Sugi Variant

Sugi Variant/CAPN3

CAPN3 — 2001 ClinVar variants

All ClinVar germline CAPN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 655 flagged for review →

230 Pathogenic · 71 Pathogenic/Likely pathogenic · 178 Likely pathogenic · 139 Conflicting · 73 Benign · 18 Benign/Likely benign · 617 Likely benign · 675 Uncertain significance

Full CAPN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 655

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 vs ClinVar 13

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 51

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 387

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 387

Predictors split 204

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 204

All CAPN3 variants

Pathogenic 230

  • c.1115+5G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1194-2A>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1194-2del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1194-9A>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1746-20C>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1993-1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.499-1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ala702Val Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ala798Glu Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg110fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg110Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg448Cys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg448His Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg489Gln Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg489Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg490Gln Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg490Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg49Cys Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg49His Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg541Gln Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg541Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg572Gln Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg572Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg748Gln Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg748Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg769Gln Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg788fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asn760fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp295fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp707Gly Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp764fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln660_Ile661insTer Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln728Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu323Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu343Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu435Lys Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Glu467del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu508= Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu582fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu716Asp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly234Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly234Glu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly441fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly445Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu87fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys254del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys613fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Phe200_Leu204del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Phe239fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro245_Ser246insTer Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser215_Gly221del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser479Gly Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Thr184fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Thr417Met Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr537Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr75fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr763Cys Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • c.1193+6T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.1355-1G>C Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1524+1G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1536+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+1G>T Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2050+1del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-1G>T Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2185-2A>G Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2263+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+1G>T Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.801+1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.802-9G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.946-1_948del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.946-1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.946-2A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala34fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Arg147Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Arg289fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp772fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Asp780His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln300Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln362Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln388Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln521Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Glu107Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu285Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu647Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Glu667fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu79fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly127Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gly348fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gly36fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly445Ter Multiple submitters Qualitative or quantitative defects of calpain
  • p.Gly503fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly567Trp Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.His690fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Ile112fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile135fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile162fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Leu526fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys491fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys598fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Lys632Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met248Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Phe97Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro22fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Thr453fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr599fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Thr679fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp360Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr170Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr322Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr507fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr554Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr763Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Val354Gly Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Val433fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1029+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1355-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+2T>C Single submitter
  • c.1745+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+2T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1800+1G>A Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1800+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+2T>A Single submitter
  • c.1992+2T>G Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2050+1dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-2A>G Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2264-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.309+1G>A Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.380-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.380-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.380-8_395del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.498+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.632+1G>A Single submitter
  • c.801+2T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala116Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala203Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala662fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala754fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg325fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg698fs Single submitter
  • p.Arg748Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn186fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn434fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Asp243fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp382fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp403fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp645fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp707fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp753fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Cys328Ter Single submitter
  • p.Gln142Ter Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gln518Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln565Ter Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gln651Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln653Ter Single submitter
  • p.Gln660Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln96Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu107fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu311Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu620fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Glu622fs Single submitter
  • p.Glu667Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu84fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gly222Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly233Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly269fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly663fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His143fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His65fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His733_Tyr734insTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile149fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile241fs Single submitter
  • p.Ile266fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile46fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile502fs Single submitter
  • p.Ile742_Glu746del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu426fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Leu549fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu571fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys350_Val351insTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys352fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys374fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys531fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys659_Gln660delinsAsnTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys659fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys674fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys683fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met1fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met1Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met1Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met290_Val291insTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met485fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met768fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met792Lys Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Phe88fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro20fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Pro458fs Single submitter
  • p.Pro637fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro639fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro82fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser246fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser432fs Single submitter Abnormality of the musculature
  • p.Ser581fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser739= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser86fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser86Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr273fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr430fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp130fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp130Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp369Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp455Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp727Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr209Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr216Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr249Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr274fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr336Asn Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr336Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Val235fs Single submitter
  • p.Val338fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Val76fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp360Cys No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A

Pathogenic/Likely pathogenic 71

  • c.1030-1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+2T>C Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1193+2T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1524+1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1782+1072G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2115+2T>C Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2380+2T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-2A>G Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.379+3A>G Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.382del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.498+2T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.632+4A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.633-2A>G Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.945+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala116fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala45Thr Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Ala483Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala497fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg258Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg355Trp Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Arg437Cys Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg437Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Arg440Trp Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Arg448Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg490fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Arg493Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg655fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg769Trp Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Asp780Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln166fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln188fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln459Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln486Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln633Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gln635Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln646Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln738Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu206fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu217Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Glu240Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu285fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Glu553Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly214fs Multiple submitters
  • p.Gly214Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gly221Cys Multiple submitters Abnormality of the musculature
  • p.Gly233Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gly329Arg Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Leu145fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Lys683Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys71fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met248fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met283Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Phe569Ser Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Pro319Leu Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Pro78fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro82Leu Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Ser194fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Ser575fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser606Leu Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Ser744fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser744Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Thr736fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Trp168Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Trp173Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp721Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Trp727fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr170Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr734fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4

Likely pathogenic 178

  • p.Arg289Trp Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg440Gln Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg448Leu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg769Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp419Glu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp419Gly Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln619Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu396Gly Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly367Ser Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Gly441Asp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly446Ser Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ile121Met Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ile502Thr Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu712Phe Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu74fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys207Thr Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys211Asn Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro359Leu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser443Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Val594= Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1193+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1355-2A>G Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1783-5_1784del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+1_2115+2dup Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2115+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.2185-16A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.379+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.633-1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn296delinsArgTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn50Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn776Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp780fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln638fs Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Glu672Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile266_Asp267del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu138Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ter822Leu Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Trp814Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Tyr401Phe Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Val509Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+1dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+2T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1193+1del Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1193+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1355-2A>C Single submitter
  • c.1525-1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1525-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1536+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+5G>C Single submitter
  • c.1782+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1914_1914+18del Single submitter
  • c.1914+1G>A Single submitter
  • c.1914+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1915-2A>C Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1993-2A>G Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2050+2T>G Single submitter
  • c.2051-1G>A Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2112_2115+2del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+4del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-1G>A Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2116-1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2117_2120del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+2T>G Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2381-1G>A Single submitter
  • c.2381-2A>C Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2439+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.379+3A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.499-1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.632+1del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.632+2T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.632+5G>A Single submitter Absent Achilles reflex
  • c.633-2A>C Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.802-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.802-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.945+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala483Thr Single submitter Abnormality of the musculature
  • p.Ala771Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg101Lys Single submitter
  • p.Arg118Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg325Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg437fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg548fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Arg794Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn434Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn449Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn752fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp180Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp230fs Single submitter Abnormality of the musculature
  • p.Asp452His Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Asp737Asn Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Asp77Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Cys106Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Cys181Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln545fs Single submitter Abnormality of the musculature
  • p.Gln545Ter Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gln638Pro Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Gln652Ter Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gln761Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu104Ter Single submitter
  • p.Glu323fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu512= Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Glu582Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu650Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu695Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu746Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu84Ter Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gly115Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly127Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly214Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly221Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly222Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly234Trp Single submitter
  • p.Gly284fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Gly567Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly755Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His334fs Single submitter
  • p.His334Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His774fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Ile317fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Ile777Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu182Gln Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Leu416fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu520fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu87Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys207Arg Single submitter Inborn genetic diseases
  • p.Lys211Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Lys254Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys577fs Single submitter
  • p.Lys725Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met252Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met252Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Met399fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Met666fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Met819_Ter822delinsXaa Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Phe191Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Phe604fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Phe779fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro319Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser154fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Ser260Phe Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ser337Pro Single submitter Abnormality of the musculature
  • p.Ser474fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Ser552fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser581Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser699delinsThrTer Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Ser6fs Single submitter
  • p.Thr706Lys Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Trp373Ter Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Tyr185Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr336Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr745Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr75Ter Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Tyr770Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr770fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Val148Ile Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Val190fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Val681fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Val98fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+1G>A No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-1G>C No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+2T>C No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn223Thr No assertion criteria muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Cys669Ter No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln565fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu412Ter No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu620Ter No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly124fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile47del No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu712_Ter822del No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met1Thr No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser400fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser648fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr628fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Trp376Ter No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2A

Conflicting classifications of pathogenicity 139

  • c.1030-7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+8A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+4_1745+7del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-7C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1800+12G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-3C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-1G>A Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2440-2A>G Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2440-3C>G Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.2440-6_2440-3del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.309+4A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.801+8_801+9del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.802-10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.945+14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.945+15G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.945+5G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.946-29del Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.-104G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*534T>C Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ala133Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala203Val Single submitter Inborn genetic diseases ⚠
  • p.Ala288= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala444= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala45Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala771Thr Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg169His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg197His Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg357Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg357Trp Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg386Cys Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg493Gly Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg541Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg546Cys Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg548His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg608Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg698Cys Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg698His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg769Leu Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Asn117= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn198Ser Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Asn271Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn449Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn528= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn610= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp120Asn Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Asp175= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp310= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp591fs Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Asp707His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp753del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp764= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp77Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Cys264Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gln123Lys Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Gln728= Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Glu16Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu16Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu206= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu349Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Glu512Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Glu562= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu566Lys Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Glu614Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Glu614Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Glu623= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu649= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly124Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly263Asp Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Gly340= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly496Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly515Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly691Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly803= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His164= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His213Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.His334= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His334Leu Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.His514= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His519= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.His757Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile113Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile156= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile178Thr Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Ile256= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile506Thr Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Ile556= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile807fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu126Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu189Pro Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Leu261= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu299= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu421= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu481Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu687= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu703= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Leu815Val Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Lys522= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys634= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Met252Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Phe167Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Phe450= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Phe480Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Phe61= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Phe88Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro345Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro550= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro558Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro78Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser194Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser215Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser265Pro Single submitter Abnormality of the musculature ⚠
  • p.Ser479= Single submitter Inborn genetic diseases
  • p.Ser48Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser606= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser696= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser744Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser90= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr184= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr184Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Thr409= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr430= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr501Ile Single submitter Abnormality of the musculature ⚠
  • p.Trp373Arg Single submitter muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Tyr216= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr401Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Tyr507= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr561His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Tyr745= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr770= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Val176Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val354= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Val555Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val605Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Leu520= No assertion criteria CAPN3-related disorder

Benign 73

Benign/Likely benign 18

  • c.1029+3A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1116-5A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1355-6G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-64C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-12A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala160Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala236Thr Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Asp778Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Cys106= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Cys328= Multiple submitters Inborn genetic diseases
  • p.Glu107Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly21Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Phe165= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro313= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser202= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr32= Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • p.Thr339= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Val811= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A

Likely benign 617

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1800+21C>T Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.-25G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg110Gln Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp753Asn Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • c.1524+81C>T Multiple submitters
  • c.1536+235C>T Multiple submitters
  • c.1782+223A>G Multiple submitters
  • c.1801-188A>G Multiple submitters
  • c.1914+13G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1915-127C>T Multiple submitters
  • c.2051-11C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-29C>T Multiple submitters
  • c.2263+14A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-47G>T Multiple submitters
  • c.309+32T>C Multiple submitters
  • c.310-44A>G Multiple submitters
  • c.379+11G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.380-235G>C Multiple submitters
  • c.499-13C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.801+19G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn187= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asn434= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp468= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Asp753= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gln123= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Glu568= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly436= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly691= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro359= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro82= Multiple submitters Inborn genetic diseases
  • p.Ser474= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Thr693= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1029+10G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1029+10G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1029+13G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1029+17_1029+26del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1029+17_1029+26dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1029+17T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1029+198C>T Single submitter
  • c.1030-19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-4T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-6dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+14C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+181C>A Single submitter
  • c.1115+18A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+20G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1115+9G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1116-14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1116-15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1116-17C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1116-5A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1116-6C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1116-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1193+10G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1193+17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1193+243C>T Single submitter
  • c.1193+8C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-19T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-20C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-26CT[4] Single submitter
  • c.1194-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-7C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-7C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-9A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1194-9A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+13C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+15del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+18T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+19G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+19G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+20G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+20G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+20G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1355-166C>G Single submitter
  • c.1355-6G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1355-6G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1355-7G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+11C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+17G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+7A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1525-15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1525-16T>G Single submitter
  • c.1525-9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1536+10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1536+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1536+16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1536+17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1536+17G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-10C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-11C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-12C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-14T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-15C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-17C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-18G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-33G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-5C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-8TC[2] Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+10G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+13C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+8C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-189G>A Single submitter
  • c.1746-18T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-19_1746-18del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-19A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-6T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1782+306G>T Single submitter
  • c.1782+801C>T Single submitter
  • c.1783-11T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-12T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-14C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-15C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-15C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-17T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-19G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-4G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-7T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-8T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1783-989A>C Single submitter
  • c.1783-9C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1800+16G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1800+19A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1800+5GT[2] Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1800+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1800+9G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-10C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-16_1801-12dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-16T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-17C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-28_1801-10del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-304dup Single submitter
  • c.1801-306_1801-304del Single submitter
  • c.1801-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-7T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-8C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1801-9_1801-3del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1914+11A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1914+11A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1914+11A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1914+16G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1914+18A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1914+310G>A Single submitter
  • c.1914+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1914+9G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1915-35C>A Single submitter
  • c.1915-6C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+11C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+18C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+19A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1992+9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-10T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-13C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-14C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-17T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-5_1993-3del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-8C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1993-9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+12A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+13A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+16C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+16del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+19A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+20T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+26T>G Single submitter
  • c.2050+31T>G Single submitter
  • c.2050+9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-13T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-17C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-19C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-20_2051-17del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-6C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-8C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+12G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+12G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+13C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+15G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+15G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+15G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+16_2115+25del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+7T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-13C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-181C>T Single submitter
  • c.2116-18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-6C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-7C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+11A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+16G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+17A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+7_2184+9del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-13T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-17A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-20C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-4C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-5G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-6T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-7T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-8A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2263+13_2263+16del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2263+13A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2263+15G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2263+16G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2263+17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2263+9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-16A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-97C>T Single submitter
  • c.2264-9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+11del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+12A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+13G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+13G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+14G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+17_2380+26del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2380+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-11T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-14G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-16G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-17_2381-15dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-4A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-9C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2439+151C>T Single submitter
  • c.2439+16A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2439+20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2439+7C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2439+9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-11A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-12G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-13G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-14G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-17C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-4T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-50_2440-49insC Single submitter
  • c.2440-7C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-8_2440-7insA Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.309+15G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.309+232A>G Single submitter
  • c.309+267_309+268dup Single submitter
  • c.309+268del Single submitter
  • c.309+30_309+31insG Single submitter
  • c.309+7A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.309+8G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.310-14T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.310-15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.310-893C>T Single submitter
  • c.379+15C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.379+16A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.379+18G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.379+216G>C Single submitter
  • c.380-15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.380-8G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.498+11G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.498+11G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.498+127T>C Single submitter
  • c.498+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.498+16T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.498+16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A

Uncertain significance 675

Showing the top 300 by review status; the full set is in the sitemap.

  • p.Ala133Val Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Asp452Tyr Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • c.1524+3G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1782+5G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.1914+10C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+4T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+21G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2184+3G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-5C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.379+5G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.498+4A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.632+3A>G Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4
  • c.-131G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala14Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala14Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala160Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala160Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala218Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala227Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala227Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala327Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala335Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala34Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala385Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala497Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala529Thr Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Ala662Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala662Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala726Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala750Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala754Thr Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Ala795Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala7Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala7Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala821Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg147Gln Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg18Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg18Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg197Cys Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg197Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg242Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg289Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg355Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg386His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg461His Multiple submitters autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg493Gln Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg546His Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Arg548Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg572Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg572Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg592Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg592Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg655Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg655Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg788Met Multiple submitters ⚠
  • p.Asn117Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn117His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn195Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn195Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn415Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn612His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn713Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn713Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asn810Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp120Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp179Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp305Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp371Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp419Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp452Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp665Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp686Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp764Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Asp772dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Cys106Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Cys129Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Cys68Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Cys68Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gln142Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln388Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gln459His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gln518Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gln761Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gln96Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln96His Multiple submitters ⚠
  • p.Glu257Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Glu383Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Glu508Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Glu562Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu568Gln Multiple submitters ⚠
  • p.Glu623Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Glu746Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly21Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly259Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly308Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly333Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly361Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly395Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly41Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly55Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly663del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Gly740Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly740Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Gly755Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.His151Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.His151Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.His65Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.His684Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.His718Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His797Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile121Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile156Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile241Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile266Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile287Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile317Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile317Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile502Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile506Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile506Val Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Ile53Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile5Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile603Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile701Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile765Asp Multiple submitters
  • p.Ile777= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ile777Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ile783Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Leu132Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu145Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu205Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu212Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu286Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu464Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu484Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu495Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu694Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu703Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Leu87Val Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Lys250Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys57Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Lys596Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Lys596Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Lys600= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Lys613Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Met248Val Multiple submitters ⚠
  • p.Met283Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Met290Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Met540Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Met700Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Phe200Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Phe796Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Phe80Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro102Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro102Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro103= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Pro103Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro109His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro245Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro26Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro313Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Pro345Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser215Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser265Phe Multiple submitters ⚠
  • p.Ser277Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser279del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser279Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser302Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser400Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser530Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser544Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ser552= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ser559Pro Multiple submitters ⚠
  • p.Thr232Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Thr270Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Thr316Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr3Ala Multiple submitters muscular dystrophy, limb-girdle, autosomal dominant 4 ⚠
  • p.Thr560Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Thr599Ala Multiple submitters ⚠
  • p.Thr706Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Trp398Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Tyr159= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Tyr159Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Tyr185Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Tyr274Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Tyr322His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Tyr507Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val176Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val23Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val431Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val4Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val557Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val590Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val605Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val681Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val681Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val787Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Val811Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val98Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • c.1029+4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1029+6C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-12delinsAAA Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-14T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-14T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1030-30G>C Single submitter
  • c.1193+5G>C Single submitter
  • c.1193+6T>C Single submitter
  • c.1354+129T>A Single submitter autosomal recessive limb-girdle muscular dystrophy
  • c.1354+6A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1354+8A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1355-10G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1524+3del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1525-25A>C Single submitter
  • c.1536+9G>A Single submitter
  • c.1537-29A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1537-29A>T Single submitter
  • c.1537-3C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1745+3G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1746-8C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1782+3G>A Single submitter
  • c.1783-9C>T Single submitter
  • c.1800+5G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1800+6T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1915-3C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.1915-9C>G Single submitter
  • c.2050+2dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2050+6T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2051-3C>G Single submitter
  • c.2051-3C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2115+5C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-19C>G Single submitter
  • c.2116-6C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2116-9_2116-6del Single submitter
  • c.2184+5G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2185-5_2190dup Single submitter
  • c.2263+11G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2263+3G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2263+5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-10C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2264-7T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2381-17T>G Single submitter
  • c.2440-15T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.2440-75C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.309+5G>A Single submitter
  • c.499-28T>G Single submitter
  • c.801+3A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.802-3C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.945_945+47dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.-300C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.-96A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*136C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*139C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*170G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*202A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*211G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*237A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*265C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*375C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*387C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*395G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*436G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • c.*443A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Ala10Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala133Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala134Thr Single submitter ⚠
  • p.Ala136Pro Single submitter ⚠
  • p.Ala15Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala160Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala208Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala210Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala210Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala227Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala255Thr Single submitter ⚠
  • p.Ala335Ser Single submitter ⚠
  • p.Ala34Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala34Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala420Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala444delinsValValProSer Single submitter
  • p.Ala505Pro Single submitter ⚠
  • p.Ala505Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala505Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala670Glu Single submitter ⚠
  • p.Ala670Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala702Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala726Ser Single submitter ⚠
  • p.Ala795Asp Single submitter ⚠
  • p.Ala795Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Ala798Pro Single submitter ⚠
  • p.Arg147= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg147Leu Single submitter ⚠
  • p.Arg169Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg169Gly Single submitter ⚠
  • p.Arg292Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg307Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg312Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg312Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg315= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A
  • p.Arg315Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg315Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠
  • p.Arg315Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2A ⚠