PNPLA2 — 620 ClinVar variants
All ClinVar germline PNPLA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →
27 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 36 Conflicting · 11 Benign · 16 Benign/Likely benign · 233 Likely benign · 284 Uncertain significance
Full PNPLA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 238
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 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PNPLA2 p.Ala413Thr
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala414Thr
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala470Thr
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg364Trp
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg79Gln
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asn426Ser
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gly292Glu
Conflicting
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Gly483Arg
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.His109Arg
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu322Phe
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu443Val
Conflicting
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Pro269Leu
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro315Ser
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro455Gln
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro469Leu
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro477Leu
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ser407Phe
Conflicting
Single submitter
neutral lipid storage myopathy
Predictors lean, ClinVar uncertain 190
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 190
-
PNPLA2 p.Ala263Ser
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ala263Thr
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ala282Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Ala284Gly
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ala331Val
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ala381Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Ala472Gly
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ala495Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Ala495Val
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg120Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Arg120His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Arg163Cys
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg217Cys
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg221Cys
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg221His
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg251Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Arg268His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Arg303Gln
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg303Gly
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg380His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Arg496Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Asn142Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Asn451Lys
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Asp136Gly
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Asp286Asn
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Cys439Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Glu125Lys
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Glu190Lys
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Glu306Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Glu368Gln
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Glu417Asp
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Gly124Ser
Uncertain significance
Multiple submitters
PNPLA2-related disorder
-
PNPLA2 p.Gly446Asp
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Gly446Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Leu219Phe
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Leu262Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Leu447Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Lys382Arg
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Lys384Glu
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Met325Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Pro228Leu
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Pro272Arg
Uncertain significance
Multiple submitters
PNPLA2-related disorder
-
PNPLA2 p.Pro291Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Pro341Ser
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Pro394Gln
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Pro406Leu
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Pro409Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Pro409Gln
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Pro420Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Pro474Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Pro474Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Pro486Arg
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Pro486His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Pro493Leu
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ser476Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Thr316Met
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Tyr176Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Ala267Thr
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala284Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala302Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Ala311Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala413Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Ala418Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala453Asp
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala453Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Ala470Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala472Thr
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala485Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ala65Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg206Gln
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg217His
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg217Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg217Ser
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg235Gln
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg243Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Arg243Trp
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg251Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Arg257Gln
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg257Trp
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg303Pro
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg380Cys
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg380Gly
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg400Cys
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg401Cys
Uncertain significance
Single submitter
neutral lipid storage myopathy
- PNPLA2 p.Arg441Ser Uncertain significance Single submitter
-
PNPLA2 p.Arg460Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg462Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Arg496Gly
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg77Trp
Uncertain significance
Single submitter
neutral lipid storage myopathy
- PNPLA2 p.Asn180Asp Uncertain significance Single submitter
-
PNPLA2 p.Asn305Ser
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asn426Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Asn451Asp
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asp105Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Asp171Gly
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asp244Gly
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asp276Asn
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asp276His
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asp294Gly
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asp466Asn
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asp466His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Gln160His
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gln250Arg
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gln289Arg
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gln478Arg
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gln480Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PNPLA2 p.Glu108Lys Uncertain significance Single submitter
-
PNPLA2 p.Glu137Lys
Uncertain significance
Single submitter
neutral lipid storage myopathy
- PNPLA2 p.Glu280Lys Uncertain significance Single submitter
- PNPLA2 p.Glu293Gly Uncertain significance Single submitter
-
PNPLA2 p.Glu494Lys
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Glu494Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Gly124Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Gly146Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gly292Arg
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gly371Ala
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gly371Ser
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gly503Ala
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.His270Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.His295Asp
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.His479Asn
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ile129Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ile193Thr
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ile212Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Ile296Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ile93Met
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu114Pro
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu118Pro
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu175His
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu18Phe
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu222Pro
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu264Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Leu297Pro
Uncertain significance
Single submitter
neutral lipid storage myopathy
- PNPLA2 p.Leu330Pro Uncertain significance Single submitter
-
PNPLA2 p.Leu427Phe
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu459Pro
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu459Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu487Val
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Lys275Arg
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Lys384Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Met237Ile
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Met325Ile
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Met334Ile
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Phe97Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro156Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro157Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro229Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro258Ser
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro260Ala
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Pro260Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
Predictors split 31
The independent predictors disagree with each other — read with care.
-
PNPLA2 p.Arg113Cys
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg113His
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg77Gln
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Arg79Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Arg95Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Arg95His
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Asn252Lys
Benign/Likely benign
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Gly446Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.His107Arg
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Leu318Pro
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Pro337Leu
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ser130Tyr
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ser27Phe
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ser87Phe
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Val121Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPLA2 p.Val165Met
Uncertain significance
Multiple submitters
neutral lipid storage myopathy
-
PNPLA2 p.Ala76Thr
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg163His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPLA2 p.Arg235Pro
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg247Cys
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Arg351Ser
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Asp166Gly
Conflicting
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gln369His
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Glu354Gly
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Gly161Arg
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Leu385Pro
Uncertain significance
Single submitter
neutral lipid storage myopathy
- PNPLA2 p.Lys179Asn Uncertain significance Single submitter
-
PNPLA2 p.Phe227Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ser134Cys
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Ser404Leu
Uncertain significance
Single submitter
neutral lipid storage myopathy
-
PNPLA2 p.Val150Gly
Uncertain significance
Single submitter
neutral lipid storage myopathy
All PNPLA2 variants
Pathogenic 27
- c.757+1G>T Multiple submitters neutral lipid storage myopathy
- p.Arg221Pro Multiple submitters neutral lipid storage myopathy
- p.Leu205fs Multiple submitters Inborn genetic diseases
- p.Phe348fs Multiple submitters neutral lipid storage myopathy
- p.Pro195Leu Multiple submitters PNPLA2-related disorder
- p.Ala267fs Single submitter
- p.Ala302fs Single submitter neutral lipid storage myopathy
- p.Ala333_Met334insTer Single submitter neutral lipid storage myopathy
- p.Asp286fs Single submitter neutral lipid storage myopathy
- p.Gln369Ter Single submitter neutral lipid storage myopathy
- p.Gly292fs Single submitter neutral lipid storage myopathy
- p.Gly82Asp Single submitter neutral lipid storage myopathy
- p.His270fs Single submitter neutral lipid storage myopathy
- p.Leu232fs Single submitter neutral lipid storage myopathy
- p.Lys78delinsGlyTrpArgArgGlyPheAlaValLeuAlaGlyLeuValSerSerSerTer Single submitter neutral lipid storage myopathy
- p.Phe147fs Single submitter neutral lipid storage myopathy
- p.Trp365Ter Single submitter neutral lipid storage myopathy
- p.Trp8Ter Single submitter neutral lipid storage myopathy
- p.Tyr21Ter Single submitter neutral lipid storage myopathy
- p.Tyr44Ter Single submitter neutral lipid storage myopathy
- c.757+2T>C No assertion criteria neutral lipid storage myopathy
- p.Gln160fs No assertion criteria neutral lipid storage myopathy
- p.Gln250Pro No assertion criteria neutral lipid storage myopathy
- p.Gln283fs No assertion criteria neutral lipid storage myopathy
- p.Gln289Ter No assertion criteria neutral lipid storage myopathy
- p.Ile182fs No assertion criteria neutral lipid storage myopathy
- p.Pro156fs No assertion criteria neutral lipid storage myopathy
Pathogenic/Likely pathogenic 3
- c.187+1G>C Multiple submitters neutral lipid storage myopathy
- p.Arg351fs Multiple submitters neutral lipid storage myopathy
- p.Leu264fs Multiple submitters neutral lipid storage myopathy
Likely pathogenic 10
- c.421-1G>A Single submitter neutral lipid storage myopathy
- c.421-2A>T Single submitter neutral lipid storage myopathy
- c.758-1G>C Single submitter neutral lipid storage myopathy
- p.Arg303fs Single submitter neutral lipid storage myopathy
- p.Asp473fs Single submitter PNPLA2-related disorder
- p.Cys449fs Single submitter Abnormality of the musculature
- p.Glu31Ter Single submitter neutral lipid storage myopathy
- p.Glu75Ter Single submitter PNPLA2-related disorder
- p.Gly253fs Single submitter PNPLA2-related disorder
- p.Ser281fs Single submitter PNPLA2-related disorder
Conflicting classifications of pathogenicity 36
- c.487-15T>G Single submitter neutral lipid storage myopathy
- c.487-7G>A Single submitter neutral lipid storage myopathy
- c.487-7G>C Single submitter neutral lipid storage myopathy
- c.487-8C>T Single submitter neutral lipid storage myopathy
- c.920-13C>T Single submitter neutral lipid storage myopathy
- p.Ala413Thr Single submitter neutral lipid storage myopathy ⚠
- p.Ala414Thr Single submitter neutral lipid storage myopathy ⚠
- p.Ala470Thr Single submitter neutral lipid storage myopathy ⚠
- p.Ala482= Single submitter neutral lipid storage myopathy
- p.Arg364Trp Single submitter neutral lipid storage myopathy ⚠
- p.Arg79Gln Single submitter neutral lipid storage myopathy ⚠
- p.Asn133= Single submitter neutral lipid storage myopathy
- p.Asn426Ser Single submitter neutral lipid storage myopathy ⚠
- p.Asp123= Single submitter neutral lipid storage myopathy
- p.Asp166Gly Single submitter neutral lipid storage myopathy ⚠
- p.Asp197= Single submitter neutral lipid storage myopathy
- p.Gly292Glu Single submitter Inborn genetic diseases ⚠
- p.Gly483Arg Single submitter neutral lipid storage myopathy ⚠
- p.His109Arg Single submitter neutral lipid storage myopathy ⚠
- p.Leu249= Single submitter neutral lipid storage myopathy
- p.Leu322Phe Single submitter neutral lipid storage myopathy ⚠
- p.Leu443Val Single submitter Inborn genetic diseases ⚠
- p.Phe12= Single submitter neutral lipid storage myopathy
- p.Pro229= Single submitter neutral lipid storage myopathy
- p.Pro269Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro301= Single submitter neutral lipid storage myopathy
- p.Pro315Ser Single submitter neutral lipid storage myopathy ⚠
- p.Pro455Gln Single submitter neutral lipid storage myopathy ⚠
- p.Pro469Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro477Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro497= Single submitter neutral lipid storage myopathy
- p.Ser199= Single submitter neutral lipid storage myopathy
- p.Ser407Phe Single submitter neutral lipid storage myopathy ⚠
- p.Trp422Ter Single submitter neutral lipid storage myopathy
- p.Tyr164= Single submitter neutral lipid storage myopathy
- p.Tyr242= Single submitter neutral lipid storage myopathy
Benign 11
- c.1176-27C>G Multiple submitters
- c.*248A>G Multiple submitters neutral lipid storage myopathy
- p.Gly82= Multiple submitters neutral lipid storage myopathy
- p.Leu481Pro Multiple submitters neutral lipid storage myopathy
- c.187+222T>G Single submitter
- c.696+205TC[6] Single submitter
- c.696+216T>C Single submitter
- c.919+15del Single submitter neutral lipid storage myopathy
- c.919+15dup Single submitter neutral lipid storage myopathy
- c.*126TGCA[1] Single submitter
- c.*596C>G Single submitter neutral lipid storage myopathy
Benign/Likely benign 16
- c.1052+17dup Multiple submitters neutral lipid storage myopathy
- c.1053-21C>T Multiple submitters
- c.696+15G>A Multiple submitters neutral lipid storage myopathy
- c.696+16A>G Multiple submitters neutral lipid storage myopathy
- c.757+16C>T Multiple submitters neutral lipid storage myopathy
- c.919+4C>T Multiple submitters neutral lipid storage myopathy
- p.Arg383= Multiple submitters neutral lipid storage myopathy
- p.Asn252Lys Multiple submitters neutral lipid storage myopathy ⚠
- p.Leu226= Multiple submitters neutral lipid storage myopathy
- p.Leu389= Multiple submitters neutral lipid storage myopathy
- p.Pro265Ser Multiple submitters neutral lipid storage myopathy
- p.Pro291= Multiple submitters neutral lipid storage myopathy
- p.Pro477Arg Multiple submitters neutral lipid storage myopathy
- p.Pro486= Multiple submitters neutral lipid storage myopathy
- p.Ser288Trp Multiple submitters neutral lipid storage myopathy
- p.Ser489Ile Multiple submitters neutral lipid storage myopathy
Likely benign 233
- c.1052+20G>A Multiple submitters neutral lipid storage myopathy
- c.421-17C>T Multiple submitters neutral lipid storage myopathy
- c.487-18_487-15del Multiple submitters neutral lipid storage myopathy
- c.696+14C>T Multiple submitters neutral lipid storage myopathy
- c.758-11C>T Multiple submitters neutral lipid storage myopathy
- c.919+18G>A Multiple submitters neutral lipid storage myopathy
- c.919+18G>C Multiple submitters neutral lipid storage myopathy
- c.919+42G>A Multiple submitters
- c.*288C>T Multiple submitters neutral lipid storage myopathy
- p.Ala434= Multiple submitters neutral lipid storage myopathy
- p.Arg120= Multiple submitters neutral lipid storage myopathy
- p.Asp136= Multiple submitters neutral lipid storage myopathy
- p.Cys374= Multiple submitters neutral lipid storage myopathy
- p.Glu306= Multiple submitters neutral lipid storage myopathy
- p.Gly271= Multiple submitters neutral lipid storage myopathy
- p.Ile94= Multiple submitters neutral lipid storage myopathy
- p.Leu234= Multiple submitters neutral lipid storage myopathy
- p.Leu444= Multiple submitters neutral lipid storage myopathy
- p.Leu445= Multiple submitters neutral lipid storage myopathy
- p.Pro149= Multiple submitters neutral lipid storage myopathy
- p.Pro394= Multiple submitters neutral lipid storage myopathy
- p.Pro420= Multiple submitters neutral lipid storage myopathy
- p.Pro486_Leu487= Multiple submitters neutral lipid storage myopathy
- p.Pro493= Multiple submitters neutral lipid storage myopathy
- p.Val397= Multiple submitters neutral lipid storage myopathy
- c.1052+10C>T Single submitter neutral lipid storage myopathy
- c.1052+13G>A Single submitter neutral lipid storage myopathy
- c.1052+15G>C Single submitter neutral lipid storage myopathy
- c.1052+17del Single submitter
- c.1052+17G>A Single submitter neutral lipid storage myopathy
- c.1052+19dup Single submitter neutral lipid storage myopathy
- c.1053-10C>A Single submitter neutral lipid storage myopathy
- c.1053-10C>T Single submitter neutral lipid storage myopathy
- c.1053-12C>T Single submitter neutral lipid storage myopathy
- c.1053-13G>C Single submitter neutral lipid storage myopathy
- c.1053-14C>T Single submitter neutral lipid storage myopathy
- c.1053-16C>G Single submitter neutral lipid storage myopathy
- c.1053-16C>T Single submitter neutral lipid storage myopathy
- c.1053-17G>A Single submitter neutral lipid storage myopathy
- c.1053-18C>T Single submitter neutral lipid storage myopathy
- c.1053-20G>A Single submitter neutral lipid storage myopathy
- c.1053-29C>T Single submitter
- c.1053-5C>G Single submitter neutral lipid storage myopathy
- c.1175+10C>T Single submitter neutral lipid storage myopathy
- c.1175+18C>A Single submitter neutral lipid storage myopathy
- c.1175+18C>G Single submitter neutral lipid storage myopathy
- c.1175+7C>T Single submitter neutral lipid storage myopathy
- c.1175+8G>A Single submitter neutral lipid storage myopathy
- c.1176-11C>T Single submitter neutral lipid storage myopathy
- c.1176-18C>T Single submitter neutral lipid storage myopathy
- c.1176-4G>T Single submitter neutral lipid storage myopathy
- c.1176-6_1176-5del Single submitter neutral lipid storage myopathy
- c.1176-9G>A Single submitter neutral lipid storage myopathy
- c.187+18_187+30dup Single submitter neutral lipid storage myopathy
- c.187+20G>A Single submitter neutral lipid storage myopathy
- c.187+9G>A Single submitter neutral lipid storage myopathy
- c.188-19C>G Single submitter neutral lipid storage myopathy
- c.188-4C>T Single submitter neutral lipid storage myopathy
- c.420+14G>A Single submitter neutral lipid storage myopathy
- c.420+8C>G Single submitter neutral lipid storage myopathy
- c.421-12C>T Single submitter neutral lipid storage myopathy
- c.421-5T>C Single submitter neutral lipid storage myopathy
- c.421-6C>T Single submitter neutral lipid storage myopathy
- c.421-7C>G Single submitter neutral lipid storage myopathy
- c.421-9G>T Single submitter neutral lipid storage myopathy
- c.486+15C>T Single submitter neutral lipid storage myopathy
- c.486+9T>G Single submitter neutral lipid storage myopathy
- c.487-15T>C Single submitter neutral lipid storage myopathy
- c.487-17TG[2] Single submitter neutral lipid storage myopathy
- c.696+14C>G Single submitter neutral lipid storage myopathy
- c.696+15_696+16delinsAG Single submitter neutral lipid storage myopathy
- c.696+18G>A Single submitter neutral lipid storage myopathy
- c.696+18G>C Single submitter neutral lipid storage myopathy
- c.696+19A>G Single submitter neutral lipid storage myopathy
- c.697-10_697-8del Single submitter neutral lipid storage myopathy
- c.697-15C>A Single submitter neutral lipid storage myopathy
- c.697-15C>T Single submitter neutral lipid storage myopathy
- c.757+10C>T Single submitter
- c.757+11C>A Single submitter neutral lipid storage myopathy
- c.757+13G>A Single submitter neutral lipid storage myopathy
- c.757+14G>A Single submitter neutral lipid storage myopathy
- c.757+15del Single submitter neutral lipid storage myopathy
- c.757+15dup Single submitter neutral lipid storage myopathy
- c.757+15G>A Single submitter neutral lipid storage myopathy
- c.757+19G>A Single submitter neutral lipid storage myopathy
- c.757+20_757+33dup Single submitter neutral lipid storage myopathy
- c.757+7G>A Single submitter neutral lipid storage myopathy
- c.757+7G>C Single submitter
- c.757+9A>C Single submitter neutral lipid storage myopathy
- c.758-10C>G Single submitter neutral lipid storage myopathy
- c.758-10C>T Single submitter neutral lipid storage myopathy
- c.758-14C>G Single submitter neutral lipid storage myopathy
- c.758-14C>T Single submitter neutral lipid storage myopathy
- c.758-20C>T Single submitter neutral lipid storage myopathy
- c.758-4C>T Single submitter
- c.919+18_919+25del Single submitter neutral lipid storage myopathy
- c.919+18G>T Single submitter neutral lipid storage myopathy
- c.919+20del Single submitter neutral lipid storage myopathy
- c.919+21_919+24del Single submitter neutral lipid storage myopathy
- c.919+8C>T Single submitter neutral lipid storage myopathy
- c.919+9C>A Single submitter neutral lipid storage myopathy
- c.919+9C>G Single submitter neutral lipid storage myopathy
- c.920-17C>T Single submitter neutral lipid storage myopathy
- c.920-18C>A Single submitter neutral lipid storage myopathy
- c.920-20G>A Single submitter neutral lipid storage myopathy
- c.920-4G>T Single submitter neutral lipid storage myopathy
- c.920-5C>T Single submitter neutral lipid storage myopathy
- c.920-6C>T Single submitter neutral lipid storage myopathy
- c.920-7C>T Single submitter neutral lipid storage myopathy
- c.920-9C>T Single submitter neutral lipid storage myopathy
- c.-19C>A Single submitter neutral lipid storage myopathy
- c.*24C>T Single submitter
- c.*479C>T Single submitter neutral lipid storage myopathy
- p.Ala225= Single submitter neutral lipid storage myopathy
- p.Ala263= Single submitter neutral lipid storage myopathy
- p.Ala278= Single submitter
- p.Ala282= Single submitter neutral lipid storage myopathy
- p.Ala284= Single submitter neutral lipid storage myopathy
- p.Ala302= Single submitter neutral lipid storage myopathy
- p.Ala307= Single submitter neutral lipid storage myopathy
- p.Ala311= Single submitter neutral lipid storage myopathy
- p.Ala453= Single submitter neutral lipid storage myopathy
- p.Ala458= Single submitter neutral lipid storage myopathy
- p.Ala46= Single submitter neutral lipid storage myopathy
- p.Ala465= Single submitter neutral lipid storage myopathy
- p.Ala468= Single submitter neutral lipid storage myopathy
- p.Ala485= Single submitter neutral lipid storage myopathy
- p.Ala492= Single submitter neutral lipid storage myopathy
- p.Ala495Thr Single submitter neutral lipid storage myopathy
- p.Ala67= Single submitter neutral lipid storage myopathy
- p.Arg251= Single submitter neutral lipid storage myopathy
- p.Arg257= Single submitter neutral lipid storage myopathy
- p.Arg387= Single submitter
- p.Arg401= Single submitter neutral lipid storage myopathy
- p.Arg416= Single submitter neutral lipid storage myopathy
- p.Arg462= Single submitter
- p.Asn142= Single submitter neutral lipid storage myopathy
- p.Asn172= Single submitter neutral lipid storage myopathy
- p.Asn215= Single submitter neutral lipid storage myopathy
- p.Asn426= Single submitter neutral lipid storage myopathy
- p.Asn89= Single submitter neutral lipid storage myopathy
- p.Asp274Glu Single submitter Inborn genetic diseases
- p.Asp276= Single submitter neutral lipid storage myopathy
- p.Asp317= Single submitter neutral lipid storage myopathy
- p.Asp358= Single submitter neutral lipid storage myopathy
- p.Asp431= Single submitter neutral lipid storage myopathy
- p.Asp473= Single submitter neutral lipid storage myopathy
- p.Cys312= Single submitter neutral lipid storage myopathy
- p.Gln403= Single submitter neutral lipid storage myopathy
- p.Gln440= Single submitter neutral lipid storage myopathy
- p.Gln478= Single submitter neutral lipid storage myopathy
- p.Glu230= Single submitter neutral lipid storage myopathy
- p.Glu398= Single submitter neutral lipid storage myopathy
- p.Glu417= Single submitter neutral lipid storage myopathy
- p.Gly161= Single submitter neutral lipid storage myopathy
- p.Gly245= Single submitter neutral lipid storage myopathy
- p.Gly446= Single submitter neutral lipid storage myopathy
- p.His131= Single submitter neutral lipid storage myopathy
- p.His203= Single submitter neutral lipid storage myopathy
- p.His299= Single submitter neutral lipid storage myopathy
- p.His32= Single submitter neutral lipid storage myopathy
- p.His388= Single submitter neutral lipid storage myopathy
- p.His479= Single submitter neutral lipid storage myopathy
- p.Ile128= Single submitter neutral lipid storage myopathy
- p.Leu138= Single submitter neutral lipid storage myopathy
- p.Leu154= Single submitter neutral lipid storage myopathy
- p.Leu246= Single submitter neutral lipid storage myopathy
- p.Leu255= Single submitter neutral lipid storage myopathy
- p.Leu261= Single submitter neutral lipid storage myopathy
- p.Leu264= Single submitter neutral lipid storage myopathy
- p.Leu290= Single submitter neutral lipid storage myopathy
- p.Leu297= Single submitter neutral lipid storage myopathy
- p.Leu300= Single submitter neutral lipid storage myopathy
- p.Leu304= Single submitter neutral lipid storage myopathy
- p.Leu309= Single submitter neutral lipid storage myopathy
- p.Leu322= Single submitter
- p.Leu346= Single submitter neutral lipid storage myopathy
- p.Leu352= Single submitter neutral lipid storage myopathy
- p.Leu356= Single submitter neutral lipid storage myopathy
- p.Leu393= Single submitter neutral lipid storage myopathy
- p.Leu419= Single submitter neutral lipid storage myopathy
- p.Leu427= Single submitter
- p.Leu429= Single submitter neutral lipid storage myopathy
- p.Leu443= Single submitter
- p.Leu447= Single submitter neutral lipid storage myopathy
- p.Leu459= Single submitter neutral lipid storage myopathy
- p.Leu481= Single submitter neutral lipid storage myopathy
- p.Leu487= Single submitter
- p.Leu488= Single submitter neutral lipid storage myopathy
- p.Leu81= Single submitter neutral lipid storage myopathy
- p.Leu84= Single submitter neutral lipid storage myopathy
- p.Lys367= Single submitter neutral lipid storage myopathy
- p.Lys68= Single submitter neutral lipid storage myopathy
- p.Phe132= Single submitter neutral lipid storage myopathy
- p.Phe147= Single submitter neutral lipid storage myopathy
- p.Phe97= Single submitter neutral lipid storage myopathy
- p.Pro157= Single submitter
- p.Pro195= Single submitter neutral lipid storage myopathy
- p.Pro228= Single submitter neutral lipid storage myopathy
- p.Pro231= Single submitter neutral lipid storage myopathy
- p.Pro265= Single submitter neutral lipid storage myopathy
- p.Pro406= Single submitter neutral lipid storage myopathy
- p.Pro409= Single submitter neutral lipid storage myopathy
- p.Pro455= Single submitter neutral lipid storage myopathy
- p.Pro456= Single submitter neutral lipid storage myopathy
- p.Pro464= Single submitter neutral lipid storage myopathy
- p.Pro467= Single submitter neutral lipid storage myopathy
- p.Pro471= Single submitter neutral lipid storage myopathy
- p.Pro86= Single submitter neutral lipid storage myopathy
- p.Ser11= Single submitter neutral lipid storage myopathy
- p.Ser145= Single submitter neutral lipid storage myopathy
- p.Ser223= Single submitter
- p.Ser281= Single submitter neutral lipid storage myopathy
- p.Ser344= Single submitter neutral lipid storage myopathy
- p.Ser347= Single submitter neutral lipid storage myopathy
- p.Ser372= Single submitter neutral lipid storage myopathy
- p.Ser404= Single submitter neutral lipid storage myopathy
- p.Ser428= Single submitter
- p.Ser476= Single submitter neutral lipid storage myopathy
- p.Thr181= Single submitter neutral lipid storage myopathy
- p.Thr321= Single submitter neutral lipid storage myopathy
- p.Thr349= Single submitter neutral lipid storage myopathy
- p.Thr450= Single submitter neutral lipid storage myopathy
- p.Tyr151= Single submitter neutral lipid storage myopathy
- p.Tyr176= Single submitter neutral lipid storage myopathy
- p.Tyr376= Single submitter neutral lipid storage myopathy
- p.Val121= Single submitter neutral lipid storage myopathy
- p.Val127= Single submitter neutral lipid storage myopathy
- p.Val184= Single submitter neutral lipid storage myopathy
- p.Val20= Single submitter neutral lipid storage myopathy
- p.Val313= Single submitter neutral lipid storage myopathy
- p.Val328= Single submitter neutral lipid storage myopathy
- p.Val57= Single submitter neutral lipid storage myopathy
Uncertain significance 284
- c.1175+3G>A Multiple submitters neutral lipid storage myopathy
- c.*383C>T Multiple submitters neutral lipid storage myopathy
- p.Ala263Ser Multiple submitters neutral lipid storage myopathy ⚠
- p.Ala263Thr Multiple submitters neutral lipid storage myopathy ⚠
- p.Ala282Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala284Gly Multiple submitters neutral lipid storage myopathy ⚠
- p.Ala331Val Multiple submitters neutral lipid storage myopathy ⚠
- p.Ala381Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala472Gly Multiple submitters neutral lipid storage myopathy ⚠
- p.Ala495Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala495Val Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg113Cys Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg113His Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg120Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg120His Multiple submitters Inborn genetic diseases ⚠
- p.Arg163Cys Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg217Cys Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg221Cys Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg221His Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg251Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg268His Multiple submitters Inborn genetic diseases ⚠
- p.Arg303Gln Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg303Gly Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg380His Multiple submitters Inborn genetic diseases ⚠
- p.Arg496_Ala501del Multiple submitters neutral lipid storage myopathy
- p.Arg496Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg77Gln Multiple submitters neutral lipid storage myopathy ⚠
- p.Arg79Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg95Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg95His Multiple submitters neutral lipid storage myopathy ⚠
- p.Asn142Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn451fs Multiple submitters neutral lipid storage myopathy
- p.Asn451Lys Multiple submitters neutral lipid storage myopathy ⚠
- p.Asp136Gly Multiple submitters neutral lipid storage myopathy ⚠
- p.Asp286Asn Multiple submitters neutral lipid storage myopathy ⚠
- p.Cys439Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys449Ser Multiple submitters neutral lipid storage myopathy
- p.Glu125Lys Multiple submitters neutral lipid storage myopathy ⚠
- p.Glu190Lys Multiple submitters neutral lipid storage myopathy ⚠
- p.Glu306Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu368Gln Multiple submitters neutral lipid storage myopathy ⚠
- p.Glu417Asp Multiple submitters neutral lipid storage myopathy ⚠
- p.Gly124Ser Multiple submitters PNPLA2-related disorder ⚠
- p.Gly446Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly446Asp Multiple submitters neutral lipid storage myopathy ⚠
- p.Gly446Ser Multiple submitters Inborn genetic diseases ⚠
- p.His107Arg Multiple submitters neutral lipid storage myopathy ⚠
- p.Leu219Phe Multiple submitters neutral lipid storage myopathy ⚠
- p.Leu262Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu318Pro Multiple submitters neutral lipid storage myopathy ⚠
- p.Leu443Arg Multiple submitters neutral lipid storage myopathy
- p.Leu447Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys179del Multiple submitters neutral lipid storage myopathy
- p.Lys382Arg Multiple submitters neutral lipid storage myopathy ⚠
- p.Lys384Glu Multiple submitters neutral lipid storage myopathy ⚠
- p.Met325Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro228Leu Multiple submitters neutral lipid storage myopathy ⚠
- p.Pro272Arg Multiple submitters PNPLA2-related disorder ⚠
- p.Pro291Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro337Leu Multiple submitters neutral lipid storage myopathy ⚠
- p.Pro341Ser Multiple submitters neutral lipid storage myopathy ⚠
- p.Pro394Gln Multiple submitters neutral lipid storage myopathy ⚠
- p.Pro406Leu Multiple submitters neutral lipid storage myopathy ⚠
- p.Pro409Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro409Gln Multiple submitters neutral lipid storage myopathy ⚠
- p.Pro420Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro474Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro474Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro486Arg Multiple submitters neutral lipid storage myopathy ⚠
- p.Pro486His Multiple submitters Inborn genetic diseases ⚠
- p.Pro493Leu Multiple submitters neutral lipid storage myopathy ⚠
- p.Ser130Tyr Multiple submitters neutral lipid storage myopathy ⚠
- p.Ser27Phe Multiple submitters neutral lipid storage myopathy ⚠
- p.Ser476Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser87Phe Multiple submitters neutral lipid storage myopathy ⚠
- p.Thr210Ala Multiple submitters Inborn genetic diseases
- p.Thr316Met Multiple submitters neutral lipid storage myopathy ⚠
- p.Tyr176Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val121Met Multiple submitters Inborn genetic diseases ⚠
- p.Val150Met Multiple submitters Inborn genetic diseases
- p.Val165Met Multiple submitters neutral lipid storage myopathy ⚠
- c.1052+12G>T Single submitter neutral lipid storage myopathy
- c.1052+5G>A Single submitter
- c.1176-3C>G Single submitter neutral lipid storage myopathy
- c.420+6G>T Single submitter neutral lipid storage myopathy
- c.697-3C>T Single submitter neutral lipid storage myopathy
- c.754_757+14dup Single submitter neutral lipid storage myopathy
- c.757+11C>G Single submitter neutral lipid storage myopathy
- c.757+5G>A Single submitter neutral lipid storage myopathy
- c.757+6C>T Single submitter neutral lipid storage myopathy
- c.919+3G>A Single submitter neutral lipid storage myopathy
- c.919+4_919+18del Single submitter neutral lipid storage myopathy
- c.919+5G>C Single submitter neutral lipid storage myopathy
- c.-120C>T Single submitter neutral lipid storage myopathy
- c.-159A>G Single submitter neutral lipid storage myopathy
- c.-165A>G Single submitter neutral lipid storage myopathy
- c.*134C>G Single submitter neutral lipid storage myopathy
- c.*160C>A Single submitter neutral lipid storage myopathy
- c.*17A>G Single submitter neutral lipid storage myopathy
- c.*232C>T Single submitter neutral lipid storage myopathy
- c.*302G>A Single submitter neutral lipid storage myopathy
- c.*384C>T Single submitter neutral lipid storage myopathy
- c.*385G>T Single submitter neutral lipid storage myopathy
- c.*567G>C Single submitter neutral lipid storage myopathy
- c.*568A>C Single submitter neutral lipid storage myopathy
- c.*595C>A Single submitter neutral lipid storage myopathy
- c.*603A>G Single submitter neutral lipid storage myopathy
- c.*637C>T Single submitter neutral lipid storage myopathy
- c.*88G>T Single submitter neutral lipid storage myopathy
- p.Ala104Ile Single submitter neutral lipid storage myopathy
- p.Ala267Thr Single submitter neutral lipid storage myopathy ⚠
- p.Ala284Val Single submitter neutral lipid storage myopathy ⚠
- p.Ala302Thr Single submitter Inborn genetic diseases ⚠
- p.Ala311Val Single submitter neutral lipid storage myopathy ⚠
- p.Ala413Val Single submitter Inborn genetic diseases ⚠
- p.Ala418Val Single submitter neutral lipid storage myopathy ⚠
- p.Ala453Asp Single submitter neutral lipid storage myopathy ⚠
- p.Ala453Val Single submitter Inborn genetic diseases ⚠
- p.Ala470Val Single submitter neutral lipid storage myopathy ⚠
- p.Ala472Thr Single submitter neutral lipid storage myopathy ⚠
- p.Ala475_Ser476insProAlaProAlaAspProAla Single submitter neutral lipid storage myopathy
- p.Ala485Val Single submitter neutral lipid storage myopathy ⚠
- p.Ala65Val Single submitter neutral lipid storage myopathy ⚠
- p.Ala76Thr Single submitter neutral lipid storage myopathy ⚠
- p.Arg163His Single submitter Inborn genetic diseases ⚠
- p.Arg206Gln Single submitter neutral lipid storage myopathy ⚠
- p.Arg206Trp Single submitter neutral lipid storage myopathy
- p.Arg217His Single submitter neutral lipid storage myopathy ⚠
- p.Arg217Leu Single submitter neutral lipid storage myopathy ⚠
- p.Arg217Ser Single submitter neutral lipid storage myopathy ⚠
- p.Arg235Gln Single submitter neutral lipid storage myopathy ⚠
- p.Arg235Pro Single submitter neutral lipid storage myopathy ⚠
- p.Arg243Gln Single submitter Inborn genetic diseases ⚠
- p.Arg243Trp Single submitter neutral lipid storage myopathy ⚠
- p.Arg247Cys Single submitter neutral lipid storage myopathy ⚠
- p.Arg247Ser Single submitter neutral lipid storage myopathy
- p.Arg251Pro Single submitter Inborn genetic diseases ⚠
- p.Arg257Gln Single submitter neutral lipid storage myopathy ⚠
- p.Arg257Trp Single submitter neutral lipid storage myopathy ⚠
- p.Arg303Pro Single submitter neutral lipid storage myopathy ⚠
- p.Arg351Ser Single submitter neutral lipid storage myopathy ⚠
- p.Arg380Cys Single submitter neutral lipid storage myopathy ⚠
- p.Arg380Gly Single submitter neutral lipid storage myopathy ⚠
- p.Arg400Cys Single submitter neutral lipid storage myopathy ⚠
- p.Arg401Cys Single submitter neutral lipid storage myopathy ⚠
- p.Arg441Ser Single submitter ⚠
- p.Arg460Leu Single submitter neutral lipid storage myopathy ⚠
- p.Arg462Ser Single submitter Inborn genetic diseases ⚠
- p.Arg496Gly Single submitter neutral lipid storage myopathy ⚠
- p.Arg77Trp Single submitter neutral lipid storage myopathy ⚠
- p.Asn180Asp Single submitter ⚠
- p.Asn305Ser Single submitter neutral lipid storage myopathy ⚠
- p.Asn426Asp Single submitter Inborn genetic diseases ⚠
- p.Asn451Asp Single submitter neutral lipid storage myopathy ⚠
- p.Asp105Asn Single submitter Inborn genetic diseases ⚠
- p.Asp171Gly Single submitter neutral lipid storage myopathy ⚠
- p.Asp244Gly Single submitter neutral lipid storage myopathy ⚠
- p.Asp276Asn Single submitter neutral lipid storage myopathy ⚠
- p.Asp276His Single submitter neutral lipid storage myopathy ⚠
- p.Asp294Gly Single submitter neutral lipid storage myopathy ⚠
- p.Asp358Asn Single submitter neutral lipid storage myopathy
- p.Asp466Asn Single submitter neutral lipid storage myopathy ⚠
- p.Asp466His Single submitter Inborn genetic diseases ⚠
- p.Asp473_Ala492del Single submitter neutral lipid storage myopathy
- p.Cys15Ser Single submitter neutral lipid storage myopathy
- p.Cys374fs Single submitter neutral lipid storage myopathy
- p.Gln160His Single submitter neutral lipid storage myopathy ⚠
- p.Gln250Arg Single submitter neutral lipid storage myopathy ⚠
- p.Gln289Arg Single submitter neutral lipid storage myopathy ⚠
- p.Gln369His Single submitter neutral lipid storage myopathy ⚠
- p.Gln478Arg Single submitter neutral lipid storage myopathy ⚠
- p.Gln478fs Single submitter
- p.Gln480Arg Single submitter Inborn genetic diseases ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu137Lys Single submitter neutral lipid storage myopathy ⚠
- p.Glu280Lys Single submitter ⚠
- p.Glu293Gly Single submitter ⚠
- p.Glu354Gly Single submitter neutral lipid storage myopathy ⚠
- p.Glu494Lys Single submitter neutral lipid storage myopathy ⚠
- p.Glu494Val Single submitter Inborn genetic diseases ⚠
- p.Gly124= Single submitter neutral lipid storage myopathy
- p.Gly124Ala Single submitter Inborn genetic diseases ⚠
- p.Gly146Val Single submitter neutral lipid storage myopathy ⚠
- p.Gly161Arg Single submitter neutral lipid storage myopathy ⚠
- p.Gly189= Single submitter
- p.Gly292Arg Single submitter neutral lipid storage myopathy ⚠
- p.Gly371Ala Single submitter neutral lipid storage myopathy ⚠
- p.Gly371Ser Single submitter neutral lipid storage myopathy ⚠
- p.Gly483fs Single submitter neutral lipid storage myopathy
- p.Gly503Ala Single submitter neutral lipid storage myopathy ⚠
- p.His270Asn Single submitter Inborn genetic diseases ⚠
- p.His295Asp Single submitter neutral lipid storage myopathy ⚠
- p.His479Asn Single submitter neutral lipid storage myopathy ⚠
- p.Ile129Val Single submitter neutral lipid storage myopathy ⚠
- p.Ile148= Single submitter neutral lipid storage myopathy
- p.Ile193Thr Single submitter neutral lipid storage myopathy ⚠
- p.Ile212Thr Single submitter Inborn genetic diseases ⚠
- p.Ile296Val Single submitter neutral lipid storage myopathy ⚠
- p.Ile93Met Single submitter neutral lipid storage myopathy ⚠
- p.Leu114Pro Single submitter neutral lipid storage myopathy ⚠
- p.Leu118Pro Single submitter neutral lipid storage myopathy ⚠
- p.Leu175His Single submitter neutral lipid storage myopathy ⚠
- p.Leu18Phe Single submitter neutral lipid storage myopathy ⚠
- p.Leu222Pro Single submitter neutral lipid storage myopathy ⚠
- p.Leu264Ser Single submitter Inborn genetic diseases ⚠
- p.Leu297Pro Single submitter neutral lipid storage myopathy ⚠
- p.Leu309fs Single submitter neutral lipid storage myopathy
- p.Leu330Pro Single submitter ⚠
- p.Leu385Pro Single submitter neutral lipid storage myopathy ⚠
- p.Leu427Phe Single submitter neutral lipid storage myopathy ⚠
- p.Leu459dup Single submitter neutral lipid storage myopathy
- p.Leu459Pro Single submitter neutral lipid storage myopathy ⚠
- p.Leu459Val Single submitter neutral lipid storage myopathy ⚠
- p.Leu487fs Single submitter neutral lipid storage myopathy
- p.Leu487Val Single submitter neutral lipid storage myopathy ⚠
- p.Lys179Asn Single submitter ⚠
- p.Lys239= Single submitter neutral lipid storage myopathy
- p.Lys275Arg Single submitter neutral lipid storage myopathy ⚠
- p.Lys384Gln Single submitter Inborn genetic diseases ⚠
- p.Met237Ile Single submitter neutral lipid storage myopathy ⚠
- p.Met325Ile Single submitter neutral lipid storage myopathy ⚠
- p.Met334Ile Single submitter neutral lipid storage myopathy ⚠
- p.Phe227Leu Single submitter neutral lipid storage myopathy ⚠
- p.Phe348del Single submitter neutral lipid storage myopathy
- p.Phe97Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro156Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro157Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro229Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro258Ser Single submitter neutral lipid storage myopathy ⚠
- p.Pro260Ala Single submitter neutral lipid storage myopathy ⚠
- p.Pro260Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro301_Arg303del Single submitter neutral lipid storage myopathy
- p.Pro315Arg Single submitter neutral lipid storage myopathy ⚠
- p.Pro327Leu Single submitter neutral lipid storage myopathy
- p.Pro337Ser Single submitter Inborn genetic diseases ⚠
- p.Pro390Ser Single submitter neutral lipid storage myopathy ⚠
- p.Pro394Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro409Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro455Leu Single submitter neutral lipid storage myopathy ⚠
- p.Pro455Ser Single submitter neutral lipid storage myopathy ⚠
- p.Pro467Ser Single submitter neutral lipid storage myopathy ⚠
- p.Pro471Ser Single submitter neutral lipid storage myopathy ⚠
- p.Pro477Ala Single submitter neutral lipid storage myopathy ⚠
- p.Pro484fs Single submitter neutral lipid storage myopathy
- p.Pro484Thr Single submitter neutral lipid storage myopathy ⚠
- p.Pro486Ser Single submitter neutral lipid storage myopathy ⚠
- p.Pro493Ser Single submitter neutral lipid storage myopathy ⚠
- p.Pro83Ala Single submitter neutral lipid storage myopathy ⚠
- p.Pro86Ser Single submitter neutral lipid storage myopathy ⚠
- p.Ser134Cys Single submitter neutral lipid storage myopathy ⚠
- p.Ser134Pro Single submitter Inborn genetic diseases ⚠
- p.Ser185Pro Single submitter neutral lipid storage myopathy ⚠
- p.Ser188= Single submitter neutral lipid storage myopathy
- p.Ser188Leu Single submitter Inborn genetic diseases ⚠
- p.Ser323Cys Single submitter neutral lipid storage myopathy ⚠
- p.Ser404Ala Single submitter neutral lipid storage myopathy ⚠
- p.Ser404Leu Single submitter neutral lipid storage myopathy ⚠
- p.Ser411Phe Single submitter neutral lipid storage myopathy ⚠
- p.Ser428Leu Single submitter neutral lipid storage myopathy ⚠
- p.Ter505Arg Single submitter
- p.Thr181Ile Single submitter neutral lipid storage myopathy ⚠
- p.Thr321Ile Single submitter neutral lipid storage myopathy ⚠
- p.Thr450Ile Single submitter neutral lipid storage myopathy ⚠
- p.Thr450Ser Single submitter Inborn genetic diseases ⚠
- p.Thr490Ala Single submitter neutral lipid storage myopathy ⚠
- p.Trp422Cys Single submitter neutral lipid storage myopathy
- p.Tyr287Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr415Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr415Gln Single submitter neutral lipid storage myopathy
- p.Val150Gly Single submitter neutral lipid storage myopathy ⚠
- p.Val150Leu Single submitter neutral lipid storage myopathy ⚠
- p.Val233Met Single submitter Inborn genetic diseases ⚠
- p.Val313Met Single submitter neutral lipid storage myopathy ⚠
- p.Val328Leu Single submitter neutral lipid storage myopathy ⚠
- p.Val378Leu Single submitter neutral lipid storage myopathy ⚠
- p.Val402Ile Single submitter neutral lipid storage myopathy ⚠
- p.Val402Leu Single submitter neutral lipid storage myopathy ⚠
- p.Val408Leu Single submitter neutral lipid storage myopathy ⚠
- p.Val452Met Single submitter neutral lipid storage myopathy ⚠
- p.Val498fs Single submitter
- p.Val498Met Single submitter Inborn genetic diseases ⚠
- p.Val60Ile Single submitter neutral lipid storage myopathy ⚠
- c.919+8C>G No assertion criteria myopathy
- p.Asn133_Ser134del No assertion criteria neutral lipid storage myopathy