ABHD12 — 560 ClinVar variants
All ClinVar germline ABHD12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →
29 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 27 Conflicting · 47 Benign · 4 Benign/Likely benign · 203 Likely benign · 230 Uncertain significance
Full ABHD12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 205
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 107
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ABHD12 p.Ala152Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Ala18Gly Uncertain significance Multiple submitters
-
ABHD12 p.Ala330Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Ala61Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Ala9Val
Uncertain significance
Multiple submitters
PHARC syndrome
-
ABHD12 p.Arg186Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Arg218Gln
Uncertain significance
Multiple submitters
PHARC syndrome
-
ABHD12 p.Arg218Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Arg292Gln
Uncertain significance
Multiple submitters
PHARC syndrome
-
ABHD12 p.Arg355Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Arg71Cys Uncertain significance Multiple submitters
-
ABHD12 p.Cys323Arg
Uncertain significance
Multiple submitters
PHARC syndrome
-
ABHD12 p.Gln397Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Glu13Asp Uncertain significance Multiple submitters
-
ABHD12 p.Gly182Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Gly207Ser Uncertain significance Multiple submitters
-
ABHD12 p.Gly207Val
Uncertain significance
Multiple submitters
PHARC syndrome
-
ABHD12 p.Gly219Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Gly24Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Gly57Glu Uncertain significance Multiple submitters
-
ABHD12 p.His12Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Ile84Val
Uncertain significance
Multiple submitters
PHARC syndrome
- ABHD12 p.Ile90Val Uncertain significance Multiple submitters
- ABHD12 p.Leu30Val Uncertain significance Multiple submitters
-
ABHD12 p.Leu36Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Leu76Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Met158Thr Uncertain significance Multiple submitters
-
ABHD12 p.Phe275Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Phe364Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Pro7Ser Uncertain significance Multiple submitters
-
ABHD12 p.Pro87Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
ABHD12 p.Ser392Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Thr249Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Val200Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Val251Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Val68Ala
Uncertain significance
Multiple submitters
PHARC syndrome
-
ABHD12 p.Ala46Gly
Uncertain significance
Single submitter
PHARC syndrome
- ABHD12 p.Ala53Pro Uncertain significance Single submitter
- ABHD12 p.Ala54Ser Uncertain significance Single submitter
-
ABHD12 p.Ala61Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Ala85Asp Uncertain significance Single submitter
- ABHD12 p.Ala98Val Uncertain significance Single submitter
-
ABHD12 p.Ala9Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Arg181Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Arg352Gln Uncertain significance Single submitter
- ABHD12 p.Arg386Lys Uncertain significance Single submitter
- ABHD12 p.Arg41Cys Uncertain significance Single submitter
- ABHD12 p.Arg64Lys Uncertain significance Single submitter
-
ABHD12 p.Arg71Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Asn151His Uncertain significance Single submitter
- ABHD12 p.Asn277Ser Uncertain significance Single submitter
- ABHD12 p.Asp113Tyr Uncertain significance Single submitter
- ABHD12 p.Asp113Val Uncertain significance Single submitter
- ABHD12 p.Asp135Asn Uncertain significance Single submitter
- ABHD12 p.Asp184Asn Uncertain significance Single submitter
- ABHD12 p.Asp229Glu Uncertain significance Single submitter
- ABHD12 p.Asp237Gly Uncertain significance Single submitter
- ABHD12 p.Cys78Tyr Uncertain significance Single submitter
- ABHD12 p.Glu263Gly Uncertain significance Single submitter
- ABHD12 p.Glu395Lys Uncertain significance Single submitter
- ABHD12 p.Gly139Arg Uncertain significance Single submitter
- ABHD12 p.Gly176Glu Uncertain significance Single submitter
- ABHD12 p.Gly179Ala Uncertain significance Single submitter
- ABHD12 p.Gly183Asp Uncertain significance Single submitter
-
ABHD12 p.Gly236Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Gly24Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Gly341Asp Uncertain significance Single submitter
- ABHD12 p.Gly44Arg Uncertain significance Single submitter
- ABHD12 p.Gly67Cys Uncertain significance Single submitter
-
ABHD12 p.His12Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.His199Tyr Uncertain significance Single submitter
- ABHD12 p.His245Tyr Uncertain significance Single submitter
- ABHD12 p.His372Tyr Uncertain significance Single submitter
- ABHD12 p.His398Tyr Uncertain significance Single submitter
- ABHD12 p.Ile310Thr Uncertain significance Single submitter
-
ABHD12 p.Ile96Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Leu122Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Leu269Pro Uncertain significance Single submitter
- ABHD12 p.Leu326Phe Uncertain significance Single submitter
- ABHD12 p.Leu92Arg Uncertain significance Single submitter
- ABHD12 p.Leu92Pro Uncertain significance Single submitter
- ABHD12 p.Lys191Arg Uncertain significance Single submitter
- ABHD12 p.Lys311Asn Uncertain significance Single submitter
-
ABHD12 p.Lys311Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Phe77Ser Uncertain significance Single submitter
- ABHD12 p.Pro117Thr Uncertain significance Single submitter
-
ABHD12 p.Pro295Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Pro45Arg Uncertain significance Single submitter
- ABHD12 p.Pro50Leu Uncertain significance Single submitter
-
ABHD12 p.Pro7Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Ser308Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Thr125Met Uncertain significance Single submitter
- ABHD12 p.Thr253Arg Uncertain significance Single submitter
-
ABHD12 p.Thr264Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Thr276Ala Uncertain significance Single submitter
- ABHD12 p.Thr276Ile Uncertain significance Single submitter
- ABHD12 p.Thr306Ile Uncertain significance Single submitter
- ABHD12 p.Thr43Arg Uncertain significance Single submitter
- ABHD12 p.Trp243Gly Uncertain significance Single submitter
- ABHD12 p.Trp299Arg Uncertain significance Single submitter
- ABHD12 p.Tyr222Cys Uncertain significance Single submitter
- ABHD12 p.Tyr291His Uncertain significance Single submitter
- ABHD12 p.Val106Ile Uncertain significance Single submitter
- ABHD12 p.Val336Met Uncertain significance Single submitter
- ABHD12 p.Val359Ile Uncertain significance Single submitter
-
ABHD12 p.Gly209Arg
Uncertain significance
No assertion criteria
inherited retinal dystrophy
- ABHD12 p.Phe312Cys Uncertain significance No assertion criteria
Predictors split 94
The independent predictors disagree with each other — read with care.
- ABHD12 p.Ala178Thr Uncertain significance Multiple submitters
-
ABHD12 p.Ala29Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Ala348Thr Uncertain significance Multiple submitters
-
ABHD12 p.Ala348Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Ala349Thr
Benign
Multiple submitters
PHARC syndrome
-
ABHD12 p.Ala56Val
Uncertain significance
Multiple submitters
PHARC syndrome
-
ABHD12 p.Arg258Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Arg279His
Uncertain significance
Multiple submitters
PHARC syndrome
- ABHD12 p.Arg71His Uncertain significance Multiple submitters
-
ABHD12 p.Glu261Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Glu280Lys
Uncertain significance
Multiple submitters
hearing loss disorder
- ABHD12 p.Gly236Val Uncertain significance Multiple submitters
-
ABHD12 p.Ile112Phe
Uncertain significance
Multiple submitters
PHARC syndrome
-
ABHD12 p.Ile290Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Leu10Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Leu340Phe Uncertain significance Multiple submitters
- ABHD12 p.Lys91Thr Uncertain significance Multiple submitters
-
ABHD12 p.Phe203Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Pro382Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Pro382Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABHD12 p.Ser21Phe
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
ABHD12 p.Ser22Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABHD12 p.Thr214Met Uncertain significance Multiple submitters
- ABHD12 p.Thr43Met Uncertain significance Multiple submitters
- ABHD12 p.Val144Ile Uncertain significance Multiple submitters
- ABHD12 p.Val187Met Uncertain significance Multiple submitters
- ABHD12 p.Val256Met Uncertain significance Multiple submitters
- ABHD12 p.Ala16Val Uncertain significance Single submitter
- ABHD12 p.Ala224Gly Uncertain significance Single submitter
-
ABHD12 p.Ala224Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Ala252Val
Likely pathogenic
Single submitter
inherited retinal dystrophy
-
ABHD12 p.Ala268Ser
Conflicting
Single submitter
PHARC syndrome
- ABHD12 p.Ala26Thr Uncertain significance Single submitter
- ABHD12 p.Ala282Thr Uncertain significance Single submitter
- ABHD12 p.Ala28Gly Uncertain significance Single submitter
-
ABHD12 p.Ala351Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Ala53Val Uncertain significance Single submitter
- ABHD12 p.Arg257Gln Uncertain significance Single submitter
-
ABHD12 p.Arg257Trp
Conflicting
Single submitter
PHARC syndrome
- ABHD12 p.Arg2Lys Uncertain significance Single submitter
- ABHD12 p.Arg65Gln Uncertain significance Single submitter
- ABHD12 p.Asn123Tyr Uncertain significance Single submitter
- ABHD12 p.Asp135Glu Conflicting Single submitter
- ABHD12 p.Asp156Glu Uncertain significance Single submitter
- ABHD12 p.Asp184Val Uncertain significance Single submitter
- ABHD12 p.Asp298Glu Uncertain significance Single submitter
- ABHD12 p.Asp367Tyr Uncertain significance Single submitter
- ABHD12 p.Gln118His Uncertain significance Single submitter
- ABHD12 p.Gln157Pro Uncertain significance Single submitter
- ABHD12 p.Glu316Gly Uncertain significance Single submitter
- ABHD12 p.Glu331Lys Uncertain significance Single submitter
- ABHD12 p.Glu387Lys Uncertain significance Single submitter
- ABHD12 p.Gly183Ser Uncertain significance Single submitter
- ABHD12 p.Gly24Asp Uncertain significance Single submitter
-
ABHD12 p.Gly24Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Gly63Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Ile101Val Uncertain significance Single submitter
- ABHD12 p.Ile112Thr Uncertain significance Single submitter
- ABHD12 p.Ile138Thr Uncertain significance Single submitter
- ABHD12 p.Ile327Val Uncertain significance Single submitter
- ABHD12 p.Ile75Lys Uncertain significance Single submitter
- ABHD12 p.Leu259Phe Uncertain significance Single submitter
- ABHD12 p.Leu344Ile Uncertain significance Single submitter
-
ABHD12 p.Leu80Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Lys191Glu Uncertain significance Single submitter
- ABHD12 p.Lys377Asn Uncertain significance Single submitter
- ABHD12 p.Lys99Arg Uncertain significance Single submitter
- ABHD12 p.Phe111Leu Uncertain significance Single submitter
- ABHD12 p.Phe338Leu Uncertain significance Single submitter
- ABHD12 p.Pro169Ala Uncertain significance Single submitter
-
ABHD12 p.Pro169Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Pro324Ala Uncertain significance Single submitter
- ABHD12 p.Pro324Ser Uncertain significance Single submitter
- ABHD12 p.Pro334Leu Uncertain significance Single submitter
-
ABHD12 p.Pro379Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Pro94Ala Uncertain significance Single submitter
-
ABHD12 p.Ser194Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Ser20Leu Uncertain significance Single submitter
- ABHD12 p.Ser22Phe Uncertain significance Single submitter
-
ABHD12 p.Ser23Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Ser25Leu Uncertain significance Single submitter
-
ABHD12 p.Ser25Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Ser307Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Thr137Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Thr306Arg Uncertain significance Single submitter
- ABHD12 p.Tyr129His Uncertain significance Single submitter
-
ABHD12 p.Tyr198Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABHD12 p.Val136Met Uncertain significance Single submitter
-
ABHD12 p.Val140Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Val212Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABHD12 p.Val240Met
Conflicting
Single submitter
PHARC syndrome
-
ABHD12 p.Val318Met
Conflicting
Single submitter
Inborn genetic diseases
- ABHD12 p.Val8Ile Uncertain significance Single submitter
-
ABHD12 p.Pro324Leu
Likely pathogenic
No assertion criteria
PHARC syndrome
All ABHD12 variants
Pathogenic 29
- p.Arg352Ter Multiple submitters PHARC syndrome
- p.Arg355Ter Multiple submitters
- c.316+2T>A Single submitter
- p.Ala27fs Single submitter
- p.Ala47fs Single submitter PHARC syndrome
- p.Arg262Ter Single submitter
- p.Arg71fs Single submitter PHARC syndrome
- p.Gln339Ter Single submitter PHARC syndrome
- p.Gln360Ter Single submitter
- p.His365fs Single submitter
- p.Leu247fs Single submitter
- p.Leu271fs Single submitter
- p.Lys116fs Single submitter
- p.Pro87fs Single submitter
- p.Thr202Ile Single submitter
- p.Thr43fs Single submitter
- p.Trp141Ter Single submitter
- p.Trp159Ter Single submitter PHARC syndrome
- p.Trp230Ter Single submitter PHARC syndrome
- p.Trp243Ter Single submitter
- p.Trp69fs Single submitter PHARC syndrome
- p.Tyr374Ter Single submitter
- p.Tyr83Ter Single submitter PHARC syndrome
- p.Val201fs Single submitter PHARC syndrome
- p.Arg65Ter No assertion criteria inherited retinal dystrophy
- p.Asp113fs No assertion criteria
- p.His285Ter No assertion criteria PHARC syndrome
- p.His372Gln No assertion criteria PHARC syndrome
- p.Trp149Ter No assertion criteria cone dystrophy
Pathogenic/Likely pathogenic 2
- p.Arg292Ter Multiple submitters PHARC syndrome
- p.Val359fs Multiple submitters
Likely pathogenic 18
- c.1029+1G>T Multiple submitters
- p.Lys377Ter Multiple submitters
- c.191+2T>A Single submitter
- c.317-2A>G Single submitter
- c.748_749+1delinsCTC Single submitter
- c.749+1G>A Single submitter
- c.750-2A>G Single submitter
- c.787+1G>A Single submitter
- c.951-1G>A Single submitter
- p.Ala252Val Single submitter inherited retinal dystrophy ⚠
- p.Glu134Ter Single submitter inherited retinal dystrophy
- p.Ile375_Tyr376del Single submitter PHARC syndrome
- p.Leu114fs Single submitter
- p.Pro117fs Single submitter
- p.Ser346fs Single submitter inherited retinal dystrophy
- c.620-2A>G No assertion criteria PHARC syndrome
- c.788-1G>T No assertion criteria PHARC syndrome
- p.Pro324Leu No assertion criteria PHARC syndrome ⚠
Conflicting classifications of pathogenicity 27
- c.1030-7T>C Single submitter Syndromic retinitis pigmentosa
- c.191+15G>A Single submitter PHARC syndrome
- c.317-10T>A Single submitter
- c.543-13T>C Single submitter PHARC syndrome
- c.787+3G>A Single submitter
- c.788-10_788-7del Single submitter
- c.788-11T>G Single submitter
- c.951-9_951-6del Single submitter
- c.*22A>G Single submitter PHARC syndrome
- p.Ala268Ser Single submitter PHARC syndrome ⚠
- p.Ala348= Single submitter PHARC syndrome
- p.Arg257Trp Single submitter PHARC syndrome ⚠
- p.Arg35Cys Single submitter ABHD12-related disorder ⚠
- p.Arg371= Single submitter
- p.Arg383Gln Single submitter ⚠
- p.Asn151= Single submitter PHARC syndrome
- p.Asp135Glu Single submitter ⚠
- p.Gln118fs Single submitter
- p.Gln397Ter Single submitter PHARC syndrome
- p.His320= Single submitter PHARC syndrome
- p.Ile347= Single submitter PHARC syndrome
- p.Leu40Val Single submitter ⚠
- p.Pro286= Single submitter PHARC syndrome
- p.Thr180= Single submitter
- p.Val240Met Single submitter PHARC syndrome ⚠
- p.Val318Met Single submitter Inborn genetic diseases ⚠
- p.Arg186Pro No assertion criteria PHARC syndrome ⚠
Benign 47
- c.1029+247_1029+248insC Multiple submitters PHARC syndrome
- c.1029+62G>T Multiple submitters
- c.1158-129G>C Multiple submitters
- c.1158-177G>A Multiple submitters
- c.1158-204T>C Multiple submitters
- c.1158-213A>G Multiple submitters
- c.1158-224G>T Multiple submitters
- c.1158-314C>G Multiple submitters
- c.191+24G>C Multiple submitters PHARC syndrome
- c.191+24G>T Multiple submitters
- c.191+31_191+36del Multiple submitters PHARC syndrome
- c.192-241A>T Multiple submitters
- c.317-45T>C Multiple submitters
- c.422+29C>T Multiple submitters
- c.423-68C>T Multiple submitters PHARC syndrome
- c.574-181A>G Multiple submitters
- c.749+205C>T Multiple submitters
- c.867+97G>A Multiple submitters
- c.951-253A>C Multiple submitters
- c.951-79A>G Multiple submitters PHARC syndrome
- c.-48G>A Multiple submitters
- c.*148C>T Multiple submitters PHARC syndrome
- c.*297C>G Multiple submitters PHARC syndrome
- c.*541G>A Multiple submitters PHARC syndrome
- c.*83G>A Multiple submitters PHARC syndrome
- p.Ala349Thr Multiple submitters PHARC syndrome ⚠
- p.Arg279= Multiple submitters PHARC syndrome
- p.Asp356= Multiple submitters PHARC syndrome
- p.Leu403= Multiple submitters
- p.Ser392= Multiple submitters PHARC syndrome
- p.Ser401= Multiple submitters
- p.Val68Met Multiple submitters PHARC syndrome
- c.1029+196G>C Single submitter
- c.1029+284_1029+285del Single submitter
- c.1157+229A>C Single submitter
- c.1157+247A>G Single submitter
- c.1157+327A>G Single submitter
- c.317-223C>T Single submitter
- c.543-195C>T Single submitter
- c.574-16A>G Single submitter
- c.619+246del Single submitter
- c.620-301G>T Single submitter
- c.620-332A>G Single submitter
- c.787+19C>T Single submitter
- c.-40_-39insGGCGGAGGC Single submitter
- c.*321G>T Single submitter PHARC syndrome
- c.*44AACTAA[1] Single submitter
Benign/Likely benign 4
- c.191+14C>G Multiple submitters
- c.191+17A>G Multiple submitters
- c.191+19C>G Multiple submitters
- p.Gly63= Multiple submitters
Likely benign 203
- c.1029+211G>C Multiple submitters
- c.1157+102G>A Multiple submitters
- c.1158-98G>A Multiple submitters
- c.191+10C>T Multiple submitters
- c.191+26G>A Multiple submitters
- c.317-5T>C Multiple submitters
- c.422+69G>C Multiple submitters
- c.573+44T>C Multiple submitters
- c.574-52C>T Multiple submitters
- c.749+86C>T Multiple submitters
- c.750-12C>T Multiple submitters
- c.787+80G>T Multiple submitters
- c.868-17T>C Multiple submitters
- c.*13G>T Multiple submitters
- c.*454G>A Multiple submitters PHARC syndrome
- p.Ala54= Multiple submitters
- p.Ala61= Multiple submitters
- p.Asp135= Multiple submitters
- p.Glu395= Multiple submitters
- p.Gly183= Multiple submitters
- p.Lys232= Multiple submitters
- p.Pro45= Multiple submitters
- p.Thr125= Multiple submitters
- p.Thr43= Multiple submitters
- c.1029+10G>C Single submitter
- c.1029+183C>T Single submitter
- c.1029+188G>A Single submitter
- c.1029+18C>T Single submitter
- c.1029+19C>T Single submitter
- c.1029+85G>A Single submitter
- c.1029+8C>T Single submitter
- c.1030-10C>T Single submitter
- c.1030-14C>A Single submitter
- c.1030-175T>A Single submitter
- c.1030-19C>T Single submitter
- c.1030-266T>C Single submitter
- c.1157+13C>T Single submitter
- c.1157+214C>T Single submitter
- c.1158-17A>T Single submitter
- c.1158-5dup Single submitter
- c.1158-6G>T Single submitter
- c.1158-8del Single submitter
- c.1158-92del Single submitter
- c.1158-9G>A Single submitter
- c.191+127C>T Single submitter
- c.191+12C>G Single submitter
- c.191+13del Single submitter
- c.191+16G>T Single submitter
- c.191+176C>G Single submitter
- c.191+18G>A Single submitter
- c.191+20G>A Single submitter
- c.191+20G>C Single submitter
- c.191+20G>T Single submitter
- c.191+34_191+35dup Single submitter
- c.191+36_191+37insGG Single submitter
- c.191+7_191+19del Single submitter
- c.191+7C>A Single submitter
- c.191+8_191+17del Single submitter
- c.191+8T>C Single submitter
- c.192-4G>A Single submitter
- c.316+13T>C Single submitter
- c.316+16C>G Single submitter
- c.316+17C>T Single submitter
- c.316+296G>C Single submitter
- c.316+8G>A Single submitter
- c.316+8G>C Single submitter
- c.317-12dup Single submitter
- c.317-13_317-12del Single submitter
- c.317-329C>T Single submitter
- c.422+16C>T Single submitter
- c.423-10C>T Single submitter
- c.423-12T>G Single submitter
- c.423-18C>G Single submitter
- c.423-7T>C Single submitter
- c.542+13del Single submitter
- c.542+263G>A Single submitter
- c.542+319C>T Single submitter
- c.542+9G>T Single submitter
- c.543-10T>C Single submitter
- c.573+13A>G Single submitter
- c.573+39T>C Single submitter
- c.573+7G>A Single submitter
- c.573+8C>T Single submitter
- c.573+9A>G Single submitter
- c.619+17A>C Single submitter
- c.619+20A>G Single submitter
- c.619+7T>G Single submitter
- c.619+8T>G Single submitter
- c.620-11C>T Single submitter
- c.620-15G>A Single submitter
- c.620-16C>T Single submitter
- c.620-20C>T Single submitter
- c.620-4C>T Single submitter
- c.620-9C>T Single submitter
- c.749+11_749+12dup Single submitter
- c.749+8A>T Single submitter
- c.749+9_749+10insT Single submitter
- c.749+9C>A Single submitter
- c.750-15T>C Single submitter
- c.750-23_750-19del Single submitter
- c.750-259G>A Single submitter
- c.750-26A>G Single submitter
- c.750-285dup Single submitter
- c.750-313A>C Single submitter
- c.750-6T>G Single submitter
- c.787+119G>A Single submitter
- c.787+12G>C Single submitter
- c.787+18C>T Single submitter
- c.788-14G>A Single submitter
- c.788-23C>T Single submitter
- c.788-7del Single submitter
- c.788-8T>C Single submitter
- c.867+12T>C Single submitter
- c.867+253G>T Single submitter
- c.867+25T>A Single submitter
- c.867+8_867+9del Single submitter
- c.868-13A>G Single submitter
- c.868-15C>T Single submitter
- c.868-17T>G Single submitter
- c.868-4C>A Single submitter
- c.868-7T>C Single submitter
- c.868-86T>A Single submitter
- c.868-8G>A Single submitter
- c.950+11T>C Single submitter
- c.950+12G>A Single submitter
- c.950+14G>A Single submitter
- c.950+19G>A Single submitter
- c.951-13C>G Single submitter
- c.951-20G>A Single submitter
- c.951-271T>C Single submitter
- c.951-9C>T Single submitter
- c.951-9del Single submitter
- c.-10C>A Single submitter
- c.*8C>T Single submitter
- p.Ala233= Single submitter
- p.Ala268= Single submitter
- p.Ala349= Single submitter
- p.Ala47= Single submitter
- p.Ala9= Single submitter
- p.Arg186= Single submitter
- p.Arg2= Single submitter
- p.Arg258= Single submitter
- p.Asn177= Single submitter
- p.Asn277= Single submitter
- p.Asn39= Single submitter
- p.Asp184= Single submitter
- p.Asp223= Single submitter
- p.Asp31= Single submitter
- p.Asp33= Single submitter
- p.Asp55= Single submitter
- p.Gln157= Single submitter
- p.Glu188= Single submitter
- p.Glu261= Single submitter
- p.Gly19= Single submitter
- p.Gly207= Single submitter
- p.Gly44= Single submitter
- p.Gly57= Single submitter
- p.His226= Single submitter
- p.His329= Single submitter
- p.Leu130= Single submitter
- p.Leu164= Single submitter
- p.Leu193= Single submitter
- p.Leu225= Single submitter
- p.Leu247= Single submitter
- p.Leu326= Single submitter
- p.Leu368= Single submitter
- p.Leu381= Single submitter
- p.Leu62= Single submitter
- p.Leu89= Single submitter
- p.Leu92= Single submitter
- p.Lys3= Single submitter
- p.Phe111= Single submitter
- p.Phe357= Single submitter
- p.Phe361= Single submitter
- p.Phe364= Single submitter
- p.Phe77Leu Single submitter Inborn genetic diseases
- p.Pro239= Single submitter
- p.Pro304= Single submitter
- p.Pro334= Single submitter
- p.Pro334Thr Single submitter
- p.Pro363= Single submitter
- p.Ser21= Single submitter
- p.Ser211= Single submitter
- p.Ser216= Single submitter
- p.Ser23= Single submitter
- p.Ser378= Single submitter
- p.Thr137= Single submitter
- p.Thr214= Single submitter
- p.Thr249= Single submitter
- p.Thr264= Single submitter
- p.Tyr222= Single submitter
- p.Tyr293= Single submitter
- p.Tyr345= Single submitter
- p.Tyr370= Single submitter
- p.Tyr83= Single submitter
- p.Val106= Single submitter
- p.Val136= Single submitter
- p.Val362= Single submitter
- p.Val68= Single submitter
- c.1158-8T>C No assertion criteria ABHD12-related disorder
- c.620-7C>T No assertion criteria ABHD12-related disorder
- p.Thr143= No assertion criteria ABHD12-related disorder
- p.Val144= No assertion criteria ABHD12-related disorder
Uncertain significance 230
- c.867+2C>T Multiple submitters PHARC syndrome
- p.Ala152Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala178Thr Multiple submitters ⚠
- p.Ala18Gly Multiple submitters ⚠
- p.Ala29Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala330Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala348Thr Multiple submitters ⚠
- p.Ala348Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala56Val Multiple submitters PHARC syndrome ⚠
- p.Ala61Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ala9Val Multiple submitters PHARC syndrome ⚠
- p.Arg186Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg218Gln Multiple submitters PHARC syndrome ⚠
- p.Arg218Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg258Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg279His Multiple submitters PHARC syndrome ⚠
- p.Arg292Gln Multiple submitters PHARC syndrome ⚠
- p.Arg355Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg71Cys Multiple submitters ⚠
- p.Arg71His Multiple submitters ⚠
- p.Cys323Arg Multiple submitters PHARC syndrome ⚠
- p.Gln397Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu13Asp Multiple submitters ⚠
- p.Glu261Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu280Lys Multiple submitters hearing loss disorder ⚠
- p.Gly182Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly207Ser Multiple submitters ⚠
- p.Gly207Val Multiple submitters PHARC syndrome ⚠
- p.Gly219Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly236Val Multiple submitters ⚠
- p.Gly24Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly57Glu Multiple submitters ⚠
- p.His12Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile112Phe Multiple submitters PHARC syndrome ⚠
- p.Ile290Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile84Val Multiple submitters PHARC syndrome ⚠
- p.Ile90Val Multiple submitters ⚠
- p.Leu10Trp Multiple submitters Inborn genetic diseases ⚠
- p.Leu30Val Multiple submitters ⚠
- p.Leu340Phe Multiple submitters ⚠
- p.Leu36Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu76Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys91Thr Multiple submitters ⚠
- p.Met158Thr Multiple submitters ⚠
- p.Phe105= Multiple submitters PHARC syndrome
- p.Phe203Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe275Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe364Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro382Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro382Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro7Ser Multiple submitters ⚠
- p.Pro87Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Ser21Phe Multiple submitters inherited retinal dystrophy ⚠
- p.Ser22Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser23del Multiple submitters
- p.Ser392Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr214Met Multiple submitters ⚠
- p.Thr249Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr43Met Multiple submitters ⚠
- p.Val144Ile Multiple submitters ⚠
- p.Val187Met Multiple submitters ⚠
- p.Val200Met Multiple submitters Inborn genetic diseases ⚠
- p.Val251Met Multiple submitters Inborn genetic diseases ⚠
- p.Val256Met Multiple submitters ⚠
- p.Val68Ala Multiple submitters PHARC syndrome ⚠
- c.1030-11TC[2] Single submitter
- c.1157+3G>A Single submitter
- c.191+4A>G Single submitter
- c.191+6G>A Single submitter
- c.192-3C>T Single submitter
- c.422+5G>A Single submitter
- c.542+6G>A Single submitter PHARC syndrome
- c.574-3C>A Single submitter
- c.574-6T>G Single submitter
- c.620-16C>A Single submitter inherited retinal dystrophy
- c.620-3C>T Single submitter
- c.749+3_749+4del Single submitter
- c.750-3T>C Single submitter
- c.750-4C>G Single submitter inherited retinal dystrophy
- c.867+5G>A Single submitter
- c.951-3C>T Single submitter
- c.-3G>C Single submitter
- c.*149G>A Single submitter PHARC syndrome
- c.*177C>T Single submitter PHARC syndrome
- c.*331G>A Single submitter PHARC syndrome
- c.*331G>C Single submitter PHARC syndrome
- c.*353G>A Single submitter PHARC syndrome
- c.*377C>T Single submitter PHARC syndrome
- c.*45G>C Single submitter PHARC syndrome
- p.Ala16Val Single submitter ⚠
- p.Ala224Gly Single submitter ⚠
- p.Ala224Thr Single submitter Inborn genetic diseases ⚠
- p.Ala26Thr Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala28Gly Single submitter ⚠
- p.Ala351Val Single submitter Inborn genetic diseases ⚠
- p.Ala46Gly Single submitter PHARC syndrome ⚠
- p.Ala53Pro Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala54Ser Single submitter ⚠
- p.Ala61Pro Single submitter Inborn genetic diseases ⚠
- p.Ala85Asp Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Ala9Thr Single submitter Inborn genetic diseases ⚠
- p.Arg181Ser Single submitter Inborn genetic diseases ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg279Cys Single submitter
- p.Arg2Lys Single submitter ⚠
- p.Arg352Gln Single submitter ⚠
- p.Arg386= Single submitter
- p.Arg386Lys Single submitter ⚠
- p.Arg41Cys Single submitter ⚠
- p.Arg64Lys Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Arg71Leu Single submitter Inborn genetic diseases ⚠
- p.Asn123Tyr Single submitter ⚠
- p.Asn151His Single submitter ⚠
- p.Asn277Ser Single submitter ⚠
- p.Asn317= Single submitter
- p.Asp113Tyr Single submitter ⚠
- p.Asp113Val Single submitter ⚠
- p.Asp135Asn Single submitter ⚠
- p.Asp156Glu Single submitter ⚠
- p.Asp184Asn Single submitter ⚠
- p.Asp184Val Single submitter ⚠
- p.Asp229Glu Single submitter ⚠
- p.Asp237Gly Single submitter ⚠
- p.Asp298Glu Single submitter ⚠
- p.Asp367Tyr Single submitter ⚠
- p.Cys78Tyr Single submitter ⚠
- p.Gln118His Single submitter ⚠
- p.Gln157Pro Single submitter ⚠
- p.Glu263Gly Single submitter ⚠
- p.Glu316Gly Single submitter ⚠
- p.Glu331Lys Single submitter ⚠
- p.Glu380Ter Single submitter
- p.Glu387Lys Single submitter ⚠
- p.Glu395Lys Single submitter ⚠
- p.Gly139Arg Single submitter ⚠
- p.Gly176Glu Single submitter ⚠
- p.Gly179Ala Single submitter ⚠
- p.Gly183Asp Single submitter ⚠
- p.Gly183Ser Single submitter ⚠
- p.Gly236Ser Single submitter Inborn genetic diseases ⚠
- p.Gly24Arg Single submitter Inborn genetic diseases ⚠
- p.Gly24Asp Single submitter ⚠
- p.Gly24Val Single submitter Inborn genetic diseases ⚠
- p.Gly250= Single submitter
- p.Gly341Asp Single submitter ⚠
- p.Gly44Arg Single submitter ⚠
- p.Gly63Asp Single submitter Inborn genetic diseases ⚠
- p.Gly67Cys Single submitter ⚠
- p.His12Leu Single submitter Inborn genetic diseases ⚠
- p.His199Tyr Single submitter ⚠
- p.His245Tyr Single submitter ⚠
- p.His372Tyr Single submitter ⚠
- p.His398Tyr Single submitter ⚠
- p.Ile101Val Single submitter ⚠
- p.Ile112Thr Single submitter ⚠
- p.Ile138Thr Single submitter ⚠
- p.Ile310Thr Single submitter ⚠
- p.Ile327Val Single submitter ⚠
- p.Ile75Lys Single submitter ⚠
- p.Ile96Thr Single submitter Inborn genetic diseases ⚠
- p.Leu122Trp Single submitter Inborn genetic diseases ⚠
- p.Leu259Phe Single submitter ⚠
- p.Leu269Pro Single submitter ⚠
- p.Leu326Phe Single submitter ⚠
- p.Leu344Ile Single submitter ⚠
- p.Leu80Ser Single submitter Inborn genetic diseases ⚠
- p.Leu92Arg Single submitter ⚠
- p.Leu92Pro Single submitter ⚠
- p.Lys191= Single submitter
- p.Lys191Arg Single submitter ⚠
- p.Lys191Glu Single submitter ⚠
- p.Lys311Asn Single submitter ⚠
- p.Lys311Gln Single submitter Inborn genetic diseases ⚠
- p.Lys377Asn Single submitter ⚠
- p.Lys391fs Single submitter
- p.Lys99Arg Single submitter ⚠
- p.Met399Thr Single submitter
- p.Phe111Leu Single submitter ⚠
- p.Phe338Leu Single submitter ⚠
- p.Phe77Ser Single submitter ⚠
- p.Pro117Thr Single submitter ⚠
- p.Pro169Ala Single submitter ⚠
- p.Pro169Arg Single submitter Inborn genetic diseases ⚠
- p.Pro295Ala Single submitter Inborn genetic diseases ⚠
- p.Pro324Ala Single submitter ⚠
- p.Pro324Ser Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro379Ser Single submitter Inborn genetic diseases ⚠
- p.Pro45Arg Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Pro7Leu Single submitter Inborn genetic diseases ⚠
- p.Pro94Ala Single submitter ⚠
- p.Ser194Asn Single submitter Inborn genetic diseases ⚠
- p.Ser20Leu Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Ser23Cys Single submitter Inborn genetic diseases ⚠
- p.Ser25Leu Single submitter ⚠
- p.Ser25Trp Single submitter Inborn genetic diseases ⚠
- p.Ser307Arg Single submitter Inborn genetic diseases ⚠
- p.Ser308Asn Single submitter Inborn genetic diseases ⚠
- p.Ter399Arg Single submitter
- p.Ter399SerextTer? Single submitter
- p.Thr125Met Single submitter ⚠
- p.Thr137Ser Single submitter Inborn genetic diseases ⚠
- p.Thr253Arg Single submitter ⚠
- p.Thr264Met Single submitter Inborn genetic diseases ⚠
- p.Thr276Ala Single submitter ⚠
- p.Thr276Ile Single submitter ⚠
- p.Thr306Arg Single submitter ⚠
- p.Thr306Ile Single submitter ⚠
- p.Thr43Arg Single submitter ⚠
- p.Trp243Gly Single submitter ⚠
- p.Trp299Arg Single submitter ⚠
- p.Tyr129His Single submitter ⚠
- p.Tyr198Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr222Cys Single submitter ⚠
- p.Tyr291His Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val136Met Single submitter ⚠
- p.Val140Ala Single submitter Inborn genetic diseases ⚠
- p.Val212Met Single submitter Inborn genetic diseases ⚠
- p.Val336Met Single submitter ⚠
- p.Val359Ile Single submitter ⚠
- p.Val8Ile Single submitter ⚠
- p.Gly209Arg No assertion criteria inherited retinal dystrophy ⚠
- p.Phe312Cys No assertion criteria ⚠