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52396839436152668628CG661890Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52402630756152671475AC252188BenignSpinocerebellar_ataxia,_autosomal_recessive_8|...0.596190.584620.587461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52416701716152671553AG661897Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52423558856152671919GGA306415BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52436701706152671975AG661991Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52446701696152672031TC661953Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52456701686152672073TC661522Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52466701676152673043GA661955Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52472621546152673147GA252189BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.578270.5790.56591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52482621536152673519AC252190Benignnot_specified|not_provided0.5796.0.567491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52496839396152674089TG661901Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52506839386152674132TC661904Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52516701656152675054TC661957Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52526839356152675137CT661995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52531303936152675854AG135840BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.581190.579940.568291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52546701626152683108AG661528Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52556701616152683183GT661916Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52566701606152683199GA661919Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52571303886152683413GT135835BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.648090.654120.659151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52582622066152688567CT252193Benignnot_specified|not_provided0.932260.873770.863621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52592622046152690559GA252195Benignnot_specified|not_provided0.462790.48180.410941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52601304536152694184TC135899BenignCerebellar_ataxia|Emery-Dreifuss_muscular_dyst...0.52883.0.468251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52616839346152702821GA661979Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52626839286152712133CA661929Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52636701536152770435TC661603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52642621646152793412CA252207Benignnot_specified|not_provided0.783020.765730.855230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52656701516152826627CT662098Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52666838946152949109AG662107Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52676701506152949230TG661628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52687741866153077332CT699401Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
526995386154360797AG24577drug_responseDrugs_used_in_opioid_dependence_response_-_Dos...0.096970.18560.223440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52706716156158536116AT661629Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52716807816158539828AG662009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52726807786158541175GA662011Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52733877716158549156AG370286Likely_benignnot_specified.2e-05.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52746717026158568161GA661635Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52756807796158569686GA662130Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52761390946158569886TC142797Benignnot_specified0.413410.470850.400560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52776717406158570024AAT661642Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52781390936158571501GA142796Benignnot_specified|not_provided0.705140.717350.713861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52796716146158571655GC662145Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52806761936158571706GC661650Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5281147516160113872AG29790drug_responseSUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascu....0.502390.410740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52824034486160560897CTGGTAAGTC389722Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52836922026161152240GA679944BenignOtitis_media,_susceptibility_to...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52843559986161769835TC302100Likely_benignParkinson_Disease,_Juvenile..0.057710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52853560066161770479GA299579Likely_benignParkinson_Disease,_Juvenile..0.098440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52862594336162622304AG252218Benignnot_specified0.940340.932920.950480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
528781816166574246GA23220risk_factorNeural_tube_defects,_susceptibility_to..0.797320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52886695036166796665CT662016Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52896826256166796720TC662113Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52906826246166796832CG662127Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52913560276167343141GA302139Benign/Likely_benignLeukoencephalopathy,_cystic,_without_megalence...0.08781.0.075480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52923560326167344583AG302143BenignLeukoencephalopathy,_cystic,_without_megalence...0.239970.173090.184510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52933560386167369650GA299616Likely_benignLeukoencephalopathy,_cystic,_without_megalence...0.052420.040120.023160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5294127136169635010GA27752risk_factorLumbar_disc_herniation,_susceptibility_to0.300980.368430.355631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52957681236169972627GA699457Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52963807866170162515AC368809Benignnot_specified0.212590.15030.207070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52976681346170179698TC662154Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52981305616170878793TC136007Likely_benignnot_specified0.553590.531910.614621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
52991937307299850GT190893Benignnot_specified0.518180.473530.531150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53001937317299881AG190894Benignnot_specified0.50679.0.525360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53012609397780980TG252915Benignnot_specified0.791830.83850.758991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53022609227794471AG252920Benignnot_specified0.838720.833340.826681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53032609307810219TC252936Benignnot_specified0.431950.430430.391371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53042609327814788GA252938Benignnot_specified0.626940.621090.668731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530579206771786120GA710923Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530659128672552881AAGATG582279Uncertain_significancenot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530725727172566028GA252779Benignnot_specified0.043710.040390.019970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530825727272566433GA252780Benignnot_specified0.06140.067130.035140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
530958549072577781TC576963Benignnot_provided0.438030.389480.461460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531044689672578237TCCT441075Benignnot_specified|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531158549272583328CT576970Benignnot_provided0.151340.178490.096250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531240247772946461TC389742Benignnot_specified0.546590.516310.596450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531340247972962753GA389781Benignnot_specified0.634640.679510.505391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531440248072969680GA389794Benignnot_specified0.171460.187910.102040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531540248172976767GA389822Benignnot_specified0.14847.0.090660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531674298074801861CT750665Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531777829475396916GA777862Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
531813506576026775TC138804BenignHereditary_nonpolyposis_colorectal_cancer_type...0.870390.851390.883191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53194170376026865TC50142BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.02076.0.010980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
532059592076035021CA586981Benignnot_specified..0.149160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53219137176035507CT96846BenignLynch_syndrome..0.151760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53223669376036980GC45354BenignHereditary_cancer-predisposing_syndrome|Lynch_...0.82377.0.831271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53239128076048804GC96755BenignLynch_syndrome..0.156150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
53249128476048973CA96759BenignLynch_syndrome0.24150.221180.232030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5325682708710978789AT662146Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5326682704710979396AG662578Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5327359485716127297GT302341BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.333670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5328359491716127845GA302352Uncertain_significanceCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.011980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5329359547716129172AG305641BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly....0.994740.996411|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5330359556716129643TC310607BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.81210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5331359566716130332CA302392BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.829871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5332359582716131260CT310459BenignCongenital_Muscular_Dystrophy,_alpha-dystrogly.....0.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5333257460716131286GC252661Benign/Likely_benignnot_specified|Congenital_Muscular_Dystrophy,_a...0.0403.0.023361/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5334682001716255602AT662925Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5335682000716298434TC662835Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5336681997716298438TG662363Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5337681995716298766AAT662840Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5338683645716347827AT662364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5339681994716348059TC662850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5340681979716461092TC662379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5341403464717854575GGAA390597Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5342402927718767343AG389811Benignnot_specified0.235070.311740.329870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5343402925718993870CT389817Benignnot_specified0.768750.767920.773561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5344178721721582917CT174188Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.083470.091560.06130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
534593682721582963GATT99585Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
534693693721599233CT99596BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.45360.468310.542930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5347163097721628237CT174192BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.990130.990430.990621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
534893684721630982AG99587BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.43460.434780.530350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5349178725721640361TC174059Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.351930.352920.220450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5350163100721640405AG174194BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.815290.788670.767771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5351163102721641218GA174195BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.800670.784680.753791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
535293687721658855AG99590BenignPrimary_ciliary_dyskinesia|not_specified0.512610.488950.56190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
535393688721659554AATTAAT99591Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
535493690721659645TC99593BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.398610.395880.423320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
535593692721723573AT99595Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified0.226290.213130.226840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5356163110721775443GA174201BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.8575.0.755390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5357163112721778449CT174202BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.664760.640860.539540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5358163113721779278AG174068BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.531380.53410.37280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5359163121721893993GT174075BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.598990.570470.459470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5360163126721901566TC174212BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.757710.725540.634391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5361178735721924014AG174079BenignPrimary_ciliary_dyskinesia|not_specified|not_p...0.71675.0.62241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5362178739721939032CA174216Benign/Likely_benignPrimary_ciliary_dyskinesia|not_specified|not_p...0.25408.0.193491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5363695364721940815CT683887Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5364359702721940960AG310581Likely_benignPrimary_ciliary_dyskinesia..0.215461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5365359713722980929AAAC302509BenignHypomyelination_and_Congenital_Cataract...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5366359719722981404TG305783BenignHypomyelination_and_Congenital_Cataract..0.225040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5367359721722981528TC310823BenignHypomyelination_and_Congenital_Cataract..0.427520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5368359725722982207TC302520BenignHypomyelination_and_Congenital_Cataract..0.427720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5369359730722982547GA310601BenignHypomyelination_and_Congenital_Cataract..0.220651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5370359743722983600TC305847BenignHypomyelination_and_Congenital_Cataract..0.225040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5371359745722983702AT302533BenignHypomyelination_and_Congenital_Cataract..0.667131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5372359749722983890TC305881BenignHypomyelination_and_Congenital_Cataract..0.672131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5373359758722984772AGCA302539Uncertain_significanceHypomyelination_and_Congenital_Cataract...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5374359760722984824TC302544BenignHypomyelination_and_Congenital_Cataract..0.652951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5375359762722984967AG310888BenignHypomyelination_and_Congenital_Cataract..0.202480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5376706630722999894AC692215Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
537721726723015831TC34578BenignHypomyelination_and_Congenital_Cataract|not_sp...0.344510.373820.37481|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5378359798723164701CT310950Benign/Likely_benignPERCHING_syndrome|Retinitis_Pigmentosa,_Dominant0.458150.353750.420330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5379802302723195555CTTTATC790717BenignPERCHING_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5380359825724738164CG305960Likely_benignNonsyndromic_Hearing_Loss,_Mixed..0.120010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
538144840724742436TC54007Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Mixed0.148010.196120.201881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5382227286724747802CT229594Likely_benignnot_specified0.000310.00017.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
538344844724758795TC54011Benignnot_specified|Nonsyndromic_Hearing_Loss,_Mixed0.537370.571160.737621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5384359877725159184TC310733Likely_benignThrombocytopenia..0.778160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5385359878725159211AT306005Likely_benignThrombocytopenia..0.473040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5386359896725160369TC310753Likely_benignThrombocytopenia..0.015770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5387359907725160988AG310762Likely_benignThrombocytopenia..0.43910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5388359922725161602AG306027Likely_benignThrombocytopenia..0.015770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5389359923725161614AATGTT306034Likely_benignThrombocytopenia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5390359953727134003GT302746Likely_benignAthabaskan_brainstem_dysgenesis|Bosley-Salih-A.....0.039740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5391369585727135314CT353814BenignMicrotia,_hearing_impairment,_and_cleft_palate0.730430.7660.780751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5392432169730054488CCTTC425750Conflicting_interpretations_of_pathogenicitynot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5393683987730634004TC662895Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5394258532730634661CG252786BenignPeripheral_axonal_neuropathy|Charcot-Marie-Too...0.73988.0.649360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5395258537730643069CA252787Benignnot_specified0.491410.551770.399160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5396681750730652090CT662916Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5397683989730657193AG662934Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5398681718730662237GA662938Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5399258536730673345CT252795BenignPeripheral_axonal_neuropathy|Charcot-Marie-Too...0.489790.552540.404150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5400360021730673512TAT311094Uncertain_significancePeripheral_axonal_neuropathy|Charcot-Marie-Too......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5401226023730726777AT227761drug_responseselective_beta-2-adrenoreceptor_agonists_respo.....0.415340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5402440011733060946AG433763Benignnot_specified0.71710.680690.666931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5403167609733134883TC177381Benign/Likely_benignRetinitis_pigmentosa_9|not_specified|Retinitis...0.167850.207850.175520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5404360045733136983GA311120BenignRetinitis_Pigmentosa,_Dominant0.9940.993760.996611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5405360051733169258CG306176Likely_benignBardet-Biedl_syndrome..0.157950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5406360055733169406GA306180Likely_benignBardet-Biedl_syndrome..0.046731|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5407360059733169660TC306185Likely_benignBardet-Biedl_syndrome..0.148760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5408263126733192502AG252797Benignnot_specified0.155540.188520.157550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5409802303733385852CT790719BenignBardet-Biedl_syndrome_9...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5410263117733388713GA252807Benign/Likely_benignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.175530.204150.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5411360112734125420GT302890BenignDiaphanospondylodysostosis0.24727.0.18930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5412360118734192762GC306226BenignDiaphanospondylodysostosis0.90305.0.910141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5413360138734194102AG311236BenignDiaphanospondylodysostosis..0.266570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
54142192734818113AT17231risk_factorAsthma-related_traits,_susceptibility_to,_2.0.446550.467450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5415518385735293193AG508825BenignAtrial_septal_defect_4|Cardiovascular_phenotype0.746270.676680.693890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5416260759737901581GA252825Benignnot_specified0.934720.888540.836861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5417260762737903904CT252827Benignnot_specified0.79082.0.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5418164801737907304TC174226Benignnot_specified0.78710.738280.743411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5419164804737924737TG174093Benignnot_specified0.4411.0.553321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5420260754737924879AG252837Benignnot_specified0.441260.528170.553321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5421221007737934146TACT221701Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5422260756737934234GA252839Benignnot_specified0.651260.659570.612021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5423559088740228078AT549617Benignnot_provided0.08489.0.205270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5424559092740314165GA549621Benignnot_provided0.284340.359790.316090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5425559093740314243AG549622Benignnot_provided0.28214.0.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5426559095740899967GC549624Benignnot_provided0.29979..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5427360161742000924CT311248BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph.....0.31130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5428360162742001171GA302940BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph.....0.266170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5429360209742003500GA306272BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph.....0.451680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5430255433742005678GA252855BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph...0.256350.45580.421530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5431681351742007071CT662963Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5432255420742064852CG252868BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph...0.967780.973460.963461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5433683174742079356CA662928Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5434683173742084728AG662965Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5435255446742088222TC252880BenignPolydactyly|Pallister-Hall_syndrome|Greig_ceph...0.661850.563030.603630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5436683170742188330TC662420Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5437360286744183975TGT306342BenignMaturity_onset_diabetes_mellitus_in_young|Perm.....0.411140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5438129147744185088GA134593BenignMaturity_onset_diabetes_mellitus_in_young|Perm...0.33490.368060.413140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5439673534744189321AG662425Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5440676858744190468TG662432Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5441683651744198944GGC662969Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5442403258744579180GC389750Benignnot_specified0.22290.247750.24720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5443261965745077978GA252887BenignCerebral_cavernous_malformations_2|not_specified0.065050.062870.032950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5444712069747971659TC730500Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5445691984750466304AG679730associationLeukemia,_acute_lymphoblastic_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5446694328750470604TG682220associationLeukemia,_acute_lymphoblastic_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5447360432750544314CT311345BenignDeficiency_of_aromatic-L-amino-acid_decarboxyl...0.209520.20890.198280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5448360449755086755GT303193Likely_benignLung_cancer..0.226440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5449360450755086780AC311361Likely_benignLung_cancer..0.929711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5450134021755229255GA137760Benign/Likely_benignLung_cancer|not_specified0.202680.286960.292130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5451259677755238874TA252901Benign/Likely_benignLung_cancer|not_specified0.32247.0.390380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
545245271755249063GA54438Benign/Likely_benignLung_cancer|not_specified0.542440.522780.432710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5453360476755273591GGA311489Likely_benignLung_cancer...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5454360482755274084TC306517Likely_benignLung_cancer..0.18690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
545592588765425894AG98496BenignMucopolysaccharidosis_type_VII|not_specified|n...0.490850.579630.580671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5456528232765432567TC522777Benignnot_provided..0.55991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
545792583765439879GC98491Benignnot_specified|not_provided0.488540.572210.56431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
545892591765444359TTGA98499Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5459680525765541307CG662958Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5460676097765551931TC662962Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5461675236765552614TC662438Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5462129370766098384GA134816Benign/Likely_benignSeizures|Progressive_myoclonic_epilepsy|not_sp...0.083040.102280.078270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5463262690766103435CCAGGA252906Benignnot_specified|not_provided0.107370.12880.12540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5464360600766105163CG306626BenignProgressive_myoclonic_epilepsy..0.62380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5465360601766105198CA303285BenignProgressive_myoclonic_epilepsy..0.62360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5466360619766106875AG303299BenignProgressive_myoclonic_epilepsy..0.62340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5467360627766107971CG311548Likely_benignProgressive_myoclonic_epilepsy..0.112820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
546821544766453460GA34396BenignShwachman-Diamond_syndrome_1|not_specified0.039370.038260.018170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5469675424773457255GA663006Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5470177898773474825GC176596BenignSupravalvar_aortic_stenosis|Cutis_laxa,_autoso...0.072510.071190.040140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5471683509773475775GA662978Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5472683865773480805GA663031Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5473360671773483531CCA306729BenignSupravalvar_aortic_stenosis|Cutis_laxa,_autoso.....0.290140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5474138789775614082CG142492BenignAntley-Bixler_syndrome_with_genital_anomalies_...0.852710.909090.81191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5475138790775614953TC142493BenignAntley-Bixler_syndrome_with_genital_anomalies_...0.8729.0.835261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5476256840775615006CT252929Benign/Likely_benignAntley-Bixler_syndrome_with_genital_anomalies_...0.236740.36390.286141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5477360731775616105GA303417Likely_benignAntley-Bixler_syndrome_with_genital_anomalies_.....0.268771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5478667830775677504CT655803Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5479129565777756580TC135011Benignnot_specified|not_provided0.883980.824810.786540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5480129564777756724CT135010Benignnot_specified|not_provided0.883980.82440.786340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5481129557778119109CT135003Benignnot_specified|not_provided0.345460.29420.323080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5482360740780231504GC306836Likely_benignPlatelet_glycoprotein_IV_deficiency..0.633390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5483487077780242920AG480401....0.346850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5484360748780275455AC311770Likely_benignPlatelet_glycoprotein_IV_deficiency..0.391970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5485360754780290369AG311791Likely_benignPlatelet_glycoprotein_IV_deficiency0.920340.964940.918331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
548643607781346685TC52776Benign/Likely_benignDeafness,_autosomal_recessive_39|not_specified...0.75304.0.798321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5487674767781598988GA662981Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5488674594781600197AG663052Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5489674593781600267TG663057Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5490674592781601231CG663065Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5491678451781604102AAGTATTAG662984Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5492416574781634822GAG396450Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5493668817781641188TC663067Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5494516741781641570GGAAA501832Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5495683280781667117AC663072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5496683279781667804AG662988Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5497674634781693768TC663083Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5498668894781964857GT663009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5499668892781978624AG663013Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5500260254783029438CT252945Benignnot_specified|not_provided0.338080.422340.339461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5501260257783034754TA252946Benignnot_specified0.459940.606340.555111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5502260255783037751CA252948Benignnot_specified|not_provided0.461630.60780.556311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5503194754783590852TC191917Benignnot_specified0.583580.61320.612020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5504256164787032613AG252949Benignnot_specified0.92342.0.879991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5505256161787053206GA252952Benignnot_specified0.925960.899010.87361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5506256160787056176TC252953BenignProgressive_familial_intrahepatic_cholestasis|...0.168540.105650.170330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5507198082787082292GA195243BenignProgressive_familial_intrahepatic_cholestasis|...0.404120.476480.347840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5508225939787138645AG227763drug_responseMDR1_POLYMORPHISM|fentanyl_response_-_Dosage,_...0.576660.503440.604830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5509166622787160618AC176988drug_responseInflammatory_bowel_disease_13|not_specified|on...0.67807.0.617011|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5510194187787179601AG191350Benignnot_specified|not_provided0.64240.541910.583870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5511683171791570129CT663016Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5512360809791570290GC311831Likely_benignLong_QT_syndrome|Romano-Ward_syndrome..0.628590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5513672176791570615CA662996Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5514682737791622676GA663113Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5515671862791629984TG663021Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5516671863791630001GC662508Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5517136347791630620GT140050Benign/Likely_benignLong_QT_syndrome|Colorectal_cancer|Long_QT_syn...0.440470.38290.37220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5518136349791632306CT140052Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.906350.892390.93591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5519136350791641928AG140053Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.44180.383780.37380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5520671864791643402GT663007Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5521682744791645152GC662510Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5522671865791645265AG662514Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5523671629791645893TC663025Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5524671866791646198CT663027Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5525190508791652178AAAAC188441Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|not_spec...0.479070.398920.424720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5526671867791659150CG663018Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5527671868791661111GC663024Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5528671869791667692TG662517Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5529682746791668365GA662525Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5530671870791669808GA663128Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5531671871791671853CA663033Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5532682749791672403GA663037Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5533136331791674302GA140034BenignLong_QT_syndrome_11|not_specified0.483160.399280.428510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5534682750791674807TC663032Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5535677984791681789GGA662526Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5536671872791690457AG663040Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5537136333791691601CT140036Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.427730.379460.359820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5538671873791691946GT662537Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5539682752791699779GA663131Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5540682753791699907AC662538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5541677811791699980CT663134Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5542136335791707197CT140038Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.426970.407650.362420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5543671874791708219TC662548Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5544671885791711791AG663055Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5545136340791712698AG140043Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.356070.359340.295930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5546136341791713972CT140044Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.440960.383170.37380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5547136342791714911CT140045Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.997390.99620.99881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5548136343791715662CT140046Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.355680.358880.295730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5549669435791725694GC663035Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5550136344791726927AC140047Benign/Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Long_QT_...0.446260.384590.37740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5551671886791727385GA662564Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5552677812791735299AG663153Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5553671003791736464TG663043Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5554671887791736794TA663069Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5555671888791736874AG663070Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5556671889791736921CT663049Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5557682754791737057TC663050Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5558677167791743150AG655811Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5559360872791829671AAT303560BenignAngiokeratoma_corporis_diffusum_with_arteriove......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5560360922792129161CAC303594Conflicting_interpretations_of_pathogenicityPeroxisome_biogenesis_disorder_1A_(Zellweger)|......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
556193105792131289GT99012BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.931720.921820.949881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
556293112792147584CT99019BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.864680.879260.893971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
556317636793055753AG32675risk_factorBone_mineral_density_quantitative_trait_locus_15.0.380030.543530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5564683354794023646CA663154Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5565683355794035892CT663053Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5566254957794038934CT252979BenignEhlers-Danlos_syndrome,_procollagen_proteinase...0.809930.781550.828081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5567254958794039032CT252980BenignEhlers-Danlos_syndrome,_procollagen_proteinase...0.804090.774220.824281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5568674811794039900CT663158Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5569674812794040133TA663163Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5570254952794041937AC252981BenignEhlers-Danlos_syndrome,_procollagen_proteinase...0.36106.0.327281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5571254953794043239CG252982BenignEhlers-Danlos_syndrome,_procollagen_proteinase...0.79433.0.821691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5572683330794044222TC663176Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5573674831794052495AG662589Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5574674833794056244CG663080Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5575360976794059899CT312030BenignEhlers-Danlos_syndrome,_procollagen_proteinase.....0.221450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5576360983794060359AAGTTGTCC303655BenignEhlers-Danlos_syndrome,_procollagen_proteinase.....0.787940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5577487363794227276TG480429BenignMyoclonic_dystonia.0.69540.762381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
557813735794937446TC28774association,_risk_factorEnzyme_activity_finding|Coronary_artery_diseas....0.377050.542930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
557913736794946084AT28775association,_risk_factorEnzyme_activity_finding|Coronary_artery_diseas....0.291270.182710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
558013737794953895GA28776otherEnzyme_activity_finding..0.349041/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5581402811795668664CA389826Benignnot_specified0.22490.199910.211860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5582402812795709666CA389761Benignnot_specified0.462480.489750.43651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5583683863795820219TC663105Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5584260371795864108TC252989BenignCitrin_deficiency|Citrullinemia_type_I|not_spe...0.688990.617920.609821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5585667997797488569AT655822BenignAsparagine_synthetase_deficiency|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
558616916799382096CT31955drug_responseCYP3A4_PROMOTER_POLYMORPHISM|Cyp3a4-v|tacrolim.....0.769171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5587678005799701176GA662419Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5588678154799703505AG662448Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5589213697100225031GA34221BenignHereditary_hemochromatosis|Hemochromatosis_typ...0.163060.247510.129991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5590166027100317298CA31641risk_factorMicrovascular_complications_of_diabetes_2..0.674720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55914036157100371473CT389693Benignnot_specified.0.514570.237021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55924036167100371474GA389793Benignnot_specified.0.472430.445490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55937693347100385561GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATG699700Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55948110007100410597GA799458Benignnot_specified...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55958116467100411278TC799459Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55968116437100416250AG799464Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55973583167100781084TC304468BenignPlasminogen_activator_inhibitor_type_1_deficiency..0.430910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55983583197100781445TG309196BenignPlasminogen_activator_inhibitor_type_1_deficiency..0.430510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
55993583257100781711TTCGCGCCCCC309203BenignPlasminogen_activator_inhibitor_type_1_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56003583387100782460GA309223BenignPlasminogen_activator_inhibitor_type_1_deficiency..0.341650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5601483397103053435AG57501Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.398740.3150.442690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56023583697103112862CT309106BenignLissencephaly,_Recessive..0.99841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56033583737103113192CT301324Likely_benignLissencephaly,_Recessive..0.023560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5604952097103124207TC101109BenignLissencephaly_2|not_specified|Lissencephaly,_R...0.174770.138920.231630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56056691417103129951AG662447Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56066689667103130805AG662059Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56076691407103131495AC662443Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56086709287103132208GA662072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56096691397103132671AT662461Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5610952347103138517CG101134BenignLissencephaly_2|not_specified|Lissencephaly,_R...0.990930.986960.995611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5611952317103151436TC101131Benign/Likely_benignLissencephaly_2|not_specified|Lissencephaly,_R...0.047590.049810.078080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56126689657103151772AG662462Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5613952307103155705AG101130BenignLissencephaly_2|not_specified|Lissencephaly,_R...0.495460.472190.648360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56146691377103162370CT662451Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56156691367103162847TC662477Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56166840747103163552AC662456Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56176840737103164238TC662080Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56182596127103175965CT252553Benignnot_specified|not_provided0.75688.0.710261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56196691357103176052CT662466Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56206691347103191428CT662464Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56216840717103193651TC662468Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56226691327103201735TC662484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56232596087103207234TC252557Benignnot_specified0.467320.41370.473640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56246691297103207411GGAAGGAAA662488Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56256691287103214940TC662092Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56266691197103229849TC662498Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56276840677103230541AC662097Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56286840647103243492TC662103Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56296689487103270088TA662499Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56306709687103275803TC662505Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56316691127103294305TC662490Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56326707227103302279CG662496Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5633952247103389954AG101124BenignLissencephaly_2|not_specified|Lissencephaly,_R...0.510760.496020.465460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56346689467103473658CT662511Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56354163787105188996GA395528Benignnot_specified0.025220.027370.011180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56363584377106842683AATCTT309207Likely_benignCongenital_disorder_of_glycosylation...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56373584427106843133GC309212Likely_benignCongenital_disorder_of_glycosylation..0.130190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56383584457106843416ATA301392Likely_benignCongenital_disorder_of_glycosylation...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56393584587106897237AC304590Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.158930.19830.129790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56403800607107002573TC369409Benignnot_specified0.162460.222860.135580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5641953747107002806AG101273BenignCongenital_disorder_of_glycosylation|not_speci...0.65470.550770.648361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56425163977107052927AACA502153Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56433584737107188719GT309240Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.265650.265130.24880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56443799587107198405AT369124Benignnot_specified0.413350.423040.379991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56453585157107356759GA304660Likely_benignPendred_syndrome|Nonsyndromic_Hearing_Loss,_Re.....0.241410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56463585387107414419AG309313BenignCongenital_secretory_diarrhea,_chloride_type0.991620.993570.9981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56473585457107423254CT309333BenignCongenital_secretory_diarrhea,_chloride_type0.142320.158070.150960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56486837357107544208CG662116Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56491370947107545799TC140797Benign/Likely_benignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv...0.648520.618180.716050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56501371027107559722AT140805BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv...0.29758.0.275760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56513585757107559911GA309370BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.710660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56523585797107560191CT301488BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.714460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56533585837107560651GT301489Likely_benignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.272360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56543585847107560682TC304740BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.714660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56553585887107561155TC301500BenignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.715260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56563585897107561392GA301501Likely_benignMaple_syrup_urine_disease|Leigh_syndrome|Pyruv.....0.272170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56573585927107561494TTTTAT304744Uncertain_significanceMaple_syrup_urine_disease|Leigh_syndrome|Pyruv......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56586829937107565007AC662521Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56596812267107565138CT662524Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56606829827107566430AG662528Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56616829817107566488GT662118Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56623808417107569517AG368852Benignnot_specified0.453480.405560.433510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56636812447107575557GA662529Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56646829797107580839AG662540Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56656829787107581035AG662122Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56666812257107581115CG662497Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56676829777107591914AG662124Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56683808377107593989TC369153Benignnot_specified0.652310.644690.695491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56696812337107594549GA662126Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56706812237107600558CT662128Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56716829767107601523TC662500Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56723808387107603431AC370717Benignnot_specified0.30586.0.285740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56736829727107604818TG662546Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56746812227107605412CT662531Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56756829687107613379GA662544Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56766829757107615274CT662551Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56773808397107615506CT369160Benignnot_specified0.094880.101270.097240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56786829747107616011CG662556Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56796829737107616049CA662135Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56806829717107616068TC662519Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56816829707107616078GA662558Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56826829677107618420AG662561Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56836812437107626186CT662563Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56843808367107626770GA368881Benignnot_specified0.107260.117850.091250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56856829627107626994AG662520Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56866829617107635105GC662565Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56876829607107643521TG662569Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
568887067113518434CA23745risk_factorInsulin_resistance,_susceptibility_to.0.219060.308710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56893586537114332234AT304847BenignSpeech-language_disorder_1.0.014220.009980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56906724787116165360AC662532Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56916733507116165463TC662606Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56923586817116312582GT304869Uncertain_significanceRenal_cell_carcinoma,_papillary,_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56938023477116381121GGT790675BenignRenal_cell_carcinoma,_papillary,_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56948023517116409675CTC790679BenignRenal_cell_carcinoma,_papillary,_1...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56951940247116409690TCT191187Conflicting_interpretations_of_pathogenicityRenal_cell_carcinoma,_papillary,_1|not_specifi......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56966778667116409950TC662576Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5697510297117119337TG65697Likely_benignCystic_fibrosis|not_specified..0.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56983587607120428607GA304926BenignFamilial_exudative_vitreoretinopathy0.771760.804830.846251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
56992602537120428799CA252574BenignFamilial_exudative_vitreoretinopathy|not_speci...0.773640.803220.851441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57006770207124465097AT662585Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57016770197124465509AC662622Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57026770177124469267AT662155Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57036770167124469587GA662596Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57046770157124480869TC662550Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57055165867124481245GA501786Benignnot_specified0.388860.411380.418930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57066770147124481403TA662599Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57076770137124481420TA662600Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57085165857124486980TC501547Benignnot_specified0.710440.695020.721850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57096770127124492038TC662629Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57104750947124499002ATCA457119Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57116770117124503196CT662634Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57126788697124538615CT662570Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57136788687124568710AG662611Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57143587787127250597GA304937BenignMaturity_onset_diabetes_mellitus_in_young..0.669131|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57153587917127250907TC301741BenignMaturity_onset_diabetes_mellitus_in_young.0.763230.669331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57161298787127251188TG135324BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.768920.757810.670531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57171298767127253898GA135322Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young|not_...0.052130.045130.017770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57183695767127255795CG353805BenignMaturity_onset_diabetes_mellitus_in_young..0.602441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57197783627127892146AG699807Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57203588397127896536AG301816BenignLeptin_deficiency_or_dysfunction|Monogenic_Non.....0.947680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57213588427127897021GA304954Likely_benignLeptin_deficiency_or_dysfunction|Monogenic_Non.....0.118610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57223588457127897069CA309786Likely_benignLeptin_deficiency_or_dysfunction|Monogenic_Non.....0.460060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57237729007127983761CT699809Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57243588767128038555CG309824Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos...0.138860.160940.130190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57257682007128140982TC699817Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57266798717128470376CT662641Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57276801977128470462CA662171Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57286801987128470482GA662173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57291290817128470838CT134527Benignnot_specified|not_provided0.093740.094460.110020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57306802007128481857AT662181Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57316802017128485850TG662620Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57322266417128487866TC229552Benignnot_specified0.991250.997310.990621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
573333967128578301GT18435Pathogenic,_risk_factorRheumatoid_arthritis|Systemic_lupus_erythemato.....0.413540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57347682017128587351CACTCTGCAGCCGCCCACTCTGCGGCCGCCTC699841Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
573533977128589427GA18436risk_factorSystemic_lupus_erythematosus_10..0.535940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57366707967128597587TG662623Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57372602657128607384GA252607Benignnot_specified0.510610.47790.476840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57386707837128619415TA662691Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57396702397128630227CT662651Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57406707777128630313TC662655Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57416707827128633722TC662203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57426689767128640188AG662650Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57436707757128640293CT662653Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57446707737128640334AT662206Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57452602687128641226GC252612Benignnot_specified0.37160.409720.341850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57466707727128644857CT662657Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57476707787128645292AC662208Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57486689747128645513TC662692Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57496707767128654840TA662654Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57506707707128655434AAT662662Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57516707687128656831CT662694Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57526707537128657277TC662661Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57536707527128694976CT655780Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57546798667128695279AG662664Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57554034627128846328GC389787Benignnot_specified0.789640.797490.756191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57562584747130021488GC252615Benignnot_specified0.55068.0.582271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57573588837130033630CT301846BenignJoubert_syndrome.0.536830.555311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57583588967130034437CG309694BenignJoubert_syndrome.0.339460.349441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57593588997130034695TC309860Likely_benignJoubert_syndrome.0.206220.234031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57603589057130035205GGA301897BenignJoubert_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57612610537130080812TG252622BenignJoubert_syndrome|not_specified0.371370.449280.478630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57627037887136701308TA692161Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57632598917137801413AC252626Benignnot_specified|Congenital_Bile_Acid_Synthesis_D...0.82239..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57643589567137801444CT305060BenignCongenital_Bile_Acid_Synthesis_Defect0.817390.778130.777961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57653589627137801770AC309898Likely_benignCongenital_Bile_Acid_Synthesis_Defect..0.181710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57663589657137801915GA305064BenignCongenital_Bile_Acid_Synthesis_Defect..0.778951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57677406287138333819CT750441Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57683589997138391130CT309792BenignDistal_Renal_Tubular_Acidosis,_Recessive..0.207071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57693590007138391207GA309812Likely_benignDistal_Renal_Tubular_Acidosis,_Recessive..0.051321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57702613437138417718AG252628Benignnot_specified|Distal_Renal_Tubular_Acidosis,_R...0.633090.719720.677520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57712613427138418910GA252629Benignnot_specified|Distal_Renal_Tubular_Acidosis,_R...0.683220.726710.716650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57722613457138455988AG252632Benignnot_specified|Distal_Renal_Tubular_Acidosis,_R...0.73220.703980.679510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57733590477140434597GGA302001Uncertain_significanceNoonan_syndrome|Noonan_syndrome_with_multiple_......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57747682087141796131GA699893Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57752588037142460865TC252642Benign/Likely_benignnot_specified.0.504070.393770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57767682107142583330AC699898Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57776791497143013171TG662683Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57783590947143016928CT302026BenignMyotonia_congenita|not_specified0.40797.0.322880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57798023787143017807GT790706BenignCongenital_myotonia,_autosomal_recessive_form...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57806791507143017960CG662687Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57816791517143020625TC662722Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57826799087143020649GA662215Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57836799097143028536GA662695Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57846799107143029371GT662702Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57852890077143029983TC273244Benignnot_specified0.137480.146410.092450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57866799127143030146CA662707Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57873591117143036337CT305233BenignMyotonia_congenita|Congenital_myotonia,_autoso...0.47240.41080.414340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57886801427143039780GA662718Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57896680957143042321CA662742Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57906801437143042552GA662724Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57913591187143042837CT310073BenignMyotonia_congenita0.399010.539690.478241|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57923591197143043240CT302046BenignMyotonia_congenita|not_specified0.423270.397420.369410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57937184757143094390GA730472Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57943591357144094613GT302073Likely_benignPremature_ovarian_failure.0.215410.105630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57952865257144095600AG270762BenignPremature_ovarian_failure|not_specified.0.68070.696290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57961385357144096068CT142238BenignPremature_ovarian_failure|not_specified0.177610.263610.162140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57973591447144096839AG305256BenignPremature_ovarian_failure0.599570.67570.706270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57983591527144098992GA310019BenignPremature_ovarian_failure0.60050.631180.706270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
57991385367144107279AG142239Benign/Likely_benignPremature_ovarian_failure|not_specified0.126880.228570.105030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58006737287144150996TG662740Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58013591717145813854GA305281BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like.....0.511981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
580254927146489606AT20531risk_factorAutism_15..0.505391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58036725457146805118GC662227Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58046687857146817813CA662758Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58056799297146826061AG662775Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58066767487146997498AAAAAC662778Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58076687877147258966AC662803Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58086799307147258991AG662730Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58096799327147259105GA662780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58106706327147259374AG662804Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58116706337147259438AG662784Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58126799277147259551CT662735Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
581354917147574390AG20530risk_factorAutism_15..0.588661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58146681017147914885TG662761Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5815955677147926888AC101465Benignnot_specified0.41650.375470.360221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58166799367147964377AG662808Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58176681027148080463CT662269Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58186799317148080499TC662809Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58196799337148080597CT662764Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58206706507148080647TG662814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5821955737148106490GA101471BenignHistory_of_neurodevelopmental_disorder|Pitt-Ho...0.585040.540660.549121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58226709187148106651GA662765Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58236681037148112234TC662770Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58246708517148112448AT662822Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58253591997148112872CCA305292BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like......1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58263592027148112987CA310071BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like.....0.660740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58273592087148113623ATAGTTA310185BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58283592417148115638GAAG305319BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58293592617148116692AAT310143BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58303592717148117505GC302173BenignPitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like.....0.793530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58312594007148504716AGA252646BenignWeaver_syndrome|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58326801307148504854AAGACTT662829Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58336801287148506064AG662836Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58346801267148508481AG662843Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58356704727148508833AG662278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58366709317148543525AG662779Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58372109667148543693TAT207472BenignWeaver_syndrome|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58386817017148543753CT662853Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58396719507150645682GA662287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58402002307150648198AG197235Benign/Likely_benignArrhythmia|Long_QT_syndrome|not_specified|Card...0.690450.665840.772171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58412002287150648789TC197263Benign/Likely_benignArrhythmia|Long_QT_syndrome|not_specified|Card...0.489390.478590.608431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5842364287150649531GA45091Benign/Likely_benignArrhythmia|Long_QT_syndrome|Cardiac_arrhythmia...0.226360.293450.341651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58432556147150649603GA252648Benign/Likely_benignArrhythmia|Long_QT_syndrome|not_specified|Card...0.2302.0.342651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58446719497150652286CG662883Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58456780327150654820TC662292Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58466718957150672162TTC662298Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58475176607150690079CT508751protectiveMetabolic_syndrome,_susceptibility_to..0.765581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58484032487150695726TC389810Benignnot_specified0.755390.770130.817690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5849140157150696111TG29054BenignIschemic_heart_disease,_susceptibility_to|Isch....0.753020.823681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58504032507150708089AG389797Benignnot_specified0.839230.844080.888381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58514032517150709571GT389815Benignnot_specified0.288450.37790.361820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58526676237150878260CG655788Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58534023987150884266CCAG390498Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58543593207151253226CT302196Likely_benignWolff-Parkinson-White_syndrome|Glycogen_storag.....0.553910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58553593227151253246GGA302204Uncertain_significanceWolff-Parkinson-White_syndrome|Glycogen_storag......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58563593357151253765CA305426Likely_benignWolff-Parkinson-White_syndrome|Glycogen_storag.....0.549920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58573593427151254175TC302216Likely_benignWolff-Parkinson-White_syndrome|Glycogen_storag.....0.554310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58586836297151254576TC662787Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58592606947151267353GA252649Benignnot_specified0.08310.143040.144170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58606745397151269916CT662896Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58612606977151292395AAT252652Likely_benignnot_specified0.70690.764670.804710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58626837127151483896CG662322Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58632606927151573731GA252655Benign/Likely_benignWolff-Parkinson-White_syndrome|Glycogen_storag...0.129270.174310.18891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58642260117154072020TC227765drug_responseantipsychotics_response_-_Toxicity/ADR..0.577281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5865166317155253993GA31670Uncertain_significanceAutism_10..0.757391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5866166327155254145TC31671Uncertain_significanceAutism_10..0.758991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58676675977155598666TC662812Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58686696617155598671CA662863Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58696750037155598879AC662864Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58702554957155599300CT252656Benignnot_specified0.452080.582290.475040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58713594047156475447GA310280BenignTriphalangeal_thumb_polysyndactyly_syndrome..0.196691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58723594107156476389AG310399BenignTriphalangeal_thumb_polysyndactyly_syndrome..0.198481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58733594187156476683TA310406BenignTriphalangeal_thumb_polysyndactyly_syndrome..0.092250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58746690097156584063GC662907Benign/Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58757682207156584567GC699961Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58766793057157202282TA662349Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58776681187157208458CT662357Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58786792967157208617CT662888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58793594727157209491TC302331BenignLimb-Girdle_Muscular_Dystrophy,_Dominant|Myofi.....0.981631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58803594747157209551CT310367BenignLimb-Girdle_Muscular_Dystrophy,_Dominant|Myofi.....0.360820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58815162357158664253GA502043Benignnot_specified0.052080.057950.066690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58825162047158672476CG502324BenignShort-rib_thoracic_dysplasia_8_with_or_without...0.990960.991960.995811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58835162197158672619AG501998Benignnot_specified0.457030.441040.573681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58845162057158715219AG501695Benignnot_specified0.849230.841910.886180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58855162067158719084CT502000Benignnot_specified0.762740.793080.780550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58865162257158734813CT502053Benignnot_specified0.16724.0.112820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
588767991781728292TC662767Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
588851839081830928AG508830BenignSlowed_nerve_conduction_velocity,_autosomal_do...0.628410.665780.742410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
588961853681833801GC609686BenignCharcot-Marie-Tooth_disease|Slowed_nerve_condu...0.10810.159370.168330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589051839281900855AG508832BenignSlowed_nerve_conduction_velocity,_autosomal_do...0.930580.949060.949481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589136351586264130GC314971BenignPrimary_Microcephaly,_Recessive0.67266.0.538741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589215885486266774GA168641Likely_benignnot_specified0.32690.255360.372011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589367044586272185GT662866Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589467044686272477AG663359Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589567044786272481CG663364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589668314886272532TA662867Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589768315086272543AC663368Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
589815887986302154GT168657Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_1|not...0.118180.115330.070291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
58999612686302418AG102020BenignPrimary_autosomal_recessive_microcephaly_1|not...0.992660.997980.994411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590068315186312880CT663363Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590115883486338306CA168676Benign/Likely_benignnot_specified|Primary_Microcephaly,_Recessive0.13297.0.146371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590268432386338689GA663369Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590315883786377433CT168680Likely_benignnot_specified0.243810.264810.149761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590415883886378763CT168681Likely_benignnot_specified0.365290.344910.30971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
590515883986389889CA168682Likely_benignnot_specified0.42734.0.289741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5906361187810463944AC312241BenignOccult_macular_dystrophy..0.56051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5907361200810464307GA312140BenignOccult_macular_dystrophy..0.466250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5908361207810464616GA307279Likely_benignOccult_macular_dystrophy0.00330.001470.00040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5909361209810464755CT312150BenignOccult_macular_dystrophy0.376740.470240.472050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5910361212810464885TC312151BenignOccult_macular_dystrophy0.522710.609410.650960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5911361222810465097CT312285BenignOccult_macular_dystrophy0.446080.378150.31211|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5912361235810465748TC312170BenignOccult_macular_dystrophy0.521860.607070.649361/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5913361236810465771GT312296BenignOccult_macular_dystrophy0.924050.949410.919731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5914361242810465942TA307332BenignOccult_macular_dystrophy0.196180.250070.237420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5915361259810466482GA312214BenignOccult_macular_dystrophy0.449820.382570.31070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5916361276810467124GC312243BenignOccult_macular_dystrophy0.243910.294470.281750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5917361282810467207CA303830BenignOccult_macular_dystrophy0.951580.981960.94091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5918361309810468172GA312322BenignOccult_macular_dystrophy0.707050.730870.708071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5919361349810469233AG312440BenignOccult_macular_dystrophy0.477060.423520.31490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5920361367810469817GA307405BenignOccult_macular_dystrophy0.846210.844650.797321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5921361372810470068CT303896BenignOccult_macular_dystrophy0.448020.391230.294730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5922361437810512511GC307484BenignOccult_macular_dystrophy..0.489820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5923361468811351912CT312558BenignMaturity_onset_diabetes_mellitus_in_young..0.425720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5924361471811352056AG307514BenignMaturity_onset_diabetes_mellitus_in_young..0.823681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
592512319811405576GA27358Conflicting_interpretations_of_pathogenicityMaturity_onset_diabetes_mellitus_in_young|Matu...0.01530.011710.012380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5926128527811406593TC133976BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.509690.4830.416930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5927128529811414237TC133978BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.812470.831670.827681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5928361498811421709GC304030Likely_benignMaturity_onset_diabetes_mellitus_in_young..0.050120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5929361500811421793CT304039BenignMaturity_onset_diabetes_mellitus_in_young.0.493230.557111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
593012320811421955TG27359Likely_benignMaturity_onset_diabetes_mellitus_in_young|Matu....0.011470.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
593112321811430641CT27360Conflicting_interpretations_of_pathogenicityMaturity-onset_diabetes_of_the_young,_type_11..0.06450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5932433016811606312TC426523Conflicting_interpretations_of_pathogenicityCongenital_heart_disease..0.871611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5933139596811612698CA143221Conflicting_interpretations_of_pathogenicityCongenital_heart_disease|not_provided0.59396.0.734430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5934433015811615695AG426531Conflicting_interpretations_of_pathogenicityCongenital_heart_disease..0.270170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5935139593811616338AC143218Uncertain_significancenot_provided..0.361420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5936139594811616410CT143219Uncertain_significancenot_provided..0.227240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5937433026811617240AT426534Conflicting_interpretations_of_pathogenicityCongenital_heart_disease..0.399960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
593895430815508200TC101329Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.307170.337980.293131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5939362319815622454CT313481BenignCongenital_disorder_of_glycosylation..0.744211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5940362320815622519TC313572BenignCongenital_disorder_of_glycosylation..0.754591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5941362328815622858AG304690Likely_benignCongenital_disorder_of_glycosylation..0.213261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
594214357816012594GA29396Conflicting_interpretations_of_pathogenicityMalignant_tumor_of_prostate|Hereditary_cancer-.....0.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5943670833817137687GA662763Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5944362350817913970GA313506BenignFarber_disease..0.717250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5945362355817914305GC313616BenignFarber_disease..0.275560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5946362356817914314AG313621BenignFarber_disease..0.279950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5947362357817914331ACTTCA313622BenignFarber_disease...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5948362358817914348GA304724Likely_benignFarber_disease..0.079670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5949362359817914356GC304726BenignFarber_disease..0.274960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5950362364817914709CT308429Likely_benignFarber_disease..0.028350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5951362365817914799GA304732Likely_benignFarber_disease..0.106230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5952362367817914859AT304736Likely_benignFarber_disease..0.106030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5953362372817914919AT304751BenignFarber_disease..0.364220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5954678049817916224AC663331Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5955678048817916553CT663292Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5956259283817918934AG253089BenignFarber_disease|not_specified|not_provided0.86660.943090.850241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5957362381817924739AT304754Benign/Likely_benignFarber_disease|not_specified|not_provided0.034370.04220.022761/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5958259280817924849CT253092Benignnot_specified0.226370.421550.392971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5959678046817927061GT663336Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5960678045817927082TC662774Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5961678030817927184AG663339Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5962678029817927248AC663306Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5963558958817927280GT549640Benignnot_provided0.348590.413080.339060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5964197388817927294CT194549BenignFarber_disease|not_specified|not_provided0.420170.477810.419931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5965197389817927327TC194550BenignFarber_disease|not_specified|not_provided0.421630.479650.420531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5966678028817927516AG663312Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5967678027817927634TC663341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5968678026817928626AG662793Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5969259279817928762TTATA253093Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5970259278817928811CT253094BenignFarber_disease|not_specified|not_provided0.424270.538550.420531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5971259277817928920TC253095Benignnot_specified|not_provided0.423790.524370.420331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5972678025817928999GA663351Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5973678024817930605AC663366Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5974678023817930727GA663319Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5975678022817930734CA662813Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5976402397817930772CT389782Benignnot_specified|not_provided0.423940.465070.413541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5977678021817930999AG662821Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5978672022817931091CT663322Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5979259275817933099GA253096Benign/Likely_benignFarber_disease|not_specified|not_provided0.107720.106380.110021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5980259276817933146CT253097Benignnot_specified0.10226.0.106231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5981362390817941668CT308432Uncertain_significanceFarber_disease..0.006991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5982558961817942332AG549643Benignnot_provided0.034060.042150.024760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
598317808818080001GA32847BenignNAT1*17_ALLELE|not_specified.0.02090.016970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5984375653818257795CT362499drug_responseethambutol,_isoniazid,_pyrazinamide,_and_rifam...0.357370.344890.397360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5985722818258103GA15761drug_responseSlow_acetylator_due_to_N-acetyltransferase_enz....0.277270.264980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
59861550819813529AG16589Conflicting_interpretations_of_pathogenicityHyperlipidemia,_familial_combined,_susceptibil....0.013360.005190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
59871559819819439AG16598associationHigh_density_lipoprotein_cholesterol_level_qua.....0.349440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
59881534819819724CG16573Likely_benignLIPOPROTEIN_LIPASE_POLYMORPHISM|Hyperlipoprote....0.09350.092450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5989362430819823648AT308459BenignHyperlipoproteinemia,_type_I..0.337460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5990362432819823674CT313618Likely_benignHyperlipoproteinemia,_type_I..0.091250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5991362440819824045CA308491Likely_benignHyperlipoproteinemia,_type_I..0.090260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
599240131819824492TC48634BenignHyperlipoproteinemia,_type_I|High_density_lipo.....0.334860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5993362448819824563TC308525Likely_benignHyperlipoproteinemia,_type_I..0.12760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5994362450819824626CCTT313721Likely_benignHyperlipoproteinemia,_type_I...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5995362452819824667CT313723BenignHyperlipoproteinemia,_type_I..0.333070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5996362455821971961TTA313665BenignAlopecia_universalis|Atrichia_with_papular_les......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5997362466821972973GT304810BenignAlopecia_universalis|Atrichia_with_papular_les.....0.356630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5998362521821984650AG304851BenignAlopecia_universalis|Atrichia_with_papular_les...0.65180.612310.579270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
5999362525821984945CT313732BenignAlopecia_universalis|Atrichia_with_papular_les...0.280680.320490.296330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6000362542821988515AC308587BenignAlopecia_universalis|Atrichia_with_papular_les.....0.608230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6001362569822021933CT313869Benign/Likely_benignIdiopathic_fibrosing_alveolitis,_chronic_form|....0.205980.104430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6002362572822022655CGGAGC313871Uncertain_significanceOsteogenesis_Imperfecta,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6003362573822022749AG313878BenignIdiopathic_fibrosing_alveolitis,_chronic_form|.....0.741410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6004680492822038144GC663373Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6005674968822053123TC663375Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6006362592822059363GA313894Benign/Likely_benignnot_specified|Osteogenesis_Imperfecta,_Recessive0.076750.050250.050320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6007675091822059520AG663378Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6008680516822059606GA663327Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6009680493822065179AG663330Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6010674720822066855CT663340Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6011675150822069018CT663381Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6012362607822069386TC308665Likely_benignOsteogenesis_Imperfecta,_Recessive..0.133990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6013768230822262228AGCTGCTA700522Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6014720868822428590GA723003Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6015162169823082971GT171882not_providednot_provided..0.400760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6016362624824809067CT304973BenignCharcot-Marie-Tooth_disease,_type_I..0.719650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6017362632824809636CG304991BenignCharcot-Marie-Tooth_disease,_type_I..0.542730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6018362641824810088TA305005BenignCharcot-Marie-Tooth_disease,_type_I..0.720850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6019694999824811064AGA683010Uncertain_significanceCharcot-Marie-Tooth_disease...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6020670555824814205GT662832Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6021667514824814403TC663383Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6022362657825281329AG308710Uncertain_significanceIsolated_GnRH_Deficiency..0.019970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6023362664827317337AG308736BenignNocturnal_frontal_lobe_epilepsy..0.805711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6024362665827317445GT308738BenignNocturnal_frontal_lobe_epilepsy..0.405150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6025362673827317987AG313911BenignNocturnal_frontal_lobe_epilepsy..0.365420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6026362682827318391CT313924BenignNocturnal_frontal_lobe_epilepsy..0.361420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6027362683827318425CA313926BenignNocturnal_frontal_lobe_epilepsy..0.359030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6028362685827318544AG313972BenignNocturnal_frontal_lobe_epilepsy..0.786741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6029362686827318635CG313930BenignNocturnal_frontal_lobe_epilepsy..0.781951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6030670757827321597GC662838Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6031668090827327841CG663394Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6032679135827328354GC663396Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6033362716827336767AT314020BenignNocturnal_frontal_lobe_epilepsy..0.106630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
603416603827373865GA31642risk_factorFamilial_hypercholesterolemia_1.0.115320.129590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6035516218827632143CT502718Benignnot_specified..0.466650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6036257053827641609GA253100Benignnot_specified0.976010.993320.977841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6037439766830554006GA433599Benignnot_specified0.405120.449410.423920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6038130763830924557CT136209BenignWerner_syndrome|not_specified|not_provided0.65370.703180.68730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6039130757830938704GA136203Benign/Likely_benignWerner_syndrome|not_specified|not_provided0.057510.075230.046920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6040256707830958353CTC253104Benign/Likely_benignWerner_syndrome|not_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6041130754830999122CT136200BenignWerner_syndrome|not_specified|not_provided0.386590.470430.3751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6042130761831024638CT136207Benign/Likely_benignWerner_syndrome|not_specified|not_provided0.28210.298910.273560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6043130762831024654TC136208Benign/Likely_benignWerner_syndrome|not_specified|not_provided0.227360.241640.192691|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6044732415836780142GA736637Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6045679568837606963CT663338Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6046362826838000267TC314123BenignCongenital_adrenal_hyperplasia..0.550520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6047448532838003787TC441233Benignnot_specified0.976470.979580.965661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6048362920838326161GA314238BenignCraniosynostosis|Hypogonadism_with_anosmia|Pfe.....0.956871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6049259175838884342GGTTCT253109Benignnot_specified|Cone-Rod_Dystrophy,_Recessive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6050362954841511157AC309065Likely_benignSpherocytosis,_Dominant..0.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6051261317841519462AG253111Benign/Likely_benignSpherocytosis_type_1|not_specified|Spherocytos...0.749890.780470.786340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6052261316841525914CT253112Benign/Likely_benignSpherocytosis_type_1|not_specified|Spherocytos...0.23120.213390.194690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6053261315841529856AG253113BenignSpherocytosis_type_1|not_specified0.97232.0.977641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6054261301841553928CG253125Benign/Likely_benignSpherocytosis_type_1|not_specified|Spherocytos...0.36285.0.407150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6055261319841583294CT253139Benign/Likely_benignnot_specified|Spherocytosis,_Dominant0.102080.13820.105030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6056587815841794934CT579425BenignHistory_of_neurodevelopmental_disorder0.300550.205210.209470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6057402969842175303AT389785Benignnot_specified0.753420.853210.695291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6058363099842397004CT305384BenignIdiopathic_basal_ganglia_calcification_1..0.693690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6059363113842692419TC309195Likely_benignDystonia..0.018570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6060684160843024625TG663400Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6061684171843046395GA663401Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6062684173843047156GC663358Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
606396501843047593GA102395BenignMucopolysaccharidosis,_MPS-III-C|not_specified...0.248970.30720.225240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
606496503843054553TC102397BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.990660.99740.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6065363174843056513TC305420BenignSanfilippo_syndrome..0.821891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6066379395848846519TC371924Benignnot_specified0.962270.959850.983631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6067363238848885436TA314652BenignNatural_killer_cell_and_glucocorticoid_deficie...0.872980.866860.914140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6068403354852284654CCAA,CA390587Benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
6069403355852321238GA389834Benignnot_specified0.010890.011280.005791/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6070403356852321243TC389843Benignnot_specified0.80876.0.831871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6071403357852366200GA389863Benignnot_specified0.825390.874480.746011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
60725969855539395AT21008Benign/Likely_benignHypertriglyceridemia,_susceptibility_to|not_sp....0.347510.251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
607395357855542540GA101256Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Dominant0.31475.0.215661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6074363327857870847TC309408BenignChondrodysplasia..0.882391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6075363378857874701CT309475Uncertain_significanceChondrodysplasia..0.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6076128540861178574TC133989BenignHistory_of_neurodevelopmental_disorder|not_spe...0.528220.427930.5010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6077158324861655690GA168596Benignnot_specified0.762480.811910.827081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
60782030861690321AG17069Uncertain_significanceScoliosis,_idiopathic_3..0.860621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6079676809861693412CA663362Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6080158325861707725GA168598Benignnot_specified0.822610.831590.896971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6081260894861713126AATGGACT253153Likely_benignnot_specified0.746290.795360.828671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6082676842861713231CA663354Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6083673326861729273TG662852Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6084158326861732521AG168600Benignnot_specified0.77990.825880.852841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6085676810861748415GA662859Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6086673327861750002AG662860Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6087158327861750860AG168612Benignnot_specified0.766280.813720.839061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6088667608861758254GA663355Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6089676811861764076AG662865Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6090676812861764389GT663411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6091667609861767390GC663419Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6092676813861773285CT663422Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6093363501861779681AC305684BenignHypogonadism_with_anosmia|CHARGE_association..0.50041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6094363502861779936TG315016BenignHypogonadism_with_anosmia|CHARGE_association..0.495811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6095363511861780220TC305698BenignHypogonadism_with_anosmia|CHARGE_association..0.737621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6096363513861780289CT309718BenignHypogonadism_with_anosmia|CHARGE_association..0.496211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
609792872863978658TAT98779BenignAtaxia_with_vitamin_E_deficiency|not_specified......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6098379640867976750CG371950Benignnot_specified0.029520.029290.014180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6099363596868334411TC309773Likely_benignFamilial_temporal_lobe_epilepsy_2..0.013380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6100128847868396915TC134295Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2|not_specifie...0.12410.112350.079070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6101128846868421768GC134294Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2|not_specified0.059710.094390.089060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6102128845868536470AG134293Benign/Likely_benignFamilial_temporal_lobe_epilepsy_2|not_specifie...0.264040.235960.232230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6103369613868658633CT353842Likely_benignFamilial_temporal_lobe_epilepsy_2..0.604630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6104225954869389217CG227767drug_responseirinotecan_response_-_Toxicity/ADR..0.683510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6105363624872109994CT315067BenignOtofaciocervical_syndrome_1|Branchiootorenal_S.....0.987821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6106363687874888494CT315216BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficie...0.244460.354520.216650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6107675845874890798AG662875Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6108203986874893628TG200170Conflicting_interpretations_of_pathogenicityMitochondrial_Complex_V_(ATP_Synthase)_Deficie....0.00011.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6109363693874893880CT315225BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficie...0.465090.494570.475040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6110363712874894748AG315245BenignMitochondrial_Complex_V_(ATP_Synthase)_Deficie.....0.216250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6111681267875262536GT663492Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6112695131875262798GC684027Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6113670530875262841GA663407Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6114681269875263943CTTC662880Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6115681275875272727CA662881Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6116681276875273933AG663412Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6117261065875274141TG253176BenignCharcot-Marie-Tooth_disease_type_2K|Charcot-Ma...0.253730.27740.219250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6118681294875274331CATC663509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6119670531875275312CT662885Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6120363721875276959AG315149BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.233420.233430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6121363727875277399AG315268BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.987570.989821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6122363728875277432CG315275BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.233370.233430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6123363752875278457AG315173BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.241260.266770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6124363753875278480GT305869BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.227550.233631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6125363758875278816AG315188BenignCharcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch....0.232930.229430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6126363772877892834AT305894BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.517971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6127363777877893120TC305899BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.954271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6128363798877894303TC315255BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.985821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6129363804877894770AG305926BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.954271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6130167455877895865AG177936BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.989160.987780.996211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6131369615886376130AT353844BenignOsteopetrosis_with_renal_tubular_acidosis..0.99881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6132254787886389403TC253178BenignOsteopetrosis_with_renal_tubular_acidosis|not_...0.643090.58930.577680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6133369616887586151AG353845BenignAchromatopsia|Stargardt_Disease,_Recessive..0.856231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6134363844887586393GT305952BenignAchromatopsia|Stargardt_Disease,_Recessive..0.536741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6135291003887638279TC275240Conflicting_interpretations_of_pathogenicitynot_provided0.000460.00051.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
613695929887666251TG101825BenignAchromatopsia|Achromatopsia_3|not_specified|St...0.64059.0.679710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6137261090887679303AC253186BenignAchromatopsia|Achromatopsia_3|not_specified|St...0.87860.894610.957471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6138363882887680406GGA305979Benign/Likely_benignAchromatopsia|Stargardt_Disease,_Recessive|not......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6139363896890946056AG310029BenignMicrocephaly,_normal_intelligence_and_immunode.....0.335461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6140363898890946601TG310032BenignMicrocephaly,_normal_intelligence_and_immunode.....0.335261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6141363905890947269CG315495BenignMicrocephaly,_normal_intelligence_and_immunode.....0.330271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6142363909890947537CT315368BenignMicrocephaly,_normal_intelligence_and_immunode.....0.321881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6143258769890955624TA253191Benignnot_specified0.313930.353460.379190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6144183696890958422TC182835BenignHereditary_cancer-predisposing_syndrome|Microc...0.284190.345050.352840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6145258768890958530TC253192BenignHereditary_cancer-predisposing_syndrome|Microc...0.313130.352940.378990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6146183701890967711AG182857BenignHereditary_cancer-predisposing_syndrome|Microc...0.490310.467590.608630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6147199080890970935GA196239BenignHereditary_cancer-predisposing_syndrome|not_sp...0.284480.344590.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6148134876890990479CG138615BenignHereditary_cancer-predisposing_syndrome|Microc...0.286560.345270.357030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6149183697890995019CT182905BenignHereditary_cancer-predisposing_syndrome|Microc...0.313160.352720.379190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6150126307894792887GA131839Benignnot_specified|not_provided0.010610.014510.010380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
615196528894794620CT102422BenignNephronophthisis|Joubert_syndrome|Meckel-Grube...0.638650.634050.715060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6152126301894808165AG131833BenignNephronophthisis|Joubert_syndrome|Meckel-Grube...0.640420.636940.692890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6153369617894929079TA353846BenignPyruvate_dehydrogenase_phosphatase_deficiency..0.496610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6154363945894935937TC315572BenignPyruvate_dehydrogenase_phosphatase_deficiency0.404850.467570.495210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6155363952894936532GC306040BenignPyruvate_dehydrogenase_phosphatase_deficiency..0.593850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6156681229896044042TC662926Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6157676241896044076GA663529Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6158681230896046951AG663455Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6159671643896047470CTTC663427Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6160559318896047806TTAA,TA549952Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
6161681196896058218GA662929Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6162256850897157792GC253216Benignnot_specified0.03232.0.037740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6163681299897172403AG663547Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6164684319897247469AG663434Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61652626578100133706TG253219BenignCohen_syndrome|not_specified0.755650.750350.705071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61662626528100861146GA253228BenignCohen_syndrome|not_specified0.248580.177660.223640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6167958218100865836GA101718Benign/Likely_benignCohen_syndrome|History_of_neurodevelopmental_d...0.11964.0.111020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61683611018100888141CCCAA315548Likely_benignCohen_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61693611068100888322CTATC315735BenignCohen_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61703611078100888489CCTT310296Likely_benignCohen_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61713611088100888592CTGAC310304BenignCohen_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61723611238100889677CT306190BenignCohen_syndrome..0.205670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61732628048101203737TC252991Benignnot_specified0.1580.197920.150560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61742628058101206391GA252992Benignnot_specified0.157850.198580.150560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61752210088101206459AAGAC221749BenignCiliary_dyskinesia,_primary,_28|not_specified0.156810.199070.150360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61764109958101251617AT396533Likely_benignnot_provided0.001310.00105.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61772628028101252680TC252995Benignnot_specified0.637550.617910.62740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61785080978102504974CG501889BenignCORNEAL_DYSTROPHY,_POSTERIOR_POLYMORPHOUS,_4|n...0.998540.974260.961261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61797682528103573001CG700327Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61801001438105459793CA106020not_providednot_provided..0.597841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61811001448105463690AG106021not_providednot_provided..0.37641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61822601778106573578CT252998Benignnot_specified0.68269.0.720250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61833615198116421434GC312576BenignTrichorhinophalangeal_Syndrome..11|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61843615378116421936AC307528BenignTrichorhinophalangeal_Syndrome..0.613020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61853615608116423424TC312625BenignTrichorhinophalangeal_Syndrome..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61863615618116423490AT312569BenignTrichorhinophalangeal_Syndrome..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61873615828116424270AAC307545BenignTrichorhinophalangeal_Syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61883616018116425860AG312701BenignTrichorhinophalangeal_Syndrome..0.545530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61892603318116599199TG253013Benignnot_specified0.6704.0.771370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61902603298116635872TTA253016BenignTrichorhinophalangeal_Syndrome|Trichorhinophal...0.299440.37519.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61913616348116635942CT304025BenignTrichorhinophalangeal_Syndrome..0.68670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61923616418116680944AAGAGAGA312678Uncertain_significanceTrichorhinophalangeal_Syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61936691088117860152TC663116Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61946691068117861516TC663124Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61951598058117864217AG168582BenignHistory_of_neurodevelopmental_disorder|not_spe...0.12410.172770.133190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61961598098117866718AG168583Benign/Likely_benignnot_specified0.004920.003930.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61976686138117870375AG663141Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
619810008118184783CT16039risk_factorDIABETES_MELLITUS,_TYPE_2,_SUSCEPTIBILITY_TO.0.284890.255190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
61992551758118819578CT253019Benignnot_specified|Hereditary_Multiple_Osteochondro...0.351070.397360.338461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62002551728118832020GA253022Benignnot_specified|Hereditary_Multiple_Osteochondro...0.164310.17460.120210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62011962158118847782GA193376BenignMultiple_congenital_exostosis|not_specified|He...0.246040.259580.173920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62021963498119941173AG193510BenignHyperphosphatasemia_with_bone_disease|not_spec...0.936650.933930.923721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62032587758119964052GC253030BenignHyperphosphatasemia_with_bone_disease|not_spec...0.588920.602410.666731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62043617028119964283GA307683BenignHyperphosphatasemia_with_bone_disease..0.62161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62058024388125570144GA790778BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62068024398125579990CT790779BenignMITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62076838158126040573CT663207Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62086838128126049191AG663162Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62096828228126050879CT663167Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62106710658126052488TC663125Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62115166508126056215GGC502579Benignnot_specified0.999840.9999711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62126698988126061712CT663170Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62136707238126068197TC663216Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62146828198126079772AT663133Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62153808268126085586GA370065Benignnot_specified0.162770.233010.225440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62166698598126096595TC663135Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62173617458133133361CT312763BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62183617578133134288GA312809BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62193617598133134366TC307788BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62203617618133134390GA312820BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62213617638133134434TC304178BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.134780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62223617648133134476AG312821BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.134780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62233617668133134553TC304180BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62243617678133134635GC307793BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.134780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62253617768133135169CT312838BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.139180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62263617848133135577TG307838BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.135180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62273617998133136551TC312891BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.722840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62283618028133136762CCCTGT304197BenignBenign_Neonatal_Epilepsy|Benign_familial_neona......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62293618098133137266TA307864BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.286340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62303618148133137532CT312923BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.31090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62313618238133137912CT312925BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.720850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62323618338133138474TC304229BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.143170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62333618348133138477TC312958BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.293130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62343618468133139755GA312980BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.268570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62356705918133142310GC663175Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62366749918133142353GA663144Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62376708838133150103CT663183Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62386837368133175446AG663160Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62396748978133459549AG663187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62403618978133492921CA313040BenignBenign_Neonatal_Epilepsy|Benign_familial_neona.....0.227441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62416837338133493283TC663202Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62426837318133493335AC663208Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62432602788133637659GA253039BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.55820.419050.486220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6244299068133877623AG38861risk_factorAutoimmune_thyroid_disease_3..0.592450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6245126978133900252TG27736Benign/Likely_benignThyroid_dyshormonogenesis|Autoimmune_thyroid_d.....0.676320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62462589898133900386TC253046Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.58650.582940.672720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6247126988133909974AG27737Benign/Likely_benignThyroid_dyshormonogenesis|Autoimmune_thyroid_d....0.584170.674920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62482589928133920411TC253049Benignnot_specified0.461480.570610.397760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62492589938133920518AG253050Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.461630.569720.398760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62502589948133931748TC253051Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.539910.591470.473840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62512589968133975283GA253052Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.37890.48460.346850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6252126968133984058CT27735Benign/Likely_benignThyroid_dyshormonogenesis|Autoimmune_thyroid_d....0.322620.332470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62532590008134108453CT253056Benign/Likely_benignThyroid_dyshormonogenesis|not_specified0.378830.434710.344650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62542590018134108546TC253057BenignThyroid_dyshormonogenesis|not_specified0.614720.502370.522360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62552590028134125682GA253058BenignThyroid_dyshormonogenesis|not_specified0.57420.497590.537340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62563620158134250165AG313152BenignCharcot-Marie-Tooth_disease_type_4..0.830270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62576676478134254051AG662665Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62586734308134256315CT663201Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62596676498134258711AG663210Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62601384338134260948AG142136BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.047670.090430.092650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62616676448134262532TC663213Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62626676418134274226CG663290Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62636676408134292288TC662705Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62642599168134292516AG253060BenignCharcot-Marie-Tooth_disease,_type_4D|Charcot-M...0.667850.563490.613421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62653695958140624798AAG353824BenignBirk-Barel_Intellectual_Disability_Dysmorphism.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62663620748141034189AT308163BenignIntellectual_Disability,_Recessive0.571580.630850.538341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62671306268141262869CT136072Benignnot_specified|Intellectual_Disability,_Recessive0.099720.123240.071690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62681306258141263015GA136071BenignHistory_of_neurodevelopmental_disorder|not_spe...0.099720.123680.071290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62697682678141561393GC777712Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62706914058142170884CT679171Uncertain_significanceHirschsprung_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62716914828142200467GA679172Uncertain_significanceHirschsprung_disease...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62723621898143993157AG304553BenignHyperaldosteronism,_familial,_type_I|Corticost.....0.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62733621918143993315CT304554BenignHyperaldosteronism,_familial,_type_I|Corticost.....0.132191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62743622078143995761CT308315BenignHyperaldosteronism,_familial,_type_I|Corticost...0.969320.909390.823481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62752631358144808747GA253062BenignAmelogenesis_imperfecta,_hypocalcification_typ...0.64820.681530.529151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62762631338144809804GA253064BenignAmelogenesis_imperfecta,_hypocalcification_typ...0.865830.949920.823281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62772631328144810138GA253065Benignnot_specified0.08090.276690.165940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6278930128144990335GA98919Benignnot_specified.0.430740.238220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6279930338144990528AG98940Benignnot_specified0.540660.419130.477040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6280930308144991176TC98937Benignnot_specified0.565540.418990.478440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6281930258144992103TC98932Benignnot_specified|not_provided0.58820.434320.490420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6282930238144992361TC98930Benignnot_specified0.568380.427490.478240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6283930228144992862AG98929Benignnot_specified0.53453.0.446090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6284930208144993324CT98927Benignnot_specified0.302090.34510.234030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6285930188144993377AG98925Benignnot_specified|not_provided0.56213.0.471850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6286930898144994888GA98996Benign/Likely_benignnot_specified0.053370.056850.027560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6287930878144995494CT98994Benignnot_specified0.307970.344370.230630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6288930848144995736GA98991Benignnot_specified0.302110.344630.230230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6289930838144996029AG98990Benignnot_specified0.563160.408510.466650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6290930788144996408TG98985Benignnot_specified0.295040.42970.231030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62912561788144996598GA253068Benignnot_specified|not_provided0.297950.344780.230630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
62922561778144996635GA253069Benignnot_specified|not_provided0.294270.343210.230630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6293930738144997656CT98980Benignnot_specified0.288680.353550.230230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6294930718144997927GA98978Benignnot_specified|not_provided0.261710.465150.230630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6295930688144998169CT98975Benignnot_specified0.269920.363150.230830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6296930678144998190AG98974Benignnot_specified0.276120.361580.230830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6297930568144999417CT98963Benignnot_specified0.268150.375860.230830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6298930528144999621CT98959Benignnot_specified|not_provided0.271470.32950.224840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6299930518144999642AC98958Benignnot_specified0.27987.0.232630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6300930508144999684AG98957Benignnot_specified0.240510.335650.232630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6301930498145000056TC98956Benignnot_specified0.220960.391230.231030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63026679118145000221GA663307Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63036836938145000321CT663236Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63046679098145000740GA663240Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63056678918145000809GA663226Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63066678898145000898AG663314Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63071299478145001031TC135393Benignnot_specified0.561590.412770.466650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63086678878145001300TA663229Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63096678858145001311TC663235Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63102561758145001372TC253071Benignnot_specified|not_provided0.307690.34380.231030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6311930478145001509TC98954Benignnot_specified0.302180.343720.230830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6312930468145001588CT98953Benignnot_specified0.307520.348950.230830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6313930448145001784AG98951Benignnot_specified0.264980.368710.230830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63146678818145002283AG662711Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63156836928145002431CG663245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63162561738145003777GA253073Benignnot_specified|not_provided0.29420.335430.225240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63171956548145004474GA192815Conflicting_interpretations_of_pathogenicitynot_specified|not_provided0.001810.001510.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63181299388145004546GA135384Benignnot_specified0.698770.741060.571890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63196679218145004944TC662716Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63206836908145005450TC663257Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6321930388145005688AAC98945Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6322930358145006790TC98942Benignnot_specified0.381480.359850.327480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63231299348145007187GA135380Benignnot_specified0.289560.366870.231430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63242270188145007534CT231312Benignnot_specified0.467120.380440.398360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63256679188145007947GA662720Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63266679178145007989AG663316Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63276679158145008342CA663248Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63282561708145008443AT253075Benignnot_specified|not_provided0.295670.33010.232030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63291299288145008560AG135374Benignnot_specified0.292470.330220.231430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63306679128145008706CT662733Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63312561688145008931GC253076Benignnot_specified|not_provided0.46196.0.393370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63326678928145009593AC663266Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63336678908145009610AG663250Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63346678888145010305AG663258Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63351299498145011204AG135395Benignnot_specified|not_provided0.29234.0.232430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63366678868145012206GA663269Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63376678848145012466AG662737Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63382561718145012777CG253077Benignnot_specified|not_provided0.29434.0.230430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63396678808145013315GT663274Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63406678778145013345CT663318Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63416678608145013893CG663283Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63426836888145013949CT663268Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63436836868145013987CCAG663323Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63443799598145150101TG370173Benignnot_specified|not_provided.0.879310.889581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63454034338145158446CT389762Benignnot_specified0.917890.946260.884591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63464034348145158503GT389779Benignnot_specified0.91490.947160.884781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63474034358145160646TC389855Benignnot_specified0.948560.984870.953281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63484025878145541766GT390517Benignnot_specified0.072320.068130.035940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63494025888145542021GA390518Benignnot_specified0.053710.049580.023360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63503808728145582839TC371714Benignnot_specified..0.457270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63514034598145640411AG390475Benignnot_specified0.966550.967820.984631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63522591998145699601TC253080BenignHoloprosencephaly_sequence|not_specified0.995780.970850.945691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6353948948145737286GA100794Benignnot_specified0.349970.466960.400561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6354948938145737514GA100793Benignnot_specified0.393250.506340.433311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63551675738145737636AG178005Benignnot_specified0.998410.972830.946091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6356948918145737816CT100791Benignnot_specified|not_provided0.341910.46120.384391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6357948908145738349GT100790BenignBaller-Gerold_syndrome|not_specified0.006440.011140.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6358948868145739924GA100786Benignnot_specified0.350520.480160.394571|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6359948848145741130CT100784Benignnot_specified0.364960.471560.400961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6360948988145741702CG100798Benignnot_specified|not_provided0.391870.437710.447681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6361948978145741765GA100797Benignnot_specified|not_provided0.339160.439430.370010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63621351618145742514AG138900Benignnot_specified0.995170.973320.943291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6363948858145742879TC100785Benignnot_specified|not_provided0.550690.555220.575081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63644033698145745182TC389833Benignnot_specified0.9990.973980.947681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63656732709215057TC664229Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63666769019215269AC663725Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63676738829271455TC663757Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63681371559271638CT140858BenignHyperimmunoglobulin_E_recurrent_infection_synd...0.318880.324490.307711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63691787669286593CA175103BenignHyperimmunoglobulin_E_recurrent_infection_synd...0.464250.520630.529750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63706732719316998CT663777Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63716768439317370GC664271Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63726676659325993GA664316Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63732632719328006TC253508Benignnot_specified0.66838.0.695891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63741631749334337AG174691Benignnot_specified|Hyper-IgE_syndrome0.282020.248790.199681|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63756696699337045GC664571Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63766768449367887AT664347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63771371379370244AG140840Benignnot_specified|Hyper-IgE_syndrome0.251810.222560.215860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63786732739370370GC663824Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63796768209370439GA663828Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63806768459370531AG664353Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63816748659376122CT664386Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63826732749376179TA664377Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63836768219376538GT664379Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63841371399377111GC140842Benignnot_specified|Hyper-IgE_syndrome0.266570.233160.228630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63856750269380035GT664646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63866768469382294TC664652Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63876768369382390TC664400Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63886768519386094TG663847Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63896732909386559AC664407Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63901371419390512CT140844Benignnot_specified|Hyper-IgE_syndrome0.285020.234440.254990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63916732919390636AG663849Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63926738839396712TA664665Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63936738849397050AT663861Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63946676669398865AG664410Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63953669699399245CA319385Conflicting_interpretations_of_pathogenicityHyper-IgE_syndrome|not_provided0.000310.000720.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63961787699421032CG175111BenignHyperimmunoglobulin_E_recurrent_infection_synd...0.46263.0.391771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63971787709429719TC174698Benignnot_specified0.996770.997830.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63986676679430114CG664678Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
63996676809431848AG663875Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64006676819431860TC663876Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64011631769432330CG174825Benignnot_specified|Hyper-IgE_syndrome0.669230.757710.714261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64026676829432625AG664429Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64036676839432628GT664421Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64041631779433978AG174549Benignnot_specified|Hyper-IgE_syndrome0.674920.758780.721051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64051787719441952GA174550BenignHyperimmunoglobulin_E_recurrent_infection_synd...0.742890.820060.803911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64066676849442272GC663878Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64072632709446352GC253561Benignnot_specified0.55828.0.632991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64083671029464920GA308579BenignHyper-IgE_syndrome..0.856031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64097170269744505GA723621Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641080245692170512GC790886BenignNicolaides-Baraitser_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641136634192193437TC318557Likely_benignNicolaides-Baraitser_syndrome..0.018770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641236634292193455AG317990Likely_benignNicolaides-Baraitser_syndrome..0.010980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641366758092621482CG664235Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641436635292622121AG318001BenignCongenital_cerebellar_hypoplasia|not_provided..0.81231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641536635492622134CT318566BenignCongenital_cerebellar_hypoplasia..0.30991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641629049392622146ACGGCGGCGGA274730Conflicting_interpretations_of_pathogenicityCongenital_cerebellar_hypoplasia|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641713071392622278GA136159BenignCongenital_cerebellar_hypoplasia|not_specified.0.321380.294930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641866758192622547CT664287Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
641966758292622554TC664526Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642066758392635116GC664531Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642113070192644954CT136147Likely_benignCongenital_cerebellar_hypoplasia|not_specified0.15378.0.081670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642267439792645109GA664300Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642367439892645773TG664545Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642467083192647760AG664240Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642513070792648773AG136153Likely_benignCongenital_cerebellar_hypoplasia|not_specified0.140090.1450.073880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642667083292650264TG663741Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642767229892651340AG663743Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642813070992651962GT136155BenignCongenital_cerebellar_hypoplasia|not_specified0.255270.188010.171730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
642967229992652589CT664248Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643036638392654419TC307997Likely_benignCongenital_cerebellar_hypoplasia..0.095850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643136640292717676TG318131BenignCone_dystrophy_3..0.197281/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643236640392717698CG312358BenignCone_dystrophy_30.589730.612650.671931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64339635792717922CG102251BenignCone_dystrophy_3|not_specified0.587960.611590.660341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
64349636292718534CG102256BenignCone_dystrophy_3|not_specified0.435620.489580.480031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643536648292729989TA318746Likely_benignCone_dystrophy_3..0.057710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643636689193824934AATA,AA319285BenignDiabetes_mellitus,_neonatal,_with_congenital_h......1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
643736689793825015TC308373Uncertain_significanceDiabetes_mellitus,_neonatal,_with_congenital_h.....0.006390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643836691293825540CT318680BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.793131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
643936691693825812GA308391BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.953081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644036692993826471TTG318714BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.967651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644136693593826710TG318738BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.343650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644236693893827075CG318750BenignDiabetes_mellitus,_neonatal,_with_congenital_h.....0.386581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644336694693827607AAT319366BenignDiabetes_mellitus,_neonatal,_with_congenital_h......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644412916094118111GT134606BenignDiabetes_mellitus,_neonatal,_with_congenital_h...0.669270.672990.676121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644512915994118208AG134605BenignDiabetes_mellitus,_neonatal,_with_congenital_h...0.998720.999730.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644636703994544640TC308515Conflicting_interpretations_of_pathogenicityDicarboxylic_aminoaciduria|not_provided0.007770.006670.003390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644736704294564432GA319503BenignDicarboxylic_aminoaciduria0.356370.397070.328280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644836708494586808GC308540BenignDicarboxylic_aminoaciduria..0.228040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
644936711494985542TC318934BenignBudd-Chiari_syndrome..0.290740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645036712295050706CT318940BenignBudd-Chiari_syndrome|not_specified0.356450.325690.358230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645136712995081780GA319566BenignBudd-Chiari_syndrome|not_specified0.624250.532750.616810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645236714995127974AACAT308609Likely_benignBudd-Chiari_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645377350895812883AG777823Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645425545496553514AAT253564Benign/Likely_benignNon-ketotic_hyperglycinemia|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645525545996610326CT253566BenignNon-ketotic_hyperglycinemia|not_specified|not_...0.23620.242410.192091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
645678302798404607GA712042Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6457256642912704725CT253304Benignnot_specified0.44118.0.220850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6458256643912708958TTA253305Benignnot_specified0.51998.0.259780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6459364861912709305CA316831BenignOculocutaneous_albinism..0.2520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6460364863912709474ATAAGA310952BenignOculocutaneous_albinism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6461364865912709586AT310966BenignOculocutaneous_albinism..0.241010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6462364867912709648AAATTA316559BenignOculocutaneous_albinism...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6463364872912710035AC316849BenignOculocutaneous_albinism..0.261581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6464364873912710090TC316569BenignOculocutaneous_albinism..0.272561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6465211516913125201TC207631Benignnot_specified0.615750.664710.556911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6466366056914735053TC312029BenignMarles_Greenberg_Persaud_syndrome..0.43570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6467366057914735064GC312034BenignMarles_Greenberg_Persaud_syndrome..0.556310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6468366059914735074TG318188BenignMarles_Greenberg_Persaud_syndrome..0.578280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6469366061914735140TC312051BenignMarles_Greenberg_Persaud_syndrome..0.130590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6470366063914735187CT318193Likely_benignMarles_Greenberg_Persaud_syndrome..0.088660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6471366066914735529AG312062BenignMarles_Greenberg_Persaud_syndrome..0.723441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6472366071914735694AG318200BenignMarles_Greenberg_Persaud_syndrome..0.723041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6473366075914736005TTA317706Likely_benignMarles_Greenberg_Persaud_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6474366079914736138AT307789Likely_benignMarles_Greenberg_Persaud_syndrome..0.06270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6475366085914736409AC317732Likely_benignMarles_Greenberg_Persaud_syndrome..0.055710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6476262545914737506TG253486BenignMarles_Greenberg_Persaud_syndrome|not_specified0.752570.738550.735021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6477262543914770658GT253488BenignMarles_Greenberg_Persaud_syndrome|not_specified0.362530.326810.254191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6478262542914775853AG253489BenignMarles_Greenberg_Persaud_syndrome|not_specified0.865080.867850.847241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6479262541914775859GA253490BenignMarles_Greenberg_Persaud_syndrome|not_specified0.519160.510060.416731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6480262539914776027CT253492Benign/Likely_benignMarles_Greenberg_Persaud_syndrome|not_specified0.161140.134060.106431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6481262538914801687TC253493BenignMarles_Greenberg_Persaud_syndrome|not_specified0.177670.21760.176921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6482262537914801710CA253494BenignMarles_Greenberg_Persaud_syndrome|not_specified0.267840.324310.259980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6483262536914806848CA253495BenignMarles_Greenberg_Persaud_syndrome|not_specified0.191260.280860.151761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6484366142914813072GA312147Likely_benignMarles_Greenberg_Persaud_syndrome0.032750.03030.019570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6485262535914819370GT253496BenignMarles_Greenberg_Persaud_syndrome|not_specified0.20540.230260.164141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6486262534914846036CG253497BenignMarles_Greenberg_Persaud_syndrome|not_specified0.567140.600870.50080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6487262546914851617TC253498BenignMarles_Greenberg_Persaud_syndrome|not_specified0.727470.80540.769571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6488366172914859356TC318323BenignMarles_Greenberg_Persaud_syndrome0.150760.210010.24840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6489366182914869110CG318337BenignMarles_Greenberg_Persaud_syndrome..0.228440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6490120236916435714TC125830not_providedHypotension0.10341.0.078870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6491402871920764870TC389806Benignnot_specified0.350840.324270.280950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6492402872920885240GA389891Benignnot_specified0.57028.0.603831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6493402873920988426AG389813Benignnot_specified0.742970.742390.768570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6494366256921862271AC317926BenignDiaphyseal_medullary_stenosis_with_malignant_f.....0.469850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6495366317921865929CT307951Likely_benignDiaphyseal_medullary_stenosis_with_malignant_f.....0.010980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6496366434927202870AG318153BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.446260.464880.414340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6497518397927203134AG508837BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.4471.0.414940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6498366439927205021GA318674BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.211290.211370.150960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6499366450927220066GA312397BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.22459.0.224240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6500366455927229141TC318689BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma...0.211130.172370.223040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6501366478927230152GA318732BenignMultiple_Cutaneous_and_Mucosal_Venous_Malforma.....0.201680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
650295315932541532AG101214Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Dominant0.204680.185190.114220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
650395313932542204AG101212Benign/Likely_benignnot_specified|Retinitis_Pigmentosa,_Dominant0.179380.207510.179110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6504214123932974570GGA211373Benignnot_specified|Ataxia_with_Oculomotor_Apraxia|C......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6505366647933113196GT318951BenignCongenital_disorder_of_glycosylation..0.948481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6506208122934635598TC204389Uncertain_significanceAmyotrophic_lateral_sclerosis_16,_juvenile0.98655.0.987421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6507402843934724059GA389913Benignnot_specified.0.269090.400960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6508260123935060955TC253528Benignnot_specified0.761730.746080.701880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6509260128935062972CT253532Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.759420.744180.701080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6510259478935077441TC253537Benignnot_specified0.761880.745890.701480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6511366742935079913TC319080BenignFanconi_anemia..0.12580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6512366744935079973TTA312648BenignFanconi_anemia..0.206470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6513366746935080011CA308268BenignFanconi_anemia..0.12580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6514366751935089048AC312668BenignHyperphosphatasia-intellectual_disability_synd...0.982320.994960.984031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6515670827935089498GA664322Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6516262093935093020TC253543BenignHyperphosphatasia-intellectual_disability_synd...0.518990.544030.474040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6517670826935093849GA664331Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6518262100935094373GA253544Benignnot_specified0.04867.0.12620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6519780046935397166CG711959Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6520138922935658062GT142625Benignnot_specified.0.475920.486820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6521138920935658072AG142623Benignnot_provided..0.304510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
652294123935684822CCG100023Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6523140484935689373TC150162Benignnot_provided..0.480031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6524679869935690102AG664346Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6525516643935739115GGC502951Benignnot_specified0.692470.687470.710460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6526366776935792423TC312693BenignAcromesomelic_Dysplasia0.288230.238540.31350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6527366787935802583CT312716BenignAcromesomelic_Dysplasia0.28810.231460.31250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6528366804936214971GA312726BenignSialuria|GNE_myopathy|Inclusion_Body_Myopathy,.....0.569290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6529366811936215581CT319172BenignSialuria|GNE_myopathy|Inclusion_Body_Myopathy,.....0.133590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6530366825936216426GA312748BenignSialuria|GNE_myopathy|Inclusion_Body_Myopathy,.....0.300320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6531681355936217798GA663808Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6532681354936218018CG664336Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6533681770936218377CG664337Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6534681839936220134TC663809Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6535681838936222649CG664354Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6536671400936223801CT663814Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6537681753936246594TC664345Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6538257526936276857AG253556Benignnot_specified|not_provided0.786120.727530.651761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6539672297936277171CT664629Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6540134998936840623GA138737not_providednot_specified0.763120.868670.742011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6541204220937426524CT200625BenignPrimary_hyperoxaluria|Primary_hyperoxaluria,_t...0.922110.976420.919531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6542204222937429661AG200633Uncertain_significancePrimary_hyperoxaluria,_type_II.0.893440.852041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
654321490937429814AG34342BenignPrimary_hyperoxaluria|Primary_hyperoxaluria,_t...0.856990.892460.849241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6544136360938395940TC140063Benignnot_specified0.920810.954160.93671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6545136362938396065GT140065Benignnot_specified0.50331.0.394970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6546136365938396502GA140068Benignnot_specified0.921880.953930.93851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6547768301943828112AG706378Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6548129120971650752AG134566BenignFriedreich_ataxia_1|not_specified|Cardiovascul....0.999340.984821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6549196398971831398TC193559Benignnot_specified0.903810.920890.894171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
655044091971843023CA53259Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.758040.811460.772170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6551259554971865932GA253576Benignnot_specified0.405040.370420.359820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6552367237971869473GA319047Likely_benignNonsyndromic_Hearing_Loss,_Dominant.0.51830.456670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6553508095971990645CT503181Benignnot_specified0.305320.394920.31311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6554367245975136789GA313238BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.512180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6555367250975231370AG308681BenignNonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom.....0.539540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
655647874975303653CT57038Benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.527370.460950.510780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6557562091975404222GGA553260PathogenicDeafness,_autosomal_recessive_7...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
655847863975431076CT57027Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.102340.092720.048120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6559367300977376633AG319708BenignHypomagnesemia_1,_intestinal0.153080.101590.168730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6560367301977376647TC308709BenignHypomagnesemia_1,_intestinal0.235430.211230.294930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6561367314977407636CT319714BenignHypomagnesemia_1,_intestinal0.135090.235040.268370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6562367337979792438GC319772Likely_benignChoreoacanthocytosis..0.084460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6563367371979897117GA313352Likely_benignChoreoacanthocytosis0.11250.091550.083870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6564367399979952468AT319227BenignChoreoacanthocytosis0.154950.109430.12480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6565367402979954545TC319826Benign/Likely_benignChoreoacanthocytosis|not_provided0.208750.181910.162740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6566367404979955305AAT319827Likely_benignChoreoacanthocytosis...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6567367428979986057AG319242BenignChoreoacanthocytosis|not_provided0.39766.0.415140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6568367437980031144GA308831Likely_benignChoreoacanthocytosis..0.165340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6569367445980031946CT308846BenignChoreoacanthocytosis..0.575680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6570367449980032300CA319255BenignChoreoacanthocytosis..0.24940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6571517538980851350GC497120Benignnot_specified0.301260.419160.283750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6572517539980851527GA497057Benignnot_specified0.312130.371640.283950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6573367450980912115GC319878BenignPhosphoserine_aminotransferase_deficiency0.801140.790090.760380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6574367454980919756TG313452BenignPhosphoserine_aminotransferase_deficiency0.635630.621970.49940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6575403012986468715AT389874Benignnot_specified0.69591.0.653161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6576403013986474115TC389828Benignnot_specified0.140270.122770.120810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6577403016986518796TC389912Benignnot_specified0.140320.122570.120810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6578683368993982932CT664439Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6579683351994124414TC664444Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6580367493994485768GCTCTG319315BenignBrachydactyly|Robinow_syndrome,_autosomal_domi......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6581199097994485928CT196256BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.719740.731360.757390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6582159818994486321CT168799BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.700740.710320.7480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6583159815994486688GA168802BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.432650.426780.415340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6584159821994495608TC168809BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.678840.63180.644971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6585259431994518328CT253585Benignnot_specified0.70060.675240.6231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6586159823994538115CG168811BenignBrachydactyly|Robinow_syndrome,_autosomal_domi...0.248960.235340.191690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6587367550994830356CA319975Benign/Likely_benignNeuropathy_hereditary_sensory_and_autonomic_ty...0.02061.0.011580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6588678245995477951GT663918Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6589670372995480251GA664457Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6590678244995481975CG664458Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6591670371995482536GC663925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6592678242995485323CCCCTGACA664462Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6593678240995491094TC663929Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6594678238995526667GC664697Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6595256318997365642GA253586Benign/Likely_benignFructose-biphosphatase_deficiency|not_specified0.505610.524440.487021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6596256326997365720TC253587BenignFructose-biphosphatase_deficiency|not_specified0.885280.863730.907151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6597256324997369083GA253589Benign/Likely_benignFructose-biphosphatase_deficiency|not_specified0.503080.526590.483231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6598256323997369149CT253590BenignFructose-biphosphatase_deficiency|not_specified0.954410.956070.976441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6599256321997372172CT253592Benignnot_specified0.409660.40150.344251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6600367618998205443CA320065Likely_benignHoloprosencephaly_sequence|Gorlin_syndrome..0.215260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
660141663998209594GA50102BenignHoloprosencephaly_sequence|Gorlin_syndrome|Her...0.29925.0.396771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6602255668998270646TTGCCGCC253618Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6603668604998279370TA664509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6604255510999006578TC253620Benignnot_specified0.296330.226620.18871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6605255509999013663AG253621Benignnot_specified0.880290.847980.867411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6606255508999064202CCA253622Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66071902069100459578TC187985BenignXeroderma_pigmentosum|not_specified0.74696.0.646370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6608950969100616583TC100996BenignBamforth_syndrome|not_specified0.802710.800530.882791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6609950989100617021CT100998BenignBamforth_syndrome|not_specified.0.686390.68610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66101321569101340316TC18370..0.186910.168580.161141/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66112628479101533220CT253637Benignnot_specified0.96304.0.87521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66122628519101558444GA253655Benignnot_specified.0.260530.12380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66132628439101558609GA253656Benignnot_specified.0.692310.265971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66141621709101908365TG171883not_providednot_provided..0.300920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66153641129101912471AG313819BenignLoeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th.....0.331870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66163641559101914387GA320250BenignLoeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th.....0.325880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66173641899101916165TG313875BenignLoeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th.....0.329870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66183642209102861613TG310311BenignNephronophthisis|not_specified..0.278750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6619955949103015184TC101492BenignNephronophthisis|Infantile_nephronophthisis|no...0.30970.322440.210460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6620955979103054951TC101495BenignNephronophthisis|Infantile_nephronophthisis|no...0.57389.0.407350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66212604149103059476AG253246Benignnot_specified0.64954.0.757990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66226747039103341014GA663440Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66233642679104123762GT310356BenignHypercholanemia..0.731430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66243642759104124664CT306252BenignHypercholanemia0.797940.788630.714060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66252575189104133628CT253251Benignnot_specified|Hypercholanemia0.63140.646110.56290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66263642889104182940TC306261BenignHereditary_fructosuria..0.49780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66273643069104184022GA315824BenignHereditary_fructosuria..0.441890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66283643419107544700CT306320BenignTangier_disease|Familial_High_Density_Lipoprot.....0.857631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66293643509107545129TAT310442BenignTangier_disease|Familial_High_Density_Lipoprot......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66303643519107545156GA310443BenignTangier_disease|Familial_High_Density_Lipoprot.....0.441090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66313643619107545903GA315940BenignTangier_disease|Familial_High_Density_Lipoprot.....0.445490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66323643989107562804TC315817BenignTangier_disease|Familial_High_Density_Lipoprot...0.585040.693630.538341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66333644519107602678GA306387BenignTangier_disease|Familial_High_Density_Lipoprot...0.09895.0.082070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
663495069107620867CT24545BenignTangier_disease|Coronary_heart_disease_in_fami....0.329940.43970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66353644609107624029CT315879BenignTangier_disease|Familial_High_Density_Lipoprot...0.32224.0.37240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66363644689107665978CG306401BenignTangier_disease|Familial_High_Density_Lipoprot...0.089170.178980.141770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66373644709107666035GGC316138BenignTangier_disease|Familial_High_Density_Lipoprot......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66383644819107690450GA316143BenignTangier_disease|Familial_High_Density_Lipoprot.....0.361220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66393696199107690535GC353848BenignTangier_disease|Familial_High_Density_Lipoprot.....0.787141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66403644849108335958GC316150Likely_benignFukuyama_congenital_muscular_dystrophy|Dilated.....0.166930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6641935229108366734GA99427Benign/Likely_benignFukuyama_congenital_muscular_dystrophy|Limb-gi...0.264570.244610.158150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66426801959108369060GA663471Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66436726959108370361TC663573Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66446711129108380004GA662952Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6645935109108380355CA99415Benign/Likely_benignFukuyama_congenital_muscular_dystrophy|Limb-gi...0.290880.251850.178320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66462834689108401923GAG267705Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66473645249108402586GA315938Uncertain_significanceFukuyama_congenital_muscular_dystrophy|Dilated.....0.109230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66483645259108402607GA306441Uncertain_significanceFukuyama_congenital_muscular_dystrophy|Dilated.....0.067690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66496696609108483589GA663588Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66503645369111630044GT306458BenignFamilial_dysautonomia..0.447280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66513645459111630324CT316271Likely_benignFamilial_dysautonomia..0.075081|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66526819169111631647CT663463Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66536819549111636986CT663481Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66546734469111637304GT663589Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66556819529111637471GT663467Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66566819499111640524GC663482Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66576819489111640553TG662964Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66586819479111640595AG662967Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66596819459111640631CT663596Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66606818929111640667CT663483Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66616818919111641527GA663469Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66622591139111641825GA253259Benign/Likely_benignFamilial_dysautonomia|not_specified|not_provided0.21190.198780.245010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66636819399111643875GA663485Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66646819189111651407AC662987Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66652591129111651620AT253260Benign/Likely_benignFamilial_dysautonomia|not_specified|not_provided0.21252.0.245810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66666734459111653460AG663484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66676819149111655064AG662994Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66686836379111655932AT663487Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66696819129111661150GA663617Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66706705329111670707TC663525Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66716818679111670824TC663527Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66726818619111673137GC663029Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66736818569111678428TA663531Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66742591159111679964CCA253264Benign/Likely_benignFamilial_dysautonomia|not_specified0.12360.09590.086461|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66756818559111680865TC663034Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66761375839111688828CT141286Benign/Likely_benignFamilial_dysautonomia|not_specified|not_provided0.073270.093560.079870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66776818529111693132TC663507Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66784762989111929420CGGC458810Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66796713399113444694AG663691Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66806734679113449078GA663044Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66816832249113449271GC663045Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66822598089113449377TC253267Benignnot_specified0.049260.056970.057110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66836674619113457348GA663517Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66841296359113457726GA135081Benignnot_specified|Congenital_Myasthenic_Syndrome,_...0.154480.241560.170130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66856840849113459369GA663693Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66862598119113459768CG253270Benignnot_specified|not_provided0.05828.0.069090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66876832259113490776CT663697Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66886840789113509778CT663048Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66892598139113524511ATA253272Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66906674629113539185TA663712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66916674639113539210GT663717Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66926734839113546795AG663538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66936840799113547001AC663521Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66942598019113547322TC253275Benignnot_specified|not_provided0.941810.944890.970051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66952598049113550168TC253278Benignnot_specified|not_provided0.480340.486480.37661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66961296339113563143GT135079BenignPena-Shokeir_syndrome_type_I|Myasthenic_syndro...0.09469.0.106830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66973646189116148630CT306496BenignPorphobilinogen_synthase_deficiency..0.780551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66983646219116148767CTTC316070Likely_benignPorphobilinogen_synthase_deficiency..0.011980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
66993646329116150109GA306504BenignPorphobilinogen_synthase_deficiency..0.597641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67003646639116163570CCGGGG316096Uncertain_significancePorphobilinogen_synthase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67016787799117166034TC663054Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6702456729117166246AG54837Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.410730.478560.406351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67031630459117166338GC174544BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.993540.997960.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6704456639117169033AG54828Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.4920.53110.481631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67056787789117169300AG663059Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67066715229117169973GGGTCAAA663523Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67076787779117185395AG663727Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6708456509117186677AG54815Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.762110.794130.830071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6709456409117188566CT54805BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.980620.994180.977241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67101370789117265406CT140781Benignnot_specified..0.255390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6711456449117266965CT54809Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.322730.333930.255590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67123647009117267172GA316505Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd.....0.255390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67133647049117267472GT316132Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd.....0.276160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67143647079117267591CT316135Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd.....0.276360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67153647119117267681AGCCTCCGCA316153Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6716954959119461275GA101394Benign/Likely_benignSarcotubular_myopathy|Bardet-Biedl_syndrome|no...0.10680.109470.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67173647239119462112CT310785BenignBardet-Biedl_syndrome|Limb-Girdle_Muscular_Dys.....0.949081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67187718809121929932CT700773Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67196688639123202516TC663577Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67201367059123220829AG140408Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_3|not...0.184070.150390.232830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67211581329123249744AC168738Likely_benignnot_specified0.163250.148910.210460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67221581279123280950TC167980Benignnot_specified|not_provided0.836920.876260.795730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67236783049123287592CG663781Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67241581719123290996CA168744Likely_benignnot_specified0.0958.0.146970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6725216579123291036CG34509BenignPrimary_autosomal_recessive_microcephaly_3|not...0.848380.877170.801120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67261367079123301346TG140410Benign/Likely_benignnot_specified|Primary_Microcephaly,_Recessive0.06028.0.116610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67276783039123308276TC663551Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67286688609123312819CT663554Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67296704439123313246TC663578Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67306783029123330813TC663082Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6731958969123342259CA101792BenignPrimary_autosomal_recessive_microcephaly_3|not...0.973780.992140.980431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6732958959123342275AG101791BenignPrimary_autosomal_recessive_microcephaly_3|not...0.958790.987820.965461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67336688599123342609GA663084Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67344035649123671520GA389868Benignnot_specified0.693760.687680.732031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67354024549123769200CT389792Benignnot_specified0.324850.458640.404751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67364024559123780005GA389839Benignnot_specified0.324540.456980.405751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67374032719125391770CCA390573Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67381807039126139229GA178868BenignFocal_segmental_glomerulosclerosis_9|not_provided0.001150.00135.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67397018159127243637AG687351Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67407018169127244955GA687352Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67412586229129377855GC253286BenignNail-patella_syndrome|not_specified0.295020.340270.227641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67423649099129459314CT310869BenignNail-patella_syndrome..0.218050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67433649129129459438GA316399BenignNail-patella_syndrome..0.205671/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67443649139129459478CT316653BenignNail-patella_syndrome..0.234030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67453649359129460312AG310880BenignNail-patella_syndrome..0.410340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67463649399129460396CT306743BenignNail-patella_syndrome..0.216850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67473649529129460914AG310893BenignNail-patella_syndrome..0.497010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67483649579129461318CTTC316709BenignNail-patella_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67493649619129461714CT316717BenignNail-patella_syndrome..0.287340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67503649649129461912AG316722BenignNail-patella_syndrome..0.301520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67513649679129462072TC316735BenignNail-patella_syndrome..0.279150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67523649689129462076GA316736BenignNail-patella_syndrome..0.215460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67533649799129462501GT310920BenignNail-patella_syndrome..0.540740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67543649829129462563AG310921BenignNail-patella_syndrome..0.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67553649839129462594TC316487BenignNail-patella_syndrome..0.548320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67563649879129462687CA316496BenignNail-patella_syndrome..0.532350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67573649929129462901TC316768BenignNail-patella_syndrome..0.551120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67586705369130216951GT663086Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67596831209130217050CG663090Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67603650099130219669CT306822BenignCharcot-Marie-Tooth_disease_type_2P|Charcot-Ma...0.60549.0.557511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67616705379130219743TC663582Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67626705389130221388TC663102Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67636831239130223754GA663557Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67646842459130224927AG663784Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67656704979130236243GA663794Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67666831189130240980AG663806Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67676704969130241822TC663811Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67683650209130242109CT310994BenignCharcot-Marie-Tooth_disease_type_2P|Charcot-Ma...0.446230.423250.352041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67693650219130242166AG306833BenignCharcot-Marie-Tooth_disease_type_2P|Charcot-Ma...0.741810.777620.727241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67706831259130245545GC663106Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67716842489130248366TA663813Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67726831279130251512GA663820Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67736831199130253286GGA663821Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67746831299130258160AT663591Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67753650339130259618AC310996BenignCharcot-Marie-Tooth_disease_type_2P|Charcot-Ma...0.73858.0.728831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67766701439130430116AG663132Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67776701449130446493AG663138Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67784393969130630639AG433354Benignnot_specified0.998160.999450.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67791289219130698029GC134368BenignCongenital_disorder_of_glycosylation|Congenita...0.80440.78730.683511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67801289209130698043AG134367BenignCongenital_disorder_of_glycosylation|Congenita...0.80571.0.731031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67816793369130699917GA663618Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67823651189130700251TC306884BenignCongenital_disorder_of_glycosylation|not_provided..0.683911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67833651259130700727TC306897BenignCongenital_disorder_of_glycosylation|not_provided..0.683911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67844030299130914170CG389888Benignnot_specified0.4757.0.479231|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67856792989130981064CT663636Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67866792999130981145TA663620Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67876793139130981666GC663638Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67886793009130982416CT663874Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67896793019130984430CA663639Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67903807779130984755CT370266BenignHistory_of_neurodevelopmental_disorder|not_spe...0.404280.532550.454670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67916793169130988615CA663151Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67926793039130988616CT663625Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67936793049131001692GC663881Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67946793079131012256TC663664Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67956793099131015279GA663887Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67961288329131088076GA134280Benignnot_specified|not_provided0.0925.0.133390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67976835619131088464CT663678Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67983800119131095112AC372181Benignnot_specified0.354220.2450.37780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
67996762019131095332CT663641Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68002568599131277769CTTATTTTC253313Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68011981099131285955AG195270BenignLethal_arthrogryposis_with_anterior_horn_cell_...0.264720.267870.347440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68022568569131289600GT253316Benignnot_specified0.20268.0.269370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68032568589131298590AG253318Benignnot_specified0.262420.267980.347050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68043651369131303522GA317080BenignLethal_arthrogryposis_with_anterior_horn_cell_.....0.265970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68056807869131329591GA663889Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68066701309131331320CT663680Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68076807879131331450AG663682Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68086706239131337389CT663894Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68091600239131337661AC168756Likely_benignnot_specified0.96871.0.951481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68106701319131337843AG663177Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68116807889131340810TA663650Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68126807899131340845TC663193Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68136807909131341642TC663690Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68146701329131341669GA663196Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68151600019131347165GA168766Likely_benignnot_specified0.969170.990980.969051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68161600029131347169CT168767Benignnot_specified|not_provided0.733280.792830.619210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68176705759131348440CG663667Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68186807919131348501GA663702Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68191600099131360750CT168774BenignSeizures|not_specified|Early_Infantile_Epilept...0.760420.806380.642770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68206705769131366070GA663718Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68211600139131374165CG168778Likely_benignnot_specified0.968860.991130.968251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68221392979131379967CT143000BenignSeizures|not_specified|Early_Infantile_Epilept...0.732820.791320.617010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68236750069131380149CG663732Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68241600189131380225AC168783Benignnot_specified|not_provided0.210670.186630.309311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68251600219131388643CT168786Benignnot_specified|not_provided0.723590.791510.611420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68266705779131389194GC663692Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68276701339131389215TC663237Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68286701349131389544CT663239Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68296807929131390472CA663251Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68301600259131392553GA168789Likely_benignnot_specified0.930650.974930.919331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68316807959131392904GGT663734Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68326807969131392942TG663253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68335162149131397479GA502578Benignnot_specified0.732590.788270.621410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68345162139131398636CT502261Benignnot_specified0.706880.804560.601440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68355162129131403096AG502581Benignnot_specified0.835460.826820.740021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68365162039131418828AC502690BenignShort-rib_thoracic_dysplasia_11_with_or_withou...0.998410.9998.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68374030619131670919TC389851Benignnot_specified0.585740.694380.571090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68384398739131670952CT433677BenignAgammaglobulinemia_5,_autosomal_dominant0.019840.036680.030550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68394032639131761437AG389857Benignnot_specified0.295020.349370.261781|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68404032649131761899AG389889Benignnot_specified0.295710.356730.279150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68414032659131764014AC389875Benignnot_specified0.1710.150030.244410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68424032669131767668AC389796Benignnot_specified0.425340.431280.451681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68433652169132575426GCG307031Likely_benignDystonia_1..0.156750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68443652259132575837CA316771Likely_benignDystonia_1..0.078670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68453652299132576060CA316779Likely_benignDystonia_1..0.158750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68462551349132585058GA253324Benign/Likely_benignDystonia_1|not_specified0.234280.227470.226240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68473652399133320102GGT307052Uncertain_significanceCitrullinemia_type_I...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68486832979133327439TC663720Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6849923709133346920AG98281BenignCitrullinemia_type_I|not_specified0.765110.850030.792331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68508025199133346983AG790846BenignCitrullinemia_type_I...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68516833179133347080GA663936Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68522547499133355874AG253332Benignnot_specified0.88874..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6853923769133364757TC98287Benign/Likely_benignCitrullinemia_type_I|not_specified0.102880.094160.076680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68542910849133884600CT275321Conflicting_interpretations_of_pathogenicitynot_specified|not_provided.00.004990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68554357419133901819CCAG428927Benign/Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68561294749133911598AG134920Benign/Likely_benignCortical_malformations,_occipital|not_specified0.87117.0.848241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68571294779133911706CT134923Benign/Likely_benignCortical_malformations,_occipital|not_specified0.396680.455790.398360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68581294489133914321CT134894Likely_benignnot_specified0.077440.077460.074880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68591294499133914570GA134895Benign/Likely_benignCortical_malformations,_occipital|not_specified0.206520.211790.154951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68606829959133921251CG663254Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68616840329133921333GA663740Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68621294519133924451CT134897BenignCortical_malformations,_occipital|not_specified0.273110.284050.258590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68631294529133927878AG134898Likely_benignnot_specified0.4950.459240.471250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68641294549133928345CT134900Benign/Likely_benignCortical_malformations,_occipital|not_specified0.4910.449570.479830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68656829969133932240AC663262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68666829979133932676CT663264Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68676829989133936334GA663747Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68686709579133936381GA663272Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68691294569133936571CG134902Benign/Likely_benignCortical_malformations,_occipital|not_specified0.86512.0.786741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68706829999133936775CT663278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68716840339133942844TC663951Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68726840359133942872GA663954Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68736840369133942889AC663728Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68746840399133942899GA663279Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68756840419133943145CG663751Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68766693929133943172TTG663753Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68776840439133943181CT663754Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68786830009133944065GA663955Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68796840449133946574GA663731Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68806830039133946774CT663738Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68811294589133946909GA134904Benignnot_specified0.33485.0.292930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68821294599133946915CG134905Benignnot_specified0.334850.369430.293130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68831294609133948049AG134906BenignCortical_malformations,_occipital|not_specified0.767570.793120.699081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68846830069133954288CT663280Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68851294649133962853CT134910Benignnot_specified0.206210.235940.167730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68861294659133962930CT134911Benign/Likely_benignCortical_malformations,_occipital|not_specified0.302010.284710.222051|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68871294669133963008GA134912Benignnot_specified0.203450.230920.163340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68881294679133963101AG134913Benign/Likely_benignCortical_malformations,_occipital|not_specified0.377060.407980.371210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68896830079133963322CT663285Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68906839339134382111GA663742Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68916679789134382556GA663286Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68926679799134382673CT663960Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68936839409134383958CT663758Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68946679809134384066AG663288Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68952601499134384277TC253336Benignnot_specified|not_provided0.880670.923290.871011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68966679819134384500CT663761Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68976679829134384513AG663762Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68982270219134385436AG229676Benignnot_specified0.879290.923020.870611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
68992601519134385599AG253338Benignnot_specified|not_provided0.88052.0.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69006679839134385977GA663291Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69016839429134386425TA663745Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69022601529134386675TG253339Benignnot_specified|not_provided0.975630.993130.981231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69031675199134386744TC177969Benignnot_specified0.880520.923080.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69042601399134386903GA253340Benignnot_specified|not_provided0.880590.923110.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69056680029134387038GA663967Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69066680039134387100GA663294Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69076839449134387133TC663746Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69086680049134387255CT663970Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69096680059134387315CG663764Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69101675209134387488TC177970Benignnot_specified0.880520.923190.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69116693939134388340TTC663766Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69126680069134388446GA663767Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69136709639134394163AG663299Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69146680099134394646AG663752Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69152601429134395628CG253343Benignnot_specified|not_provided0.841070.900840.831471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69166680119134395687CA663787Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69176839489134396394AG663308Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69186680139134397057CG663795Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69196680149134397186TC663987Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6920954609134397624CT101359Benignnot_specified|Limb-Girdle_Muscular_Dystrophy,_...0.841690.899610.831671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69216680159134398249CT663768Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69222601369134398534TC253349Benignnot_specified|Limb-Girdle_Muscular_Dystrophy,_...0.878980.924450.870411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69232884279134398719TC272664Benignnot_specified|Limb-Girdle_Muscular_Dystrophy,_.....0.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69243652909134398771TC307106BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.871211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69253652919134398778AG311230BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.981231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69263652939134398841CT311243BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.866411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69273652959134398946TC317271BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.7491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69283653059135137364TC307130Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant|Ataxia.....0.095450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69293653329135139193ATCA307148Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant|Ataxia......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6930956699135139901TC101566Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.444180.392610.538740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69312605169135150616TC253351Benignnot_specified0.151340.172880.250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69322605149135152439AG253353Benign/Likely_benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.094190.091150.094650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69332605139135153668CT253354Benignnot_specified0.44310.388410.533950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6934956679135172412AG101564Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.307170.288010.441690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6935956669135173454CCA101563Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.226070.252830.3740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6936956659135173685TC101562Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.306780.275790.443090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6937956649135187128GA101561Benignnot_specified0.22543.0.37480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6938956639135202829TC101560Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.693760.725160.556110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6939956629135203231CT101559BenignAmyotrophic_lateral_sclerosis_type_4|not_speci...0.693070.725080.556110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6940956619135203409AC101558Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.79294.0.640580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69411937169135203838GA190879Benign/Likely_benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.067050.107230.114221|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6942956589135206460AG101555Benignnot_specified|Amyotrophic_Lateral_Sclerosis,_D...0.775450.74770.62660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69433654149135767943CT316990BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.725840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69443654769135770115CT317457BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.773360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69453654779135770134GA317459BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.450680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69463654799135770300GA311481BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.552120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69473654809135770347AC317467BenignTuberous_sclerosis_syndrome|Focal_cortical_dys.....0.74820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69483655049135771332GAG317055BenignTuberous_sclerosis_syndrome|Focal_cortical_dys......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
6949416979135771987CCGCT50136BenignTuberous_sclerosis_syndrome|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69506706919135776034CT663309Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69516687269135802298AG663778Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69526764229136223043CG663990Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69531393779136223366GA143080BenignLeigh_syndrome|not_specified.0.535360.511980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69546666129136291063CT654535Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69552428069136301982CG20852BenignUpshaw-Schulman_syndrome|not_specified.0.453020.271570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69562624509136324239CA253402BenignUpshaw-Schulman_syndrome|not_specified0.24731.0.230630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69576805229136401425GA663780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69586804619136401606AC663992Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69596805239136402345TA663995Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69606804629136403754TC663997Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69616804639136404694TC663786Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69626804649136404724AG663812Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69636804659136409367TC663816Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69646804669136409404GC663817Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69656804679136409420AG663999Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69666805199136409457AG663818Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69676804689136409529CT664001Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69683655789136409580TG307319BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.87713..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69696804709136409854CT663789Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69706804719136412041CT664007Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69713655819136412170CT311619BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.875370.819380.724041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69723655829136412236AT307323BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.875520.819680.724641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69733655839136412255AC307324BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.8756.0.724641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69743655859136412346CT311626BenignGeleophysic_dysplasia_1|Geleophysic_dysplasia|...0.874980.818090.720451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69756804729136412382TC664018Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69765183969136434598AG508836BenignGeleophysic_dysplasia_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69773656149136440144GA311656BenignGeleophysic_dysplasia..0.463660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69782177599136500515TC214409BenignOrthostatic_hypotension_1..0.787340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69792177589136505114AG214410BenignOrthostatic_hypotension_10.57320.459870.429910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69803656379136505127CT307375Likely_benignOrthostatic_hypotension_10.04498.0.027960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69813656539136509448CG317212BenignOrthostatic_hypotension_10.1414.0.12440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69823656619136518097AG317218BenignOrthostatic_hypotension_10.525450.557070.621210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69833656679136522187AG317226BenignOrthostatic_hypotension_10.232970.273370.240420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69847683359136637177AACACACGGCCCCGGCGGTCACTGCGTGAGGGC777727Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69853657019137533787TG311702BenignEhlers-Danlos_syndrome,_type_7A|not_provided..0.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69866833699137582487CT663804Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69876722379137582580GA663826Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69886722399137593392CT663370Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69896833719137618792GA663819Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69906722409137618970GA663829Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69911369229137619195CT140625BenignEhlers-Danlos_syndrome,_type_7A|not_specified|...0.33215.0.342651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69926722419137619425TG663853Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69936833749137619514GC663834Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69946722429137620336GA663854Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69952551009137620474CT253405Benignnot_specified|not_provided0.37137.0.408951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69966722439137620847AC663845Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69972551029137622033AG253406Benignnot_specified|not_provided0.371420.459320.408151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69982551019137622039GA253407Benignnot_specified|not_provided0.370980.459040.408751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
69996722449137622455AC664051Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70006722459137623193CT663850Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70012550499137623555TC253410BenignEhlers-Danlos_syndrome,_classic_type|not_speci...0.37982.0.419331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70024395249137623601CG433429BenignEhlers-Danlos_syndrome,_classic_type|not_provided..0.708071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70036833579137630015CT663855Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70046784619137658608AG664110Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70056722469137658730TC664115Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70066731299137659000CT663891Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70072550619137659236CT253422Benignnot_specified|not_provided0.02330.027320.030550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70086709789137660194GT663893Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70096709799137660375AG664119Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70106731319137660455TC663897Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70116785189137660532GC663418Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70126833679137664376TG663888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70136731329137664871GC663914Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70146745549137666528GA664145Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70156698619137667008GT663916Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70161368669137672012CT140569Benignnot_specified|not_provided0.358760.408840.287940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70176696309137672282AG663438Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70186698999137674224CG663442Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70192550629137674488GA253423Benignnot_specified|not_provided0.170380.134940.152960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70206745579137676675CT664176Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70216745609137676745TC663928Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70226833759137677588AC664183Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70232550679137677921CT253428Benignnot_specified0.073730.086410.06090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70246739059137677985CT663450Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70256722479137678038TC663948Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70262550699137686906CT253430Benignnot_specified|not_provided0.659850.611350.691690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70276710019137687038AG663965Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70286722489137687314CT663454Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70296722499137688048TC664185Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70306722759137688427TG663904Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70316696359137689033TTTC663985Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70326735909137689981CT664194Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70336697419137693499GC664002Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70346745629137696713CT663473Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70356745639137697210AG664009Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70366833789137700749TG663910Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70376745649137700943CT664015Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70386833819137701391GA664237Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70396833849137701802AG664017Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70402550789137702059GC253438Benignnot_specified0.238350.143760.24720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70412550819137702200GC253442Benignnot_specified0.48698.0.452880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70422550829137704414GA253443Benignnot_specified0.113790.101890.105030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70431368819137704433GA140584Benignnot_specified|not_provided0.113870.10820.105230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70446833859137706385AG664023Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70456833869137708121GA664255Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70464395269137709780TC433431BenignEhlers-Danlos_syndrome,_classic_type..0.582270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70471369009137711997GC140603BenignEhlers-Danlos_syndrome,_type_7A|not_specified|...0.42519.0.408150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70486833879137712327CG664266Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70496833939137712390TC663949Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70502550899137714027TC253450Benignnot_specified0.667230.565850.609430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70516742759137715450CT663508Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70526722789137716227AG664054Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70532550929137717610TC253454Benignnot_specified|not_provided0.711980.72580.746011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70546722799137717869CT664058Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70556722819137722170GA664291Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70566689519137722311CT664072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70573657419137734232CT311762BenignEhlers-Danlos_syndrome,_type_7A..0.75141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70583657469137734416CT317325BenignEhlers-Danlos_syndrome,_type_7A..0.349441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70593657609137734882CA307524BenignEhlers-Danlos_syndrome,_type_7A|Ehlers-Danlos_.....0.325281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70603657649137735017TTAGGG307541BenignEhlers-Danlos_syndrome,_type_7A...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70613657689137735232GCTATG311778BenignEhlers-Danlos_syndrome,_type_7A...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70623657699137735274AT317776BenignEhlers-Danlos_syndrome,_type_7A..0.606431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70633657919137736544GT307555BenignEhlers-Danlos_syndrome,_type_7A..0.757391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70643657959137736650TC317385BenignEhlers-Danlos_syndrome,_type_7A..0.576081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70656820789138645716CT664012Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70666820959138656644CT664019Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70676744959138656717GT664034Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70686820999138656783TC664039Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70696821039138656838AG664103Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70702613609138656862GA253461Benignnot_specified0.026470.022620.022360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70712613619138657053TG253462Benignnot_specified0.239580.217580.207870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70726744969138657109AG664104Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70736821059138657171TC664323Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70746821219138657635AG664108Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70756821239138657687GA664046Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70766821269138660237GA664114Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70771293539138662273GA134799BenignSeizures|not_specified0.296680.267970.355430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70781947829138662309AG191945Benignnot_specified0.728080.712630.744210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70796744979138662391GA664137Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70806821229138662465GT663576Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70816821249138662661GA663581Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70826821299138663179AG663607Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70836745149138664522GA664154Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70846821369138664851GA664362Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70856745159138664967CT664109Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70866719679138666829CT664161Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70876719689138666847TC664112Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70886824229138666939TC664163Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70896824259138666972GA664365Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70906824279138667320TC663610Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70916824289138667409AG664169Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70921293579138669261GA134803BenignSeizures|not_specified|not_provided0.634940.66870.652160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70933658289139258462AG311847BenignFamilial_Candidiasis,_Recessive.0.32040.254190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70943658579139266405GA307609Benignnot_specified|Familial_Candidiasis,_Recessive0.374290.402230.366210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70953658589139266496CT317914Benignnot_specified|Familial_Candidiasis,_Recessive0.373060.401950.366610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70964024899139272058AG389800Benignnot_specified0.371130.408810.369410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70974024909139272502TC389882Benignnot_specified0.31558.0.327880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70983658689139323311TC311884BenignJoubert_syndrome..0.365820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
70993658739139323424TC317479BenignJoubert_syndrome..0.37760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71003658759139323799AG311894BenignJoubert_syndrome..0.382790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71013658779139324029CT317952Likely_benignJoubert_syndrome..0.148360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71021292729139324737CA134718Benign/Likely_benignJoubert_syndrome|not_specified|not_provided0.216750.204730.173920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71032611979139326253TC253468Benignnot_specified0.245290.00750.267170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71041292669139327034AG134712BenignJoubert_syndrome|not_specified|not_provided0.407210.400430.37780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71056750389139327154CT663631Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71061292659139327439AG134711BenignJoubert_syndrome|not_specified|not_provided0.436010.41940.37840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71072155269139327599GGCGCCCACCCCTCCAGCCA212658Benign/Likely_benignJoubert_syndrome|not_specified|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71086750379139328369TC664130Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71096819669139328722GT663637Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71102612039139333049GCCCTG253479BenignJoubert_syndrome|not_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71116781429139400406CT664218Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71126785649139400904CT664219Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71136785639139401504GA664417Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71146785629139401577CG664220Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71156785599139402663TC664419Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71166785579139402908TC664425Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71176780169139402959AG664432Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71186785569139403102TC664160Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71196781419139403268TC664437Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71206780849139403554TC664167Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71212811089139405261CT265345BenignAortic_valve_disorder|not_specified|Cardiovasc...0.45492.0.585460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71226785549139405361AG663646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71236781409139405501AG664182Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71246778989139407452CT663651Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71256781339139408756AG663652Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71266785499139408892CT664191Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71273837809139410424AG372816Benignnot_specified0.87330.870410.883991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71286785479139410589AG664256Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71296785439139440390AG663684Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71303659019139567687GA317995BenignCongenital_generalized_lipodystrophy..0.334071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71313659039139567692CT318011Uncertain_significanceCongenital_generalized_lipodystrophy..0.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71323659049139567762GC307661BenignCongenital_generalized_lipodystrophy..0.803321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71333659139139568047GA311915BenignCongenital_generalized_lipodystrophy..0.800521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71341295749139981627AG135020BenignHistory_of_neurodevelopmental_disorder|not_spe...0.914160.975880.905351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71351295739140001978CA135019BenignHistory_of_neurodevelopmental_disorder|not_spe...0.278790.28380.178320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71361295779140002989TC135023BenignHistory_of_neurodevelopmental_disorder|not_spe...0.81916.0.80990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71373880199140040364GA370291Benign/Likely_benignnot_specified|not_provided0.000540.002370.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71386834029140040617GC664484Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71391291799140055876GA134625Benignnot_specified|not_provided0.946810.935580.933511|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71406816259140056070TC664281Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71412812149140128085TC265451BenignAutosomal_recessive_hypophosphatemic_bone_dise...0.413660.444490.455670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71421942779140130606AT191440Benignnot_specified0.886920.883080.946091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71431942769140130882AC191439Benignnot_specified|not_provided0.3774.0.329070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7144657249140638461TC76632BenignKleefstra_syndrome_1|History_of_neurodevelopme...0.503840.396960.468850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7145961429140652476GT102036BenignKleefstra_syndrome_1|not_specified0.15970.062240.136980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71468025559140777306CG790882BenignNEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71477717379140917904GC700932Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7148300213106052841CA321772Likely_benignInterleukin_2_receptor,_alpha,_deficiency_of..0.05990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7149300224106053374AG322463BenignInterleukin_2_receptor,_alpha,_deficiency_of..0.354831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7150300234106053866CT322478Likely_benignInterleukin_2_receptor,_alpha,_deficiency_of..0.090260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7151300256106063508GA321833BenignInterleukin_2_receptor,_alpha,_deficiency_of0.039980.060140.06030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7152300258106066195TA322504BenignInterleukin_2_receptor,_alpha,_deficiency_of0.296860.360750.320291|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7153300259106066200CG321841BenignInterleukin_2_receptor,_alpha,_deficiency_of|n...0.175380.212610.179310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7154301109108097368GA322770BenignBarakat_syndrome..0.490221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7155301133108116241GGA322826Uncertain_significanceBarakat_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7156301140108116598GA323466BenignBarakat_syndrome..0.865021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71572992071013142251GA314580BenignPrimary_open_angle_glaucoma|Amyotrophic_Latera.....0.173120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7158960221013151224GA101916BenignPrimary_open_angle_glaucoma|not_specified|Amyo...0.20129.0.178320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71591978461013158262CT195007BenignPrimary_open_angle_glaucoma|not_specified|Amyo...0.818930.815560.803911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71608025621013166076AG790945BenignPrimary_open_angle_glaucoma...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71613688951013180287TG353124BenignPrimary_open_angle_glaucoma|Amyotrophic_Latera.....0.179110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71622992391013320111GTG309744BenignPhytanic_acid_storage_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71632992401013320236CT309747BenignPhytanic_acid_storage_disease0.28625.0.236420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7164953491013330402TC101248BenignPhytanic_acid_storage_disease|not_specified|no...0.299940.239430.239020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71651298911013337588GA135337BenignPhytanic_acid_storage_disease|not_specified|no...0.965930.990780.972441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
716675821013340236GA22621Benign/Likely_benignPhytanic_acid_storage_disease|not_specified|no....0.150380.097641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71672993051014950164CTTC309805Uncertain_significanceHistiocytic_medullary_reticulosis...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7168359991014976727GC44663Benign/Likely_benignSevere_combined_immunodeficiency_disease|Sever...0.091190.090540.116810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71692993731016882518TC321422BenignMegaloblastic_anemia|not_provided0.714820.716970.635980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71702993881016918997TC321438Likely_benignMegaloblastic_anemia0.138470.107530.117010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71712993891016919052TC320825Benign/Likely_benignMegaloblastic_anemia|Megaloblastic_anemia_due_...0.079730.091120.06290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71724395781016930279AT433470BenignMegaloblastic_anemia_due_to_inborn_errors_of_m.....0.771371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71732994091016943371GC321443BenignMegaloblastic_anemia|not_provided0.999920.9999811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71742994371016967401CT309899BenignMegaloblastic_anemia|not_provided0.999620.995810.993411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71752994381016967586CG309900Likely_benignMegaloblastic_anemia0.124710.130690.134590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71762994441016975078GA314859BenignMegaloblastic_anemia0.171380.206480.196890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71772994531016979661TC320918BenignMegaloblastic_anemia|not_specified0.510840.462530.541330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71782994621016982244GT309928BenignMegaloblastic_anemia0.170080.20030.230430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71792994791017024503GA309938BenignMegaloblastic_anemia|not_provided0.748730.772890.613420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71802994801017024615AT314919BenignMegaloblastic_anemia|not_provided0.748810.773210.613820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71814395761017110474CT433468BenignMegaloblastic_anemia_due_to_inborn_errors_of_m.....0.914541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71822994981017110595GA320977BenignMegaloblastic_anemia0.84830.856790.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71832994991017110598TG320980Benign/Likely_benignMegaloblastic_anemia|Megaloblastic_anemia_due_...0.017150.024910.029951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71842995271017147521GT321564BenignMegaloblastic_anemia0.58757.0.534340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71852995331017152994GA309965BenignMegaloblastic_anemia|not_provided0.197060.210050.214861|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71862995381017156151AG321032BenignMegaloblastic_anemia|Megaloblastic_anemia_due_...0.698450.727830.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71877683501017659131CA701276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71886743671018429407CA664690Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71893688971018629603GA353126Likely_benignBrugada_syndrome..0.428120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71906718281018690668AG664956Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71912632621018789724TG253715BenignBrugada_syndrome_4|not_specified0.32562.0.229830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71926732671018790142GT664093Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71936718301018807057GA664098Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71946832871018826813TC664673Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71956832981018827828CT664710Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71966832991018827886AC664712Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71971366491018828635TG140352Benign/Likely_benignBrugada_syndrome|not_specified|Cardiovascular_...0.15159.0.097040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71982155491018828663GT212763Benign/Likely_benignBrugada_syndrome|Brugada_syndrome_4|not_specified.0.788140.774361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
71992995761018828721CCAA321622Likely_benignBrugada_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72002995841018829113GGCTGA321638Likely_benignBrugada_syndrome...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72012996111018829981AATGTT310034Likely_benignBrugada_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72022996161018830318TC321665Likely_benignBrugada_syndrome..0.05970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72032996181018830618CT321097Likely_benignBrugada_syndrome..0.405551|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72042996201018830669TC321105Likely_benignBrugada_syndrome..0.760181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72057693621019425531AG701281Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72066781091021075084GC664682Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72076714401021076100CA664714Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72086836771021097159AT664122Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72096729141021097769AG664689Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72106836761021101423TC664693Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72116836731021103274CA664993Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72126711741021104694AT664700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72136728831021108247CT664995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72146713241021108706TC664718Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72156738491021111924AG665002Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72166711721021115332TC665003Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7217454841021120116AG54650Benignnot_specified0.430190.389310.469051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72186713231021129588TC665022Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7219454751021134282CG54641Benignnot_specified|Cardiovascular_phenotype0.06098.0.038540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7220454721021139389TC54638Benignnot_specified|Cardiovascular_phenotype0.061130.065040.038740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7221454711021141469TC54637Benignnot_specified|Cardiovascular_phenotype0.99277.0.952481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72226836621021141852CG664726Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72236785391021147520TC664732Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72246696381021147611AC664737Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72256836711021149015CG665031Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72266728811021157492TC664151Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72276711531021176945GA665050Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7228454951021177143GGA54661BenignPrimary_dilated_cardiomyopathy|Cardiomyopathy|......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72296786101021178530AG665054Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72306728801021178574GA664156Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72316836601021179160AT664747Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72326728791021185821AC664159Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72336836701021186738GA665064Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72346836691021186862GA664752Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72356743461021461232GA665068Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72361647751021461410GGA174922not_providednot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72374441381023466734GA437762BenignDiabetes_mellitus_type_2..0.450281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72384441431023478779TG437764BenignDiabetes_mellitus_type_2..0.211460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72391300551023482635TC135501BenignPermanent_neonatal_diabetes_mellitus|not_speci...0.51076.0.62441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72402996281023482850GA321688BenignPermanent_neonatal_diabetes_mellitus0.058590.127660.212860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72414441451023544272TC437766BenignDiabetes_mellitus_type_2..0.694691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72424441441023572382AC437768BenignDiabetes_mellitus_type_2..0.718250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72434441411023579424GA437769BenignDiabetes_mellitus_type_2..0.18750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72446827221026240944CT664166Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7245457911026241025TA54956Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.0940.056970.074080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72461646041026286066TTAT174648Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7247458171026286159GT54982Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.10963.0.091450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7248458231026355906GA54988Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.488390.484970.393570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7249457921026355992AG54957Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.682530.678590.662741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72502608101026357747CGCA,TA253719Benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
7251457981026357820CT54963Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.488010.484390.396370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7252458011026385578GA54966Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.105850.088350.057310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7253458041026446312GA54969Benign/Likely_benignDeafness,_autosomal_recessive_30|not_specified...0.521070.50640.455270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7254458071026457637TC54972Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.136250.097080.087661|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7255458111026463130CA54976Benign/Likely_benignDeafness,_autosomal_recessive_30|not_specified...0.562740.598680.601040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72562608111026465792TC253720Benignnot_specified0.105950.087450.057510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72576695381026986932TC664761Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72586695391026987060GC665072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72596715821026990849TG664177Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72606834401026993390TA665074Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72616715831026993955CA664184Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72626715841026993961GA665086Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72636834421026994650AG664770Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72646715851026998358CT664187Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72656834491027024710GA664203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72666834501027031214AG665099Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72672997041027035478CT315186Likely_benignCoenzyme_Q10_deficiency,_primary..0.089860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72682604611027326999TC253730Benignnot_specified0.828870.840810.865221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72692604721027389197TC253739Benign/Likely_benignThrombocytopenia|not_specified0.893460.897740.944691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72702997851027444303GA315284Likely_benignThrombocytopenia..0.397171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72712621111027444344TG253744Benign/Likely_benignThrombocytopenia|not_specified0.84066.0.855231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72722621261027454111AT253749Benign/Likely_benignThrombocytopenia|not_specified0.617480.59240.504791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72732621271027456003GA253750Benignnot_specified0.993160.997910.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72742621151027459670CT253752Benign/Likely_benignThrombocytopenia|not_specified0.616250.591080.504591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72752621221027475444TC253758Benign/Likely_benignThrombocytopenia|not_specified0.625480.59710.510981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72762621101027475494TC253759Benign/Likely_benignThrombocytopenia|not_specified0.500920.558780.399961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72772998061027475693TC310197Likely_benignThrombocytopenia..0.509581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72786686061027815665AG665104Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72796840311027826517CT664789Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72802998791027830783GGT315390BenignWarburg_micro_syndrome.0.765050.736221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72812609941028228865AG253760Benignnot_specified0.508070.536350.533150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72827182551028971169GA723906Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72836717821030605410GA664228Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72846840831030611774TG664771Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72856832231030615190CT664796Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72861382811030629136GA141984BenignAtaxia,_spastic,_4,_autosomal_recessive|not_sp...0.269180.260180.225640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72871296241030629226GA135070BenignAtaxia,_spastic,_4,_autosomal_recessive|not_sp...0.262260.249990.218450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72886832221030629549GT664243Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72896842661030638597CA664245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72907718841043315692CT701339Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72913688981043572507AG353127BenignPheochromocytoma|Multiple_endocrine_neoplasia|.....0.736820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72923784781043581980CT371670Benignnot_specified..0.745210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7293139521043582056TC28991Benign,_risk_factorHirschsprung_disease|Hirschsprung_disease_1|no.....0.757390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72946951951043582273AC685271Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72956770501043595781GT664781Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72961675891043595968AG174942Benignnot_specified|not_provided.0.736530.753590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72976770511043600864AT664254Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7298959951043606687AG101890BenignPheochromocytoma|Multiple_endocrine_neoplasia|...0.748580.706070.775160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
72996770531043611865TC665137Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73002613961043612226CT253767Benignnot_specified0.203690.214450.120610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73011675901043613843GT175112Benignnot_specified|not_provided0.802630.741910.712460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73021650561043622217TC174666Benignnot_specified0.853330.80310.754990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73032999341043625223GA315412BenignPheochromocytoma|Multiple_endocrine_neoplasia|.....0.74720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73047683561047087078GT701353Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73057683571047087474CT701352Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73067683591047087501CT701350Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73077683601047087680CT701349Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73087683611047087731CT701348Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73097683621047087830GA701347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73106746971048414570AG664801Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73113000291050666628CCA322302Uncertain_significanceMacular_degeneration|Cockayne_syndrome|Cerebro......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73121290201050667105TC134466BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.189140.217840.178911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73131290171050678369TC134463BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.196680.220330.18471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73141290161050678717TC134462BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.190910.218560.182511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73152551631050691360TC253773Benignnot_specified0.84930.907110.887581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73161901531050701156GA188007BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.83223.0.8771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73177883611050724408GA712389Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73181290141050740876GC134460BenignMacular_degeneration|Cockayne_syndrome|not_spe...0.627560.694640.590861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73198025721050820345CA790963BenignFamilial_infantile_myasthenia...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73202613251050822192GC253774Benignnot_specified.0.744570.44091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73211934331050822226TG190597Benignnot_specified|not_provided.0.992180.971851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73222613371050828506GA253779Benign/Likely_benignnot_specified|not_provided0.971940.986090.966251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73236680721050829828AG664295Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73246789341050835967CA664296Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73251991571050856652GA196316BenignFamilial_infantile_myasthenia|not_specified0.961020.989620.966451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73266783511050857849CT665158Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73276783521050857890TC664303Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73286680731050859629TG664848Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73296812971050860229CG665163Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73306680741050860383TC664855Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73311287191050863147TC134168Benignnot_specified|not_provided0.83984.0.793530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73326783551050863565CT664304Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73336791231050863623AG664859Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73346800991050870500GA664865Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73352208011052913020GA221980BenignAortic_aneurysm,_familial_thoracic_8|not_speci...0.016610.016810.008590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73366747111053667443CT664809Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73376747121053667476GA664811Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73386837151053667586CA664314Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73396837171053813948AG664335Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73406837201053813953AC664339Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73413811951053814229GT371297Benignnot_specified0.315320.348250.269171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73426747381053814383CT664341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73436837401053893305CA664882Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73446780861053893888GA664356Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73456779891054011665AG664367Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73466747151054031443TC664840Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73476837231054048234GA664849Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73486747281054050079GA664852Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73493001091054525509AC321599Likely_benignMannose-binding_protein_deficiency..0.338860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73503001101054525678TG321600Likely_benignMannose-binding_protein_deficiency..0.339060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73513001131054525849TC315587Likely_benignMannose-binding_protein_deficiency..0.338660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73523001141054525857CA321603Likely_benignMannose-binding_protein_deficiency..0.273160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73533001241054526206CT322359Likely_benignMannose-binding_protein_deficiency..0.451881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73543001311054526622AG322365Likely_benignMannose-binding_protein_deficiency..0.276960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73553001481054528266GC315631Benign/Likely_benignMannose-binding_protein_deficiency|not_specified0.770610.804140.738821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73563689001054531461GA353129Likely_benignMannose-binding_protein_deficiency..0.283350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73572278371055566671GA229796Conflicting_interpretations_of_pathogenicitynot_specified|not_provided0.001460.00070.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7358440351055568972TG53203Benignnot_specified0.148640.248870.298120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73596704091055587034AG664381Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73606788661055588137GA665210Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73616704081055588484GT664861Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73626703921055588495AG664897Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73636788671055590850GA664864Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7364464761055591313GA55641Benignnot_specified0.352660.433090.44030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73656788621055617177TC664904Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7366464681055626630GGA55633Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73676788631055626750GA664916Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73686743901055663198AC664867Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73696743891055663202TC664869Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73706788611055700973TC664920Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73716788601055700979TG664872Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73726679561055701068TC664925Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73732621491055719652CT253789Benignnot_specified|not_provided0.679070.736260.734031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73746788591055721761AG664874Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73756788571055721844GGT664876Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73766788561055755237CT664926Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7377464561055755491CT55621Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.211130.256230.31530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73786788551055779760CA664397Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73792621471055779915GA253791Benignnot_specified|not_provided0.599420.636730.460260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73806788541055783146AT664895Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73816788531055838950AG665213Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73826788491055942965AG664944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73832621451055943184TC253792Benignnot_specified|not_provided0.78533.0.608031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73846703891055973589CT665224Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73856703881055973889GA664906Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73866679531055974067TA664917Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73876788421055996408AT664922Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73886703871055996761CT665225Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73896754731055996785GA664945Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73906739031056076760TC664924Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7391465111056077209GA55676Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.74020.660440.603830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73926679361056089068GC664931Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73936788451056089131AG664935Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73946788441056089166CT664954Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73956788431056089223AG664937Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73966679351056089718CT664958Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73976679341056129286CA665228Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73986841771060145079AG656003Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
73996841791060145597GC664961Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74006841871060147784GA664966Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74016841891060148692AG664420Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74027732351060573675GA701383Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74038025771061956386GGA790968BenignMental_retardation,_autosomal_recessive_37...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74041283621061965625AG133811Likely_benignnot_specified0.181760.159610.151560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74052857661064573771CT270003Benignnot_specified|not_provided0.982160.995290.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74066800311064575410GT664947Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74076705061064576317GC664430Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74084602221065225244GACG460152Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74092408641068139039GA240825BenignArrhythmogenic_right_ventricular_dysplasia,_fa...0.011530.011830.004990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74105167421069366602TC502840Benignnot_specified0.456170.381080.529950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74116730491069902549TC664442Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74126836531069909513CT664998Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74136786191069909562CT664977Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74146836541069917921CT665257Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74156836551069917925TC664986Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74166711431069918602AG664988Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74176785371069921733TA664456Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74186728321069925789CT665259Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7419317951069926097TC40455Benignnot_specified|Cardiovascular_phenotype|not_pro...0.578660.622670.482631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7420318031069926319CA40463Benignnot_specified|Cardiovascular_phenotype|not_pro...0.12610.156490.116611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7421317961069926325CT40456Benignnot_specified|Cardiovascular_phenotype|not_pro...0.172310.180910.157751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74226836561069926687GA665007Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74231384191069935235TC142122BenignDilated_cardiomyopathy_1KK|not_specified0.982160.993850.982431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74246698661069948326TC665028Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7425317991069948844TC40459Benignnot_specified|not_provided0.985470.995580.984631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74266730511069949057TG665035Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74276728381069953929AG665042Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74286728391069953942GA665270Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74296715061069954301CT665278Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74306728691069954451AG664468Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74316711471069955140TA664470Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74326689931069956848TC665288Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74336711501069957375CT664481Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74346689951069957554CT665046Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74356728711069958975GT665047Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74366711511069959097GT665052Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74376780151069959567CA664490Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74386689961069959624AG665049Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74396836581069961270CT665067Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74406728751069961405AG665306Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74416728761069961408CT665070Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74426728771069961470AG664500Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74436711521069961501AG665056Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74446690111069962062TC665059Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74456698841069966251GA665310Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74466728781069966392TG665315Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74476697251070190695TG665088Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74482573421070191631CT253799Benignnot_specified|not_provided0.038440.04240.021171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74496697231070196580TC665323Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74506697201070197186TA665093Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74516697191070204373TC665100Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74526697161070205152GA665089Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74536837421070206390TC665094Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74546697131070209582ATCGCTTGAACCCGAGAGA665103Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74552573461070225504GT253801Benignnot_specified|not_provided0.275820.286750.366410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74562573451070227964CT253802Benignnot_specified|not_provided0.070070.131140.139180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74576698811070228249TC665108Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74586698631070231333CG664520Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74596762501070231412GA665107Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
746017191070641860TC16758risk_factorPreeclampsia/eclampsia_4.0.623140.612420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
746117201070645376AC16759Conflicting_interpretations_of_pathogenicityPreeclampsia/eclampsia_4.0.212210.144170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74626828161070765250GA665132Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74636719321070775001TC664521Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74646828181070775081TC665114Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74654397871071103597CG433604Benignnot_specified0.376210.323760.283350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74662554831071142420GA253803Benignnot_specified0.820080.783160.778751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74671297651071332204AG135211Benignnot_specified0.587750.585980.429911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7468958821072195439TC101779BenignHoloprosencephaly_sequence|Heterotaxia|Viscera...0.53860.617150.665740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74693003241072357713CT315856BenignFamilial_hemophagocytic_lymphohistiocytosis..0.577880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74703003251072357720GA310615Likely_benignFamilial_hemophagocytic_lymphohistiocytosis..0.097440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74712574091072358577GA253807BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.662390.635650.695891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74722574081072358655GA253808Benign/Likely_benignFamilial_hemophagocytic_lymphohistiocytosis|no...0.147850.158210.112620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74736914021072536936AG679096Uncertain_significanceHirschsprung_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74743003451072643671CT322610BenignBH4-Deficient_Hyperphenylalaninemia0.728310.776820.765381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74753003501072648336CT322615Likely_benignBH4-Deficient_Hyperphenylalaninemia.10.1240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74763003541072648422GT322628BenignBH4-Deficient_Hyperphenylalaninemia..0.380990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74771303421073082563AG135789BenignHistiocytosis-lymphadenopathy_plus_syndrome|no...0.487390.424660.469250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74781303401073104056AG135787BenignHistiocytosis-lymphadenopathy_plus_syndrome|no...0.879440.867380.81431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74791303411073111408CT135788Benign,_drug_responseHistiocytosis-lymphadenopathy_plus_syndrome|no...0.618250.638430.479831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74803003631073115941TGCA321945Conflicting_interpretations_of_pathogenicityHistiocytosis-lymphadenopathy_plus_syndrome|no......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74811303471073121913AG135794BenignHistiocytosis-lymphadenopathy_plus_syndrome|no...0.892280.824620.792731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74821303371073121945TC135784BenignHistiocytosis-lymphadenopathy_plus_syndrome|no...0.86660.830180.753791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74833003941073157033CCCGAGG322651Conflicting_interpretations_of_pathogenicityRetinitis_pigmentosa-deafness_syndrome|not_spe......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74846804981073199333AG665120Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74856703201073199501CA664523Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74866787631073206287CT665125Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74876787651073269714TC665126Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7488459281073270906TC55093Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.74960.672070.734631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7489459401073270982GA55105Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.739650.66910.725241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74902615481073270995AG253816Benignnot_specified|not_provided0.74355.0.731231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74916804991073337417TC665128Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74926703221073377314CG665343Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7493458721073434888GC55037Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.121190.19980.18531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74946805001073436872TA664529Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74956787671073437020AG665130Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74966787681073437560TC665143Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74972615431073439101TC253817Benignnot_specified|not_provided0.928420.96240.915141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74986787821073447555CT665371Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
74996787691073454151CT665145Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75006787701073454256TC665150Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75017609501073454444AC775660Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75027609641073454483AG775543Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75036787711073454935CG665140Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75046787721073465033CT665141Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7505459371073492079AG55102Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.81290.815930.782150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75066703261073494159TA665149Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75076787731073494229TC665156Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75086703271073498644AG665376Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75096805051073499068TC664534Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75106805061073499827GA665167Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75116787831073500861CT665151Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75126787841073501374CT664538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7513459551073501556GA55120Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.741080.775250.728830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75148025861073520632AC790978BenignRetinitis_pigmentosa-deafness_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75158025871073533177AG790979BenignRetinitis_pigmentosa-deafness_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7516459601073537614GA55125Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.140970.178890.132190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75176805071073548388GA665195Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7518459971073550117CG55162Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.414430.429140.345250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7519460581073569749CT55223Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.1160.114140.080870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7520460711073571521GA55236Benign/Likely_benignGalactosylceramide_beta-galactosidase_deficien...0.110880.150870.078870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75213004891073575384AG316044Benign/Likely_benignGalactosylceramide_beta-galactosidase_deficien.....0.789340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75226807241073583520GC665157Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75236807231073583948TGT665390Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75246807211073591149TC665400Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75256807201073593913AG665160Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75266807191073594499GA665405Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75273005481073724266CG322169BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.56131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75283005811073768992CA310830BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.609630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75293006051073769543GA322808BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.202080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75303006201073770073CT322831BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.576480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75313006221073770128GA322239Likely_benignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.088260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75323006301073770578AG310887BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.575480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75333006321073770651TC310890BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.591650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75343006411073771282CT322245BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.240620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75353006601073772161GT322890BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.610020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75363006611073772216GA316200BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.240220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75373006701073772650GC322267BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.240220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75383006711073772661TA322892BenignSkeletal_dysplasia|Spondyloepiphyseal_dysplasi.....0.591650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75396675001074168136AG665202Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75406674991074235232TG665416Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75415591821074268031TC549971Benignnot_provided0.519040.579810.297921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75426674961074284025CT665220Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75436674951074310651GA665221Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75443007521075673731CT322380BenignQuebec_platelet_disorder0.539670.456470.361020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75453007651075676464CT322983BenignQuebec_platelet_disorder..0.371610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75463007761075677166TGT316340BenignQuebec_platelet_disorder..0.366610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75476840571075757580AG664574Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75486712871075842152GA664587Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75496694181075842799AAT665185Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75504984571075843100TA489881Benignnot_specified|not_provided0.63655.0.780750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75516780441075853796CT664592Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75526780311075855842CT664605Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75536712311075863750CT665436Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7554455951075865065GA54761Benign/Likely_benignHirschsprung_disease|not_specified|Cardiovascu...0.438720.476120.324680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75556726961075866929CA664611Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75566726971075869065TC665218Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7557456001075871735CG54766Benign/Likely_benignDilated_cardiomyopathy_1W|not_specified|Cardio...0.762420.673390.6230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75586726981075873892CT665241Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75593008081075878915CCTA316355Likely_benignDilated_Cardiomyopathy,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75603008151075879511TA323069Likely_benignDilated_Cardiomyopathy,_Dominant..0.62540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75613008351075936611CT311044BenignHypermethioninemia0.77360.681220.630190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75628025881076349020CTC790980BenignHypermethioninemia_due_to_adenosine_kinase_def......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75633008471076468851CT316390BenignHypermethioninemia..0.850040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75645615791076603482CT552622Benignnot_provided..0.446490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75655615771076719679CA552623Benignnot_provided0.349320.274220.473840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75665615801076720040TC552624Benignnot_provided..0.12720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75675615811076720081CT552625Benignnot_provided..0.18850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75685615781076729632CT552626Benignnot_provided..0.474040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75693009271078645067GA322540Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia..0.714661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75703009331078645453GA316458Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia..0.380590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75711293281078944590GA134774Benign/Likely_benignGeneralized_epilepsy_and_paroxysmal_dyskinesia...0.449330.360480.405950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75727868261079588706GA712480Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75732270691081317292GA229922Benign/Likely_benignnot_specified|not_provided.0.286650.348841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75741651971081372081AG175023Benignnot_specified0.161720.200020.220850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75751652151081701722TC175027Benignnot_specified0.716050.66350.770370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75761652181081706281AG175307Benignnot_specified0.050590.045390.024360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75771652191081706324AG175029Benignnot_specified0.413580.470040.504590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75783011531082031937CCCCAGCCTGAA322697BenignHepatic_methionine_adenosyltransferase_deficiency...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75793011591082032445GC316692Likely_benignHepatic_methionine_adenosyltransferase_deficiency..0.028951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75803011651082032555TA316710BenignHepatic_methionine_adenosyltransferase_deficiency..0.120010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75812561041082033594GA253866BenignHepatic_methionine_adenosyltransferase_deficie...0.537910.512360.586861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75822561031082034262GA253867BenignHepatic_methionine_adenosyltransferase_deficie...0.537980.512530.588061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75832561071082034842AG253869BenignHepatic_methionine_adenosyltransferase_deficie...0.707030.744120.840461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75842561061082034854TC253870BenignHepatic_methionine_adenosyltransferase_deficie...0.709340.750440.840861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75852561051082040052AG253871BenignHepatic_methionine_adenosyltransferase_deficie...0.748420.75430.863421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75862561081082045354GC253872BenignHepatic_methionine_adenosyltransferase_deficie...0.247270.14670.19091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75873011991082049251TTTTTTTC,TTTCTTC311293BenignHepatic_methionine_adenosyltransferase_deficiency...1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
75886914061083637775CG679097Uncertain_significanceHirschsprung_disease...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75896914081084745256CT679099Uncertain_significanceHirschsprung_disease...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75902622151085960395AG253878Benignnot_specified|Cone-Rod_Dystrophy,_Recessive|no...0.524910.494720.515970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75912622101085972043AG253884Benignnot_specified|Cone-Rod_Dystrophy,_Recessive|no...0.418350.355730.429111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75921947941085974236TC191957Benignnot_specified|Cone-Rod_Dystrophy,_Recessive|no...0.60488.0.573681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75931947951085974381AG191958Benignnot_specified|Cone-Rod_Dystrophy,_Recessive0.680530.586710.62741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75943012781085975246TG316942BenignCone-Rod_Dystrophy,_Recessive..0.571691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75953012811085975284GA316962Likely_benignCone-Rod_Dystrophy,_Recessive..0.098040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75963013121085976965AC311434BenignCone-Rod_Dystrophy,_Recessive..0.556511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75973013141085977020AT323570BenignCone-Rod_Dystrophy,_Recessive..0.256591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75982857541086004873TC269991Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.620560.531180.633590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
75991971741086012713CT194335Benignnot_specified|Retinitis_Pigmentosa,_Recessive0.50515.0.503190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76003013241086018493CCA323008Likely_benignRetinitis_Pigmentosa,_Recessive..0.116010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76013013271086018811AG317026Likely_benignRetinitis_Pigmentosa,_Recessive..0.116210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76026830051088428076AT664616Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76036711231088428158TC664626Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76041381061088428335TC141809Benign/Likely_benignLeft_ventricular_noncompaction_cardiomyopathy|.....0.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76056725181088439005GA665227Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76066720141088440996CG665235Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76072573371088445385GC253888Benignnot_specified|not_provided0.710220.687510.62421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76086836101088445741CT664648Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76096720331088446633AT665240Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7610438811088458996TTCT53050Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76113013471088516595TC323644BenignJuvenile_Polyposis..0.348240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7612417821088635779CA50221BenignHereditary_cancer-predisposing_syndrome|not_sp...0.389510.355820.49980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76132592861088683122TC253896BenignHereditary_cancer-predisposing_syndrome|not_sp...0.389820.353760.496610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76144353391088817578GAG429134Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76151291641088820789TC134610Benign/Likely_benignHyperinsulinism-hyperammonemia_syndrome|not_sp...0.069430.122060.167730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76168108881089623716GA799618Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76174402171089623901GC433880Benignnot_specified..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76184402191089653686AG433072Benignnot_specified..0.417930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7619928101089720907TG98717BenignPTEN_hamartoma_tumor_syndrome|not_specified0.378640.369910.432510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76203014631089726745TC323162BenignPTEN_hamartoma_tumor_syndrome..0.37340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76216745761090695243GA665309Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76226805181090695411TC665553Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76236745741090703465CT665311Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76246805171090707397AG665314Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76252547341090771829TC253905BenignAutoimmune_lymphoproliferative_syndrome|not_sp...0.695220.756130.775361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76266842751090975117CG665316Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76276720001090982081AG665559Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76282556111090983629CT253907Benignnot_specified|not_provided0.302710.399280.454271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76296720511090984787TG665317Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76302556101090984990GA253908Benignnot_specified|Wolman_disease|not_provided0.165.0.318891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76316842731090987007TC665329Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76326842691091005854CT665330Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76331950491091007360TG192211BenignLysosomal_acid_lipase_deficiency|not_specified...0.240970.316320.286141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76346842681091007470CA665561Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76353016031092672564TC323274Likely_benignDilated_Cardiomyopathy,_Dominant..0.354230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76366831011092679630GC664729Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76373016131092680929AG323878Benign/Likely_benignDilated_Cardiomyopathy,_Dominant|not_provided..0.662340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76382594111094366898AG253910Benignnot_specified0.144470.06330.154950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76392594081094392459AT253911Benignnot_specified0.1590.085080.178120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76402112731094409586TA207803Benignnot_specified|not_provided0.004770.004660.00240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76417784691094834568CG701479Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7642953461095372734GA101245Benign/Likely_benignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.19453.0.164340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76432599381095389041GA253917BenignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.366290.349620.395770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76442599391095389083AG253918Benignnot_specified0.368450.351570.396170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76452599401095395247AG253920BenignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.737510.739670.728830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76462599421095395364CG253921Benign/Likely_benignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.22913.0.235220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76472599431095405814CA253922BenignAchromatopsia|not_specified|Cone-Rod_Dystrophy...0.423420.460450.413340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76486830301095537587CT665569Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76496840551095549595CA665347Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76506830311095549671AG665570Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76513016621095557775TC311731Likely_benignFamilial_temporal_lobe_epilepsy_1..0.005190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76523016661095753822AG323939BenignNephrotic_syndrome..0.552520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76533016761095790669GA323351BenignNephrotic_syndrome..0.367010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76542607331095791613TC253928BenignNephrotic_syndrome|Nephrotic_syndrome,_type_3|...0.396540.31970.460460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76552607341095791763GA253929BenignNephrotic_syndrome|Nephrotic_syndrome,_type_3|...0.318240.286040.37820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76562607121095931087GT253931BenignNephrotic_syndrome|Nephrotic_syndrome,_type_3|...0.17173.0.201080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76572607221096044734CA253940BenignNephrotic_syndrome|Nephrotic_syndrome,_type_3|...0.271750.343130.230230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76582607291096076495CG253946BenignNephrotic_syndrome|not_specified0.11880.145550.087060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76592259471096405502GA227769drug_responsewarfarin_response_-_Dosage..0.245410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76606662431096535124AG622287..0.161930.186270.228440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7661168971096541616GA31936drug_responseMephenytoin,_poor_metabolism_of|Proguanil,_poo...0.154130.185630.221450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76623017461097365820GA324029BenignCutis_laxa,_recessive..0.200480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76633017491097366107AG324059BenignCutis_laxa,_recessive..0.200080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76643017531097366364CT324060BenignCutis_laxa,_recessive..0.297920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76656784461097366746CT664731Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76662588251097369939CT253949BenignCutis_laxa-corneal_clouding-oligophrenia_syndr...0.393280.410830.279550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76676830441097370331TG665352Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76686784441097370989TA665341Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76696830431097373193GGA665576Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76706830381097373200TA665588Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76716784431097373966AC665593Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76726830371097385492GA665606Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76736838181097388579CT664744Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76746830361097393678GA665355Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76752588261097397227TC253953Benignnot_specified|not_provided0.666690.686160.642571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76766827571097397486GA665616Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76776702291097440572GC665618Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76786749601097442995AG665375Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76796702281097444603CT665628Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76806749591097446206GA664757Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76811305771097447373AT136023Benignnot_specified0.351760.35440.424720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76822606691097447487TA253956Benignnot_specified0.196990.162910.195290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76834024271097990583AG390501Benignnot_specified0.5582.0.461261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76842042591099359406CT200664Uncertain_significancePrimary_hyperoxaluria,_type_III0.092890.083880.072680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76853018271099498234GA323498BenignSpastic_paraplegia,_autosomal_dominant|not_pro...0.52230.530420.43691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76861307871099504630GT136233Benignnot_specified|Spastic_paraplegia,_autosomal_do...0.763840.732380.696491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76873018411099519097AG317478BenignSpastic_paraplegia,_autosomal_dominant0.759030.730460.679711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76883018461099519305TC324172BenignSpastic_paraplegia,_autosomal_dominant..0.742011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76893018471099519424GA317487BenignSpastic_paraplegia,_autosomal_dominant..0.734231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
76903018501099519753GA311862BenignSpastic_paraplegia,_autosomal_dominant..0.678911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769129830910100176104AGGGGA317492Uncertain_significanceHermansky-Pudlak_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769229831110100176154CT317495BenignHermansky-Pudlak_syndrome..0.430910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769329831410100176339AG323522BenignHermansky-Pudlak_syndrome..0.572280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769429831510100176366TC323544BenignHermansky-Pudlak_syndrome..0.572280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769529832210100176615GC311898BenignHermansky-Pudlak_syndrome..0.590450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769629832910100176869CT317497BenignHermansky-Pudlak_syndrome..0.461460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769729833210100176997AG311903BenignHermansky-Pudlak_syndrome..0.538940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769829833310100177049GA317527BenignHermansky-Pudlak_syndrome..0.526360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
769916718410100182285TC175332BenignHermansky-Pudlak_syndrome|not_specified0.205910.269590.257590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770025550010100184062CCAG253962Benign/Likely_benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770116366610100195130GA175056Benign/Likely_benignHermansky-Pudlak_syndrome|not_specified0.043670.063350.06390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770280262610100219374TA791020BenignUrofacial_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770371362010101163636GA730720Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770429837510101469605GA323571BenignHepatic_failure,_early-onset,_and_neurologic_d.....0.826280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770529837710101469903TG311921Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.106431|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770629838510101470858CCA317617BenignHepatic_failure,_early-onset,_and_neurologic_d......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770729838710101470927AG311927Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.12640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770812883610101473218AG134284BenignHepatic_failure,_early-onset,_and_neurologic_d...0.834850.861010.827080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
770968343410101473535CT664772Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771029843210101492241GA311989Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.538740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771129843410101492403TG317652Likely_benignHepatic_failure,_early-onset,_and_neurologic_d.....0.540140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771229843710101542578CT323615Benign/Likely_benignDubin-Johnson_syndrome|not_specified0.152160.168680.134980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771380262710101544447AT791021BenignDubin-Johnson_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771419610110101604207CT193262BenignDubin-Johnson_syndrome|not_specified0.33354.0.288140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77159438710102506070GC100287BenignRenal_coloboma_syndrome|not_specified0.77499.0.846650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771613659310102747363GT140296BenignMitochondrial_DNA_depletion_syndrome|not_speci.....0.412140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771768341810102749933GATGGCAG664765Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
771829851310102753788CG309222BenignMitochondrial_DNA_depletion_syndrome|Autosomal.....0.057510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77194412910102770082TG53297Benignnot_specified|not_provided.0.812210.772961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77204412610102770293TTGCTGCG53294Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77214412410102770327AG53292Benignnot_specified|not_provided.0.810870.776161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772268385510102770953AC663984Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772367246010102772211AG664489Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772467243310102772256GA663986Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772568385210102772283AC664493Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772666795810102775716GA664540Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772768384210102776398CG663989Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772868267910102777461TC663991Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
772968267810102777768CG664544Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773068267710102780312GT664785Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773168383710102780638AC664494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773266795710102782309AC664793Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
77334621110102783678TC55376Benignnot_specified|not_provided0.661460.57770.596050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773419344910103454402AT190613Benign/Likely_benignSplit-hand/foot_malformation|not_specified0.103920.228820.095251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773519640410103991381GA193565Benignnot_specified|not_provided0.663230.646970.664141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773640323210104157727CT389832Benignnot_specified0.922190.964580.922131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773740323310104159196AG389920Benignnot_specified0.991860.99710.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773840323410104160434AG389836Benignnot_specified0.989480.996770.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
773967712710104263675TC664497Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774026068910104264107CT253668Benignnot_specified|not_provided0.479550.485670.396170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774167712810104264280CT664499Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774267712910104268877GC664547Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774367713010104269217GA664507Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774467713110104269301GA664511Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774567713210104352124CCCATTT664513Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774667713310104374815GC663998Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774726068810104387019TC253670Benignnot_specified|not_provided0.681150.662750.719650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774829858710104391034CT309286Likely_benignMedulloblastoma..0.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
774929860710104392580CT319883Likely_benignMedulloblastoma..0.12340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775013706310104592249AC140766Benignnot_specified|not_provided0.220440.223780.138780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775176100010104594906TG775608Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775229862410104596924CA314017BenignCongenital_adrenal_hyperplasia|not_provided0.38329.0.410340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775329862510104596981GA314018BenignCongenital_adrenal_hyperplasia|not_provided0.39490.424780.442490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775429863010104597152AG314022BenignCongenital_adrenal_hyperplasia0.38234.0.410540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775529864510104814162TC319953BenignRenal_Hypomagnesemia,_Dominant0.390210.419920.432510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775629865110104836940CT314056BenignRenal_Hypomagnesemia,_Dominant0.107790.114580.077080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775729866510104837816GA320488BenignRenal_Hypomagnesemia,_Dominant..0.262780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775838085210104849468GA371502Benignnot_specified0.396820.41710.422130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
775966776210104851285GA664522Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776066774410104851396GT664527Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776166774210104852648GA664537Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776266774010104852659AAAACTT664004Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776366773410104855670GA664548Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776466773910104857205GAG664812Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776566773710104857218AC664005Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776666773510104857234CA664818Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776766753810104860053TA664553Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776866753710104866062CT664556Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
776938085110104934709TC371505Benignnot_specified0.11010.113810.076680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777038085010104953007CG371524Benignnot_specified..0.819690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777176838610105110740AAGGAGGC701154Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777229867310105791355CT319982BenignEpidermolysis_bullosa,_junctional..0.18850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777329867610105791629CAC320507BenignEpidermolysis_bullosa,_junctional..0.246610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777429867810105791929CG309383BenignEpidermolysis_bullosa,_junctional0.23193.0.228830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777525627410105796399GC253672BenignEpidermolysis_bullosa,_junctional|not_specified0.72290.780440.691491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777625627310105796819AG253673BenignEpidermolysis_bullosa,_junctional|not_specified0.986240.996430.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777725627210105797378GA253674Benignnot_specified0.716360.778090.682911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777825627110105798872TC253675BenignEpidermolysis_bullosa,_junctional|not_specified0.72251.0.681511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
777925627010105799216GT253676BenignEpidermolysis_bullosa,_junctional|not_specified0.715130.776870.683511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778025626910105801253GA253677BenignEpidermolysis_bullosa,_junctional|not_specified0.718130.772490.673921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778125626810105805497CT253678Benignnot_specified0.432420.49450.43610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778229871810105810371TG320575Conflicting_interpretations_of_pathogenicityEpidermolysis_bullosa,_junctional|not_provided0.001230.002770.00221/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778325626710105810400TC253679BenignEpidermolysis_bullosa,_junctional|not_specified0.719050.780340.693691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778429872510105815116AG320577Likely_benignEpidermolysis_bullosa,_junctional0.117410.139020.099640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778525626610105816916CT253680BenignEpidermolysis_bullosa,_junctional|not_specified0.848870.935660.818491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778625626310105819956GA253682BenignEpidermolysis_bullosa,_junctional|not_specified0.55520.647320.552521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778725627610105824333GA253683BenignEpidermolysis_bullosa,_junctional|not_specified0.585120.673950.56491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778866761410112327119AG664557Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
778967495010112328838CG664832Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779067011010112333272GA664008Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779125977010112337693TA253686Benignnot_specified0.05022.0.141970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779225977110112341636AC253687Benignnot_specified0.096520.149440.148160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779315999210112343591GA168820Benignnot_specified|Cornelia_de_Lange_Syndrome0.097310.148990.148160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779425976510112343923TC253688Benignnot_specified0.098110.148850.148160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779567011210112349204AG664566Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779625976810112356331GA253691Benignnot_specified|not_provided0.972620.979250.957271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779767011310112359740AT664551Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779867011410112360002GA664834Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
779925976910112360936AG253692Benignnot_specified0.09756.0.148960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780015998510112361870AG168840BenignHistory_of_neurodevelopmental_disorder|not_spe...0.98985.0.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780167495210112362019GT664567Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78024402910112404302GA53197Benign/Likely_benignCardiomyopathy|not_specified|Cardiovascular_ph....0.152230.222240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780367118210112543217GA664564Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780467305510112543345GA664579Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780567118310112544063AC664030Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78064397510112544655CT53143Benign/Likely_benignnot_specified|Dilated_Cardiomyopathy,_Dominant0.219010.164020.164140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780713890110112572458GC142604Benign/Likely_benignCardiomyopathy|Dilated_cardiomyopathy_1DD|not_.....0.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780867118410112572873TC664589Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
780967118510112572930GA664590Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781067203610112579663CT664860Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781167203710112580880CT664037Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781267859510112583606AG664594Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781367859710112590582GA664040Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78144401210112590810GC53180Benign/Likely_benignDilated_cardiomyopathy_1DD|not_specified|Dilat...0.971310.9880.969651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781567203810112591134AG664041Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78164401610112595719GC53184Benign/Likely_benignDilated_cardiomyopathy_1DD|not_specified|Cardi...0.75843.0.697091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781729880810112596122TC320661Likely_benignDilated_Cardiomyopathy,_Dominant..0.013780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781856154210112745766TC552614Benignnot_provided..0.450481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
781956158910112760544AG552615Benignnot_provided..0.971451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78204145010112764594TC49888Benignnot_specified|not_provided0.822550.834750.843251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782156149710112768818CT552618Likely_benignnot_provided..0.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782256149610112768850AC552619Benignnot_provided..0.394171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782351107810112836503GC502747Likely_benignnot_specified..0.456471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782429889210115312811TC320281Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia..0.322280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782529889810115334124CT314323Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.544060.623490.534550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782629891210115341753GA314337Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.419110.400360.3770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782729891510115341846GA309537Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia0.41835.0.37620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782829893010115348726GAG320351Likely_benignFactor_VII_Marburg_I_Variant_Thrombophilia.0.348970.347640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
782976091610115485245GA767642Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78301774710115804036AG32786Likely_benignResting_heart_rate|not_specified.0.3040.177720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78311774610115805056GC32785drug_responseCongestive_heart_failure_and_beta-blocker_resp....0.7360.701680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783278091310118969353CA712183Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783368383210120907043CG664599Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783468382910120916539TC664615Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783538000710120917445GA371170Benignnot_specified|not_provided0.482390.496330.509981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783668382810120917858TC664055Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783768382610120918950CT664888Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783838000610120920588TC371173Benignnot_specified|not_provided0.466860.481920.494411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
783968382510120924874GC664622Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784068382410120925433GC664059Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784167123410121410670CT664065Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784267133710121429072AG664625Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784367549510121432208AG664909Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784425926310121435955AC253698Benignnot_specified0.720160.676740.635181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78454477710121436362AG53944BenignMyofibrillar_myopathy,_BAG3-related|not_specif...0.770340.74090.706471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784629896710121437031CTTGC320409BenignDilated_Cardiomyopathy,_Dominant|Myofibrillar_......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784729897310121437329AG309576BenignDilated_Cardiomyopathy,_Dominant|Myofibrillar_.....0.153160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784829899110123239112GA309584BenignCraniosynostosis|Crouzon_syndrome|Acrocephalos...0.434520.531050.414340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
784966790310123241373CT664070Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785066790210123241496TC664912Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785166790110123242026TC664913Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785225531710123243197GA253699BenignCraniosynostosis|Crouzon_syndrome|Acrocephalos...0.454410.561380.423120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785366790010123246612GA664919Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785466789910123279866CT664927Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785525531910123298158TC253704BenignCraniosynostosis|Crouzon_syndrome|Acrocephalos...0.76672.0.795330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785629901910123357561CT320469BenignCraniosynostosis|Crouzon_syndrome|Acrocephalos.....0.710261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785729902910124214355CT314432Likely_benignMacular_degeneration0.12546.0.114420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785829903910124216825TC309623Likely_benignMacular_degeneration..0.051920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
785929904110124216834AC314437Likely_benignMacular_degeneration..0.051920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
78602132510124221276GC34177Benign/Likely_benignMacular_degeneration|Cerebral_autosomal_recess.....0.048920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786129905410124271589GA309634Benign/Likely_benignMacular_degeneration|not_provided0.999390.999840.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786229905510124271595GA320494Likely_benignMacular_degeneration0.650620.611260.6281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786376839810124351954GA701230Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786440257710124595874GAG389937Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786536889310124768423GA353122Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.012981|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786629906010124768437AAG321002Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786729908910124812685ATA320535Uncertain_significanceDeficiency_of_2-methylbutyryl-CoA_dehydrogenase...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786829909910124813543CT320547BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.441490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
786929911910124815149CG309669BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.895371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787029912610124815394GA321076Likely_benignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.101040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787129912810124815456AC321077BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.172720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787229913410124815771TC314520BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.161540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787329914310124816515CG321087BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.962261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787429915210124817100AG309686BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.962261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787529916010124817748AT320612BenignDeficiency_of_2-methylbutyryl-CoA_dehydrogenase..0.333870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787668325710126086730GA664657Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787716110126089434GA15200BenignOrnithine_aminotransferase_deficiency|not_prov....0.418030.409941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787868325610126089656TG664627Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
787968325510126089703GA664933Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788067211310126090562TC664628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788168434310126091938CG664074Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788216739610126093991TC177892BenignOrnithine_aminotransferase_deficiency|not_spec...0.80870.852610.865821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788368324210126100850TC664942Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788429918110126107506AC320637BenignOrnithine_aminotransferase_deficiency..0.863021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788529919810127511756CT321178BenignCongenital_erythropoietic_porphyria..0.37320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788622526810127511790GT227033BenignCongenital_erythropoietic_porphyria..0.379390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788777174310131964784GA701252Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788868376510135179777CT664632Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
788937996610135180430AG373332Benignnot_specified0.941870.984110.947881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789068376310135183094CA664688Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789168376210135183709GT664656Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789268376110135183802TC664661Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789337996510135184126GA370659Benignnot_specified0.801340.913080.821291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789468375810135184421CG664952Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789568375710135184555TG664086Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789640258110135347397TC389879Benignnot_specified0.965250.991160.972841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789740258210135351362TC389938Benignnot_specified0.718210.830220.700881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789876840411193112CT701694Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
789976840511193722AG701695Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790066965311299091GC665036Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790167499011299219CA665986Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790219313111299411CG190296BenignOsteogenesis_imperfecta_type_5|not_specified0.38807.0.592650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790367488511299586AG665688Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790466761311299719TA665859Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790566761211299749GA665863Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790656138811532923AC552660Benignnot_provided..0.056110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
79074043111534242AG48901BenignCostello_syndrome|Rasopathy|not_specified|not_...0.354530.313520.297121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
790856135711534403GCCCAGGCCCAGCGCCCAGG,G552665Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
790947607211615010GATT461411Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791030625211791462GA322136BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.299320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791167057411795374CTC,CC666116Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
791266794311819486TC665287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791366794411820127TG666312Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791426124511822622AG254345Benignnot_specified0.559240.534180.442491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791525272811823729CT247067Benign/Likely_benignNeutral_lipid_storage_disease_with_myopathy|no...0.01759.0.007590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791626123611824789TC254357BenignNeutral_lipid_storage_disease_with_myopathy|no...0.706840.592370.654351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791730630911824987CTGCAC328307BenignNeutral_lipid_storage_disease_with_myopathy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
791830631011825110AG328308BenignNeutral_lipid_storage_disease_with_myopathy..0.342251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7919178786111250488CT175377Benignnot_specified0.318040.439550.392770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7920163995111252708GC175100Benignnot_specified0.52881.0.569490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7921163996111253401CG175799Benignnot_specified0.39738.0.464460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7922163997111253942TC175659Benignnot_specified0.606880.643980.544930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7923403127111255089CCCCTGC389907Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7924163998111255773CT175660Benignnot_specified0.255780.379790.339460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7925403133111264183GA389975Benignnot_specified0.114670.122540.085260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7926403141111264890AG389852Benignnot_specified0.08320.139160.097640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7927403147111266696AC389977Benignnot_specified.0.197890.321490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7928403148111266716TC389927Benignnot_specified.0.169380.294930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7929403150111267325TC389877Benignnot_specified0.302370.489680.480630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7930403159111267960AG389881Benignnot_specified0.67401..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7931403165111268931AC389999Benignnot_specified..0.288940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7932403171111269835GA389954Benignnot_specified..0.461460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7933403175111271429CT390023Benignnot_specified0.38796.0.467050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7934403179111272226AC390027Benignnot_specified0.4698.0.540340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7935403180111272858CT390035Benignnot_specified0.260120.319060.338860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7936303822111774136TG319538Likely_benignNeuronal_Ceroid-Lipofuscinosis,_Dominant/Reces.....0.155950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7937303831111774666TC313438Likely_benignNeuronal_Ceroid-Lipofuscinosis,_Dominant/Reces.....0.200480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7938670819111774934AG665706Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7939258490111775385CT254079BenignCeroid_lipofuscinosis_neuronal_10|not_specifie...0.054270.078660.052320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7940128876111780205AG134324Benign/Likely_benignSeizures|Ceroid_lipofuscinosis_neuronal_10|not...0.089520.078370.076280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7941128875111780867GA134323Benign/Likely_benignSeizures|Ceroid_lipofuscinosis_neuronal_10|not...0.064230.071310.055310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7942128873111782594GA134321Benign/Likely_benignSeizures|Ceroid_lipofuscinosis_neuronal_10|not...0.064370.070410.055310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7943669403111785401TC665626Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7944140481111861225CA150159not_providednot_provided..0.173720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
794594120111861760TC100020Benign/Likely_benignArthrogryposis_multiplex_congenita_distal|Arth...0.80324.0.827680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7946259023111862168CT254092Benignnot_specified0.199660.265890.176920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
794731866111943605GA40526not_providednot_provided..0.781350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
794831868111944202AG40528not_providednot_provided0.72339.0.779750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
794931869111944636AT40529not_providednot_provided..0.81050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7950260032111950302AG254096Benignnot_specified0.79995.0.824280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7951304051112181060TG326978BenignMaturity_onset_diabetes_mellitus_in_young|Sega...0.547550.73780.649161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7952255532112182004AG254106BenignMaturity_onset_diabetes_mellitus_in_young|Sega...0.931870.980490.933911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7953304059112182224AT319828BenignMaturity_onset_diabetes_mellitus_in_young|Sega...0.567140.72680.649561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7954263257112189185GA254111Benignnot_specified0.602470.719490.705671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7955526231112190591CG526178BenignDystonia..0.25020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
795621866112190951CT34718BenignSegawa_syndrome,_autosomal_recessive|not_speci...0.2880.42490.430510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7957671897112789856AG665973Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
795842488112797237GA51658BenignArrhythmia|Long_QT_syndrome|Jervell_and_Lange-...0.143510.258440.180911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7959671898112798448AG665855Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7960671899112868878TC665983Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7961304249112869712GA326211BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn....0.105480.091050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7962304262112870108AG320017BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn....0.448130.521770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7963304268112870165AG320030BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn....0.447450.515380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7964254879112905204GGC254131Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7965768417112923826AG701720Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7966768418112930594CGC777942Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7967258966114103524AG254154Benignnot_specified0.438760.49960.388980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7968258971114104745CG254158Benignnot_specified0.790550.889960.81211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7969769375114615508CG701771Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7970403275114790873CGC390067Benignnot_specified0.319540.212870.215860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7971403274114976145CG390070Benignnot_specified.0.135410.303121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7972256342115246512TG254201Benignnot_specified..0.710260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7973256341115246595CG254202Benignnot_specified|not_provided..0.099240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
797436316115247141GA44980Benignbeta_Thalassemia|not_specified|not_provided..0.713860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7975439774115247726GA433082Benignbeta_Thalassemia|not_specified|not_provided..0.099240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7976256345115247791CG254206Benign/Likely_benignbeta_Thalassemia|not_specified0.85090.76990.720050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7977193106115248243AG190271BenignHb_SS_disease|beta_Thalassemia|Fetal_hemoglobi.....0.714260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7978219307116235656GA220996Uncertain_significanceMalignant_tumor_of_prostate0.005460.004230.00260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7979256592116411935TGCTGGCT254229Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
798093317116415463GA99224Benign/Likely_benignSphingomyelin/cholesterol_lipidosis|not_specif...0.198090.191740.149960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7981674309116550309GA656069Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7982201786116630028TCT198367BenignCardiomyopathy|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7983305489116634149CT328601BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.81031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7984305490116634189GA327528BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.448881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7985558850116637518AG549679Benignnot_provided0.989610.996860.989821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7986305512116637739ATA321432Uncertain_significanceNeuronal_Ceroid-Lipofuscinosis,_Recessive|not_......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7987558856116638506AT549685Benignnot_provided0.465680.549410.462061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7988773524116646898CT701905Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7989306557119800601GA328659BenignCharcot-Marie-Tooth_disease_type_4..0.610821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7990306572119801925TG315597BenignCharcot-Marie-Tooth_disease_type_40.272290.309030.327481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7991669272119802228GC665931Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7992673451119806914TTACTG666136Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7993669269119810432GA666377Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7994669268119810440CT665942Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7995261940119812236GA254371BenignCharcot-Marie-Tooth_disease,_type_4B2|Charcot-...0.885260.858360.802721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7996669265119830732AT665304Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7997669264119834403AG665972Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7998669263119834428CG665974Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
7999669262119838235AG666140Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8000669306119851276GA665320Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8001671682119851331CT666379Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8002138965119853777GC142668Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.082290.098730.082270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8003669260119854112AG665980Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8004670562119861009GA666383Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8005669259119863927AC666384Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8006669258119868840AG665322Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8007672627119871849CT666397Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8008672626119874505TG665325Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8009670561119875353GT666152Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8010684195119917222CT665990Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8011673450119917620GC665327Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80126705581110215598CT665379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80133021371110476689AG312171Likely_benignErythrocyte_AMP_deaminase_deficiency..0.619611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80143021401110476762GC312172BenignErythrocyte_AMP_deaminase_deficiency..0.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80153021421110476898TC324733Likely_benignErythrocyte_AMP_deaminase_deficiency..0.717651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80163021751110521764TC324011Benign/Likely_benignErythrocyte_AMP_deaminase_deficiency|not_speci...0.314470.408370.367410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80173021811110528125AG317975BenignErythrocyte_AMP_deaminase_deficiency..0.974841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80183021841110528483AG324028BenignErythrocyte_AMP_deaminase_deficiency..0.947281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80193021861110528521AG324845BenignErythrocyte_AMP_deaminase_deficiency..0.993411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80203021901110529016GA312217BenignErythrocyte_AMP_deaminase_deficiency..0.994011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80212558171113514053GT254060BenignHypoparathyroidism_familial_isolated|not_speci....0.161060.151360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80222558161113514417CT254061BenignHypoparathyroidism_familial_isolated|not_speci...0.513710.557920.417730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80231271071117298104AC132616not_providednot_provided..0.951081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80241271081117298125CG132617Likely_pathogenicnot_provided..0.665140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80251271101117298277AG132619not_providednot_provided..0.100840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80263037221117408025AG326654Likely_benignMaturity_onset_diabetes_mellitus_in_young|Tran.....0.468851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80273037271117408251GA319470Likely_benignMaturity_onset_diabetes_mellitus_in_young|Tran.....0.467651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80283037311117408404CT319487Likely_benignMaturity_onset_diabetes_mellitus_in_young|Tran.....0.735821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80291586701117408630CT168863Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young|Isle...0.732020.644840.730631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80301586801117409069GA168871Benign/Likely_benignMaturity_onset_diabetes_mellitus_in_young|Isle...0.22286.0.227440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
803186781117409572TC23717drug_responseglibenclamide_response_-_Efficacy|gliclazide_r....0.64710.737021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80324355541117410144CAC429192Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80331577041117414715TC167552Likely_benignnot_specified0.372090.343860.356230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80341577001117417504AG167548Likely_benignnot_specified0.470380.458340.421530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80351576991117418477CA167547BenignPermanent_neonatal_diabetes_mellitus|not_speci...0.73857.0.726441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80361576981117419279CT167546BenignPermanent_neonatal_diabetes_mellitus|Hyperinsu...0.409670.296230.390970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80371576941117429922TC167542Benignnot_specified|not_provided0.608810.612470.614621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80381576881117448704GA167536BenignPermanent_neonatal_diabetes_mellitus|not_speci...0.353610.434590.368410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80391576841117452492GA167532BenignPermanent_neonatal_diabetes_mellitus|Hyperinsu...0.458730.431120.429910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80404467631117470274CT441416Uncertain_significancenot_specified..0.00160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80413037931117515459CCTGTT325652BenignRetinitis_pigmentosa-deafness_syndrome|Nonsynd......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80426678751117516183TC665835Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8043480081117517235AG57172Benignnot_specified0.352070.406180.369811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80446789081117517381CATC665590Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80456788831117517407GC665837Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80466789091117518525GT665660Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80476788821117522810TC664971Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80486704201117523289CT665666Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80496788811117525965GA664973Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80506704191117531449GT665858Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80512627311117532102CT254073Benignnot_specified|not_provided0.171340.163590.199881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80526704171117533635GA665668Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80536788801117539255CT665860Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8054479761117542439TC57140Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.5040.568860.516371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8055479751117542491CT57139Uncertain_significancenot_specified8e-050.000140.00060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8056479741117542553CT57138Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.09310.060770.085660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80576704161117542583CT665673Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80586704151117542586TC665676Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80596704141117542649TC664981Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8060479731117542872GC57137Benignnot_specified0.41429.0.442691|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80616788791117545091AG665865Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80626789111117545141CT665682Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80636724621117545704GA665685Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80646724611117545726TC665602Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80656678741117546378TC664982Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80666789071117548704CA665694Likely_benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80672627361117548737TC254076Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80682268921117627613GC230112Benignnot_specified.0.767960.826081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80697684331118290737TG777941Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80702629851118312953GA254082Benignnot_specified0.57650.611650.650160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80712629831118317699CT254084Benignnot_specified0.578940.591450.650160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80721831581118325146CT181294associationdecreased_blood_alpha-hydroxyisovalerate_levels..0.418730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80731636781118327684GT175690BenignHermansky-Pudlak_syndrome|not_specified0.712260.728960.804710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80743039081118416048GGC313482Likely_benignGlycogen_storage_disease_XI...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80756830231118418719CT665627Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80766830241118420805TA665738Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80773039121118422487CA325801Benign/Likely_benignGlycogen_storage_disease_XI|not_specified|not_...0.13840.144190.097440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80786841911118424118AT665925Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80796830251118424223GC665630Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80803039141118424451CT319682BenignGlycogen_storage_disease_XI|not_specified|not_...0.632280.697790.634581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80813039151118424487AG325814BenignGlycogen_storage_disease_XI|not_specified|not_...0.62980.697720.634581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80825588361118424590TA549651Benignnot_provided0.627790.701360.634781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80836830261118425018TC664999Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80846841931118426656AT665748Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80856830281118426796TG665752Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80866830291118427317AG665640Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80876841941118427386TAAACT665755Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80883039251118429450AG313501BenignGlycogen_storage_disease_XI.0.548390.49840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80893039261118429467TC313504BenignGlycogen_storage_disease_XI.0.716240.629991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80903039291118429548CG313512BenignGlycogen_storage_disease_XI.0.548210.4980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80916720121119208070CA665772Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80926784721119210083CT665773Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80936834411119210112GA665776Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80946834391119213543CG665783Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80956834381119213606AG665792Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80963039911120621186CT319758BenignHyperekplexia0.092420.088970.06370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80973040021120622975GA319765BenignHyperekplexia0.369420.406680.405750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80983040031120623007CT313581BenignHyperekplexia0.26612.0.19030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
80993040061120623023CT313586BenignHyperekplexia0.32452.0.326880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81003040081120623042TC313588BenignHyperekplexia|Hyperekplexia_30.795020.778910.793131|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81013040111120623156CG325940BenignHyperekplexia|Hyperekplexia_30.993230.998320.993611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81023040181120639400AG325978BenignHyperekplexia0.995.0.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81033040261120649644TC319779BenignHyperekplexia0.10134.0.06190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81043040331120673832CA326944BenignHyperekplexia0.152470.162280.075481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81053040431120676417CT326948BenignHyperekplexia0.229740.183310.140781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81063040931122214877AAAGGAGGAGGGGAATGAGGAGGAGG319863BenignGnathodiaphyseal_dysplasia|Miyoshi_myopathy|Li......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81071405441122214903GC150222Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus.....0.789940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81081405471122233029GA150225Benignnot_provided..0.576480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81091405481122233066TC150226Benignnot_provided..0.574280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81101405541122240056GA150232Benignnot_provided..0.789940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81116679641122240112TC665646Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8112966811122242729TC102574Benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.844430.777220.789940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81131405591122247205AG150237not_providednot_provided..0.789940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81146679651122248548TC665830Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8115966871122271870AT102580Benign/Likely_benignnot_specified|Miyoshi_myopathy|Limb-Girdle_Mus...0.44864..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81161405571122297770GC150235Benignnot_provided0.15012.0.206470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81173041211122301807AG326025Likely_benignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph.....0.444091|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81183041301122302597GT327045Likely_benignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph.....0.567490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81193041401122303067GAG326053Likely_benignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81203041421122303200TAAGAT319915Likely_benignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81213041631122304489CG319943BenignMiyoshi_myopathy|Limb-Girdle_Muscular_Dystroph.....0.692890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81223041811122644893AAT327062Uncertain_significanceFanconi_anemia...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81233041851122645413GA319949BenignFanconi_anemia..0.949081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81243041901122645600CT326155BenignFanconi_anemia..0.971451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81253041971122646025GA313761BenignFanconi_anemia..0.703671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81262616301122647366GA254128BenignFanconi_anemia|not_specified|not_provided0.14663.0.113820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81271793291127679662TC175704Benignnot_specified0.996080.998910.995211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8128176971127679916CT32736BenignMemory_impairment,_susceptibility_to|not_speci....0.193750.201280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81292570611130255185CT254134Benign/Likely_benignnot_specified|isolated_follicle-stimulating_ho...0.528460.51420.614821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81303042801130255823AG320035Likely_benignisolated_follicle-stimulating_hormone_deficiency..0.558511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81313042811130255867CG313853Likely_benignisolated_follicle-stimulating_hormone_deficiency..0.558711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81323042831130255982AG320036Likely_benignisolated_follicle-stimulating_hormone_deficiency..0.557311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81333043011131807524CT320084BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.643170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81343043091131808235TTAAAA320089BenignCongenital_aniridia|Anophthalmia|Irido-corneo-......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81353043101131808280CT327207BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.849841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81363043171131808585AAAAAT327217BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.847841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81373043281131809070CT320108BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.173320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81383043341131809322CT327224BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.447880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81393043411131810298TA313877BenignCongenital_aniridia|Anophthalmia|Irido-corneo-.....0.660940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81406740091131812582CT665691Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81412581681131815362GA254136BenignCongenital_aniridia|Anophthalmia|Irido-corneo-...0.045920.077920.090460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81427684391132125961CT701735Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81434032191134154641CT390041Benignnot_specified0.848690.933690.860421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81445590601134460541TC549658Benignnot_provided0.631090.67490.528751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81451268671135172122GA132380associationCalcium_oxalate_urolithiasis..0.276360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81461268681135175045TC132381associationCalcium_oxalate_urolithiasis..0.276360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81471268691135179651GA132382associationCalcium_oxalate_urolithiasis..0.197480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81481268711135188191GA132384associationCalcium_oxalate_urolithiasis..0.280950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81491268721135191445CG132385associationCalcium_oxalate_urolithiasis..0.453470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81501268751135192629CT132388associationCalcium_oxalate_urolithiasis..0.539940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81511268771135221862TA132390associationCalcium_oxalate_urolithiasis..0.388180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81523045421136613807TC320476BenignHistiocytic_medullary_reticulosis|Severe_Combi.....0.613221|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81533045611136619761AG326452Likely_benignHistiocytic_medullary_reticulosis|Severe_Combi.....0.097640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81543045691144117409GT320503BenignHereditary_Multiple_Osteochondromatosis..0.085860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81553046231144283297TC326553BenignEnlarged_parietal_foramina..0.907350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81563046331144283722GA326556BenignEnlarged_parietal_foramina..0.732630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81573046441144284294TC327560BenignEnlarged_parietal_foramina..0.991811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81583046741144285432GA326607Likely_benignEnlarged_parietal_foramina..0.013780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81593046831144285594CCTTC320588Likely_benignEnlarged_parietal_foramina...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81603046861144285857TC320593BenignEnlarged_parietal_foramina..0.884781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81613046881144285887GA320598BenignEnlarged_parietal_foramina..0.755991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81623046941144286176GA326638Likely_benignEnlarged_parietal_foramina..0.199080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81633047031144289183CT320622Likely_benignEnlarged_parietal_foramina0.093360.083130.080070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81643047061144297054TC320633BenignEnlarged_parietal_foramina0.99123.0.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81653047111144331309GA320636BenignEnlarged_parietal_foramina.0.602830.372011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81663047151144331509CG320646BenignEnlarged_parietal_foramina0.424210.591440.472641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8167959031145827350AG101799Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.276920.211370.250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81682610271145832295AG254171Benignnot_specified0.216550.170980.18871|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8169959051145832509AG101801Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.143420.094150.102840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81702610261145832935GA254172BenignCongenital_disorder_of_glycosylation|not_speci...0.640210.674120.451280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81713047481145833300GA327713Likely_benignCongenital_disorder_of_glycosylation..0.031751|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81723047551145833960CT327715Likely_benignCongenital_disorder_of_glycosylation..0.12460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81733047571145834044CT314145BenignCongenital_disorder_of_glycosylation..0.720651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81743047591145834198TC326748BenignCongenital_disorder_of_glycosylation.0.774290.653751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81753047601145834201CT314146BenignCongenital_disorder_of_glycosylation.0.170130.12460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81763689621145931218TC353191Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.032350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81772595471145935384AG254173BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)|...0.811370.815450.68911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81782595461145936035GA254174Benignnot_specified|not_provided0.80660.810050.68491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81798026731145937267CT791139BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81802595441145937306CT254176Benignnot_specified|not_provided0.01976.0.013180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81817684441146342081TGT778136Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81822563151146744925GC254180Benign/Likely_benignVenous_thrombosis|Hereditary_factor_II_deficie...0.538390.602610.455270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81831439961146760756GA153726Uncertain_significanceVenous_thrombosis..0.282950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81843048381146879973AG326840BenignSyndactyly_Cenani_Lenz_type..0.582671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81853048501146890165CT320781BenignSyndactyly_Cenani_Lenz_type0.66008.0.579671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81863048551146893108TC326858BenignSyndactyly_Cenani_Lenz_type0.42531.0.367610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81873048721146898771TC326874BenignSyndactyly_Cenani_Lenz_type|not_specified0.516150.58490.445890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81883048841146914583TC320834BenignSyndactyly_Cenani_Lenz_type0.979230.988830.980831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81893048851146914598AG327831BenignSyndactyly_Cenani_Lenz_type0.995770.998870.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81901885781147354905TC186356Benignnot_specified0.078680.106920.032950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81916806471147362279AG665057Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81926806461147363285GA666044Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81936806451147369720AG666051Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8194427631147371484AGA51933Benign/Likely_benignCardiomyopathy|Hypertrophic_cardiomyopathy|Lef......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81954034581147431728AG390052BenignSpondylocheirodysplasia,_Ehlers-Danlos_syndrom...0.944130.985350.94051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81963847071147434986GA372229Benignnot_specified0.24581.0.270571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81976840341147460005TC665908Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81986691091147460098CT665909Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
81991300891147460306AG135535BenignPena-Shokeir_syndrome_type_I|not_specified|Con...0.612310.683730.62481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82001972491147463483AGA194410BenignPena-Shokeir_syndrome_type_I|not_specified|Con......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82011300911147469439AG135537BenignPena-Shokeir_syndrome_type_I|not_specified|Con...0.620110.684670.62561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82026798511147470862AC666065Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82036830701147600352AG665750Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82047684461147788663CGGTGGTC701795Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82057684481151516144AG701804Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82066680991157427955TC665910Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82073050421159611362GA314350Likely_benignIntrinsic_factor_deficiency0.058810.074720.053710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
820817421159612859TC16781BenignIntrinsic_factor_deficiency,_congenital,_susce....0.060720.102640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82092607471161133604CT254215Likely_benignnot_specified0.000460.000440.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82106719281161133980GA665081Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82116675511161135129AG665912Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82126675521161159661TC665914Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82131262961161165280GA131828BenignJoubert_syndrome|Meckel-Gruber_syndrome|not_sp...0.832280.865880.855830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82141677341161165731CCA178098BenignJoubert_syndrome|Meckel-Gruber_syndrome|Jouber...0.827620.859330.855830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82151262971161165741GC131829BenignJoubert_syndrome|Meckel-Gruber_syndrome|Jouber...0.70388.0.719650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82163050901161166306GA314380BenignJoubert_syndrome|Meckel-Gruber_syndrome..0.719650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82172609421161205434GA254221Benignnot_specified0.686590.81950.718050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82183051001161213920TC327110BenignPheochromocytoma..0.861420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82191667531161725599AATCCTCCTCC177523Benign/Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82201936661161730036GA190829BenignIron_Overload|Vitelliform_macular_dystrophy_ty...0.234270.227120.112220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8221996801161730183CT105569BenignIron_Overload|Vitelliform_macular_dystrophy_ty...0.170510.175160.101441|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8222996821161730234TC105571BenignIron_Overload|Vitelliform_macular_dystrophy_ty...0.399320.458340.591451|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82237746931161897404CT701832Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82241676001162381106GC178019Benignnot_specified|not_provided0.938470.982210.93531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82258026801162383715GC791146BenignMultiple_joint_dislocations,_short_stature,_cr......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82266843171162438819GT665916Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82273801471162439569GA374164Benignnot_specified0.679590.758560.74941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82282574961162458663AC254222Benignnot_specified0.024460.022090.009780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82292575001162459994AG254223Benignnot_specified|not_provided0.73050.77560.74941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82306781511162460066TC665751Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82317772281163449138CT701849Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82326836061163742553TG665926Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82336836081163743420AG665934Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82344028621163986713CA390006Benignnot_specified0.32632.0.31291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82354028641163988102CT390058Benignnot_specified0.15850.189890.162940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82363052131164358311CT321162BenignFamilial_renal_hypouricemia..0.386980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82373052181164358605TC321164BenignFamilial_renal_hypouricemia..0.571891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82383052251164358809GA327258BenignFamilial_renal_hypouricemia..0.385380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82393052301164359286CT327262BenignFamilial_renal_hypouricemia|not_specified0.538330.577950.387180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82403052331164360274TC328343BenignFamilial_renal_hypouricemia|not_specified0.536170.575110.385980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82413052411164367325AG328349BenignFamilial_renal_hypouricemia|not_specified0.97628.0.976841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82423052441164367862TC321203BenignFamilial_renal_hypouricemia0.318820.303310.397360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82431298331164418900GA135279Likely_benignnot_specified0.52416.0.381790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82441298371164480641GA135283Likely_benignnot_specified0.68440.724320.533551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82456807271164520255CG666092Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82466686051164520374TA665950Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82472598301164520942GT254234Benignnot_specified0.749460.812880.658951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82482598401164525216CT254236Benignnot_specified0.701990.793310.612421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82491346401164572018TC138379Benignnot_specified|not_provided0.908430.937780.834471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82501672881164572557AG177834Benignnot_specified|not_provided0.976150.992750.976041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8251962491164572602GA102143Benign/Likely_benignHyperparathyroidism|Multiple_endocrine_neoplas...0.304020.393350.307910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82523053171164578113TA321251Benign/Likely_benignHyperparathyroidism|Multiple_endocrine_neoplas.....0.197280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82533053341165485727TG327435BenignAicardi_Goutieres_syndrome..0.824881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82544028181165631973GA390090Benignnot_specified0.530780.579280.429910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82554028191165632262GT390063Benignnot_specified0.52986.0.428320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8256390151165636053TC47618BenignAutosomal_recessive_cutis_laxa_type_IA|Cutis_l...0.894490.96950.894571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82573053881165640204CT327479BenignCutis_laxa,_recessive|Autosomal_recessive_cuti....0.79170.620610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82583054001165769780TG327485BenignNestor-Guillermo_progeria_syndrome..0.417931/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82593054011165769809GC314640BenignNestor-Guillermo_progeria_syndrome..0.676921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82603054191165787666GA321354Likely_benignMale_infertility0.1720.156050.162540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82613054211165788072CT321357BenignMale_infertility0.962440.979650.93651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82623054331165790527GT321362Likely_benignMale_infertility0.454520.518550.431910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82637707701165819931GT701898Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82641298691166001418CT135315Likely_benignnot_specified0.187840.179190.211060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82651298711166006323GC135317Likely_benignnot_specified0.205480.242390.227240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82661298721166010633TC135318BenignHistory_of_neurodevelopmental_disorder|not_spe...0.982990.99540.983031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82672600571166114900CT254254Benignnot_specified0.126020.17220.139380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82687717471166191840GC701922Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82692617451166299515AG254262BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.676620.589370.612820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82703054831166300463GA314744BenignBardet-Biedl_syndrome..0.384590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82712591681166331458AG254263BenignSeizures|Ceroid_lipofuscinosis,_neuronal,_13|n...0.626560.530030.589060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82722591721166333598CT254267BenignSeizures|Ceroid_lipofuscinosis,_neuronal,_13|n...0.626560.530770.588860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82732591691166335548AG254270BenignSeizures|Ceroid_lipofuscinosis,_neuronal,_13|n.....0.582670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82742591661166335832GA254271BenignSeizures|Ceroid_lipofuscinosis,_neuronal,_13|n....0.489360.207870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82752855651166472274TC269802Benignnot_specified0.988150.996880.987821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82762625791167223920CAGC254272Conflicting_interpretations_of_pathogenicitynot_specified|Congenital_Stationary_Night_Blin......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82773056711167227006GA328807BenignCongenital_Stationary_Night_Blindness,_Recessive..0.280750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82782592051167257823CA254275BenignHereditary_cancer-predisposing_syndrome|not_sp...0.834260.954960.845451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
827948931167258382GA19932Conflicting_interpretations_of_pathogenicityDopamine_agonist_response|Hereditary_cancer-pr....0.00146.1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82802592061167258391AG254276BenignHereditary_cancer-predisposing_syndrome|not_sp...0.999770.999910.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82816831441167374156AG665148Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82826831751167377562GA665159Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82836831781167378229TG666146Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82843057651167800494TG328891BenignLeigh_syndrome|Mitochondrial_complex_I_deficiency0.9749.0.968651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82852357621167807143AAC237442Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82862354221167813930AG237106Benignnot_provided..0.819690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82872356321167814979GC237313Benignnot_specified|not_provided0.974980.992750.969851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82882586341168171013TC254279Benignnot_specified0.815370.900060.841451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82892586381168192690GA254283Benignnot_specified0.526490.675480.579271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82906737611168529358CT666162Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82916737601168529378CG665170Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82926737591168529410GGA665790Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82936780641168549019TC666165Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82941669511168549340AG177647Benignnot_specified0.9120.93130.892571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8295939751168566839GA99877Benignnot_specified.0.93750.903551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82966784701168571777GA666006Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82976689071168671104AG665799Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82982585751168671477TC254288BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.787610.758950.675121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
82996687441168673269AT665800Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83006818631168675512GC665171Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83016689081168678634CT666009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83026818781168678718GT665811Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83032585761168678962TC254293BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.778570.771890.680511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83046818841168701118CT665186Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83056818861168702632CT665187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83062585661168703959AG254303BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.246770.298830.246210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83072585701168704264CT254306BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.247610.298850.246210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83086818791168705504GT666016Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83091943681168705674CA191531BenignSpinal_muscular_atrophy|Spinal_muscular_atroph...0.21012.0.197091|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83106378901168705876GA625259Benignnot_specified...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83116818811168705936TG666017Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83126818821168706759CT665189Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83136818831168706848GA665823Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83143058681168707454TC321822BenignSpinal_muscular_atrophy..0.670931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83153058721168707626CT315023BenignSpinal_muscular_atrophy..0.196690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83167271168846399AT15766associationSkin/hair/eye_pigmentation,_variation_in,_10..0.099640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8317137551169462910GA28794risk_factorVON_HIPPEL-LINDAU_SYNDROME,_MODIFIER_OF|Colore...0.386740.455130.413541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83183058811170314597TA327887Likely_benignAutism_spectrum_disorder...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83193058891170316391AG315045Likely_benignAutism_spectrum_disorder...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83203059311170935766TC321887Likely_benignAutism_spectrum_disorder..0.746811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83213059361171145687TC315071BenignSmith-Lemli-Opitz_syndrome..0.773561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83223059401171145778GA329056BenignSmith-Lemli-Opitz_syndrome..0.743611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83233059491171146302CT329073Uncertain_significanceSmith-Lemli-Opitz_syndrome..0.004390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8324937071171146691AG99610BenignSmith-Lemli-Opitz_syndrome|History_of_neurodev...0.871190.853120.756391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83256733311171150217CT665829Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83266792821171150296CT666173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8327937191171152461AG99622BenignSmith-Lemli-Opitz_syndrome|History_of_neurodev...0.90999.0.807311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83286792811171154820GA665194Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8329937151171155153AG99618BenignSmith-Lemli-Opitz_syndrome|History_of_neurodev...0.912920.87550.81011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8330937131171155171CT99616Benign/Likely_benignSmith-Lemli-Opitz_syndrome|History_of_neurodev...0.626910.571850.400961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83316676561171155641AG666175Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83323059691171159429GA327973Likely_benignSmith-Lemli-Opitz_syndrome..0.353441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83336834701172118827CA665207Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83343060341174166278GA315142Likely_benignBrugada_syndrome..0.596051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83353060351174166320TG329246Likely_benignBrugada_syndrome..0.424720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83363060451174166859AG328028Likely_benignBrugada_syndrome..0.595650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83373060461174166866GA321937Likely_benignBrugada_syndrome..0.567090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83383060631174167374CCAAAA329302Uncertain_significanceBrugada_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83393060661174167409TC328059Likely_benignBrugada_syndrome..0.566690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
834055411174168361CT20580Conflicting_interpretations_of_pathogenicityVentricular_fibrillation|Syncope|Cardiomyopath....0.002970.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83416835551174168982TC666203Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83421951411175277628AG192302Benignnot_specified|Osteogenesis_Imperfecta,_Recessive0.913010.899520.889980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83433061051175277992CT315181Benignnot_specified|Osteogenesis_Imperfecta,_Recessive0.42570.439990.299320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83446675951175279539CT666211Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83456675961175280478TA666214Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83463061151175283253AG328131BenignOsteogenesis_Imperfecta,_Recessive..0.24780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83472592251176827360AG254323Benignnot_specified0.318240.313750.355430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8348432581176853783TC52428BenignUsher_syndrome,_type_1|Retinitis_pigmentosa-de...0.46859.0.513580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8349433431176868372TC52513BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.47559.0.474040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83506806601176869774CG665243Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83516788211176870634TC666050Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83526806611176872414CG666223Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83536703531176873620TC666240Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83546806641176874296AG666056Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83556788221176876976GGT665244Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83566806621176877491TC666061Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83576788231176884122AT666242Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83582556611176885779GA254327Benignnot_specified|not_provided0.528030.54320.485620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83596788241176886718GA666248Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83606703551176890242TC666255Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83616788251176890400TC666068Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83626806631176890444AG665245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83636788261176891585GA666070Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83646788271176891661AG665840Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83656703561176892368CG666071Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83666703571176892943AG666073Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83676788291176893401GA666262Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83682556621176894235GC254328Benignnot_specified|not_provided0.61907.0.555110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83696806681176900078GA665847Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83706788301176900267GA665248Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83716703591176901273CT666076Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83726788311176901623TTGCTGGGGCCTGGAGC666267Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83736703601176901648CG665848Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8374432261176901927CT52396BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.485530.537610.468450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83756703611176902024GA665852Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83766788321176902853AG666272Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83776788331176902927CT666078Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83786703771176903003CG665250Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83792556631176905604GT254329Benignnot_specified|not_provided0.581570.564490.545330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83806703791176905725CT665252Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83816739001176908319CG665854Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83826739011176908324AG665856Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83836739021176908976CA666274Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83846806691176910319CT665258Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8385432571176910766CT52427BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.457320.508290.432510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8386432691176912636AT52439BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.589110.543990.551720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83876788351176913098TC665861Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83886703811176915436CG665872Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83896788381176916424AG665262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83906703821176916967AG665877Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8391432961176917220AG52466BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.553730.523210.554910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83926806701176918072GC665878Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8393432971176918322TC52467BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.632950.632980.593450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83942556641176918497GA254330Benignnot_specified|not_provided0.574570.539130.512980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8395433031176919468AT52473BenignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.559650.56750.512980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8396433041176919478CA52474BenignDeafness,_autosomal_recessive_2|Retinitis_pigm...0.54921.0.4990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83976743871176919619GA666080Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
83986743881176919629CT665881Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8399433151176919865TA52485Benignnot_specified0.564790.544520.512980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84006788391176920003TC665263Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84016788401176920038TG666083Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84026788411176920082CG666087Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84036806711176920111GA666279Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8404433231176922868CT52493Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.031630.026730.015970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8405433241176922946GA52494Benign/Likely_benignRetinitis_pigmentosa-deafness_syndrome|not_spe...0.246830.180560.195690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84062556651176924130AT254331Benignnot_specified|not_provided0.872560.904480.807711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8407433321176925040GA52502Benignnot_specified0.188370.200050.111021/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84086703851176925075GT665884Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84096806751176925395TC666287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84103062101176926245CT315259Likely_benignRetinitis_pigmentosa-deafness_syndrome|Nonsynd.....0.033950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8411960881177811990TC101982BenignCongenital_disorder_of_glycosylation|Congenita...0.880390.831910.832671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84122616831177820670TC254333Benignnot_specified0.228740.195260.258590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84132616841177820673TC254334Benignnot_specified0.228970.194710.258390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84142616821177825064AG254335Benignnot_specified0.224360.225370.258790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8415960921177825320TC101986Benign/Likely_benignCongenital_disorder_of_glycosylation|Congenita...0.176530.199080.146370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84162616801177832076TA254337Benignnot_specified0.999920.9999911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84176676381178204406CT665895Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84186826591178204561AG666301Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84196826581178270304AG665276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84203800011178277277AG371732Benignnot_specified0.734170.716240.650561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84213800001178279790TG372457BenignCombined_oxidative_phosphorylation_deficiency_...0.790710.738170.710061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84226826561178285096TG666099Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84233799991178285875AT372729Benignnot_specified..0.608431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84246716021185339344CT666324Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84256841921185339380TA666328Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84266716031185340591CT666122Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84276716041185342959TC665901Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84282152691185359094AAGACC211570Benignnot_specified|Optic_Atrophy,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84296764421185366516CG666342Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84302620221185366762AG254360Benignnot_specified|Optic_Atrophy,_Recessive|not_pro...0.256080.285380.3760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84314032971185692181AC390064Benignnot_specified0.60328.0.62280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84324032981185718641TC390024Benignnot_specified0.16913.0.232030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84334032991185725937CT390092Benignnot_specified0.83410.786120.788741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84343063351186657520AG328331BenignFamilial_exudative_vitreoretinopathy..0.509981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84353063501186658243TCAAACAAATCAAA,T315395Uncertain_significanceFamilial_exudative_vitreoretinopathy...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
84363063651186659213AG315414BenignFamilial_exudative_vitreoretinopathy..0.193090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84373063851186660886GA315440BenignFamilial_exudative_vitreoretinopathy..0.703671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84382581911188033661AG254362Benignnot_specified0.86529.0.930110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84394025721188045583AG389960Benignnot_specified0.864080.886080.930910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
844037831188910923CA18822BenignTyrosinase-negative_oculocutaneous_albinism|no.....0.18590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
844137791189017961GA18818Conflicting_interpretations_of_pathogenicityAlbinism|Abnormality_of_metabolism/homeostasis....0.176970.081271|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
844237771189017973CT18816Pathogenic/Likely_pathogenicInborn_genetic_diseases|Oculocutaneous_albinis...0.003620.003490.0020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84435182451193527219TC508868BenignMicrocephaly,_postnatal_progressive,_with_seiz...0.93991.0.933111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84441295971193529655GA135043BenignMicrocephaly,_postnatal_progressive,_with_seiz...0.109790.118530.113221|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84453064501194150790TC315480BenignAtaxia-telangiectasia-like_disorder_1..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84461938841194197260AG191047BenignAtaxia-telangiectasia-like_disorder_1|not_spec...0.352130.378310.388780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84471296231194212048CT135069BenignAtaxia-telangiectasia-like_disorder_1|not_spec...0.269580.325230.31310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84482597981194225920CT254368Benignnot_specified0.41014.0.457270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84494031031194231257CG390028Benignnot_specified0.589780.541090.547520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84508027131195564259AG791184BenignMosaic_variegated_aneuploidy_syndrome_2...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84513065051195566502CT329846Likely_benignCharcot-Marie-Tooth_disease_type_4..0.020170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84523065061195566520AG315510BenignCharcot-Marie-Tooth_disease_type_4..0.203471|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84533065111195566886GA315515BenignCharcot-Marie-Tooth_disease_type_4..0.202481|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84543065141195567035CT328558BenignCharcot-Marie-Tooth_disease_type_4..0.203470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84553065271195567905CT328580BenignCharcot-Marie-Tooth_disease_type_4..0.202080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84566832201195568757CA665290Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84576832181195569183GA666350Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84586832191195569253AC665292Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84596687511195570961GA665907Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84606832171195577929TC666355Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84612606851195580926GA254369BenignCharcot-Marie-Tooth_disease,_type_4B1|Charcot-...0.298050.297990.209270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84626832151195583995AG665294Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84636843841195594831AG665928Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84646734471195595694TC666372Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84656832131195598629AG666132Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84662606861195657111TG254370BenignCharcot-Marie-Tooth_disease,_type_4B1|Charcot-...0.23982.0.212860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84677684711199690428TG702050Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
846830188411101322975CCTAAA312031BenignFocal_segmental_glomerulosclerosis...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
846916214611102470256AG171859not_providednot_provided..0.12660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847025953911102495998TG253985Benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.63742.0.676520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847140309911102593248TC389935Benignnot_specified0.553450.542350.600040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847240310011102595492GA389939Benignnot_specified0.622650.597150.654350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847340309211102666316TC389957Benignnot_specified0.958630.930360.931310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847440309311102668022CT389961Benignnot_specified0.083130.058370.072280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847580271511102668603CACAA,C791023BenignPreterm_premature_rupture_of_membranes...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
847666769111103004929CG665391Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847730201811103006557GA312103Benign/Likely_benignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.032270.043140.041530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847866769311103019633AG665389Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
847966769411103023735AT664787Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848066944411103024489GT665661Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848166944611103025666AC665396Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848219600911103029516AG193170BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.672080.712630.668330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848337942011103036743CG371669Benignnot_specified|not_provided0.021970.020950.014580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848430204011103039680TC312117Conflicting_interpretations_of_pathogenicityShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.000170.0003.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848566769511103041197TC665407Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848666771411103042047TC665664Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848767403111103043599GA665409Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848816701111103047007CA177681BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.944620.917830.931311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
848966771611103050219GC665665Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849030205611103057048AG312136BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.59755.0.571490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849166771711103057411TG665411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
84929352911103058126CT99434BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.643770.632960.617010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849366771811103059091AG664814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849466771911103061960GC665461Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849566772011103068444GA664817Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849666945011103068941GA665687Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849766945111103070545AG665422Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849866772111103074639CA665425Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
849966772211103074658AG665434Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850066772311103075233TA664819Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850130207311103082590GA317856BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.754440.787350.738421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850266772411103086725CG665690Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850366772511103090472AC665696Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850466772611103090885GA665699Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850566772711103090972AT664820Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850666772811103092572GA665700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850766774611103093490AT665468Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850866774711103094140CG665441Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
850966774811103101868GC665473Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851066945211103102327AATAT665444Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851166775111103116366CT665477Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85129352711103123999GT99432BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.387540.376450.429310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851366775211103124328TC665467Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851466945611103150870GT665475Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851566775511103151437CT665720Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851666945711103152598GA665481Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851766775611103158542AC665486Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851866992211103173558GA665488Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
851966775911103178820GA665491Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852066992311103182320AG665726Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85219352811103182774CA99433BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.1235.0.133590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852266777611103183045TG665730Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852366778611103192089GC664847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852466778811103194949TC665747Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852530211711103229027TC317899BenignShort_Rib_Polydactyly_Syndrome|Jeune_thoracic_...0.558420.658910.495011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852666779011103229238GA665754Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852766993011103229274TC664854Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852866780811103229313TA664858Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
852922601311103418158AG227832drug_responsePlatinum_compounds_response_-_Toxicity/ADR|eto.....0.43711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853040249111104761100TC389897Benignnot_specified.0.999390.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8531217111104763117GA17210Likely_benignSepsis,_susceptibility_to|not_specified.0.985620.948481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853263262411108012510AAAAGT621797Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853330224011108093833GA318028BenignAtaxia-telangiectasia_syndrome|not_provided..0.476041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853418184711108121410CCT,CTT180398Benign/Likely_benignHereditary_cancer-predisposing_syndrome...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
853543941811108143182CT433369BenignAtaxia-telangiectasia_syndrome..0.652561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853618185711108150207CTC180439Benign/Likely_benignAtaxia-telangiectasia_syndrome|Hereditary_canc......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853718185811108151707TTA180443Benign/Likely_benignAtaxia-telangiectasia_syndrome|Hereditary_canc......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853848953611108152582CT482779BenignHereditary_cancer-predisposing_syndrome..0.511581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
853951663311108158134TC503053Benignnot_specified|not_provided..0.511781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854012845811108175462GA133907Benign/Likely_benignAtaxia-telangiectasia_syndrome|Hereditary_canc...0.102320.110140.066890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854113362711108183167AG137366Benignnot_specified|not_provided.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854263264911108196509GC621801Benignnot_specified..0.534941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854363305511108196712CATTC621803Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854430226511108236783GT324952BenignAtaxia-telangiectasia_syndrome..0.518371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854530227211108237839CT324093BenignAtaxia-telangiectasia_syndrome..0.518171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854630228511108238939AAT312262Uncertain_significanceAtaxia-telangiectasia_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854730229911108239628GT324138BenignAtaxia-telangiectasia_syndrome..0.534551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854822594211108283161CA227817drug_responsemetformin_response_-_Efficacy..0.468451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
854930233311110101670GAG318158Likely_benignNonsyndromic_Hearing_Loss,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855030237911111654620CTATATC318212Likely_benignCongenital_disorder_of_glycosylation...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855130238211111654641GTG325030Uncertain_significanceCongenital_disorder_of_glycosylation...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855230238511111654648TA324294Uncertain_significanceCongenital_disorder_of_glycosylation...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855367247711111780837GA665558Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85544423411111781047AC53401BenignPosterior_polar_cataract|Alpha-B_crystallinopa...0.27239.0.239821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855568026411111782697GC665554Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855668373211111914449GA665556Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
85574464811111966307TC53815BenignPheochromocytoma|not_specified..0.93611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855819843611113283459GA195597Benign/Likely_benignnot_specified0.408880.415770.244011|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
855925681411113283477AG253992Benignnot_specified0.596280.641110.526561|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856025681311113283484GC253993BenignDystonia|not_specified0.016930.026410.031750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856122596311113346351TC227820drug_responsenot_specified|risperidone_response_-_Efficacy..0.119010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856250810911113561054AG503143Benignnot_specified0.736150.69590.770171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856350810811113561057AG504043Benignnot_specified0.73480.696140.770171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856450814611113565322CA503152Benignnot_specified0.097320.090120.089460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856550810711113570405TC503712Benignnot_specified0.742130.731570.770771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856650810611113570852CT503716Benignnot_specified0.200230.343070.213860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856777786011113815354TG701564Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856812714111116660686GA132639risk_factorHypertriglyceridemia,_susceptibility_to..0.87421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
856949649511116662331GT487403Benignnot_provided0.102390.109720.090660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8570440311116662407GC19442risk_factorHypertriglyceridemia,_susceptibility_to..0.055710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857154811411116663707GA538603drug_responselovastatin_response_-_Efficacy|atorvastatin_re.....0.837061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857251823511116701535TC508859BenignHyperalphalipoproteinemia_2|not_provided0.740650.65420.597050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857326047511117252489TC253998Benignnot_specified0.935930.912390.901360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857426048311117266754AC254004Benignnot_specified0.627830.551860.527360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857526048511117267884AG254006Benignnot_specified0.533860.485190.463260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857626049011117282800GT254011Benignnot_specified0.96460.93830.908350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857730251511117690918AC318307BenignRenal_Hypomagnesemia,_Dominant..0.192891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857830254611117864047AG318326BenignInflammatory_bowel_disease|not_specified0.501390.527340.516771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
857930255411117869670AG318357BenignInflammatory_bowel_disease|not_specified0.728450.738140.81111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858030258011117872086GA318366BenignInflammatory_bowel_disease.0.502020.55971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858130258411118004463CT324524Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.007870.0020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858230258511118004688AG324528Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.66820.640780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858330259111118004863AG312473Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.23340.159550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858430259411118005119TC318395Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.231280.157350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858530260411118005622TG312477Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.231960.159340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858630261511118006408CT312485Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.433750.419730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858730262911118006807AAGGGGGAGAAGC312495Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.291270.284740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858830263511118006957CT318464Likely_benignLong_QT_syndrome|Romano-Ward_syndrome.0.658170.616210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
858967191611118011776GA665565Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859067191511118011805CT665604Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859167191411118012164GA665568Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859240341911118016068CT389847Benignnot_specified|not_provided.0.681980.68490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859325944611118037813GT254012Benignnot_specified0.438110.502190.514381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859451823611118209960AC508860BenignSevere_combined_immunodeficiency,_autosomal_re...0.614070.675210.62581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859530267811118215075AGGCTA312525Benign/Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma|Se......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859647479911118221349TGCT460944Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859730268811118224059AG318503Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma..0.072080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859830269311118224268GT324614Likely_benignImmunodeficiency_due_to_defect_in_CD3-gamma..0.297721|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
859976848911118529017TG701599Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860037717011118533594TC364048Likely_benignnot_provided0.004150.007140.00160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860140241211118769442AG389959Benignnot_specified0.48590.424620.444090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860230270111118895495CG318535BenignGlycogen_storage_disease,_type_I..0.283550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860313919211118895686CT142895Benignnot_specified0.255720.218750.24780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860413919011118898319GA142893Benignnot_specified0.115850.105660.077480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860580137011118898435ACA789809Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860677960311118900338GA779515Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860730271811118901166CG325405BenignGlycogen_storage_disease,_type_I..0.849641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860825548711118959331GA254014BenignAcute_intermittent_porphyria|not_specified0.625170.558060.572881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
860925548611118962816CA254016BenignAcute_intermittent_porphyria|not_specified0.22633.0.31470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861056149311119144402AG552641Benignnot_provided..0.987221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86115579611119148573GT70452BenignNoonan_syndrome-like_disorder_with_or_without_...0.624580.601120.728630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861230279211119170855TTGG324752BenignNoonan-Like_Syndrome_Disorder...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861330281811119172536AG312630BenignNoonan-Like_Syndrome_Disorder..0.219250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861430282911119173587CG325571Likely_benignNoonan-Like_Syndrome_Disorder..0.007390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861530285211119175075CA318699BenignNoonan-Like_Syndrome_Disorder..0.396770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861630285811119175422TC312665BenignNoonan-Like_Syndrome_Disorder..0.99941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861730290111119177938AG318734BenignNoonan-Like_Syndrome_Disorder..0.232430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861830290211119178050CG324826BenignNoonan-Like_Syndrome_Disorder..0.412140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
861919859611119215476GA195757Conflicting_interpretations_of_pathogenicityRetinal_degeneration|Microphthalmia,_isolated_...0.002160.002820.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862016729711119216231AG177837Benign/Likely_benignRetinal_degeneration|Microphthalmia,_isolated_...0.9277.0.901961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862114315711119216279GA152875Benign/Likely_benignRetinal_degeneration|Microphthalmia,_isolated_...0.22505.0.201480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862216729911119216504CT177134Benign/Likely_benignRetinal_degeneration|Microphthalmia,_isolated_...0.246380.266360.182110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862330298211119217254CT325780Likely_benignRetinal_degeneration|Microphthalmia,_isolated_60.567290.595090.635580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862430298711119217311GA324926Likely_benignRetinal_degeneration|Microphthalmia,_isolated_6..0.583870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862580280811119510644AC791116BenignCleft_lip/palate-ectodermal_dysplasia_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
862622596711120663363TC227821drug_responsenot_specified|antidepressants_response_-_Efficacy..0.50220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86274531511120996292AG54482Benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.770690.711650.772170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86284531911120998942CT54486Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.257380.308750.31030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86294532311121000784TC54490Benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.746310.70410.75140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86304533611121032978GA54503BenignDeafness,_autosomal_dominant_12|not_specified|...0.992080.992670.996811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86314533811121038810CT54505Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.098820.168960.18530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863230305711121178302AC312876BenignLathosterolosis..0.724641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863330307011121179847AT318905BenignLathosterolosis..0.422130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863430309911121181848AG325089BenignLathosterolosis..0.156950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863530310811121183145TC318954BenignLathosterolosis..0.393370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863667183811123504673CG664951Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863767095011123504959CG665579Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863867183711123505099CT664953Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
863926102811123513161GA254022Benign/Likely_benignBrugada_syndrome|not_specified|Cardiovascular_...0.090220.08960.082070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864067431611123513512GA664964Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864176849311123894136AG701641Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864230326211124747837GA326080BenignGaze_palsy,_familial_horizontal,_with_progress...0.72880.678530.631991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864330327911124750447CCGGAGTC325249BenignGaze_palsy,_familial_horizontal,_with_progress......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864430328911124789232AAAAAC313075BenignMegalencephalic_leukoencephalopathy_with_subco......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864530329511124789755TC326092BenignMegalencephalic_leukoencephalopathy_with_subco...0.754810.737120.798921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864630331911124790922CA326109BenignMegalencephalic_leukoencephalopathy_with_subco.....0.18850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864726268211124792627GA254025BenignMegalencephalic_leukoencephalopathy_with_subco...0.153920.106350.142970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864826268111124793682TC254026BenignMegalencephalic_leukoencephalopathy_with_subco...0.751920.728610.793931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
864926268011124793716GA254027BenignMegalencephalic_leukoencephalopathy_with_subco...0.22262.0.135981/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865038726911125462830AG372271Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865138001211125465862TC372052Benignnot_specified0.115690.07450.104630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865238001311125465905GT372273Benignnot_specified0.075460.059930.058310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865338001411125476252CG373936Benignnot_specified0.115.0.103630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865438001511125479363GA372061Benignnot_specified0.412690.36940.419331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865538003111125479496CT373938Benignnot_specified0.289850.296280.308310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865638001611125482650GA373944Benignnot_specified0.075690.059810.057510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865738001711125488404CT372289Benignnot_specified0.122690.076290.111220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865849613911125525195AG487497Benignnot_provided0.973850.97260.985821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
865930334711125753589CT319169BenignHydrolethalus_syndrome..0.854431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866030335111125761318GGTT313115BenignHydrolethalus_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866130336811125770425AC319178BenignHydrolethalus_syndrome..0.169130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866236894211125826702GA353171BenignHoloprosencephaly_sequence..0.49721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866330337411125826785GA326221Likely_benignHoloprosencephaly_sequence..0.240220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866430337811125826953AC313133BenignHoloprosencephaly_sequence..0.272561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866530337911125826975CA325340Likely_benignHoloprosencephaly_sequence..0.032551/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866630339711125828007TC326250BenignHoloprosencephaly_sequence..0.505591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866730340011125828097AG313146BenignHoloprosencephaly_sequence..0.518570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866830345011125828904TC325385BenignHoloprosencephaly_sequence..0.495010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
866930348111125830227AAT326386Uncertain_significanceHoloprosencephaly_sequence...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867030348811125830697TC319273Likely_benignHoloprosencephaly_sequence..0.242411|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867126079911125830970AT254031BenignHoloprosencephaly_sequence|Holoprosencephaly_1...0.730.73099.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867226079711125831701GA254033BenignHoloprosencephaly_sequence|not_specified0.25308.0.242210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867326079311125848261CT254035BenignHoloprosencephaly_sequence|not_specified0.356460.414290.399560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867426079211125851055AG254036BenignHoloprosencephaly_sequence|not_specified0.3340.258170.268170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867526079111125851181GA254037BenignHoloprosencephaly_sequence|not_specified0.334.0.267570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867626078811125864326TC254040Benignnot_specified0.294460.327450.31211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867726078611125867053GT254042Benignnot_specified0.92085.0.941491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867826078411125871735CT254044BenignHoloprosencephaly_sequence|not_specified0.345390.312690.302520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
867919372411125873968CG190887Conflicting_interpretations_of_pathogenicityHoloprosencephaly_sequence|not_provided0.000540.00062.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868030351711125875959GGAGAG319328Uncertain_significanceHoloprosencephaly_sequence...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868126079411125891103CCA254054Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86829575311125891162AG101650Benign/Likely_benignHoloprosencephaly_sequence|Holoprosencephaly_1...0.040540.037120.026360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
86839575211125891269CT101649BenignHoloprosencephaly_sequence|not_specified0.645150.557320.572280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868430353211126139100TC313196BenignMitochondrial_complex_I_deficiency|not_provided0.694880.789070.786141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868567808911126141134AAAAGG665832Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868630354711126147697GA313203Likely_benignMitochondrial_complex_I_deficiency..0.131390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868725767311126277216CT254057Benignnot_specified0.319360.316180.346250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868825767411126278075CT254058Benignnot_specified0.317590.313950.344850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
868912942511126294817GA134871Likely_benignnot_specified0.664830.671280.703670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869012942711126391297TG134873Likely_benignnot_specified0.279950.270420.224840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869130355311128707975GC325499BenignAntenatal_Bartter_Syndrome..0.164340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869230355411128708009GA313219BenignAntenatal_Bartter_Syndrome..0.157350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869330355611128708344TC313220BenignAntenatal_Bartter_Syndrome..0.166530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869430356111128708518CCTTG313240BenignAntenatal_Bartter_Syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869530356711128708947TA326461BenignAntenatal_Bartter_Syndrome..0.166530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869613799011128781339TC141693BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.848260.843560.869811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869713799111128781978TG141694BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.842720.841440.866211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869813799211128782002TC141695BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.843950.841590.867011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
869913799311128782012CG141696BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.987070.986480.995011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870067220611128782214GA665653Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870113799511128786294GA141698BenignRomano-Ward_syndrome|Familial_hyperaldosteroni...0.747850.73460.735821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870230364011128787001TTC325560BenignRomano-Ward_syndrome|Familial_hyperaldosteronism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870330364111128787036CT313305BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.87521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870430364811128787405GT313312BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.155951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870530364911128787430GT325562BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.735421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870630365211128787554CT326565BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.854231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870730366011128787689GA326575BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.682311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870830366811128787963ACA319444BenignRomano-Ward_syndrome|Familial_hyperaldosteronism..0.739821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
870977667911129801022TC701660Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871051823711130064647GA508861BenignIchthyosis,_congenital,_autosomal_recessive_110.770470.843270.832870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871151823811130066335CT508862BenignIchthyosis,_congenital,_autosomal_recessive_110.568650.690450.638980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871231053312862641TG318492BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.339861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871326106912862989TC254719BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.97240.992390.975641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871413792712863152GA141630BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.08020.163330.074480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871567058912863517GA666857Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871667059012936468CG666860Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871768129012938910TA667225Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871826106612939302AG254728BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.685530.745090.693491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
871967030312966097AG667226Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872067030412966124TC666864Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872113792212968400CA141625BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.113680.149230.093451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872213792312968489TC141626BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.115430.148760.093451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872326106712987482GA254731BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.67953.0.679511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872421853312987533CCT215458Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872553853112988558CT527667BenignPseudohypoaldosteronism_type_2C|Hereditary_sen.....0.528951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872613792612994014CT141629BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.11180.155420.115821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872726107212994487GC254767BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.986080.996340.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872867030912996205AT666189Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
872967031012999762AG666984Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8730670311121003978TC666998Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8731261074121017197CT254769BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.986160.996430.987021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8732306711121019944GA333103BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.987221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8733306723121020266TC333107BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.119211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8734307801121901392TTCTC331332BenignCone_dystrophy_3...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8735307803121901434CT329967BenignCone_dystrophy_3..0.3741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8736307806121901485GT331342BenignCone_dystrophy_3..0.37461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8737307811121901618CGC331346BenignCone_dystrophy_3...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8738307819121902164CT323961BenignCone_dystrophy_3..0.37221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8739307828121902766TG331357BenignCone_dystrophy_3..0.383991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8740262820121995403TC254464BenignCone_dystrophy_3|not_specified0.91647.0.93711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8741683258122162369GA665591Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8742683259122163032GA666235Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8743695132122224063CG685312Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
874493412122558186GA99319BenignBrugada_syndrome|Timothy_syndrome|History_of_n...0.17570.207370.120411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8745671977122558475GA666491Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8746683261122558567TC665692Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8747683274122595011AC666364Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8748671970122602179GA665693Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8749683275122613329AG666496Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8750671783122613521AG665698Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8751764556122656887TG775881Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8752695133122659044TGT685328Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8753764565122659622GA776028Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8754764686122659942CT775962Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8755764557122660096CG775888Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8756671798122666348AG666499Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8757683263122666407TA666380Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8758671799122676683CT666393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8759683270122677264AG665735Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8760671800122690702GA666510Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8761695135122691260CG685335Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8762670939122692186TG665737Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8763671801122706720GC665749Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8764794112122750621CT787803Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8765764840122751125GA775834Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8766683271122757371AC666773Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8767671806122757756TC666775Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8768671807122757769TC666531Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8769671808122757782CT665763Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8770676054122757885CT666413Benign/Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8771673265122760508GA666423Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8772670958122760708GA666426Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8773670940122760970GA665766Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8774695136122764001GA685362Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8775671809122773855GA666431Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8776670934122774668CA665770Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8777673266122777768AG666436Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8778669624122778504GGA666783Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8779671810122783476TC666785Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8780671811122783972TC666786Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
878193413122788879GA99320BenignBrugada_syndrome|Timothy_syndrome|History_of_n...0.581120.695280.526360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8782136640122791205AG140343Benignnot_specified0.999810.999911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8783671813122798151GA666796Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8784308169122800649CT330335BenignBrugada_syndrome|Timothy_syndrome|not_provided..0.883391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8785308174122801016CCGCCGCCGGGAAGGG330349BenignBrugada_syndrome|Timothy_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8786308236122804638AG324323BenignBrugada_syndrome|Timothy_syndrome..0.948281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8787308251122805196TA330445BenignBrugada_syndrome|Timothy_syndrome..0.771171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8788308267122806335AC316806BenignBrugada_syndrome|Timothy_syndrome..0.966851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8789678294124383036CT656161Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8790380772124388084CG375127Benignnot_specified0.32631.0.219850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8791308779124478080TA324849BenignTumoral_calcinosis,_hyperphosphatemic,_familia.....0.204671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8792308803124479549GA330952BenignTumoral_calcinosis,_hyperphosphatemic,_familia...0.105340.123880.147360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8793138447124768193AT142150Benignnot_specified|not_provided0.270920.246290.224040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8794138448124768354AC142151Benignnot_specified0.633730.718570.706070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8795671789124768511AG666700Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8796682711124768577GA666628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8797682712124768619AG666955Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8798682713124771431AG666635Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8799671790124771456GA665961Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8800138449124771682GA142152Benignnot_specified0.368980.425130.346850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8801682714124778627AG666708Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8802682725124791673AG666965Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8803682728124794733AG666968Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
880421130125021348GC33982BenignEpisodic_ataxia|Myokymia|not_specified|not_pro...0.50346.0.533350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8805129313125021984TA134759BenignEpisodic_ataxia|Myokymia|Episodic_ataxia_type_...0.74250.738520.820490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8806258594125154462TC254607Benign/Likely_benignAtrial_fibrillation,_familial,_7|Familial_atri...0.9847.0.981031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8807309342125155663AT333135Likely_benignFamilial_atrial_fibrillation..0.219050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8808440406126058913GA433116Benignnot_specified0.105260.079260.100040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8809440405126058920AG433117Benignnot_specified0.105950.079450.101040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8810256704126060960GA254648Benignnot_specified0.140170.135090.116810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8811256703126061069TG254649Benignnot_specified0.186220.194960.162341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8812256702126061559CT254650Benign/Likely_benignvon_Willebrand_disorder|not_specified0.04490.059340.044730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8813256696126091000AG254656Benign/Likely_benignvon_Willebrand_disorder|not_specified0.843920.868710.825081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8814256695126091164GA254657Benign/Likely_benignvon_Willebrand_disorder|not_specified0.249730.335410.303321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8815256693126094845GA254659Benign/Likely_benignvon_Willebrand_disorder|not_specified0.76711.0.700681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8816256688126105387GA254663Benign/Likely_benignvon_Willebrand_disorder|not_specified0.356070.457660.456070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8817256661126145529GA254687Benignnot_specified0.697220.70290.75320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8818256658126153659GT254690Benignnot_specified0.46393.0.530750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8819256657126161963GGAGA254691Benign/Likely_benignvon_Willebrand_disorder|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8820256654126172202TC254694Benign/Likely_benignvon_Willebrand_disorder|not_specified0.50861.0.518771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8821619927126234889CT611318Benignnot_provided..0.443690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
882237038126440009TC45724Benign/Likely_benignMultiple_sclerosis,_susceptibility_to,_5|not_s...0.387590.362120.299721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8823257326126450945TC254705Benign/Likely_benignnot_specified|Familial_Periodic_Fever0.404120.37550.301521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8824675609126451590AC667205Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8825165164126457062TC175889BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.76286.0.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8826165165126464581CT175749BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.17630.089870.192290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8827402517126560473AG390154Benignnot_specified0.99170.992610.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8828402518126560573GT390068Benignnot_specified0.40964.0.360020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8829675808126954624GA667211Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8830226004126954875CT227813drug_responsesildenafil_response_-_Efficacy|not_provided0.449790.359770.492210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8831310372126980075GGA326542Uncertain_significanceTriosephosphate_isomerase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8832310415127342636TA318422Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.036541|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8833310452127363574CG334493BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.432110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8834261353128757481GA254729BenignImmunodeficiency_with_hyper_IgM_type_2|not_spe...0.549350.590430.484231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8835261352128759445CT254730BenignImmunodeficiency_with_hyper_IgM_type_2|not_spe...0.540150.532330.632590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8836369029128765447TC353258BenignImmunodeficiency_with_Hyper-IgM0.99496.0.995411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8837381191128808006TC375428Benignnot_specified0.404740.416530.429310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8838674904128808222CT667237Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8839561550128975605AG552696Benignnot_provided..0.358031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8840384687128975901CT372586Benignnot_provided0.045520.089180.130190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8841561804128976764AG552698Benignnot_provided..0.617010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8842561805128976780TC552699Benignnot_provided..0.361220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8843561806128987550TC552702Benignnot_provided..0.909351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8844561551128988403AC552706Benignnot_provided..0.948881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8845561807128988542CG552707Benignnot_provided..0.948481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8846561539128988777AG552709Benignnot_provided..0.846051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8847561552128989916AG552711Benignnot_provided..0.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8848561533128990813AG552713Benignnot_provided..0.856431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8849561553128991246CT552714Benignnot_provided..0.826481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8850561534128991970GA552716Benignnot_provided..0.826881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8851561535128991998CA552717Benignnot_provided..0.932911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8852561809128992122CCT552718Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8853561810128992130TAGAT552719Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8854561520128994212TC552720Benignnot_provided..0.934311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8855561521128995523CG552722Benignnot_provided..0.432111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8856383777129004512GA373491Benignnot_provided0.807820.870030.868211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8857561554129004667GC552737Benignnot_provided..0.516370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8858561555129007031CG552739Benignnot_provided..0.513780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8859561527129008318GC552742Benignnot_provided..0.512980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8860561568129013329GA552747Benignnot_provided..0.116210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8861384669129013755CT373500BenignOtitis_media,_susceptibility_to|not_provided0.301650.432110.432310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8862561569129016665GC552752Benignnot_provided..0.100040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8863384670129020489AG375466Benignnot_provided0.777460.859110.852641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8864384671129020912AG373525Benignnot_provided0.746480.735210.677720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8865561565129021256CT552762Benignnot_provided0.444660.412670.404550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8866561570129021430GC552764Benignnot_provided..0.18930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8867561566129021525CA552765Benignnot_provided..0.404350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8868211899129083336AG208005Benignnot_specified.0.73354.1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8869769813129317885GA702542Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88705902871210251445CG581228risk_factorAspergillosis,_susceptibility_to0.885820.767920.670531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88714025431210271055TC390101Benignnot_specified0.859830.741490.640581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88723076581212870695TC331119BenignMultiple_endocrine_neoplasia|Multiple_endocrin.....0.661741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88733077181213714729TC323803Likely_benignIntellectual_Disability,_Dominant..0.891371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88743077231213715308AC331211Likely_benignIntellectual_Disability,_Dominant..0.274961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88751292041213716638GA134650Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe...0.40151.0.24760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88766760421213720422AG666226Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88776816471213723127TC666625Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88781292001213764774GA134646Benign/Likely_benignHistory_of_neurodevelopmental_disorder|Mental_...0.28010.264660.19010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88791375161213828659TC141219Benignnot_specified0.154930.157660.103831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88801292051214018777GC134651Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe...0.43103.0.441490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88814029151214781678GGA390540Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88824029161214794062GA390087Benignnot_specified0.819620.941090.823481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8883177301214993439CT32769AffectsBlood_group,_Dombrock_system.0.349030.292730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88843077591215034521TA331251BenignKeutel_syndrome..0.324080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88852843691215035081TC268606BenignKeutel_syndrome|not_specified0.437260.379960.385380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88863077731215037187TTA331322BenignKeutel_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88873077761215038788CT323908BenignKeutel_syndrome0.341.0.262180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88883078841220966548CT316532BenignRotor_syndrome..0.697090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88894402871220968665GTTTAG433930Benignnot_provided.0.219890.184110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88902611841221011480TG254467BenignRotor_syndrome|not_specified0.722930.804460.702481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88912611851221013948CT254468BenignRotor_syndrome|not_specified0.722240.806560.702281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88922611861221015760GA254469BenignRotor_syndrome|not_specified0.722820.804360.702481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88938107341221017875TC798983BenignGilbert's_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88943078961221028208GC316533Benign/Likely_benignRotor_syndrome|not_specified0.114330.113160.065690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88952611831221036411AG254470BenignRotor_syndrome|not_specified0.723050.804680.702881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88964402861221054369GA433929Benignnot_specified0.712360.818210.678711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88978107351221074122CT798984BenignGilbert's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88982259951221283322GA227775drug_responsepravastatin_response_-_Efficacy..0.054710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
88992599831221329738AG254471Conflicting_interpretations_of_pathogenicityGilbert's_syndrome|Rotor_syndrome|not_specifie...0.526290.479490.62241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8900373461221331549TC40587drug_responsesimvastatin_acid_response_-_Metabolism/PK|Gilb...0.114950.129430.087660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89012599851221331625CT254473BenignRotor_syndrome|not_specified0.448950.385140.415541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89023756561221382619TC362505drug_responsemethotrexate_response_-_Toxicity/ADR..0.219251|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89033079591221391976AC331512Likely_benignRotor_syndrome0.058450.046320.044330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89043079671221392562TG324112BenignRotor_syndrome..0.447680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89053079691221392586AG331528BenignRotor_syndrome..0.448480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89066796951221624309AT665596Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89076796931221626324AC666651Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89086796911221626330CA665601Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89096796921221627557AC665603Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89106796891221627745AG666405Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89116796851221628812GA666661Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89126796831221629987TC666243Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89136796801221644667GA666685Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89146796781221654407GA656146Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89153079851221689736GA316625BenignHypoglycemia_with_deficiency_of_glycogen_synth.....0.531550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89162614691221692166CAC254475Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89172614661221711111GC254478Benignnot_specified|not_provided0.717520.766120.715661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89182614641221712545AG254480Benignnot_specified0.740990.765710.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89191991621221712574CT196321BenignHypoglycemia_with_deficiency_of_glycogen_synth...0.74269.0.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89202614631221713308TA254481BenignHypoglycemia_with_deficiency_of_glycogen_synth...0.765190.789580.754591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89212614621221713402TC254482BenignHypoglycemia_with_deficiency_of_glycogen_synth...0.742730.768560.740621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89222614731221715989CT254484Benignnot_specified|not_provided0.182380.208740.176520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89233080191221791272TC316663BenignLactate_dehydrogenase_B_deficiency0.935410.980530.932511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89246724411221958399GC666416Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89256738271221970019CT666270Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89266811941221982281AG666716Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89276811931221994955GC665637Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89286811921221997121GC666314Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89292612161222005003TG254488Benignnot_specified|not_provided0.359660.388290.334670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89306811901222005771AG666744Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89316779191222014222TC666745Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89326730061222015768GA666437Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89333080371222016004GAG330167Benign/Likely_benignHypertrichotic_osteochondrodysplasia|Familial_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89346811891222016216AAGTTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACTA,AAATTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT666443Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
89356738261222017157GC665667Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8936454021222017422AG54569Benign/Likely_benignHypertrichotic_osteochondrodysplasia|Familial_...0.998080.999520.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89376710571222035873CT665675Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89386738251222041044GGACAGAGGGGTTG666336Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89392612141222047151GT254490Benignnot_specified0.998080.999530.99781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89406811881222061432TC666749Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8941453861222063115AG54553Benign/Likely_benignCardiomyopathy|Hypertrichotic_osteochondrodysp...0.996460.998970.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89422612131222063737GT254491Benignnot_specified0.989690.996920.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8943453841222063749TC54551Benign/Likely_benignHypertrichotic_osteochondrodysplasia|Familial_...0.989770.996930.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89446811871222064188TC665679Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89456724361222066180CT665684Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8946454191222068849GT54586Benign/Likely_benignHypertrichotic_osteochondrodysplasia|Familial_...0.587940.61380.644771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89476811851222069114GT665689Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89486811841222078556TC666469Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89496811831222078571TA666472Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89502612171222078838TG254492Benignnot_specified0.638940.641510.701681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89516811821222079318GA666484Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89523080591225358650AT331607Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89533080621225358662CTTC316688Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89543080641225358828TG324167Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89553080651225358943TC330205Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89563080661225358969TG316694Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.433311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89573080751225359328AT316697Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89583080761225359352GA324182Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.548521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89593080771225359464TAT331627Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89603080821225359841TC316700Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.525561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89613080891225360449CCA316706Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89623081021225361091TC330231Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89633081181225362217AG324217Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome.0.635910.549121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8964404671225362552AC48937Benign/Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrom.....0.520571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89655618151225368084TC552690Benignnot_provided..0.547521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
8966465381225368462CT55703BenignNoonan_syndrome_3|Rasopathy|not_specified0.998540.999540.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89674024251232481093GC390019Benignnot_specified0.188610.234080.264580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89688028321232552769CG791228BenignCharcot-Marie-Tooth_disease,_type_4H...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89693082871232735236CT331861BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.49892.0.467050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89706704781232754946TG666803Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89716704791232755058TA666454Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89726705091232755400TC666808Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89736801651232763474TG666566Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89743082971232772620CT316842Likely_benignCharcot-Marie-Tooth_disease_type_40.098110.09530.06510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89756687371232778296CT666815Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89763082991232778581TC330499Benign/Likely_benignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.132630.131770.140180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89776801681232778913GA666819Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89783083131232794615CT331882Likely_benignCharcot-Marie-Tooth_disease_type_4..0.066890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89793083221232795190CT330532Likely_benignCharcot-Marie-Tooth_disease_type_4..0.067090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89803083241232795295AT330549Likely_benignCharcot-Marie-Tooth_disease_type_4..0.067090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89813083271232795421AG331894BenignCharcot-Marie-Tooth_disease_type_4..0.741810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89823083361232796393ACTATA330561BenignCharcot-Marie-Tooth_disease_type_4...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89833083411232796597GA330563Likely_benignCharcot-Marie-Tooth_disease_type_4..0.067890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89843083511232797237GT331938BenignCharcot-Marie-Tooth_disease_type_4..0.433710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89853083551232797386TAT316862Likely_benignCharcot-Marie-Tooth_disease_type_4..0.066890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89863083611232797905AG330594BenignCharcot-Marie-Tooth_disease_type_4..0.496610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89873083661232798227CCT324449Uncertain_significanceCharcot-Marie-Tooth_disease_type_4...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89883083721232798458AG330604BenignCharcot-Marie-Tooth_disease_type_4..0.990221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89893083771232798665GA324459BenignCharcot-Marie-Tooth_disease_type_4..0.467650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89906784761232854151AG666458Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89916715511232854602GA666462Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89926786851232863700AG666837Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89936717801232865915CT665793Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89946761171232890685CT665808Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89956716451232890912TA666607Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89966805511232893715GT666478Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89976805761232895955GA665817Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89983084201232897647CCA332046Uncertain_significanceLethal_Encephalopathy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
89996808491232900620TC665824Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90003084681232943795CA330718Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy..0.035740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90013084711232944087CG332116Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy..0.035740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90023084811232944414GT316934Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy..0.899161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9003450701232949029AAG54237Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.190290.21080.318290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90046724031232949427TC666873Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90056724021232955154GC666881Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90066724011232955642GA665867Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90076722091232955647CA666513Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90086724001232955675CG665870Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90092594411232974245CT254502Benignnot_specified0.766490.712680.591650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90106743011232993822AG666893Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90116696221233049157CT666640Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90123690151233049781GA353244Likely_benignArrhythmogenic_right_ventricular_cardiomyopathy..0.332470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90136839831233049929CT666899Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90143085371239687754TC324579BenignCongenital_fibrosis_of_the_extraocular_muscles..0.381990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90153085421239687989TC330788BenignCongenital_fibrosis_of_the_extraocular_muscles..0.382190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9016391921240631791TC47798BenignParkinson_disease_8,_autosomal_dominant0.529060.526260.452881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90173086131240645257CA324683BenignParkinson_disease_8,_autosomal_dominant0.318180.362210.319490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90183086171240681142CCT330850BenignParkinson_disease_8,_autosomal_dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9019391971240713834CA47803BenignParkinson_disease_8,_autosomal_dominant0.68590.678090.682911/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9020392011240713901TA47807Likely_benignParkinson_disease_8,_autosomal_dominant0.257740.298270.285940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9021392091240716260TC47815BenignParkinson_disease_8,_autosomal_dominant0.553440.573310.585260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9022392221240742254GA47828Likely_benignParkinson_disease_8,_autosomal_dominant0.256080.300130.273760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90233086471240758652TC324716BenignParkinson_disease_8,_autosomal_dominant|not_pr...0.612270.623980.551720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90243086561240761931AC317030BenignParkinson_disease_8,_autosomal_dominant..0.551320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90253086571240761951CT332384BenignParkinson_disease_8,_autosomal_dominant..0.551520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90263086621240762303GC317036BenignParkinson_disease_8,_autosomal_dominant..0.551320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90273086681240762546TC330896BenignParkinson_disease_8,_autosomal_dominant..0.551320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90286799191241312365AT665885Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90296799211241318169GT666660Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90306799221241318620TC665889Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90316791531241323480CT665893Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90326791561241330531TC665894Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90336791521241331612TC665902Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90341287911241337435CT134240Benignnot_specified0.621580.619250.571490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90356791621241386743AT665913Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90366791641241387110CG666564Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90376816511241414357AC666908Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90386816521241463680CT666911Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90396799261241463689TC666923Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90403086831242852328CA332405BenignProgressive_myoclonus_epilepsy_with_ataxia..0.969651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90413086921242853058GTG324780Uncertain_significanceProgressive_myoclonus_epilepsy_with_ataxia...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90423086941242853084CA324781BenignProgressive_myoclonus_epilepsy_with_ataxia.0.246710.300120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90433087001242853520AG324798BenignProgressive_myoclonus_epilepsy_with_ataxia..0.721051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9044965061242854205AG102400BenignSeizures|Progressive_myoclonus_epilepsy_with_a...0.435260.438460.429310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90451300241242854208AG135470BenignSeizures|Progressive_myoclonus_epilepsy_with_a...0.299860.345910.270570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90466680461242858029CG665929Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90476680451242862305GC666587Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90486749351242862750TG666933Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90496686021242863636AAC666944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90506686001242863801GA665932Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90516685991242866065AG665952Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90523087411244181141AG332517Likely_benignIRAK4_deficiency..0.024160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90533088281248236386TA317210Likely_benignVitamin_D-Dependent_Rickets..0.543331/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90543088401248236550GC332585BenignVitamin_D-Dependent_Rickets..0.978241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90553088411248236623GT331058Likely_benignVitamin_D-Dependent_Rickets..0.50260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90563088421248236664CT332589Uncertain_significanceVitamin_D-Dependent_Rickets..0.005391/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90573088621248238068CA331077Likely_benignVitamin_D-Dependent_Rickets..0.128790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90583088681248238221GT332607Likely_benignVitamin_D-Dependent_Rickets..0.494210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90593088871248272895AG331088drug_responsepeginterferon_alfa-2b_and_ribavirin_response_-...0.673150.637560.671531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90603088891248293605CG317255Likely_benignVitamin_D-Dependent_Rickets..0.165140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90613088911248293716GT331092Likely_benignVitamin_D-Dependent_Rickets..0.166130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90626750271248368989AC666974Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90638028421248373718AAC791239BenignStickler_syndrome_type_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90646748571248374513AG666656Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90656748561248374826TG667018Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90666748431248375475CG666658Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9067937871248375568AG99689Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.452790.489630.482831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90686748421248375965CT666662Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90692582261248375975AG254539Benignnot_specified|not_provided0.421420.390020.473241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90702582251248376291GA254540Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.386820.395830.429711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90716748401248376503CT667026Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90726748391248376530CA666663Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90732582191248377970AG254547Benignnot_specified|not_provided0.765960.752220.683111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90746748371248379810GA666666Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90756748361248379856TC667048Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90765855061248379961AC577262Benignnot_provided..0.484030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90775855051248379964AG577263Benignnot_provided..0.483830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90785855071248380031AG577264Benignnot_provided..0.486020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90792582101248380682GA254555Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.207670.1960.203670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90806833441248381756GC667055Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90816778681248383797GT666003Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90826778671248383814GA666779Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90836749821248386553AG666782Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90846749811248386577GT666668Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90856778551248387025TA666007Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90866778541248387052AC666015Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90876778531248388830CT666671Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90886778521248388856AC666677Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90896750251248388995TCT666679Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90902582441248389023CT254562Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.267650.293450.160740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90912582431248389643AC254563Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.820850.748930.682711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90926833391248390080TC666683Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90932582411248390435AT254565Benignnot_specified0.023760.024820.010980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90946687111248391055GA667058Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90956689531248391094CT666018Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90966689471248391127CT666687Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90971984711248391416GT195632Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.20145.0.219250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90986778451248392433AG666689Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
90996710121248393444CT666020Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91006778511248393526GA667068Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9101937911248398002GC99693Benignnot_specified0.784250.771240.68591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9102937881248398080TA99690Benign/Likely_benignType_II_Collagenopathies|not_specified|Stickle...0.789150.772560.68531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91033089411248398223GA317278Benign/Likely_benignType_II_Collagenopathies|Stickler_Syndrome,_Do.....0.727641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91046748341248398350CA667074Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91056834901248524804AG666021Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91062557631248527186CT254572BenignGlycogen_storage_disease,_type_VII|not_specifi...0.197220.148540.18790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91076696511248527715CT666036Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91086761711248528419TC666037Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91096834931248531917TA666041Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91106678471248534288TG667100Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91112557541248537624AG254583Benignnot_specified|not_provided0.810470.735220.645371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91122557581248539482TG254587BenignGlycogen_storage_disease,_type_VII|not_specifi...0.29248.0.204270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91134025011249308284AG390097Benignnot_specified0.307470.369880.30991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9114886851249312533GTAG94265Likely_pathogenicPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91154025021249312593AG390144Benignnot_specified0.30632.0.307711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91164025031249314862CA390099Benignnot_specified0.305320.369710.308311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91174025041249314994AG390145Benignnot_specified0.306170.369230.308111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91185049171250348078TC497419Benignnot_specified0.69330.759270.667131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91193092411250349765CT317502BenignNephrogenic_diabetes_insipidus..0.352640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91203092551250350953TC317523BenignNephrogenic_diabetes_insipidus..0.888781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91213092571250351075TC333084BenignNephrogenic_diabetes_insipidus..0.481230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91223092591250351148AG333088BenignNephrogenic_diabetes_insipidus..0.227640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91233092631250351679TTCTCT331609BenignNephrogenic_diabetes_insipidus...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91243092641250351886AG331612BenignNephrogenic_diabetes_insipidus..0.885181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91253092741250352559TC317541BenignNephrogenic_diabetes_insipidus..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91263092811251380232AG331638BenignAnemia,_hypochromic_microcytic,_with_iron_over....0.425360.43811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91273092901251381077CT317582BenignAnemia,_hypochromic_microcytic,_with_iron_over....0.918580.896771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91283093071251382232TC331680BenignAnemia,_hypochromic_microcytic,_with_iron_over...0.895360.934210.895971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91293093231251404467CT325455BenignAnemia,_hypochromic_microcytic,_with_iron_over...0.470860.452510.31191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91303093281251420164CA333177BenignAnemia,_hypochromic_microcytic,_with_iron_over....0.918060.896771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91311302531252080965CT135700BenignHistory_of_neurodevelopmental_disorder|not_spe...0.800150.836690.784941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91326706861252099153CT667114Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91336693621252163248AG666047Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91342603521252163789GA254609Benignnot_specified0.75490.791470.707471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91356842701252164027GA666831Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91366705261252174301GT666833Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91376705401252180118GA666750Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91386708441252182452CT666055Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91391390731252182545AG142776Benignnot_specified|Early_Infantile_Epileptic_Enceph...0.066520.140.160140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91406842721252183485CT666841Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91411302471252184271TC135694BenignHistory_of_neurodevelopmental_disorder|not_spe...0.62560.650010.503790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91426708451252184342AG667128Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91436688511252184540TC666057Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91446688531252184585GA666059Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91451302511252200742CA135698BenignHistory_of_neurodevelopmental_disorder|not_spe...0.60655.0.489020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91463093811252202024TC331755BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.163140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91473094071252204246TC331784BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto....0.753650.838461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91488109061252306027CG799691BenignHereditary_hemorrhagic_telangiectasia_type_2...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91491362931252307145CT139996BenignHereditary_hemorrhagic_telangiectasia_type_2|H...0.472860.426330.431110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91502547101252307308AG254610BenignHereditary_hemorrhagic_telangiectasia_type_2|n...0.478180.457750.43670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91514393761252307963TCAGAATTGGAATTCTGCTGGGT433105BenignHereditary_hemorrhagic_telangiectasia_type_2|n......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91522547091252312944TC254616Benign/Likely_benignHereditary_hemorrhagic_telangiectasia_type_2|n...0.324930.284290.343450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91534393731252312964AG433114BenignHereditary_hemorrhagic_telangiectasia_type_2|n....0.307610.343250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91548109071252314138AG799705BenignHereditary_hemorrhagic_telangiectasia_type_2...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91556784391252314295TG666850BenignHereditary_hemorrhagic_telangiectasia_type_2|n......1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91568116051252314327CT799708BenignHereditary_hemorrhagic_telangiectasia_type_2...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91578108561252314388TG799709BenignHereditary_hemorrhagic_telangiectasia_type_2...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91583094541252315237TC333309BenignHereditary_hemorrhagic_telangiectasia_type_1..0.342450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91593094671252315923TC333318BenignHereditary_hemorrhagic_telangiectasia_type_1..0.699681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91603094771252316603TC333333Likely_benignHereditary_hemorrhagic_telangiectasia_type_1..0.176720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91613094831252317057CG317733Likely_benignHereditary_hemorrhagic_telangiectasia_type_1..0.130990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91623094841252317075GA331852Likely_benignHereditary_hemorrhagic_telangiectasia_type_1..0.142570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9163665451252682141GA77442not_providednot_provided0.22605.0.18730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91643094891252708241GA331858BenignBeaded_hair..0.710860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91653094941252708420GA333362BenignBeaded_hair0.749070.699840.736220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91663094991252708565AG325618BenignBeaded_hair0.72671.0.711460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91673095211252711450TC333400BenignBeaded_hair0.731050.666260.717850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9168665461252712975GA77443BenignBeaded_hair|not_provided0.319310.323130.362620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
916918911252827608CT16930risk_factorPseudofolliculitis_barbae,_susceptibility_to|n....0.123080.143170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91707685471252863621TG702366Likely_benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91713095501252908473GA331909BenignEpidermolysis_bullosa_simplex..0.129190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9172662241252908872CT77121BenignEpidermolysis_bullosa_simplex|not_specified|no...0.151230.13440.128790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9173662231252908917TC77120BenignEpidermolysis_bullosa_simplex|not_specified|no...0.173070.13940.151760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9174661981252911401TG77095BenignEpidermolysis_bullosa_simplex|not_specified|no...0.151620.130.128590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9175662831252912768CT77180BenignEpidermolysis_bullosa_simplex|not_specified|no...0.15193.0.12760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9176662821252912870AG77179BenignEpidermolysis_bullosa_simplex|not_specified|no...0.151740.130290.1280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91772560441252912959GA254617BenignEpidermolysis_bullosa_simplex|not_specified0.16339.0.138180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91782560431252913730GA254618BenignEpidermolysis_bullosa_simplex|not_specified0.078350.072180.068490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91793095811252914211TC333460BenignEpidermolysis_bullosa_simplex..0.105230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91803096161253044267CT331979BenignIchthyosis_bullosa_of_Siemens0.11164.0.072080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91813096261253045777GA317855BenignIchthyosis_bullosa_of_Siemens0.35845.0.278160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91823096371253069014TC333512BenignNonepidermolytic_palmoplantar_keratoderma|Bull...0.223360.305070.275560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9183666231253070145GA77520BenignNonepidermolytic_palmoplantar_keratoderma|Bull...0.470090.443440.425521|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9184666671253071382AC77564not_providednot_provided0.38641.0.288540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9185666661253071560AG77563not_providednot_provided0.470090.444030.425520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9186665161253200584TC77413BenignWhite_sponge_nevus_of_cannon|not_provided..0.837061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91873096711253201413TC325795BenignWhite_sponge_nevus_of_cannon0.82162.0.837861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91883096871253204614CT333549BenignWhite_sponge_nevus_of_cannon0.835680.831730.823481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91897685511253207583CCCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG702383Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9190665351253294381TC77432not_providednot_provided0.485850.553010.567490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91911282521253703021GA133701BenignGlucocorticoid_deficiency_with_achalasia|not_s...0.906270.974540.915341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91923097471253720494GA325888Uncertain_significanceOsteogenesis_Imperfecta,_Recessive..0.003390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91933097511253720718CCTTGAT325889BenignOsteogenesis_Imperfecta,_Recessive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91942857791253722098AG270016BenignOsteogenesis_imperfecta_type_12|not_specified|...0.952290.986640.961261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91952857781253722128GA270015BenignOsteogenesis_imperfecta_type_12|not_specified|...0.899410.958210.895571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91966676261253723368GA666759Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
91971292971256078872GA134743Conflicting_interpretations_of_pathogenicitynot_specified|Congenital_Muscular_Dystrophy,_I...0.004850.004660.00240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9198940471256092668CT99949Conflicting_interpretations_of_pathogenicityMuscular_dystrophy,_congenital,_due_to_integri...0.03852.0.015580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9199940461256092682CT99948Benign/Likely_benignnot_specified|Congenital_Muscular_Dystrophy,_I...0.05943.0.034941|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92002588571256115585CT254633Benign/Likely_benignPigmentary_retinal_dystrophy|not_specified0.157390.195220.152760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92011303831256398454GC135830BenignSulfite_oxidase_deficiency|not_specified0.73581.0.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92023098571256435929CG318056BenignDiamond-Blackfan_anemia|not_specified0.46494.0.555911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92033098631256843825CCA325984BenignCataract...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92043098661256843893GT325987BenignCataract..0.322090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92053098711256844349CT318063BenignCataract..0.269170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92063098751256844559AG325992BenignCataract..0.853040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92073098831256844970AC333746BenignCataract..0.972241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92082601691256848079CT254635Benign/Likely_benignCataract|Cataract_15,_multiple_types|not_speci...0.018990.02530.021960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92097685551257080664CATC702431Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92102264081257441501CA228212Likely_benignDeafness,_autosomal_dominant_48|Nonsyndromic_H...0.001540.002870.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92117743281257573272CT702442Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
921211891257870155AC16228Uncertain_significanceCoronary_artery_spasm_3,_susceptibility_to0.48939.0.370211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92136828531257968738GA666097Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92146828561257975570AG666891Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92156828581257976168GA666798Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92163099751258142004TAT332311Uncertain_significanceCutaneous_Malignant_Melanoma,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92176786341258186595AG666914Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92181982061264202890CG195367Benignnot_specified.0.13708.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92194035221264875787TA390062BenignGlaucoma_1,_open_angle,_p|not_specified|not_pr...0.439720.481420.353241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92203101751265108160GC332553BenignSanfilippo_syndrome..0.606431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92213101841265109168CT334206BenignSanfilippo_syndrome..0.593851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92223101981265110141GA332602BenignSanfilippo_syndrome..0.715661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9223940291265146532CT99931BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.69322..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92243102191265563712CT326356Benign/Likely_benignDermatofibrosis_lenticularis_disseminata|not_s....0.203490.083270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92253102221265563754CT332656Likely_benignDermatofibrosis_lenticularis_disseminata0.001740.074260.048120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92263102551265641261GA332686Likely_benignDermatofibrosis_lenticularis_disseminata..0.047920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92273102771266741537ATA326419BenignFraser_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92283102901266742183AG332712BenignFraser_syndrome_1..0.503791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92292614111266786073AG254710BenignFraser_syndrome_1|not_specified0.97822.0.974641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92302614101266786091GC254711BenignFraser_syndrome_1|not_specified0.889580.949380.843651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92312614091266814487CA254712BenignFraser_syndrome_1|not_specified0.521420.561560.422320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92322614131266909389CT254713BenignFraser_syndrome_1|not_specified0.68520.652310.717051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92336952971269202326CT685383Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92343103351269747177CT332755BenignFamilial_visceral_amyloidosis,_Ostertag_type..0.919931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92353103541269747834CT318410BenignFamilial_visceral_amyloidosis,_Ostertag_type..0.468651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92363103861272372862AG326588Likely_benignTryptophan_5-monooxygenase_deficiency0.581890.564660.541731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92373103881272416235AT332804Likely_benignTryptophan_5-monooxygenase_deficiency0.56620.573190.487221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9238357521276741341CT44416Benign/Likely_benignBardet-Biedl_syndrome_1|not_specified|not_prov...0.007920.008370.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92396693841280613584TC667213Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92402269341280672064AG230375Benignnot_specified.0.698540.683310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92415018901280707236TA493314Benignnot_specified0.193370.217470.183310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92422269441280712420GA230391Benignnot_specified0.972870.96180.948481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92432269491280730561CTC230398Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92442269521280735771TC230404Benignnot_specified0.529520.615080.494811|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92452269561280747209CG230408Benignnot_specified0.189540.223310.173320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92462269571280747242AG230409Benignnot_specified0.845380.853120.834071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92472269621280750659GA230414Benignnot_specified0.193220.182890.171530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92482269661280752660AG230419Benignnot_specified0.935840.940010.964461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92492269681280761411GT230422Benignnot_specified0.18908.0.169930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92502269691280761430GA230423Benignnot_specified0.717990.786830.678121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92512269701280761465GA230424Benignnot_specified0.941240.945390.968651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92522269721280765800AG230426Benignnot_specified0.496540.589320.484030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92532269761280771813GA230431Benignnot_specified0.722740.787420.683111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92546716331280862469AT666135Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92556825691280889829TA656185BenignDeafness,_autosomal_recessive_84|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92566825701280890325TTG666138Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92578052621280998917TC793449Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92583105111281102921TC334598BenignCentronuclear_Myopathy,_Dominant..0.458470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92593105161281103144AG326716BenignCentronuclear_Myopathy,_Dominant..0.458470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92606813491288448328TA667239Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92616786161288449096AG666884Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92621668281288454594TTA177569BenignJoubert_syndrome|Leber_congenital_amaurosis|Me......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92631262611288473049CT131793Benignnot_specified0.771260.884130.764581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92646680691288478082CT666942Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92652618451288478316TAT254744Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92666680671288480623GA666887Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9267961701288483272TAT102064BenignJoubert_syndrome|Leber_congenital_amaurosis|Me......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92686688861288494718CT667251Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92696680661288495290GC666174Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92701262531288496838CG131785Benignnot_specified0.77267.0.764581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92711262491288505078TC131781Benignnot_specified|not_provided0.77127.0.764581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92726786151288519401AG666952Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92736803771288522452TC667264Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92741668391288522823AAC177574BenignJoubert_syndrome|Leber_congenital_amaurosis|Me...0.870540.928390.87361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9275128111289328335TC27850AffectsSkin/hair/eye_pigmentation,_variation_in,_7..0.031750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92768028821289745477CA791287BenignHypogonadotropic_hypogonadism_19_with_or_witho......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92776772241289853408GA666195Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92787685701291372042GAG778133Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92796826901295387756CT667009Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92803106771296366698GA327068Likely_benignHistidinemia..0.352441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92813106791296366769TG327069BenignHistidinemia..0.453471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92823106951296367601TTAAAA333174Uncertain_significanceHistidinemia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92833107011296367900GT333182Likely_benignHistidinemia..0.177120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92843107091296374563TC334906BenignHistidinemia0.816160.839380.887181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92853107101296374614CT318725BenignHistidinemia0.842840.846830.911141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92863107191296387621AG333194BenignHistidinemia0.641310.564790.579670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92876840701298921343CT666200Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92886729591298921533GT667012Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92896729601298921574GT667016Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92906729611298925255TC667022Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92916712101298925650GT667284Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92923107851298928646AG334955Likely_benignDilated_Cardiomyopathy,_Dominant..0.133590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92936780431298994154GA667033Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929430663712100813976AC322498BenignNonsyndromic_Hearing_Loss,_Dominant0.45970.48750.3770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929536897712100815850TA353206Likely_benignNonsyndromic_Hearing_Loss,_Dominant..0.317290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929612964412102064118TC135090BenignDistal_arthrogryposis|not_specified0.949950.954210.964461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929730677312102139747TG330054Likely_benignI_cell_disease|Mucolipidosis,_Type_III_Alpha/Beta..0.078271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
929867199812102150878GC666005Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
92999612112102154900AG102015BenignI_cell_disease|not_specified|Mucolipidosis,_Ty...0.596720.601460.69051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93009611912102158763TC102013BenignI_cell_disease|not_specified|Mucolipidosis,_Ty...0.562510.588510.651361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930167199612102162104CT666428Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930267199512102165083AG666183Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930367199412102173654TC666192Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930467199312102180228CT666430Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930567199212102182181GA666199Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930668406112102184071CT666013Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930730684012102790780AT328922BenignInsulin-like_growth_factor_I_deficiency..0.619011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930830688012102793569CT330185BenignInsulin-like_growth_factor_I_deficiency..0.426921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
930930688612102793909CCT322907Uncertain_significanceInsulin-like_growth_factor_I_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931030689212102794515GA315820BenignInsulin-like_growth_factor_I_deficiency..0.638580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931130691112103232766CT330196BenignPhenylketonuria..0.292530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931210259212103233031GA108328Benignnot_specified|not_provided0.018450.016250.010580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931316741312103237468GC177903Benignnot_specified0.82716.0.840261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93149275512103240630CA98662BenignPhenylketonuria|not_specified|not_provided0.36660.351730.269570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931516741412103248924CT177904Benignnot_specified0.65355.0.546531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931610271212103249164CT108448not_providednot_provided..0.234630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931710267312103271193GA108409Benignnot_specified|not_provided0.382820.372520.294330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93189273612103306550AG98643BenignPhenylketonuria|not_specified|not_provided0.206910.194270.216850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
931958520712103310787GA576256Conflicting_interpretations_of_pathogenicityPhenylketonuria0.37714.0.363620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932016275812103352649CG175385Benignnot_specified0.103930.052520.071290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932130692312106751563CT315852Uncertain_significancePol_III-related_leukodystrophy..0.006790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932213000112106838340TC135447BenignPol_III-related_leukodystrophy|not_specified0.19099.0.317890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932313000312106903321TC135449BenignPol_III-related_leukodystrophy|not_specified0.211520.324140.324880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932430695512106903674AG330244BenignPol_III-related_leukodystrophy..0.324880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932555922012108956417TTGG549981Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932655922212108956433CT549983Benignnot_provided0.62541.0.507590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932721455412108956526AAG211576Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932868411612108958439TC666438Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
932968197812108962398CG666439Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933026141712110221631GC254400Benignnot_specified|not_provided0.47609.0.56190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933166756712110224922AC666224Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933266756612110225923CG665364Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933366756512110226796AG666228Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933426142012110240838TG254405BenignSpondylometaphyseal_dysplasia|Metatrophic_dysp...0.58081.0.754390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933567024812110270953AG666234Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933667024712110271351AG665388Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933767070612111052465TA666236Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
933867070512111083084GT665393Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93393177412111350999GA40434not_providednot_provided..0.149960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93403177212111351029TCT40432BenignFamilial_hypertrophic_cardiomyopathy_10|not_sp......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934152236512111894072CT512973Likely_benignSpinocerebellar_ataxia_20.199990.215740.231430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934212850812112036929GA133957Benign/Likely_benignSpinocerebellar_ataxia_2|not_specified.0.718610.444290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934312850712112037000GC133956Benign/Likely_benignSpinocerebellar_ataxia_2|not_specified.0.8750.444290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934430722012112856643GA316040Benign/Likely_benignNoonan_syndrome|Noonan_syndrome_with_multiple_.....0.143170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934556160712112890776AG552671Benignnot_provided..0.37340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93464056912112939853CT49039BenignNoonan_syndrome..0.511780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934730723012112944240CTC329407Uncertain_significanceNoonan_syndrome|Noonan_syndrome_with_multiple_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93481398512113348870GA29024Uncertain_significanceDiabetes_mellitus,_type_1,_susceptibility_to.0.562780.473841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
934930727512114792236TC316071BenignHolt-Oram_syndrome..0.808311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935030730012114793240CT323333BenignHolt-Oram_syndrome.0.683730.572281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935130731812114846061AG329565Likely_benignHolt-Oram_syndrome..0.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935230733612115108907TC323367BenignUlnar-mammary_syndrome..0.495811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935330738412115121203AG316155BenignUlnar-mammary_syndrome..0.159150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935430739912115121595TAT330802BenignUlnar-mammary_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935567611412120876065AC665408Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935666970312120876476TA665417Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935713625912121174899TC139962BenignDeficiency_of_butyryl-CoA_dehydrogenase|not_sp...0.506770.57060.590660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935813626012121176679CT139963BenignDeficiency_of_butyryl-CoA_dehydrogenase|not_sp...0.591960.545260.673120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
935930745312121177778AG316184BenignDeficiency_of_butyryl-CoA_dehydrogenase..0.274360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936012923412121416622CG134680BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.417480.472170.428511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93611493712121416650AC29976BenignSERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|Matur....0.353290.298521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936267685912121416988AG666539Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936367686412121426478CT665420Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936467353512121426594GA666082Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936567687412121431225GA666269Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936667353612121431300CT666085Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936767686012121432302TG666276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936813335512121434630CCTCATTCAT137094Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
936968060612121434833GA666096Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937012922912121435342CT134675BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.246390.336780.316691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937112923012121435427GA134676BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.247350.346510.317691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937212923112121435475GA134677BenignMaturity_onset_diabetes_mellitus_in_young|not_...0.290070.434720.359631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937367687712121435587GT666282Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937413550512121437221TC139244not_providednot_specified0.743890.814540.776961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
93753681012121437382AG45471BenignMaturity-onset_diabetes_of_the_young,_type_3|n....0.995850.985221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937667353712121438844TC666285Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937730746412121439192GT329694BenignMaturity_onset_diabetes_mellitus_in_young..0.359821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937830746812121439433GA323496BenignMaturity_onset_diabetes_mellitus_in_young..0.360021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
937980289912122295335TC791201BenignHawkinsinuria...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938036898212122296784CT353211BenignHypertyrosinemia|Hawkinsinuria0.31669.0.336060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938140360612122372183GA390112Benignnot_specified0.033790.042350.034350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938240360712122386948GA390117Benignnot_specified0.034450.042610.036140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938377041512123186880CT702187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938467153512123718301CT666286Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938530750212123741776TC323565BenignCombined_oxidative_phosphorylation_deficiency..0.651361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938630750712123742061GA316228BenignCombined_oxidative_phosphorylation_deficiency..0.557311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938730750812123742093TG316231BenignCombined_oxidative_phosphorylation_deficiency..0.650561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938867500712124156487CT666542Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
938967070712124156897AG666288Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939067500812124158080AG666100Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939167500912124158450TC666290Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939267501012124158455TC665445Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939367222812124158502GA665448Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939467225012124163512CT665449Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939567070812124171151CT665450Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939667070912124171176AG666101Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939767501112124171323TC665453Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939867501212124171658CT666292Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
939967225112124171826TC666293Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940067191112124172307CT666296Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940167191212124172342TC665455Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940212629012124172555AT131822Benignnot_specified|not_provided0.446790.356660.331670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940312629412124172731GA131826Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Meckel...0.450480.357720.336060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940412629312124172746TC131825Benignnot_specified|not_provided0.535520.426860.445490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940567191312124173005TG666302Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940667225212124177016CA666551Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940712628212124177289TC131814BenignMeckel_syndrome_type_8|not_specified0.536290.428130.445490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940867192612124177538CT666306Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
940912628312124179417TC131815BenignJoubert_syndrome|Meckel-Gruber_syndrome|Meckel...0.572270.438740.482230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941067501612124179620GA666310Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941112628412124179739AG131816Benignnot_specified|not_provided0.390220.325990.272170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941267225312124180011TC666107Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941312628512124181049CT131817Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Meckel...0.389590.325520.272360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941467501812124181820AG666313Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941567225512124184065GA666115Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941667225612124184482GC666562Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941767192712124184639TG666321Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941830756412124192415GA316270Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_.....0.216850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
941930756712124192587TTCTCA323625BenignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942030756912124192728CT331039Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_.....0.272170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942167623112124196735GC666144Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942230757312124196891CG316275Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_.....0.272170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94239551512124197099CT101414Benign/Likely_benignJoubert_syndrome|Meckel-Gruber_syndrome|Cutis_...0.38260.482510.272170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94249552312124209332TC101422BenignCutis_laxa,_recessive|not_specified0.646630.679240.7510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94259552412124209352CT101423BenignCutis_laxa,_recessive|not_specified0.639860.675630.74980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94269552512124210782TC101424BenignCutis_laxa,_recessive|not_specified0.639860.675590.74980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942768316712124219791CT665490Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
942826026012124220055TC254452Benignnot_specified0.57151.0.679910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94299552012124229429TC101419BenignCutis_laxa,_recessive|not_specified0.695370.69340.799520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943068316912124236497CT665492Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94319552112124241506CT101420Benign/Likely_benignALG9_congenital_disorder_of_glycosylation|Cuti...0.025830.028350.014780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943230761012124243707TC331090BenignCutis_laxa,_recessive..0.617610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943330761812124244272CG316294BenignCutis_laxa,_recessive..0.791530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943430764212124246004GA316304BenignCutis_laxa,_recessive..0.606630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943540261112124265687TC390121Benignnot_specified0.606340.663210.713261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943640261212124267638AG389988Benignnot_specified0.928110.913340.963061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943740261312124267703TC390038Benignnot_specified0.666770.670250.801321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943878170212124272382TC713405Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
943940261412124274474AG390123Benignnot_specified0.730590.729370.837861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944040261512124325977TG390127Benignnot_specified0.91721.0.786141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944140262112124387574GA390129Benignnot_specified0.30060.305530.335660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944240262212124387586AG389996Benignnot_specified0.322290.300880.358030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944340262412124399550TC390002Benignnot_specified0.234070.172670.208470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944440262512124417889CT390133Benignnot_specified0.307430.374110.260581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944525309112125284671GA247502PathogenicHigh_density_lipoprotein_cholesterol_level_qua...0.000850.00065.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944676859712125396488TC702205Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944776983612126137060CT702216Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944830769712132414086CT323783BenignMitochondrial_myopathy_and_sideroblastic_anemi.....0.12741|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
944968363012132427841GA665502Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945068363112132427909AG666180Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945122698512133196696CA230275Benign/Likely_benignnot_specified|not_provided0.017380.029010.009380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945267650412133212692TC665511Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945338021112133233705TC374780Benignnot_specified|not_provided0.972940.971170.983831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945443926612133237753GGA432724Benign/Likely_benignHereditary_cancer-predisposing_syndrome|not_sp......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945538020912133252796CG373073Benignnot_specified|not_provided0.68215.0.571691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945667967312133252947TC666617Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945767649112133253310AG666621Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945867648812133254083TC666220Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
945967648912133256904CT666369Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
946067648612133257999GGCTCAG666222Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
946167967012133258088CT666374Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
946238020812133263825GA373095Benignnot_specified|not_provided.0.490140.378791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94633112851320712746CAC335443BenignZonular_Pulverulent_Cataract...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94643112961320713527TA319093BenignZonular_Pulverulent_Cataract..0.954071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94653112981320713694GT327537BenignZonular_Pulverulent_Cataract..0.979231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94663113081320714863CT327539BenignZonular_Pulverulent_Cataract..0.271371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94673113121320715037AG335505Likely_benignZonular_Pulverulent_Cataract..0.009190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94683113191320715502CT335528BenignZonular_Pulverulent_Cataract..0.978041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94693113221320715611TC335530Likely_benignZonular_Pulverulent_Cataract..0.009190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94703113271320715877CT319109BenignZonular_Pulverulent_Cataract..0.241011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94713113291320715930TCAT335534BenignZonular_Pulverulent_Cataract...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94722614591320716533GT254822Benignnot_specified|Zonular_Pulverulent_Cataract|not...0.968390.986760.964861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94733113531320761763AG335544BenignMutilating_keratoderma|Hystrix-like_ichthyosis.....0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94743113561320761888CT327575BenignMutilating_keratoderma|Hystrix-like_ichthyosis.....0.893371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94753113571320761973CA333862BenignMutilating_keratoderma|Hystrix-like_ichthyosis.....0.870211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9476362771320762956AG44941BenignMutilating_keratoderma|Hystrix-like_ichthyosis.....0.68670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9477447391320763380TC53906BenignDeafness,_autosomal_recessive_1A|not_specified...0.000620.014590.030951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9478362791320763642CT44943BenignDeafness,_autosomal_recessive_1A|Deafness,_aut...0.002540.045380.071891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94793113761320796497CA333878Likely_benignHidrotic_ectodermal_dysplasia_syndrome|Nonsynd.....0.254790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94804029651321189941GA390036Benignnot_specified0.181410.132080.129990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94814029661321205140AT390156Benignnot_specified0.658240.76020.764780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94824029671321205192GA390163Benignnot_specified0.658240.760040.764780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94833114161322245927CCTT333898BenignSymphalangism-brachydactyly_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94843114211322255167CT327654BenignSymphalangism-brachydactyly_syndrome0.247040.321450.253390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94853114241322275394AG333908BenignSymphalangism-brachydactyly_syndrome0.77403.0.832470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94863114261322275583GA319176BenignSymphalangism-brachydactyly_syndrome0.980470.994820.981831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94873114781323755127GA335624Likely_benignSevere_autosomal_recessive_muscular_dystrophy_.....0.12520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94886843541323808468AT667089Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94896782101323808623CCTATT666995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9490926541323824783TG98561BenignSevere_autosomal_recessive_muscular_dystrophy_...0.471170.434260.524761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94916705531323869771GC666264Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94926843571323869907TC667097Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94936700651323898454CT667021Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9494926571323898509TC98564Benign/Likely_benignSevere_autosomal_recessive_muscular_dystrophy_...0.57620.674420.629790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94951676811323898664AG178066BenignSevere_autosomal_recessive_muscular_dystrophy_...0.82108.0.87780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94962884281323898934GA272665Benign/Likely_benignSevere_autosomal_recessive_muscular_dystrophy_.....0.350240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94971302011323905711AG135648Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.204550.277970.258390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94981302001323907677CT135647BenignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.984390.995670.985421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
94991301991323907909AG135646Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.204550.277790.258990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95001302051323909162AG135652Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.20475.0.259190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95011302031323911820AG135650Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.203510.280910.259980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95022408951323928671CT241631BenignSpastic_paraplegia|Spastic_ataxia_Charlevoix-S...0.025760.023320.008190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95032603891323985391TC254843Benign/Likely_benignSpastic_ataxia_Charlevoix-Saguenay_type|not_sp...0.27651.0.31110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95047698441325016092CT702636Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95057686041325021144GTCTG778271Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95063115881325456631GGT335746BenignSeckel_syndrome|Primary_Microcephaly,_Recessive..0.323880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95073115971325456911GA327860BenignSeckel_syndrome|Primary_Microcephaly,_Recessive..0.154350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95083115981325456917TC335797BenignSeckel_syndrome|Primary_Microcephaly,_Recessive..0.134980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95096783271325457595GT667110Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95101582131325458232AGTTA169016BenignSeckel_syndrome|not_specified|Primary_Microcep......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95111582121325458650GA169017Benignnot_specified|not_provided0.78210.806620.74821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95126680641325458853TG667360Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95136801831325459270CT667366Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95141582081325466774TC169021BenignSeckel_syndrome|not_specified|Primary_Microcep...0.767880.803580.737221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95151582071325466955TC169022BenignSeckel_syndrome|not_specified|Primary_Microcep...0.451870.539450.484031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95166680631325481614TC666271Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95176783251325482508GA666275Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95186801801325484392CT666278Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95196739281325486287CT667023Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95206783241325486515CT667027Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9521216661325487103TC34518BenignSeckel_syndrome|Primary_autosomal_recessive_mi...0.12179.0.155150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95221284881326043182AC133937Likely_benignnot_specified0.24120.191310.204070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95231284891326148966CT133938Likely_benignnot_specified0.708320.628660.536341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95241284901326273385GC133939Likely_benignnot_specified0.989820.997260.987421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95253116411328195972CT319355Likely_benignTreacher_Collins_Syndrome,_Dominant..0.080870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95263116461328196100GA334181Likely_benignTreacher_Collins_Syndrome,_Dominant0.00325.0.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95276697331328493997GA666284Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95286838331328494949CG667116Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95296735521328498323GC667377Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95301344471328624294GA138186not_providednot_specified0.522910.598780.558710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95311621731331819325TC171886not_providednot_provided..0.200881|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9532966261331821256CG102519Benignnot_specified0.404660.36170.24760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9533966281331821992TC102521Benignnot_specified|not_provided0.963990.982760.975441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9534966241331891746GA102517Benignnot_specified|not_provided0.655390.742460.666731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95352095981332889363GA205808BenignBreast-ovarian_cancer,_familial_2..0.159550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95362099301332889968GA205811BenignBreast-ovarian_cancer,_familial_2..0.741210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95372096061332891451CAAGTC205817BenignBreast-ovarian_cancer,_familial_2..0.258391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95382099311332892217CT205823BenignBreast-ovarian_cancer,_familial_2..0.974241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95392096231332894484GA205837BenignBreast-ovarian_cancer,_familial_2..0.049120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95402099341332895377GC205843BenignBreast-ovarian_cancer,_familial_2..0.974241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95412099351332899878CT205863BenignBreast-ovarian_cancer,_familial_2..0.973841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95422648631332901905AAT259427BenignBreast-ovarian_cancer,_familial_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95432099361332905265GA205884BenignBreast-ovarian_cancer,_familial_2..0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
954493291332906729AC24368BenignBreast_carcinoma|Hereditary_breast_and_ovarian....0.277930.24941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95452099371332908106AG205894BenignBreast-ovarian_cancer,_familial_2..0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95461327791332913055AG136527BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.97577.0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95471327801332915005GC136528BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.97547.0.973641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95482649261332918303GAG259450BenignBreast-ovarian_cancer,_familial_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95492099381332920016GA205931BenignBreast-ovarian_cancer,_familial_2|not_specified..0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95502097141332920618GA205936BenignBreast-ovarian_cancer,_familial_2..0.423321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95512099391332920844TC205938BenignBreast-ovarian_cancer,_familial_2|not_specified..0.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95522097381332924884CT205961BenignBreast-ovarian_cancer,_familial_2..0.24821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95532097471332927017GA205970BenignBreast-ovarian_cancer,_familial_2..0.037140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95542099401332928317TC205977BenignBreast-ovarian_cancer,_familial_2..0.975841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95551337381332929387TC137477BenignDuctal_breast_carcinoma|Breast-ovarian_cancer,...0.97770.993720.975841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95562649681332930936GA259469BenignBreast-ovarian_cancer,_familial_2..0.99861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95572097631332933022GT205988BenignBreast-ovarian_cancer,_familial_2..0.44091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95582099421332933937AG205991BenignBreast-ovarian_cancer,_familial_2..0.976241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95592097831332938755CCT206009BenignBreast-ovarian_cancer,_familial_2..0.210460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95602097881332939302GA206014BenignBreast-ovarian_cancer,_familial_2..0.220650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95612649061332942948TG259489BenignBreast-ovarian_cancer,_familial_2..0.224041/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95622098211332945932CT206049BenignBreast-ovarian_cancer,_familial_2..0.208870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95632099451332946011AG206051BenignBreast-ovarian_cancer,_familial_2..0.976041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95642099461332946415CT206053BenignBreast-ovarian_cancer,_familial_2..0.976041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95652099501332954741TA206082BenignBreast-ovarian_cancer,_familial_2..0.976641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95662098501332954913GA206084BenignBreast-ovarian_cancer,_familial_2..0.005590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95672098581332956757GA206093BenignBreast-ovarian_cancer,_familial_2..0.228040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95682098671332958997GA206102BenignBreast-ovarian_cancer,_familial_2..0.026360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95692098701332959534AG206106BenignBreast-ovarian_cancer,_familial_2..0.209270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95702098721332959789TC206108BenignBreast-ovarian_cancer,_familial_2..0.228631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95712649101332961189GGC259515BenignBreast-ovarian_cancer,_familial_2..0.976641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95722098781332961497CT206116BenignBreast-ovarian_cancer,_familial_2..0.011380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95732648671332962258CCT259517BenignBreast-ovarian_cancer,_familial_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95742098841332963529CG206125BenignBreast-ovarian_cancer,_familial_2..0.051120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95752098911332964504CT206133BenignBreast-ovarian_cancer,_familial_2..0.160340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95762098931332965310GA206135BenignBreast-ovarian_cancer,_familial_2..0.228240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95772099591332965651TC206136BenignBreast-ovarian_cancer,_familial_2..0.976641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95782099021332967374TCT206145BenignBreast-ovarian_cancer,_familial_2..0.159940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95792099031332967809CG206147BenignBreast-ovarian_cancer,_familial_2..0.160140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95802099111332969248AG206157BenignBreast-ovarian_cancer,_familial_2..0.160140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95812099171332970586AG206163BenignBreast-ovarian_cancer,_familial_2..0.210060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95822099641332971425TC206167BenignBreast-ovarian_cancer,_familial_2..0.976841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95831259271332973012AC131465BenignHereditary_breast_and_ovarian_cancer_syndrome|.....0.160740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95843116801333590851TC334231BenignTumoral_calcinosis,_hyperphosphatemic,_familia...0.947470.986520.944091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95853117011333635463TC319386BenignTumoral_calcinosis,_hyperphosphatemic,_familial0.768950.80360.710860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95863117051333635835TC334253BenignTumoral_calcinosis,_hyperphosphatemic,_familial0.968320.991860.976241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95873117241333639609AG334285Likely_benignTumoral_calcinosis,_hyperphosphatemic,_familial..0.012580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95883117571336877878TC336031BenignTroyer_syndrome..0.989021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95893117931337401917GTG319478BenignBare_lymphocyte_syndrome_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95903117961337402362CT328029Likely_benignBare_lymphocyte_syndrome_2..0.009380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95913117971337402440TC336079BenignBare_lymphocyte_syndrome_2..0.796131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95923118021337403143GA328035Likely_benignBare_lymphocyte_syndrome_2..0.141370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95933118091337419035GT319497BenignPrimary_pulmonary_hypertension..0.114420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95943118101337419042AGTTA319502BenignPrimary_pulmonary_hypertension..0.320890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95953118321337419636AAATGTTA336116BenignPrimary_pulmonary_hypertension...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95963118381337420301TAGATTAT319534BenignPrimary_pulmonary_hypertension...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95973118391337420348AG334428BenignPrimary_pulmonary_hypertension..0.430110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95983118831337422377AGA334468BenignPrimary_pulmonary_hypertension...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
95996752861337423032GA667127Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96006724861337439964CA667034Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96016838621337440146TC667035Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96028029601337580139GA791343BenignPontocerebellar_hypoplasia,_type_1c...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96032632991339262057GA254848BenignFraser_syndrome_1|not_specified0.999770.9999711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96041935351339263023CT190699BenignFraser_syndrome_1|not_specified0.186940.190330.084270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96051935361339263714TC190700BenignFraser_syndrome_1|not_specified.0.9999711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96062633001339430314CT254849BenignFraser_syndrome_1|not_specified0.72190.739770.771971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96072633011339433606AG254850BenignFraser_syndrome_1|not_specified0.397820.373370.43671|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96083120451339455266GA328237BenignFraser_syndrome_1..0.326280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96093120521339456352AG336408BenignFraser_syndrome_1..0.433910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96103120651339457064CG334678BenignFraser_syndrome_1..0.433910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96113120751339457850GA328254BenignFraser_syndrome_1..0.298720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96123120781339458116TC336428BenignFraser_syndrome_1..0.303710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96133120801339458405GA328262BenignFraser_syndrome_1..0.303710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96143120871339459389CT328264BenignFraser_syndrome_1..0.74741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96153120891339459484GA328272BenignFraser_syndrome_1..0.298720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96163120931339459694CT319727BenignFraser_syndrome_1..0.308710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96173120991339460415GA319745BenignFraser_syndrome_1..0.75041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96183121011339460466TA319746BenignFraser_syndrome_1..0.308511|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96193121041339460486CG319751BenignFraser_syndrome_1..0.434110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96203121061339460522TTAG,G336477BenignFraser_syndrome_1..0.464461|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
96213121111339460539ATA336493BenignFraser_syndrome_1...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96223121131339460657CT328287BenignFraser_syndrome_1..0.434310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96233121161339460823CT328291BenignFraser_syndrome_1..0.257190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96241934351340229842AAG190599Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96251934361340229891GA190600BenignCongenital_disorder_of_glycosylation|not_speci...0.43809.0.484430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96261934371340229957TA190601BenignCongenital_disorder_of_glycosylation|not_speci...0.416060.513150.484230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96273121391340261945AG336505Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.288480.259880.295531|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96283121531340325310CT328314BenignCongenital_disorder_of_glycosylation.0.514660.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96293121591340326282AG334793BenignCongenital_disorder_of_glycosylation.0.443610.275960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96303121601340326284CAC328326BenignCongenital_disorder_of_glycosylation...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96313121681341363595TC319824BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.577281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96326838711341372944CT667130Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96331391251341373254GA142828Benign/Likely_benignHyperornithinemia-hyperammonemia-homocitrullin...0.091570.079320.06290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96346720181341378982GA667132Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96351391261341379272CT142829Benign/Likely_benignHyperornithinemia-hyperammonemia-homocitrullin...0.125170.095510.113421|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96366720191341379550AG667040Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96371391271341382711AT142830BenignHyperornithinemia-hyperammonemia-homocitrullin...0.342230.372480.322680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96386740521341382886GA667391Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96396720201341383036AC667044Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96406838741341383515AG667046Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96413121871341384156AG336595BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.423720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96423121891341384318AG319839BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.423720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96433121901341384382CT336610BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.423720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96443121971341384732GC336614Likely_benignHyperornithinemia-hyperammonemia-homocitrullin.....0.052921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96453122041341385444GT319871Likely_benignHyperornithinemia-hyperammonemia-homocitrullin.....0.042130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96463122091341385658CA334838BenignHyperornithinemia-hyperammonemia-homocitrullin.....0.231630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96473122221343148313CG328402BenignOsteopetrosis..0.99881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96481932571343148565TC190421BenignOsteopetrosis|not_specified0.386150.523630.465460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96491952021343155443GA192363BenignOsteopetrosis|not_specified0.824850.811520.788341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96503122431343181318GT319888BenignOsteopetrosis..0.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96513122511343182002GT319894BenignOsteopetrosis..0.332870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96522260251347411985AG227777drug_responseMajor_depressive_disorder,_response_to_citalop.....0.727241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96535110891347469940GA504274Likely_benignnot_specified0.400660.407150.441290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96545110901347471478CT504813Likely_benignnot_specified..0.443490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96553122541348516845GT319895Likely_benignMitochondrial_DNA_depletion_syndrome..0.082271|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96563122591348517178TC328423Likely_benignMitochondrial_DNA_depletion_syndrome..0.082471|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96573122621348517289AG319904BenignMitochondrial_DNA_depletion_syndrome..0.941891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96586726311348522909TC667394Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96596764491348523567TC667140Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96606726301348523952CT666299Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96616841031348524020TC666305Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96626711301348524042AT667146Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96636716171348528007AG666307Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96646719991348529003CT667158Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96656701471348547170AC666308Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96666701461348547180CT667169Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96671393601348547467AT143063BenignMitochondrial_DNA_depletion_syndrome|not_speci...0.742040.751550.683511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96686764531348547663TC667174Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96691393581348563008GA143061BenignMitochondrial_DNA_depletion_syndrome|not_speci...0.741970.751520.683511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96706764211348563246AG666315Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96716712251348570710TC667177Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96726701451348571383CT666317Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96736764481348575587GC667072Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96746841021348575693GT667395Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96752558251348919358TG254854Benignnot_specified0.928320.960750.913741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96762558231349051012CT254858Benignnot_specified0.895820.955210.884981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96773123431352507110GC319950BenignWilson_disease..0.523960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96786804861352510160GA666319Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96792547701352511362CG254860Benignnot_specified|not_provided0.572810.560710.531750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9680357271352511606GA44391Benign/Likely_benignWilson_disease|not_specified|not_provided0.549090.537380.50180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96816804851352512888CT667078Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9682357201352515354AG44384BenignWilson_disease|not_specified0.577560.565260.540540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96836804831352516230TC666326Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96846804841352517955CT667405Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9685357131352520507CT44377Benign/Likely_benignWilson_disease|not_specified0.05290.058020.024960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9686357091352520627CG44373Benign/Likely_benignWilson_disease|not_specified0.095340.071990.113620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9687357081352523808CT44372BenignWilson_disease|not_specified0.571660.562690.530950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9688357071352524488TC44371BenignWilson_disease|not_specified0.552170.538440.50240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96896804811352531960CT667187Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96906760981352542796TG667410Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96913124051352585548GT336917BenignWilson_disease|Congenital_disorder_of_glycosyl...0.59505.0.516770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96925388711352585881AG528164BenignCongenital_disorder_of_glycosylation_type_1P|n.....0.072880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96934873231352586922TC463943Likely_benignnot_provided..0.021960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96943124221352603194GT335052BenignCongenital_disorder_of_glycosylation0.632860.647850.581270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96953124231352603241AG320003Likely_benignCongenital_disorder_of_glycosylation0.100030.111990.080070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96963124261352603775CT320004BenignCongenital_disorder_of_glycosylation0.564430.628810.510580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96975178231360240961CT504304Benignnot_specified0.202980.204120.146970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96985080941360385060AATTAC504579BenignAuditory_neuropathy,_autosomal_dominant,_1|not.....0.929111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
96995086091360545182GA505207Benignnot_specified|not_provided0.030690.026870.011980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97006831331360737996TCCGCT656213Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97011308611375861001AG136305Likely_benignnot_specified0.186440.083230.174320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97022123731375861174GGA208052Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97031305521375866284GA135998Likely_benignnot_specified0.08960.081980.036340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97041305501375876389GA135996Likely_benignnot_specified0.483120.491070.369211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97051305491375884216CT135995Likely_benignnot_specified0.765020.825640.711861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97061305481375884290GA135994Likely_benignnot_specified0.319730.357490.226040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97071305561375936519CG136002Likely_benignnot_specified0.99768.0.995211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97081305511376055602GA135997Likely_benignnot_specified0.072470.09670.111020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97097892201377460023GA713972Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97106707271377565972AG666343Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9711953961377566320CG101295Benign/Likely_benignSeizures|Neuronal_ceroid_lipofuscinosis|not_sp...0.02260.026930.012980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97127686201378272267TTGG702735Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97137686211378272276GGC702736Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97142266221378475313TC230450BenignWaardenburg_syndrome|not_specified|Hirschsprun...0.597430.57990.544730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97152266251378477674AG230453Benignnot_specified0.984930.994880.983831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97165060891386369120CT497033Benignnot_specified0.76610.721030.750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97173125291393879087GA337079BenignOmodysplasia..0.393571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97183125471395034749GA320094BenignOmodysplasia_1|Omodysplasia0.153010.210570.170930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97193125601395055795GGT328645BenignOmodysplasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97203125771395056768CT335285BenignOmodysplasia..0.18910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97213125981395059164AG337158BenignOmodysplasia..0.18990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97223126021395059304GC328704BenignOmodysplasia..0.881390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97232259591395714976CT227778drug_responsetenofovir_response_-_Metabolism/PK0.796560.812140.794331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97244027941399554621GA390093Benignnot_specified0.03320.044820.030150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97259544613100635377CT101345Benignnot_specified0.082270.079920.041730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
972666966213100635606GA667117Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
972766994713100809805AG667042Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
972866995313100861262CT666225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97299276513100921056AG98672BenignPropionyl-CoA_carboxylase_deficiency|not_speci...0.91750.977020.915941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973025573413101020695AG254773Benignnot_specified0.68230.696620.552721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973167616513101077774GA666233Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973226225313101776954GA254785Benignnot_specified|not_provided0.010460.008640.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973326225213101795422AG254786Benignnot_specified0.5050.490990.521770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973426225013101881777GA254788Benignnot_specified0.282950.28580.192290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973531090313103498198AG333317BenignXeroderma_pigmentosum..0.68891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973631090413103498375TC318811BenignXeroderma_pigmentosum..0.297920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973712900913103504517TC134455BenignXeroderma_pigmentosum|Xeroderma_pigmentosum,_g...0.61180.52910.493010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973825516113103524762CT254793BenignXeroderma_pigmentosum|Xeroderma_pigmentosum,_g...0.434490.45130.317090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
973913417213103527849GC137911BenignXeroderma_pigmentosum,_group_G|not_specified0.99746.0.99821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974013417313103527930GC137912not_providednot_specified0.99746.0.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974112901113103528002GC134457BenignXeroderma_pigmentosum|Xeroderma_pigmentosum,_g...0.305780.277680.361420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974231094513103528337GA318841BenignXeroderma_pigmentosum..0.549521|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974340344613103705044AC390031Benignnot_specified0.892430.860990.840261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974431094813108859846CT318850Likely_benignLig4_syndrome|Severe_combined_immunodeficiency.....0.129790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9745882013110435231CT23859risk_factorDIABETES,_TYPE_II,_SUSCEPTIBILITY_TO.0.382050.283350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974676863313110435302TC702582Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974725825513110813709GA254798BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.356760.375590.307911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974819752013110818598TG194681BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.32124.0.288341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
974925825113110827574TA254801BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.335920.35150.317890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975025825013110827580CT254802BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.33592.0.318090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975125824913110833702CT254803BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.321620.347680.307110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975225824813110835460CT254804Benignnot_specified0.105290.115250.081670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975325824713110839550TG254805BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975425826613110857823CT254807Benignnot_specified0.568580.619330.593451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975525826513110857895AG254808BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.570120.622240.596451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975625826213110859743CT254810BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.568660.621050.596051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975725826113110861785CG254811BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.85008.0.861221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975825825413110864225AT254813BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.439570.467230.472841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
975919847213110864264CT195633Benign/Likely_benignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.004840.007190.006590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976025826413110895092AG254814BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit...0.255880.190720.18990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976119321613110959356CG190381BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit....0.482360.424120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976231108713110959464CA335235BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.2480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976331108913110959643AC333543BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.615020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976431109013110959688CG327337BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.308911|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976531109113110959705CT327338BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.509391|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976631109213110959717TC333546BenignPorencephalic_cyst|Angiopathy,_hereditary,_wit.....0.306111|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976731109613111077197GA335259BenignPorencephalic_cyst0.932710.961350.942691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976831111713111098226CT333580BenignPorencephalic_cyst|not_provided0.489870.513720.482830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
976931111913111102042GA333585BenignPorencephalic_cyst|not_provided0.262850.314430.238620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977031112013111102126CT318936BenignPorencephalic_cyst|not_provided0.284760.338240.246810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977131112813111111173GA333595BenignPorencephalic_cyst|not_provided0.620970.528830.491411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977231112913111111235GA333604BenignPorencephalic_cyst|not_provided0.634580.538950.509191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977331113413111117745CT333615BenignPorencephalic_cyst|not_provided0.61320.538330.513981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977431114513111121620CT318982BenignPorencephalic_cyst|not_provided0.231060.255390.19091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977531115113111132556CT335312BenignPorencephalic_cyst|not_provided0.239880.310030.246410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977631115313111137240AG327386BenignPorencephalic_cyst|not_provided0.131240.156960.12580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977731117113111155779GA333642BenignPorencephalic_cyst|not_provided0.24198.0.18631/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977831118013111158874AG333651BenignPorencephalic_cyst|not_provided0.870920.832910.7521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
977931118313111160304GA319027BenignPorencephalic_cyst|not_provided0.087230.100980.100840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978031118813111164266CT335349Likely_benignPorencephalic_cyst0.004240.001350.005591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978131119013111164274TC327437Benign/Likely_benignPorencephalic_cyst|not_provided0.004330.001360.005591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978231120013111164614TC327453BenignPorencephalic_cyst..0.466250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978331120113111164628TAAT335357BenignPorencephalic_cyst...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978468345913111315506AC666983Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978568345813111315551AG667067Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978668345613111316043GC667070Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978768345513111316061CT666992Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978837994913111319754TC372639Benignnot_specified0.77480.80220.762381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
978968344713111354110TC667351Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
979025630713113792754TC254819Benignnot_specified0.786450.83590.802721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
979125630813113801737CT254820BenignFactor_X_deficiency|not_specified0.73912.0.62321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97921387291420940515CT142432Benign/Likely_benignPurine-nucleoside_phosphorylase_deficiency|not...0.181220.16640.172130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9793139921420940606GA29031BenignNUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM|Purine-n....0.191960.204670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97941387301420940626CT142433Benign/Likely_benignPurine-nucleoside_phosphorylase_deficiency|not...0.198290.193240.204470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97953127301420942744AG320249BenignPurine-nucleoside_phosphorylase_deficiency|not...0.240890.194330.202280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97963127451420945488TC328812BenignPurine-nucleoside_phosphorylase_deficiency..0.977441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97973127491420945817TC335445Likely_benignPurine-nucleoside_phosphorylase_deficiency..0.037140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97983127501420945864TTG328815Likely_benignPurine-nucleoside_phosphorylase_deficiency..0.170330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
97993127511420945906AC337323Likely_benignPurine-nucleoside_phosphorylase_deficiency..0.205270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98003127581420946151TC328851BenignPurine-nucleoside_phosphorylase_deficiency..0.322280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98013127681421152604CA320277Likely_benignAmyotrophic_Lateral_Sclerosis,_Dominant..0.097840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9802998271421770730AG105716BenignLeber_congenital_amaurosis|not_specified|Cone-...0.482480.548010.477240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
980349871421790040GT20026Benign/Likely_benignLeber_congenital_amaurosis|Cone-rod_dystrophy_....0.210490.167330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9804998121421792811GA105701Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Cone-...0.231370.212580.18470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98052612271421793236GA254910Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Cone-...0.214190.197150.145170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98062612281421796784GC254911BenignLeber_congenital_amaurosis|not_specified|Cone-...0.263760.337310.295330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98075877861421871653CT579920BenignHistory_of_neurodevelopmental_disorder0.940970.909260.907351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98084034611423240713TTAGC390596Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98091391971423242828TC142900BenignLysinuric_protein_intolerance|not_specified0.769180.86510.785540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98106840661423247687TC667572Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98113801861423282336GA373723BenignLysinuric_protein_intolerance|not_specified0.01430.012250.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98121391981423282449CT142901BenignLysinuric_protein_intolerance|not_specified0.562430.60730.606030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98136840631423282908TTGCAA666498Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98143128321423284572AG337424BenignLysinuric_protein_intolerance.0.529390.578080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98153128351423288935CG335556Likely_benignLysinuric_protein_intolerance..0.117010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98163128381423288953AG335564Likely_benignLysinuric_protein_intolerance..0.117010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98172587101423856896AG254919Benignnot_specified0.467780.495740.471650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9818366281423858271AGA45290Conflicting_interpretations_of_pathogenicityAtrial_septal_defect|Cardiomyopathy|Hypertroph......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9819445441423872666TC53711Benign/Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat...0.828080.756510.784940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98201886491423882043CT186460Benign/Likely_benignHypertrophic_cardiomyopathy|Scapuloperoneal_my...0.004840.004960.00140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98216676191423897466GA667431Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9822431161423899793GA52286BenignCardiomyopathy|Hypertrophic_cardiomyopathy|Sca...0.020990.020850.014580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9823428691423902753GA52039BenignCardiomyopathy|Hypertrophic_cardiomyopathy|Sca...0.527530.488850.520370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98243129351424550224CT335678Likely_benignRetinitis_Pigmentosa,_Dominant..0.417131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98258030111424567498AC791396BenignPhosphoenolpyruvate_carboxykinase_deficiency,_......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98267698571425101548GA702849Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98277698581425101589GC702850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98287698591425101629TC702851Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98291776811431347012TC176082Benignnot_specified|not_provided..0.213860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98302265251431355096CG230521BenignDeafness,_autosomal_dominant_9|not_specified|N...0.511990.549150.411340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98312265281431355527CA230525Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.043420.065910.071691|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98326698111431535057AG667323Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98336800711431541938CAAGTC667452Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98346832121432047450CA667453Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98356832331432068215AG666544Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98366714891432068242AC666547Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98376832341432142930AG667455Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98386699371432256711AG666548Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98396832371432296156GA667460Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98406699411432319562AG667648Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98416695261432328164GT666554Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98423130321432328508GC337651Likely_benignMitochondrial_complex_I_deficiency..0.06251|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98433130461432329381TC329185BenignMitochondrial_complex_I_deficiency..0.605030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98443130671432330071AG337727BenignMitochondrial_complex_I_deficiency..0.486020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98453130681432330080GA320435BenignMitochondrial_complex_I_deficiency..0.486020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98463130721432330260AG329216BenignMitochondrial_complex_I_deficiency..0.49760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98473130791435180033CA335822BenignNemaline_Myopathy,_Recessive.0.246890.275960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98483130821435180389TA320449BenignNemaline_Myopathy,_Recessive.0.413040.342050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98493130831435180677ATA329225BenignNemaline_Myopathy,_Recessive...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98503130881435181146AG337734BenignNemaline_Myopathy,_Recessive.0.246220.276160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98513130941435181786TC329237BenignNemaline_Myopathy,_Recessive.0.25630.30990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98526738081435183213TC667337Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98536812651435183888CG667658Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98546688811435184228CT667664Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98556680711435184246TC667472Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
985667961435761675CG21835risk_factorMyocardial_infarction0.13094.0.19030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98573131051435871093CT337761BenignEctodermal_dysplasia_and_immunodeficiency_2|no.....0.455671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98583131081435871217GA329242BenignEctodermal_dysplasia_and_immunodeficiency_2|no...0.444870.40110.447881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98593131171435873770GA329256BenignEctodermal_dysplasia_and_immunodeficiency_2|no...0.228690.343090.244411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98603131281436986022CACAA,C335868Uncertain_significanceBenign_hereditary_chorea|Choreoathetosis,_hypo......1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
98613131331436986273AT320501BenignBenign_hereditary_chorea|Choreoathetosis,_hypo.....0.621810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98623131491436989419CA329293BenignBenign_hereditary_chorea|Choreoathetosis,_hypo.....0.108030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98633131521437126871AAC337831Likely_benignSelective_tooth_agenesis...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98643131551437127044CG337835Likely_benignSelective_tooth_agenesis..0.37620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98652599371437135753GC254940Benign/Likely_benignSelective_tooth_agenesis|Tooth_agenesis,_selec...0.316720.432490.331670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98666837291439556185GC656251Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98672613851445645715AG254947Benign/Likely_benignFanconi_anemia|not_specified0.020680.025310.012980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98682613911445665661AG254952Benign/Likely_benignFanconi_anemia|not_specified0.02076.0.008590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98693132491450087753TC320629BenignPrimary_ciliary_dyskinesia|Congenital_disorder....0.49350.295330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98703132701450091932TA329433BenignPrimary_ciliary_dyskinesia|Congenital_disorder.....0.541530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98711630911450092471TC175940BenignPrimary_ciliary_dyskinesia|Congenital_disorder...0.420730.4510.308710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98722610171450094913CA254955Benignnot_specified0.725310.63840.541930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9873958921450100386TC101788BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.666360.648590.488220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9874958911450100683CG101787BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,....0.613460.55910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9875958941450101370GA101790BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.685250.652510.493410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9876958931450101682CG101789BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.71338.0.493210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98775170591450585574CCA505456Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98785615231450596862TC552772Benignnot_provided..0.853831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98795615241450597012TC552774Benignnot_provided..0.530151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98805616061450601078CT552781Benignnot_provided..0.241411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98815616041450605158CT552786Benignnot_provided..0.844451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98825618381450606384AG552787Benignnot_provided..0.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98835616051450606434TC552788Benignnot_provided..0.25141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98845615381450606897AG552791Benignnot_provided..0.884781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98855615181450611845CT552792Benignnot_provided0.862710.871620.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98865615371450612401TC552793Benignnot_provided..0.833871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98875616031450612414CT552794Benignnot_provided..0.853441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98885616021450612457CT552795Benignnot_provided..0.833871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98893847101450616878GA376065Benignnot_provided0.607950.621450.518371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98905616011450619927AG552796Benignnot_provided0.31342.0.24721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98915616321450625194TTGAGT552800Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98925615991450626836CT552804Benignnot_provided0.862290.871610.853041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98935618711450627934GA552806Benignnot_provided..0.522761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98945618361450627948CT552807Benignnot_provided..0.893171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98955615971450628481CA552808Benignnot_provided..0.994811|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98965615311450641347TG552812Benignnot_provided..0.892571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98975618681450654921GA552824Benignnot_provided..0.24721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98985618351450654949CT552825Benignnot_provided..0.837061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
98995615931450655146CTATTC552827Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99005615411450666263CT552830Benignnot_provided..0.536141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99015615901450667526GA552832Benignnot_provided..0.852041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99025618651450668067GA552834Benignnot_provided..0.2481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99035615191450670965GC552835Benignnot_provided0.882250.883280.857831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99043837791450671133AG376072Benignnot_provided0.318760.343720.242011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99051587971450732042GA169064Likely_benignnot_specified0.35930.437670.417130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99061588011450750577AG169066Likely_benignnot_specified0.499620.539590.504791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99071587981450769717GA169068Benign/Likely_benignnot_specified|not_provided0.574270.57010.596651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99081587991450778816AC169070Benign/Likely_benignnot_specified|not_provided0.563190.599910.572681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99096780561451000140AT666568Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99106780571451000145GA667341Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9911215301451057727GA34382BenignSpastic_paraplegia_3|not_specified|Spastic_par...0.795860.763270.821490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99126780581451060452AG667345Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99136704981451062162GA667348Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99146704991451062455GA667481Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99156780591451081449CT666571Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99166687351451081515CT666574Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99176705001451087263AG667665Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99186780691451087689GA667486Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99196780701451089727GT666578Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99206780711451090102CCAT667670Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99216780721451090115TG667349Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99226705011451096610GGTTCTT667356Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99231297971451204996CT135243Likely_benignnot_specified0.577890.504420.508790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99241297961451206021AG135242Likely_benignnot_specified0.991310.997570.992611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99251948841451223789CT192046BenignSeckel_syndrome_7|not_specified0.792250.745360.764380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99262811071451224374TG265344BenignSeckel_syndrome_7|not_specified0.807630.753260.784940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99271297871451224417GC135233Likely_benignnot_specified0.200910.227190.18630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99281297841451225097TC135230Likely_benignnot_specified0.014990.016050.008990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99291297791451237701AG135225Likely_benignnot_specified0.503310.620670.577281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99301298031451239067CG135249Likely_benignnot_specified0.9907.0.992411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99312588281451372098CAC254969BenignGlycogen_storage_disease,_type_VI|not_specifie......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99322588291451372103CG254970BenignGlycogen_storage_disease,_type_VI|not_specifie...0.150090.235690.2510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99332588381451375699TTA254975Likely_benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99341946271451378590CTC191790BenignGlycogen_storage_disease,_type_VI|not_specifie......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99352588301451383432GA254983BenignGlycogen_storage_disease,_type_VI|not_specifie...0.138170.225290.235420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99366681151453521648GA667674Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99376792731453522806AG667358Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99383799631453529669AT374264Benignnot_specified0.76834.0.817691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99396792721453540249AG666585Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99403799621453619463GA376096Benignnot_specified.0.845510.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99412211311453619480TTGCCGCC222375Benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99423799601453619544GA374268Benignnot_specified0.70383.0.75041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99431971901454417522AG194351Benign/Likely_benignMicrophthalmia_syndromic_6|Orofacial_cleft|not...0.450020.457020.325680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99444307181455222475TC424257associationLip_and_oral_cavity_carcinoma..0.402960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99453133671455309505GA320709BenignGTP_cyclohydrolase_I_deficiency|Dystonia,_dopa.....0.033750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99463133781455310003TC336167BenignGTP_cyclohydrolase_I_deficiency|Dystonia,_dopa.....0.074080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99473134041455369502AG336185BenignGTP_cyclohydrolase_I_deficiency|Dystonia,_dopa.....0.945691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99488030311458937416TC791416BenignJoubert_syndrome_23...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99493134261460975956TC329589BenignAnophthalmia_-_microphthalmia..0.824881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99502601631460976537CA254993BenignCataract,_microphthalmia_and_nystagmus|not_spe...0.435640.515260.341451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99513134361460978071CG329623BenignAnophthalmia_-_microphthalmia..0.803321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99523134501461112234TAT338147BenignBranchiootorenal_Spectrum_Disorders|Nonsyndrom......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99533134591461112667GC338171BenignBranchiootorenal_Spectrum_Disorders|Nonsyndrom.....0.771171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99541305011464491695TC135947BenignEmery-Dreifuss_muscular_dystrophy|not_specifie...0.740610.811780.678911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99551305031464494278CT135949BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.8124.0.7521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99561305041464496749CT135950BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.741050.812190.671931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99571305081464497930GA135954BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.768820.820930.702481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99581305111464498037GA135957BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.878070.892380.837261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99591305131464519035AG135959BenignEmery-Dreifuss_muscular_dystrophy|Emery-Dreifu...0.912410.906760.861821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99601305161464519455AG135962BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.72288.0.665141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99611305201464522674GC135966BenignEmery-Dreifuss_muscular_dystrophy|not_specifie...0.739990.807630.681311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99621305211464522843AG135967BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.74131.0.682311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99631304881464656855TC135934BenignEmery-Dreifuss_muscular_dystrophy|Emery-Dreifu...0.491850.39430.487020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99641304891464681193CT135935BenignEmery-Dreifuss_muscular_dystrophy|Emery-Dreifu...0.508460.470160.583270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99651304901464686125GT135936BenignEmery-Dreifuss_muscular_dystrophy|not_specified0.260650.240950.209670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99662811961464688175GC265433Benignnot_specified|not_provided..0.68830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99673136811464692630GC320910BenignEmery-Dreifuss_muscular_dystrophy..0.68950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99683136841464692825GA329957BenignEmery-Dreifuss_muscular_dystrophy..0.69090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99694031141464882380AG390190Benignnot_specified0.831540.833080.823481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
9970136331464908845GA28672BenignNeural_tube_defects,_folate-sensitive,_suscept....0.43540.341850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99712571201465245863CG255009Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.36245.0.410540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99722571191465245956CT255010Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.363760.280920.411540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99732571181465245962AG255011Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.361910.281360.411940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99742571171465246623TC255012Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.423570.349440.445090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99752571151465249052CG255014Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.06189.0.101640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99762571081465253232TC255019Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.404430.338110.469450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99772571021465260227TG255024Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.460020.391650.450280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99782570981465263300CT255027Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.436340.380360.466851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99792570971465263347CT255028Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.252580.263850.281350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99802571381465267469TC255029Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.380060.326050.37340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99812571061465271650AG255034Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.427650.369320.466051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99822570991465271780GA255035Benign/Likely_benignElliptocytosis|not_specified|Spherocytosis,_Do...0.043750.053440.068090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99833137931465542067CG330076BenignPheochromocytoma..0.513381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99843138011465542607CT338566BenignPheochromocytoma..0.545931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99853138021465542629CT338569BenignPheochromocytoma..0.514781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99863138071465542790GA320994BenignPheochromocytoma..0.511781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99876769311465544450CT667677Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99884028871466028446AG390197Benignnot_specified|not_provided0.699480.704570.756790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99892613551467147816TC255036Benignnot_specified0.314130.266110.450280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99903138511468213571CT330125BenignSpastic_Paraplegia,_Recessive..0.950081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99913138521468213744GA321033BenignSpastic_Paraplegia,_Recessive..0.950081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99923138531468213792AG336646BenignSpastic_Paraplegia,_Recessive..0.31350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99933138661468214788TC338611BenignSpastic_Paraplegia,_Recessive..0.494010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99941307831468234539TC136229Benignnot_specified|Spastic_Paraplegia,_Recessive|no...0.941720.954580.903161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99956699871468234845TC667498Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99966703431468236522GA667369Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99976675921468238499TG667370Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99986699791468243075CA666593Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
99993139051468250112GA338688Benign/Likely_benignnot_specified|Spastic_Paraplegia,_Recessive|no...0.036290.013890.027160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100006699781468250514AC667503Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100016951381468264867AG684516Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100026781881468270680GC666604Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100036699741468273812TC667511Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100042571881470418881GA255038Benignnot_specified0.187220.24970.217050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100052571891470477508CT255039Benignnot_specified0.136780.201250.205670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100062571901470478183CA255040Benignnot_specified0.010150.200680.205670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100072547141473664853GT255043Benignnot_specified0.619330.627990.671530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100083139561473686361TC338754Likely_benignEarly-Onset_Familial_Alzheimer_Disease|Dilated.....0.021170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100093139601473686944GA330249Likely_benignEarly-Onset_Familial_Alzheimer_Disease|Dilated.....0.145970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100103139621473687144CT336732Likely_benignEarly-Onset_Familial_Alzheimer_Disease|Dilated.....0.670330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100116845191474041748AG672091Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100123140601474165101AT321179BenignPrimary_ciliary_dyskinesia..0.866610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100133140691474165516AG321192BenignPrimary_ciliary_dyskinesia..0.866610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100143140821474166590AC321202Likely_benignPrimary_ciliary_dyskinesia..0.036540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100153140841474166821GA321205Likely_benignPrimary_ciliary_dyskinesia..0.282750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100163140911474167061GAG321210BenignPrimary_ciliary_dyskinesia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100173140951474167371CT321215Likely_benignPrimary_ciliary_dyskinesia..0.092250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100183141101474168625GA321229BenignPrimary_ciliary_dyskinesia..0.866211/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100193141421474169649CCA321236Uncertain_significancePrimary_ciliary_dyskinesia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100203141491474169995CT321248BenignPrimary_ciliary_dyskinesia..0.866610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100213141531474170321GA338910Likely_benignPrimary_ciliary_dyskinesia..0.295530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100226835651474419825GA667526Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100236694721474422843TC667703Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100246835661474422923TC667704Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100251288351474424938TC134283Benignnot_specified|not_provided0.303010.328130.18490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100261369821474428286AG140685Benignnot_specified0.83415..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100271288341474428445GA134282Benignnot_specified|not_provided0.384520.434630.345451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100283141611474526942AG321265BenignMethylmalonate_semialdehyde_dehydrogenase_defi.....0.322480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100293141651474527190AG338925BenignMethylmalonate_semialdehyde_dehydrogenase_defi.....0.241610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100303141661474527203GA321269BenignMethylmalonate_semialdehyde_dehydrogenase_defi.....0.993011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100313141781474537885TG338938BenignMethylmalonate_semialdehyde_dehydrogenase_defi...0.39320.41110.536740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100321678401474711883CT178152BenignMicrophthalmia,_isolated_6|not_specified|VSX2-...0.388360.421660.259980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100332596191474759006CT255050Benignnot_specified0.307240.327590.270370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100342596221474759301GT255051Benignnot_specified0.299250.324350.262980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100352596211474759477CT255052Benignnot_specified0.307470.328520.270370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100362596201474766352AG255053BenignMETHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cbl...0.29902.0.262580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100373142541474966763GA337136Likely_benignPrimary_congenital_glaucoma|Weill-Marchesani_s.....0.299920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100387709971475230654TA702989Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100393143281475469634AG330581Uncertain_significanceLeukoencephalopathy_with_vanishing_white_matter...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100402603651475470446CA255061Benignnot_specified0.984470.995630.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100413143421475476071GC339147Benign/Likely_benignLynch_syndrome|Leukoencephalopathy_with_vanish.....0.517570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100423143451475480637TC337219Benign/Likely_benignLynch_syndrome|Leukoencephalopathy_with_vanish.....0.365220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100433143511475481368CT339162Likely_benignLynch_syndrome..0.345250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100443143561475481908AG337227Likely_benignLynch_syndrome..0.335660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100453143611475482443AGA330620Likely_benignLynch_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100463143641475482827CGAT321382Uncertain_significanceLynch_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100472572531475483812TC255063Benign/Likely_benignLynch_syndrome|not_specified0.501920.563440.580070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100482572521475513828GA255064Benign/Likely_benignLynch_syndrome|not_specified0.442640.412640.363820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100492572511475513883TC255065Benign/Likely_benignLynch_syndrome|not_specified0.988770.99680.990421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100503144041476045193GTCG339228BenignProliferative_vasculopathy_and_hydranencephaly......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10051958171476045691CT101714Benign/Likely_benignProliferative_vasculopathy_and_hydranencephaly...0.175230.167580.179311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100526771891476156609CT656263Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100536771901476201482GT667379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100546771911476232398TC666618Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100556839941476429369CA667710Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100566839921476431674TC667392Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100573144701476543004GA337337BenignCranioectodermal_dysplasia0.24950.260740.168930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10058450021476957887TC54169Benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.996310.998620.992811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100593144961476967707TC337357Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.399960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100603145071477741394TC321465Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.291330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100613145191477741971GT339428Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.109430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100623145201477741977CT321479BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.852241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100633145251477742203TC337398Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.148361/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100643145261477742218CT339435BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.855831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100653145311477742582CT321492BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.511580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100663145361477742929CT337416BenignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.510980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100673145451477743132CT330773Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.144370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100683145521477743644GA339471Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive..0.268570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100691669011477745193AC177616Benignnot_specified0.819470.817640.847051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100706680391477745376GA667724Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100712602971477746310GA255069Benign/Likely_benignnot_specified|not_provided0.12179.0.178510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100726715461477749874GA666659Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100736709671477750057TG667746Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100746741641477751238GA666664Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100756730221477751688AG667749Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100766680361477751729TC667760Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100771669061477751925CT177620Benignnot_specified0.8280.820820.858231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100782602901477755221TG255076Benignnot_specified|not_provided0.52161.0.476440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10079955331477757743GA101432Benignnot_specified.0.079690.110420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100806839601477762872CT667544Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100816839551477764771GA667766Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100826730211477764820TC666670Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100836680161477767382AG666673Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100846730201477778485TC667779Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10085955361477786863CA101435Benign/Likely_benignnot_specified|Limb-Girdle_Muscular_Dystrophy,_...0.041990.123050.083070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100863145651477787148CT321504Benign/Likely_benignLimb-Girdle_Muscular_Dystrophy,_Recessive|not_.....0.052120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100871948861477896048CT192048Benignnot_specified|not_provided0.005770.006340.003190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100883145841477973953GGCA330820BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.851241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100893145851477973982TC321535BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.945091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100903145891477974181CA330822BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.596251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100913146031477974990CT330839BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.768971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100923146041477975015AT321542BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.947481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100933146061477975103TG337479BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.776161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100943146281477976325TC330855BenignHereditary_sensory_and_autonomic_neuropathy_ty.....0.760581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100956701401477984573CT667550Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100966705861477987958CA667792Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100976701381478018246TC667429Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100986705701478018614CT666680Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
100996705691478023519CG667440Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101006701371478023714AG667563Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101013146721478028803AG330884BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.833850.902940.837460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101026701361478029082CT667565Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101036675231478036394GA667568Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101046705681478036899AGA667802Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101056705671478036935AG667443Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101063146811478082952CA337525BenignHereditary_sensory_and_autonomic_neuropathy_ty...0.01665.0.027760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101076675221478083349CT667808Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101086740921478709814TC667570Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101092559541481574687TTTCTC255094Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101101354031481575005CA139142not_providednot_specified0.64247.0.610221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101111354001481610583GC139139Benign/Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non...0.923340.900380.896771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101123147051481610942CT339647Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.843251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101133147081481611128TC339648Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.284350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101143147111481611606CT337591Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.155750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101153147161481611919GC330908Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.293131|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101163147191481612114TC339661Likely_benignCongenital_hypothyroidism|Hyperthyroidism,_non.....0.293530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101173147271488399488AC339667BenignGalactosylceramide_beta-galactosidase_deficiency..0.488620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101183147291488399623TC337616BenignGalactosylceramide_beta-galactosidase_deficiency..0.447880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101193147311488399801CT337617BenignGalactosylceramide_beta-galactosidase_deficiency..0.488820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101203147321488399887TATCT330918BenignGalactosylceramide_beta-galactosidase_deficiency..0.493410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101213147341488400087CT339676BenignGalactosylceramide_beta-galactosidase_deficiency..0.94091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101223147361488400353CT339677BenignGalactosylceramide_beta-galactosidase_deficiency.0.436280.447480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101233147411488400486AG339688BenignGalactosylceramide_beta-galactosidase_deficiency..0.493410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10124925001488401213TC98409BenignGalactosylceramide_beta-galactosidase_deficien...0.95948.0.94071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101256803101488401392GA666692Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101266803071488406120CT667457Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101276803061488406127GC666693Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101284457921488407716TTA439064Likely_benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10129924991488407734GC98408BenignGalactosylceramide_beta-galactosidase_deficien...0.959640.983030.94091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10130924981488407875TA98407BenignGalactosylceramide_beta-galactosidase_deficien...0.96025.0.94091|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10131924971488407888AG98406Benign,_otherGalactosylceramide_beta-galactosidase_deficien...0.522390.44060.447480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10132924961488407917GA98405BenignGalactosylceramide_beta-galactosidase_deficien...0.431220.541290.488821|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101336826631488408221TC666696Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101346803041488411693AG667463Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101356803031488411803TC666699Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101361671181488411947TC177737Benignnot_specified0.960840.983190.942691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101376803021488412310GA667583Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10138924941488414211GA98403BenignGalactosylceramide_beta-galactosidase_deficien...0.408310.373370.366610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101396803001488416390AG666701Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101406802991488416441CT667585Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10141924931488417095GAG98402Conflicting_interpretations_of_pathogenicityAbnormality_of_brain_morphology|Galactosylcera......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101426802981488417244CT667590Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101436802961488417289AG667593Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101446826621488434409AT667475Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101458013971488852279TGT789778Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101462868661488862529GA271103Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Retin...0.410950.347280.407550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101471307651489042180TG136211Likely_benignnot_specified0.59250.618780.485821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101482625161489307320TC255109Benignnot_specified0.198290.211530.18871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101493148071489343992GA337713BenignBardet-Biedl_syndrome|Retinitis_Pigmentosa,_Re.....0.199881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101506746131490863489GA656269Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101516833001490863870CT667831Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101526746141490866346CT667624Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101536687191490869913CT667628Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101541581181491739081AG167971Benignnot_specified0.922730.852410.805911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101551581101491763637CT167963Benignnot_specified0.586350.530360.494010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101567136231491766410CT725855Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101571580991491773494GA167951Benignnot_specified0.122680.159550.166330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101581580981491773568TC167950Benignnot_specified0.57940.533570.480430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101591581201491883967GT167973Benignnot_specified0.35478.0.363220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101606838691492336989CT667834Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101616835181492344300AG667632Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101626835161492347345CA666726Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101631634501492347680AG176093BenignMacular_degeneration|not_specified|Cutis_Laxa,...0.756810.76090.784941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101646835151492348975AG666729Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101656721161492499348TG667644Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101666677611492505600CA667904Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101671285101492549586GA133959Likely_benignnot_specified0.54160.502760.566690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1016814201492773663GT16459associationSkin/hair/eye_pigmentation,_variation_in,_6..0.260781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101695863771494187832CT577377Benignnot_provided0.582580.603170.49881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101705863761494245649AG577378Benignnot_provided0.728960.691980.585661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101715863781494245652CT577380Benignnot_provided0.45092.0.363020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101723150041494843565TC321840BenignAlpha-1-antitrypsin_deficiency..0.662540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101733150081494843818AG331149Likely_benignAlpha-1-antitrypsin_deficiency..0.696291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101743150091494843932AG321853Likely_benignAlpha-1-antitrypsin_deficiency..0.465061|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101753150151494844305CT331152Likely_benignAlpha-1-antitrypsin_deficiency..0.271970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101763150181494844470CA337963Likely_benignAlpha-1-antitrypsin_deficiency..0.25120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10177179551494847415AG32994Benign/Likely_benignPI_M1-ALA213|PI,_M1A|Alpha-1-antitrypsin_defic....0.221450.24940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10178180511495080803GA33090BenignANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM|n...0.40220.448020.399360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101793150631495554142TC331201BenignPleuropulmonary_blastoma|not_provided..0.172320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101803150751495555205CT321892BenignPleuropulmonary_blastoma..0.990021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101813150961495556508CAC331225Uncertain_significancePleuropulmonary_blastoma...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101823150981495556747AT321919BenignPleuropulmonary_blastoma|DICER1-related_pleuro.....0.908950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101835165801495581899GA505595BenignDICER1-related_pleuropulmonary_blastoma_cancer.....0.165740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101846768151495582544AC667564Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101856768141495595654TC667909Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101863799741496010424GA373305Benignnot_specified0.116560.119750.083070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101874023611496916228CT390143Benignnot_specified0.330330.405140.31510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101884023631496922752CG390149Benignnot_specified0.87060.838420.884591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101896756861497299591GA667649Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101901307311497299853AG136177BenignPontocerebellar_hypoplasia_type_1A|Pontoneocer...0.33090.356470.289540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101916808381497303816CT666770Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101926702711497303879AG666774Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101936702721497303954AG667566Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101946808431497304453TC667569Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101956702731497312188TC667650Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101966702741497312642GA667923Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101976727171497313402GT667925Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101986727181497323086AT667656Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
101996808441497323184GT667931Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102006808411497323229CT667933Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102016756871497342500CG666781Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020266812014102492656AG667499Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020367935614102506308AG667276Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020468135914102507065GC666418Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020566890014102509953GC667286Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020667405614102510874GA667189Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020712892914102514227TC134376Benign/Likely_benignCharcot-Marie-Tooth_disease,_type_2|History_of...0.303630.229210.347240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020867936114102514713GA666440Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1020912893214102515015GA134379Benign/Likely_benignCharcot-Marie-Tooth_disease,_type_2|not_specif...0.295330.231080.31450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021067936214102515171AG667301Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021131267214102517132CT335355Likely_benignCharcot-Marie-Tooth_disease,_type_2|Spinocereb.....0.027960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021267071014102875200AG666461Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021367023114102881323TG667506Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021438089014102891646AG373680Benignnot_specified0.369680.36270.305511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021538087314102894593GA375852Benignnot_specified0.965610.883340.860421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021667225714102897922GA667321Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021767074114102900336CT666468Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021867074214102900407GA667328Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1021938090114102901023GA374019Benignnot_specified0.137010.086040.103240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022038089114102901201AG372957Benignnot_specified0.274180.282960.214860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022151666614102904551CCCCGCTCCCTGCTC504407Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022266754914102910423AG667241Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022367074314102911913TC667513Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022424092414102912150CA241780BenignSpastic_paraplegia_49,_autosomal_recessive|not...0.016450.01830.007190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022567074414102919047CT667339Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022667226014102964359CCGCCCAAGCTCCCAGCTCCATCTGT667346Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022737994214104029378CG375870Benignnot_specified|not_provided0.26937.0.234631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10228894414104165753GA23983risk_factorCutaneous_malignant_melanoma_6.0.307510.216851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1022926160314105167807CT254882BenignFocal_segmental_glomerulosclerosis|Focal_segme...0.982270.978250.986621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023068364014105168414CT667250Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023168364114105176781GA667262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023226160614105177351CAC254892BenignFocal_segmental_glomerulosclerosis|Focal_segme...0.571710.610980.694891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023368192014105178089TC666487Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023468194014105178098GC666493Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023568194314105178153CT667557Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023668364214105178478TC667363Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023768194414105179043GC667364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023868194614105179081GA667558Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1023926161114105179194TC254897BenignFocal_segmental_glomerulosclerosis|not_specifi...0.88030.860830.909351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024068195014105180484CT667266Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024126161314105180565TC254899BenignFocal_segmental_glomerulosclerosis|not_specifi...0.797530.806020.844251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024226161714105180706AC254903BenignFocal_segmental_glomerulosclerosis|Focal_segme.....0.694891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024368195114105181848AG667567Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024468195314105181851CT667268Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024531272114105185666GT337289BenignFocal_segmental_glomerulosclerosis..0.548121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024676940314105196230AC702775Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024749867014105239894CT490094BenignCowden_syndrome_6|not_specified0.201630.314130.322480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024869529914105246325TA685395Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1024980305314105268228GA791385BenignLethal_congenital_contracture_syndrome_6...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1025040234814105412009AG390106Benignnot_specified.0.454730.385180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102514029061520739825GA390122Benignnot_specified.0.08959.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102523153411523043896GA322078BenignSpastic_paraplegia,_autosomal_dominant..0.555710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102533153561523045127GA340084BenignSpastic_paraplegia,_autosomal_dominant..0.076880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102543153751523046314CG331344BenignSpastic_paraplegia,_autosomal_dominant..0.447880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102553153871523046770TTAA322041BenignSpastic_paraplegia,_autosomal_dominant..0.721450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102563153891523046848TC322040BenignSpastic_paraplegia,_autosomal_dominant..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102573153901523046855GT331337BenignSpastic_paraplegia,_autosomal_dominant..0.963861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102583153991523047266GA338174BenignSpastic_paraplegia,_autosomal_dominant..0.110220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102593154051523047702GC338164BenignSpastic_paraplegia,_autosomal_dominant..0.410140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102603154101523047857GA338158BenignSpastic_paraplegia,_autosomal_dominant..0.68790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102613154161523048392TACT338138BenignSpastic_paraplegia,_autosomal_dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102621298041523052632TC135250BenignSpastic_paraplegia_6|not_specified|Spastic_par...0.65370.735890.704070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102636676731523060625GC667672Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102646798471523086770GC666784Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102653154471525219512TC331389Likely_benignAutism_spectrum_disorder0.50964.0.521771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102662568181526806064TC255127Benignnot_specified0.342610.345620.473640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102676687991526806659GA667588Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102686687981526813137CT667971Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102696826571526825179AG667591Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102706802811526874395TC667689Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102716687921527017253GT667981Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102722568191527017536GA255131Benignnot_specified0.101740.222090.18690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102733779041527018797GA376374BenignSeizures|not_specified|not_provided0.115130.298250.198080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102742557301528090173CT255132BenignOculocutaneous_albinism|not_specified0.174690.262150.282750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102751956431528096538AG192804BenignOculocutaneous_albinism|not_specified0.496460.449260.50240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102762557221528211921GA255140BenignOculocutaneous_albinism|not_specified0.567050.563840.364021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102772557201528228644GA255141BenignOculocutaneous_albinism|not_specified0.531520.546020.321291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102781939861528231793TC191149BenignOculocutaneous_albinism|not_specified0.709130.779330.693291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102792557161528235773CT255145BenignOculocutaneous_albinism|not_specified0.598880.636720.410741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1028047451528365618AG19784associationSkin/hair/eye_pigmentation,_variation_in,_1..0.177320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1028147441528513364TC19783AffectsSkin/hair/eye_pigmentation,_variation_in,_1..0.388581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1028247431528530182CT19782associationSkin/hair/eye_pigmentation,_variation_in,_1..0.379591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102832604921531197564GA255152Benignnot_specified0.319520.459410.422520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102842604911531229420TC255153Benignnot_specified0.34820.47550.457070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102853155111531330280AG322164BenignCongenital_Stationary_Night_Blindness,_Recessive0.773620.810390.759391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102861938561531342744CT191019Benignnot_specified|Congenital_Stationary_Night_Blin...0.438990.541930.519171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102871963431531362352CT193504Benignnot_specified|Congenital_Stationary_Night_Blin...0.792640.799050.790941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102883155401531369123AG331492BenignCongenital_Stationary_Night_Blindness,_Recessive0.829530.844650.894371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102897828851532455479AG714380Likely_benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102902847631533191023AG269000Benignnot_specified0.665670.579540.657750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102914618371533855175CT464817Benignnot_provided0.02730.009870.027560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102924618921533916152TA463991BenignEpileptic_encephalopathy0.053920.016270.055310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102933155471534522557GA322184Likely_benignAndermann_syndrome..0.176921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102943155551534522935GAGACG331510Likely_benignAndermann_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102953155561534522985CG322193BenignAndermann_syndrome..0.967051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102963155611534523278GA331514Likely_benignAndermann_syndrome..0.177121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102973155651534523445TC338420Likely_benignAndermann_syndrome..0.215261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102983155671534523563CCG340191Likely_benignAndermann_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
102993155811534524117ATTA338444Likely_benignAndermann_syndrome..0.176921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103003155821534524236GC340194Likely_benignAndermann_syndrome..0.173521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103013155871534524590AG340206BenignAndermann_syndrome..0.945691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103023155951534524995GT331534BenignAndermann_syndrome..0.789541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103036698871534527085CA666814Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103046701001534527713GA667989Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103056700981534528588GT667604Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103061598931534529776AG169111Likely_benignnot_specified0.147410.188980.207071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103076698821534534723AG667617Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103086700941534536090CT667620Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103091598911534536143GT169112Likely_benignnot_specified0.02862.0.021771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103106705661534537435CT667626Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103116700931534542730TC667990Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103126700921534542739GC666818Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103131391211534542872CG142824Benign/Likely_benignAndermann_syndrome|not_specified0.15602.0.207271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103146734521534543298GGA666820Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103151391201534544351CA142823Benignnot_specified0.1550.231260.206871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103161391191534544468CT142822Benign/Likely_benignAndermann_syndrome|not_specified0.1551.0.206871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103176698671534544852AT667633Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103186687551534546259AG666821Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103196700891534546434TC667698Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103206700881534546451GC667700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103216705641534550009TTA667645Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103226700861534550118CT666825Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103236700851534550206CCAAAG667995Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103241598981534551082GA169119BenignAndermann_syndrome|not_specified0.234110.251090.276761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103256674601534628322TC666835Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103261598921534628570CG169121Likely_benignnot_specified0.47239.0.487621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103273156281534629024CT340236Benign/Likely_benignAndermann_syndrome|Dyskeratosis_Congenita,_Rec.....0.210661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103286700841534629096TA666843Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103296798681534629167GA666846Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103303156311534634033AG340242Benign/Likely_benignAndermann_syndrome|Dyskeratosis_Congenita,_Rec.....0.210061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103313156331534634124CG338504BenignDyskeratosis_Congenita,_Recessive0.157870.17820.210061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103322610361534634324CG255154Benignnot_specified|Dyskeratosis_Congenita,_Recessive0.459920.368110.452881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103333156531535080931TC338520Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat.....0.453671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103343156681535081574CT338564Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat.....0.655951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103353156721535081694CTC338581Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat.....0.145370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103363156941535082225CT338595Likely_benignAtrial_septal_defect|Hypertrophic_cardiomyopat.....0.278550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103376779561535085201CT667714Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103382575311536937405GT255156Benignnot_specified0.953940.955450.958071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103392575321536946303CG255157Benignnot_specified0.439830.535160.497010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103405618291538545725AC552838Benignnot_provided..0.842051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103415618301538591300AG552839Benignnot_provided..0.802321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10342413711538614525GA49795Benign/Likely_benignLegius_syndrome|not_specified|not_provided0.825840.863750.800121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103435618831538614883TAAGAGCTTGAAGGT552840Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103445618311538616645TC552841Benignnot_provided..0.764781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103455614791538616815GA552842Benignnot_provided..0.908951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103465618321538617282AG552845Benignnot_provided..0.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103475614061538631840TC552846Benignnot_provided..0.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10348414521538631920GA49890BenignLegius_syndrome|not_specified|not_provided0.250270.226540.177921/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10349414531538631930CA49891Benign/Likely_benignLegius_syndrome|not_specified|not_provided0.825460.86370.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103505614071538632148AG552847Benignnot_provided0.906910.974710.909551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103515614801538641891AG552848Benignnot_provided..0.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103525614811538642971GC552849Benignnot_provided..0.799121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103535614821538643009GA552850Benignnot_provided..0.799321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103545614831538643031CT552851Benignnot_provided..0.798921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10355413701538643574TC49794Benign/Likely_benignLegius_syndrome|not_specified|not_provided0.82538.0.799521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103563157531538645521ACTATA331665Likely_benignLegius_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103573157621538646696GA322368Likely_benignLegius_syndrome..0.137580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103583157741538647695GA331693Likely_benignLegius_syndrome..0.164740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103593157751538647811GA340362Likely_benignLegius_syndrome..0.954071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103603157801538648527TA322372Likely_benignLegius_syndrome..0.767371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103613157851538648797AG338686Likely_benignLegius_syndrome..0.157950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103623157891538648975CT322393Likely_benignLegius_syndrome..0.753791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103636746581540226294AG666878Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103643811781540226495TC374053BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.898620.911170.960061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103656746591540231500AG667716Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103666746601540231625AT667720Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103676746611540232001CA668007Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103686723851540232115GGA667659Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103696746381540247689AG668011Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103706834891540253674GA666885Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103716834921540253723CG668013Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103726780931540253743GT667668Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103736746391540253819CT668022Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103746746401540254155AG666888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103756781141540254332TC668026Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103766834941540257615AG667673Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103776746411540259504GA666895Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103786746421540265404TC666897Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103793811791540265799AG374061BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.942670.888310.844450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103806746621540270214AG666909Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103816746631540278192TC667723Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103826746641540282625TC668037Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103836746651540282701TC667729Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103846746671540284523CT667734Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103856746681540284802CT667680Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103866746691540285120AG666912Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103876746701540291140CT668039Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103886746711540300092TC666913Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103893811811540300214GC374485BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.350640.393170.380190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103906834951540312838GA667683Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103913811831540313083GT373397BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.938580.918880.868211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103926746721540314526GA667743Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103933811851540322552GT374064BenignPulmonary_venoocclusive_disease_2,_autosomal_r...0.930310.914430.905551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103946834961540324075GC666915Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103956746731540324837CT667684Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103964028231540328665GA390230Benignnot_specified0.606230.611730.457871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103971337801540477831GA137519Benignnot_specified0.735970.656620.628191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103982576321540488851GA255165Benignnot_specified0.22643.0.19070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
103992576341540500986CT255167Benignnot_specified0.466710.491570.396971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104008030661540509600AG791443BenignMosaic_variegated_aneuploidy_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10401940531540699940TC99955BenignIsovaleryl-CoA_dehydrogenase_deficiency|not_sp...0.595570.683770.647960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104021977401540703609AG194901Benignnot_specified..0.978441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104032585911540705159TC255172Benignnot_specified0.329310.462620.466050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104042585901540708422AG255173Benignnot_specified0.577270.678570.632190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104053158151540711270CG322414BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.507390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104063158201540711933GA331727BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.586860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104073158211540712039CG322429BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.506790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104083158221540712072CT340379BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.506990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104093158231540712348AGA322434BenignIsovaleryl-CoA_dehydrogenase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104103158281540712737TC331736BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.611220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104113158341540713306TC338723BenignIsovaleryl-CoA_dehydrogenase_deficiency..0.507190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104123158371540713490CAC322437BenignIsovaleryl-CoA_dehydrogenase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104136729131540762879AG666917Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104141287691540764549GA134218Benignnot_specified0.145470.103940.153360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104151285861540898643GC134035Benignnot_specified|Primary_Microcephaly,_Recessive0.822180.745650.653751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104161285951540903684AG134044Benignnot_specified|Primary_Microcephaly,_Recessive.0.787840.705271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104171285881540913840GT134037Benignnot_specified|Primary_Microcephaly,_Recessive0.821710.745540.653951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104181285891540914177TC134038Benignnot_specified|Primary_Microcephaly,_Recessive0.391470.39240.351440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104191285901540914772CT134039Benignnot_specified|Primary_Microcephaly,_Recessive0.389890.392840.350840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104201285931540915045TG134042BenignPrimary_autosomal_recessive_microcephaly_4|not...0.39320.392340.351240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104213158541540915190AG322446BenignPrimary_Microcephaly,_Recessive0.869470.758910.705671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104221285961540915894TC134045Benignnot_specified|Primary_Microcephaly,_Recessive0.392790.393480.351840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104231285981540916237AG134047Benignnot_specified|Primary_Microcephaly,_Recessive0.32820.327040.203471|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10424131281540987528GC28167risk_factorBreast_cancer,_susceptibility_to,_in_BRCA1_and.....0.143171|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104256782731542688772AG668072Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10426924061542694944TC98317Benignnot_specified|not_provided0.780680.692790.719450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104276782771542697231CG667772Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104286680591542701203GC668088Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104296782781542701688TC667780Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104306783051542703406TC668100Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104312865941542704105CT270831BenignLimb-girdle_muscular_dystrophy,_type_2A|not_sp.....0.991211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104321306471543044852TC136093Benign/Likely_benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.012240.009460.003990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104333160021543212818CG338921BenignSpinocerebellar_Ataxia,_Dominant..0.538741|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104342628951543256121TC255211Benignnot_specified0.859580.864160.844851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104352628981543352041GA255215Benignnot_specified0.859040.86260.844451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104362551491543499393GA255217Conflicting_interpretations_of_pathogenicitySpherocytosis_type_5|not_specified|Spherocytos...0.016150.01740.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104371653041543893733CT176109Benignnot_specified0.043790.046670.018170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104382270821543903129AG230573Benignnot_specified.0.02814.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104396701151544903285CA666939Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104401946761544907562TC191839BenignSpastic_paraplegia_11,_autosomal_recessive|not...0.010240.009930.004390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10441412711544943757AG49695BenignSpastic_paraplegia_11,_autosomal_recessive|not...0.47930.465950.474841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104423161251545385496AT340597Likely_benignCongenital_hypothyroidism..0.230230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104433161261545385626CT332071Likely_benignCongenital_hypothyroidism..0.103240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104443161291545385895AG322587Likely_benignCongenital_hypothyroidism..0.096850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104453161301545385916CT340603Likely_benignCongenital_hypothyroidism..0.225240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104462603271545386806GC255228Benign/Likely_benignCongenital_hypothyroidism|not_specified0.084280.068350.070490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104472603241545391566AT255230BenignCongenital_hypothyroidism|Thyroid_dyshormonoge...0.991610.99770.991411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104482603231545392075GA255231BenignCongenital_hypothyroidism|Thyroid_dyshormonoge...0.702740.864440.720250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104492603221545393014GC255232Benignnot_specified0.035330.048040.031350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104502603211545397831GA255233Benign/Likely_benignCongenital_hypothyroidism|not_specified0.165870.098180.152961|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104512603201545397889CT255234Benign/Likely_benignCongenital_hypothyroidism|not_specified0.078430.06730.06291|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104522603191545398314GA255235Benign/Likely_benignCongenital_hypothyroidism|not_specified0.078660.067280.06311|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104532603181545398369CT255236Benign/Likely_benignCongenital_hypothyroidism|not_specified0.04965.0.033150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104542603171545398438TC255237Benign/Likely_benignCongenital_hypothyroidism|not_specified0.181030.102070.164940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104552603151545400358CG255239BenignCongenital_hypothyroidism|Thyroid_dyshormonoge...0.85668.0.861421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104562603261545404066GA255241BenignCongenital_hypothyroidism|Thyroid_dyshormonoge...0.743150.862420.759980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104572633021545408414CG255242BenignThyroglobulin_synthesis_defect|not_specified0.864380.962070.858431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104582633031545408699CT255243BenignThyroglobulin_synthesis_defect|not_specified0.702520.841850.682910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104592633041545408710AG255244BenignThyroglobulin_synthesis_defect|not_specified0.93514.0.920331|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104602633051545408933TC255245BenignThyroglobulin_synthesis_defect|not_specified0.753440.876460.764180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104612633061545409271CT255246BenignThyroglobulin_synthesis_defect|not_specified0.705650.851680.684110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104622259571545620985CT227779drug_responsehmg_coa_reductase_inhibitors_response_-_Toxici.....0.587461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104633162001545653367GA340648BenignArginine:glycine_amidinotransferase_deficiency..0.717651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104643162011545653394CT339114Likely_benignArginine:glycine_amidinotransferase_deficiency..0.055310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104653162031545653572CCTG322635BenignArginine:glycine_amidinotransferase_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104663162041545653592AG332157BenignArginine:glycine_amidinotransferase_deficiency..0.617811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104673162061545653707TC340649BenignArginine:glycine_amidinotransferase_deficiency..0.450681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104681291371545654327AG134583BenignArginine:glycine_amidinotransferase_deficiency...0.533940.532930.717651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104696807451545655903TC667783Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104706826701545660758CG667717Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104711291381545661678TA134584BenignArginine:glycine_amidinotransferase_deficiency...0.43496.0.618611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104726840691545668547AC668109Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104736807441545668565TC668114Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104746840681545670316GA668116Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104753162151545670851GA340655BenignArginine:glycine_amidinotransferase_deficiency.0.553330.443891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104766840651545671325AG667726Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104772259511545673029TC227780drug_responsehmg_coa_reductase_inhibitors_response_-_Toxici.....0.450881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104782558741548580713TC255252Benign/Likely_benignBartter_syndrome,_type_1,_antenatal|not_specif...0.997440.999240.99781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104793162851548595192GT339194BenignAntenatal_Bartter_Syndrome..0.735221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104803162901548595366AG332223BenignAntenatal_Bartter_Syndrome..0.696091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104813162941548596166AT332230BenignAntenatal_Bartter_Syndrome..0.820691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104823163101548701029CT332247BenignEctopia_lentis|Marfan_syndrome|Acromicric_dysp.....0.782351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104833163291548701612AC340715BenignEctopia_lentis|Marfan_syndrome|Acromicric_dysp.....0.656951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104843163511548702457CA322767BenignEctopia_lentis|Marfan_syndrome|Acromicric_dysp.....0.919331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104853163541548702873GA339275BenignEctopia_lentis|Marfan_syndrome|Acromicric_dysp.....0.600041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104866779881548703823AG668117Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104876805801548705206TC667796Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104886723141548713996GT666958Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104896805791548720271CT666959Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104901373121548720526GC141015Benignnot_specified0.67840.740380.655951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104916805781548724768CT668138Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104926805771548733625CT667738Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104936805751548737126TTAA667828Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104946805741548739274AG668140Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104956805691548744489CA667847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104962283141548807637CT230590BenignMarfan_syndrome|Thoracic_aortic_aneurysm_and_a....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104976723111548903126AG667816Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104986784851548937339GA668201Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
104996783441549048965GC667824Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105006783291549052669AC666999Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105016698441549060083GT667825Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105026698151549060166CG667883Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105036783281549060725TC667830Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105046783331549083198CT667002Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105051582741549083577CT169172BenignSeckel_syndrome|not_specified|Primary_Microcep...0.412840.397450.344651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105066680651549087934TC667003Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105071367191549090175GA140422Benign/Likely_benignSeckel_syndrome|not_specified|Primary_Microcep...0.00740.053450.086860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105086783321549098016CA667840Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105093164361549103244TC332325BenignSeckel_syndrome|Primary_Microcephaly,_Recessive..0.197091|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1051048071550878630GA19846risk_factorAmyotrophic_lateral_sclerosis-parkinsonism/dem....0.087030.075880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105116779971551200754CT667888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105126779981551200839AC667845Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105136780001551204133CT667849Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105143807681551204364GA373594BenignSpastic_paraplegia_51,_autosomal_recessive|not...0.562790.565290.55910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105151284011551217361TC133850BenignSpastic_paraplegia_51,_autosomal_recessive|not...0.437130.435150.44090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105166780011551217475GA667010Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105176679661551217674AG668205Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105186780021551220989GA667013Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105196679671551223449CG667851Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105206780031551234178AG667852Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105216800641551251122TG667900Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105226679681551260875TA668218Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105236800661551291056AC667859Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105246780041551291576GA668220Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105252556501552643564GA255284BenignGriscelli_syndrome_type_1|not_specified0.146360.154280.148560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105262556391552681573AG255294Benignnot_specified.0.96880.962461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105273164861553806154CG339375Likely_benignAmelogenesis_Imperfecta,_Recessive..0.026961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105283165031553807088CA339378BenignAmelogenesis_Imperfecta,_Recessive..0.527161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105293165371553807399CT322920BenignAmelogenesis_Imperfecta,_Recessive..0.904351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105303165431553807964AC332461BenignAmelogenesis_Imperfecta,_Recessive..0.931711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105313165441553807998CT340846BenignAmelogenesis_Imperfecta,_Recessive..0.904551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105323165631553808842GA340888BenignAmelogenesis_Imperfecta,_Recessive..0.932111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105333165821553815527AAGA340892Uncertain_significanceAmelogenesis_Imperfecta,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105342629981553994493AG255300Benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.56290.579170.639780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105352630031554003091GA255301Benign/Likely_benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.404890.41130.320890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105362630021554008795TC255302Benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.757980.746870.74920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105372630011554008845TC255303Benignnot_specified|Amelogenesis_Imperfecta,_Recessive0.959380.98820.959471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105382630001554008889GAG255304Benign/Likely_benignnot_specified|Amelogenesis_Imperfecta,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105393690921555495151GA353321BenignGriscelli_syndrome..0.266571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105403166111555495698CT339482BenignGriscelli_syndrome..0.265381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105413166121555495774AG339485BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105423166131555495779AT339493BenignGriscelli_syndrome..0.265581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105433166181555495963TC322988BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105443166211555496043TA332533BenignGriscelli_syndrome..0.265381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105453166221555496058AC339506BenignGriscelli_syndrome..0.265381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105463166241555496111TC340922BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105473166271555496278CT340924BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105483166281555496287AT332547BenignGriscelli_syndrome..0.265381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105493166331555496756TC339514BenignGriscelli_syndrome..0.264981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105503166341555496769GT340931BenignGriscelli_syndrome..0.265181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105513166361555496853GA322989BenignGriscelli_syndrome..0.326681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105522594421555497691GA255305Benignnot_specified|Griscelli_syndrome0.284730.200730.264781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105532623151555759193TC255310Benignnot_specified0.451490.583830.528360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105547884491558302887TC714508Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105553166601558834741GT323001BenignHepatic_lipase_deficiency0.57889.0.478041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105563166661558838038CG323007BenignHepatic_lipase_deficiency0.423580.428910.303511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105573166731558853079CA323013BenignHepatic_lipase_deficiency0.945330.968750.93611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105583166741558853109AG339577BenignHepatic_lipase_deficiency0.945480.968750.93591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105597707871562219337GA703274Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105606687671563334688GC667916Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105616840191563340292CT667936Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105626687681563341238GC667868Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105636786221563349564CT667948Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105646840221563351488GA667950Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10565318881563351840CA40548Benign/Likely_benignHypertrophic_cardiomyopathy|Familial_hypertrop...0.635710.673680.705670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10566318891563351873TC40549Benign/Likely_benignHypertrophic_cardiomyopathy|not_specified|Card...0.05090.053310.024161|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105676719481563352092GA667955Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105686781581563357852TG667892Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105696749341564448365CT667895Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105706751891564448460AT668247Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105713167151565255704CT323041BenignSpastic_Paraplegia,_Recessive..0.454070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105726675151565272892CA667960Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105736701171565273399TC667961Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105746701161565273595GA667963Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105753167291565282191GA323048BenignSpastic_Paraplegia,_Recessive..0.539940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105766842651565308583CG667897Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105776842641565315735TG668255Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105786842611565316386TC667041Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105791293081565369395CT134754BenignNemaline_myopathy_6|not_specified|Nemaline_Myo...0.395710.400320.521770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105801293091565369531GT134755Benignnot_specified|Nemaline_Myopathy,_Dominant0.375470.402420.50160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105811293111565369951AG134757BenignNemaline_myopathy_6|not_specified|Nemaline_Myo...0.880460.885290.903751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105821293071565370353TC134753Benignnot_specified|Nemaline_Myopathy,_Dominant0.989640.996090.989421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105833167561565370652TC341058BenignNemaline_Myopathy,_Dominant..0.390780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105843167571565370835CT323067BenignNemaline_Myopathy,_Dominant..0.889381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105853167591565371050AG323072BenignNemaline_Myopathy,_Dominant..0.343250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105863167641565371427AG341062BenignNemaline_Myopathy,_Dominant..0.383190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1058763121565494212AG21351risk_factorLumbar_disc_disease,_susceptibility_to.0.568220.496610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105883168131565947135CA341089Likely_benignCongenital_Stationary_Night_Blindness,_Recessive.0.050220.020370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105893168161565947183GA323100Likely_benignCongenital_Stationary_Night_Blindness,_Recessive.0.128860.026560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10590407041566679601GC49174Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.163740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10591407841566727597GC49254Benignnot_specified0.27315.0.270770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105925613831566728951AC552857Benignnot_provided..0.184110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105935615401566735925CCAG552859Benignnot_provided..0.976841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105945618181566736741CT552861Benignnot_provided..0.319690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105955613841566773975GA552863Benignnot_provided..0.158550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10596445861566782108CTATTC53753BenignNoonan_syndrome|Cardio-facio-cutaneous_syndrom......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105973168411566783261CA332760Likely_benignNoonan_syndrome|Cardio-facio-cutaneous_syndrome..0.183110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105982401761566995716CT242095BenignLoeys-Dietz_syndrome_30.02094..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
105991392161567358478GA142919BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...0.213020.376990.223640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106006723621567430223TC667052Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106016838411567430733TC668281Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106028115431567442596CT799816BenignLoeys-Dietz_syndrome_3...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106031392171567457335AG142920BenignLoeys-Dietz_syndrome|Loeys-Dietz_syndrome_3|Th...0.880.863520.834071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106046723631567457485GC667970Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106056723641567458930CT667978Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106066838441567476735GA667985Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106076838471567476756CT668288Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106086838481567476768CT667905Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106096731391567476952GT668299Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106106731401567476970TC668313Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106113168731567483276CT332783BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.25160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106123168891567483717GA341152Likely_benignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.010580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106133168921567483979GA339754BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.253390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106143168961567484119GA341159BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.25280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106153169021567484297CT339761BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.25280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106163169291567485101GA323180BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.170530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106173169341567485156CT339769BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.25180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106183169471567485667CT332862BenignLoeys-Dietz_syndrome|Thoracic_aortic_aneurysm_.....0.254790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106198031031567528374TG791480BenignKeratosis_palmoplantaris_papulosa...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106203690981568499321TC353327BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.484230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106213169701568499661GA339790BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.404950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106226680981568501710CT667994Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106236680971568506978TG668008Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106245603401568510770AG551393BenignCeroid_lipofuscinosis_neuronal_6..0.476040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106257687171569715488CT778135Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106264457261572105928ACA438998Likely_benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106277916391572122642CT714580Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106283170331572635829AC332971BenignTay-Sachs_disease..0.693291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106293170351572635903CT341250BenignTay-Sachs_disease..0.692891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10630931911572637795TC99098BenignTay-Sachs_disease|not_specified|not_provided0.869540.964140.8771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106316840961572638128TC668211Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10632931891572638892TC99096BenignTay-Sachs_disease|not_specified|not_provided0.870.964330.87641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106331667331572987588GT177512BenignBardet-Biedl_syndrome_1|not_specified0.938550.983280.941891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106342621431573002035GA255348BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.938650.983080.942091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106351667341573023937TC177513Benignnot_specified|not_provided0.956040.987460.960461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10636217341573027478TC34586BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.532720.574320.428910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106373170731573030536GT341280Likely_benignBardet-Biedl_syndrome..0.111220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10638952851573614834TC101184Benignnot_specified|Cardiovascular_phenotype|not_pro...0.87519.0.859631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106392597791573616635TC255358Benignnot_specified|not_provided0.799080.875810.772961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106406835431573617035AG667065Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106411375391573621946GA141242Benignnot_specified|Cardiovascular_phenotype0.073980.085650.053120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106421375371573660505CT141240Benignnot_specified|Cardiovascular_phenotype0.036950.061310.024960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106436835441573661687TG668358Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10644143611574219582GA29400risk_factorExfoliation_syndrome,_susceptibility_to.0.184940.24761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10645143621574222202TC29401risk_factorExfoliation_syndrome,_susceptibility_to..0.712861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106464033291574328116AG390172Benignnot_specified0.499080.522590.551921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106474033301574328141GT390173Benignnot_specified0.346420.35990.351240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106483170851574472199CT341282BenignSyndromic_Microphthalmia,_Recessive..0.532751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106496749541574477216GA668018Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106506749531574477239GA667943Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106515110791575041917CA505375Likely_benignnot_specified..0.629791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106526757981575047426CT656305Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10653940671575183935GA99969BenignCongenital_disorder_of_glycosylation|Congenita...0.381550.368910.213660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10654940691575185670AG99971BenignCongenital_disorder_of_glycosylation|Congenita...0.47120.437470.338260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10655940661575189930AG99968BenignCongenital_disorder_of_glycosylation|Congenita...0.47150.437640.338660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106563171521576508684TA333071BenignGlutaric_aciduria,_type_2..0.974241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106576816721576580527CT667092Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106586838231576580547CT668379Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106596801031576587777CT668384Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106606762331576603928CT668019Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106618109001577310636GC799822BenignPyogenic_arthritis,_pyoderma_gangrenosum_and_acne...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106624402051577324880AG433868BenignPyogenic_arthritis,_pyoderma_gangrenosum_and_a.....0.531751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106636687181577327571TC668044Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106647687191578369959GC703352Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106652265151578401620CT230606Benignnot_specified|not_provided0.02550.024810.011780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106664027891578558584CATC390183Likely_benignnot_specified0.035240.032160.018370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10667174971578882925GA32536drug_responseLung_cancer_susceptibility_2|Smoking_as_a_quan....0.267670.149561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10668175031578894339GA32542drug_responseLung_cancer_susceptibility_2|Smoking_as_a_quan...0.271920.272970.168131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106693804471580450383GA376678Benignnot_specified0.008920.003280.009581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10670924461580450389GA98355BenignHypertyrosinemia|Tyrosinemia_type_I|not_specified0.446330.514060.506790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106712552791580452075TC255370Benignnot_specified0.602650.609830.632990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106722552801580452268GA255371Benignnot_specified0.6081.0.640380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106732552821580460524AG255373Benignnot_specified0.727050.739070.778750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106743172171580478599ACA339979Likely_benignHypertyrosinemia...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106753172191580478645TC339984Likely_benignHypertyrosinemia..0.112620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106763172211580478835CG341367Likely_benignHypertyrosinemia..0.051120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106773172221580478861TA323442Likely_benignHypertyrosinemia..0.112620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106787100561583349637GA726305Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106797730511584527509CG778145Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106806793981585188994TC656313Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106811308391585333953AG136283Benign/Likely_benignGalloway-Mowat_syndrome_1|not_specified0.752770.750130.783951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106823821551585360101TC374366Benignnot_specified0.855640.818870.864821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106836780871585361042TG667974Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106846784411585370597CG668413Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106853793611585382193CA374372Benignnot_specified0.659180.67080.725841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106863821541585383145CG374781Benignnot_specified0.198480.220230.136381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106873846851585383640GA374791Benignnot_specified0.197340.221950.137981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106883837841585383839GA374381Benignnot_specified0.67510.678950.743611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106896830731585384431AG668048Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106903837851585401259CT374427Benignnot_specified0.789120.764420.804711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106913846741585401419TC376712Benignnot_specified0.837720.827640.847841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106926784771585402431GA667134Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106936785411585402795AG668424Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106946785421585403496GA668061Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106953846911585405995TC376720Benignnot_specified0.199550.224190.150360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106966830741585406494AC668431Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106976780881585407564AC668066Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106983846761585411692CT376731Benignnot_specified0.249730.307460.394970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
106992849801589392745TC269217Benignnot_specified0.99010.990960.995611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107002838361589400339AC268073Benignnot_specified0.568950.534810.424120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107013172281589753220CT341371BenignPigmentary_retinal_dystrophy|Newfoundland_rod-.....0.347641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107023172301589753349AC339987BenignPigmentary_retinal_dystrophy|Newfoundland_rod-.....0.915941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107033784791589754954GA374448Benignnot_specified0.318820.337420.256191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107042574841589804043CT255379BenignFanconi_anemia|not_specified|not_provided0.28628.0.259781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107052574861589804111GA255380Benignnot_specified0.475610.416380.449281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107062574901589806710CT255381Benignnot_specified0.348050.381970.338861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107072574911589806721GA255382Benignnot_specified0.370670.380820.338261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107082574811589826496CT255383BenignFanconi_anemia|not_specified0.4680.417310.43931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107092574821589836228GC255384BenignFanconi_anemia|not_specified|not_provided0.28994.0.264981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107104396941589838236GA433550Benignnot_specified|not_provided0.960070.959350.980831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107112574851589838318AT255386Benign/Likely_benignFanconi_anemia|not_specified|not_provided0.082930.094670.05951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107122574871589844688AC255387BenignFanconi_anemia|not_specified0.367210.394380.362621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107132109871589857711AATACAAG208225Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107142574891589858602TC255389Benign/Likely_benignFanconi_anemia|not_specified|POLG-Related_Spec...0.40960.412260.412341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107153173061589859932AAC340026Benign/Likely_benignFanconi_anemia|POLG-Related_Spectrum_Disorders...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107163173211589860350AC323507BenignFanconi_anemia|POLG-Related_Spectrum_Disorders.....0.445891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107176193931589860427CT610810Benign/Likely_benignProgressive_sclerosing_poliodystrophy|not_prov.....0.442291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107181387631589860786AC142466BenignProgressive_sclerosing_poliodystrophy|not_spec...0.435450.420950.419931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107191387541589862341AG142457Benign/Likely_benignFanconi_anemia|Progressive_sclerosing_poliodys....0.374710.298121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107206194921589862366TC610823BenignProgressive_sclerosing_poliodystrophy0.312130.37190.291131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107216193861589864316GGCTAC610835BenignProgressive_sclerosing_poliodystrophy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107226807141589865692TC667155Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107236679711589866286GA667992Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107246193851589867154AG610855BenignProgressive_sclerosing_poliodystrophy0.576860.499090.547321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107256679691589869666GA667163Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107266679511589871499TC668455Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107276807131589873797AG667167Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107286807121589876043CG668132Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107296957361589878391TC685411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107302631451590173734CCAG255399BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.57432.0.492211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10731966551590174789CT102548BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.544720.5270.451081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10732966531590174824CT102546BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.531280.512820.43931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10733966521590174955CT102545BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.559270.541630.451081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10734966511590176073CA102544BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.537310.525460.43831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107351294131590176432TG134859BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.87048.0.794531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107366839801590189758AC668467Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107372631381590190048AG255406BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.618480.569670.511781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10738966491590191827TC102542BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.923010.891220.861421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107391294081590195967CG134854BenignAcrocallosal_syndrome,_Schinzel_type|not_speci...0.92563.0.860221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107401299721590209135GA135418Benignnot_specified0.031130.088230.020770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107411299701590210263AG135416Likely_benignnot_specified0.381060.379660.396370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107421299731590213229GC135419Likely_benignnot_specified0.98938.0.895771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107433691041590321996CT353333BenignJarcho-Levin_syndrome..0.575280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107442547781591312313GA255426Benignnot_specified0.169950.15530.160940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10745923921591312823TC98303BenignBloom_syndrome|not_specified|not_provided0.381930.295590.366610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10746923941591337479GA98305Benign/Likely_benignBloom_syndrome|Hereditary_cancer-predisposing_...0.184560.161130.151160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107472547801591341599TG255428Benignnot_specified0.176450.158910.144770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107482105291591346630CCA208234Likely_benignnot_specified..0.703081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10749923951591346923CA98306Benign/Likely_benignBloom_syndrome|Hereditary_cancer-predisposing_...0.162720.155270.133190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10750923961591354505CT98307Benign/Likely_benignBloom_syndrome|Hereditary_cancer-predisposing_...0.164560.155680.132790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107512105301591358271GGGAA208235Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107521576461591509592TC167495Uncertain_significanceFamilial_cancer_of_breast..0.655551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107531576441591511260AG167493Uncertain_significanceFamilial_cancer_of_breast..0.755391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107541576401591517780GC167489Uncertain_significanceFamilial_cancer_of_breast0.507310.50640.743011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107551576351591523036CT167484Uncertain_significanceFamilial_cancer_of_breast..0.495211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107561576321591525197CT167481Uncertain_significanceFamilial_cancer_of_breast0.367150.308370.470651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107571576301591527451TA167479Uncertain_significanceFamilial_cancer_of_breast..0.422131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107581576311591530820AG167480Uncertain_significanceFamilial_cancer_of_breast..0.484631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107592610411591543761CT255432BenignArthrogryposis,_renal_dysfunction,_and_cholest...0.56127.0.767771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107602610371591548601GA255435BenignArthrogryposis_with_renal_dysfunction_and_chol...0.09483.0.208071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107613174361591565804AG341554BenignArthrogryposis_with_renal_dysfunction_and_chol.....0.756591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107626694021593470217GGTATGTT667173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107636680751593472582CT668143Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107646680761593485456CG668478Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107656680771593489747CT668028Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107666802171593497038GA668480Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107676680781593499385AG668158Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107682577061593510603AG255443BenignHistory_of_neurodevelopmental_disorder|not_spe...0.765590.841940.826481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107696680791593510994GT668166Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107702577081593521604AG255445BenignHistory_of_neurodevelopmental_disorder|not_spe...0.747650.835250.809111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107716789261593522312GA667191Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107726802201593524867GA667193Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107736789281593527794AT668498Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107746680801593527988GC668173Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107756680811593528473TC668180Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107762577091593536197CT255446BenignHistory_of_neurodevelopmental_disorder|not_spe...0.24850.226580.193491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107776789301593540089TC668187Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107786789321593543531AT667200Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107796680821593545831GT668508Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107806680831593547575TC667204Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107816802211593555717AG668063Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107822577131593567864AC255450BenignHistory_of_neurodevelopmental_disorder|not_spe...0.314680.294620.18650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107832849321599456253TC269169Benignnot_specified0.469430.577520.511180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107841990421599459278CT196202Benignnot_specified|not_provided0.007240.007290.004790|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107852822151599459314GT266452Conflicting_interpretations_of_pathogenicityInsulin-like_growth_factor_1_resistance_to|not...0.003540.003610.0020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107861946101599478225GA191773BenignInsulin-like_growth_factor_1_resistance_to|not...0.402680.397190.335661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107873175001599501929GAG340150BenignInsulin-like_growth_factor_1_resistance_to...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107883175351599503199GGTG323741BenignInsulin-like_growth_factor_1_resistance_to...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107893175391599503521CCTT340170BenignInsulin-like_growth_factor_1_resistance_to...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107903175461599503800GT341605BenignInsulin-like_growth_factor_1_resistance_to..0.483231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107913175701599504671CT341626BenignInsulin-like_growth_factor_1_resistance_to..0.590451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
107923176371599506942CT340252BenignInsulin-like_growth_factor_1_resistance_to..0.989421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079331516315100512594AC323871BenignWeill-Marchesani_syndrome_4..0.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079431517815100512878CT340296Likely_benignWeill-Marchesani_syndrome_4..0.014780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079531519015100513318AC333587BenignWeill-Marchesani_syndrome_4..0.584470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079631519215100513364GA323891BenignWeill-Marchesani_syndrome_4..0.581670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079731519315100513372ACCTTA341712BenignWeill-Marchesani_syndrome_4...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079831519615100513524TC341714BenignWeill-Marchesani_syndrome_4..0.588060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1079931519715100513529CT333598BenignWeill-Marchesani_syndrome_4..0.587860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080031520115100513587CTGGGCTC340315Conflicting_interpretations_of_pathogenicityWeill-Marchesani_syndrome_4...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080131520715100513707AG341719BenignWeill-Marchesani_syndrome_4..0.536740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080231520815100513722TC340319BenignWeill-Marchesani_syndrome_4..0.573880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080331521015100513725CG333602BenignWeill-Marchesani_syndrome_4..0.577680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080431522115100514040CG323900BenignWeill-Marchesani_syndrome_4..0.586460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080531522215100514063CT341724BenignWeill-Marchesani_syndrome_4..0.583670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080631522415100514097GA323905BenignWeill-Marchesani_syndrome_4..0.660940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080731522515100514109TG340341BenignWeill-Marchesani_syndrome_4..0.593850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080831523015100514178TG323910BenignWeill-Marchesani_syndrome_4..0.588460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1080931523415100514194CCAGAATAAAGCCTTT340349BenignWeill-Marchesani_syndrome_4..0.584670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081031523615100514291AG323914BenignWeill-Marchesani_syndrome_4..0.586660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081131524315100514494TC340365BenignWeill-Marchesani_syndrome_4..0.590060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081231524515100514525CT323916BenignWeill-Marchesani_syndrome_4..0.338460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081331524615100514561GC323920BenignWeill-Marchesani_syndrome_40.64670.62819.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081431524815100514614TC341746BenignWeill-Marchesani_syndrome_40.71444.0.679510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081531528615100672237TG340003BenignWeill-Marchesani_syndrome_40.99839.0.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081631530415100801698GA338092BenignWeill-Marchesani_syndrome_40.6740.682550.692090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081731532815100882122GCG340037BenignWeill-Marchesani_syndrome_4...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081858779315101109677CA579916BenignHistory_of_neurodevelopmental_disorder0.406120.384990.31151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1081958779515101109794CG579918BenignHistory_of_neurodevelopmental_disorder0.406120.384840.31151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082058779215101109818GA580207BenignHistory_of_neurodevelopmental_disorder0.502150.505610.456271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082158779415101109893CA580213BenignHistory_of_neurodevelopmental_disorder0.406120.384750.31171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082258779115101110265TA579973BenignHistory_of_neurodevelopmental_disorder0.40557.0.31151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082358779915101110302CG579971BenignHistory_of_neurodevelopmental_disorder0.33890.343840.254791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082458778215101113950AG579925BenignHistory_of_neurodevelopmental_disorder0.419420.388530.327481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082558779015101114418GA579990BenignHistory_of_neurodevelopmental_disorder0.399210.386740.31431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082658778515101120963TC579999BenignHistory_of_neurodevelopmental_disorder0.388050.383580.298521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082768387015101425703TC667937Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082867715715101436307CT667941Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1082925676115101445900GA255126Benignnot_specified|not_provided0.147090.204560.213460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083067715915101448571TA667669Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083167205315101717680GT656277Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083243910816223706AG432860Benignnot_specified..0.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083340292116223735AG390135Benignnot_specified..0.933911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083440240516396264AG390297Benignnot_specified0.714130.621840.638980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083525716916774520CT255863Benignnot_specified0.421820.607970.589660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083612863116774692AG134080Benignnot_specified0.535940.603870.700880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083725716516775947GC255867Benignnot_specified0.20317.0.159740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083825716216775954CCAA255869Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1083976873516817016AGCCAGGGAGTCCCTGA778218Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1084096005161252369CT101900BenignEpilepsy,_childhood_absence_6|not_specified|no...0.22353.0.43991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1084196008161254369CT38427Benignnot_specified|not_provided0.0738.0.046730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1084296011161260481TC101905BenignEpilepsy,_childhood_absence_6|not_specified|no...0.847040.860150.919931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10843585639161260636GA577430Benignnot_provided0.047880.060610.033550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10844585642161261219AG577432Benignnot_provided0.643210.643120.709670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10845585643161261222AG577433Benignnot_provided0.643530.643230.709670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10846585644161261282TC577434Benignnot_provided0.847970.859690.917731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10847585650161268013GC577440Benignnot_provided0.043250.079910.032750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10848585651161268376GA577441Benignnot_provided0.041620.097940.031750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10849585653161268494CT577443Benignnot_provided0.651010.622430.699081|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10850518260161269029TC508885BenignEpilepsy,_childhood_absence_6|not_provided0.660440.610360.691690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10851585654161269095CT577444Benignnot_provided0.038920.090780.032750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1085296016161270162GA101910BenignEpilepsy,_childhood_absence_6|not_specified|no...0.646830.662780.700680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1085396018161270349TC101912BenignEpilepsy,_childhood_absence_6|not_specified|no...0.859670.858270.913941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10854317904161495006CG341950BenignOsteopetrosis..0.661340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10855317912161495243TG333780BenignOsteopetrosis..0.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10856317913161495300GA340566BenignOsteopetrosis..0.469650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10857317926161495897GA333791BenignOsteopetrosis..0.587060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10858257949161503879TA255466BenignOsteopetrosis|not_specified0.50931.0.555910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10859317981161560886AG324309BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,.....0.389780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10860516182161573810AG505581BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.963910.964540.984431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10861129260161574863GA134706BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.188110.198520.231030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10862129259161608082AG134705BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.307430.256330.347440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10863129258161614097AG134704BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.422990.390870.505190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10864318223161657284CG334063BenignRenal_dysplasia,_retinal_pigmentary_dystrophy,...0.438450.400350.514980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10865318265161842209AG334129BenignAcid-labile_subunit_deficiency0.81986.0.784150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10866318273161843672TC324568BenignAcid-labile_subunit_deficiency0.717620.699910.668730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10867671762162033941CA668649Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10868671621162033970CG668341Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10869671622162034137CT668167Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10870676125162035762TC668170Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10871676126162035784CT668660Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087249958162105335CG59120not_providedTuberous_sclerosis_syndrome..0.153360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087349957162105400CT59119BenignNeoplasm_of_brain|Hereditary_cancer-predisposi...0.128420.087110.092050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10874675047162110571CG668366Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087549143162111779TC58305Benignnot_provided..0.610620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087649695162115481CT58857BenignTuberous_sclerosis_syndrome|not_specified|not_...0.073870.071240.039340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10877677145162115819AG668375Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087865157162120402TC76088BenignTuberous_sclerosis_syndrome|not_provided..0.393371|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1087965253162136624TC76185BenignTuberous_sclerosis_syndrome|not_provided..0.241210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1088049431162138218AC58593BenignTuberous_sclerosis_syndrome|Tuberous_sclerosis...0.328490.206720.256990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1088149895162138269TC59057BenignHereditary_cancer-predisposing_syndrome|Tubero...0.332460.188280.276360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1088249420162138398CT58582BenignTuberous_sclerosis_syndrome|not_specified|not_...0.201460.110180.167730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1088349976162138422CG59138BenignTuberous_sclerosis_syndrome|Tuberous_sclerosis...0.23130.120960.200880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10884256921162140010AG255507BenignPolycystic_kidney_disease,_adult_type|not_spec...0.33032.0.277960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10885256917162140454TC255511BenignPolycystic_kidney_disease,_adult_type|not_spec...0.3261.0.276360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10886256913162140680TC255514BenignPolycystic_kidney_disease,_adult_type|not_spec...0.311040.190940.2520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10887257034162152651TC255553BenignPolycystic_kidney_disease,_adult_type|not_spec...0.278430.16460.220650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10888440071162154478AG433189BenignPolycystic_kidney_disease,_adult_type..0.632591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10889257004162156021AG255582BenignPolycystic_kidney_disease,_adult_type|not_spec.....0.177720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10890256997162156850AG255589BenignPolycystic_kidney_disease,_adult_type|not_spec....0.187490.242610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10891256968162160503TG255617BenignPolycystic_kidney_disease,_adult_type|not_spec...0.28264.0.221650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10892256944162162839TC255640BenignPolycystic_kidney_disease,_adult_type|not_spec...0.041330.037380.019970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10893256942162162887AG255642BenignPolycystic_kidney_disease,_adult_type|not_spec...0.225760.110470.182910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10894256929162165630TC255655BenignPolycystic_kidney_disease,_adult_type|not_spec...0.227830.188330.226640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10895162672162331430AG175790Benignnot_specified0.869420.919210.900960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10896775366162498949GT703568Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10897318648162552650GA341030Uncertain_significanceMyoclonic_epilepsy,_familial_infantile..0.006990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10898318677162553869AT342579BenignMyoclonic_epilepsy,_familial_infantile..0.455470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10899318688162554553GA342594Uncertain_significanceMyoclonic_epilepsy,_familial_infantile..0.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10900768742163142911CG703649Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10901319086163292085CA341340Likely_benignFamilial_Mediterranean_fever..0.650960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10902319088163292304CCAGT325218Likely_benignFamilial_Mediterranean_fever..0.649960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10903319092163292398AG325223Likely_benignFamilial_Mediterranean_fever..0.694290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10904319101163292672CAAAC334887Likely_benignFamilial_Mediterranean_fever...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10905224065163292874CT225792Likely_benignFamilial_Mediterranean_fever..0.646170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10906224064163292896CT225793Likely_benignFamilial_Mediterranean_fever..0.639780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1090736505163293888CT45167BenignFamilial_Mediterranean_fever|not_specified0.42358.0.353630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10908439880163293922AT433684Benignnot_specified0.40565.0.31130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10909676934163294678GA668336Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10910667833163294931AC667523Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10911439879163296429GA433683Benignnot_specified..0.454070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10912439878163296616CT433682Benignnot_specified|not_provided0.43999.0.454070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091336503163297073AG45165Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.584190.610430.663140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10914255615163297175TC255706Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.568570.60570.650560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091536500163297181CT45162Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.566570.602670.638980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10916667831163298642GA668504Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091736515163299749GA45177Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.595660.628350.69070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091836512163304463CT45174Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.180320.25550.135980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1091936511163304573GT45173Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.466970.490740.386380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1092036510163304654TC45172Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.46637.0.386580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1092136509163304762AG45171Benign/Likely_benignFamilial_Mediterranean_fever|not_specified0.476310.438180.389380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10922260710163724465GC255737Benignnot_specified|not_provided0.33169.0.392770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10923260709163726160AG255738Benignnot_specified0.92420.93030.967051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1092496224164386814TC102118BenignNephronophthisis|not_specified|not_provided0.974990.979620.991211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10925319241164388139GA341474BenignNephronophthisis..0.153551/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10926319394164847169GA341579BenignKohlschutter's_syndrome..0.395770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10927319396164847317CT325480BenignKohlschutter's_syndrome..0.397960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10928319413164852892GC335133BenignKohlschutter's_syndrome..0.388980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10929260705165075542GA255780Benignnot_specified0.717250.701670.792531|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10930260704165075633GA255781Benignnot_specified0.27640.300980.200880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10931260703165077395TGGGAGGAT255782Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10932260708165078841TC255783Benignnot_specified0.99969.0.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10933260707165080523CT255784Benignnot_specified0.23330.228920.18510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10934260706165083483TC255785Benignnot_specified0.68290.710190.730230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1093595935165122072GGGTCT101831BenignCongenital_disorder_of_glycosylation_type_1K|n......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1093695936165123270CT101832Benignnot_specified0.24142.0.176720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10937803210166533549CA791630BenignIdiopathic_generalized_epilepsy...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10938320841168839954AG344189BenignGamma-aminobutyric_acid_transaminase_deficienc...0.514010.584130.50080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10939320843168841960TC336367BenignGamma-aminobutyric_acid_transaminase_deficienc...0.475760.570410.469450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10940321071168858580TA344196BenignGamma-aminobutyric_acid_transaminase_deficiency0.859010.898540.825881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10941321082168868776CA326555BenignGamma-aminobutyric_acid_transaminase_deficienc...0.322610.385550.317490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10942321094168875529GT342608BenignGamma-aminobutyric_acid_transaminase_deficiency..0.37381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10943321104168875799GA336390BenignGamma-aminobutyric_acid_transaminase_deficiency..0.371211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10944321107168876202CG326569BenignGamma-aminobutyric_acid_transaminase_deficiency..0.384981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10945321109168876277GC326573BenignGamma-aminobutyric_acid_transaminase_deficiency..0.606431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10946321111168876418GA342626BenignGamma-aminobutyric_acid_transaminase_deficiency..0.550321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10947321126168876880TA344235BenignGamma-aminobutyric_acid_transaminase_deficiency..0.386181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10948321134168877220TC342650BenignGamma-aminobutyric_acid_transaminase_deficiency..0.908151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10949321139168877401GA344245BenignGamma-aminobutyric_acid_transaminase_deficiency..0.606831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10950321145168877854CG342652BenignGamma-aminobutyric_acid_transaminase_deficiency..0.605431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10951495797168904877TTATG487926Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1095292802168905054TC98709BenignCongenital_disorder_of_glycosylation,_type_Ia|...0.437420.465360.381191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10953321232168941934CA326761Likely_benignCongenital_disorder_of_glycosylation..0.396171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10954321248168942473GC326771BenignCongenital_disorder_of_glycosylation..0.920931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10955321471169848471TG336832BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.75061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10956321501169850397AG336853BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.423320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10957321514169850857GC336862BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.416330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10958321515169850878TC344757BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.417330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10959321519169851122CT343130BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.367610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10960321520169851188GA343131BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10961321565169854389CG343154BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.3740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10962321583169855794GA336920BenignEpilepsy,_focal,_with_speech_disorder_and_with.....0.268170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10963681804169862556GT668744Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10964129192169916204CG134638BenignHistory_of_neurodevelopmental_disorder|Epileps...0.351090.264820.281150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10965675086169923179GA669016Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10966674884169935066TG668617Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10967681643169943432GT667736Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10968129190169943666CT134636BenignHistory_of_neurodevelopmental_disorder|Epileps...0.296520.25420.225840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10969681642169943995AG668765Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
10970683415169984523CT667740Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109712580931610631945GA255451Benignnot_specified0.42335.0.419730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109724025381610995933AG390078BenignBare_lymphocyte_syndrome_2|not_specified0.983150.995860.987221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109733177171611002904GA323996BenignBare_lymphocyte_syndrome_2|not_specified0.634680.683960.663141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109743177181611002927AG323999BenignBare_lymphocyte_syndrome_2|not_specified0.919890.978720.928711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109753177251611016045CT324017Likely_benignBare_lymphocyte_syndrome_20.098050.100880.104830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109763177271611017728GC341801Likely_benignBare_lymphocyte_syndrome_2..0.071891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109773177471611018622TC341808BenignBare_lymphocyte_syndrome_2..0.691691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109786840911611650057TC668090Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109796830581611650325GA668536Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109806840771611650887CT667277Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109812596861614026007GA255455BenignXeroderma_pigmentosum|not_specified0.98461.0.946491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109823178451614043912GA333761Uncertain_significanceXeroderma_pigmentosum..0.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109833178711614045643GA324203Uncertain_significanceXeroderma_pigmentosum..0.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109846723591615813945CT667306Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109851383421615818141AC142045Benign/Likely_benignAortic_aneurysm,_familial_thoracic_4|Thoracic_...0.45898.0.410140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109863181291615818991TAT333972Uncertain_significanceLissencephaly,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109871383341615820863CT142037Benign/Likely_benignAortic_aneurysm,_familial_thoracic_4|Thoracic_...0.206790.245690.203870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109886723571615831212GA667315Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109896806741615832141CG667318Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109906709971615838940GC668285Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109911383301615839034GA142033Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.26320.297510.253591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109926785151615839328CG668287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109936723561615843899GA668296BenignAortic_aneurysm,_familial_thoracic_4|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109946723551615850004TC668301Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109951383271615850204AG142030Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.4990.44370.548121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109961383711615853596CG142074Benign/Likely_benignThoracic_aortic_aneurysm_and_aortic_dissection...0.473220.416390.534341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109976806571615870309AG668315Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109986806531615916861AC668329Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
109996806481615932374CT667347Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110001268521616169566CT132366Uncertain_significanceFamilial_cancer_of_breast..0.56111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110011268601616177687GA132374Uncertain_significanceFamilial_cancer_of_breast..0.803711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110024333691616243973CT426779BenignPseudoxanthoma_elasticum0.056940.070130.066290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110034332801616271409GA426928BenignPseudoxanthoma_elasticum0.188160.139530.151561|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110044332471616278863GT426987BenignPseudoxanthoma_elasticum0.453060.415180.332670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110054332461616278869GC426988BenignPseudoxanthoma_elasticum0.453060.415150.332670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110064332441616281007AG426990BenignPseudoxanthoma_elasticum0.463980.426120.339460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110074333831616291858GC427023BenignPseudoxanthoma_elasticum0.67372.0.731430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110084333821616291871GC427024BenignPseudoxanthoma_elasticum0.73811.0.787940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110094332281616291971CT427028BenignPseudoxanthoma_elasticum0.306030.306720.232230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110101431171616291983AG152835Likely_benignnot_provided0.31330.33840.282750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110111431201616302586TC152838Conflicting_interpretations_of_pathogenicityPseudoxanthoma_elasticum|not_provided.0.05976.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110126694741619078630AT668335Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110136835721619079095TG668160Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110146835741619083035GA668645Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110156835751619083221AG668337Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110166835761619083549CT667359Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110176785281619085298CT656341Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110186697951619086764CCGCCT668165Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110196835821619089098GA668340Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110204025121619547747CG390286Benignnot_specified0.927580.868140.828081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110213182991620362106AG342241Benignnot_specified|Uromodulin-associated_kidney_dis...0.031060.026840.040140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110224027241621078693TG390162Benignnot_specified0.40917.0.444490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11023442411621272591GC53408Benignnot_specified0.53147.0.50260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11024442371621286927AG53404Benignnot_specified0.287510.234280.202880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11025479541621689879TA57118Benignnot_specified0.03370.062360.103040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110266827391621690559GA668216Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11027479521621730449CT57116Benignnot_specified0.64110.631970.576681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110283183431623197545CG334228BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.20359.0.196890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110293183441623197562AG324670BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.203940.23780.196890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110301651721623200761TC176148BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.269430.302280.239021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110311651731623200848TC176006BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.269590.301770.239221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110321651741623200923CT176149BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.064110.060860.044530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110331651761623221183AG176008BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.755120.810620.783750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110343183671623227362AG334266BenignPseudohypoaldosteronism_type_1_autosomal_reces.....0.339460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110353183711623227449TC334268BenignPseudohypoaldosteronism_type_1_autosomal_reces.....0.339460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110363183731623227579TC340920BenignPseudohypoaldosteronism_type_1_autosomal_reces.....0.338860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110371651671623360199TC176011BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.662310.635470.788541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110381651701623391401GA176014BenignPseudohypoaldosteronism_type_1_autosomal_reces...0.01978.0.041330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110393185161623534098GA340995BenignCombined_oxidative_phosphorylation_deficiency..0.786941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110403185181623534249GC342493BenignCombined_oxidative_phosphorylation_deficiency..0.786941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110413185321623535156CTC324778BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110423185361623535307CTCTGTC334395BenignCombined_oxidative_phosphorylation_deficiency...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110433185391623535680AC260348BenignCombined_oxidative_phosphorylation_deficiency0.850070.830360.802121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110446805581623536366TC667432Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110456716461623536531CT667437Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110461371861623536684TC140889Benignnot_specified|Combined_oxidative_phosphorylati...0.849620.830630.801921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110476715521623540798CT668245Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110481371851623541223GA140888Benignnot_specified|Combined_oxidative_phosphorylati...0.736820.755670.673121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110496805571623544295GA668733Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110501371831623546561GC140886Benignnot_specified|Combined_oxidative_phosphorylati...0.852490.830810.802721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110516761181623555726CT668436Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110521371911623563501CT140894Benignnot_specified|Combined_oxidative_phosphorylati...0.734340.756060.674721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110531267141623625463AT132224Likely_benignFamilial_cancer_of_breast.0.997470.996811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110546799131628489342GA668458Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110556687881628495752CT668267Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110566687861628499659AT668740Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110573187381628853996AC341082BenignCombined_oxidative_phosphorylation_deficiency..0.261580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110586675061628854769AG668291Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110593187471628855727AG341086BenignCombined_oxidative_phosphorylation_deficiency0.344620.345440.261580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110603187601628857645AG342632BenignCombined_oxidative_phosphorylation_deficiency..0.349240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110616711981628889486CA668464Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110626780781628890131CA668298Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110636780791628893532AG667497Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110646780801628893571TC668302Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110656780811628896015CT667509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11066965451628898793TC102439BenignBrody_myopathy|not_specified|not_provided0.403650.348190.338860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110676780821628906084GC668484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110686780831628913787TC668489Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110696780941628915217GA668502Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110706782011628915433AC667510Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11071965391628915527GA102433BenignBrody_myopathy|not_specified|not_provided0.751420.706010.818690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110723188031628944396CG341124BenignCommon_variable_immunodeficiency_3|not_specifi...0.769360.729320.830270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110733188051628944700GT324967BenignCommon_Variable_Immune_Deficiency,_Recessive0.27536.0.18710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110743188211628950574AGTA324989Uncertain_significanceCommon_Variable_Immune_Deficiency,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110758032481629814234GA791581BenignSpondyloepimetaphyseal_dysplasia_with_joint_la......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110761675441629825126TC177989Benignnot_specified0.990760.997960.991811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110777698981630021402CT703631Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110782594501630098189GTGAG255674Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110795126921630119525CA505610Benignnot_specified0.845620.882790.895171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110802600181630718873CT255677Benignnot_specified0.155840.154430.083270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110811958891630734963CA193050Benignnot_specified0.976070.993890.981231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110821600341630735038CG169197Benign/Likely_benignFloating-Harbor_syndrome|not_specified0.016160.013460.006590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110833189271630759716TC341225BenignGlycogen_phosphorylase_kinase_deficiency..0.981431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110842557821630762640CT255685Benignnot_specified0.958440.989450.967451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110853189681630914626TC341249Likely_benignDilated_Cardiomyopathy,_Dominant..0.588661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110862618731630999142AG255691Benignnot_specified0.52271.0.493411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110872618701630999462TC255696Benignnot_specified0.52440.603290.492811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110882259751631103796AG227784drug_responsewarfarin_response_-_Dosage|not_provided..0.609630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110892260261631104509CG227785drug_responsenot_specified|warfarin_response_-_Dosage..0.416330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11090373441631104878GA38302drug_responseWarfarin_response|not_specified|acenocoumarol_.....0.355830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110912259601631105353GA227786drug_responsewarfarin_response_-_Dosage|not_provided..0.093650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1109222111631107689CT17250Likely_benign,_otherWarfarin_response|not_specified|not_provided..0.355630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110932260151631110981GA227782drug_responsewarfarin_response_-_Dosage..0.525560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110941285211631121793GA133970Benignnot_specified0.302910.380310.359230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110953189791631191482AG334778BenignAmyotrophic_Lateral_Sclerosis,_Dominant0.943280.98460.93911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110962595941631193942CA255698BenignAmyotrophic_lateral_sclerosis_type_6|not_speci...0.21672.0.278950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110973190041631203529GC325136BenignAmyotrophic_Lateral_Sclerosis,_Dominant.0.422680.281750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110983190171631204235TC334828BenignAmyotrophic_Lateral_Sclerosis,_Dominant.0.999440.991011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
110997037891646708574TAT695697Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111002603861646723598TC255745BenignMeier-Gorlin_syndrome|not_specified|Parkinson_...0.341230.426380.194091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111012571731647684686TATTAT255752Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111023193851647735030GA335120BenignGlycogen_phosphorylase_kinase_deficiency..0.996411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111032605291649670390AG255766Benignnot_specified0.210070.216530.204870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111042605381649672520AG255777Benignnot_specified0.570020.479610.578671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111053194291650733859CG341616BenignBlau_syndrome|Crohn_disease|not_specified0.37088.0.246611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111063194501650745583TG341634BenignBlau_syndrome|Crohn_disease|not_specified0.33580.330220.216051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11107978691650757276GA103761Benign/Likely_benignInflammatory_bowel_disease_1|Psoriatic_arthrit...0.069020.061120.033350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111083194821650766127AC325520BenignBlau_syndrome|Crohn_disease..0.358231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111093194921650766886GA335201BenignBlau_syndrome|Crohn_disease..0.352240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111103195861651170434CAC335255BenignTownes-Brocks_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111112588711651171175CT255786BenignTownes-Brocks_syndrome_1|not_specified0.988380.996480.986821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111126675791651171670CT668339Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111132588661651173559GA255790BenignTownes-Brocks_syndrome_1|not_specified0.49192.0.538740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111143196241653634295CT343259Likely_benignNephronophthisis|Joubert_syndrome|Meckel-Grube.....0.476640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111153196341653635251AC341775Likely_benignNephronophthisis|Joubert_syndrome|Meckel-Grube.....0.477040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111163196451653635933AT335300Likely_benignNephronophthisis|Joubert_syndrome|Meckel-Grube.....0.477040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111176719101653636409CT668775Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111183196481653644975GGA325647Uncertain_significanceNephronophthisis|Joubert_syndrome|Meckel-Grube......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11119956921653656135GC101589Benign/Likely_benignNephronophthisis|Joubert_syndrome|Meckel-Grube....0.225520.136981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111201262761653672355CT131808Benignnot_specified|not_provided0.40360.35750.484631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111212178241653800954TC214481risk_factorOBESITY_(BMIQ14),_SUSCEPTIBILITY_TO..0.228630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111223197501655519535GC341847BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.256770.301280.200080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111233197561655523705TC335387BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.799320.837830.799920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111243197611655527113GA343361BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.35919.0.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111253197661655536687AG325751BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.443210.484090.487620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111263197681655536727CT335392BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.366420.395040.303910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111273197691655536763CG335396Likely_benignMulticentric_Osteolysis-Nodulosis-Arthropathy_...0.08102.0.037140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111283197761655539614AC343362BenignMulticentric_Osteolysis-Nodulosis-Arthropathy_.....0.298920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111293197891655690425CT325781Likely_benignOrthostatic_intolerance..0.7530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111303198031655731835GA341872Likely_benignOrthostatic_intolerance0.25808.0.233430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111313198051655731946GA335414Likely_benignOrthostatic_intolerance0.257540.303740.229430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111323198201655736656TC335430Uncertain_significanceOrthostatic_intolerance...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111333198211655736659CCA335436Likely_benignOrthostatic_intolerance...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111343198421655737656GA341888Likely_benignOrthostatic_intolerance..0.893571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111355859421656368689CT577548BenignHistory_of_neurodevelopmental_disorder|not_pro...0.397660.438360.49740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111362619811656545175TC255825BenignBardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...0.195450.209240.263580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111372852611656548501CT269498BenignBardet-Biedl_syndrome_2|not_specified|not_prov....0.993770.996411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111383691141656554016AG353343BenignBardet-Biedl_syndrome..0.997011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111395048861656904587CG497694BenignFamilial_hypokalemia-hypomagnesemia|not_specified0.973220.975570.990621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111402558801656917953TC255835BenignFamilial_hypokalemia-hypomagnesemia|not_specified0.474920.458970.570690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111413199171656936319CT341943Benign/Likely_benignFamilial_hypokalemia-hypomagnesemia0.034470.030570.052320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111422558911656938387CT255845BenignFamilial_hypokalemia-hypomagnesemia|not_specified0.348260.287170.339660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111433199241656947522AG325868BenignFamilial_hypokalemia-hypomagnesemia..0.591250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111443199301656947721CT341960BenignFamilial_hypokalemia-hypomagnesemia..0.540940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111453199381656947981GC343483BenignFamilial_hypokalemia-hypomagnesemia..0.591250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111463199421656948248CT325884BenignFamilial_hypokalemia-hypomagnesemia..0.56130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111473199511656948841CT325898BenignFamilial_hypokalemia-hypomagnesemia..0.539940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111483199571656949168AG325902BenignFamilial_hypokalemia-hypomagnesemia..0.56190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111493199841657007353CT343503BenignHyperalphalipoproteinemia_10.076720.053550.054710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11150175251657016092GA32564BenignHyperalphalipoproteinemia_1|High_density_lipop....0.616480.533950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111513200001657017662GA325942BenignHyperalphalipoproteinemia_1..0.155350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111523691161657017762CG353345BenignHyperalphalipoproteinemia_1..0.766171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111536835851657481670TC668794Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111546835871657494178TC668355Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111553200141657494992CA325945Likely_benignCoenzyme_Q10_deficiency,_primary..0.116411/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111563200151657495026TC325947BenignCoenzyme_Q10_deficiency,_primary..0.992611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111576798701657673122CT667748Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111586833131657689028CT669039Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111591374931657689385CG141196Benign/Likely_benignnot_specified|not_provided0.60519.0.720851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111601586401657689805AC169286Benignnot_specified|not_provided0.208830.199780.113020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111611586411657689883TC169287Benignnot_specified|not_provided0.784470.756580.816691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111621586151657691265CA169291Benignnot_specified0.36696.0.290940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111636833151657693055CT668636Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111646817811657693247GA668790Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111652598651657697532TG255850Benignnot_specified0.766390.756440.847840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111667123241657775651CT726711Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111673200271657916776TG335611Likely_benignRetinitis_Pigmentosa,_Recessive..0.085661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111683200281657916835AG342033Likely_benignRetinitis_Pigmentosa,_Recessive..0.109631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111693200461657917758AG342038Likely_benignRetinitis_Pigmentosa,_Recessive..0.089461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111703200531657918035TC335659Likely_benignRetinitis_Pigmentosa,_Recessive0.104360.0720.085461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111713200591657921752AG326000Benign/Likely_benignRetinitis_pigmentosa_45|Retinitis_Pigmentosa,_...0.367970.310640.370211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111721944921657974240GA191655Benign/Likely_benignRetinitis_pigmentosa_45|not_specified|Retiniti...0.438730.543040.400760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111733201091657996932GA335733Benign/Likely_benignRetinitis_pigmentosa_45|Retinitis_Pigmentosa,_...0.366270.430420.31411/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111743201101657996960CT342070BenignRetinitis_pigmentosa_45|Retinitis_Pigmentosa,_...0.75496.0.7521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111754025491658577315GAG390165Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111763202061668678638CCAA,CA343681BenignEEM_syndrome...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
111773202121668678746AG343691BenignEEM_syndrome..0.170930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111786771621668712217TC668527Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111793202271668712730CA342177BenignEEM_syndrome0.18991.0.139780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111803202291668713730GA326126BenignEEM_syndrome|not_provided0.64020.5940.607830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111813202301668713823CA343710BenignEEM_syndrome|not_provided0.640270.593960.607830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111823202431668721470TC342183BenignEEM_syndrome|not_provided0.636040.588110.597440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111833202501668725783GA342187BenignEEM_syndrome|not_provided0.625420.578560.574480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111843202581668732457GT342193BenignEEM_syndrome..0.81090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111851366921668771372CT140395BenignHereditary_cancer-predisposing_syndrome|Heredi...0.860330.811140.763380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111866768871668847576AG668405Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111871427701668857441TC152484BenignHereditary_cancer-predisposing_syndrome|Heredi...0.716140.654810.718651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111883202811668867991CT326168BenignHereditary_diffuse_gastric_cancer..0.103040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111893691221668869449AG353351BenignHereditary_diffuse_gastric_cancer..0.994811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111902259711669143577AG227789drug_responseanthracyclines_and_related_substances_response...0.32641.0.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111916761091669365123GT668529Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11192962201669373414TC102114Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.32437.0.257590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11193168091669745145GA31848drug_responseLung_cancer|Benzene_toxicity,_susceptibility_t....0.245160.288940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111943203251670287177AG335871BenignCharcot-Marie-Tooth_disease,_type_2|Charcot-Ma...0.849180.82410.881191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111956762301670299692TGCCCATCAGAAAATCCAT667573Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111968032701670531754TG791639BenignCongenital_disorder_of_glycosylation_type_2J...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11197956991670546234GA101596BenignCongenital_disorder_of_glycosylation|not_speci...0.381810.45110.470251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
111983800591670548219AT377764Benignnot_specified0.057250.063520.046330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11199956971670548297GA101594BenignCongenital_disorder_of_glycosylation|Congenita...0.95560.947430.959471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112004029541670954915GT390205Benignnot_specified0.99374.0.9991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112014029551670972595TC390115BenignCiliary_dyskinesia,_primary,_5|not_specified.0.616420.453871|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112028080741670986425TC797374Uncertain_significancenot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112034029561671015329GT390310Benignnot_specified.0.408710.467250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112044029571671163693AG390116Benignnot_specified.0.38474.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112054029581671220755AG390175Benignnot_specified0.043090.041170.018570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112064029591671264523TA390176Benignnot_specified.0.372990.405350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112073204491672058672GT336023BenignMiller_syndrome..0.544531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112083204531672058881AG326286BenignMiller_syndrome..0.543731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112093204591672059149AG336034BenignMiller_syndrome..0.544931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112103204611672059269TC336037BenignMiller_syndrome..0.543931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112117687891672110948CG703799Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112127687911672991715AG703805Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112133204661674747024GC326302BenignSpastic_paraplegia_35..0.25041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112143204771674747451CG342319BenignSpastic_paraplegia_35..0.237820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112151290321674750396TC134478Benign/Likely_benignSpastic_paraplegia_35|not_specified0.169360.119510.116011/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112161290311674750405GA134477BenignSpastic_paraplegia_35|not_specified0.781160.77320.725241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112176801341674753079CT668415Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112181290281674808425GA134474BenignSpastic_paraplegia_35|not_specified0.32130.35870.2490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112193691271674808737CG353356BenignSpastic_paraplegia_35|not_provided..0.68511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112203205051675507094CT336068BenignMacular_corneal_dystrophy_Type_I..0.658151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112213205071675507253TA343959BenignMacular_corneal_dystrophy_Type_I..0.792731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112223205191675508173AG342351BenignMacular_corneal_dystrophy_Type_I..0.384390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112233205201675508234AG336084BenignMacular_corneal_dystrophy_Type_I..0.514380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112243205271675508720CG326345BenignMacular_corneal_dystrophy_Type_I..0.540740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112253205311675508797GA343972BenignMacular_corneal_dystrophy_Type_I..0.465860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112263205391675509312CAGC343978BenignMacular_corneal_dystrophy_Type_I...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112273205521675510212GA342363BenignMacular_corneal_dystrophy_Type_I..0.207870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112283205571675510515GC336122BenignMacular_corneal_dystrophy_Type_I..0.521771|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112293205581675510572GA326366BenignMacular_corneal_dystrophy_Type_I..0.976641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112303205591675510620GA342366BenignMacular_corneal_dystrophy_Type_I..0.531950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112313205611675510646CTC326370BenignMacular_corneal_dystrophy_Type_I...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112323205671675510973AC326376BenignMacular_corneal_dystrophy_Type_I..0.507991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112333205961675512296GGC326392BenignMacular_corneal_dystrophy_Type_I..0.556711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112343206111675513243GC342409Benign/Likely_benignMacular_corneal_dystrophy_Type_I0.03868.0.017570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112351305911675574030CT136037Benignnot_specified0.043730.174020.270170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112366693961675589407GA668419Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112371305871675590092GC136033BenignJoubert_syndrome_20|not_specified0.058090.281330.289140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112388032741677401545AG791643BenignMicrocornea,_myopic_chorioretinal_atrophy,_and......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112396703301678148830CT667608Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112402607381678149067AC255878Benignnot_specified0.23051.0.175920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112416703311678149173AC668900Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112426703331678197911TC668429Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112432607391678198192TC255879Benignnot_specified|not_provided0.743450.748210.789141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112445869441678312497CA577569Benignnot_provided0.461970.459470.472240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112452607401678420775GA255880BenignEpileptic_encephalopathy,_early_infantile,_1|n...0.45934.0.263380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112466688421678421128GC667618Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112475402401678658393TG530280Benignnot_provided..0.503990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112486708691679245465TC668476Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112496826641681348396GT668481Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112506734421681348484AG668624Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112516803121681349106TG668955Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112526803131681385525CT668634Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112536826651681387727AG668635Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112546826661681395801CT668483Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112556807401681395918AG668637Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112566374321681396287CT625349Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112576697681681397079GGA667627Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112586817021681397166TC668490Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112596826671681397804TC668494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112606807411681398520GA668639Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112611291311681398635CT134577BenignGiant_axonal_neuropathy_1|not_specified0.229780.195440.151160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112626817151681399305GA668501Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112633206641681411282TC336177Likely_benignGiant_axonal_neuropathy_1..0.012980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112643206681681411448GA344092BenignGiant_axonal_neuropathy_1..0.62760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112653206741681411673CG336184BenignGiant_axonal_neuropathy_1..0.671131|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112663206781681411793TA342450BenignGiant_axonal_neuropathy_1..0.641770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112673206831681412168GA336191BenignGiant_axonal_neuropathy_1..0.305510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112683206881681412469CT326450Uncertain_significanceGiant_axonal_neuropathy_1..0.0021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112694033161681819768TC390119Benignnot_specified0.667990.724770.733231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112704033171681888152AG390125Benignnot_specified0.25572.0.212060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112714033181681892708TA390128Benignnot_specified0.556960.550930.541130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112724033201681929488CT390208Benignnot_specified0.288480.41580.406550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112734033221681941319CT390314Benignnot_specified0.72252.0.774961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112744033231681954789CG390182Benignnot_specified0.46815.0.519770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112754033241681971403TC390147Benignnot_specified0.40560.448670.31390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112762576441682673047CT255899Benignnot_specified.0.995930.93871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112772576491683065664GA255902Benignnot_specified0.55346.0.534151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112782576471683817019AG255908Benignnot_specified0.814910.810780.816091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11279955011683933296TC101400BenignDeficiency_of_malonyl-CoA_decarboxylase|not_sp...0.96756.0.957071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112807688001684070514AC778222Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112812911451684075563CA275382Benignnot_specified0.56769.0.585060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112821630861684209634CG176164BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.510690.527990.531750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112832629331684211483CT255935BenignPrimary_ciliary_dyskinesia|not_specified0.491310.510630.50180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112844025961684213434AT390214Benignnot_specified0.309720.400750.320290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112853208011686546887TC336334BenignPersistent_fetal_circulation..0.850241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112863208091686547153AAT336352BenignPersistent_fetal_circulation...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112873208181686547355AG344175BenignPersistent_fetal_circulation..0.817891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112883208221686547496CT344178BenignPersistent_fetal_circulation..0.527360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112893208311686547855CTTCT,C344180BenignPersistent_fetal_circulation...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
112903799471687960560AT375545Benignnot_specified|not_provided0.437530.429880.277960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112911931771688494947TC190342BenignBrittle_cornea_syndrome_1|not_specified.0.982730.989021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112921931781688494976AC190343BenignBrittle_cornea_syndrome_1|not_specified..0.855031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112933208661688495407GC336441BenignBrittle_cornea_syndrome_1|not_specified.0.999550.991611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112943208721688495654AG336442BenignBrittle_cornea_syndrome_1|not_specified.0.944360.87481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112951931731688497031TC190338BenignBrittle_cornea_syndrome_1|not_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112962854441688497400GA269681BenignBrittle_cornea_syndrome_1|not_specified.0.960310.902561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112972854451688497446AG269682BenignBrittle_cornea_syndrome_1|not_specified0.8140.902170.818891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112982812051688498221CT265442BenignBrittle_cornea_syndrome_1|not_specified0.877250.874830.844251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
112992850421688498297TG269279BenignBrittle_cornea_syndrome_1|not_specified0.839690.927770.846451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113003209431688499539CG336479BenignBrittle_cornea_syndrome_1|not_specified0.819660.864780.779551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113012885131688502482CT272750BenignBrittle_cornea_syndrome_1|not_specified.0.534510.470051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113021951251688502505AG192286BenignBrittle_cornea_syndrome_1|not_specified0.995180.998340.996211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113031951141688504868AG192275BenignBrittle_cornea_syndrome_1|not_specified0.999780.999810.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113043210311688505635AG326742BenignBrittle_cornea_syndrome_1|not_specified0.775660.788550.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113053210341688505734CT336532BenignBrittle_cornea_syndrome_1|not_specified0.987950.995740.987221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113063210471688506287GGGCCTCCTCCCTCTGACCACAGGGTCAT342833BenignBrittle_cornea_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113073210511688506358TG342834BenignBrittle_cornea_syndrome_1..0.947281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113083210561688506528GA342835BenignBrittle_cornea_syndrome_1..0.986221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113093210591688506599ATA336547BenignBrittle_cornea_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113103210641688506741AG344469BenignBrittle_cornea_syndrome_1..0.840861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113111980421688709828AG195203Benignnot_specified0.684690.689230.737420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1131222631688713236AG17302BenignCYBA_POLYMORPHISM|Very_early_onset_inflammator....0.690830.664340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113131962071688713501AG193368Benignnot_specified0.439950.482070.366010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113144400401688782676AG433792Benignnot_specified.0.889560.867811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113154400411688783449CG433793Benignnot_specified0.631410.592240.68571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113164400481688783521TC433800Benignnot_specified0.90670.896480.891971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113174400551688786063CT433807Benignnot_specified0.02760.053930.036140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113184400491688787704GC433801Benignnot_specified0.87812.0.852440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113193812681688788477AG377889Benignnot_specified.0.831650.859630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113204400501688792047AG433802Benignnot_specified0.904730.850980.87260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113214400421688792097AG433794Benignnot_specified0.904070.849150.87220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113224400581688800913CT433810Benignnot_specified.0.100170.105430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113234400391688803124TC433791Benignnot_specified0.35070.324280.430310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113244400511688803982CG433803Benignnot_specified.0.69420.757191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113254400541688804349GT433806Benignnot_specified..0.038340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113264400431688804734AG433795BenignLymphedema,_hereditary,_III|not_specified0.859330.78230.820290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113274400461688808743AG433798Benignnot_specified0.903370.866190.909351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113284400471688851310AC433799Benignnot_specified.0.33630.299321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113291286801688872145TC134129BenignMeier-Gorlin_syndrome_4|not_specified0.999540.999340.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113301286831688872511TC134132BenignMeier-Gorlin_syndrome_4|not_specified0.847650.818340.870211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113313887321689165169TC375615Uncertain_significancenot_provided.0.000650.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113322035981689167075CCCCCAGGAGGCTCCCGGGAG200301Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113331362691689167094TC139972Benignnot_specified.0.699850.62441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113341362711689167140GC139974Benignnot_specified0.91518.0.849241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113351362721689167395CT139975Benignnot_specified0.724150.707190.619011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113361362731689167404TC139976Benignnot_specified0.724690.707780.619811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113371362741689167431GC139977Benignnot_specified0.722450.71050.619811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113381362751689167443TC139978Benignnot_specified0.725450.71060.619811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113391362761689167458CA139979Benignnot_specified..0.619211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113404393641689178474TC433338BenignCombined_malonic_and_methylmalonic_aciduria.0.05429.1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113411286411689256695GA134090Likely_benignnot_specified0.15320.193860.175520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113421286461689258747AC134095Benignnot_specified0.289210.499170.453080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113431286471689259993AG134096Likely_benignnot_specified0.396010.507410.49980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113445877971689350038GA580427BenignAutism_spectrum_disorder0.697010.637850.533551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113457071611689350658CT693969Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113466701181689576663GA667657Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113476695721689579076AG668688Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113486701231689579123GA668692Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113496701241689590243GA668549Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113502589101689590667TC255958BenignSpastic_paraplegia_7|not_specified|Spastic_Par...0.436520.477150.529350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113516711361689593198CT668714Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113526701251689595723GA668716Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113532589111689597221AG255959BenignSpastic_paraplegia_7|not_specified|Spastic_Par...0.43744.0.529350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113546701261689599241CT667663Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113556699511689599352GT668551Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113566840941689603586AG668720Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113571303691689613123AG135816Benign/Likely_benignSpastic_paraplegia_7|not_specified|Spastic_Par...0.141120.150710.106430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113586701281689613373GA668563Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113596701291689613412TC669000Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113606674981689616558TC668565Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113616716941689616725CT668722Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113621303701689620328GA135817Benign/Likely_benignSpastic_paraplegia_7|not_specified|Spastic_Par...0.140990.150910.105830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113633212971689623990CCCACA326827Likely_benignSpastic_Paraplegia,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113646801121689713174CT669003Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113656801041689715648GA667705Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113666791251689716140TC668737Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113676680861689717711GA667711Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11368143111689985844GT29350BenignSkin/hair/eye_pigmentation_2,_blond_hair/fair_....0.083210.035340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113696702591690000925TC667719Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113704028911690102835AG390188Benignnot_specified0.404050.324010.264380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
113714028941690109711AG390321Benignnot_specified0.82918.0.844251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137266758617455451CA669450Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137338087817465775GA378523Benignnot_specified0.334230.278440.348640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137466758517534525TG669170Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137567083717556884AG669005Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137667083617600502CT668251Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137738087717600735AG375663Benignnot_specified0.188140.186260.221050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137866758417601018CA669547Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1137966939717602261GT669304Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1138067083517602469GC669307Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1138167193017613501AC669310Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1138267026817618039GA656467Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1138367187617618408CA669560Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11384768812171132706CG703962Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11385260033171265325TA256080Benignnot_specified0.284120.414150.362620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11386508101171373518TC505951Benignnot_specified0.79010.725220.711661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11387508100171373612CT505952Benignnot_specified0.936750.863230.820891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11388508157171387472CT505968Benignnot_specified0.129790.11170.066290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11389683015171388973CT669145Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11390321889171576369CT337224Likely_benignRetinitis_Pigmentosa,_Dominant0.328160.217140.273560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11391321898171578939CT343473Likely_benignRetinitis_Pigmentosa,_Dominant0.311320.212930.261580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11392321906171580929GC343496Likely_benignRetinitis_Pigmentosa,_Dominant0.328620.2170.272360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11393321915171584324AG343505Likely_benignRetinitis_Pigmentosa,_Dominant0.329460.217360.272170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11394321917171585130AG343509Likely_benignRetinitis_Pigmentosa,_Dominant0.289710.187070.25040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11395130734171630208CT136180Likely_benignnot_specified.0.260620.233230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11396130735171630395TC136181Likely_benignnot_specified0.229620.269750.267170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11397130736171630584AG136182Likely_benignnot_specified0.265670.277430.298520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11398130739171636934AG136185Likely_benignnot_specified0.236130.281120.278950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11399130740171637074AG136186Likely_benignnot_specified0.524180.516350.539540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11400130741171637302AG136187Benign/Likely_benignCerebellar_ataxia,_mental_retardation,_and_dys...0.722970.75260.762380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11401130744171639458AG136190Likely_benignnot_specified0.693790.734220.717650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11402674942171673104GA668879Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11403322000171673276CT337339BenignOsteogenesis_imperfecta,_type_VI|not_specified...0.711830.618820.62621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11404667593171674605TC668883Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11405667594171674687TC668885Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11406674943171675127CT668893BenignOsteogenesis_imperfecta,_type_VI|not_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11407674945171675451TC667837Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11408674946171678256GC669188Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11409674948171679805AG669190Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11410322012171680002TC343606BenignOsteogenesis_imperfecta,_type_VI|not_specified...0.770110.729240.776760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11411667540172573173AG668929Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11412159528172573652CT169359Benignnot_specified|not_provided0.887280.914850.892371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11413667794172573858CT668773Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11414674160172577091CT668778Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11415667542172579453TC669231Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11416673026172584946GA668938Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1141742175172585113CT51341BenignLissencephaly_1|not_specified|Lissencephaly/Su...0.207290.212040.138581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11418322281172586229AG345238BenignLissencephaly/Subcortical_Band_Heterotopia..0.836661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11419322300172587326GA343787Likely_benignLissencephaly/Subcortical_Band_Heterotopia..0.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11420322332172588722TAAT343814Uncertain_significanceLissencephaly/Subcortical_Band_Heterotopia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11421322681173414135TG328033BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.140581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11422322682173414160TC344101BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.434310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11423322692173414774TC337867BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.943291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11424322694173414859CT344105BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.942491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11425322696173414939AG345500BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.845451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11426322699173415096CT345504BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.942291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11427322701173415118GA337879BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.139781/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11428322709173415370GT344111BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.945091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11429322719173415646AG344115BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.139580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11430322720173415678TG345531BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.434110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11431322723173415982CG337891BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.905751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11432322728173416172AG337904BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.56490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11433322730173416271CT345539BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.920931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11434322731173416309AC328071BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.367010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11435322735173416555CA337920BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.468050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11436322741173417123CT337926BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.996011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11437322788173445901TG337972BenignPalmoplantar_keratoderma,_mutilating,_with_per...0.51469.0.579071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11438322795173447914CT345570BenignPalmoplantar_keratoderma,_mutilating,_with_per...0.586190.640450.662541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11439322796173448453GA344159Benign/Likely_benignPalmoplantar_keratoderma,_mutilating,_with_per...0.010380.009220.003190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11440322799173458072TC345577BenignPalmoplantar_keratoderma,_mutilating,_with_per...0.9980.999430.99721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11441322806173461157CT328144BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.267970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11442322811173461236TC328145BenignPalmoplantar_keratoderma,_mutilating,_with_per.....0.692290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11443791431173495465CT715392Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11444189125173504326AG186968BenignNephropathic_cystinosis..0.861220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11445558924173558417CG549742Benignnot_provided0.863450.95380.845251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11446683626173558698GA667876Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11447257157173561396CT256153BenignNephropathic_cystinosis|Cystinosis|not_specifi...0.834920.918280.818291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11448257152173563963CG256155BenignNephropathic_cystinosis|Cystinosis|not_specifi...0.190450.251420.228630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11449322892173565103AG345655BenignNephropathic_cystinosis|Cystinosis..0.742010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11450322899173565332CT328216Uncertain_significanceNephropathic_cystinosis|Cystinosis..0.007590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11451322913173565969TC328225BenignNephropathic_cystinosis|Cystinosis..0.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11452322914173566045TTC328229BenignNephropathic_cystinosis|Cystinosis..0.767571/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11453322920173566232CT328241BenignNephropathic_cystinosis|Cystinosis..0.361620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11454403283173594276TGT390187Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11455768821173664477AAATT778471Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11456721195173801182GA731146Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11457226006174836381CT227792drug_responsenot_specified|aspirin_response_-_Efficacy0.123160.097960.131590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11458255467174837210AG256260Benignnot_specified.0.153480.842251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11459324134174854480CT339128BenignGlycogen_storage_disease_type_13|not_specified..0.326080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11460324136174856376AG346462BenignGlycogen_storage_disease_type_13|not_specified...0.669080.649280.56411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11461324138174856580TC339134BenignGlycogen_storage_disease_type_13|not_specified...0.45010.460610.303910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11462403467174863410AG390198Benignnot_specified0.84710.783820.702881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11463682849174904376TA669096Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11464516675174906146GCCG506467Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11465682850174907103GA669100Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11466424675174908241GA411591Conflicting_interpretations_of_pathogenicityHereditary_spastic_paraplegia|not_specified|no...0.003310.003510.00060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11467380828174924097CG378498Benignnot_specified0.067350.111720.06290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11468380827174926882AG376339Benignnot_specified0.664360.714280.675120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11469684053174936972GA656452Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11470684048174937575TC656453Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11471403240175425077TC390199Benignnot_specified0.482620.454850.417930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
114724163175485367AT19202risk_factorVitiligo-associated_multiple_autoimmune_diseas....0.374950.192091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11473324569176327212CT339690Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.047120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11474324577176327389GA339707Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.121210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11475324579176327491CT329421Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.075080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11476324587176327771TC339716Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.196490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11477324594176328174CT339722Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos.....0.615620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1147899805176330068TC105694Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Retin...0.738660.724980.713660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11479166655176331803TC177472Benign/Likely_benignLeber_congenital_amaurosis|not_specified|Retin...0.605260.634590.575880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1148099789176337404GA105678Likely_benignLeber_congenital_amaurosis|Retinitis_Pigmentos...0.021070.021920.006190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11481324659176355102GTG345498BenignCone-Rod_Dystrophy,_Dominant...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11482324663176355193ACA345511Uncertain_significanceCone-Rod_Dystrophy,_Dominant...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11483324671176355212CCA346833Uncertain_significanceCone-Rod_Dystrophy,_Dominant...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11484324683176355419GA339763BenignCone-Rod_Dystrophy,_Dominant..0.333070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11485324731176358017GA339793BenignCone-Rod_Dystrophy,_Dominant..0.705671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11486324732176358075AAC339795BenignCone-Rod_Dystrophy,_Dominant...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11487324737176358174AG346872BenignCone-Rod_Dystrophy,_Dominant..0.43671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11488261946176364753AG256341Benignnot_specified|Cone-Rod_Dystrophy,_Dominant|not...0.889050.868710.913941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11489667465176604708TG669067Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11490672845176606576CT668237Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11491667464176606748CT669271Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11492668854176606933AG668239Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11493670097176606976GT669068Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11494672844176606995CT669070Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11495670096176607018GA669288Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11496670095176607031CCT669076Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11497672896176610536AG669535Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11498786837177004906GA715660Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11499166637177123240TTGGGCGTGCAGGACGC177462BenignVery_long_chain_acyl-CoA_dehydrogenase_deficie...0.45172.0.467850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1150092277177127718TC98188BenignVery_long_chain_acyl-CoA_dehydrogenase_deficie...0.561750.600030.519770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11501679141177350544GA669333Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11502128752177350975TC134201Benign/Likely_benignnot_specified|Congenital_Myasthenic_Syndrome,_...0.148620.17480.18730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11503256772177358803GA256403Benignnot_specified|not_provided0.967090.990880.967051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11504679143177358861TC669339Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11505256773177359277TC256404Benignnot_specified0.145630.17560.182910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11506325109177360110TC345778BenignCongenital_Myasthenic_Syndrome,_Dominant/Reces.....0.305711|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11507325112177360323TC345779Likely_benignCongenital_Myasthenic_Syndrome,_Dominant/Reces.....0.181910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11508325511177487108AG345999Likely_benignCongenital_disorder_of_glycosylation..0.240620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11509325524177491177GT330041BenignCongenital_disorder_of_glycosylation.0.809470.681910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11510325623177572101CT340457Likely_benignLi-Fraumeni_syndrome..0.057110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11511256603177578115TC256462Benignnot_specified..0.833670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11512440348177578645CT433983Benignnot_specified..0.842850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11513803309177578711CTTTC791833Likely_benignSquamous_cell_carcinoma_of_the_head_and_neck...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11514695142177578837AG685438Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11515256604177579619GT256464Benignnot_specified0.070810.065870.077680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11516260999177606722CG256472Benignnot_specified|Dyskeratosis_Congenita,_Recessive0.39559.0.511180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11517402705177630505TC390368Benignnot_specified0.149930.129920.086260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11518402707177673928CG390242Benignnot_specified0.27749.0.358030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11519402708177680159GA390253Benignnot_specified0.248350.242340.120410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11520402709177681412CG390245Benignnot_specified0.792170.874170.761381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11521402710177700712CT390251Benignnot_specified0.520530.602730.533951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11522402712177721030GA390252Benignnot_specified0.302550.280490.171330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11523402713177722365CT390255Benignnot_specified0.649850.605870.611020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115249353177906519GT24392BenignLeber_congenital_amaurosis_1|not_specified|not....0.521140.415941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11525257554177983969GC256545BenignCongenital_ichthyosiform_erythroderma|not_spec...0.409350.375970.454471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11526325934177990915AG340784BenignCongenital_ichthyosiform_erythroderma..0.381390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11527325949177999589TG330553BenignCongenital_ichthyosiform_erythroderma..0.482030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11528325991178129160AG346455BenignDyskeratosis_Congenita,_Recessive..0.333070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11529128861178132763TC134309Benignnot_specified|Dyskeratosis_Congenita,_Recessive0.800870.750860.663540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11530128860178135061TC134308Benignnot_specified|Dyskeratosis_Congenita,_Recessive0.953010.950740.93730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11531261822178141707TC256553Benignnot_specified|Dyskeratosis_Congenita,_Recessive..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11532129893178792029AG135339Benignnot_specified0.502150.410790.443490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11533129894178792514GA135340Benignnot_specified0.502610.41030.442690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11534692209178932082CT679951Uncertain_significanceNonsyndromic_cleft_lip_with_or_without_cleft_p......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115351296781710297658AG135124Benign/Likely_benignHecht_syndrome|not_specified0.629730.509580.485421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115361296741710304261GA135120Benign/Likely_benignHecht_syndrome|not_specified0.619640.502490.473641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115371296801710318636AG135126Benign/Likely_benignHecht_syndrome|not_specified0.856680.92240.862420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115382587011710532884GA256041Benignnot_specified..0.514180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115392586981710533595CCT256045Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.585880.641320.513580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115402586941710535100CA256046Likely_benignnot_specified0.045130.035980.040540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115412586911710535349CG256048Benignnot_specified0.79842.0.723841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115422586901710535761GA256049Benignnot_specified0.581190.609510.466850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115431296631710536018GA135109Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.583810.608950.469650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115441296581710541515CT135104Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.716290.690180.586461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115451296561710542471TG135102Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.58166.0.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115461296531710542765AG135099Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.581960.60940.466450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115472586761710542803TC256059Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.581960.608850.466450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115481296521710542886TC135098Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.582040.608520.466250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115491296511710543385TC135097Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.069660.042910.06170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115501296501710543463TC135096Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.582040.608520.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115512586731710544018TC256062Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.582190.613990.466650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115521296491710544416GT135095Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.58173..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115531296481710544461GA135094Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She...0.069740.042920.06170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115543217521710544696GAGAA,G337081Likely_benignArthrogryposis_multiplex_congenita|Freeman-She......1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
115552586711710546130TG256063Benign/Likely_benignArthrogryposis_multiplex_congenita|Freeman-She.....0.525961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115562586681710548992CT256066Benignnot_specified0.581580.60750.466050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115572586671710549184GA256067Benignnot_specified0.581420.607320.464260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115582586951710553046AG256072Benignnot_specified0.650930.650510.525761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115592586821710555028GA256077Benignnot_specified0.581420.607620.464060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115603217801710583714GC344879BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....0.477840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115613217851710584116CT344888BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115626837021710595024CT668791Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115636762571710596380GA668646Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115646837011710599304TC668648Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115654027731711511457CT390159Benignnot_specified0.345990.452160.443290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115664027761711583089TC390325Benignnot_specified0.968320.972190.947881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115674027771711648332CT390327Benignnot_specified0.735890.79380.770170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115684027781711651057AG390221Benignnot_specified0.216130.221340.224640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115694027801711737941CT390330Benignnot_specified0.309170.346860.353440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115704027821711757556CG390174Benignnot_specified0.39605.0.403550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115714027831711786951TC390235Benignnot_specified0.406040.452830.385980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115724027861711835321CT390179Benignnot_specified0.160620.180150.163740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115734027881711865462GA390186Benignnot_specified0.160930.184080.160140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115746746881712896553CT668792Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115753799671712920260AG378068Benignnot_specified0.272340.27160.208470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115766834981712921645TC668830Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115776834971712921672GA668832Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115783218031713972811GA343328BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....0.995611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115791370051713972955CT140708Benign/Likely_benignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.048290.059460.033150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115806694771713973131TC667774Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115816725141713979767AAT668839Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115821370061713980058AT140709Benign/Likely_benignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.04990.076460.06151|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115831370091713980350GA140712BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.490390.494470.463860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115841370031714005439GA140706BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.555510.522310.491811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115856835921714062974GA669120Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115861369951714095309AG140698BenignLeigh_syndrome|Hepatic_failure,_early-onset,_a...0.553440.584970.548321|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115873218221714110827GA327302Likely_benignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....0.201681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115883218391714111608CT343366Likely_benignLeigh_syndrome|Hepatic_failure,_early-onset,_a.....0.201881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115893218531715133705CAGC343376Likely_benignHereditary_liability_to_pressure_palsies|Charc......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115903218591715134175TG343380BenignHereditary_liability_to_pressure_palsies|Charc....0.535080.595451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115916770661715142588GA667803Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115926334871715162389TC621914BenignCharcot-Marie-Tooth_disease,_type_I0.605110.550190.610421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115936675051715906912GA668869Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115943219691715932071CCTT343401Likely_benignMitochondrial_complex_III_deficiency,_nuclear_....0.493030.494411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115953219841715932627TC337188Likely_benignMitochondrial_complex_III_deficiency,_nuclear_....0.446220.367411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115963219901716229232AG343431BenignColoboma,_Congenital_Heart_Disease,_Ichthyosif...0.394280.413990.267371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11597368791716855878CT45540BenignCommon_variable_immunodeficiency_2|not_specifi...0.809630.811190.899561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115983220331717115566AG343533BenignSpontaneous_pneumothorax|Multiple_fibrofollicu.....0.713061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
115993220481717116412AG337305BenignSpontaneous_pneumothorax|Multiple_fibrofollicu.....0.710661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11600964681717122327GA102362BenignSpontaneous_pneumothorax|Multiple_fibrofollicu...0.44910.502340.5031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11601964861717127471GA102380BenignSpontaneous_pneumothorax|Multiple_fibrofollicu...0.373810.484080.405151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116023220821717140297GA343588BenignSpontaneous_pneumothorax|Multiple_fibrofollicu.....0.428321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116033220871717140485CG337331BenignSpontaneous_pneumothorax|Multiple_fibrofollicu.....0.743211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11604961831717696531GC102077BenignSmith-Magenis_syndrome|History_of_neurodevelop...0.412180.488180.666930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11605961941717696755CA102088BenignSmith-Magenis_syndrome|History_of_neurodevelop...0.337150.441670.56370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116061675581717698099GA177998Uncertain_significancenot_provided0.000230.00019.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11607961791717698254GA102073BenignSmith-Magenis_syndrome|History_of_neurodevelop...0.601110.506910.399760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11608961951717707105TC102089BenignSmith-Magenis_syndrome|History_of_neurodevelop...0.43580.421410.240620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116096696911717922280GA669203Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116106696881717924868AG668760Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116113221021718021882TC345134Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.607430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116123221061718022039AC343645Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.607030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116131953151718023897GA192476Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.335430.528880.553510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116142267781718024013AG230693Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.303640.525830.56590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116152267791718024266TG230696Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|.....0.496010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116166825321718030240TC668764Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116176825331718030524GA668766Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11618457511718046058AC54916Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.769010.713070.684310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11619457531718046898TC54918Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.803410.739480.718050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11620457581718052867TC54923Benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.999520.989470.989821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11621457611718055229GA54926Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.599020.563590.390780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116222267891718057215CG230743Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.25743.0.210260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11623457741718064730CT54939Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.204780.176720.157550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11624457751718065888TC54940Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.203850.18540.156950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11625457441718077175TC54909Benign/Likely_benignDeafness,_autosomal_recessive_3|not_specified|...0.794920.73120.721450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116263221911718082796CG327624Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.156750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116273221961718083104GA327635Likely_benignNonsyndromic_Hearing_Loss,_Recessive..0.721050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116282606751719247075GA256099BenignMeckel_syndrome,_type_9|not_specified0.599570.59940.31051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116296747191719265797CT667861Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116303222191719578873AT345179BenignSjögren-Larsson_syndrome|not_provided0.550670.615410.678510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116313222371719580494AG345207BenignSjögren-Larsson_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116323222401719580760TACT327687BenignSjögren-Larsson_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1163354041719812541TC20443risk_factorCardiac_conduction_defect,_susceptibility_to.0.373650.393970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116347688411721201719TC778368Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116357688421721202191CA704020Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116367688431721202237GC704021Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116377688491721205460CT704027Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116387688501721206556CT778456Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116392188441721207813TG215533Uncertain_significancenot_specified.0.28464.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116407688521721207844CT704029Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116417688531721208413CT704030Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116427688541721208449GT778324Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116437688551721215446CT778240Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116447688561721215483CT704032Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116457688571721215537CA704034Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116467688581721215552CT704035Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116477688591721215557GA704036Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116487688601721216846GC704037Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116497688611721217513GA704038Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116503223351726721791CA337587BenignCongenital_defect_of_folate_absorption..0.617411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116513223361726721895GA327762BenignCongenital_defect_of_folate_absorption..0.617411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116523223411726722039GGA327778BenignCongenital_defect_of_folate_absorption...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116533223461726722645GA345316BenignCongenital_defect_of_folate_absorption..0.616611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116543223481726722728CT345318BenignCongenital_defect_of_folate_absorption..0.612021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116553223611726723613GT327801BenignCongenital_defect_of_folate_absorption..0.533951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116563223621726723666AC345325BenignCongenital_defect_of_folate_absorption..0.754991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116573223841726725265GA343853BenignCongenital_defect_of_folate_absorption..0.605231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116583223931726725744TC345336BenignCongenital_defect_of_folate_absorption..0.548521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116593793901726851501GA374904Benignnot_specified0.630250.714920.650760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116603794091726856261AG375818Benignnot_specified0.420650.385970.430710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116613224361726864302GC337689BenignT-cell_immunodeficiency,_congenital_alopecia_a...0.378670.322890.392770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116623224941727069393CT345410BenignNephronophthisis..0.390780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116632596721727580756CT256112Benignnot_specified|not_provided0.220280.217060.290740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116643225091728523726GT327926Likely_benignBehavior_disorder..0.581071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116653225181728524804AC327928Likely_benignBehavior_disorder..0.483431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116663225211728525011AC343987Likely_benignBehavior_disorder..0.485221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116673225461728549898GT327950Likely_benignBehavior_disorder..0.796331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116685617561729482701CT552872Benignnot_provided..0.652560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116695614631729482878GA552873Benignnot_provided..0.509980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116702572831729486152GA256114Benignnot_specified|not_provided0.574140.6230.509780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116715614641729496819CT552882Benignnot_provided..0.488420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116721838251729508775GA184518Benign/Likely_benignHereditary_cancer-predisposing_syndrome|Neurof...0.57440.62280.511780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116735614651729509791CT552890Benignnot_provided..0.478040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116745614661729509801GT552891Benignnot_provided..0.493610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116755617571729530350AC552900Benignnot_provided..0.517570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116765617581729530362CT552901Benignnot_provided..0.510580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116775617591729541061TC552902Benignnot_provided..0.474440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116785614681729541339AT552904Benignnot_provided..0.610620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116792572761729541437TC256117Benignnot_specified|not_provided0.56385.0.474040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116802572771729545987AAT256119Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116812572781729546175TC256120Benignnot_specified|not_provided0.535980.633970.473440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116825617601729550141GA552913Benignnot_provided..0.464060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116831838261729553485GA184580Benign/Likely_benignHereditary_cancer-predisposing_syndrome|Neurof...0.416350.382730.496810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116845614691729558082TC552936Benignnot_provided..0.546130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116855614711729559588GC552941Benignnot_provided..0.526160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116862572851729559932CA256126Benignnot_specified0.390360.367630.458070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116875617611729577248GA552948Benignnot_provided..0.511580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116884032301729646032GA390336Benignnot_specified0.66608.0.591850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116895617621729652531AG552959Benignnot_provided..0.380390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116902572931729653293TC256134Benignnot_specified|not_provided0.676690.600050.605830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116912572941729654876TA256135Benignnot_specified|not_provided0.516220.536380.431910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116925614721729654974GA552970Benignnot_provided..0.431710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116935617661729661340GT552975Benignnot_provided..0.380390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116945614731729663172AC552981Benignnot_provided..0.886781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116952573001729670190CG256140Benignnot_specified|not_provided0.883120.906850.87381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116965617631729675878TG552992Benignnot_provided..0.415140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116975614751729675971TA552993Benignnot_provided..0.424520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116982573031729679246GA256143Benignnot_specified|not_provided0.51338.0.430910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
116995614761729684553CT553001Benignnot_provided..0.402360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117005617641729685150AG553002Benignnot_provided..0.245810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117013225971729703374GA345469Likely_benignNeurofibromatosis,_type_1|Café-au-lait_macules.....0.530550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117023225991729703438CG327986BenignNeurofibromatosis,_type_1|Café-au-lait_macules.....0.558710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117033226031729704002TC337817Likely_benignNeurofibromatosis,_type_1|Café-au-lait_macules.....0.612620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117048056061732957114GA793662Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117058056071732962004CT793663Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117068056081732962050CT793664Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117076796761733433820AG668941Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117083226351733901917TTAAGT344170BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117093226631733905468AG345589BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.87740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117105593401735470031TG550067Benignnot_provided0.037910.01370.044130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117113229401736047275CT345691BenignFamilial_hypoplastic,_glomerulocystic_kidney.0.852390.780350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11712368431736047417AG45504BenignFamilial_hypoplastic,_glomerulocystic_kidney0.67108.0.654950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117136743601736059246AC668961Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117146768781736059377AG667882Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117156768761736059424AAG668964Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117166726931736060736CG668785Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117176769041736065302TTCC667884Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117183229941736485753GC345722BenignCongenital_Stationary_Night_Blindness,_Recessive0.29812.0.304110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117191984411736491083CT195602Benign/Likely_benignnot_specified|Congenital_Stationary_Night_Blin...0.040870.065250.030550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117203230281736493586AT338237Uncertain_significanceCongenital_Stationary_Night_Blindness,_Recessive0.013010.010020.003191|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117211962941736493598AG193455Benignnot_specified|Congenital_Stationary_Night_Blin...0.229850.1580.258590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117226720431737821435GT669266Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11723447091737822311AC53876Benign/Likely_benignHypertrophic_cardiomyopathy|not_specified|Card...0.618340.67060.549721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117246799841737830900AG656430Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117251355191737855834CA139258not_providednot_specified.0.176170.065890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117261340821737884037CG137821not_providednot_specified0.513530.606980.452081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117272590201738240216CT256161Benignnot_specified0.045360.038470.029750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11728661711738978462CT77068not_providednot_provided0.185170.19740.132790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117294030231739253835CT390196Benignnot_specified..0.636380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117303230701739657337CA344363BenignWhite_sponge_nevus_of_cannon..0.68970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117313230841739659183GA338280BenignWhite_sponge_nevus_of_cannon0.807550.906030.799921|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117323230931739659529TC328372BenignWhite_sponge_nevus_of_cannon0.833460.913940.821091|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117333230961739659913GA344370BenignWhite_sponge_nevus_of_cannon0.695140.850890.705270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117343231011739661366GC345815BenignWhite_sponge_nevus_of_cannon0.07550.053450.074280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11735665401739681475AG77437not_providednot_provided0.62010.685720.731831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11736665441739684410GA77441not_providednot_provided0.586040.6890.684111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117373231201739723990TA328390Likely_benignLocalized_epidermolytic_hyperkeratosis0.498920.624140.647361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117383231331739726276CA344409Likely_benignLocalized_epidermolytic_hyperkeratosis0.516990.628890.663141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11739661511739727816TG77048Likely_benignLocalized_epidermolytic_hyperkeratosis|not_pro...0.50162..1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117403231411739728050GA338340Likely_benignLocalized_epidermolytic_hyperkeratosis0.640170.729230.780951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117417119951739739558CT727165Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11742663461739742718AG77243Benignnot_specified|not_provided.0.637520.680511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117432563641739743081GA256164Benignnot_specified0.550260.671510.680511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117447717671739881327TC704140Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117453231591739911771AG344426Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.632191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11746213041739912145TA34156Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.696990.659240.587261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117476721531739912259AAC668979Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117486721521739912581AG667894Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117492614751739913645TC256165Benignnot_specified|not_provided0.793560.710.717251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117502614741739914070GT256166Benignnot_specified|not_provided0.734660.67840.638981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117516688411739920621TC669272Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117526742891739920655CT669278Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117532585931739923614AG256168Benignnot_specified0.834310.763790.744211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117546835461739924931GA667899Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11755458511739925713CT55016Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.042210.049740.023960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11756458451739925925AG55010Benign/Likely_benignArrhythmogenic_right_ventricular_cardiomyopath...0.79556.0.715660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117576733201739928180GA668831Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117586742881739928375CT668990Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117595161211739942819TGCT505900Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117603231751739942919TC328421Likely_benignArrhythmogenic_right_ventricular_cardiomyopath.....0.655351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117615162271739969549CT506811Benignnot_specified0.105570.077990.065890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117626827011739973065AG669283Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117636827031739975164CT668833Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117646827151739977734AG668842Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117656748791739977862CT668998Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117663231971739979062TA338398BenignOsteogenesis_Imperfecta,_Recessive..0.787140|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117673231991739979081CCGG345864Uncertain_significanceOsteogenesis_Imperfecta,_Recessive...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117683232031739979267GCTCG345866BenignOsteogenesis_Imperfecta,_Recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117693232181740466092GA328440BenignHyper-IgE_syndrome..0.449881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117703232581740554956AG345919BenignFamilial_partial_lipodystrophy..0.859231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117713232591740555001GC344514BenignFamilial_partial_lipodystrophy..0.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117723232601740555114AC344515BenignFamilial_partial_lipodystrophy..0.853241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117733232671740555890TC344517BenignFamilial_partial_lipodystrophy..0.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117743232681740555939AT328498BenignFamilial_partial_lipodystrophy..0.532351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117753232711740556247GA338443BenignFamilial_partial_lipodystrophy..0.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117763232751740556515TC344522BenignFamilial_partial_lipodystrophy..0.860021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11777926941740689455TC98601BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.994770.99470.99761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117781950511740689613GC192213Benignnot_specified0.74542.0.720051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117796826471740690118GC669311Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11780926971740693136CG98604Benignnot_specified|not_provided0.00077.0.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117816826481740693344CT667969Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11782926931740696233CG98600BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.84884.0.859231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117833804411740717672CG375926BenignNeurodegeneration_with_brain_iron_accumulation...0.04798.0.024960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117842553501741063466TC256175BenignGlycogen_storage_disease,_type_I|not_specified...0.754440.712370.638381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117853233831741064737CA344623BenignGlycogen_storage_disease,_type_I..0.726641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117863233891741064987TTTTTAGAAT344627BenignGlycogen_storage_disease,_type_I...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117873233951741065531AT338554BenignGlycogen_storage_disease,_type_I..0.607031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117883233961741065538TA344640BenignGlycogen_storage_disease,_type_I..0.651361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117894033531741121209GGCG,GG390210Benignnot_specified...1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
117902092211741192016CCAT206179BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117912092261741193910AT206184BenignBreast-ovarian_cancer,_familial_1..0.537740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117922092271741194885TC206185BenignBreast-ovarian_cancer,_familial_1..0.491410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117932092281741195025TA206186BenignBreast-ovarian_cancer,_familial_1..0.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117942092301741195711GC206188BenignBreast-ovarian_cancer,_familial_1..0.342450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117952092311741195773AG206189BenignBreast-ovarian_cancer,_familial_1..0.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117961327771741196408GA136525BenignHereditary_breast_and_ovarian_cancer_syndrome|....0.444850.342250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117972092341741197274CA206192BenignHereditary_breast_and_ovarian_cancer_syndrome|....0.446470.324480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117982092381741198621AG206196BenignBreast-ovarian_cancer,_familial_1..0.342450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
117992092431741199913TC206201BenignBreast-ovarian_cancer,_familial_1..0.533950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118002092441741200109TC206202BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118012092471741200537TC206205BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118024911531741201653GA485074Likely_benignHereditary_cancer-predisposing_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118032092521741201702CT206210BenignHereditary_cancer-predisposing_syndrome|Breast.....0.325080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118042092561741202688GA206214BenignBreast-ovarian_cancer,_familial_1..0.537740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118052092591741203325TA206217BenignBreast-ovarian_cancer,_familial_1..0.342850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118062092601741203591TC206218BenignBreast-ovarian_cancer,_familial_1..0.342850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118072092661741204377AG206224BenignBreast-ovarian_cancer,_familial_1..0.342850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118082092671741204390TC206225BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118092092771741205772GA206235BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118102092781741205941AG206236BenignBreast-ovarian_cancer,_familial_1..0.490220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118112092791741206056TC206237BenignBreast-ovarian_cancer,_familial_1..0.342850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118122092911741209578TC206249BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118132092961741210396AC206254BenignBreast-ovarian_cancer,_familial_1..0.459270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118142093011741211653AG206259BenignBreast-ovarian_cancer,_familial_1..0.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118152093031741212169CT206261BenignBreast-ovarian_cancer,_familial_1..0.324880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118162093051741212338AC206263BenignBreast-ovarian_cancer,_familial_1..0.342650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118172093061741212547CT206264BenignBreast-ovarian_cancer,_familial_1..0.342450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118182093081741212805CT206266BenignBreast-ovarian_cancer,_familial_1..0.489620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118192093131741213626GT206271BenignBreast-ovarian_cancer,_familial_1..0.324280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118202093141741213660TC206272BenignBreast-ovarian_cancer,_familial_1..0.342050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118212093171741213893CT206275BenignBreast-ovarian_cancer,_familial_1..0.324280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118222093181741213996CT206276BenignBreast-ovarian_cancer,_familial_1..0.324280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118232093201741214209CAAC206278BenignBreast-ovarian_cancer,_familial_1..0.326480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11824554281741215825CT70095BenignFamilial_cancer_of_breast|Hereditary_cancer-pr.....0.342450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118252093221741216205GT206280BenignBreast-ovarian_cancer,_familial_1..0.290940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118262093271741216933TC206285BenignBreast-ovarian_cancer,_familial_1..0.339660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118272093351741217874CT206293BenignBreast-ovarian_cancer,_familial_1..0.335860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118282093361741218333GA206294BenignBreast-ovarian_cancer,_familial_1..0.353630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118292093401741218572TC206298BenignBreast-ovarian_cancer,_familial_1..0.335860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118301271271741219341GT132630BenignFamilial_cancer_of_breast|Breast-ovarian_cance.....0.25280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118311271261741219560CT132629BenignFamilial_cancer_of_breast|Breast-ovarian_cance.....0.306910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118321257461741219780TC131284BenignHereditary_cancer-predisposing_syndrome|Breast.....0.354630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118331257491741219804TC131287BenignBreast-ovarian_cancer,_familial_1|not_specified..0.354630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118342093501741220223AG206308BenignBreast-ovarian_cancer,_familial_1..0.355030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118352093581741222462AG206316BenignBreast-ovarian_cancer,_familial_1..0.355830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118362093591741222723TC206317BenignBreast-ovarian_cancer,_familial_1..0.337460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11837418271741223094TC50266BenignBreast_carcinoma|Hereditary_breast_and_ovarian...0.29817.0.355830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118382647951741223538GGAATGTTCACTGTAACAATGCTTGT259558BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118392093631741224833GC206321BenignBreast-ovarian_cancer,_familial_1..0.336460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118402093711741225839TC206329BenignBreast-ovarian_cancer,_familial_1..0.354830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118412093741741226601GC206332BenignBreast-ovarian_cancer,_familial_1|not_specified..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118422093751741226675AT206333BenignBreast-ovarian_cancer,_familial_1|not_specified..0.50240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118432093761741226736GGGGTTG206334BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118442093781741227083CCGGAA206336BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118452093821741229386TC206340BenignBreast-ovarian_cancer,_familial_1..0.353830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118462648441741229773TC259564BenignBreast-ovarian_cancer,_familial_1..0.353631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118472093841741229777GGT206342BenignBreast-ovarian_cancer,_familial_1...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118482093851741229812AG206343BenignBreast-ovarian_cancer,_familial_1..0.50260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118492093861741229857GA206344BenignBreast-ovarian_cancer,_familial_1..0.548920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118502093871741229908TA206345BenignBreast-ovarian_cancer,_familial_1..0.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118512648271741230105CTC259566BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118522093891741230228GA206347BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118532093901741230336AG206348BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118542093911741230376AG206349BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118552093921741230524TG206350BenignBreast-ovarian_cancer,_familial_1..0.2530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118562093931741230537AT206351BenignBreast-ovarian_cancer,_familial_1..0.50240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118572093961741230990AG206354BenignBreast-ovarian_cancer,_familial_1..0.5030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118582093981741231221AC206356BenignBreast-ovarian_cancer,_familial_1..0.335460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118592093991741231516CT206357BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118602094011741231902GA206359BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118612099291741232344GC206361BenignBreast-ovarian_cancer,_familial_1..0.980231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118622094041741232698CT206363BenignBreast-ovarian_cancer,_familial_1..0.143970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118631257031741234470AG131241BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.279560.34310.336260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118642094131741235799GA206372BenignBreast-ovarian_cancer,_familial_1..0.585460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118652094201741237953GA206379BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118662094241741239472GA206383BenignBreast-ovarian_cancer,_familial_1..0.338060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118672094251741239491TC206384BenignBreast-ovarian_cancer,_familial_1..0.353630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118682094261741239628AG206385BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118692648471741239915ATA259575BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118702094271741240277TC206386BenignBreast-ovarian_cancer,_familial_1..0.170330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118712094321741241390CA206391BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118722094331741241503TC206392BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118732094351741241568TTC206394BenignBreast-ovarian_cancer,_familial_1..0.319690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118742094361741242075AAAGA206395BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118752094391741242285TG206398BenignBreast-ovarian_cancer,_familial_1..0.352640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118761256741741243190TG131212BenignFamilial_cancer_of_breast|Breast-ovarian_cance.....0.50240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11877418181741244000TC50257BenignBreast_carcinoma|Hereditary_breast_and_ovarian...0.295250.349010.352640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11878418151741244435TC50254BenignBreast_carcinoma|Hereditary_breast_and_ovarian...0.279030.342870.335660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11879418121741244936GA50251BenignBreast_carcinoma|Hereditary_breast_and_ovarian...0.493160.410050.543930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118801255541741245237AG131092BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.277640.341960.335260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118811255361741245466GA131074BenignHereditary_breast_and_ovarian_cancer_syndrome|...0.295680.348270.336460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118821271251741247122AACCT132628BenignFamilial_cancer_of_breast|Breast-ovarian_cance......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118832094471741247604AC206406BenignBreast-ovarian_cancer,_familial_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118842094491741248164CT206408BenignBreast-ovarian_cancer,_familial_1..0.335060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118852094501741248484GC206409BenignBreast-ovarian_cancer,_familial_1..0.334860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118862094511741249094AG206410BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118871258891741249363TAT131427BenignHereditary_cancer-predisposing_syndrome|Breast......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118882094581741250678CCT206417BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118892094601741250923TC206419BenignBreast-ovarian_cancer,_familial_1..0.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118902094631741251495CG206422BenignBreast-ovarian_cancer,_familial_1..0.335860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118911258791741251646TA131417BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118922094781741254174AG206437BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118932647781741254405CT259589BenignBreast-ovarian_cancer,_familial_1..0.353440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118942094791741254486TG206438BenignBreast-ovarian_cancer,_familial_1..0.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118952648451741254965CCT259592BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118962094831741255102AG206442BenignBreast-ovarian_cancer,_familial_1..0.335260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118972094841741255111AT206443BenignBreast-ovarian_cancer,_familial_1..0.353240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118982257051741256089AAAAAAAAAGAAAAGA227569BenignBreast-ovarian_cancer,_familial_1|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
118991256141741257134TC131152BenignBreast-ovarian_cancer,_familial_1|not_specified..0.548520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119002094891741257458AC206448BenignBreast-ovarian_cancer,_familial_1..0.335860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119012094911741258043CT206450BenignBreast-ovarian_cancer,_familial_1..0.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119022094941741259049CT206453BenignBreast-ovarian_cancer,_familial_1..0.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119032094991741260808AG206458BenignBreast-ovarian_cancer,_familial_1..0.353040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119042648131741261058TTCTATCTATCTACCTAC259598BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119052095031741261233CT206462BenignBreast-ovarian_cancer,_familial_1..0.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119062095121741263044AG206471BenignBreast-ovarian_cancer,_familial_1..0.352240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119072095161741263566TC206475BenignBreast-ovarian_cancer,_familial_1..0.357030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119082095191741264146GA206478BenignBreast-ovarian_cancer,_familial_1..0.334470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119092095211741264364AG206480BenignBreast-ovarian_cancer,_familial_1..0.334470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119102095241741265776AG206483BenignBreast-ovarian_cancer,_familial_1..0.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119112095311741267050GA206490BenignBreast-ovarian_cancer,_familial_1..0.354230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119122095371741268206AC206496BenignBreast-ovarian_cancer,_familial_1..0.353040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119132648081741268208CCT259612BenignBreast-ovarian_cancer,_familial_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119142095451741270229TG206504BenignBreast-ovarian_cancer,_familial_1..0.353040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119152095471741270277CT206506BenignBreast-ovarian_cancer,_familial_1..0.335460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119162095511741270463GA206510BenignBreast-ovarian_cancer,_familial_1..0.352640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119172095521741270666CA206511BenignBreast-ovarian_cancer,_familial_1..0.335060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119182095591741273095GA206518BenignBreast-ovarian_cancer,_familial_1..0.353040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119192095611741273348TC206520BenignBreast-ovarian_cancer,_familial_1..0.544530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119202095621741273379GC206521BenignBreast-ovarian_cancer,_familial_1..0.335260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119212095641741273537AC206523BenignBreast-ovarian_cancer,_familial_1..0.353040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119222095651741274778GA206524BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119232095681741274906GA206526BenignBreast-ovarian_cancer,_familial_1..0.542730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119242095691741275081GGA206528BenignBreast-ovarian_cancer,_familial_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119252095701741275151GC206529BenignBreast-ovarian_cancer,_familial_1..0.335060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119262095711741275645AG206530BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119271254681741276247AG131006BenignBreast-ovarian_cancer,_familial_1|not_specified..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119282095741741276348TC206533BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119291891231741277187GC186980BenignBreast-ovarian_cancer,_familial_1|not_specified.0.480530.545130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119302095821741278116TC206541BenignBreast-ovarian_cancer,_familial_1..0.503190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119312095831741278377GA206542BenignBreast-ovarian_cancer,_familial_1..0.354030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119322095871741278916AG206546BenignBreast-ovarian_cancer,_familial_1..0.503190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119332095891741279298AG206548BenignBreast-ovarian_cancer,_familial_1..0.354230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119342095921741279561GC206551BenignBreast-ovarian_cancer,_familial_1..0.549320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119352095931741279770AG206552BenignBreast-ovarian_cancer,_familial_1..0.357830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119362095941741279837CA206553BenignBreast-ovarian_cancer,_familial_1..0.335860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119372095951741279882AG206554BenignBreast-ovarian_cancer,_familial_1..0.353630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119383234301741831443GGC338589BenignSclerosing_Bone_Dysplasias..0.51/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119397688901742030743GC704166Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119402626871742084097CG256179BenignHyperammonemia,_type_III|not_specified0.26250.319360.18850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119416806771742084377GA669024Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119422626881742085150TC256180BenignHyperammonemia,_type_III|not_specified|not_pro...0.92270.943220.960261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119436806761742085352GC668862Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119442626861742085972CT256181BenignHyperammonemia,_type_III|not_specified|not_pro...0.572580.565970.475640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119453234521742086180CT344676BenignHyperammonemia,_type_III..0.894771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119463234591742148205CT344691BenignSevere_congenital_neutropenia.0.566960.323080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119472623661742152103GA256183BenignSevere_congenital_neutropenia|not_specified0.085350.176770.269970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119483234811742326258CT344706Likely_benignHemolytic_anemia|Distal_Renal_Tubular_Acidosis.....0.536340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119493234981742327493GT344720Likely_benignHemolytic_anemia|Distal_Renal_Tubular_Acidosis.....0.446490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119508034261742427544GGAGTC791780BenignFrontotemporal_dementia,_ubiquitin-positive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119515589171742427732GA549747Benignnot_provided0.266880.282690.351440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119521289731742953409AG134420BenignGrowth_and_mental_retardation,_mandibulofacial...0.219510.174270.170530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119531289721742961009CT134419BenignGrowth_and_mental_retardation,_mandibulofacial...0.643090.569250.56050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119543691461742977073TG353375Likely_benignPrimary_ciliary_dyskinesia..0.276960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11955665081742989088CT77405BenignAlexander_Disease|not_provided0.156080.11630.140780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11956664261742993118GT77323not_providednot_provided..0.408350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11957981971744060859AG104089BenignFrontotemporal_dementia|not_specified|not_prov...0.041850.041270.027760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11958982111744074018GA104103Benign/Likely_benignFrontotemporal_dementia|not_specified|MAPT-Rel...0.043060.035950.032950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119593236871744103445TAGT328833BenignSyndromic_intellectual_disability|MAPT-Related.....0.202480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119603237271744105395AG344915BenignSyndromic_intellectual_disability|MAPT-Related.....0.614020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119613237641744109474GA346272BenignKoolen-de_Vries_syndrome|Syndromic_intellectua...0.346380.37750.31290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119626820291744116843CA669322Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119638034311744144993CG791785BenignKoolen-de_Vries_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119643692151744270181GA353444BenignSyndromic_intellectual_disability..0.318690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119651374871745000529GC141190BenignProgressive_myoclonic_epilepsy|not_specified0.300230.39610.37321|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119661932751745000547GC190439BenignProgressive_myoclonic_epilepsy|Epilepsy,_progr...0.95096.0.953671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119676688381745007207CG668034Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119686832781745007213AG668035Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119696688391745012087AG668880Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119706813571745012248TG669375Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119713238281745016412GGTGGCTTTGT346313Likely_benignProgressive_myoclonic_epilepsy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119723238301745016427TC338937BenignProgressive_myoclonic_epilepsy..0.93631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119733238371745017241GA338951BenignProgressive_myoclonic_epilepsy..0.3750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119743238461745017859AG328952BenignProgressive_myoclonic_epilepsy0.42072.0.411340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119753238551745018418CT346341Likely_benignProgressive_myoclonic_epilepsy..0.074680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
11976135581745360730TC28597Benign/Likely_benignPL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM|Myocardia....0.123540.088861|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119772555411745364540TC256225BenignGlanzmann_thrombasthenia|not_specified0.098190.102860.143970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119782555351745368337AC256226BenignGlanzmann_thrombasthenia|not_specified|not_pro...0.38505.0.431111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119792555361745369777AG256227BenignGlanzmann_thrombasthenia|not_specified0.283950.287140.287340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119802555371745369789GA256228BenignGlanzmann_thrombasthenia|not_specified0.283870.28730.287340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119812555381745377825TC256229Benignnot_specified0.083040.090570.120410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119823238841745388241CT346348Likely_benignGlanzmann_thrombasthenia..0.023560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119833238871745388283AG346364Likely_benignGlanzmann_thrombasthenia..0.12320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119843238911745388586TA346367BenignGlanzmann_thrombasthenia..0.723440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119856679521746019322CT669086Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119866679501746022330GA669090Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119876705941746022889CT669091Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119883239181746024660AC345064BenignPyridoxal_5'-phosphate-dependent_epilepsy..0.425521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119893239271746025052AG339061BenignPyridoxal_5'-phosphate-dependent_epilepsy..0.68771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119903239401746026156AG345069BenignPyridoxal_5'-phosphate-dependent_epilepsy..0.807911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119917688941746802008CG704194Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119923240081748067712CTC346473Likely_benignAmelogenesis_Imperfecta,_Dominant...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119933240131748067953TC329082BenignAmelogenesis_Imperfecta,_Dominant..0.653360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119945182621748151908TC508887BenignInterstitial_lung_disease,_nephrotic_syndrome,...0.885820.85530.762781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119952547191748243461GA256266Benign/Likely_benignnot_specified|not_provided0.045750.054450.028350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119966698381748243504CT668060Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119976843531748243736GA669391Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119986698401748245180CT669395Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
119992547181748245269CA256269Benignnot_specified|not_provided0.14224.0.12241|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120006700601748245547AG668895Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120016698411748246162GA669396Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120026700611748246231CT669400Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120036705461748246827CT669104Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120046698421748248267AT668904Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120053240721748262119GA339244Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_.....0.131190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120063240761748262181GGTGCT329121Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120073240931748262775AG345156Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_.....0.378590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120081979181748263021CT195079Benign/Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_...0.51030.58280.485021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120096748081748265426AG669404Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120102853621748265495TC269599Benignnot_specified0.970950.984790.978831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120116748071748266669GC668911Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120122549481748267291GC256272Benignnot_specified0.52492.0.541331|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120132549471748268223AG256273Benign/Likely_benignInfantile_cortical_hyperostosis|Ehlers-Danlos_...0.999850.999840.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120146748061748268626AG668913Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120156748051748269302GA669413Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120166748041748269426CT669418Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120176748031748271433AG669424Benignnot_specified|not_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120186748021748272055CT669115Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120196749781748273439TC669430Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120206748011748273464TC669118Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120216749771748274291TG668099Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120226749761748274309TC669438Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120236833501748276162CT668928Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120246833431748276252AG669441Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120252549491748276971GC256277Benignnot_specified0.553050.618740.518171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1202625331748437456CG17572BenignPseudoxanthoma_elasticum,_modifier_of_severity.....0.2511|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120273776171748653354CA378501Benignnot_specified0.374230.555420.523960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120282591161754921494AC256279Benignnot_specified0.69691.0.698281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120294031021756348230TG390232Benignnot_specified0.15478.0.149760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120304033851756492800TC390363Benignnot_specified0.328310.40480.37380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120313241731756769979CT345189Likely_benignFanconi_anemia|Breast_and_Ovarian_Cancer_Susce...0.1780.179670.158350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120323242191757184162AC329200BenignMulibrey_nanism_syndrome..0.611821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120333692171757184270AAG353446BenignMulibrey_nanism_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120343242411759533868GC339409BenignIschiopatellar_dysplasia0.11840.234440.180110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120353242491759534987TG346635BenignIschiopatellar_dysplasia|not_specified0.146470.187560.202680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120362610351759557600CT256297BenignIschiopatellar_dysplasia|not_specified0.222360.145450.213260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120373242621759560463CT345229BenignIschiopatellar_dysplasia0.106490.101930.115620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120383242801759561204GA345251BenignIschiopatellar_dysplasia..0.082470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120393242841759561584GT329230BenignIschiopatellar_dysplasia..0.323080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120403242921759757143AC346660Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.762181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120413242941759757169TA345269Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.342251/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120423243211759758416AG329244Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.119610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120432105331759758567CG208407Likely_benignNeoplasm_of_the_breast|Fanconi_anemia|not_spec.....0.392170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120443243221759758571GGACAG339477Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.387980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120453243351759760174GA329258Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.6260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120463243441759760499AG339494Likely_benignNeoplasm_of_the_breast|Fanconi_anemia..0.621810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120471837021759760996AG185195Benign/Likely_benignNeoplasm_of_the_breast|Neoplasm_of_ovary|Fanco...0.606040.594120.620810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120481337561759763347AG137495Benign/Likely_benignNeoplasm_of_the_breast|Neoplasm_of_ovary|Famil...0.613410.597220.62780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120491837031759763465TC185227Benign/Likely_benignNeoplasm_of_the_breast|Neoplasm_of_ovary|Fanco...0.734280.718790.81511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120506796681759820170CA669160Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120512620051759857809CG256299Benignnot_specified0.78588.0.789741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120522567991761559923CT256305BenignRenal_dysplasia|not_specified0.335690.449160.423520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120532568001761564052AG256306BenignRenal_dysplasia|not_specified0.443260.499890.529550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120542568021761565990GC256307Benignnot_specified0.439490.499650.529950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120552568011761565998AC256308BenignRenal_dysplasia|not_specified0.416190.499580.529950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120562568031761566031GA256309BenignRenal_dysplasia|not_specified0.560130.537260.643170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120572568041761573761TC256310BenignRenal_dysplasia|not_specified0.505310.523340.587460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120582568061761574492GA256312BenignRenal_dysplasia|not_specified0.491760.556180.581870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120593244351761575454AACT339581BenignRenal_dysplasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120603244381761575637AG329331BenignRenal_dysplasia..0.657950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120613692201761996204TC353449Likely_benignIsolated_growth_hormone_deficiency0.43079.0.363420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120624025201762007498AG390202Benignnot_specified0.659620.595170.56170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120633244741762016440GGCA339623BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120643244791762016727CCACACATATAT346754BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120653244941762017421AG339637BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka.....0.596050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12066928631762019103GT98770BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka...0.174540.163880.140180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120671302361762020348TC135683BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka...0.599340.523690.56150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120686693571762020701TTCCCTCCTCCCCGGGGACC669201Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120696842601762020838GA669463Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120706693561762020866AG668966Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120716693551762021374CT668157Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120726693531762023128CT668161Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120731676521762025238GT178051BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka...0.263650.315550.254390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120741302281762041068TC135675BenignParamyotonia_congenita_of_von_Eulenburg|Hypoka...0.915380.928840.944291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120756693521762041317GT668184Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120766842571762041558GT668195Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120776693511762041604AG668198Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120782558431762042078TC256326Benignnot_specified|not_provided0.801460.884280.808311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120796693491762043357CG668987Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120806842541762044195TC668991Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120816842531762044208AG669478Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120826693481762048467AG668204Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120832558561762049235AG256334Benignnot_specified|not_provided0.989070.987760.994811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120846713471762050513CT669482Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120856713441762050528TC669485Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120866679741762479273AC669214Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120873246301763525082AT345576BenignOligodontia-colorectal_cancer_syndrome..0.421730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120883246331763525300GT339829BenignOligodontia-colorectal_cancer_syndrome..0.083270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120896796671763529821CT668215Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120902595121763533423CA256352Benignnot_specified|not_provided0.157540.121860.174120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120912595101763533768GA256353BenignCarcinoma_of_colon|Oligodontia-colorectal_canc...0.540070.623640.446091/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120922595091763533789TC256354BenignOligodontia-colorectal_cancer_syndrome|not_spe...0.910880.91440.909741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120934962741763534478GA488007Benignnot_provided0.147620.118760.164140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12094160421764210757CA31081BenignAPOH_POLYMORPHISM0.32969.0.541530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120952608311766596463CT256360Benignnot_specified0.12906.0.169530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120965170561768096908AG506140Benignnot_specified..0.818491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120973248541768173731AG346989BenignAndersen_Tawil_syndrome|short_QT_syndrome|Fami.....0.580870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
120986676241770118699GA668254Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12099211641770118935CT34016BenignCamptomelic_dysplasia|not_specified|not_provided0.166310.193280.136580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121006676251770119245CG669563Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121013249221770120551AC339974BenignCamptomelic_dysplasia0.364520.401140.354430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121023249311770121339AG347054BenignCamptomelic_dysplasia..0.56110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121033249441770122108GA347097BenignCamptomelic_dysplasia..0.321090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121043249491770122505CTC339992BenignCamptomelic_dysplasia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121053249511771189182AG345723BenignCongenital_disorder_of_glycosylation0.537880.527690.525961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12106959171771192663GA101813BenignCongenital_disorder_of_glycosylation|not_speci...0.446790.49690.449481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12107959191771192873AG101815BenignCongenital_disorder_of_glycosylation|not_speci...0.448720.501340.451281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12108959111771196809AG101807BenignCongenital_disorder_of_glycosylation|not_speci...0.532140.523120.520971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12109959141771197748GA101810BenignCongenital_disorder_of_glycosylation|not_speci...0.53506.0.525361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12110959161771201675TC101812Benignnot_specified0.916270.944190.863621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121113250001772270423GAGCCGCGACCG345743BenignPrimary_ciliary_dyskinesia..0.382991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121123250011772270442AG340046BenignPrimary_ciliary_dyskinesia..0.631791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121132616481772281367AG256376Benignnot_specified0.954180.987460.961461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121142616401772306116CCTC256389Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121151631711772308319GA176498BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.770260.858060.740821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121162616451772308403GA256394Benignnot_specified0.774340.856830.722641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121172616461772308410CT256395Benignnot_specified0.864630.915380.840661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121183250401772913072TC329799Likely_benignRetinitis_pigmentosa-deafness_syndrome..0.213660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121193799951773257986CT376658Benignnot_specified0.659950.795850.657351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121203250621773269258GC345823Likely_benignAmish_lethal_microcephaly..0.536541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121211303271773269530AG135774Benign/Likely_benignAmish_lethal_microcephaly|not_specified|not_pr...0.869750.928980.900161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121221303331773269676CT135780Benign/Likely_benignAmish_lethal_microcephaly|not_specified|not_pr...0.503080.651680.530151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121231303301773279624AG135777Benign/Likely_benignAmish_lethal_microcephaly|not_specified|not_pr...0.936030.961670.889581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121243250691773285461AC347217Likely_benignAmish_lethal_microcephaly..0.861221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12125966731773512653GT102566BenignPontoneocerebellar_hypoplasia|not_specified|no.....0.543731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121261601331773513185CA169401Benignnot_specified.0.707370.455271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121271601231773518203GC169409BenignPontoneocerebellar_hypoplasia|Pontocerebellar_...0.54040.641410.444691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12128966701773518284GC102563BenignPontoneocerebellar_hypoplasia|not_specified|no...0.935030.871720.81431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121291601271773519413CT169413BenignPontoneocerebellar_hypoplasia|not_specified|no...0.66070.624130.56131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121302555421773750859CG256412BenignDeficiency_of_galactokinase|Epidermolysis_bull...0.36552.0.37721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121313252321773758832GA347287Conflicting_interpretations_of_pathogenicityDeficiency_of_galactokinase|not_provided0.000770.00056.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121322632401773824121TC256415BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.519480.484390.526160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121332632361773826406GC256419Benignnot_specified0.198260.18560.164140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121342632281773827205TC256423BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.493080.366630.49940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121353252551773830463GA345985Conflicting_interpretations_of_pathogenicityFamilial_hemophagocytic_lymphohistiocytosis|no...8e-05..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121362632221773830996CT256429Benign/Likely_benignFamilial_hemophagocytic_lymphohistiocytosis|no...0.206440.189740.157550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121372632471773836162CG256440BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.48408.0.490220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121382632291773839214GC256449Benignnot_specified0.22919.0.177120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121392632141773839366CT256451BenignHemophagocytic_lymphohistiocytosis,_familial,_...0.331160.252460.277360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121403253061773938356CCA347341Likely_benignPseudoneonatal_adrenoleukodystrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121413253201773938957CT346044BenignPseudoneonatal_adrenoleukodystrophy.0.576090.450680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121423253561773941955GA346060Likely_benignPseudoneonatal_adrenoleukodystrophy..0.109630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121433253611773942150AG346062BenignPseudoneonatal_adrenoleukodystrophy..0.469850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121443253651773942196CG347373Likely_benignPseudoneonatal_adrenoleukodystrophy..0.026561|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121452592231773949540GC256459BenignPseudoneonatal_adrenoleukodystrophy|not_specif...0.508690.642420.550720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121463254081774467204CT346095Likely_benignHowel-Evans_syndrome..0.018970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121473254551774475024GA347434BenignHowel-Evans_syndrome0.795250.878650.765181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121483254691774477620CT340410BenignHowel-Evans_syndrome0.124370.152460.149760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121493254991774541129AG340449BenignRetinitis_Pigmentosa,_Recessive.0.517530.478631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121505182641775303298TC508889BenignAmyotrophy,_hereditary_neuralgic0.862330.885270.918731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121515182661775401190GA508891BenignAmyotrophy,_hereditary_neuralgic.0.297240.296730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121523255981775495523AG346243BenignHereditary_Neuralgic_Amyotrophy_(HNA).0.037020.010780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121533256141775496460TC330319BenignHereditary_Neuralgic_Amyotrophy_(HNA)..0.432110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121544035481776130575AT390263Benignnot_specified0.5559.0.552320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121554035471776131070GA390212Benignnot_specified0.57650.534330.540340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121564035491776134828CA390381Benignnot_specified0.623020.581610.601840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121574026721776423097GA390396Benignnot_specified0.622480.744640.684511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121584026741776433898TC390282Benignnot_specified0.947150.985090.950881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121594026761776449505GC390285Benignnot_specified0.485160.517370.466450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121604026771776462770GA390401Benignnot_specified0.670020.731180.650161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121614026791776472768GA390269Benignnot_specified0.343480.274980.37560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121624026801776481693CG390288Benignnot_specified0.644830.671170.642370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121634026811776482432AG390405Benignnot_specified0.6351.0.654351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121644026841776491194GA390294Benignnot_specified0.212520.317010.237821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121654026851776496492AG390408Benignnot_specified0.856950.862510.929711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121664026861776497920CA390418Benignnot_specified0.642960.682290.738821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121674026871776498692CT390419Benignnot_specified0.862820.86520.930911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121684026881776503527GA390220Benignnot_specified0.32405.0.279351|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121694026891776503560CA390271Benignnot_specified0.10766.0.081270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121704026901776503593TC390223Benignnot_specified0.653980.573680.578470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121714026921776521121TC390224Benignnot_specified0.194610.223380.146970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121724026931776522785CT390305Benignnot_specified0.129140.152550.092450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121734026941776525565AG390274Benignnot_specified0.626560.590350.595051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121744026951776525759GC390276Benignnot_specified0.143090.165710.12640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121754026961776528591CT390422Benignnot_specified0.526250.510060.460660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121764026971776528790AG390281Benignnot_specified0.520750.523590.458870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121774026981776528831GA390287Benignnot_specified0.520530.529950.474240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121784026991776535948TC390292Benignnot_specified0.76415.0.738021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121794027001776556811CT390309Benignnot_specified0.298070.435510.347640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121804027011776557862TC390424Benignnot_specified0.95118.0.94011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121811668071778013724GC176025BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.99378.0.957271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121821628501778055758TG176509BenignPrimary_ciliary_dyskinesia|Ciliary_dyskinesia,...0.521050.488720.464261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121831787111778071052TC176648BenignPrimary_ciliary_dyskinesia|Glycogen_storage_di...0.7372.0.714261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121843257691778075462GC346306Likely_benignPrimary_ciliary_dyskinesia|Glycogen_storage_di.....0.118011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1218540201778078656GA19059Benign,_otherGlycogen_storage_disease,_type_II|Acid_alpha-g.....0.011580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12186924841778078709TC98393BenignPrimary_ciliary_dyskinesia|Glycogen_storage_di...0.731580.736680.714461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121876805901778079224GA669114Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121886802601778079305CG669116Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121896802631778079310TC668277Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121902553631778079509TG256515Benignnot_specified0.669150.675760.605631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12191924851778079544CG98394BenignGlycogen_storage_disease,_type_II|not_specifie...0.672690.675860.602841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12192924861778079597AG98395BenignGlycogen_storage_disease,_type_II|not_specifie...0.672540.674550.600841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12193924881778079669GA98397Benign/Likely_benignGlycogen_storage_disease,_type_II|not_specifie...0.672410.675990.602441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121946802651778081140TC669594Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12195924891778081526AAGCAGCGG98398BenignGlycogen_storage_disease,_type_II|not_specifie......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121961671111778081551TC177734Benignnot_specified0.66360.674070.601041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12197924911778081707GA98400BenignGlycogen_storage_disease,_type_II|not_specifie...0.690760.750260.604431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12198924611778082504GA98370BenignGlycogen_storage_disease,_type_II|not_specifie...0.670770.678440.602841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
121996805911778083475AG669364Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122006802691778083565GA669366Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12201924621778083726AG98371BenignGlycogen_storage_disease,_type_II|not_specifie...0.73020.731240.711661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122026802701778084306AG669602Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12203924641778084507GC98373BenignGlycogen_storage_disease,_type_II|not_specifie...0.670310.676040.603041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122042553521778084688CA256521Benignnot_specified0.669850.674830.599241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12205924661778084769GA98375Benign/Likely_benignGlycogen_storage_disease,_type_II|not_specifie...0.209370.230910.159551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12206924701778086846AG98379BenignGlycogen_storage_disease,_type_II|not_specifie...0.733360.744080.715061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122076805921778087428GA669119Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12208924741778090928GA98383BenignGlycogen_storage_disease,_type_II|not_specifie...0.819160.756990.789341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122096802611778091201AT669122Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12210924761778091405GA98385BenignGlycogen_storage_disease,_type_II|not_specifie...0.7332.0.711861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12211924811778092063GA98390BenignGlycogen_storage_disease,_type_II|not_specifie...0.6048.0.509391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122124956671778092195GA487921Likely_benignnot_provided0.003150.003440.0020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122136802721778092844CT669367Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122143258061778093549GT330474Likely_benignGlycogen_storage_disease,_type_II..0.155951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122154024841778162170GA390428Benignnot_specified0.29840.348060.301321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122164024851778171944GC390226Benignnot_specified0.35914.0.370210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122173258211778183936GA346328BenignSanfilippo_syndrome..0.448280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12218926101778184393CT98518BenignSanfilippo_syndrome|Mucopolysaccharidosis,_MPS...0.293940.359160.345850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12219926121778187954AG98520BenignMucopolysaccharidosis,_MPS-III-A|not_specified...0.46549.0.514180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122202555151778188963GA256542Benignnot_specified|not_provided0.549810.535590.556910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12221441511779478007GA53319Benignnot_specified0.316390.288240.18531/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12222441501779478019GA53318Benignnot_specified0.754580.790220.756191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12223441471779478916GT53315Benignnot_specified0.419370.498920.558910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122243258501779617534AG330578BenignRetinitis_Pigmentosa,_Recessive.0.555980.668730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122253258541779617705GA347773Likely_benignRetinitis_Pigmentosa,_Recessive.0.090390.070090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122263258571779617830GA346443Likely_benignRetinitis_Pigmentosa,_Recessive.0.100240.070090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122273258581779617871AG340825BenignRetinitis_Pigmentosa,_Recessive.0.562560.668730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122283258601779618059CT340827BenignRetinitis_Pigmentosa,_Recessive0.434180.474750.585060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122296695041779670122GA669126Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122307689221779687218GA704472Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122314979691779891147TC489393Benignnot_specified0.981470.995080.986021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122323259231779894886CT346454Uncertain_significanceCutis_laxa,_recessive...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122334029321780377690TG390333Benignnot_specified0.39966.0.481430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1223437566318673443TTTAAAGT362508drug_responsecapecitabine_response_-_Efficacy|fluorouracil_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12235260633182705700AG256625Benignnot_specified0.60830.685710.584671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12236260637182707619GA256629Benignnot_specified0.711530.693930.69031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12237260640182724930AT256632Benignnot_specified|not_provided0.32876.0.206271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12238260650182763697CT256639Benignnot_specified0.396540.372110.275761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12239260652182771516GT256641Benignnot_specified0.98220.994860.980431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12240326550182917357GA346757BenignMajeed_syndrome..0.545531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12241326612182919606AT331014BenignMajeed_syndrome..0.691291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12242260433182920288GA256646BenignMajeed_syndrome|not_specified0.247420.313060.362220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12243668717182922450TC669699Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12244676925182927023GT669708Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12245439863182937646AG433667BenignMajeed_syndrome0.29009.0.413540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12246676922182961033TA668327Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12247226828183067278AG230806Benignnot_specified|Cardiovascular_phenotype|not_pro...0.570650.56960.594450|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12248226826183075712CA230810Benignnot_specified0.591860.539870.62280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12249226825183075746GA230812Benignnot_specified|Cardiovascular_phenotype|not_pro...0.160370.21420.183510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12250226821183089522GT230819Benignnot_specified0.80730.809220.800321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12251226819183100429GA230821Benignnot_specified|Cardiovascular_phenotype|not_pro...0.366980.442240.348040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12252226815183126811AG230838Benignnot_specified|Cardiovascular_phenotype|not_pro...0.179580.199730.254391|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12253226796183176040CG230883Benignnot_specified|Cardiovascular_phenotype|not_pro...0.74563.0.757191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12254226830183188976AG230890Benignnot_specified|Cardiovascular_phenotype|not_pro...0.341330.437350.443291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12255674961183447871TC669466Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12256403532183452222CTC390317Benignnot_specified.0.329560.255590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12257777265183879181CT704599Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12258803471186997818AC791881BenignPoretti-Boltshauser_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12259803472187031986TTA791882BenignPoretti-Boltshauser_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12260803473187034508TG791883BenignPoretti-Boltshauser_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122619054189117867TC24093BenignParkinson_disease,_mitochondrial|Mitochondrial....0.800080.778950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12262678068189119156TC669645Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12263129703189119489AT135149Benign/Likely_benignMitochondrial_complex_I_deficiency|MITOCHONDRI...0.129810.084970.075080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12264369253189134354CG353482Likely_benignMitochondrial_complex_I_deficiency..0.075480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122652615271810691216GA256560Benignnot_specified0.377830.347810.31430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122662615261810691357GA256561Benignnot_specified0.295330.284530.201080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122672615251810696227CT256562Benignnot_specified0.320770.290750.219250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122682615101810741011GA256577Benignnot_specified0.842750.80040.843651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122692615091810748603AT256578Benignnot_specified0.65637.0.646971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122702615081810752666CT256579Benignnot_specified0.309240.265420.331871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122712615071810758023GA256580Benignnot_specified0.823920.796160.823081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122722615051810762962GA256582Benignnot_specified0.789090.784960.778951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122732615041810763007TC256583Benignnot_specified0.83640.80110.838061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122742615031810787047GA256584Benignnot_specified0.836770.853760.862421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122756263311811876613TG614665BenignDystonia_250.058510.06280.043930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122766779421812337688GC669627Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122776832111812343871AG669386Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122781282871812348285TC133736Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.779260.749250.709861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122791282861812351342CT133735Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.686150.720540.62321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122806832071812359215AT669388Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122811363121812359920GA140015Benignnot_specified|Spinocerebellar_Ataxia,_Dominant...0.684840.717670.619611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122823261261813882230GC346568BenignGlucocorticoid_Deficiency..0.50121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122833261451813883525TA340986BenignGlucocorticoid_Deficiency..0.521171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122843261741813883939CT346601BenignGlucocorticoid_Deficiency..0.506591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122853261751813884009GA330801BenignGlucocorticoid_Deficiency..0.341051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122863261881813884513CT346613BenignGlucocorticoid_Deficiency..0.214261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122873261891813884566CT346614BenignGlucocorticoid_Deficiency..0.504591/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122883261941813884981CT341049Conflicting_interpretations_of_pathogenicityGlucocorticoid_Deficiency|not_provided0.000310.00073.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122896781351819399738TA669668Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122906780671819423963GTG669672Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122914040601819752072TTACC403233Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122926840371820516374CA669410Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122936840381820516381CT669414Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122946739361820555219TC669415Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122956691071820562518GA669685Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122966704871820568937GA669686Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122976840451820577330GA669693Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122986733331820577456TA669695Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
122995588801821120381TTA549772Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123001939821821124907AAC191145Benign/Likely_benignNiemann-Pick_disease_type_C1|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12301927011821124945CG98608BenignNiemann-Pick_disease,_type_C|Niemann-Pick_dise...0.734660.717720.831670|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123021298111821148863AG135257Benign/Likely_benignNiemann-Pick_disease,_type_C|Niemann-Pick_dise...0.138090.144440.109820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123033262891821166545GC347983Likely_benignNiemann-Pick_disease,_type_C..0.090660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123044030251821413869TC390339Benignnot_specified0.649540.663130.62441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123054030261821437931GC390344Benignnot_specified0.517280.496240.343651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123064030271821441717CT390346Benignnot_specified0.503150.499540.340661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123072852441821494685AG269481Uncertain_significanceEpidermolysis_bullosa,_junctional|Laryngoonych...0.000310.0003.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123082555761821511089AG256613BenignEpidermolysis_bullosa,_junctional|Laryngoonych....0.9999811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123092555771821511172GC256614BenignEpidermolysis_bullosa,_junctional|Laryngoonych...0.96079.0.948881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123102555791821526087CT256616Likely_benignnot_specified0.546440.536320.359631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123112555801821529722GA256617BenignEpidermolysis_bullosa,_junctional|Laryngoonych...0.54460.537730.359031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123124028001828611139AC390307Benignnot_specified0.999920.9999811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123136721251828659724TC669745Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123146721241828660500AG668334Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123156834671828660611TC668344Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123166838431828663301GCGAGGCAGGAGAATCACAG669755Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123176721231828667964GA669220Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123186834681828669839CT669434Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123196721071828671212TG669225Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123206710901828673894AG668367Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123214028011828898294AG390348Benignnot_specified0.479930.434430.362620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123224028021828913599CT390312Benignnot_specified0.436490.434350.327680|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123233264161828956904CT348146Likely_benignLocalized_AR_Hypotrichosis0.141240.143150.121610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123243264181828968371GA346896BenignLocalized_AR_Hypotrichosis0.694330.745270.720651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123253264211828968959CT341369BenignLocalized_AR_Hypotrichosis0.778760.774270.804911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123263264411828986333AC331139BenignLocalized_AR_Hypotrichosis0.924340.920260.965861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123273264521828993183AG348172BenignLocalized_AR_Hypotrichosis0.391740.443020.393370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123283264581828993501CA341405BenignLocalized_AR_Hypotrichosis0.721930.723910.743211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123296834721829078516AC669769Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123306726091832346149GT669801Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123316834781832373716AT669803Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123326834791832373736AC669804Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123336711111832459704AG669509Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123346726621832461896AG668453Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123356726651832462365CT669840Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123366834851832462418CT669842Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123376726941832464945GC668454Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123381371811832470291GA140884Benignnot_specified.0.240610.266971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123391598841842456653GA169419Likely_benignnot_specified.0.507270.493010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123403267251842456670CCTCTT331273BenignSchinzel-Giedion_syndrome|not_specified0.53440.514580.493810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123411598851842529996GC169420BenignSchinzel-Giedion_syndrome|not_specified|not_pr...0.1853.0.156750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123421598751842533130AG169429BenignSchinzel-Giedion_syndrome|not_specified|not_pr...0.899590.877480.906951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123431598811842643426GA169435Conflicting_interpretations_of_pathogenicitySchinzel-Giedion_syndrome|not_specified.00.00060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123443267961842646634ATA347040BenignSchinzel-Giedion_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123456735021843481075GA656487Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123466800681843490602GA656488Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123474028331843497710AG390442BenignVici_syndrome|not_specified|not_provided0.479680.49090.426920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123486833341843666774TC669516Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123496833331843666786CT669518Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123503775341843669980TC375923Benignnot_specified0.409970.381620.315890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123516833261843670190TC668456Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123526833231843671400TC669523Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123536833221843672015TC669851Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123546833201843675364TC669525Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123556833191843678625GC668463Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123562625241844063718ACA256660Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.239660.26875.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123571783941844087489CT176692Conflicting_interpretations_of_pathogenicitynot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.001530.004650.00160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123581638951844087504GA176555Benign/Likely_benignnot_specified|not_provided0.00110.001440.00021|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123591910901844109033TC188895BenignDeafness,_autosomal_recessive_77|not_specified..0.620210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12360479341844126909TC57098Benign/Likely_benignDeafness,_autosomal_recessive_77|not_specified...0.771570.767510.694690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123616688691844682891CT669542Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123626754601844702502AC669552Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123633269241847349546AAT348441Uncertain_significanceDiarrhea_with_Microvillus_Atrophy...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123643269561847350753TC347141Uncertain_significanceDiarrhea_with_Microvillus_Atrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123653269571847350832AT348461Uncertain_significanceDiarrhea_with_Microvillus_Atrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123663269901847352533GA347160BenignDiarrhea_with_Microvillus_Atrophy..0.535340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123673270141847375932CG348523BenignCongenital_microvillous_atrophy|not_specified|...0.46357.0.354030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123683270251847398549GA348528Benignnot_specified|Diarrhea_with_Microvillus_Atrophy0.214510.253350.299920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123693270281847404124AG348529Benign/Likely_benignnot_specified|Diarrhea_with_Microvillus_Atrophy0.041710.059130.053120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123703270301847405304AG347190Benignnot_specified|Diarrhea_with_Microvillus_Atrophy0.20262.0.289740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123713270311847405425TTGAG347192Benignnot_specified|Diarrhea_with_Microvillus_Atrophy0.30170.342010.404750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123723270531847455923CT341822BenignCongenital_microvillous_atrophy|not_specified|...0.51370.483070.411340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123733270871847563299TC341861BenignCongenital_microvillous_atrophy|not_specified|...0.977210.993090.973441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123742625601847777244CT256670Benignnot_specified0.305060.300290.193490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123752625571847777358TA256673Benignnot_specified0.320240.296070.296530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123762625531847778172AG256676Benignnot_specified0.31850.319050.200880/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123776807831848572984GA668486Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123786770791848581601CA669334Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123796807841848593133GA669338Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123806807851848603403TC669342Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123813271751848609968AG347320BenignMyhre_syndrome|Hereditary_hemorrhagic_telangie.....0.202680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123823272081848610697CAAGAAC331704BenignMyhre_syndrome|Hereditary_hemorrhagic_telangie......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123833272111848610831AC347339BenignMyhre_syndrome|Hereditary_hemorrhagic_telangie.....0.37820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123847694431848723145CGCCGCCGCGC704620Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123853272281852889967TC347356BenignPitt-Hopkins_syndrome..0.397360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123863272311852890160AG341965BenignPitt-Hopkins_syndrome..0.443690|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123873272441852890946TTTC348698BenignPitt-Hopkins_syndrome...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123883272461852891178AG341976Likely_benignPitt-Hopkins_syndrome..0.00240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123893272681852892561GACTG348735Likely_benignPitt-Hopkins_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123903272851852893504ATA342011BenignPitt-Hopkins_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123913272871852893926GGA342018BenignPitt-Hopkins_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123923272931852894479CCAA342031BenignPitt-Hopkins_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12393935441852895531TC99449BenignPitt-Hopkins_syndrome|History_of_neurodevelopm...0.364680.371360.342450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123946708161852896000AG668503Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123956708151852896003AG669348Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123966686531852896630GT669558Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123976722261852901607AG669561Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123986706871852922000TC669572Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
123996707031852924317CG669353Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124006732421852924695CT669584Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124016722251852927400TC668507Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124021600891852942827GA169448Benignnot_specified|not_provided0.533450.489250.570290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124031600831853070914GA169454Benignnot_specified|not_provided.0.217290.192290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124046798551853177670TC669880Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124056749571853177740AT668513Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124066749561853177774GC669372Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124076749551853178061GA668520Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124088034981853303101CG791872BenignPitt-Hopkins_syndrome...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124093273161855212316GT348769BenignProtoporphyria,_erythropoietic,_1..0.228631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124103273281855213058AC342067BenignProtoporphyria,_erythropoietic,_1..0.174920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124113273351855213381CA347443BenignProtoporphyria,_erythropoietic,_1..0.765381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124123273661855215119TC331802BenignProtoporphyria,_erythropoietic,_1..0.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124133273731855215418AG348807BenignProtoporphyria,_erythropoietic,_1..0.99921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124142553121855221648TC256682BenignProtoporphyria,_erythropoietic,_1|not_specified0.764650.702970.757590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124152553111855226383GC256683BenignProtoporphyria,_erythropoietic,_1|not_specified0.76365.0.74960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124163274341855240505CT331897BenignProtoporphyria,_erythropoietic,_10.121410.102910.051720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124175501855247454GA15589BenignJaundice|Erythema|Protoporphyria,_erythropoiet...0.2588.0.334671|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124183274401855313783AT347495BenignProgressive_familial_intrahepatic_cholestasis..0.147160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124193274451855314466AG342149BenignProgressive_familial_intrahepatic_cholestasis..0.147360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124203274491855314820CA331916BenignProgressive_familial_intrahepatic_cholestasis..0.466050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124212598231855315959GA256688BenignProgressive_familial_intrahepatic_cholestasis|...0.181160.230620.140580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124222598281855362532TG256696BenignProgressive_familial_intrahepatic_cholestasis|...0.9897.0.992611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124232598271855364830GA256697Benignnot_specified0.411810.476260.442090|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124242598261855364852AG256698BenignProgressive_familial_intrahepatic_cholestasis|...0.99308.0.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124252259961855816791GA227795drug_responsediuretics_response_-_Efficacy|hydrochlorothiaz...0.340340.284080.276160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124264170011855996244CT402844Benignnot_provided0.004040.004120.00120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124273275141856934863GCCG347559Likely_benignAnophthalmia_-_microphthalmia...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124283275191856934917GA348931Likely_benignAnophthalmia_-_microphthalmia..0.214460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124293275211856934964CT342194Likely_benignAnophthalmia_-_microphthalmia..0.205670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124303275391856995396AG348942BenignCombined_deficiency_of_factor_V_and_factor_VII.....0.326080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124312597931857000303GA256703Benignnot_specified0.349530.316330.356030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124323275831857098195GT342223BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.792731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124333275881857098344CT342225BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.821091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124343275911857098391GA348981BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124353275941857098636CG347639BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.44010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124363275961857098713TGT348983BenignHennekam_lymphangiectasia-lymphedema_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124373275971857098742GT342230BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.859631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124383276031857099335AG348991BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.859031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124393276201857100187GGT342242BenignHennekam_lymphangiectasia-lymphedema_syndrome_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124403276331857100410TC347684BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.43490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124413276391857100768GA349014BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.855231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124423276401857100779CT347693BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.540541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124433276451857100898AG347695BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.852641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124443276461857100913CT332078BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.851241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124453276551857101120GA342260Likely_benignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.093651|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124463276831857102326AC332119BenignHennekam_lymphangiectasia-lymphedema_syndrome_1..0.301320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124472623491857103126GA256709Conflicting_interpretations_of_pathogenicityHennekam_lymphangiectasia-lymphedema_syndrome_...0.009760.010040.006990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124482623551857115203TC256712BenignHennekam_lymphangiectasia-lymphedema_syndrome_...0.610490.531080.540940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124492623531857134152AG256714Benignnot_specified0.95410.98730.956271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124502623521857136869AG256715Benignnot_specified0.455020.4530.432310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124518035051857136943GA791879BenignHennekam_lymphangiectasia-lymphedema_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124522259611857851097TC227796drug_responseantipsychotics_response_-_Toxicity/ADR..0.240020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124532260031857882787CA227797drug_responseamisulpride_response_-_Toxicity/ADR|aripiprazo.....0.351240|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124545182811859805532TC508906BenignHistory_of_neurodevelopmental_disorder|Multipl....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124552591771859992547GA256719Benign/Likely_benignOsteopetrosis|Paget_disease_of_bone|not_specified..0.236821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124561932591859992577TC190423Benign/Likely_benignOsteopetrosis|Paget_disease_of_bone|not_specified.0.1250.235021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124572591831860036083AG256723Benign/Likely_benignOsteopetrosis|Paget_disease_of_bone|not_specified0.953480.956220.980831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124586841561867671745TC669610Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124596841551867672139TC669881Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124601301881867718688AG135635Benignnot_specified0.802690.918440.790741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124616841541867741490GC669616Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124626704931867788599TC668532Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124636841351867857478TA669622Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124646841341867858249TC669890Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124653277611867863850TTCTC349148Benignnot_specified|Disease_Association_NOS|not_prov......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124661301791867871343AC135626Benignnot_specified0.72727.0.712261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124671308211872343008TC136266Likely_benignnot_specified0.998750.989830.993611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124681308261872776121GA136271Likely_benignnot_specified0.761510.832190.760381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124693277741872922851AGA,AGGG349158BenignAural_atresia,_congenital...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
124703277781872922958AAG332189Uncertain_significanceAural_atresia,_congenital...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124711932921877440128TG190456Benignnot_specified.0.679240.655350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124722595241877470834CT256726Benignnot_specified..0.735020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124738035071877488698GGTGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCA791884BenignCongenital_Cataracts,_Facial_Dysmorphism,_and_......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
124741288651877513721TC134313BenignCongenital_Cataracts,_Facial_Dysmorphism,_and_...0.896430.966570.895171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247577307519804921CT705350Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247666782019851976GA670430Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247713719919855966CA140902Benignnot_specified0.13142.0.048520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247840253219860852GC390449Benignnot_specified0.540520.591380.44090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1247928652419917526AG270761Benignnot_specified|not_provided0.121230.259110.18630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1248044766019920642TA442261Benignnot_specified.0.782710.783951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12481328217191206602CT332571Likely_benignPeutz-Jeghers_syndrome..0.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12482256203191207238GT256769Benignnot_specified0.229510.324740.353440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12483256205191219274GA256771Benignnot_specified0.423640.466050.530150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12484256206191219443GGCGGGGGC256772Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12485328243191228191TC332606BenignPeutz-Jeghers_syndrome..0.707870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12486671566191384246CT668709Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12487683138191388320GA670152Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12488129702191388538CT135148Likely_benignLeigh_syndrome|Mitochondrial_complex_I_deficie...0.540620.550220.455671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12489684336191391327CT669861Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12490683141191391361AG669623Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1249121067191399056CT33919BenignDeficiency_of_guanidinoacetate_methyltransfera...0.152930.129420.113220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12492440243191438865CT433894Benignnot_specified0.048590.087280.049320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12493430490191496404GA422250Uncertain_significancenot_provided0.000850.000830.00040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12494381531192251247AG377366Benign/Likely_benignPersistent_Mullerian_duct_syndrome|not_specifi....0.008390.004790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12495518297192251512TA508922BenignPersistent_Mullerian_duct_syndrome.0.822570.918931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1249646571193586543GA55736Benignnot_specified0.259650.146780.226840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12497682948193589413TC669896Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1249846572193589435CT55737Benignnot_specified0.2322.0.204470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12499263264193595032CT256888Benignnot_specified0.407660.423640.329671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12500263269193595794AG256889Benignnot_specified0.703160.598170.541731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12501263267193600198CT256891Benignnot_specified..0.053710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12502328952193769753GA343371BenignMacular_degeneration|Cone-Rod_Dystrophy,_Dominant..0.816890/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12503329155193924771ATA333494BenignCerebellar_ataxia,_Cayman_type...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12504329196193927176AG333507BenignCerebellar_ataxia,_Cayman_type..0.832870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12505128959193977486AG134406Benignnot_specified|not_provided0.853480.849850.913141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12506128958193979408AG134405Benignnot_specified|not_provided0.853530.849270.913141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12507561820194094775GA553028Benignnot_provided..0.454470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1250840835194099187TC49305BenignCardiofaciocutaneous_syndrome_4|not_specified|...0.744130.771760.773560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1250940816194101062GT49286BenignCardiofaciocutaneous_syndrome_4|Rasopathy|not_...0.417940.547170.433310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12510561536194102132AC553038Benignnot_provided..0.330070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12511561366194117290TC553042Benignnot_provided..0.795531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12512403542194818378TC390426Benignnot_specified0.731510.66520.725640/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12513242770195844792AC32755....0.25280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12514768957195866736TC705303Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12515330240195903807GT349414Likely_benignMitochondrial_complex_I_deficiency.0.674980.681510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12516330244195903936TC334435Likely_benignMitochondrial_complex_I_deficiency.0.748870.726640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12517330250196494502TC344317BenignDystonia|Leukodystrophy,_hypomyelinating,_6..0.401560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12518330285196681991GA349446BenignMacular_degeneration|C3_deficiency|Atypical_he...0.086960.085250.091250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12519330310196707129GA350452Likely_benignMacular_degeneration|C3_deficiency|Atypical_he...0.002620.002090.00080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12520403601196821625CT390471Benignnot_specified0.145630.127020.092851/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12521403602196822219TC390329Benignnot_specified0.221430.260940.211261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12522330380197114288CT350496BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_.....0.717651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12523330433197116778TGT350526BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12524330436197116963TC334616BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_.....0.87741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1252514707197125518CT29746Conflicting_interpretations_of_pathogenicityDiabetes_mellitus_type_2|Insulin-resistant_dia....0.0090.004990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12526439832197166138GA433296Benignnot_specified0.202060.239240.204270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12527198697197166376CT195858BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_...0.22551.0.244810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12528439831197167951TG433297Benignnot_specified0.23143.0.24780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12529439830197170517AG433299Benignnot_specified0.541830.472210.549720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12530193063197293898GC190228BenignLeprechaunism_syndrome|Pineal_hyperplasia_AND_....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12531261324197593589CT257262Benign/Likely_benignMucolipidosis_type_IV|not_specified|not_provided0.301860.287450.255590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12532129977197606908GC135423Benign/Likely_benignnot_specified|Spastic_Paraplegia,_Recessive|no...0.17815.0.118410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12533330520197607441CT344527Benign/Likely_benignnot_specified|Spastic_Paraplegia,_Recessive0.345120.281370.243810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12534330522197607564TC334701Benignnot_specified|Spastic_Paraplegia,_Recessive|no...0.699640.638550.694490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12535129978197615903GA135424Benign/Likely_benignnot_specified|Spastic_Paraplegia,_Recessive0.232160.21360.202080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12536380864197619760AC379673Benignnot_specified0.356390.36880.347050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12537380865197620116AG376888Benignnot_specified0.359050.392490.346850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12538680709197620914AG668986Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12539378402197621475TG376892Benignnot_specified0.1780.129770.12560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12540680710197623474TC670169Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12541667947197623621TTTCTC670093Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12542240699197623941GA243570Conflicting_interpretations_of_pathogenicitySpastic_paraplegia_39|not_specified|Spastic_Pa...0.01030.010980.004190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12543680711197624335CT670174Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12544429198197626013ACA422303Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12545683454197694393GA668992Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12546683460197695977CG670177Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12547683462197696138GA670415Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12548403501197698320CT390372Benignnot_specified0.298940.390250.24780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12549260104197703605CT257265BenignFamilial_hemophagocytic_lymphohistiocytosis|no...0.426570.404370.482430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12550260087197710040TC257278Benignnot_specified0.419430.393180.526960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12551260088197710210AG257280Benignnot_specified0.425430.461960.516370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12552260089197711221TC257281BenignFamilial_hemophagocytic_lymphohistiocytosis|no...0.415560.462640.504190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12553260092197712161CT257284Benignnot_specified0.101170.105680.056110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12554260094197712277AG257286BenignFamilial_hemophagocytic_lymphohistiocytosis|He...0.667310.635160.706070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12555260100197712425GC257290Benignnot_specified0.344130.358220.31570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12556260102197712585TG257292Benignnot_specified0.66639..0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12557137647197992976TC141350Benignnot_specified|not_provided0.032450.030770.014180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12558137657198000045CT141360Benignnot_specified0.270460.261280.172720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12559508144198612914GA508029Benignnot_specified0.070630.085490.12840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12560518307198645786AC508932BenignWeill-Marchesani_syndrome_1|not_provided0.999850.999890.99981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12561330587198651562AG349596BenignWeill-Marchesani_syndrome|not_provided0.217280.208340.18470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12562330610198669931GC344604BenignWeill-Marchesani_syndrome|Weill-Marchesani_syn...0.78170.79940.893971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125637708061910084460AG705381Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125641807251910218030CT178886associationCataplexy_and_narcolepsy..0.665541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125651807271910222195AG178887associationCataplexy_and_narcolepsy..0.62241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125661807281910226052GA178888associationCataplexy_and_narcolepsy..0.655551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125671807301910227010AG178889associationCataplexy_and_narcolepsy..0.643171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125686805531910253184AG669651Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125696812951910257245GA669394Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125702575381910265248TC256731Benignnot_specified|Dementia,_Deafness,_and_Sensory_...0.488240.517970.533351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125712575371910265312TC256732Benignnot_specified|Dementia,_Deafness,_and_Sensory_...0.9897.0.995811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125722575361910267077TC256733Benignnot_specified|Dementia,_Deafness,_and_Sensory_...0.491160.518760.533951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125733279141910270746GAAGA,G332327BenignDementia,_Deafness,_and_Sensory_Neuropathy...1|2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
125741371331910273372TC140836Benignnot_specified|Dementia,_Deafness,_and_Sensory_...0.086270.131960.198280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125756793191910279189TC669428Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125766793181910284778AG669912Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125775060851910334663TG497508Benignnot_specified0.6327.0.551921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125783800381910426422AC377003Benignnot_specified0.468750.567550.492810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125793800371910426628TC379161Benignnot_specified0.513620.489370.492810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125806733011910463480CG668546Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125816733001910464687AG668547Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125826777271910467565CT669437Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125831378681910468668CG141571Benign/Likely_benignnot_specified|Familial_Atypical_Mycobacteriosi...0.123120.121950.096450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125842590411910472933AG256741Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.526450.508210.533151/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125851378651910473138AG141568Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.273050.321710.329870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125866732991910473392GA669946Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125876771501910473570TG669654Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125881378641910475649CT141567Benign/Likely_benignnot_specified|Familial_Atypical_Mycobacteriosi...0.057740.064020.043730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125892590401910475652CA256742Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.224590.276840.265781|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125903279651910490402AG342535BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_R.....0.178710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125912568661910883126CG256744Benignnot_specified0.566350.552780.557111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125922108551910887762GGCCTCTGA208503Likely_benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125936793111910897613GA669952Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125946793121910904689GC669670Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125956765201911129600CT668593Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125966765211911134090AG669691Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125972267101911221454TC230979Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia_1|not_specified|....0.9999311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
125982519971911227554CT246298Benign/Likely_benignFamilial_hypercholesterolemia_1|not_specified0.111030.115840.088860/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12599364601911231203GA45123Conflicting_interpretations_of_pathogenicityFamilial_hypercholesterolemia|Familial_hyperch...0.0090.006940.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126002522621911233941AG246555Benign/Likely_benignFamilial_hypercholesterolemia_1|not_specified0.738740.776210.780150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126012522771911238548AG246570Likely_benignFamilial_hypercholesterolemia_1..0.856631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126022659071911238807CT260662BenignFamilial_hypercholesterolemia_10.220440.247610.231830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126032659081911241877GA260663BenignFamilial_hypercholesterolemia_10.22208.0.234030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126042659101911242044GA260665Benign/Likely_benignFamilial_hypercholesterolemia_10.2170.246390.233630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126053280581911242307GC332460Likely_benignFamilial_hypercholesterolemia_1.0.842430.7521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126063280641911242496GA349296Likely_benignFamilial_hypercholesterolemia_1..0.31150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126073280701911242658TC348008Likely_benignFamilial_hypercholesterolemia_1..0.637180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126083280721911242765AG332467Likely_benignFamilial_hypercholesterolemia_1..0.234430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126093280861911243160GA349320Likely_benignFamilial_hypercholesterolemia_1..0.234430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126103280891911243223TCTAT349323Likely_benignFamilial_hypercholesterolemia_1...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126113280911911243254TC332482Likely_benignFamilial_hypercholesterolemia_1..0.800921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126123280951911243328CG342679Likely_benignFamilial_hypercholesterolemia_1..0.234230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126133280971911243346TC348015Likely_benignFamilial_hypercholesterolemia_1..0.163741|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126143280991911243368TC348025Likely_benignFamilial_hypercholesterolemia_1..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126153281011911243422CT349330Likely_benignFamilial_hypercholesterolemia_1..0.110420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126163281021911243445AG349331Likely_benignFamilial_hypercholesterolemia_1..0.259380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126173281031911243502TC342685Likely_benignFamilial_hypercholesterolemia_1..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126183281041911243592GT332486Likely_benignFamilial_hypercholesterolemia_1..0.234230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126193281221911244187TTAT342698Likely_benignFamilial_hypercholesterolemia_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126205182831911319491GA508908BenignAdams-Oliver_syndrome_20.489530.538650.441691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126215182851911326119AG508910BenignAdams-Oliver_syndrome_20.57521.0.50081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126225182861911326125CT508911BenignAdams-Oliver_syndrome_20.527730.556470.452681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126235182871911327571CT508912BenignAdams-Oliver_syndrome_20.365920.403510.278360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126245182881911327608TC508913BenignAdams-Oliver_syndrome_20.68043.0.593451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126255182891911327626AG508914BenignAdams-Oliver_syndrome_20.663250.643570.579471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126265182901911332570TA508915BenignAdams-Oliver_syndrome_20.28553.0.31350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126272613591911358799GA256758BenignAdams-Oliver_syndrome_2|not_specified0.55240.64660.519570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126282613561911363146AT256759BenignAdams-Oliver_syndrome_2|not_specified0.607840.696640.591251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126292625671911541712TC257300Benignnot_specified0.936550.963420.912341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12630940781911558240TC99980BenignPolycystic_liver_disease_1|not_specified0.992310.99220.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12631940801911558340AGAGGAGA,AGAG99982Benignnot_specified...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
126326843801912760511TC670033Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126336843791912760664TC669713Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126346843781912762783TC669716Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126356843761912763432AC668607Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126366843751912766370GA669539Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126375588611912768391GA549786Benignnot_provided0.544050.531050.367811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126386843731912771823AG670038Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12639932071912772090CT99114BenignDeficiency_of_alpha-mannosidase|not_specified|...0.36983.0.24841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12640932181912772165GA99125BenignDeficiency_of_alpha-mannosidase|not_specified|...0.45356.0.327881/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126416843721912772263TC669718Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12642932171912774208GC99124BenignDeficiency_of_alpha-mannosidase|not_specified|...0.318550.256650.239420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126436843711912774862GA669722Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126442600011912996740AG256779BenignCongenital_dyserythropoietic_anemia|not_specified0.270490.439210.444290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126452085041913010520AG205029BenignGlutaric_acidemia|Glutaric_aciduria,_type_10.638890.613020.720450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126466680521913319314CG669540Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126476680511913321122AC668613Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126483880181913322955GT379328Benign/Likely_benignHistory_of_neurodevelopmental_disorder|not_spe...0.00064..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126496781961913324818GA669548Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126506781951913324862CT669549Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126516680501913325733CT669747Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126526781931913335432GA668623Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126536687781913337966GA669756Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126546781821913345526GA668641Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126556781791913356150TG669789Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126566800631913386860CT668657Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126576800601913394337AG668658Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126586800591913395726CT669571Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126596800581913397945TC668661Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126606800571913410235GT669792Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126616800561913410379GA669579Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126622575101913411482GA256786Benignnot_specified0.645230.749090.739221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126636800551913418707CT670110Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126646680291913444874CT668686Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126656680281913444891CG670125Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126666781701913445144CT669844Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12667935591913445208CT99464BenignHistory_of_neurodevelopmental_disorder|not_spe...0.64370.685680.641170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126686680271913445573GA668687Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126696781691913446966TC669849Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126706781681913616693CT668704Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126711286191914038791CT134068BenignHistory_of_neurodevelopmental_disorder|not_spe...0.193520.210380.1250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126721567151914877799GC166575not_providednot_provided0.318750.22187.0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126733283571915270583GA332715BenignCerebral_autosomal_dominant_arteriopathy_with_.....0.62381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126743283601915270665CT349437BenignCerebral_autosomal_dominant_arteriopathy_with_.....0.62381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126753283611915270805CA342885BenignCerebral_autosomal_dominant_arteriopathy_with_.....0.62341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126763283631915270910AG332719Likely_benignCerebral_autosomal_dominant_arteriopathy_with_.....0.010980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126772561521915271771GA256792BenignCerebral_autosomal_dominant_arteriopathy_with_...0.73490.759070.629391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126788110111915273248AC800100Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126792561451915273381AG256798BenignCerebral_autosomal_dominant_arteriopathy_with_...0.92327.0.869011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126808110101915276143CT800101Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126812561411915276919GA256802Benignnot_specified0.922190.871720.866611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126828110081915276923CT800102Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126832561401915278057AG256803BenignCerebral_autosomal_dominant_arteriopathy_with_...0.923650.874070.870011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126848110071915281386CA800103Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126852561381915285052TC256805BenignCerebral_autosomal_dominant_arteriopathy_with_...0.926140.881240.871811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126868110051915289613AT800107Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126878110061915290125GA800109Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126888110091915292366CT800112Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126892561301915292437TC256812BenignCerebral_autosomal_dominant_arteriopathy_with_...0.790490.801930.739021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126902561291915295134GA256813BenignCerebral_autosomal_dominant_arteriopathy_with_...0.566430.642740.519971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126912561201915299051GA256822Benign/Likely_benignCerebral_autosomal_dominant_arteriopathy_with_...0.015540.020720.003590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126922561181915300069TC256823BenignCerebral_autosomal_dominant_arteriopathy_with_...0.889050.857230.854231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126932561171915300136AG256824Benign/Likely_benignCerebral_autosomal_dominant_arteriopathy_with_...0.031520.025570.015180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126942561481915302844TC256825BenignCerebral_autosomal_dominant_arteriopathy_with_...0.889280.858120.855831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126953284411915651539GCCG348283BenignCongenital_ichthyosiform_erythroderma...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126963284521915662465TG342948BenignCongenital_ichthyosiform_erythroderma..0.830270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126973284541915662544CA348301BenignCongenital_ichthyosiform_erythroderma..0.512180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126983284581915662732CA349507BenignCongenital_ichthyosiform_erythroderma..0.415740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
126997704601915905468TG704825Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127007704621915918500GA704830Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127012259691915990431CT227800drug_responsewarfarin_response_-_Other|acenocoumarol_respon...0.225430.272580.236820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127024965491916591464GA487993BenignFamilial_hypertrophic_cardiomyopathy_19|not_sp...0.65393.0.650560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127034965481916593573GA488044BenignFamilial_hypertrophic_cardiomyopathy_19|not_sp...0.169770.149150.144570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127044965471916601168GA487994BenignFamilial_hypertrophic_cardiomyopathy_19|not_pr...0.129560.122060.114020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127054965461916601194CT487995BenignFamilial_hypertrophic_cardiomyopathy_19|not_sp...0.6680.701450.658950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127066699421917450578CT668721Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127076725491917451599TC669873Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127081376011917952185GT141304Benignnot_specified|Severe_Combined_Immune_Deficiency0.118990.161580.113820|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127092561991918001686GA256834Benign/Likely_benignThyroid_dyshormonogenesis_1|not_specified|Thyr...0.198520.17950.12461|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127103285481918004912TC349547Likely_benignThyroid_Hormonogenesis_Defect..0.151960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127113285721918170384GA343055BenignFamilial_Atypical_Mycobacteriosis,_Autosomal_R...0.284850.309020.18630|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127123285871918180413CG332869Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.27264.0.25160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127133285881918180451AG348404Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.293410.289420.268570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127143285961918186575GA348413Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.25404.0.229830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127153285971918186618TC343076Benign/Likely_benignDisseminated_atypical_mycobacterial_infection|...0.253190.277130.229430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127163285991918191664CG348415Benignnot_specified|Familial_Atypical_Mycobacteriosi...0.094960.118540.129990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127174970791918272190AC488503Benignnot_specified.0.896060.923921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127188035461918273047TC791917BenignMegalencephaly-polymicrogyria-polydactyly-hydr......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127195182941918279638TC508919BenignMegalencephaly-polymicrogyria-polydactyly-hydr...0.851070.880.862421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127204683231918280096GA469943BenignMegalencephaly-polymicrogyria-polydactyly-hydr...0.036690.043590.019570|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127212551211918895218GA256838Benignnot_specified0.292390.271950.198681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127222551191918895865CT256840Benign/Likely_benignPseudoachondroplastic_spondyloepiphyseal_dyspl...0.053130.049550.019570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127232551181918901618CG256843Benignnot_specified0.149430.12230.114420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127243286351919303185GA332938Likely_benignMHC_Class_II_Deficiency..0.06310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127253286421919307797CT332953Conflicting_interpretations_of_pathogenicitynot_specified|MHC_Class_II_Deficiency0.045590.052270.028750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127263286571930190101GT348470Likely_benignNeurodegeneration_with_brain_iron_accumulation_4..0.101240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127273286721930190522AAC349599BenignNeurodegeneration_with_brain_iron_accumulation_4.0.689350.664940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127283286741930190658AG332984BenignNeurodegeneration_with_brain_iron_accumulation_4.0.694130.68710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127293286921930191933AG333006BenignNeurodegeneration_with_brain_iron_accumulation_4.0.695970.709670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127303287061930192474CT349620Likely_benignNeurodegeneration_with_brain_iron_accumulation_4.0.136050.101440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127313287121930192599GT348512BenignNeurodegeneration_with_brain_iron_accumulation_4.0.554660.617610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127323287141930192738CT349622BenignNeurodegeneration_with_brain_iron_accumulation_4.0.676660.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127331285371930193721GA133985BenignNeurodegeneration_with_brain_iron_accumulation...0.752040.6670.613820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127343287401933321447AG333045Likely_benignCystinuria..0.174920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127353287471933333155GA333057Likely_benignCystinuria0.234510.205870.24820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127363287541933353041GA349637Likely_benignCystinuria0.329770.297280.278161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127373287551933353061GT333073Benign/Likely_benignCystinuria0.329690.297110.278161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127383287561933353357CT343180Likely_benignCystinuria0.104950.106410.072280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127393287591933353464GA333077Likely_benignCystinuria0.333690.30050.279951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127403287601933354992AG349639Likely_benignCystinuria0.112640.113020.080870|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127413287611933355055AG343185Likely_benignCystinuria0.357140.309830.306111|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127423287621933355069AG348553Likely_benignCystinuria0.10526.0.072280|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127433287631933355081GA333082Likely_benignCystinuria0.230740.194170.211461|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127443287741933360652AT333089BenignCystinuria..0.539741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127453287761933877912GGAAAGT343197BenignProlidase_deficiency...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127463287771933878039AG343199BenignProlidase_deficiency..0.281350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127473287811933878198AG348563BenignProlidase_deficiency0.29037.0.258390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127483287911933878837GA348567BenignProlidase_deficiency|not_specified0.290090.336560.278360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127493287991933882222GA343220BenignProlidase_deficiency|not_specified0.10570.148440.098440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127506838081935523119TA669637Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127516738761935524266CTC669657Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127521389981935524824TC142701Benignnot_specified|not_provided0.42140.426180.37760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127536838091935525253TC668731Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127546838111935525322AC669661Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127552595001936342212CT256879Benign/Likely_benignFinnish_congenital_nephrotic_syndrome|not_spec...0.2332.0.291930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127561931501936486445GC190315Benignnot_specified.111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127572270911936497358CG231000Benignnot_specified0.963940.927380.912741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127581379091936549690CT141612Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2|not...0.15354.0.12560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127596702761936558113TC668738Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127606702771936562292GA668739Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127616708611936564653CT670181Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127626702781936574361AG668743Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127631602521936575645GA169493Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2|not...0.15354.0.1250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127641602541936577550GA169494Benignnot_specified|not_provided0.065610.091450.056510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127656702801936581987TC670185Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127666675881936582668CG669682Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127671602651936584904CT169504Benignnot_specified|not_provided0.154390.178860.1250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127681602691936590329TC169508Benign/Likely_benignPrimary_autosomal_recessive_microcephaly_2|not...0.673460.642560.654150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127696774661936590692GA669710Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127701603011936595436AC169537BenignPrimary_autosomal_recessive_microcephaly_2|not...0.749040.742790.716250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127717891191937368535GC716399Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127726771991938375666CT656528Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127736771981938376103AG656529Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127746771971938376485TA656530Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127756771961938377564TC656532Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127766771951938378539GC656535Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127776771941938379446CT656537Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127786771931938382328CT656538Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127796771921938384421CG656540Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127806772351938573139GT656542Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127816772111938652993CT656547Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127821331311938924814TC136878Benignnot_provided..0.806911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12783932771938935280AG99184Benign/Likely_benignMalignant_hyperthermia_susceptibility|Myopathy...0.603030.60740.543331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127842565311938935350TTC256905Likely_benignnot_specified|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127856807561938936836CT670195Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12786932431938939408TC99150BenignMalignant_hyperthermia_susceptibility|Myopathy...0.8952.0.903951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127871330081938939505TC136756Benignnot_provided0.982670.983240.994611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127886691611938942714GA669746Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127891330641938943728GA136812Benignnot_provided..0.572281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127906691641938945640AG668796Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127911330651938945851TC136813Benignnot_specified|not_provided0.892360.879950.901961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12792932581938946182GA99165BenignMalignant_hyperthermia_susceptibility|Myopathy...0.632090.636560.571291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127931331071938946215GC136854Benignnot_specified|not_provided0.63286.0.571891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127941331101938948356TC136857Benignnot_provided..0.583871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127956807571938949505CT670217Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127961331131938949729TG136860Benignnot_provided..0.555111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12797932591938949904CT99166BenignMalignant_hyperthermia_susceptibility|Myopathy...0.617020.621130.554111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127981331151938950947CT136862Benignnot_provided..0.553711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
127996691711938953996AG668799Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12800932611938956803GA99168BenignMalignant_hyperthermia_susceptibility|Myopathy...0.597090.596190.545531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12801932841938990336CT99191BenignMalignant_hyperthermia_susceptibility|Myopathy...0.056750.071880.084460|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12802932851938990345CT99192BenignMalignant_hyperthermia_susceptibility|Myopathy...0.09378.0.121810|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12803932861938990676CA99193Benignnot_specified|not_provided0.056440.069450.084660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12804932891938991640CG99196BenignMalignant_hyperthermia_susceptibility|Myopathy...0.221050.222050.260380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12805932921938993372AG99199BenignMalignant_hyperthermia_susceptibility|Myopathy...0.313980.336580.421930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12806932941938993547CT99201BenignMalignant_hyperthermia_susceptibility|Myopathy...0.157850.182080.237820/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128071332161938993638AG136963Benignnot_specified|not_provided0.331080.338990.428910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12808932961938994910GA99203BenignMalignant_hyperthermia_susceptibility|Myopathy...0.319550.32610.412340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128096692181938995152GA669807Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128106692201938995233AG669810Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128112565701938995355ACCTA257017Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12812932971938995438TC99204BenignMalignant_hyperthermia_susceptibility|Myopathy...0.319770.326430.415140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12813932981938995510TC99205BenignMalignant_hyperthermia_susceptibility|Myopathy...0.323620.329420.417130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12814932991938995975GA99206BenignMalignant_hyperthermia_susceptibility|Myopathy...0.308210.329410.405950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128151332241938996066AG136969Benignnot_specified|not_provided0.292570.339110.405950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128161332271938996620CT136972Benignnot_specified|not_provided0.288520.318550.405950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128171332281938996623TG136973Benignnot_specified|not_provided0.25741.0.405750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128181332291938996640AG136974Benignnot_provided..0.405950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128196692271938996821AC670245Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12820933001938996990TC99207BenignMalignant_hyperthermia_susceptibility|Myopathy...0.313620.326460.408150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128211332311938997076CT136976Benignnot_specified|not_provided0.309630.323530.406150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128221332331938997214TG136978Benignnot_specified|not_provided0.30878.0.406150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128235906171938997323TC581559Benignnot_specified|not_provided..0.406150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12824933021938997459GC99209BenignMalignant_hyperthermia_susceptibility|Myopathy...0.308630.324270.406150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12825933031938997609TA99210Benignnot_specified|not_provided0.307210.321950.404950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128261332351938997635AC136980Benignnot_specified|not_provided0.305340.320770.405950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128271332361938997679GT136981Benignnot_provided..0.405550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128286692471938997763CA668819Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128296807601938997896CT669815Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128302565761938998497GGC257022Benignnot_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12831933061939002725AG99213BenignMalignant_hyperthermia_susceptibility|Myopathy...0.310860.32510.406950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12832932391939010023CT99146BenignMalignant_hyperthermia_susceptibility|Myopathy...0.037310.05620.029750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128331329981939017378TC136746Benignnot_provided..0.349840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12834932421939018280CT99149Benign/Likely_benignMalignant_hyperthermia_susceptibility|Myopathy...0.122870.072880.12420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128351330001939018728CG136748not_providednot_provided.0.331360.267970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128362563961939019222AG257045Benign/Likely_benignnot_specified|not_provided0.002460.004450.00141|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128376692531939028759TC668826Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128382564131939034322GA257060Benignnot_specified0.048820.050350.045530|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128391330391939053691TC136787not_providednot_provided..0.405350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128406807981939055343CT669976Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12841932511939056291CT99158Benign/Likely_benignMalignant_hyperthermia_susceptibility|Myopathy....0.104510.032350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12842932531939061258CG99160BenignMalignant_hyperthermia_susceptibility|Myopathy...0.036910.046040.033550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128432564551939077253GT257097Benignnot_specified|not_provided0.061510.062440.027560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128442595821939196745CT257104BenignFocal_segmental_glomerulosclerosis_1|not_speci...0.392360.410490.339260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128455591111939307103CT549789Benignnot_provided0.082190.099180.075880|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128465591151939322087TG549793Benignnot_provided0.450950.472710.365020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128473292071939406167CG349792Likely_benignHyperuricemia,_pulmonary_hypertension,_renal_f....0.444720.550720|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128486836991939408086TC669847Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128493292121939408360AG348834BenignHyperuricemia,_pulmonary_hypertension,_renal_f...0.705210.706610.834671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128506836961939410119AG669850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128516836941939410986CG668849Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128526700371939413162CT668850Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128533292271939421388AG348839BenignHyperuricemia,_pulmonary_hypertension,_renal_f...0.713810.712110.842051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128547694541939760435TC704975Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12855413791939994711TC49803BenignSyndactyly|Jarcho-Levin_syndrome|Spondylocosta...0.590110.568640.629990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128561300531940900865CT135499BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.953790.946920.965461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128571300521940901011GC135498Benign/Likely_benignCharcot-Marie-Tooth_disease,_demyelinating,_ty...0.13317.0.099240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128581300501940901496TC135496BenignCharcot-Marie-Tooth_disease,_demyelinating,_ty...0.366290.350440.296730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128591300491940901604AG135495BenignCharcot-Marie-Tooth_disease,_demyelinating,_ty...0.60910.507040.531951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128601300481940901614AG135494BenignCharcot-Marie-Tooth_disease_type_4|not_specifi...0.609720.506850.531951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128611300511940904602GA135497Benign/Likely_benignCharcot-Marie-Tooth_disease,_demyelinating,_ty...0.134550.145470.102240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128626807221940913539CT668856Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128636785061941107205GC670267Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128646785071941107208AC670270Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128651639451941111069GA176729BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.519690.499420.524360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128666779851941112547GC670278Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128676836271941116166CG670279Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128681639461941117869AG176593BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.468960.447950.495210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128691787811941118056AG176731BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.46740.458980.495010|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128701639471941119829CT176594Benign/Likely_benignCutis_laxa_with_severe_pulmonary,_gastrointest...0.0748.0.048120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128716836281941122496AG668872Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128726836231941124931CT668875Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128731787821941128309CT176026BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.370560.537670.417130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128741639501941129842CT176027BenignCutis_laxa_with_severe_pulmonary,_gastrointest...0.511840.438870.518770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128756786061941133870TC669888Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128763846991941135283GC377666Benignnot_specified0.15616.0.136780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128776832041941198482TC668881Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128783801011941206060GC376538Benignnot_specified|not_provided0.037910.033450.013180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128793799411941206208AG376545Benignnot_specified|not_provided0.579120.526020.537541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128803800451941220529CT376552Benignnot_specified|not_provided0.171460.151280.099240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128817689961941386420AC705005Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128822260021941512792CT227803drug_responseefavirenz_response_-_Metabolism/PK0.239430.335280.289140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12883296711941512841GT38626drug_responseEfavirenz_response|efavirenz_response_-_Dosage...0.2904.0.31570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128841201711941515263AG125779drug_responseEfavirenz_response|efavirenz_response_-_Metabo....0.05632.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128853756611941515702TC362510drug_responseefavirenz_response_-_Metabolism/PK..0.734821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12886125341941858921GA27573BenignBreast_cancer,_invasive,_susceptibility_to|Dia.....0.545331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12887393021941860296AG47908BenignDiaphyseal_dysplasia..0.631991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128882618791941860587CT257134Benign/Likely_benignMeckel-Gruber_syndrome|not_specified0.063590.063570.041330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128892618811941869392TC257138BenignMeckel-Gruber_syndrome|Meckel_syndrome,_type_1...0.724510.654960.649561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128906804891941903421AT670293Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12891933341941903699TG99241Likely_benignMaple_syrup_urine_disease|not_specified0.107180.11720.082471|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128926804901941904165CT669927Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12893933411941916549CA99248Benign/Likely_benignMaple_syrup_urine_disease|not_specified|not_pr...0.09803.0.055310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12894933571941919944AC99264BenignMaple_syrup_urine_disease|not_specified0.67610.598950.616011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
128956761071941920211TC670294Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12896933821941928652CT99289BenignMaple_syrup_urine_disease|not_specified0.676070.599350.616411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12897933861941928701CT99293Benign/Likely_benignnot_specified|not_provided0.382440.37220.257390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12898933871941928724GA99294Benign/Likely_benignnot_specified0.643470.589560.585661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12899933891941928867GGC99296Benign/Likely_benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129006804911941929251TC670031Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12901933431941930396AG99250BenignMaple_syrup_urine_disease|not_specified0.6770.599970.617011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129024402441942364395TC433895Benignnot_specified..0.573280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129031389271942373298GA142630BenignDiamond-Blackfan_anemia|not_specified0.55468.0.558710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129043294001942471050GC349040BenignAlternating_hemiplegia_of_childhood|Dystonia_120.711680.637420.719450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129053294091942482076TA349042Likely_benignAlternating_hemiplegia_of_childhood|Dystonia_120.001770.003450.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129061579261942489516AC167773Benign/Likely_benignAlternating_hemiplegia_of_childhood|Dystonia_1...0.92973.0.901560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129077690111943420451GC705065Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129087690131943679410AG705071Likely_benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129097690141943699336TC705072Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129106838581944013260GA670042Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129116838561944030998CT668887Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129122603851944031324CT257139BenignEthylmalonic_encephalopathy|not_specified|not_...0.148910.190660.152360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129132259761944055726TC227806drug_responsePlatinum_compounds_response_-_Efficacy|cisplat...0.709210.68340.739620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129142572261945213752CT257140Benignnot_specified0.039140.045980.034941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129154391945322744AG15478BenignAUBERGER_BLOOD_GROUP_POLYMORPHISM_Au(a)/Au(b).0.275330.270371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129163294651945682026AC333754Likely_benignHermansky-Pudlak_syndrome..0.046530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129173294811945683448TA349968Likely_benignHermansky-Pudlak_syndrome..0.06290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129183294871945684109CT333794Likely_benignHermansky-Pudlak_syndrome..0.046530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129191341051945854919TG137844BenignOsteosarcoma|Non-small_cell_lung_cancer|Xerode...0.326.0.236620|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129202560181945855524GA257142BenignXeroderma_pigmentosum|not_specified0.258730.285910.182310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129212560161945856468GC257143Benignnot_specified0.67846.0.634390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129221355291945865002CA139268not_providednot_specified.0.640190.632990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129231341171945867259CT137856BenignXeroderma_pigmentosum|Xeroderma_pigmentosum,_g...0.243850.378820.194490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129242560211945868309TG257148BenignXeroderma_pigmentosum|not_specified0.662540.589810.636180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129252560201945872036CT257149Benignnot_specified0.656870.595730.636180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129262259871945912736CA227807drug_responsecisplatin_response_-_Toxicity/ADR|Platinum_com...0.261240.323660.295130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129272259451945923653AG227808drug_responseXeroderma_pigmentosum|carboplatin_response_-_E...0.540060.508470.668931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129286691431945992381TC670052Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129296841301946000535TG670057Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129303295531946049687TC349092Likely_benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.012380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129313295561946049982AG349095Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.775361/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129323295741946050760TC333835Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.637980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129333295941946051915TA333865Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.760980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129343295961946051919ATTTA349123Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129353296091946052454AG349142Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.758390|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129363296101946052620TCAGGGT333868Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129373296171946052898CT333871Likely_benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.154550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129383296241946053385CT349153Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.760180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129393296311946053655GGGCT333881Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129403296471946054822CT333893Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.756790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129413296571946055477GGT343865Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129423296821946056620CT333923Benign3-Methylglutaconic_aciduria_type_3|Optic_Atrop.....0.710660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12943217091946057081AG34561Benign3-Methylglutaconic_aciduria_type_3|Optic_atrop...0.682560.707590.766970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129442629131946268902CT257151BenignBranchiootorenal_syndrome_2|not_specified0.343660.320550.298121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129456784531947109011TC669931Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129466784541947111663TC670058Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129471373811947251930CG141084Benignnot_specified..0.06050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129487743571947425424GT705107Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12949995921948337812CT105481BenignLeber_congenital_amaurosis|not_specified|Cone-...0.144010.14950.088461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129503297061948343531CAAGC343885BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129513297131948343803TC343896BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.242211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129523297141948343815GC333943BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.276161/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129533297161948343903GA333950Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129543297171948343906CT349199BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.243011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129553297301948344190GC349205BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.276761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129563297331948344270CT343904Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129573297391948344513GA350127Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129583297411948344570GA343912BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.243211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129593297421948344679TA333976BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.570091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129603297441948344874GGA349209Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129613297481948345114TAT350128BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129623297531948345330CT349210BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.277561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129633297581948345407TC350143BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.56411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129643297611948345604CT350150Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129653297651948345783GC349215BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.230431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129663297681948345928CT333995BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.230231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129673297691948345941GT343926BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.230431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129683297771948346161TC349224BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.266971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129693297791948346241CT343931BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.213861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129703297811948346503CT334000BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.213861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129713297821948346509CG343933Likely_benignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.069691/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129723297831948346525TC349226BenignLeber_congenital_amaurosis|Cone-Rod_Dystrophy,.....0.213861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129732624811948800218TC257160Benignnot_specified0.218730.216030.203080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129742624961948800338AG257162Benignnot_specified0.622560.57030.464661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129752624901948800791AG257168Benignnot_specified0.401330.359540.321490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129762624891948800914GA257169Benignnot_specified0.232350.288680.167531|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129772624851948801414GT257171Benignnot_specified0.17861.0.152160|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129782624861948801426TC257172Benignnot_specified0.390130.326090.304310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129792625071948806977GA257179Benignnot_specified0.178840.183020.153360|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129802625041948807367CA257181Benignnot_specified0.179380.183950.153950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129812625031948807401CT257182Benignnot_specified0.2433.0.168131|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12982129451949206674GA27984Benign,_associationSECRETOR/NONSECRETOR_POLYMORPHISM|Vitamin_b12_....0.389420.321690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129831564401949469087TC166213BenignHyperferritinemia_cataract_syndrome|Neuroferri...0.519530.497910.460660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129846761321949474027AT670066Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129856816761949481631AC670318Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129866761311949485758CT670329Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129872608341949661112GA257190Benign/Likely_benignnot_specified|Progressive_familial_heart_block.0.293750.150360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129886748281949661582TC669944Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129897805801949977929AG716597Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129904963161950140068CT487954Benignnot_provided0.696830.703450.738221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129914963151950140092GA487955Benignnot_provided0.696830.70340.738221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129921382011950321587AG141904Benignnot_specified0.011150.008690.010180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129931382001950339548GA141903Benignnot_specified|not_provided0.013690.009570.009980/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12994954761950365370GA101375Conflicting_interpretations_of_pathogenicityEpileptic_encephalopathy|Early_infantile_epile...0.009230.007210.005390/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129951598011950366042GA169592Benignnot_specified|not_provided0.015610.033670.041330|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129966679411950370106TG668937Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
12997954861950370404GA101385Benign/Likely_benignHistory_of_neurodevelopmental_disorder|Early_i...0.009.0.006590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129981298461950411742AG135292Likely_benignnot_specified0.947260.944420.974041/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
129991298491950412217CG135295Likely_benignnot_specified0.316250.351750.316290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130001298481950412417GA135294Likely_benignnot_specified0.807550.791860.860420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130011298471950412516CT135293Likely_benignnot_specified0.021990.012430.021771|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13002440731950720949GA53241Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.014340.009710.011180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13003440791950726570GA53247Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.493260.60570.472841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13004440441950735340CT53212Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.324620.358820.321491|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13005440511950755955CT53219Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Domin...0.030270.040410.051120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13006440561950762418AG53224Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.73750.771940.761181/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13007440571950763889CT53225Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.435450.447970.43911/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13008440621950771609GA53230Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.531390.598040.484431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13009440631950771635TC53231Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.875260.875680.864621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13010440671950779469CT53235Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.186270.209660.131990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13011440751950796905GA53243Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.61460.747950.682110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130122575781950796960CT257195Benignnot_specified0.625660.749630.694490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130132267471950805138CT231073Benignnot_specified|Nonsyndromic_Hearing_Loss,_Dominant0.79466.0.75080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130143299551950813169AC350291Likely_benignNonsyndromic_Hearing_Loss,_Dominant.0.369050.2480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130153299581950813263TG349293BenignNonsyndromic_Hearing_Loss,_Dominant..0.825081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130163802271950905762TC377725BenignHereditary_cancer-predisposing_syndrome|not_sp...0.126170.053190.138380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130176764831950909389TG670373Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130186765461950909405GA668946Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130196797961950911847CA670018Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130206765501950916571AG670382Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130213802281950916772TC377776BenignHereditary_cancer-predisposing_syndrome|Colore...0.109260.044960.118410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130223802211950918969AG377792Benignnot_specified|not_provided0.209370.26590.282150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130232587881950919797CT257197Benignnot_specified|not_provided0.581030.579340.408350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130246765511950920100TC670026Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130253802291950920410CT379661Benignnot_specified|not_provided0.093530.076380.108431|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130263719331950920536AG359002Benign/Likely_benignColorectal_cancer_10|not_specified|not_provided0.115140.056890.128591|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130276765521950920558CT670028Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130285608221950921074AACCCTGC551952Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130292595641951411636GT257199Benignnot_specified0.9970.996170.99841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130306801191951848824AG670032Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130316801181951848834AG670384Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130326801111951849927GC670385Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13033940181951850290GA99920BenignGlutaric_aciduria,_type_2|not_specified|not_pr...0.541830.498030.419731/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130346801101951850485TC668951Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130356838511951850597TC670041Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130366838491951853288CG670387Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130376801081951853352AG670392Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130386801061951853872GA668952Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130393692891951883149TG353518Likely_benignCortical_pulverulent_cataract..0.643970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130407733601951919998TC705210Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130414028741952249211TG390308Benignnot_specified0.796940.804480.787141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130424028771952249702GT390462Benignnot_specified0.28910.328540.351040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130434028781952249947CG390432Benignnot_specified0.34323.0.393771/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130444028791952250216AG390319Benignnot_specified0.772490.805330.834070/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130454036251952803669CTGC390465Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130467694641953770261TC705230Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130477699861953848779TC705231Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130487699881953848837CT705233Likely_benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130493299881954296978ACA350305BenignFamilial_cold_autoinflammatory_syndrome..0.427521/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130502625311954307322GA257201BenignFamilial_cold_autoinflammatory_syndrome|not_sp...0.48601.0.426720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130514032421954308554CT390434Benignnot_specified0.854910.847390.806311/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130522625281954327313CA257206BenignFamilial_cold_autoinflammatory_syndrome|not_sp...0.26680.229440.255590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130533300521954327568AT350336BenignFamilial_cold_autoinflammatory_syndrome..0.781350|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130541300371954385820CT135483BenignSpinocerebellar_ataxia_14|not_specified|Spinoc...0.882290.946290.896371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130551300361954394965TC135482BenignSpinocerebellar_ataxia_14|not_specified|Spinoc...0.34607.0.329470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130563300631954395098GT334232BenignSpinocerebellar_ataxia_14|Spinocerebellar_Atax...0.351610.396690.333670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130571675371954632423TC177983Benignnot_specified|Retinitis_Pigmentosa,_Dominant0.82555.0.75320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13058977931955438831GT103685not_providedHydatidiform_mole,_recurrent,_1..0.591850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13059977921955438850AG103684not_providedHydatidiform_mole,_recurrent,_1..0.592650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13060977941955438940AAAACA103686not_providedHydatidiform_mole,_recurrent,_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13061977771955439371AG103669not_providedHydatidiform_mole,_recurrent,_1..0.592650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13062977781955439455GT103670not_providedHydatidiform_mole,_recurrent,_1..0.592850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13063977791955439472TC103671not_providedHydatidiform_mole,_recurrent,_1..0.592850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13064977821955439537CA103674not_providedHydatidiform_mole,_recurrent,_1..0.593250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13065977831955439542TC103675not_providedHydatidiform_mole,_recurrent,_1..0.593250|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13066977841955439545GA103676not_providedHydatidiform_mole,_recurrent,_1..0.594850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13067977851955439639AG103677not_providedHydatidiform_mole,_recurrent,_1..0.592650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13068977881955439821GT103680not_providedHydatidiform_mole,_recurrent,_1..0.416930|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13069977891955439838AG103681not_providedHydatidiform_mole,_recurrent,_1..0.592650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13070977741955440357GA103666not_providedHydatidiform_mole,_recurrent,_1..0.592450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13071977691955441643CT103661not_providedHydatidiform_mole,_recurrent,_1..0.590660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13072977671955441741AG103659not_providedHydatidiform_mole,_recurrent,_1..0.590060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13073977661955441744CT103658not_providedHydatidiform_mole,_recurrent,_1..0.590060|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130743301561955441902TC334316Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.544290.58190.590060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130753301581955441995AG344252Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.544130.581540.590450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13076977641955442280AC103656not_providedHydatidiform_mole,_recurrent,_1..0.576680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13077977651955442398CA103657not_providedHydatidiform_mole,_recurrent,_1..0.672920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13078977631955443424AG103655not_providedHydatidiform_mole,_recurrent,_1..0.739420/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13079977521955447501GA103644not_providedHydatidiform_mole,_recurrent,_1..0.161340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13080977421955448961GA103634not_providedHydatidiform_mole,_recurrent,_1..0.677921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13081977381955449099GC103630not_providedHydatidiform_mole,_recurrent,_1..0.410541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13082977281955449755GA103620not_providedHydatidiform_mole,_recurrent,_1..0.678511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130832871061955450746CT271343Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.11748.0.090850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130843301721955451050CT349382Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.1728.0.180711|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130853301761955451232CT334358Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.29540.240980.288940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130863301831955451797CT334365Benign/Likely_benignHydatidiform_mole,_recurrent,_1|not_specified0.388740.340430.355431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13087978941955453134GA103786BenignHydatidiform_mole,_recurrent,_1.0.42120.405551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13088978951955453418GA103787not_providedHydatidiform_mole,_recurrent,_1..0.193690/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13089978961955453511CT103788not_providedHydatidiform_mole,_recurrent,_1..0.180710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13090979001955458801GA103792not_providedHydatidiform_mole,_recurrent,_1.0.052520.069290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130917185781955495031GA728399Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130922574161955525497AG257209Benignnot_specified0.80570.768980.726640|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130932574131955525596TC257212Benignnot_specified0.734140.808320.716650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130942574111955525894GA257214Benignnot_specified0.733710.790380.717650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130952574281955526345TG257216Benignnot_specified0.797660.846710.823080|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130962574271955526359AT257217Benignnot_specified0.744910.79980.724840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130972574261955526373GC257218Benignnot_specified0.487510.54250.384590|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130982574241955527081CT257220Benignnot_specified0.730950.789450.713460/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
130992574231955530035CT257221Benignnot_specified0.76618.0.743610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131002574221955536595GA257222Benignnot_specified0.825040.81390.842650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131012574211955538980TC257223Benignnot_specified0.8801.0.907150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131022574191955539061AG257225Benignnot_specified0.750240.792930.732430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131032574181955539072TG257226Benignnot_specified0.81792.0.842650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131041677361955644325AC178100Benignnot_specified0.999850.989160.980431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13105318631955658088GA40523Benign/Likely_benignnot_specified|Nemaline_Myopathy,_Recessive|not...0.104820.234610.06430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13106318641955660499AG40524not_providednot_provided.0.205730.198280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13107318551955660537TC40515Benign/Likely_benignHypertrophic_cardiomyopathy|Familial_restricti....0.831460.81010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13108368811955665584AC45542Conflicting_interpretations_of_pathogenicityCardiomyopathy|Primary_ciliary_dyskinesia|Prim....0.9999711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13109433661955667647CA52536Benign/Likely_benignCardiomyopathy|Hypertrophic_cardiomyopathy|Pri...0.036820.046150.022760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131103692961955671337CT353525Likely_benignHypertrophic_cardiomyopathy|Familial_restricti....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131117690511955790886AAGCCGCCGCC705259Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131127694651955895588GA705264Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131137708121955912946TG705266Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131147690561956739747CG705276Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131157132371957325940AT728424Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131163302241957742472GC344295BenignSpermatogenic_Failure..0.867611|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131173302251957742489CT349406BenignSpermatogenic_Failure|not_specified.0.762470.767771|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131187690591958004931AG705290Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131197699891958421080GT705298Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131202863431959023166GA270580Benignnot_specified0.171590.243540.161740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131212863421959023174AG270579Benignnot_specified0.171130.253030.161540|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312240258620126310ACCA390451Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312326223020741847AG257429Benignnot_specified|not_provided0.702260.702160.655351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312426223820744450GA257434Benignnot_specified0.375210.431170.308710|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1312526222820746423GTATCTGCCCG257443Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13126337814201959939GA344725BenignSpinocerebellar_Ataxia,_Dominant..0.512981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13127337819201960198AG344729BenignSpinocerebellar_Ataxia,_Dominant..0.513781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13128337822201960313AG344733Likely_benignSpinocerebellar_Ataxia,_Dominant..0.095250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13129337834201961134AG334872BenignSpinocerebellar_ataxia_23|Spinocerebellar_Atax...0.173.0.130190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13130337846201974858TC350714BenignSpinocerebellar_Ataxia,_Dominant..0.6281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13131130585202375262AG136031BenignSpinocerebellar_ataxia_35|not_specified|Spinoc...0.937260.90710.8780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13132337914202380396GA344788BenignSpinocerebellar_ataxia_35|Spinocerebellar_Atax...0.616990.661650.574081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13133337920202384151GA344790Likely_benignSpinocerebellar_Ataxia,_Dominant0.075890.09170.129990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13134130584202398017GA136030BenignSpinocerebellar_ataxia_35|not_specified|Spinoc...0.271570.234510.324480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13135791662202413125CCCT,TT779964Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13136337941202413320TC350769BenignSpinocerebellar_Ataxia,_Dominant0.436570.417530.513180|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13137129807202633936TC135253Likely_benignnot_specified0.83431.0.861221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13138129806202637071TC135252Likely_benignnot_specified0.650850.633630.673721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13139129808202638579TC135254Likely_benignnot_specified0.358440.309840.3770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13140129809202638882TC135255Likely_benignnot_specified0.338930.293120.37740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13141338028202644407CG344895BenignRetinitis_Pigmentosa,_Recessive0.653310.686530.613021/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13142771047203026345AAGCCCC705420Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1314314747203193893AC29786drug_responseazathioprine_response_-_Toxicity/ADR|Inosine_t...0.11180.088630.059110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13144261999203209083GA257339Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.176.0.159150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13145261998203209371GA257340Benignnot_specified0.394010.447680.494210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13146261997203210301GA257341Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.09380.09160.048520|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13147261996203211235CT257342Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.09080.085130.045130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13148261994203211304GA257343Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.10118.0.047920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13149262002203214581CT257345Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.186220.15740.166330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13150262001203214819TG257346Benign/Likely_benignnot_specified|Corneal_Dystrophy,_Recessive0.48093.0.479830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13151338263203218355CG344973Likely_benignCorneal_Dystrophy,_Recessive0.43165.0.450280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13152193506203870079TA190670BenignPigmentary_pallidal_degeneration|not_specified...0.045450.121720.086861/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1315396526203870124GC102420BenignPigmentary_pallidal_degeneration|not_specified...0.93669.0.879190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1315413397204680251AG28436BenignAlzheimer_disease,_early-onset,_susceptibility....0.307780.266570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13155338858205283256CG345515BenignHypogonadism_with_anosmia|Kallmann_syndrome_3|...0.735050.743520.723241/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13156338859205283376GA345516BenignHypogonadism_with_anosmia|Kallmann_syndrome_3|...0.409270.398020.446491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13157339170206055696GGT351325Uncertain_significanceKindler's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13158339178206056042TTA351333BenignKindler's_syndrome..11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13159260868206064710AG257380BenignKindler's_syndrome|not_specified0.359680.36830.395770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13160339209206064731CT336173BenignKindler's_syndrome0.153160.102360.116410|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13161339213206065729CTTTTC345924Uncertain_significanceKindler's_syndrome...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13162339224206088265GA350337Likely_benignKindler's_syndrome0.063740.070910.051121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13163339230206093177AG351350Likely_benignKindler's_syndrome0.104030.083180.083071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13164339234206096632GA351354Likely_benignKindler's_syndrome0.108410.084810.088261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13165260864206100088AG257384BenignKindler's_syndrome|not_specified0.532370.524280.524561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13166260863206100230AC257385BenignKindler's_syndrome|not_specified0.599190.635580.708471/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13167339257206104048CG350349BenignKindler's_syndrome..0.426920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13168339259206104068CT336223BenignKindler's_syndrome..0.704071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13169195136206751034AG192297Benignnot_specified0.708260.672310.746010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13170196322206759115AT193483BenignSHORT_STATURE,_FACIAL_DYSMORPHISM,_AND_SKELETA...0.729310.674320.766770/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13171126883207885184CG132395associationCalcium_oxalate_urolithiasis..0.325280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13172126886207899928TC132398associationCalcium_oxalate_urolithiasis..0.31050|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13173126888207909166GA132400associationCalcium_oxalate_urolithiasis..0.303910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13174126889207912942CG132401associationCalcium_oxalate_urolithiasis..0.299120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13175129899208130943CT135345Benign/Likely_benignSeizures|not_specified|Early_Infantile_Epilept...0.192790.168530.18710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13176129901208696907TG135347Benign/Likely_benignSeizures|not_specified|Early_Infantile_Epilept...0.077810.121640.134980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13177129908208737734GA135354Benign/Likely_benignSeizures|Early_infantile_epileptic_encephalopa...0.251880.271770.212260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13178129910208755243TC135356BenignSeizures|Early_infantile_epileptic_encephalopa...0.640240.61550.613220|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13179129912208769180CT135358BenignEarly_infantile_epileptic_encephalopathy_12|no...0.891440.940790.896971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13180129914208770822CT135360BenignSeizures|Early_infantile_epileptic_encephalopa...0.253350.296950.228630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13181339539208864177TC350478BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.804511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13182339540208864203AG351533BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.609431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13183339544208864448AACTTA351538Likely_benignEarly_Infantile_Epileptic_Encephalopathy,_Auto......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13184339548208865006CT336462BenignEarly_Infantile_Epileptic_Encephalopathy,_Auto.....0.535941/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13185339552209288522GA350485BenignAuriculocondylar_syndrome_2|Auriculocondylar_s...0.516540.596540.471451/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131865427312010234257GA533432Benignnot_provided..0.49780|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131872610602010393145CG257305Benignnot_specified0.24719.0.265380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131883377152010618574TC344656BenignArteriohepatic_dysplasia|Isolated_Nonsyndromic.....0.474240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131893377232010619014AC344672BenignArteriohepatic_dysplasia|Isolated_Nonsyndromic.....0.221650|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131903377292010619289CCA349651BenignArteriohepatic_dysplasia|Isolated_Nonsyndromic......0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131913377352010619659TAT344686BenignArteriohepatic_dysplasia|Isolated_Nonsyndromic......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13192424782010620275GA51648BenignArteriohepatic_dysplasia|not_specified|Cardiov...0.228130.238290.180110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131931375952010620386AG141298BenignArteriohepatic_dysplasia|not_specified|Cardiov...0.72720.659190.712660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131942555552010622080CAC257308Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131951430632010633237GA152781BenignArteriohepatic_dysplasia|not_specified|Cardiov...0.424650.454080.423320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131962135242010639385AG210341BenignArteriohepatic_dysplasia|not_specified|Isolate...0.424040.437540.457670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131975365362010639543GA534015Likely_benignAlagille_syndrome_1..0.513780/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131986834252013773572CG670439Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
131996694682013778878CG670197Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132001296942013782194CT135140Benignnot_specified|not_provided0.014920.01890.010580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132016834292013789247AG669030Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132022576162017474791GA257325Benignnot_specified|not_provided0.276490.246290.205870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132032576152017474968TC257326Benignnot_specified|not_provided0.74012.0.75061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132042576172017479617GA257329Benignnot_specified|not_provided0.056820.05640.022560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132053800412017950545AT379676Benignnot_specified|not_provided0.110870.104070.085260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132066842562017968548GA670201Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132072622492017968923TC257331Benignnot_specified|not_provided0.26549.0.31190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132086842582017969211CT670141Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132093377812018488399CG350687BenignCongenital_dyserythropoietic_anemia..0.771971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13210953792018511456AG101278BenignCongenital_dyserythropoietic_anemia|not_specified0.916490.974730.916331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132116839962019867042CT669034Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132126791152019915678CG669036Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132133847132019955473CT377963Likely_benignnot_specified0.016530.014490.004590/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132143378522023026496CT334892BenignAtypical_hemolytic_uremic_syndrome..0.775961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132153378622023027413TG344766BenignAtypical_hemolytic_uremic_syndrome..0.167130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132163378642023027621TC334901BenignAtypical_hemolytic_uremic_syndrome..0.302121|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132173378832023028724GA334922BenignAtypical_hemolytic_uremic_syndrome0.137880.199690.164540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13218127182023030015CT27757Conflicting_interpretations_of_pathogenicityAtypical_hemolytic-uremic_syndrome_6|Atypical_....0.003430.00280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1321956352023618427CT20674Conflicting_interpretations_of_pathogenicityAge-related_macular_degeneration_11.0.254890.212260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132204025692023618571TG390477Benignnot_specified..0.211660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132213379482025056401TC349766Likely_benignPosterior_Polymorphous_Corneal_Dystrophy..0.022160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132223379842025281159CCTC350785Likely_benignPolyneuropathy,_hearing_loss,_ataxia,_retiniti.....0.103830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132231282552025288632GA133704BenignPolyneuropathy,_hearing_loss,_ataxia,_retiniti...0.434650.469640.336061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132243379992025371378GGGCCTCCGCC335074BenignPolyneuropathy,_hearing_loss,_ataxia,_retiniti......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132253380042025371559CT349784BenignPolyneuropathy,_hearing_loss,_ataxia,_retiniti.....0.456271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132261384052030407213TC142108Benign/Likely_benignHypertrophic_cardiomyopathy|not_specified..0.053910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132276785212030408580TC670158Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13228366542030412101CT45316BenignCardiomyopathy|Familial_hypertrophic_cardiomyo...0.014380.011370.005990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132291917412030419929GA190018Uncertain_significanceFamilial_hypertrophic_cardiomyopathy_1|not_pro...0.000152e-05.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132306835802030795819TC656627Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132311335992031022959TC137338not_providednot_specified0.999920.9999811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132323381132031024274TC349835BenignC-like_syndrome|not_specified0.320080.418330.405750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132333381202031025163AG345017BenignC-like_syndrome0.305170.406510.399960|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132343381232031025231TC345023BenignC-like_syndrome..0.399760|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132353381262031025535AG335208BenignC-like_syndrome..0.428910|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132363381652031383353TG345058BenignImmunodeficiency-centromeric_instability-facia...0.402890.483560.584861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132373381702031386347TC345062BenignImmunodeficiency-centromeric_instability-facia...0.579120.580580.755791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132383381712031386449TC335243BenignImmunodeficiency-centromeric_instability-facia...0.577730.579220.755791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132393381752031387954CG335245BenignImmunodeficiency-centromeric_instability-facia...0.53398.0.714061/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132403381802031388636TC349870BenignImmunodeficiency-centromeric_instability-facia...0.562130.573720.742611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132413381972031396536AG350898BenignImmunodeficiency-centromeric_instability-facia.....0.804711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132423382012031397019ATA345089BenignImmunodeficiency-centromeric_instability-facia......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132436709512032000351AG670166Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132446838672032026350CG669066Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132453382862032891200GT349903BenignHypermethioninemia..0.677121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132462554742033533736AC257352Benignnot_specified|not_provided0.70537.0.664340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132475108732033581955GA507152Benignnot_specified0.356140.432460.396770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132482567162034022387AC257356BenignBrachydactyly|Acromesomelic_Dysplasia|Symphala...0.36906.0.383990/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132492567122034025756AG257358BenignBrachydactyly|Acromesomelic_Dysplasia|Symphala...0.582520.474350.56110/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1325083902034025983AG23429BenignBrachydactyly|Osteoarthritis_of_hip|Acromesome.....0.546530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132516714532034285442CT669101Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132527084752034526853CT728625Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132536836872035865054CT656633Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132547708152036784246CT778680Likely_benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132554024302036932660CT390390Benignnot_specified0.427420.506180.431310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132564024312036932676GC390456Benignnot_specified0.430030.507620.43470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132574024332036940314CT390457Benignnot_specified0.043130.057290.051320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132584024342036946848GA390480Benignnot_specified0.495310.462370.43510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132593383932039315589CCT335418BenignMulticentric_osteolysis_nephropathy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132607756482040074369CT705487Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132617756492040161684CT778598Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132627756502040161979TA705488Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132636835452042814688GT669103Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132646711132042814931TC669121Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132651376022042815190GA141305BenignFamilial_hypertrophic_cardiomyopathy_17|not_sp...0.866290.844950.854230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132666769062043042130CG670492Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132676769072043042580CG670262Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132686769082043042950AC670209Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132696743632043043051CG670264Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132706743642043043095GA670271Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132716768792043047293AG669133Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132726768812043048685AG670495Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132736768822043052570TC670274Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132746768842043058018TC669135Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132756768862043058096CG670497Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132763384482043059211AC335470Likely_benignMaturity_onset_diabetes_mellitus_in_young|Hype.....0.571291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132774023402043264927CT390343Benignnot_specified0.984620.995540.982231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132784441172043882833GA437771BenignDiabetes_mellitus_type_2..0.161541|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132794441162043948221AC437780BenignDiabetes_mellitus_type_2..0.24860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132804441202043953076TG437781BenignDiabetes_mellitus_type_2..0.417331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132814441122043953319CAGC437782BenignDiabetes_mellitus_type_2...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132824441062043957510GA437783BenignDiabetes_mellitus_type_2..0.295930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132834441112043958755GA437784BenignDiabetes_mellitus_type_2..0.803711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132844441132043964288TC437785BenignDiabetes_mellitus_type_2..0.495010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132853385132044519643GA351036BenignCombined_deficiency_of_sialidase_AND_beta_gala...0.360910.582370.384190/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132863385202044519793AC351042Likely_benignCombined_deficiency_of_sialidase_AND_beta_gala.....0.015580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132876836332044522594AG670283Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132886836342044522953CT670506Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132895588672044523442TCT549810Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132903385352044523547GA345347BenignCombined_deficiency_of_sialidase_AND_beta_gala...0.634940.660180.678320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132913385382044523782CT351057BenignCombined_deficiency_of_sialidase_AND_beta_gala...0.636630.660760.679910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132926719902044526783GA670285Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13293136342044548193CT28673associationHigh_density_lipoprotein_cholesterol_level_qua.....0.31430/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132941308102044596207CG136255Likely_benignnot_specified0.92450.84930.777761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132951308072044596545GA136252Benignnot_specified0.333740.331290.18570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132961307952044599839GC136240Likely_benignnot_specified0.954230.893840.859821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132973385462044637624CT350025Likely_benignMetaphyseal_anadysplasia0.016840.034960.032750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132983385542044640959GA351068BenignMetaphyseal_anadysplasia0.471470.436080.260580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
132992820932044642406GC266330BenignMetaphyseal_anadysplasia|Metaphyseal_anadyspla...0.91996.0.830271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133002853632044642833AC269600BenignMetaphyseal_anadysplasia|not_specified0.599580.470760.405951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133013385622044645010CT350030BenignMetaphyseal_anadysplasia0.473090.43290.259380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133023385632044645153TC345359BenignMetaphyseal_anadysplasia..0.163740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133034756562044664491CA470904BenignEarly_infantile_epileptic_encephalopathy_340.018070.035320.032150/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133044756582044665946TC470416BenignEarly_infantile_epileptic_encephalopathy_340.018070.035610.033150|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133054756402044671880CT469378BenignEarly_infantile_epileptic_encephalopathy_340.017990.035150.032950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133064756442044676727TA471417BenignEarly_infantile_epileptic_encephalopathy_340.02130.04540.030950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133073385692044746982TC350035BenignImmunodeficiency_with_hyper_IgM_type_3|not_spe...0.803010.752730.771170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133083385762044757524CG335608Benign/Likely_benignImmunodeficiency_with_hyper_IgM_type_3|not_spe...0.006610.017060.015970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133093386242045363813GA351090Uncertain_significanceArterial_tortuosity_syndrome..0.003790/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133106679952047639991AG670247Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133112612632050405502CG257369Benignnot_specified|SALL4-Related_Spectrum_Disorders0.09765.0.049721|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133122612602050407162TC257372Benignnot_specified|SALL4-Related_Spectrum_Disorders0.302090.357830.381990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133132612592050407502AC257373BenignDuane-radial_ray_syndrome|not_specified|SALL4-...0.2781.0.358830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133142612582050407966CT257374Benignnot_specified|SALL4-Related_Spectrum_Disorders0.335230.252250.209271|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133152612642050408482AG257377Benignnot_specified|SALL4-Related_Spectrum_Disorders0.995620.996510.99741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133163387892052770054CCAT351180BenignInfantile_hypercalcemia..0.610621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133173387972052770596GC335826BenignInfantile_hypercalcemia..0.216651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133183388102052771261GA351190BenignInfantile_hypercalcemia..0.18871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133193388312052786219GA350152BenignInfantile_hypercalcemia|Idiopathic_hypercalcem...0.52430.492360.458071/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133206675642055803149CT670253Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133216675632055803687CT669189Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133223388682056136536AG345596BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.44795.0.396971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133233388752056137798GA351214BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.412730.378830.295131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133243388762056137807AG351217BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.449640.41110.31331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133253388772056137834AG335894BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.449560.414470.31411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133263388792056137895GC351218BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.90120.846260.846051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133273388822056138621AG345601Likely_benignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.098720.092570.057710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133283388892056139403TC345602BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici...0.802250.754740.786940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133293388982056140980TG351230BenignPhosphoenolpyruvate_carboxykinase_(GTP)_defici.....0.424321/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133302595372057009796CT257378Benignnot_specified0.414580.416750.416930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133313389472057020573AG335929BenignAmyotrophic_Lateral_Sclerosis,_Dominant|Spinal....0.2220.180310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133323389742057022712GTGTGTGCAG350203BenignAmyotrophic_Lateral_Sclerosis,_Dominant|Spinal......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133333390052057024541TC350221BenignAmyotrophic_Lateral_Sclerosis,_Dominant|Spinal....0.427190.483230|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133343390062057024589CT350223BenignAmyotrophic_Lateral_Sclerosis,_Dominant|Spinal....0.254690.209070|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133353390502057244493GA336021BenignPseudohypoaldosteronism_type_1_autosomal_dominant0.516390.502070.474440|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133363390812057253132AG345794BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.539340|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133373390872057253275CT350266BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.204470|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133383390892057253404GA351305BenignPseudohypoaldosteronism_type_1_autosomal_dominant..0.392970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133391976812057478807CT194842Benignnot_specified0.579430.547330.644370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133401364622057607260GA140165Benignnot_specified0.001330.003310.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133415060812060864390CT497338Benignnot_specified0.402570.468350.424721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133422584132061467800AG257414Benignnot_specified0.140470.188820.223040/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133432584152061467898GC257416BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.912460.919830.933310/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133442584172061468571TC257418BenignMultiple_Epiphyseal_Dysplasia,_Dominant|not_sp...0.76440.686950.709860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133453393182061472386AG346001BenignMultiple_Epiphyseal_Dysplasia,_Dominant..0.245611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133463393202061472440CT351403BenignMultiple_Epiphyseal_Dysplasia,_Dominant..0.243011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133476680932061978524TC670560Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13348934282061981104CT99335BenignSeizures|Nicotine_addiction,_protection_agains...0.409430.474980.351841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13349934272061981134GA99334BenignSeizures|Nicotine_addiction,_protection_agains...0.40831.0.323481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13350934252061981536AG99332BenignSeizures|Epilepsy,_nocturnal_frontal_lobe,_typ...0.857140.935750.870811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13351934242061981554CA99331BenignSeizures|Epilepsy,_nocturnal_frontal_lobe,_typ...0.75139.0.733831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133521287502061982085AG134199BenignSeizures|not_specified|not_provided0.84330.919550.863621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133531287492061982124AG134198BenignSeizures|not_specified|not_provided0.766950.835280.757191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133546680922061982692CT670287Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133556707592061990874TC670577Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133566798952061991301AC669204Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133576798942061992285AC670584Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13358217792062038277TG34631BenignSeizures|Benign_familial_neonatal_seizures_1|K...0.59870.637240.590450/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133594987852062046496CCGACAGACA490209Benignnot_specified...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133606750612062055417GA669223Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133616820492062059505GA670375Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133626820472062065420CT669227Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133636820462062065460GA670315Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133646820452062070301CT670376Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133656707642062076743CA670390Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133666837262062076988TC670322Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133676689252062078487TC669249Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133686800182062119875TC670338Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133696800172062122211GT670597Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133703796892062126185AG379761BenignSeizures|not_specified|not_provided0.573940.570980.591650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133713807792062126299CT378443BenignSeizures|not_specified|not_provided0.099140.135380.140180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133726681292062126745GA669259Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133736800092062128735TC670349Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133744964892062305274GA488061Benignnot_provided0.250650.249110.293730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133754964882062309554CT487850Benignnot_provided0.694530.664820.611621/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133764033982062320968TC390347Benignnot_specified|not_provided0.827760.748630.718251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133774034002062321655GA390350Benignnot_specified|not_provided0.808170.741080.696091/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133784034012062322288TC390482Benignnot_specified|not_provided0.83530.765290.718051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133794034022062326110AC390459Benignnot_specified|not_provided0.823240.754730.736821/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133804034042062328375AG390461BenignDyskeratosis_congenita,_autosomal_recessive,_5...0.942220.93840.965461/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133813754822062421622AG362292associationChronic_osteomyelitis0.169230.175040.265180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133826792972062559964GA669275Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133833394152062565833CT351455BenignNeuronal_Ceroid-Lipofuscinosis,_Recessive..0.276160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133847700042062571417AGGAG,A778592Benignnot_provided...1/2.https://www.ncbi.nlm.nih.gov/clinvar/variation...
133853394632062612675GA351479Likely_benignRetinitis_Pigmentosa,_Dominant0.076610.207440.094850/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133863394832062659937CT336423Likely_benignRetinitis_Pigmentosa,_Dominant0.147780.131830.158550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133873394922062664365CT350449Likely_benignRetinitis_Pigmentosa,_Dominant0.118560.13320.072680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133887745332116337111GA705627Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133897820672116338259AG717163Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133905867622134003928AAAGTATT577888Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133915867602134014283CA577890Benignnot_provided0.286940.288480.291330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133925867582134059352TC577892Benignnot_provided0.297610.293390.304110|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1339372882134614250TC22327risk_factorHepatitis_b_virus,_susceptibility_to.0.105390.118610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133947754422134625037CG705659Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133954029702134634878GA390483Benignnot_specified.0.430070.43530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133963396982134668747AG351592BenignInflammatory_bowel_disease.0.636160.568490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133973397092134669381GA346315BenignInflammatory_bowel_disease..0.56510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133984029632134799350CG390403Benignnot_specified0.752190.764220.842251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
133993397162135736384GA346324Likely_benignLong_QT_syndrome|Romano-Ward_syndrome|Familial.....0.106630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134003397212135819014GA336618BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.676120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134013397222135819063TC346327BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.451280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134023397322135819536AG351613BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....11/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134033397462135819995GGC336627BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134043397512135820324TC336636BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.493610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134053397642135821087GA336663BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.448080/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134063397692135821419TC346347BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn.....0.412140/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134071326512135821821TC136399BenignLong_QT_syndrome|Jervell_and_Lange-Nielsen_syn...0.661930.647710.673920/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134086718962135822111AG670353Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134096756062135822270TC669293Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134101379762135831815AC141679Benignnot_specified..0.993811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134112581802136164405GT257452BenignFamilial_platelet_disorder_with_associated_mye....0.600310.370611/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134122581862136206932GA257457BenignFamilial_platelet_disorder_with_associated_mye....111/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13413440882137833307CT53256Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.223130.168240.135380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13414440842137833751GA53252Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.276260.216090.19010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134153399152138123404AAAT350652BenignHolocarboxylase_synthetase_deficiency..0.352440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134162560332138126507TC257460Likely_benignHolocarboxylase_synthetase_deficiency|not_spec...0.020250.027750.023560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134176761392138128707GA670612Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134182560352138132172CT257461Benignnot_specified|not_provided0.42565.0.382991|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134192560342138139632CA257463Benignnot_specified0.575430.563250.62760/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13420929152138302543CAC98822Benign/Likely_benignHolocarboxylase_synthetase_deficiency|not_spec......1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134212560372138302769CT257464Benignnot_specified0.540140.58630.55970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134226806002138308552CT670360Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134231375522138362470AG141255BenignHolocarboxylase_synthetase_deficiency|not_spec.....0.260980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134243399822138362498GA351758BenignHolocarboxylase_synthetase_deficiency..0.254990|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134256798432138791156AG670422Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134262040082138853058TTA200401PathogenicInborn_genetic_diseases|Mental_retardation,_au......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134276813262138858938GA670625Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134286793642138865507CG670431Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134296689112138868111AT670629Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134303399902143160015CT350694BenignPopliteal_pterygium_syndrome..0.417331/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134313399922143160214AACT346491BenignPopliteal_pterygium_syndrome..0.431711/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134323399992143160438TC350704BenignPopliteal_pterygium_syndrome..0.43791/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134333400062143160908AG351774BenignPopliteal_pterygium_syndrome..0.769171/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134342613512143161022CT257465BenignPopliteal_pterygium_syndrome|not_specified0.387110.453120.445491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134352613502143161357TC257466BenignPopliteal_pterygium_syndrome|not_specified0.980160.965190.956871/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134362613492143161805GA257467BenignPopliteal_pterygium_syndrome|not_specified0.514380.601980.530951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134372613482143161877CT257468BenignPopliteal_pterygium_syndrome|not_specified0.398820.443370.44011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134382613472143162150GA257469BenignPopliteal_pterygium_syndrome|not_specified0.395490.451740.44011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134392613462143164232CA257470BenignPopliteal_pterygium_syndrome|not_specified0.362910.412580.384191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13440460892143792869CT55254Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.163080.23580.268970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13441461292143803167TC55294Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.160160.162680.241211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13442461212143805656TC55286Benign/Likely_benignnot_specified|Nonsyndromic_Hearing_Loss,_Reces...0.582120.487730.618411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134436722352144476759AG669323Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134446833122144478000TC670378Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134456687322144480283GA669335Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134466784562144483773GA670447Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134472560102144589215CT257472BenignCongenital_cataract|not_specified|not_provided0.64370.54040.50/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134483401122144592875GA336903Likely_benignCongenital_cataract..0.106630/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134495865862144837551GA577895BenignSeizures|not_provided0.724140.800050.725441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134505865852144837555GA577896BenignSeizures|Epileptic_encephalopathy,_early_infan...0.845470.890010.830671/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134515865882144846016CT577899BenignSeizures|not_provided0.186870.281270.166530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134524958552145705952CT487965Benign/Likely_benignnot_provided0.000820.00221.0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134531283382145708277CT133787Benignnot_specified0.186790.207990.133191/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134548036332145712357ACA792010BenignPolyglandular_autoimmune_syndrome,_type_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134551283362145712977TC133785Benignnot_specified0.39350.377990.356230/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134561283372145717550TC133786Benignnot_specified0.494380.461070.530351/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134573401342146306161CT351837Likely_benignLeukocyte_adhesion_deficiency..0.158350/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134581007522146306472CG106617not_providedLeukocyte_adhesion_deficiency_type_1..0.194290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134593401552146311813AG346638BenignLeukocyte_adhesion_deficiency|not_specified0.750150.688830.762981/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134601007462146313442GT106611BenignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.240890.230670.199081|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134611007452146314907TA106610BenignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.999850.9999411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134621007652146315022CT106630not_providedLeukocyte_adhesion_deficiency_type_10.25350.235050.207270|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134631007612146320313CT106626BenignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.216210.242850.223040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134641007562146321659CA106621Likely_benignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.18099.0.139180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134653401722146323273GA350811Benign/Likely_benignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.035450.023430.047120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134663779812146327026CA378485Benignnot_specified0.068670.074610.108830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134678036342146328099TC792011BenignLeukocyte_adhesion_deficiency_type_1...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134681007532146330674CA106618BenignLeukocyte_adhesion_deficiency|Leukocyte_adhesi...0.217160.22850.213060/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134695183202146875564TC508935BenignKnobloch_syndrome_1|not_provided0.969330.97050.988420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134702619192146876083AG257481Benignnot_specified0.382930.343740.37560|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134712618852146893767AG257482Benignnot_specified0.222050.200540.2480/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134723402142146897893TTC351873Likely_benignKnobloch_syndrome_1...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134732618902146899947GA257487Benignnot_specified0.19232.0.170530/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134742618922146901973AC257489Benignnot_specified0.229780.226480.208270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134752618952146908355TC257492BenignKnobloch_syndrome_1|not_specified0.31287.0.319890|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134768036352146911299GGC792012BenignKnobloch_syndrome_1...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134773402402146913153GT336991Likely_benignKnobloch_syndrome_10.024490.027190.011980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134781575882146957794TC167450Uncertain_significanceGastrointestinal_stroma_tumor0.509320.576970.488620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134796711072147402227GGC670465Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13480938732147404397AG99775BenignCollagen_VI-related_myopathy|not_specified0.863180.864430.880391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13481938762147406421GA99778Benignnot_specified0.186430.184680.112421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13482938792147406612CA99781BenignCollagen_VI-related_myopathy|not_specified.0.72150.695891/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134836791772147409113CT670412Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134846791782147409239GC670417Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13485938912147409503AG99793Benignnot_specified0.862940.861820.87681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13486938972147409580CA99799BenignCollagen_VI-related_myopathy|not_specified0.178990.182460.094051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13487937932147410373AG99695Benignnot_specified...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13488938002147410386CT99702Benignnot_specified..0.00221|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134896791802147410626TG670469Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13490938052147410931TC99707BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.623940.531470.544931/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134916803112147412511GA669369Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13492938112147412751AC99713Benignnot_specified|not_provided0.879040.858920.871411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134936799392147413929GT670667Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
134946799402147417206AG669370Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13495938132147417303TC99715Benignnot_specified|not_provided0.472780.537540.511581|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13496938152147417415CA99717Benignnot_specified0.54237.0.610020|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13497938162147417432AAG99718Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13498938172147417578AG99719Benignnot_specified|not_provided0.358360.341210.287141|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13499938222147417975AG99724Benignnot_specified|not_provided0.88207.0.883391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135006803142147418234GC670423Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135016799452147418564TC669373Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13502938262147419012CT99728Benignnot_specified|not_provided0.34181.0.289340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135036799482147419277GT670668Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135046799472147419697CT670669Benignnot_provided...1|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135056799492147419747AG670671Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135066791852147420016GA669397Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135076791862147420418CT670680Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13508938312147420723GC99733Benignnot_specified|not_provided0.336080.283870.265971/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13509938322147420726CG99734Benignnot_specified|not_provided0.86668.0.830271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13510938342147420761GA99736Benignnot_specified|not_provided0.50197.0.559511/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13511938352147420769AG99737Benignnot_specified|not_provided0.86049.0.867411/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135126791922147420866CT669411Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135136791952147420971AG669417Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13514938502147422412CT99752Benignnot_specified|not_provided0.482550.562020.551320/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135156792012147423133CG670685Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13516938612147423389GA99763BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.339610.288830.270170/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13517938642147423507GA99766BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.337260.285930.268171|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13518938652147423509CT99767BenignBethlem_myopathy_1|Ullrich_congenital_muscular...0.161870.16260.108830|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13519938702147423636CT99772BenignCollagen_VI-related_myopathy|not_specified0.327130.271490.264180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135203403422147424346AG350905BenignCollagen_VI-related_myopathy..0.881991/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135216792042147531215CT670436Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13522939552147532440CT99857BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.09475.0.095050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135236792052147532544CT670443Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135246792072147535536TG670444Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13525939632147536546CT99865Benignnot_specified0.424640.492150.397560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13526939002147537882GA99802Benignnot_specified|not_provided0.463410.53090.451480|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135276792122147538050GA670455Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135286792132147538071GA670458Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135296792062147538310AT669446Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13530939032147538960GA99805BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.72923.0.705271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13531939052147539790AG99807Benignnot_specified|not_provided0.822670.766840.80971/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135326724682147540036GA669449Likely_benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135336716892147540050CT670698Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135346792152147540186CT669451Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135356792172147540200CT670501Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135366792092147540231AC670502Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135376792182147540260CT670709Benignnot_provided...1/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135386792222147540725GA670710Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135396792102147541744AG670712Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135406792242147542220CT670715Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13541939142147542861AG99816BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.860870.812210.847441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135426681052147544308TC670474Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13543939162147544541CG99818Benignnot_specified|not_provided0.41401..0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13544939192147544769AG99821Benign/Likely_benignnot_specified|not_provided0.093420.083680.075680/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13545939222147545155AG99824Benignnot_specified|not_provided0.803320.798490.795131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13546939292147545768GA99831BenignMyosclerosis|Bethlem_myopathy_1|Collagen_VI-re...0.412960.47840.393970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13547939302147545823GA99832BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.412730.475510.394170|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13548939312147545826CT99833BenignMyosclerosis|Collagen_VI-related_myopathy|not_...0.412580.475510.393970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135496792262147546244TC669469Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135506792192147549613CT670494Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135516792282147549629TA670511Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13552939402147551833CT99842Benignnot_specified|not_provided0.531890.535870.483831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13553939482147552209GA99850Benign/Likely_benignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|Myos...0.08140.092440.067290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135543403932147552527GA350939Likely_benignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|Myos.....0.039940|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13555954242147558473GC101323BenignGLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|not_...0.471330.51390.481030/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135566771752147614469AC656675Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135576772212147635176TC656676Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135586771742147635627CG656677Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135596771732147635713GA670517Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135606771722147639492CG670522Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135616772202147641794CT656678Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135626772192147642609GA656679Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135634030752147685939AG390367Benignnot_specified0.474010.451470.421730/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135647186932147704253GC728978Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135654036132147704896GA390484Benignnot_specified0.331460.324120.24860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135664024422147721985AATGG390504Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135673404552147744037CGC351957BenignMicrocephalic_Osteodysplastic_Primordial_Dwarfism...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13568953412147766139TC101240BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.689070.64080.675120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135696677972147766232AC670527Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135701596532147766650GA169621BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.32027.0.299920|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135716688702147771056CT670727Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135721595662147773103CA169626BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.29825.0.289540/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135736677962147776706GA669479Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135741595692147777063GA169629BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.893820.855920.848641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135756677982147777222AG670498Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135761595722147783796TC169631BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.894870.854810.847051/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135776677992147784060TC670503Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135781595732147786449TA169632Benignnot_specified|not_provided0.89119.0.806511/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135791595742147786494CT169633BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.688560.748680.657751/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135801595792147786817CG169638BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.881750.852750.838861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135811595812147787002TC169640BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.883050.8530.837661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135821595972147811272CT169654Benignnot_specified|Microcephalic_Osteodysplastic_Pr...0.287940.365760.301520/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135836678042147816953GA670736Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135846739792147818298TC670743Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135856678052147821726GA669484Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135866675432147830843TC670510Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135871596422147836653CT169690BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.225270.281090.24960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135886678062147847852TC670748Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135891596682147850405CT169714BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.705570.665310.669130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135901596702147850484GC169716BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.484080.577430.488220/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135911596712147851753AG169717BenignMicrocephalic_osteodysplastic_primordial_dwarf...0.691840.639680.669930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135926688712147855509GA670529Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135931596852147856106CA169731Benignnot_specified|not_provided0.298210.359460.31270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135941596922147860764TC169737Benign/Likely_benignnot_specified|Microcephalic_Osteodysplastic_Pr...0.1590.127720.105830/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135956678012147862188TC670534Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135966678032147862624AG670516Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135977186942148081808GA728990Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135983405572217565932TC346957BenignFamilial_Candidiasis,_Recessive.0.794120.774961/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
135993405612217565974GC351009Benignnot_specified|Familial_Candidiasis,_Recessive.0.806570.774761/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136003405852217586471CT352040BenignImmunodeficiency_51|not_specified|Familial_Can...0.814550.811490.832270/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136013405922217589246GA351025BenignFamilial_Candidiasis,_Recessive0.15870.115330.121410/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136023406142217590744TC351038BenignFamilial_Candidiasis,_Recessive0.232960.239560.279950|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136033406222217591089GA351041BenignFamilial_Candidiasis,_Recessive..0.731030|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136043406242217591144CT351044BenignFamilial_Candidiasis,_Recessive..0.539740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136053406322217591697GA351047BenignFamilial_Candidiasis,_Recessive..0.555510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136063406452217592396GA347016Uncertain_significanceFamilial_Candidiasis,_Recessive..0.004190|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136073406702217593685GA347027BenignFamilial_Candidiasis,_Recessive..0.836660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136083407062217594886TC352116BenignFamilial_Candidiasis,_Recessive..0.487420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136093407072217594915GA337411BenignFamilial_Candidiasis,_Recessive..0.486420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136103407102217595070TG337414BenignFamilial_Candidiasis,_Recessive..0.486020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136113407302217596178TC337449BenignFamilial_Candidiasis,_Recessive..0.618610|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136123407322217596229TC347061BenignFamilial_Candidiasis,_Recessive..0.197090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136133407362217596388GC351104BenignFamilial_Candidiasis,_Recessive..0.836860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136144025262217662699AG390468Benignnot_specified0.298860.256830.18731|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136154025272217662793AG390370Benignnot_specified0.302090.256470.191891|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136164025282217662917GC390485Benignnot_specified0.29225.0.18631|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136174025292217690409GA390469Benignnot_specified0.449560.43410.31130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136183407492218560825AG352137Likely_benignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.058310|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136193407612218571008GA347074BenignPeroxisome_biogenesis_disorder_1A_(Zellweger).0.61330.422720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136203407722218571670AG352140BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.995811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136213407802218571828TC352142BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.87341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136223407862218572106TA351137BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.423120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136233407882218572371CCTTGG347084BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136243407952218572499TTCTCA351141BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136253408032218572892AG347095BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.87341/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136263408072218573122TC351144BenignPeroxisome_biogenesis_disorder_1A_(Zellweger)..0.996011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136271272672218900750GA132724Uncertain_significancenot_provided0.75880.7890.763381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136283847432219752609CT377376Benign/Likely_benignnot_specified|not_provided0.000620.000910.0010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136292633692219868218AG259118Benignnot_specified|Cardiovascular_phenotype0.79610.701240.718250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136306786472219882630GA670774Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136312634112219882984TG259130Benignnot_specified|Cardiovascular_phenotype0.270880.187880.25120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136323847182219885548GT378611Benignnot_specified0.242790.242140.242210|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136336786462219886797GA670531Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136346780392219898837AG670535Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136356786392219902896CT670540Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136366780902219905802GA670779Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136376840492219906096CT670782Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136386780852219906256GA670554Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136396786382219906306CG670565Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136402634092219906511GA259140Benignnot_specified|Cardiovascular_phenotype0.211310.146270.168130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136412633432219907099CA259137Benignnot_specified|Cardiovascular_phenotype0.295570.444490.483031/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136422633702219907118GA259134Benignnot_specified|Cardiovascular_phenotype0.453770.564880.596841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136436786372219907192AG670556Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136446786602219907346TC669526Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136452259502219929027CT227810drug_responseSelective_serotonin_reuptake_inhibitors_respon.....0.077280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136466786402219929551AG670792Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136472567852219950235CT257574Benignnot_specified0.460090.467970.371610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136482567862219951207CG257575Benignnot_specified0.327540.339170.296930/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13649175912219951271GA32630drug_responseCATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM|meth....0.472750.369210/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136502567842219956262GGC257576Benignnot_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136516841372220024174AG670569Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136526721452220031102GA669544Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136536841392220049340TC670568Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136546841472220049454AG670799Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136555183242220779768GC508939BenignMarden_Walker_like_syndrome0.65390.581410.534551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136565183252220779822GC508940BenignMarden_Walker_like_syndrome0.28769.0.242211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136573408262221213380CT352170BenignCerebral_dysgenesis,_neuropathy,_ichthyosis,_a...0.481990.547280.463861/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136583408302221213416AG337552BenignCerebral_dysgenesis,_neuropathy,_ichthyosis,_a...0.416550.535810.403551/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136593408742221244235GGT352211Uncertain_significanceCerebral_dysgenesis,_neuropathy,_ichthyosis,_a......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136605613992221336501GC553053Benignnot_provided..0.989421/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136615614092221337266GA553057Benignnot_provided0.372140.42030.357431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136625615292221342169GC553062Benignnot_provided..0.551121/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136635618402221342811CT553064Benignnot_provided..0.457870/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136645614262221344055AG553071Likely_benignnot_provided..0.052320|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136655614102221344592AC553073Benignnot_provided..0.428710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136665614112221344884CT553076Benignnot_provided..0.18750|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136675614122221344905AG553077Benignnot_provided..0.712061|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136685614132221344920GC553078Benignnot_provided..0.413740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136695616642221345000CT553080Likely_benignnot_provided..0.053510/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136705619312221345613GC553081Likely_benignnot_provided..0.054910/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136715615822221346277CT553086Benignnot_provided..0.18570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136723794132221346485TC378633Benignnot_provided0.73120.707030.643970/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136735614142221346719AC553088Benignnot_provided..0.591651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136745614272221347029GA553089Likely_benignnot_provided..0.053710/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136755616672221347349GA553092Likely_benignnot_provided..0.052720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136765616682221347410GT553094Likely_benignnot_provided..0.052120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136775618412221347505CT553095Benignnot_provided..0.850441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136785614152221348084TC553097Benignnot_provided0.779890.753410.743011/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136795614282221348101GA553098Likely_benignnot_provided..0.050921/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136805614182221349037AG553102Benignnot_provided0.80308.0.75221/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136815616692221349480AG553106Likely_benignnot_provided..0.051720/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136825614192221350461AG553111Benignnot_provided..0.754391/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136835614212221350936GA553113Benignnot_provided0.316390.291280.208670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136847691532223652503TC778692Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136853799532224108412GA378642BenignSpinal_muscular_atrophy,_jokela_type|not_speci...0.80501.0.729831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136863799522224109550TC378643Benignnot_specified0.923850.878880.871011|1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136873799512224109774TG377411Benignnot_specified.0.821710.87581/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136886840972224129005TG670574Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136896840982224134394TC669573Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136901333922224143502CG137131not_providednot_specified.0.793940.711661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136916770982224145727CT670805Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136926771022224159307AT670813Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136938036462224717850AG792021BenignHypertelorism,_Teebi_type...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136948036472224761467GA792022BenignHypertelorism,_Teebi_type...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136952259742224825511CT227811drug_responsecaffeine_response_-_Toxicity/ADR..0.400560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136961001542224891292CG106031BenignDeficiency_of_beta-ureidopropionase|not_provided..0.532750/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136973409472225597331TC347213BenignCongenital_nuclear_cataract|not_provided0.61164.0.654951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136982592292225601196CG257578BenignCongenital_nuclear_cataract|not_specified|not_...0.575430.655760.664141/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
136993409652226847586GT351236BenignHermansky-Pudlak_syndrome..0.855831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137001636702226853905CA176369BenignHermansky-Pudlak_syndrome|not_specified0.868520.881930.827281/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137012615332226853980TC257585Benignnot_specified0.888310.901620.852841/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137021636712226854441GA176247BenignHermansky-Pudlak_syndrome|not_specified0.868910.881770.827481/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137031636722226859942CT176370BenignHermansky-Pudlak_syndrome|not_specified0.82047.0.793131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137041636732226860269GC176248BenignHermansky-Pudlak_syndrome|not_specified0.378060.382920.354231/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137052615382226861545AG257588Benignnot_specified0.839230.867420.818491/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137062615372226862153CA257589Benignnot_specified.0.84870.790741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137071636742226862212TC176371BenignHermansky-Pudlak_syndrome|not_specified0.820540.848680.793131/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137083410282226877981GA352322BenignHermansky-Pudlak_syndrome..0.789541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137093410292226878024AG337688BenignHermansky-Pudlak_syndrome..0.866811/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137103410332226879691TC347260Likely_benignHermansky-Pudlak_syndrome..0.06490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137113410402226879823CA347269BenignHermansky-Pudlak_syndrome.0.83130.789541/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137126771632227019128CT669609Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137136676372227021189AG669612Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137146772312227021401GA669615Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137152584862227021425AG257592Benignnot_specified|not_provided0.571280.514920.588260|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137162584872227021457TC257593Benignnot_specified|not_provided0.873370.892650.923721/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137176740082227024504CT670609Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137187231082228379016CT742837Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137195222772229885567AAAAGTCCCCTGAGAAGGCC512967BenignAmyotrophic_lateral_sclerosis_type_1|not_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13720667432229886413AG77640BenignAmyotrophic_lateral_sclerosis_type_1|not_provided0.800860.818980.850441/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137216837992229999236GC670593Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137223410652229999784CA337721BenignNeurofibromatosis,_type_2|not_provided..0.351840|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137233410662229999878GC352335BenignNeurofibromatosis,_type_2..0.870211/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137246769852230034994GT670831Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137256769862230054024GA670626Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137266769872230056945GA670628Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137276769882230057574AG670596Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137286769892230064117CT669628Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137296838032230064731AG669630Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137308036762230077361GA792051BenignNeurofibromatosis,_type_2...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137316769912230079213TC670599Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137323411312230092813GGT351324BenignNeurofibromatosis,_type_2...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137333411492230093259CG347385BenignNeurofibromatosis,_type_2..0.262980|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137343411572230093667TC352370BenignNeurofibromatosis,_type_2..0.265380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137353693752231003069CT353604Likely_benignTranscobalamin_II_deficiency..0.105031|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137363411832231003138AG352382BenignTranscobalamin_II_deficiency..0.554510|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13737972231011610GC15136BenignTRANSCOBALAMIN_II_POLYMORPHISM|Transcobalamin_.....0.579670/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation/97
137383412192231022635CT347426Likely_benignTranscobalamin_II_deficiency..0.067490|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137392576612232266603AG257607BenignSeizures|Epilepsy,_familial_focal,_with_variab...0.023570.021730.020370|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137403412752232506906CT352408BenignCongenital_glucose-galactose_malabsorption..0.588260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137413412962232508457AG351413BenignCongenital_glucose-galactose_malabsorption..0.963661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137423412992232870769CT352418BenignParkinson_Disease,_Recessive..0.538340/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137431952752232875190GA192436BenignParkinson_disease_15|not_specified|Parkinson_D...0.372290.440030.487420|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137443413142232887150CT347523BenignParkinson_disease_15|Parkinson_Disease,_Recessive0.372210.439950.487620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137453413282233197074AG352436BenignPseudoinflammatory_fundus_dystrophy..0.341850|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137462559432233253280TC257609BenignPseudoinflammatory_fundus_dystrophy|not_specified0.612720.551810.650960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137473413742233257163GGA337929Uncertain_significancePseudoinflammatory_fundus_dystrophy...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137486830572233733995CT669642Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137496830172233960676AG670859Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137506830042234000230TC670621Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137516840502234157814TC670896Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137526666142236661842GA654927Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137533414692236677914AG338008BenignMYH9-related_disorder|Nonsyndromic_Hearing_Los.....0.178120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137543414752236678118CT338013BenignMYH9-related_disorder|Nonsyndromic_Hearing_Los.....0.220250/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13755389672236684354TC47570BenignMacrothrombocytopenia_and_granulocyte_inclusio...0.155540.258410.294130|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13756445652236684358CA53732BenignMYH9-related_disorder|not_specified|Nonsyndrom...0.155160.258150.293730|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137572587452236690113GA257631Benignnot_specified0.633420.591650.485620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13758445592236691607AC53726BenignMYH9-related_disorder|not_specified|Nonsyndrom...0.97124.0.982631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137592587302236708049CTCCTGTGAC257646Benignnot_specified|not_provided.0.262820.301121/0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13760445512236708084CT53718BenignMYH9-related_disorder|not_specified|Nonsyndrom...0.75550.871390.760781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13761445502236710183TC53717BenignMYH9-related_disorder|not_specified|Nonsyndrom...0.534680.561420.393570/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137621982012237267767AG195362Benignnot_specified0.632780.703320.6271/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137632603082237271882TC257666BenignChronic_granulomatous_disease|Granulomatous_di...0.870060.833730.828081/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137642627262237462926GA257669BenignMicrocytic_anemia|not_specified0.390050.365450.356031/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137652627252237462936AG257670BenignMicrocytic_anemia|not_specified0.65862.0.604631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137662627242237465385CTGGGGC257671BenignMicrocytic_anemia|not_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137672627222237469591GA257672BenignMicrocytic_anemia|not_specified0.604880.539020.543531/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137682627192237480797CT257675BenignMicrocytic_anemia|not_specified0.348410.382670.31291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137692627282237485724TC257676BenignMicrocytic_anemia|not_specified0.396170.397930.390381/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137703416062237499692AG352542BenignMicrocytic_anemia..0.284740|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137713693792237499699CT353608BenignMicrocytic_anemia..0.317290|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137721388642237622815AG142567Benignnot_specified0.225320.170260.24740/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13773144722237972628GA29511risk_factorMyocardial_infarction...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137745081102238119213GA508413Benignnot_specified0.543730.569660.526561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137751984472238119754TCAAT195608BenignDeafness,_autosomal_recessive_28|not_specified...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137765081112238121152CA507585Benignnot_specified0.346410.392480.336260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137775167662238122122TC508147Benignnot_specified0.35010.393390.336660/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137782868302238122448CT271067Benignnot_specified0.341940.442060.336660|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137792868312238122462AG271068Benignnot_specified0.631050.74120.601040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13780438512238129332GA53020Benignnot_specified0.350260.389790.337260/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13781438552238130472TC53024Benignnot_specified0.964740.96530.982631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137822572252238161835TTG257683Benignnot_specified...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137833416142238369027CT352544BenignPeripheral_demyelinating_neuropathy,_central_d.....0.608431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137842270812238369976AG231226BenignPeripheral_demyelinating_neuropathy,_central_d...0.695830.653680.713261/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137856708822240757228AC670672Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137866781022240759308AG669684Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137873417132241325068GA347823BenignNephronophthisis-Like_Nephropathy..0.594651/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13788937322241537234GT99635BenignRubinstein-Taybi_syndrome_1|not_specified.0.989180.961661/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13789937362241548008AG99639BenignRubinstein-Taybi_syndrome_1|not_specified0.205830.295930.223440/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13790937382241551039TA99641BenignRubinstein-Taybi_syndrome_1|not_specified0.583120.657250.673921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13791937412241566595CT99644Benignnot_specified0.228130.301080.24840/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13792937422241569609CT99645Benignnot_specified0.258150.308470.264180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137931585552241574969TGTAT169838BenignRubinstein-Taybi_syndrome_1|not_specified...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137941282562241903813AC133705Benignnot_specified|not_provided0.257960.321050.418330/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137951282572241911525CT133706Benignnot_specified|not_provided0.383750.399270.270370/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137966780962241913844AG670674Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137971362632241914593CT139966Benignnot_specified0.323930.337110.484430|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137986831132241914860TG669696Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
137996780972241916001CG669698Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138006831422241921665AG670678Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138016780982241923644GA670682Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138023418852242454354GA351725BenignKanzaki_disease|Schindler_disease,_type_1..0.647561/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138033418912242454950AG351735BenignKanzaki_disease|Schindler_disease,_type_1..0.459470/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138041980622242461918GA195223BenignKanzaki_disease|Schindler_disease,_type_1|not_...0.23220.171380.168130/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138056826452242463366CT670696Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138066826442242463689TC670919Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138071962422242463814CT193403BenignKanzaki_disease|Schindler_disease,_type_1|not_...0.642550.67280.676921/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138083419172242466509CG352623BenignKanzaki_disease|Schindler_disease,_type_1|not_.....0.642371/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138096842922242466905CT670700Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138106826432242466950CT670651Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138116826422242466980AT669700Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138125168892242522613GC508193Likely_benignnot_specified0.408320.455560.401160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138135168902242523943AG508196Likely_benignnot_specified0.599550.656660.640781/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13814168892242524947CT31928drug_responseDebrisoquine,_poor_metabolism_of|not_specified...0.151050.170760.093050/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13815168932242526694GA31932Likely_benign,_otherDebrisoquine,_poor_metabolism_of|not_specified....0.246690.238020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138164035772243447891CT390488Benignnot_specified0.03575.0.015580/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138174035792243455531CT390421Benignnot_specified0.232660.260670.148160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138184035802243459846GA390425Benignnot_specified0.233350.248090.148560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138193419432244342116AG348026Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Dis...0.680380.677810.787741/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138203419492244342325CT348031Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Dis.....0.246610/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138213419542244342941TTAA338402Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Dis......0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138223419562244343009TA348034Likely_benignSusceptibility_to_Nonalcoholic_Fatty_Liver_Dis.....0.164940/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138233419702245683042CT348048Uncertain_significanceRenal_hypodysplasia/aplasia_18e-050.000140.00020/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138243419742245683246CT338422Benign/Likely_benignRenal_hypodysplasia/aplasia_10.611870.697090.548120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138253419772245683304GC338423Benign/Likely_benignRenal_hypodysplasia/aplasia_10.789140.778820.774360/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1382612902246731689GT16329BenignDeafness,_mitochondrial,_modifier_of|Liver_fai....0.19670.105631/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138276716982246748310TC670657Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138286764322246752080GC670714Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138293420282246753179GA348087BenignLiver_failure_acute_infantile..0.193291/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138303420322250297034CCTC338484Likely_benignCongenital_disorder_of_glycosylation.0.114070.066490/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138313420382250297435TC351793BenignCongenital_disorder_of_glycosylation0.380930.27490.402160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13832960952250297888TC101989Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.091340.112150.091650/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13833961022250301476TC101996BenignCongenital_disorder_of_glycosylation|not_speci...0.383360.270370.402160/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138342616882250302850AG257696Benignnot_specified0.382820.270440.401960/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138352616872250303515AC257697Benignnot_specified0.25465.0.265380|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13836960982250303530TC101992Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.254880.223720.265580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13837960992250303533CG101993Benign/Likely_benignCongenital_disorder_of_glycosylation|not_speci...0.254880.223790.265580|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13838960962250307184GT101990Benignnot_specified0.079350.093490.070290/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138393420662250311973AG351806Likely_benignCongenital_disorder_of_glycosylation..0.25120|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138403420672250311989AACA338526Likely_benignCongenital_disorder_of_glycosylation...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138413420682250312035CT352662Likely_benignCongenital_disorder_of_glycosylation..0.244810/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138427708202250315936CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGC778490Benignnot_provided...0|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138432624562250499964TC257699BenignMegalencephalic_leukoencephalopathy_with_subco...0.229240.297420.282951/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138442605732250518723AG257708Benignnot_specified0.9460.951450.973641/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138453421192250524250GGC348156BenignMegalencephalic_leukoencephalopathy_with_subco......1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138465183272250658053AG508942BenignMicrocephaly_and_chorioretinopathy,_autosomal_...0.959480.965960.982431/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138475183292250664612AG508944BenignMicrocephaly_and_chorioretinopathy,_autosomal_...0.824390.791190.858831/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138482588812250885775AG257710Benignnot_specified0.523320.51760.5010/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138491390872250962078GT142790Conflicting_interpretations_of_pathogenicityHepatic_failure,_early-onset,_and_neurologic_d...0.008610.005840.00180/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138501390862250962208TG142789BenignHepatic_failure,_early-onset,_and_neurologic_d...0.635090.638350.655550|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138511390822250962782CG142785BenignHepatic_failure,_early-onset,_and_neurologic_d...0.63069.0.651560/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138521390812250963905CT142784BenignHepatic_failure,_early-onset,_and_neurologic_d.....0.142970|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138533421302250963965CG351827BenignHepatic_failure,_early-onset,_and_neurologic_d.....0.533951|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138541306932250964236GA136139BenignMitochondrial_DNA_depletion_syndrome_1_(MNGIE_...0.06836.0.142770|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138551378782250964255CT141581Benign/Likely_benignMitochondrial_DNA_depletion_syndrome_1_(MNGIE_...0.037840.054540.023761|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138561306942250964862GA136140BenignHepatic_failure,_early-onset,_and_neurologic_d...0.630480.672130.532950/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138576716182250966914TC670728Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138586702622250967269AG669706Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138591287292251020668CA134178Benignnot_specified|Congenital_Muscular_Dystrophy,_C...0.56940.700720.703280/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138606680852251021579AC669723Benignnot_provided...1/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138616680842251021599CT669726Benignnot_provided...0/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138623422052251062222GC348215BenignMetachromatic_leukodystrophy..0.476240/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138633422142251062654TC352699BenignMetachromatic_leukodystrophy..0.834860|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138643422162251062718CT351896BenignMetachromatic_leukodystrophy..0.349040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138653422212251062891CG348232BenignMetachromatic_leukodystrophy..0.351040|1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138663422272251063233AT351906Likely_benignMetachromatic_leukodystrophy..0.113621|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13867931182251063987GC99025Benignnot_specified|not_provided0.749920.797690.819090/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13868211842251064039GC34036BenignMetachromatic_leukodystrophy|not_specified|not...0.484080.484310.405550/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138696720542251066921GA670684Benignnot_provided...1|0HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138704034312251117580TC390489BenignHistory_of_neurodevelopmental_disorder|not_spe...0.479980.511550.343251/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
138714023352251182485AG390377Benignnot_specified|not_provided.0.661270.638380/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
1387293092X591926TG98999Benignnot_specified|not_provided0.96725.0.958681/1HOMhttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13873265860X605654AAAG260560Uncertain_significanceShort_stature,_idiopathic,_X-linked..0.122120/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13874178717X1422868GA178252Benignnot_specified0.379830.37150.326620/1HEThttps://www.ncbi.nlm.nih.gov/clinvar/variation...
13875379979X2748253GC380029Benignnot_specified0.926510.957680.918681.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13876684112X2748421GA670773Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13877684114X2772398TG670781Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13878684117X2772792CT669917Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13879684124X2777560AG671107Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13880379982X2777985CT379223Benignnot_specified0.607710.701640.578281.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13881684126X2778322GA669922Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13882684129X2778433CG670885Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13883684131X2779330TC671108Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13884379983X2779570AG378170Benignnot_specified0.59180.667820.575361.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13885157730X2852951GA167578Benignnot_specified|not_provided0.458090.625980.565831.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13886157728X2856155CT167576BenignChondrodysplasia_punctata_1,_X-linked_recessiv...0.492230.65930.574571.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13887667510X2861459GC669926Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13888674716X2877835GA671112Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13889769169X3228653GC706214Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1389095987X5821786GA101883BenignHistory_of_neurodevelopmental_disorder|not_spe...0.142760.113690.12081.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13891255564X8503641GA257885Benignnot_specified0.551930.569480.481851.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13892673328X8504652TC671095Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13893255563X8504833CT257886Benignnot_specified0.563570.591570.488211.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13894667655X8508062CT671188Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13895129215X11133069CT134661BenignHistory_of_neurodevelopmental_disorder|not_spe...0.021770.018380.008481.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1389695614X12722616CG101512Benignnot_specified0.994790.992850.995231.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13897367968X13730787GC338927BenignSpondyloepiphyseal_dysplasia..0.772981.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13898367970X13731222CAC338933BenignSpondyloepiphyseal_dysplasia...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13899367978X13731569CCAAAAAAAA348506BenignSpondyloepiphyseal_dysplasia...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13900367981X13731696CG352077BenignSpondyloepiphyseal_dysplasia..0.696691.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390141157X13752895GT49579BenignOrofaciodigital_syndrome_I..0.376691.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390294370X13771576AG100270Benignnot_specified0.234020.336120.383841.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13903691313X14862279TC678986Likely_benignHypothyroidism,_central,_and_testicular_enlarg......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13904691312X14862289AG678987Likely_benignHypothyroidism,_central,_and_testicular_enlarg......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390593467X14868806AG99372BenignVACTERL_association_with_hydrocephalus|Hypothy...0.553910.563760.433641.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13906691303X14882553TG678995Likely_benignHypothyroidism,_central,_and_testicular_enlarg......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13907691297X14883948GA679001Likely_benignHypothyroidism,_central,_and_testicular_enlarg......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13908368036X14887147CG352786BenignVACTERL_association_with_hydrocephalus|Hypothy.....0.525561.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390996644X17705850CCT102537Benign/Likely_benignnot_specified...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13910136713X18638082AC140416BenignHistory_of_neurodevelopmental_disorder|not_spe...0.033080.039760.016691.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1391196546X23398214TC102440BenignHistory_of_neurodevelopmental_disorder|not_spe...0.707090.594250.63551.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13912128994X24073761CT134440Likely_benignnot_specified0.50014.0.363181.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13913368183X28605876GTG352823BenignNon-syndromic_X-linked_intellectual_disability...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13914680543X31198204AG670807Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1391594854X31224684AG100754Benign/Likely_benignDilated_cardiomyopathy_3B|not_specified0.826470.883610.803971.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13916671240X31224881GA671117Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13917672561X31224994AG670811Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13918678092X31225071AG669960Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13919678473X31225080GGAA669963Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13920680541X31225499AG671119Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13921680544X31240905CA671121Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13922672560X31241026AG670823Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13923671291X31279271TC669971Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13924680538X31332258CA671123Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13925680536X31332294CT671124Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13926166667X31496350CT177478BenignDuchenne_muscular_dystrophy|not_specified0.956820.904520.881851.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1392794783X31676096GA100683Benign/Likely_benignDilated_cardiomyopathy_3B|not_specified0.338890.339780.328481.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13928679287X31792559GA670940Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13929672525X31838359TG670949Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13930674303X31893149CG670951Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13931671088X31897253GA670832Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13932439609X31986430CA433498Benignnot_specified|not_provided0.263720.329350.329011.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13933671238X31986774CT669996Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13934672522X32328572CT670967Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13935679286X32363822CT670980Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1393694657X32380996CT100557Benign/Likely_benignDuchenne_muscular_dystrophy|Dilated_cardiomyop...0.333110.514170.465171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13937671085X32383034CT670009Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13938672517X32383469CT671134Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13939672488X32536452AG670865Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13940680537X32562998TC670867Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13941679284X32563054CT670039Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1394294495X32563263AG100395Benign/Likely_benignDilated_cardiomyopathy_3B|not_specified0.324720.320350.412191.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13943671082X32614103CT670874Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13944671081X32614116CA671141Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13945680546X32614247AG670046Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13946680545X32632856AG671024Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13947674341X32662122CT671143Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13948671236X32827465AG670883Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13949678471X33192255GA670061Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1395098793X38170067AG104683Likely_benignnot_specified|not_provided0.037780.018730.041321.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1395192856X38182792CT98763Benignnot_specified0.210440.228180.371921.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13952680701X38262566AG671038Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13953676164X38262808GA671150Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13954680703X38272193TC670065Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1395595772X39911657CA101669BenignOculofaciocardiodental_syndrome|History_of_neu...0.190720.157650.136691.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13956668777X40447956TTTTTG670927Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13957680088X41412729TC671054Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13958668858X41448495GT670096Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13959368312X46740032GA352863BenignRetinitis_pigmentosa_15..0.983581.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13960368331X47061018CG352254BenignSpinal_muscular_atrophy,_X-linked_2|not_specif...0.98921.0.971131.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13961368382X47327111TC352264BenignNon-syndromic_X-linked_intellectual_disability..0.779341.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13962720215X47446041GA729615Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1396396364X47466361AG102258BenignHistory_of_neurodevelopmental_disorder|not_spe...0.398280.380820.368741.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13964402535X47483800GA390437Benignnot_specified0.238190.228720.206891.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13965158531X48382174GT170112Benignnot_specified0.29272.0.315231.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1396695309X48759204CT101208BenignRenpenning_syndrome_1|History_of_neurodevelopm...0.573610.612380.625431.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13967197791X48935284CA194952Benignnot_specified0.043820.081070.017481.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13968166778X49075777CT177540Benign/Likely_benignnot_specified|not_provided0.043650.052810.018811.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13969284920X49105610TC269157Benignnot_specified0.523820.556270.475231.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13970804001X49767835AG792471BenignDent_disease_1...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397195973X50350674TC101869Benignnot_specified0.31052.0.299871.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397295971X50350728TTTCC101867Benignnot_specified...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397394872X53228148CA100772Benignnot_specified0.782920.891980.730331.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13974683643X53278322TC671165Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397595364X53449568GA101263Benignnot_specified|Cornelia_de_Lange_Syndrome0.406040.516290.398411.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397696203X53563589AG102097BenignHistory_of_neurodevelopmental_disorder|not_spe...0.991950.997340.994971.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13977129253X53641647TC134699BenignHistory_of_neurodevelopmental_disorder|not_spe...0.377920.489550.389671.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397896550X57474943AT102443Benignnot_specified0.904190.973720.914441.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13979667774X67431814AG671077Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13980667771X67432299CT671168Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13981667769X67652513AG670134Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1398244207X69250308CT53374Benignnot_specified0.30790.344180.221721.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13983287265X69672462GC271502Benignnot_specified0.266530.334320.346761.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13984670932X70338399AG670962Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13985259633X70339498CT257867Benign/Likely_benignnot_specified|not_provided0.231350.233170.111261.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13986683968X70340322CG670964Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13987674293X70340738AG671170Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1398895257X70341169AC101156Benignnot_specified|not_provided0.236770.222980.114171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13989674530X70342820AG670970Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13990673346X70343621AG671172Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13991674295X70344331GC671173Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13992673347X70344763GT671078Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13993674531X70345683TG670973Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13994674532X70348344GA670976Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1399595248X70349947AC101147BenignHistory_of_neurodevelopmental_disorder|not_spe...0.225910.246110.110991.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13996259637X70352417TC257871Benignnot_specified|not_provided0.238610.238370.118151.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13997674533X70352516AG671174Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13998674534X70355258CTTC670982Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
13999683154X70355882AT670983Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14000673789X70355942GC671175Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14001673790X70356642TC670148Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14002673791X70361608TC670986Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14003673349X70361967GA671081Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14004667467X73740502TC670162Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14005159903X73749319TG170185Likely_benignnot_specified0.590010.605770.343841.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14006678099X77166449TC671086Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1400792384X77298857GA98295BenignMenkes_kinky-hair_syndrome|History_of_neurodev....111.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14008368680X79925246AG352952BenignNon-syndromic_X-linked_intellectual_disability..0.521061.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14009368720X79931831CGTGTC339605BenignNon-syndromic_X-linked_intellectual_disability...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14010281080X79943569TC265317Benignnot_specified0.990250.99720.989671.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14011811240X82764040AGGGGC800324BenignDeafness,_X-linked_2...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14012130847X84501033CT136291BenignNon-syndromic_X-linked_intellectual_disability.....0.233641.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14013368751X84526987AG339626BenignNon-syndromic_X-linked_intellectual_disability..0.233111.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14014368755X84527466AG349119BenignPremature_ovarian_failure_2b|Non-syndromic_X-l.....0.233381.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14015368762X84532801CT352978BenignPremature_ovarian_failure_2b|Non-syndromic_X-l.....0.233111.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14016368763X84532996TG352979BenignPremature_ovarian_failure_2b|Non-syndromic_X-l.....0.233911.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14017368767X84533408GT352466BenignPremature_ovarian_failure_2b..0.234171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14018368771X84533758AG352983BenignPremature_ovarian_failure_2b..0.135891.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14019368776X84534115TG352985BenignPremature_ovarian_failure_2b..0.233911.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14020368780X84534383AC339631BenignPremature_ovarian_failure_2b0.994120.621230.988611.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14021368787X84563135TA352472BenignPremature_ovarian_failure_2b0.830540.8530.912051.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14022670593X99665285GA670946Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14023670592X99665333CG669731Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14024670790X99919733GA670948Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14025667526X99920975GA670691Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14026691856X102436640TC679561Benignnot_specified...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14027691854X103036909AGA679563Benignnot_specified...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14028670482X103040400TC669752Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14029258270X107418906AG257731Benignnot_specified0.983050.995110.983841.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14030258267X107433688AG257734Benignnot_specified0.742590.685130.573251.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14031369632X110464173CAC353861BenignNon-syndromic_X-linked_intellectual_disability...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14032238289X110963338TC243731BenignHistory_of_neurodevelopmental_disorder|Epilept...0.013050.018620.00531.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14033676336X113818582GC656729Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
140349885X113965735GC24924BenignSEROTONIN_5-HT-2C_RECEPTOR_POLYMORPHISM|not_pr....0.154370.165831.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14035684056X118972782AG670784Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14036673765X118977332AG670789Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14037670475X118985598CT670985Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14038684051X118987177TC670993Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14039367743X119560599TC351990Likely_benignHypertrophic_cardiomyopathy|Danon_disease..0.709671.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14040679266X119691591TC669829Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14041367863X123047453TA348434BenignLymphoproliferative_syndrome.0.041830.021721.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14042367875X123505439GAG348443BenignLymphoproliferative_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14043367885X123506562AG352057BenignLymphoproliferative_syndrome..0.188611.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14044804084X128674631TTG792121BenignLowe_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1404511567X128870791CA26606risk_factorAngioedema_induced_by_ACE_inhibitors,_suscepti.....0.230991.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14046197828X128957640TC194989Benignnot_specified0.932970.906960.800531.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14047683838X129265394AG670718Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14048677968X129269780GC670721Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14049367892X129283520AG352059BenignDeafness,_X-linked_5|Combined_oxidative_phosph...0.50980.432940.491131.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14050677967X129283786AG670810Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14051257593X130416958CT257749BenignHypothyroidism,_central,_and_testicular_enlarg...0.88820.968280.906231.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14052670935X133511988GA670725Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1405394028X148055144AG99930Benignnot_specified0.935060.982910.954171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1405492619X148582549GA98527BenignMucopolysaccharidosis,_MPS-II|History_of_neuro...0.343080.278310.192581.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14055159450X152018832TG170076Benignnot_specified0.82070.876370.861461.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14056518408X152807923GC508950BenignSpinocerebellar_ataxia,_X-linked_10.990250.996960.988611.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14057518409X152815089AG508951BenignSpinocerebellar_ataxia,_X-linked_10.989490.996680.985431.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14058518410X152821887CT508952BenignSpinocerebellar_ataxia,_X-linked_10.940940.982210.94571.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14059518411X152823728GC508953BenignSpinocerebellar_ataxia,_X-linked_10.389380.52860.473911.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14060518412X152825414GT508954BenignSpinocerebellar_ataxia,_X-linked_10.852690.931660.881061.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14061130355X152954025AG135802BenignCreatine_deficiency,_X-linked|History_of_neuro....1.1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14062439347X153008911CT433335Benignnot_specified0.575270.650420.613511.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14063166627X153008970CT177456Benign/Likely_benignAdrenoleukodystrophy|History_of_neurodevelopme...0.0128.0.010331.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1406492313X153009197GC98224BenignAdrenoleukodystrophy|History_of_neurodevelopme...0.758850.719650.74041.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14065368066X153010066CT352124BenignAdrenoleukodystrophy..0.731131.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14066368067X153010083GA339037BenignAdrenoleukodystrophy..0.459871.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14067369635X153010224CT353864BenignAdrenoleukodystrophy..0.738541.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14068804115X153151280GGCC792154BenignX-linked_hydrocephalus_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14069804116X153151284GTG792155BenignX-linked_hydrocephalus_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14070804117X153151423GGCGGC792156Likely_benignX-linked_hydrocephalus_syndrome...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14071254772X153170980TG257778Benign/Likely_benignNephrogenic_diabetes_insipidus|Nephrogenic_dia....0.99930.999211.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14072402391X153176254AG390496Benignnot_specified0.557980.591330.70491.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1407395281X153215839GA101180Benignnot_specified0.43930.431990.191261.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14074156056X153297392AG165852Benignnot_specified|not_provided..0.630461.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14075167075X153577722TC177710Benign/Likely_benignConnective_tissue_disorder|not_specified|not_p...0.000720.000550.000531.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14076670955X153579448AG669893Benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1407795327X153629155AG101226BenignHistory_of_neurodevelopmental_disorder|not_spe....0.826080.668871.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14078368091X153649813GC352797BenignEndocardial_fibroelastosis|Left_ventricular_no......1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14079129149X153667176TC134595BenignHistory_of_neurodevelopmental_disorder|not_spe...0.309760.188820.290861.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14080726401X153694535GC743254Likely_benignnot_provided...1.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14081368096X153759858TC352799Likely_benignGlucose_6_phosphate_dehydrogenase_deficiency..0.415361.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1408293494X153760508AG99399Benign/Likely_benignGlucose_6_phosphate_dehydrogenase_deficiency|n...0.392350.254390.414831.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14083166994X153994596GT177673Benign/Likely_benignDyskeratosis_congenita_X-linked|not_specified0.991860.997440.992581.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14084368105X154064200CT339078BenignHemophilia_A,_FVIII_Deficiency..0.556031.https://www.ncbi.nlm.nih.gov/clinvar/variation...
14085368133X154488432GA339086BenignNon-syndromic_X-linked_intellectual_disability..0.403971.https://www.ncbi.nlm.nih.gov/clinvar/variation...
1408693695X154507173TG99598Benignnot_specified0.351510.284380.354171.https://www.ncbi.nlm.nih.gov/clinvar/variation...
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