COL6A1 — 2015 ClinVar variants

All ClinVar germline COL6A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 675 flagged for review →

101 Pathogenic · 33 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 374 Conflicting · 203 Benign · 73 Benign/Likely benign · 643 Likely benign · 533 Uncertain significance

Full COL6A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 675

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 3

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

COL6A1 p.Lys121Arg Pathogenic Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ala378Pro Likely pathogenic Single submitter
COL6A1 p.Pro495Ser Likely pathogenic Single submitter
Ullrich congenital muscular dystrophy 1A

Predictors agree, ClinVar conflicts 140

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

COL6A1 p.Ala112Thr Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Ala119Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala119Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala224Thr Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Ala227Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala255Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala366Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala382Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala409Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala409Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala570Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala660Val Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Ala807Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala838Thr Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Ala852Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala90Thr Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Ala90Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala930Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala934Thr Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Ala950Thr Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Ala953Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg1005Pro Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg1014His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg110His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg199Cys Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg210Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg210Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg211Cys Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg262Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg433Gln Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Arg478Gln Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg565Gln Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Arg574Gln Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg574Pro Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg644Trp Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg647Gln Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg677His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg682Gln Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Arg731Cys Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Arg79Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg858Cys Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg888Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg964Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp130Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp223Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp561Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp636Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp908Gly Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp915Asn Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Asp918Asn Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Asp995Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Cys815Phe Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln1010Arg Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Gln451Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu178Lys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu481Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu519Asp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu519Lys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu577Lys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly1015Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly108Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly159Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly170Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly263Asp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly272Ser Conflicting Single submitter
EMG abnormality
COL6A1 p.Gly287Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly314Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly338Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly422Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly535Arg Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Gly553Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly556Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly661Asp Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Gly836Asp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly880Ser Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Gly933Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly949Asp Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.His181Gln Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.His207Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ile562Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ile633Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ile681Val Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Ile756Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ile955Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ile967Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Leu137Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Leu597Trp Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Leu941Phe Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Leu941Val Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Lys135Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Lys319Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Lys571Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Lys610Thr Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Lys61Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Lys688Gln Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Lys813Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Lys937Glu Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Lys990Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Met601Val Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Met697Ile Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Phe762Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Pro23Leu Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Pro26Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Pro483Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Pro747Ala Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ser115Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ser145Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ser145Phe Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ser348Leu Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Ser693Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ser826Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ser879Gly Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Thr205Met Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Thr25Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Thr438Met Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Thr703Met Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Thr710Met Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Thr734Ala Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Thr988Ser Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Thr991Met Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Tyr339His Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Val117Ala Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Val117Met Conflicting Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A1 p.Val142Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val236Met Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Val460Ala Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Val460Ile Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Val619Met Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val674Gly Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val684Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val684Met Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Val805Ile Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Val840Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val840Met Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val876Met Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val904Ile Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val916Ile Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val959Ala Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val985Ile Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Val996Met Conflicting Single submitter
Bethlem myopathy 1A

Predictors lean, ClinVar uncertain 220

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 220

COL6A1 p.Ala132Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ala216Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Ala448Thr Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A1 p.Ala552Pro Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ala698Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Ala852Pro Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Arg424Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Arg456Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Asn537Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Asn72Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Asn770Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Asn917Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Asp558Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Cys606Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Cys607Tyr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Cys609Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Glu173Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Glu408Asp Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Glu412Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Glu487Asp Uncertain significance Multiple submitters
COL6A1 p.Glu487Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Glu887Gly Uncertain significance Multiple submitters
COL6A1 p.Gly126Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Gly126Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Gly359Asp Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Gly404Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Gly419Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Gly497Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Gly503Glu Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A1 p.Gly512Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Gly578Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Gly730Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ile191Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Ile202Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ile822Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Leu1012Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Lys803Gln Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Lys813Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Phe367Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Phe39Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Pro294Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Pro402Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Pro981Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Ser658Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ser732Leu Uncertain significance Multiple submitters
COL6A1 p.Thr127Ala Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Tyr659Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Val142Met Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Val619Leu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 1A
COL6A1 p.Val62Gly Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ala119Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala14Val Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala179Thr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala190Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala30Thr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala3Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala489Thr Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala492Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala552Thr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala570Glu Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala794Thr Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala856Ser Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala856Thr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala901Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala962Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala992Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg110Gly Uncertain significance Single submitter
COL6A1 p.Arg222Leu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg27Ser Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Arg313Met Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg384Thr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg51Lys Uncertain significance Single submitter
COL6A1 p.Arg574Gly Uncertain significance Single submitter
COL6A1 p.Arg5Cys Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg644Pro Uncertain significance Single submitter
COL6A1 p.Arg677Leu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg68His Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Arg885Pro Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg928Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg976Leu Uncertain significance Single submitter
COL6A1 p.Asn177Asp Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Asn530Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asn721His Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asn721Lys Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp194Asn Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp223Ala Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Asp264Asn Uncertain significance Single submitter
COL6A1 p.Asp393Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp557Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp75Asn Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Asp75Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp767Glu Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Asp912Asn Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Cys15Phe Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Cys607Arg Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln298His Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln298Lys Uncertain significance Single submitter
COL6A1 p.Gln451Lys Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln580Arg Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln664Arg Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln664Pro Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln671Leu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln750His Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln883Arg Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln977Leu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu1000Lys Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu149Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu197Gln Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu197Gly Uncertain significance Single submitter
COL6A1 p.Glu226Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu375Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu394Lys Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Glu429Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu46Asp Uncertain significance Single submitter
COL6A1 p.Glu929Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Glu968Asp Uncertain significance Single submitter
COL6A1 p.Glu98Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly136Arg Uncertain significance Single submitter
COL6A1 p.Gly159Trp Uncertain significance Single submitter
COL6A1 p.Gly164Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly170Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly170Trp Uncertain significance Single submitter
COL6A1 p.Gly171Trp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly308Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly314Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly332Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly335Trp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly344Arg Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly350Arg Uncertain significance Single submitter
COL6A1 p.Gly374Cys Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly410Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly419Cys Uncertain significance Single submitter
COL6A1 p.Gly426Asp Uncertain significance Single submitter
collagen 6-related myopathy
COL6A1 p.Gly426Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly446Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly467Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly473Arg Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly473Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly476Ala Uncertain significance Single submitter
COL6A1 p.Gly506Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly520Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly523Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly544Ser Uncertain significance Single submitter
COL6A1 p.Gly547Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly56Arg Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Gly575Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly581Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly587Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly590Arg Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gly590Glu Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 1A

Predictors split 312

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 312

COL6A1 p.Ala724Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ala889Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Arg325His Uncertain significance Multiple submitters
COL6A1 p.Arg424Trp Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Arg456Gly Likely benign Multiple submitters
collagen 6-related myopathy
COL6A1 p.Arg711Gln Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Arg711Trp Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Arg850His Benign Multiple submitters
Ullrich congenital muscular dystrophy 1A
COL6A1 p.Arg928His Benign/Likely benign Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Asp21His Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Asp712His Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Asp905Tyr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Glu268Gly Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Glu429Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Glu956Lys Benign/Likely benign Multiple submitters
collagen 6-related myopathy
COL6A1 p.Gly102Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.His181Tyr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ile203Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ile681Thr Benign Multiple submitters
collagen 6-related myopathy
COL6A1 p.Lys240Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Lys610Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Phe1004Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Pro259Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Pro432Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Pro493Thr Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A1 p.Pro588Gln Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Ser116Asn Benign Multiple submitters
collagen 6-related myopathy
COL6A1 p.Ser780Pro Likely benign Multiple submitters
Inborn genetic diseases
COL6A1 p.Thr881Met Benign/Likely benign Multiple submitters
collagen 6-related myopathy
COL6A1 p.Tyr527Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Tyr573Cys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Val29Met Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A1 p.Val971Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A1 p.Val972Ala Uncertain significance Multiple submitters
COL6A1 p.Ala1026Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala112Pro Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala14Thr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala175Val Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala28Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala4Thr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala514Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala57Asp Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Ala690Gly Uncertain significance Single submitter
COL6A1 p.Ala6Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala706Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala778Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala828Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala838Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala862Val Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Ala868Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala874Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala88Ser Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala88Thr Likely benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala899Thr Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala903Val Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Ala90Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala919Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala935Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala953Thr Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Ala958Asp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala958Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala962Gly Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Ala965Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg1005Cys Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg1005His Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg1014Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg105His Likely benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg105Leu Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg199His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg211Gly Likely benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg222Cys Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg222His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg262Gly Likely benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg262Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg27Trp Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A1 p.Arg2Lys Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg307His Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg325Cys Likely benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg325Gly Likely benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg433Trp Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg439Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg490Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg574Trp Uncertain significance Single submitter
COL6A1 p.Arg5His Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg644Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg647Trp Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg677Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg682Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg68Cys Conflicting Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A1 p.Arg722Cys Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg722His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg731His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg783Trp Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg79His Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg82Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg850Cys Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg854Cys Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg854His Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg858His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg872Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg872Gly Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Arg872Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg885Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg888Trp Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg925Cys Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg928Cys Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg928Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg964Trp Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Arg976Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg984Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Arg984His Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Asn537Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asn683His Uncertain significance Single submitter
collagen 6-related myopathy
COL6A1 p.Asn804Ser Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Asn83Asp Uncertain significance Single submitter
COL6A1 p.Asn946Ser Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp111Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp118Asn Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Asp174Tyr Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp206Gly Uncertain significance Single submitter
COL6A1 p.Asp217Ala Uncertain significance Single submitter
COL6A1 p.Asp217Val Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp21Asn Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp237His Likely benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp285Gly Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp411Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp418Gly Uncertain significance Single submitter
COL6A1 p.Asp444Asn Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp444His Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp480Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp511Gly Uncertain significance Single submitter
COL6A1 p.Asp548Asn Benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp554Val Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Asp60Tyr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp615Asn Likely benign Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp615Glu Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Asp636Asn Uncertain significance Single submitter
COL6A1 p.Asp643Asn Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Asp71Asn Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp75His Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp905Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Asp915Ala Uncertain significance Single submitter
Inborn genetic diseases
COL6A1 p.Asp95Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A1 p.Cys15Arg Uncertain significance Single submitter
COL6A1 p.Cys606Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln1019Arg Conflicting Single submitter
Inborn genetic diseases
COL6A1 p.Gln32His Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln451Leu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A1 p.Gln768His Conflicting Single submitter
collagen 6-related myopathy
COL6A1 p.Glu149Lys Uncertain significance Single submitter
Bethlem myopathy 1A

All COL6A1 variants

Pathogenic 101

c.1002+1G>A Multiple submitters Bethlem myopathy 1A
c.1003-1G>A Multiple submitters Bethlem myopathy 1A
c.1003-2A>G Multiple submitters Bethlem myopathy 1A
c.1003-2del Multiple submitters Bethlem myopathy 1A
c.1056+1G>C Multiple submitters Bethlem myopathy 1A
c.1056+2dup Multiple submitters Bethlem myopathy 1A
c.1611+1G>A Multiple submitters Bethlem myopathy 1B
c.1612-1G>A Multiple submitters Bethlem myopathy 1A
c.428+1G>A Multiple submitters Ullrich congenital muscular dystrophy 1A
c.804+1G>A Multiple submitters Bethlem myopathy 1A
c.805-2A>G Multiple submitters Bethlem myopathy 1A
c.903+1G>T Multiple submitters Bethlem myopathy 1A
c.930+1G>A Multiple submitters Bethlem myopathy 1A
c.931-1G>A Multiple submitters Bethlem myopathy 1A
c.931-1G>C Multiple submitters Bethlem myopathy 1A
c.957+1G>A Multiple submitters Bethlem myopathy 1A
c.957+2T>C Multiple submitters Bethlem myopathy 1A
p.Arg271Ter Multiple submitters Bethlem myopathy 1A
p.Asp548fs Multiple submitters Ullrich congenital muscular dystrophy 1A
p.Glu24fs Multiple submitters Bethlem myopathy 1A
p.Gly269Glu Multiple submitters Bethlem myopathy 1A
p.Gly272Asp Multiple submitters Bethlem myopathy 1A
p.Gly281Arg Multiple submitters COL6A1-related disorder
p.Gly290Glu Multiple submitters Bethlem myopathy 1A
p.Gly299Arg Multiple submitters Bethlem myopathy 1A
p.Gly341Asp Multiple submitters Bethlem myopathy 1A
p.Gly341Cys Multiple submitters Bethlem myopathy 1A
p.Gly341Val Multiple submitters COL6A1-related disorder
p.Gly476fs Multiple submitters Bethlem myopathy 1A
p.Lys121Arg Multiple submitters Bethlem myopathy 1A ⚠
p.Lys185fs Multiple submitters Ullrich congenital muscular dystrophy 1A
c.1002+1G>T Single submitter
c.1002+2T>G Single submitter
c.1003-12_1006delinsGGA Single submitter
c.1003-1G>C Single submitter Abnormality of the musculature
c.1003-1G>T Single submitter Bethlem myopathy 1A
c.1003-2A>C Single submitter Bethlem myopathy 1A
c.1003-3C>A Single submitter Bethlem myopathy 1A
c.1006del Single submitter Ullrich congenital muscular dystrophy 1A
c.1027_1056+76del Single submitter Bethlem myopathy 1A
c.1056+1G>T Single submitter Bethlem myopathy 1A
c.1056+3A>C Single submitter Bethlem myopathy 1A
c.2431_2434+36del Single submitter Bethlem myopathy 1A
c.2434+1G>A Single submitter Other rare neuromuscular disorders
c.739-2A>G Single submitter Bethlem myopathy 1A
c.859-2A>G Single submitter Bethlem myopathy 1A
c.883_903+27delinsCAGGACCTCGGACCTGAGG Single submitter Bethlem myopathy 1A
c.903+2_903+10del Single submitter Bethlem myopathy 1A
c.904-1G>T Single submitter
c.930+137_963delinsGTGGC Single submitter Bethlem myopathy 1A
c.930+2T>A Single submitter Bethlem myopathy 1A
c.957+1G>C Single submitter Bethlem myopathy 1A
c.958-2_958-1del Single submitter Bethlem myopathy 1A
c.958-2A>G Single submitter Bethlem myopathy 1A
c.98-1G>C Single submitter Bethlem myopathy 1A
p.Ala49_Leu50insTer Single submitter Bethlem myopathy 1A
p.Ala778fs Single submitter Bethlem myopathy 1A
p.Arg478Ter Single submitter Bethlem myopathy 1A
p.Arg531fs Single submitter Bethlem myopathy 1A
p.Arg82Ter Single submitter Bethlem myopathy 1A
p.Asn721fs Single submitter
p.Cys820Ter Single submitter Ullrich congenital muscular dystrophy 1A
p.Gln20Ter Single submitter Bethlem myopathy 1A
p.Gln580fs Single submitter Bethlem myopathy 1A
p.Gln708Ter Single submitter
p.Gln735fs Single submitter Ullrich congenital muscular dystrophy 1A
p.Glu251Ter Single submitter Bethlem myopathy 1A
p.Gly272Arg Single submitter Bethlem myopathy 1A
p.Gly275Arg Single submitter Bethlem myopathy 1A
p.Gly275Trp Single submitter Bethlem myopathy 1A
p.Gly278Val Single submitter Bethlem myopathy 1A
p.Gly290Arg Single submitter Bethlem myopathy 1A
p.Gly290Trp Single submitter Bethlem myopathy 1A
p.Gly293Arg Single submitter Bethlem myopathy 1A
p.Gly293Glu Single submitter Bethlem myopathy 1A
p.Gly293Val Single submitter Bethlem myopathy 1A
p.Gly296Arg Single submitter Bethlem myopathy 1A
p.Gly302Arg Single submitter
p.Gly302Glu Single submitter Bethlem myopathy 1A
p.Gly311Cys Single submitter Bethlem myopathy 1A
p.Gly440Ter Single submitter Bethlem myopathy 1A
p.Gly500fs Single submitter Ullrich congenital muscular dystrophy 1A
p.Lys319Asn Single submitter
p.Lys346_Gly347insTer Single submitter
p.Lys640fs Single submitter Bethlem myopathy 1A
p.Met106fs Single submitter
p.Phe851_Arg854del Single submitter Bethlem myopathy 1A
p.Pro576fs Single submitter Bethlem myopathy 1A
p.Ser45fs Single submitter Bethlem myopathy 1A
p.Ser623fs Single submitter Bethlem myopathy 1A
p.Ser623Ter Single submitter Bethlem myopathy 1A
p.Thr104fs Single submitter Bethlem myopathy 1A
p.Thr17fs Single submitter Bethlem myopathy 1A
p.Tyr78Ter Single submitter Ullrich congenital muscular dystrophy 1A
c.1056+2T>C No assertion criteria Bethlem myopathy 1A
c.805-572_903+5delinsTCCCTCCCCATTTCC No assertion criteria ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT
p.Ala489fs No assertion criteria Ullrich congenital muscular dystrophy 1A
p.Gln713Ter No assertion criteria COL6A1-related disorder
p.Gly526Val No assertion criteria Bethlem myopathy 1A
p.Pro286fs No assertion criteria Ullrich congenital muscular dystrophy 1A
p.Tyr659Ter No assertion criteria Ullrich congenital muscular dystrophy 1A

Pathogenic/Likely pathogenic 33

c.1056+1del Multiple submitters Bethlem myopathy 1A
c.1056+1G>A Multiple submitters Bethlem myopathy 1A
c.1056+2T>A Multiple submitters Bethlem myopathy 1A
c.1056+5G>A Multiple submitters Bethlem myopathy 1A
c.1575+1G>A Multiple submitters Bethlem myopathy 1A
c.1576-2_1576-1del Multiple submitters Bethlem myopathy 1A
c.2435-2A>G Multiple submitters Bethlem myopathy 1A
c.805-2A>C Multiple submitters Ullrich congenital muscular dystrophy 1A
c.859-1G>C Multiple submitters Bethlem myopathy 1A
c.904-2A>G Multiple submitters COL6A1-related disorder
c.904-39A>G Multiple submitters Bethlem myopathy 1A
c.930+189C>T Multiple submitters Ullrich congenital muscular dystrophy 1A
c.957_957+7del Multiple submitters Bethlem myopathy 1A
c.98-2_103del Multiple submitters Bethlem myopathy 1A
p.Arg565Ter Multiple submitters Bethlem myopathy 1A
p.Asp733fs Multiple submitters COL6A1-related disorder
p.Gln32Ter Multiple submitters Bethlem myopathy 1A
p.Gly263Val Multiple submitters Bethlem myopathy 1A
p.Gly269Arg Multiple submitters Inborn genetic diseases
p.Gly275Glu Multiple submitters collagen 6-related myopathy
p.Gly275Val Multiple submitters Inborn genetic diseases
p.Gly278Glu Multiple submitters Bethlem myopathy 1A
p.Gly281Glu Multiple submitters Ullrich congenital muscular dystrophy 1A
p.Gly284Arg Multiple submitters collagen 6-related myopathy
p.Gly287Arg Multiple submitters Bethlem myopathy 1A
p.Gly296Glu Multiple submitters Bethlem myopathy 1A
p.Gly296Val Multiple submitters Ullrich congenital muscular dystrophy 1A
p.Gly299Glu Multiple submitters Bethlem myopathy 1A
p.Gly305Glu Multiple submitters Bethlem myopathy 1A
p.Gly311Asp Multiple submitters Bethlem myopathy 1A
p.Gly380Arg Multiple submitters Bethlem myopathy 1A
p.Leu261fs Multiple submitters Bethlem myopathy 1A
p.Lys310del Multiple submitters Ullrich congenital muscular dystrophy 1A

Likely pathogenic 55

p.Gly257Arg Multiple submitters
c.1002+1G>C Single submitter
c.1335+2_1335+3del Single submitter Bethlem myopathy 1A
c.1398+2T>C Single submitter
c.1398+2T>G Single submitter Bethlem myopathy 1A
c.1524+1G>A Single submitter Bethlem myopathy 1A
c.1576-1G>A Single submitter Bethlem myopathy 1A
c.1576-2A>G Single submitter Bethlem myopathy 1A
c.1611+2T>A Single submitter Bethlem myopathy 1A
c.1674+1G>A Single submitter Bethlem myopathy 1A
c.1813+2_1813+3del Single submitter Ullrich congenital muscular dystrophy 1A
c.1823-1G>T Single submitter Bethlem myopathy 1A
c.19dup Single submitter Bethlem myopathy 1A
c.2066+2T>C Single submitter Bethlem myopathy 1A
c.227+1G>A Single submitter
c.588+1G>C Single submitter Bethlem myopathy 1A
c.738+1G>C Single submitter Bethlem myopathy 1A
c.738+1G>T Single submitter Bethlem myopathy 1A
c.748_805-704del Single submitter Bethlem myopathy 1A
c.759+1G>C Single submitter Bethlem myopathy 1A
c.760-1G>A Single submitter Bethlem myopathy 1A
c.805-2A>T Single submitter Bethlem myopathy 1A
c.842_858+7del Single submitter Bethlem myopathy 1A
c.858+1G>A Single submitter Bethlem myopathy 1A
c.928_930+23del Single submitter Bethlem myopathy 1A
c.928_930+9del Single submitter Bethlem myopathy 1A
c.930+1G>T Single submitter Bethlem myopathy 1A
c.957+2T>G Single submitter
c.957+4A>G Single submitter Inborn genetic diseases
p.Ala378Pro Single submitter ⚠
p.Asp37fs Single submitter
p.Asp43Ala Single submitter
p.Asp71fs Single submitter Ullrich congenital muscular dystrophy 1A
p.Cys247Ter Single submitter
p.Gln629Ter Single submitter
p.Glu270_Arg271delinsGly Single submitter Bethlem myopathy 1A
p.Glu595fs Single submitter Bethlem myopathy 1A
p.Gly263Cys Single submitter Ullrich congenital muscular dystrophy 1A
p.Gly263Ser Single submitter Bethlem myopathy 1A
p.Gly302Val Single submitter
p.Gly305Arg Single submitter Bethlem myopathy 1A
p.Gly323Asp Single submitter
p.Gly341Arg Single submitter
p.Gly371Glu Single submitter Bethlem myopathy 1A
p.Gly422fs Single submitter COL6A1-related disorder
p.Gly428Ala Single submitter
p.Gly572Glu Single submitter
p.Leu786fs Single submitter Bethlem myopathy 1A
p.Lys324_Gly326del Single submitter Bethlem myopathy 1A
p.Pro349fs Single submitter
p.Pro495Ser Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Pro589fs Single submitter
p.Pro779fs Single submitter
p.328DGV[1] No assertion criteria Proximal muscle weakness
p.Gly371Arg No assertion criteria Bethlem myopathy 1A

Conflicting classifications of pathogenicity 374

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

c.1003-10C>T Single submitter Bethlem myopathy 1A
c.1056+4A>G Single submitter Bethlem myopathy 1A
c.1056+5G>T Single submitter Bethlem myopathy 1A
c.1119+13C>T Single submitter collagen 6-related myopathy
c.1273-4T>C Single submitter Bethlem myopathy 1A
c.1398+10G>A Single submitter collagen 6-related myopathy
c.1399-3C>T Single submitter collagen 6-related myopathy
c.1399-8C>G Single submitter Bethlem myopathy 1A
c.1461+7C>T Single submitter Bethlem myopathy 1A
c.1525-9C>T Single submitter Bethlem myopathy 1A
c.1568_1575+1dup Single submitter Bethlem myopathy 1A
c.1611+8C>T Single submitter Bethlem myopathy 1A
c.1612-15C>G Single submitter collagen 6-related myopathy
c.1741-6G>A Single submitter Bethlem myopathy 1A
c.1776+1G>A Single submitter Ullrich congenital muscular dystrophy 1A
c.1814-8C>T Single submitter Bethlem myopathy 1A
c.1822+11G>A Single submitter Bethlem myopathy 1A
c.1823-9C>T Single submitter Bethlem myopathy 1A
c.1957-4A>G Single submitter Bethlem myopathy 1A
c.227+11C>T Single submitter collagen 6-related myopathy
c.2434+19G>A Single submitter Bethlem myopathy 1A
c.2464+9C>T Single submitter Bethlem myopathy 1A
c.2465-4G>A Single submitter Bethlem myopathy 1A
c.2465-7C>T Single submitter Bethlem myopathy 1A
c.429-8C>T Single submitter Bethlem myopathy 1A
c.588+10G>A Single submitter Bethlem myopathy 1A
c.588+12_588+13insA Single submitter Bethlem myopathy 1A
c.588+8C>G Single submitter collagen 6-related myopathy
c.717+4A>G Single submitter Bethlem myopathy 1A
c.717+9C>T Single submitter Bethlem myopathy 1A
c.738+14C>T Single submitter Bethlem myopathy 1A
c.739-5C>G Single submitter Bethlem myopathy 1A
c.739-5C>T Single submitter Bethlem myopathy 1A
c.739-9C>T Single submitter collagen 6-related myopathy
c.759+13C>T Single submitter Bethlem myopathy 1A
c.859-18T>A Single submitter
c.930+10G>A Single submitter Bethlem myopathy 1A
c.931-5C>T Single submitter collagen 6-related myopathy
c.957+6C>G Single submitter Bethlem myopathy 1A
c.957+6C>T Single submitter collagen 6-related myopathy
c.957+7G>A Single submitter Bethlem myopathy 1A
c.957+7G>C Single submitter Bethlem myopathy 1A
c.958-10C>T Single submitter Bethlem myopathy 1A
c.958-9G>A Single submitter Bethlem myopathy 1A
p.Ala1026Val Single submitter Bethlem myopathy 1A ⚠
p.Ala112Thr Single submitter collagen 6-related myopathy ⚠
p.Ala119= Single submitter Bethlem myopathy 1A
p.Ala119Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala119Val Single submitter Bethlem myopathy 1A ⚠
p.Ala175= Single submitter Bethlem myopathy 1A
p.Ala224Thr Single submitter Inborn genetic diseases ⚠
p.Ala227Val Single submitter Bethlem myopathy 1A ⚠
p.Ala255Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala366Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala382Val Single submitter Bethlem myopathy 1A ⚠
p.Ala409Glu Single submitter Bethlem myopathy 1A ⚠
p.Ala409Val Single submitter Bethlem myopathy 1A ⚠
p.Ala514Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala552= Single submitter Bethlem myopathy 1A
p.Ala570= Single submitter collagen 6-related myopathy
p.Ala570Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala57Asp Single submitter collagen 6-related myopathy ⚠
p.Ala660= Single submitter Bethlem myopathy 1A
p.Ala660Val Single submitter Inborn genetic diseases ⚠
p.Ala706Ser Single submitter Bethlem myopathy 1A ⚠
p.Ala778Val Single submitter Bethlem myopathy 1A ⚠
p.Ala807Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala838Thr Single submitter Inborn genetic diseases ⚠
p.Ala852Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala862Val Single submitter Inborn genetic diseases ⚠
p.Ala874Val Single submitter Bethlem myopathy 1A ⚠
p.Ala899= Single submitter Bethlem myopathy 1A
p.Ala903= Single submitter Bethlem myopathy 1A
p.Ala90Thr Single submitter Inborn genetic diseases ⚠
p.Ala90Val Single submitter Bethlem myopathy 1A ⚠
p.Ala930Val Single submitter Bethlem myopathy 1A ⚠
p.Ala934Thr Single submitter Inborn genetic diseases ⚠
p.Ala935Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala950Thr Single submitter Inborn genetic diseases ⚠
p.Ala953Ser Single submitter Bethlem myopathy 1A ⚠
p.Ala953Thr Single submitter collagen 6-related myopathy ⚠
p.Ala958Asp Single submitter Bethlem myopathy 1A ⚠
p.Ala958Val Single submitter Bethlem myopathy 1A ⚠
p.Ala962Gly Single submitter Bethlem myopathy 1A ⚠
p.Ala965Val Single submitter Bethlem myopathy 1A ⚠
p.Arg1005Cys Single submitter Inborn genetic diseases ⚠
p.Arg1005His Single submitter Inborn genetic diseases ⚠
p.Arg1005Pro Single submitter Bethlem myopathy 1A ⚠
p.Arg1014Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg1014His Single submitter Bethlem myopathy 1A ⚠
p.Arg110His Single submitter Bethlem myopathy 1A ⚠
p.Arg199Cys Single submitter Inborn genetic diseases ⚠
p.Arg199His Single submitter Bethlem myopathy 1A ⚠
p.Arg210Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg210Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg211Cys Single submitter Inborn genetic diseases ⚠
p.Arg222= Single submitter Bethlem myopathy 1A
p.Arg222Cys Single submitter Inborn genetic diseases ⚠
p.Arg222His Single submitter Bethlem myopathy 1A ⚠
p.Arg262Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg262Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg307His Single submitter Inborn genetic diseases ⚠
p.Arg433Gln Single submitter collagen 6-related myopathy ⚠
p.Arg433Trp Single submitter Inborn genetic diseases ⚠
p.Arg439Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg478Gln Single submitter Inborn genetic diseases ⚠
p.Arg565Gln Single submitter collagen 6-related myopathy ⚠
p.Arg574Gln Single submitter Inborn genetic diseases ⚠
p.Arg574Pro Single submitter Bethlem myopathy 1A ⚠
p.Arg644Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg644Trp Single submitter Inborn genetic diseases ⚠
p.Arg647Gln Single submitter Inborn genetic diseases ⚠
p.Arg647Trp Single submitter Inborn genetic diseases ⚠
p.Arg677Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg677His Single submitter Bethlem myopathy 1A ⚠
p.Arg682Gln Single submitter collagen 6-related myopathy ⚠
p.Arg682Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg68Cys Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Arg722His Single submitter Bethlem myopathy 1A ⚠
p.Arg731Cys Single submitter collagen 6-related myopathy ⚠
p.Arg731His Single submitter Bethlem myopathy 1A ⚠
p.Arg783= Single submitter Bethlem myopathy 1A
p.Arg79Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg82Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg854Cys Single submitter Inborn genetic diseases ⚠
p.Arg854His Single submitter Inborn genetic diseases ⚠
p.Arg858Cys Single submitter Inborn genetic diseases ⚠
p.Arg858His Single submitter Bethlem myopathy 1A ⚠
p.Arg864= Single submitter Bethlem myopathy 1A
p.Arg872Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg872Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg885Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg888Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg888Trp Single submitter Inborn genetic diseases ⚠
p.Arg928Leu Single submitter Bethlem myopathy 1A ⚠
p.Arg964Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg964Trp Single submitter Inborn genetic diseases ⚠
p.Arg976Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg984Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg984His Single submitter Inborn genetic diseases ⚠
p.Asn177= Single submitter Bethlem myopathy 1A
p.Asn242= Single submitter Bethlem myopathy 1A
p.Asn804Ser Single submitter Inborn genetic diseases ⚠
p.Asn87= Single submitter collagen 6-related myopathy
p.Asn911= Single submitter Bethlem myopathy 1A
p.Asp111Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp118Asn Single submitter Inborn genetic diseases ⚠
p.Asp130Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp174Tyr Single submitter Bethlem myopathy 1A ⚠
p.Asp223Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp285Gly Single submitter Bethlem myopathy 1A ⚠
p.Asp331= Single submitter Bethlem myopathy 1A
p.Asp411= Single submitter Bethlem myopathy 1A
p.Asp411Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp418= Single submitter collagen 6-related myopathy
p.Asp444His Single submitter Bethlem myopathy 1A ⚠
p.Asp480Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp557= Single submitter collagen 6-related myopathy
p.Asp561Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp636Glu Single submitter Bethlem myopathy 1A ⚠
p.Asp729= Single submitter Bethlem myopathy 1A
p.Asp870= Single submitter Bethlem myopathy 1A
p.Asp905Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp908Gly Single submitter Bethlem myopathy 1A ⚠
p.Asp915Asn Single submitter Inborn genetic diseases ⚠
p.Asp918Asn Single submitter collagen 6-related myopathy ⚠
p.Asp95Glu Single submitter Bethlem myopathy 1A ⚠
p.Asp995Asn Single submitter Bethlem myopathy 1A ⚠
p.Cys594= Single submitter Bethlem myopathy 1A
p.Cys815Phe Single submitter Bethlem myopathy 1A ⚠
p.Gln1010Arg Single submitter collagen 6-related myopathy ⚠
p.Gln1019Arg Single submitter Inborn genetic diseases ⚠
p.Gln451Arg Single submitter Bethlem myopathy 1A ⚠
p.Gln768His Single submitter collagen 6-related myopathy ⚠
p.Glu173= Single submitter Bethlem myopathy 1A
p.Glu178Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu251Lys Single submitter collagen 6-related myopathy ⚠
p.Glu282_Gly284del Single submitter Bethlem myopathy 1A
p.Glu372Gly Single submitter Bethlem myopathy 1A ⚠
p.Glu375Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu468Lys Single submitter Inborn genetic diseases ⚠
p.Glu481Val Single submitter Bethlem myopathy 1A ⚠
p.Glu519Asp Single submitter Bethlem myopathy 1A ⚠
p.Glu519Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu577Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu595Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu654Gln Single submitter collagen 6-related myopathy ⚠
p.Glu654Lys Single submitter Inborn genetic diseases ⚠
p.Glu672Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu857Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu929Lys Single submitter Inborn genetic diseases ⚠
p.Gly1015Ser Single submitter Bethlem myopathy 1A ⚠
p.Gly108Ser Single submitter Bethlem myopathy 1A ⚠
p.Gly109Ser Single submitter Bethlem myopathy 1A ⚠
p.Gly159Arg Single submitter Bethlem myopathy 1A ⚠
p.Gly170Arg Single submitter Bethlem myopathy 1A ⚠
p.Gly183Asp Single submitter Bethlem myopathy 1A ⚠
p.Gly260= Single submitter Bethlem myopathy 1A
p.Gly263= Single submitter Inborn genetic diseases
p.Gly263Asp Single submitter Bethlem myopathy 1A ⚠
p.Gly272Ser Single submitter EMG abnormality ⚠
p.Gly287Glu Single submitter Bethlem myopathy 1A ⚠
p.Gly314Glu Single submitter Bethlem myopathy 1A ⚠
p.Gly332= Single submitter Bethlem myopathy 1A
p.Gly338Glu Single submitter Bethlem myopathy 1A ⚠
p.Gly359Asn Single submitter Bethlem myopathy 1A
p.Gly365Ser Single submitter Inborn genetic diseases ⚠
p.Gly374= Single submitter Bethlem myopathy 1A
p.Gly389Ala Single submitter Bethlem myopathy 1A ⚠
p.Gly422Arg Single submitter Bethlem myopathy 1A ⚠
p.Gly479= Single submitter Bethlem myopathy 1A
p.Gly535Arg Single submitter collagen 6-related myopathy ⚠
p.Gly553= Single submitter Bethlem myopathy 1A
p.Gly553Arg Single submitter Bethlem myopathy 1A ⚠
p.Gly556Arg Single submitter Bethlem myopathy 1A ⚠
p.Gly612Ser Single submitter Bethlem myopathy 1A ⚠
p.Gly661Ala Single submitter Bethlem myopathy 1A ⚠
p.Gly661Asp Single submitter Inborn genetic diseases ⚠
p.Gly699= Single submitter Bethlem myopathy 1A
p.Gly785= Single submitter collagen 6-related myopathy
p.Gly836Asp Single submitter Bethlem myopathy 1A ⚠
p.Gly880Ser Single submitter Inborn genetic diseases ⚠
p.Gly933Ser Single submitter Bethlem myopathy 1A ⚠
p.Gly949Asp Single submitter Inborn genetic diseases ⚠
p.Gly966Ser Single submitter Inborn genetic diseases ⚠
p.Gly989Ser Single submitter Bethlem myopathy 1A ⚠
p.His1002Gln Single submitter Inborn genetic diseases ⚠
p.His181Gln Single submitter Inborn genetic diseases ⚠
p.His207Gln Single submitter Bethlem myopathy 1A ⚠
p.Ile203= Single submitter Bethlem myopathy 1A
p.Ile232= Single submitter Bethlem myopathy 1A
p.Ile235= Single submitter Bethlem myopathy 1A
p.Ile239= Single submitter Bethlem myopathy 1A
p.Ile562Val Single submitter Bethlem myopathy 1A ⚠
p.Ile633Thr Single submitter Bethlem myopathy 1A ⚠
p.Ile681Val Single submitter collagen 6-related myopathy ⚠
p.Ile756Val Single submitter Bethlem myopathy 1A ⚠
p.Ile955Val Single submitter Bethlem myopathy 1A ⚠
p.Ile967Val Single submitter Bethlem myopathy 1A ⚠
p.Leu137Val Single submitter Bethlem myopathy 1A ⚠
p.Leu141= Single submitter Bethlem myopathy 1A
p.Leu162fs Single submitter Bethlem myopathy 1A
p.Leu342_Gly344del Single submitter Bethlem myopathy 1A
p.Leu597Trp Single submitter Inborn genetic diseases ⚠
p.Leu617del Single submitter Bethlem myopathy 1A
p.Leu786= Single submitter Bethlem myopathy 1A
p.Leu940= Single submitter Bethlem myopathy 1A
p.Leu941Phe Single submitter Inborn genetic diseases ⚠
p.Leu941Val Single submitter Inborn genetic diseases ⚠
p.Leu986= Single submitter collagen 6-related myopathy
p.Lys135Gln Single submitter Bethlem myopathy 1A ⚠
p.Lys180Arg Single submitter Bethlem myopathy 1A ⚠
p.Lys185Arg Single submitter Inborn genetic diseases ⚠
p.Lys319= Single submitter Ullrich congenital muscular dystrophy 1A
p.Lys319Arg Single submitter Bethlem myopathy 1A ⚠
p.Lys571Thr Single submitter Bethlem myopathy 1A ⚠
p.Lys610Thr Single submitter Inborn genetic diseases ⚠
p.Lys61Glu Single submitter Bethlem myopathy 1A ⚠
p.Lys688Gln Single submitter Inborn genetic diseases ⚠
p.Lys813Arg Single submitter Bethlem myopathy 1A ⚠
p.Lys937Glu Single submitter collagen 6-related myopathy ⚠
p.Lys990Gln Single submitter Bethlem myopathy 1A ⚠
p.Met106Val Single submitter Bethlem myopathy 1A ⚠
p.Met601Val Single submitter Inborn genetic diseases ⚠
p.Met697Ile Single submitter Inborn genetic diseases ⚠
p.Phe250Leu Single submitter Bethlem myopathy 1A ⚠
p.Phe637= Single submitter Bethlem myopathy 1A
p.Phe653= Single submitter Bethlem myopathy 1A
p.Phe762Ser Single submitter Bethlem myopathy 1A ⚠
p.Phe851= Single submitter Bethlem myopathy 1A
p.Phe970= Single submitter Bethlem myopathy 1A
p.Pro198= Single submitter Bethlem myopathy 1A
p.Pro198Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro23Leu Single submitter Inborn genetic diseases ⚠
p.Pro259Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro265= Single submitter Bethlem myopathy 1A
p.Pro265Leu Single submitter collagen 6-related myopathy ⚠
p.Pro26Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro274= Single submitter Bethlem myopathy 1A
p.Pro274Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro294Ala Single submitter Inborn genetic diseases ⚠
p.Pro364= Single submitter Bethlem myopathy 1A
p.Pro450= Single submitter Bethlem myopathy 1A
p.Pro450Leu Single submitter Inborn genetic diseases ⚠
p.Pro483Ser Single submitter Bethlem myopathy 1A ⚠
p.Pro484Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro502Leu Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Pro513= Single submitter Bethlem myopathy 1A
p.Pro522= Single submitter Bethlem myopathy 1A
p.Pro528= Single submitter collagen 6-related myopathy
p.Pro534= Single submitter Bethlem myopathy 1A
p.Pro555= Single submitter collagen 6-related myopathy
p.Pro582Leu Single submitter Inborn genetic diseases ⚠
p.Pro588Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro613Thr Single submitter Bethlem myopathy 1A ⚠
p.Pro679Ser Single submitter Inborn genetic diseases ⚠
p.Pro716Leu Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Pro719Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro747Ala Single submitter Bethlem myopathy 1A ⚠
p.Pro827Leu Single submitter Bethlem myopathy 1A ⚠

Benign 203

c.1002+145C>T Multiple submitters
c.1002+43A>G Multiple submitters
c.1002+45T>C Multiple submitters
c.1002+55T>C Multiple submitters
c.1002+77C>T Multiple submitters
c.1003-61T>G Multiple submitters
c.1119+189T>C Multiple submitters
c.1182+20C>T Multiple submitters Bethlem myopathy 1A
c.1273-138G>A Multiple submitters
c.1335+116C>T Multiple submitters
c.1335+185T>C Multiple submitters
c.1335+27A>C Multiple submitters Ullrich congenital muscular dystrophy 1A
c.1398+120T>C Multiple submitters
c.1398+28G>A Multiple submitters
c.1399-111A>G Multiple submitters
c.1399-129A>G Multiple submitters
c.1399-32T>C Multiple submitters Ullrich congenital muscular dystrophy 1A
c.1461+18C>A Multiple submitters Bethlem myopathy 1A
c.1461+41dup Multiple submitters
c.1462-36A>G Multiple submitters Ullrich congenital muscular dystrophy 1A
c.1524+19G>C Multiple submitters Bethlem myopathy 1A
c.1525-60A>G Multiple submitters
c.1576-78G>C Multiple submitters
c.1611+217T>C Multiple submitters
c.1612-10G>A Multiple submitters collagen 6-related myopathy
c.1675-55C>T Multiple submitters
c.1740+145G>T Multiple submitters
c.1741-51G>A Multiple submitters
c.1776+141A>G Multiple submitters
c.1776+164G>A Multiple submitters
c.1776+174G>A Multiple submitters
c.1776+188T>C Multiple submitters
c.1776+198C>T Multiple submitters
c.1776+91C>T Multiple submitters
c.1813+137C>T Multiple submitters
c.1813+25T>G Multiple submitters
c.1814-6C>G Multiple submitters collagen 6-related myopathy
c.1822+185C>T Multiple submitters
c.1822+231G>A Multiple submitters
c.1822+42G>C Multiple submitters
c.1822+45C>G Multiple submitters
c.1822+45C>T Multiple submitters
c.1822+80G>A Multiple submitters
c.1822+88A>G Multiple submitters
c.1823-196A>G Multiple submitters
c.1823-199G>T Multiple submitters
c.1823-8G>A Multiple submitters collagen 6-related myopathy
c.1956+15C>T Multiple submitters collagen 6-related myopathy
c.1957-11C>T Multiple submitters collagen 6-related myopathy
c.1957-5C>T Multiple submitters collagen 6-related myopathy
c.1957-78G>A Multiple submitters
c.1957-82C>T Multiple submitters
c.2251-29C>T Multiple submitters
c.2434+15A>G Multiple submitters collagen 6-related myopathy
c.2434+20G>A Multiple submitters Bethlem myopathy 1A
c.2434+55G>A Multiple submitters
c.2434+88C>T Multiple submitters
c.2435-19C>T Multiple submitters Bethlem myopathy 1A
c.2464+70C>G Multiple submitters
c.2465-72C>T Multiple submitters
c.428+14A>G Multiple submitters collagen 6-related myopathy
c.428+40G>A Multiple submitters
c.429-19G>A Multiple submitters Ullrich congenital muscular dystrophy 1A
c.588+13C>A Multiple submitters collagen 6-related myopathy
c.588+19dup Multiple submitters Bethlem myopathy 1A
c.589-57G>A Multiple submitters
c.739-51C>T Multiple submitters
c.805-208G>C Multiple submitters
c.858+188G>C Multiple submitters
c.858+62C>T Multiple submitters
c.859-19A>G Multiple submitters Ullrich congenital muscular dystrophy 1A
c.903+13C>A Multiple submitters Bethlem myopathy 1A
c.903+14C>A Multiple submitters collagen 6-related myopathy
c.-5C>G Multiple submitters collagen 6-related myopathy
c.*145C>T Multiple submitters collagen 6-related myopathy
c.*260A>G Multiple submitters collagen 6-related myopathy
c.*379C>A Multiple submitters collagen 6-related myopathy
c.*419A>G Multiple submitters collagen 6-related myopathy
c.*887C>T Multiple submitters collagen 6-related myopathy
p.Ala889= Multiple submitters collagen 6-related myopathy
p.Arg439Gln Multiple submitters collagen 6-related myopathy
p.Arg850His Multiple submitters Ullrich congenital muscular dystrophy 1A ⚠
p.Asp912= Multiple submitters collagen 6-related myopathy
p.Gly365= Multiple submitters collagen 6-related myopathy
p.Gly748Ser Multiple submitters Bethlem myopathy 1A
p.Ile681Thr Multiple submitters collagen 6-related myopathy ⚠
p.Pro259= Multiple submitters Bethlem myopathy 1A
p.Pro591= Multiple submitters collagen 6-related myopathy
p.Ser116Asn Multiple submitters collagen 6-related myopathy ⚠
p.Ser890Leu Multiple submitters collagen 6-related myopathy
p.Ser932= Multiple submitters collagen 6-related myopathy
p.Thr438= Multiple submitters collagen 6-related myopathy
p.Tyr927= Multiple submitters collagen 6-related myopathy
c.1002+21_1002+40dup Single submitter Bethlem myopathy 1A
c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG Single submitter
c.1002+43_1002+50del Single submitter
c.1002+43_1002+52del Single submitter
c.1002+44_1002+82del Single submitter
c.1002+50C>T Single submitter
c.1002+90del Single submitter
c.1119+209A>G Single submitter
c.1119+261G>A Single submitter
c.1120-13del Single submitter Bethlem myopathy 1A
c.1273-151G>A Single submitter
c.1336-152G>T Single submitter
c.1399-175_1399-163del Single submitter
c.1399-246C>T Single submitter
c.1399-272_1399-210del Single submitter
c.1612-80dup Single submitter
c.1674+46_1674+47dup Single submitter
c.1740+17G>A Single submitter Bethlem myopathy 1A
c.1740+18G>T Single submitter Bethlem myopathy 1A
c.1776+107dup Single submitter
c.1776+173_1776+174insAGATCATAGGGGGACGTGTGA Single submitter
c.1776+182_1776+183insA Single submitter
c.1777-229G>A Single submitter
c.1814-106_1814-90del Single submitter
c.1814-108_1814-92del Single submitter
c.1814-147_1814-140del Single submitter
c.228-140G>C Single submitter
c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC Single submitter Bethlem myopathy 1A
c.2435-18G>A Single submitter Bethlem myopathy 1A
c.428+213AGAGAC[3] Single submitter
c.588+18_588+19dup Single submitter Bethlem myopathy 1A
c.588+19del Single submitter Bethlem myopathy 1A
c.738+24del Single submitter Bethlem myopathy 1A
c.739-5del Single submitter Bethlem myopathy 1A
c.759+15del Single submitter Bethlem myopathy 1A
c.759+15dup Single submitter Bethlem myopathy 1A
c.804+140del Single submitter
c.931-198_931-165del Single submitter
c.97+222_97+226dup Single submitter
c.98-214C>T Single submitter
c.98-320dup Single submitter
c.-40C>T Single submitter collagen 6-related myopathy
c.-65C>G Single submitter collagen 6-related myopathy
c.*302G>T Single submitter collagen 6-related myopathy
c.*441G>A Single submitter collagen 6-related myopathy
c.*575A>G Single submitter collagen 6-related myopathy
c.*729C>T Single submitter collagen 6-related myopathy
c.*797C>T Single submitter collagen 6-related myopathy
c.*923G>A Single submitter collagen 6-related myopathy
p.Ala112Ser Single submitter Bethlem myopathy 1A
p.Ala112Val Single submitter Bethlem myopathy 1A
p.Ala175Val Single submitter Bethlem myopathy 1A ⚠
p.Ala255Pro Single submitter Bethlem myopathy 1A
p.Ala698= Single submitter Bethlem myopathy 1A
p.Ala862= Single submitter Bethlem myopathy 1A
p.Ala962= Single submitter collagen 6-related myopathy
p.Arg1023= Single submitter Bethlem myopathy 1A
p.Arg105Leu Single submitter Bethlem myopathy 1A ⚠
p.Arg783Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg79His Single submitter Bethlem myopathy 1A ⚠
p.Arg850Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg885His Single submitter Bethlem myopathy 1A
p.Arg888Pro Single submitter Bethlem myopathy 1A
p.Arg925Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg928= Single submitter Bethlem myopathy 1A
p.Arg928Cys Single submitter Bethlem myopathy 1A ⚠
p.Asn742= Single submitter Bethlem myopathy 1A
p.Asn911Asp Single submitter Bethlem myopathy 1A
p.Asn946Ser Single submitter Bethlem myopathy 1A ⚠
p.Asp217Val Single submitter Bethlem myopathy 1A ⚠
p.Asp444Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp511= Single submitter Bethlem myopathy 1A
p.Asp548Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp870Asn Single submitter Bethlem myopathy 1A
p.Asp95= Single submitter Bethlem myopathy 1A
p.Gln298= Single submitter Bethlem myopathy 1A
p.Glu173Lys Single submitter Bethlem myopathy 1A
p.Glu279Gly Single submitter Bethlem myopathy 1A ⚠
p.Glu577Ala Single submitter Bethlem myopathy 1A
p.Glu632Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu798Asp Single submitter Bethlem myopathy 1A
p.Glu887Lys Single submitter Bethlem myopathy 1A ⚠
p.Gly126= Single submitter Bethlem myopathy 1A
p.Gly482= Single submitter Bethlem myopathy 1A
p.Gly700Ser Single submitter Bethlem myopathy 1A ⚠
p.Gly785Ser Single submitter Bethlem myopathy 1A ⚠
p.Gly89= Single submitter Bethlem myopathy 1A
p.Gly933= Single submitter Bethlem myopathy 1A
p.Gly949= Single submitter Bethlem myopathy 1A
p.His869= Single submitter Bethlem myopathy 1A
p.Ile614= Single submitter Bethlem myopathy 1A
p.Ile723= Single submitter Bethlem myopathy 1A
p.Ile749Val Single submitter Bethlem myopathy 1A
p.Ile983Val Single submitter Bethlem myopathy 1A
p.Lys114Glu Single submitter Bethlem myopathy 1A
p.Pro161= Single submitter Bethlem myopathy 1A
p.Pro397Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro421= Single submitter Bethlem myopathy 1A
p.Pro779Leu Single submitter Bethlem myopathy 1A ⚠
p.Pro9= Single submitter Bethlem myopathy 1A
p.Ser115Thr Single submitter Bethlem myopathy 1A ⚠
p.Ser306Arg Single submitter Bethlem myopathy 1A ⚠
p.Ser902Asn Single submitter Bethlem myopathy 1A ⚠
p.Ser931Leu Single submitter Bethlem myopathy 1A ⚠
p.Ser947Leu Single submitter Bethlem myopathy 1A ⚠
p.Val184Ile Single submitter Bethlem myopathy 1A
p.Val243Met Single submitter Bethlem myopathy 1A ⚠
p.Val638Ile Single submitter Bethlem myopathy 1A
p.Val639Ile Single submitter Bethlem myopathy 1A
p.Val743Leu Single submitter Bethlem myopathy 1A ⚠

Benign/Likely benign 73

c.1002+37A>G Multiple submitters
c.1002+50C>A Multiple submitters
c.1003-15del Multiple submitters Bethlem myopathy 1A
c.1119+19del Multiple submitters Bethlem myopathy 1A
c.1119+39C>T Multiple submitters
c.1120-12G>A Multiple submitters Bethlem myopathy 1A
c.1182+3G>A Multiple submitters collagen 6-related myopathy
c.1273-8C>T Multiple submitters Bethlem myopathy 1A
c.1335+20G>C Multiple submitters Bethlem myopathy 1A
c.1336-15C>T Multiple submitters collagen 6-related myopathy
c.1336-17G>A Multiple submitters Bethlem myopathy 1A
c.1524+15G>A Multiple submitters collagen 6-related myopathy
c.1612-6C>T Multiple submitters Bethlem myopathy 1A
c.1740+50C>T Multiple submitters
c.1741-13G>A Multiple submitters Bethlem myopathy 1A
c.1776+13C>T Multiple submitters collagen 6-related myopathy
c.1823-13C>T Multiple submitters collagen 6-related myopathy
c.1823-31C>T Multiple submitters
c.2067-10T>C Multiple submitters collagen 6-related myopathy
c.2067-15C>T Multiple submitters Bethlem myopathy 1A
c.2250+6G>C Multiple submitters collagen 6-related myopathy
c.227+15C>T Multiple submitters Bethlem myopathy 1A
c.2434+15_2434+54del Multiple submitters Bethlem myopathy 1A
c.428+39C>G Multiple submitters
c.588+37A>G Multiple submitters
c.717+32C>T Multiple submitters
c.739-11del Multiple submitters Bethlem myopathy 1A
c.739-18C>T Multiple submitters Bethlem myopathy 1A
c.759+16G>A Multiple submitters Bethlem myopathy 1A
c.859-20C>T Multiple submitters
c.958-17G>A Multiple submitters Bethlem myopathy 1A
c.97+20G>A Multiple submitters Ullrich congenital muscular dystrophy 1A
c.*294G>A Multiple submitters collagen 6-related myopathy
c.*87C>T Multiple submitters collagen 6-related myopathy
p.Ala1026= Multiple submitters Bethlem myopathy 1A
p.Ala215= Multiple submitters collagen 6-related myopathy
p.Ala492Val Multiple submitters collagen 6-related myopathy
p.Ala874= Multiple submitters collagen 6-related myopathy
p.Arg783Gln Multiple submitters collagen 6-related myopathy
p.Arg850Ser Multiple submitters collagen 6-related myopathy
p.Arg928His Multiple submitters Bethlem myopathy 1A ⚠
p.Asn537= Multiple submitters collagen 6-related myopathy
p.Asn683= Multiple submitters Bethlem myopathy 1A
p.Asp352= Multiple submitters collagen 6-related myopathy
p.Asp393= Multiple submitters Bethlem myopathy 1A
p.Asp548= Multiple submitters Bethlem myopathy 1A
p.Asp592= Multiple submitters collagen 6-related myopathy
p.Cys611= Multiple submitters collagen 6-related myopathy
p.Gln808His Multiple submitters collagen 6-related myopathy
p.Glu481= Multiple submitters Bethlem myopathy 1A
p.Glu649Lys Multiple submitters Bethlem myopathy 1A
p.Glu956Lys Multiple submitters collagen 6-related myopathy ⚠
p.Gly108= Multiple submitters collagen 6-related myopathy
p.Gly170= Multiple submitters Bethlem myopathy 1A
p.Gly506= Multiple submitters collagen 6-related myopathy
p.His1018= Multiple submitters collagen 6-related myopathy
p.Ile327= Multiple submitters collagen 6-related myopathy
p.Ile955= Multiple submitters collagen 6-related myopathy
p.Leu597= Multiple submitters Bethlem myopathy 1A
p.Leu650= Multiple submitters Bethlem myopathy 1A
p.Leu687= Multiple submitters collagen 6-related myopathy
p.Leu920= Multiple submitters Bethlem myopathy 1A
p.Lys814Arg Multiple submitters collagen 6-related myopathy
p.Pro193= Multiple submitters collagen 6-related myopathy
p.Pro502= Multiple submitters collagen 6-related myopathy
p.Pro740= Multiple submitters Bethlem myopathy 1A
p.Ser839= Multiple submitters Bethlem myopathy 1A
p.Thr205= Multiple submitters Bethlem myopathy 1A
p.Thr710= Multiple submitters collagen 6-related myopathy
p.Thr823= Multiple submitters collagen 6-related myopathy
p.Thr881Met Multiple submitters collagen 6-related myopathy ⚠
p.Thr914= Multiple submitters collagen 6-related myopathy
p.Val333Met Multiple submitters collagen 6-related myopathy

Likely benign 643

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

c.1003-149C>T Multiple submitters
c.1057-14C>T Multiple submitters collagen 6-related myopathy
c.1120-19C>T Multiple submitters Bethlem myopathy 1A
c.1236+14C>T Multiple submitters Bethlem myopathy 1A
c.1272+11C>T Multiple submitters Bethlem myopathy 1A
c.1335+139G>A Multiple submitters
c.1335+164G>A Multiple submitters
c.1336-12G>A Multiple submitters Bethlem myopathy 1A
c.1398+236C>T Multiple submitters
c.1462-19G>A Multiple submitters Bethlem myopathy 1A
c.1462-8C>T Multiple submitters Bethlem myopathy 1A
c.1524+19G>A Multiple submitters Bethlem myopathy 1A
c.1611+20C>T Multiple submitters Bethlem myopathy 1A
c.1611+9G>A Multiple submitters Bethlem myopathy 1A
c.1675-16C>T Multiple submitters Bethlem myopathy 1A
c.1740+13G>T Multiple submitters collagen 6-related myopathy
c.1740+156C>T Multiple submitters
c.1741-137C>T Multiple submitters
c.1957-17C>T Multiple submitters Bethlem myopathy 1A
c.2066+12A>C Multiple submitters Bethlem myopathy 1A
c.2066+15C>A Multiple submitters Bethlem myopathy 1A
c.228-18C>T Multiple submitters Bethlem myopathy 1A
c.228-57G>A Multiple submitters
c.2435-132C>T Multiple submitters
c.2435-78G>A Multiple submitters
c.2464+11C>T Multiple submitters Bethlem myopathy 1A
c.2464+14C>T Multiple submitters Bethlem myopathy 1A
c.2464+18C>T Multiple submitters Bethlem myopathy 1A
c.2464+70C>T Multiple submitters
c.429-30C>T Multiple submitters
c.588+9C>T Multiple submitters Bethlem myopathy 1A
c.805-36G>A Multiple submitters
c.904-18C>T Multiple submitters Bethlem myopathy 1A
c.930+13C>T Multiple submitters collagen 6-related myopathy
c.930+14G>A Multiple submitters Bethlem myopathy 1A
c.930+20G>C Multiple submitters Bethlem myopathy 1A
c.930+30T>C Multiple submitters
c.931-17G>A Multiple submitters Bethlem myopathy 1A
c.931-4G>A Multiple submitters Bethlem myopathy 1A
c.958-38C>T Multiple submitters
p.Ala856= Multiple submitters Bethlem myopathy 1A
p.Ala958= Multiple submitters Bethlem myopathy 1A
p.Arg110= Multiple submitters Bethlem myopathy 1A
p.Arg456Gly Multiple submitters collagen 6-related myopathy ⚠
p.Arg647= Multiple submitters Bethlem myopathy 1A
p.Asp158= Multiple submitters Bethlem myopathy 1A
p.Asp835= Multiple submitters Bethlem myopathy 1A
p.Asp915= Multiple submitters Bethlem myopathy 1A
p.Cys131= Multiple submitters Bethlem myopathy 1A
p.Gln629= Multiple submitters Bethlem myopathy 1A
p.Glu429= Multiple submitters Bethlem myopathy 1A
p.Gly171= Multiple submitters Bethlem myopathy 1A
p.Gly329Arg Multiple submitters Bethlem myopathy 1A
p.His673Gln Multiple submitters collagen 6-related myopathy
p.Leu1003= Multiple submitters Bethlem myopathy 1A
p.Leu1012= Multiple submitters Bethlem myopathy 1A
p.Phe250= Multiple submitters Inborn genetic diseases
p.Phe631= Multiple submitters Bethlem myopathy 1A
p.Pro23= Multiple submitters Bethlem myopathy 1A
p.Pro402= Multiple submitters Bethlem myopathy 1A
p.Pro54= Multiple submitters Bethlem myopathy 1A
p.Ser766= Multiple submitters Bethlem myopathy 1A
p.Ser780Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr157= Multiple submitters Bethlem myopathy 1A
p.Thr539= Multiple submitters Bethlem myopathy 1A
p.Tyr998= Multiple submitters Bethlem myopathy 1A
p.Val663= Multiple submitters Bethlem myopathy 1A
p.Val674= Multiple submitters Bethlem myopathy 1A
p.Val973= Multiple submitters Bethlem myopathy 1A
c.1002+10G>T Single submitter Bethlem myopathy 1A
c.1002+11G>A Single submitter Bethlem myopathy 1A
c.1002+12_1002+19del Single submitter Bethlem myopathy 1A
c.1002+12G>C Single submitter Bethlem myopathy 1A
c.1002+13A>C Single submitter Bethlem myopathy 1A
c.1002+13A>G Single submitter Bethlem myopathy 1A
c.1002+13A>T Single submitter Bethlem myopathy 1A
c.1002+14G>A Single submitter Bethlem myopathy 1A
c.1002+14G>T Single submitter Bethlem myopathy 1A
c.1002+15A>C Single submitter Bethlem myopathy 1A
c.1002+15A>T Single submitter Bethlem myopathy 1A
c.1002+16T>C Single submitter Bethlem myopathy 1A
c.1002+16T>G Single submitter Bethlem myopathy 1A
c.1002+17A>C Single submitter Bethlem myopathy 1A
c.1002+17A>G Single submitter Bethlem myopathy 1A
c.1002+17A>T Single submitter Bethlem myopathy 1A
c.1002+18G>T Single submitter Bethlem myopathy 1A
c.1002+19G>A Single submitter Bethlem myopathy 1A
c.1002+20A>C Single submitter Bethlem myopathy 1A
c.1002+20A>G Single submitter Bethlem myopathy 1A
c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG Single submitter Bethlem myopathy 1A
c.1002+6_1002+88del Single submitter Bethlem myopathy 1A
c.1002+7G>A Single submitter Bethlem myopathy 1A
c.1002+7G>T Single submitter Bethlem myopathy 1A
c.1002+8G>A Single submitter Bethlem myopathy 1A
c.1002+8G>T Single submitter Bethlem myopathy 1A
c.1002+9G>A Single submitter Bethlem myopathy 1A
c.1002+9G>T Single submitter Bethlem myopathy 1A
c.1003-10C>G Single submitter Bethlem myopathy 1A
c.1003-11C>T Single submitter Bethlem myopathy 1A
c.1003-4C>A Single submitter Bethlem myopathy 1A
c.1003-4C>T Single submitter Bethlem myopathy 1A
c.1003-8C>G Single submitter Bethlem myopathy 1A
c.1056+9C>G Single submitter Bethlem myopathy 1A
c.1057-16G>A Single submitter Bethlem myopathy 1A
c.1057-17del Single submitter Bethlem myopathy 1A
c.1119+10T>C Single submitter Bethlem myopathy 1A
c.1119+14G>A Single submitter Bethlem myopathy 1A
c.1119+16C>A Single submitter Bethlem myopathy 1A
c.1119+16C>T Single submitter Bethlem myopathy 1A
c.1119+19C>T Single submitter Bethlem myopathy 1A
c.1120-12G>T Single submitter Bethlem myopathy 1A
c.1120-13C>T Single submitter Bethlem myopathy 1A
c.1120-15C>A Single submitter Bethlem myopathy 1A
c.1182+12C>T Single submitter Bethlem myopathy 1A
c.1182+14C>T Single submitter Bethlem myopathy 1A
c.1182+16G>T Single submitter Bethlem myopathy 1A
c.1182+17C>T Single submitter Bethlem myopathy 1A
c.1182+18C>G Single submitter Bethlem myopathy 1A
c.1183-15C>T Single submitter Bethlem myopathy 1A
c.1183-18A>C Single submitter Bethlem myopathy 1A
c.1236+20A>G Single submitter Bethlem myopathy 1A
c.1237-11C>G Single submitter Bethlem myopathy 1A
c.1237-11C>T Single submitter Bethlem myopathy 1A
c.1237-5C>T Single submitter Bethlem myopathy 1A
c.1272+12A>G Single submitter Bethlem myopathy 1A
c.1272+13G>A Single submitter Bethlem myopathy 1A
c.1272+98T>C Single submitter
c.1273-12C>G Single submitter Bethlem myopathy 1A
c.1273-18C>G Single submitter Bethlem myopathy 1A
c.1273-20C>T Single submitter Bethlem myopathy 1A
c.1273-7C>T Single submitter Bethlem myopathy 1A
c.1335+7C>T Single submitter Bethlem myopathy 1A
c.1335+9C>T Single submitter Bethlem myopathy 1A
c.1336-13C>A Single submitter Bethlem myopathy 1A
c.1336-13C>T Single submitter Bethlem myopathy 1A
c.1336-16G>T Single submitter Bethlem myopathy 1A
c.1336-184C>T Single submitter
c.1336-18C>T Single submitter Bethlem myopathy 1A
c.1336-19dup Single submitter Bethlem myopathy 1A
c.1336-288G>A Single submitter
c.1398+171G>A Single submitter
c.1398+18G>A Single submitter Bethlem myopathy 1A
c.1399-10C>G Single submitter Bethlem myopathy 1A
c.1399-12A>C Single submitter Bethlem myopathy 1A
c.1399-14C>G Single submitter Bethlem myopathy 1A
c.1399-17T>C Single submitter Bethlem myopathy 1A
c.1399-19C>A Single submitter Bethlem myopathy 1A
c.1399-20C>T Single submitter Bethlem myopathy 1A
c.1399-210C>T Single submitter
c.1399-8C>T Single submitter Bethlem myopathy 1A
c.1461+10A>T Single submitter Bethlem myopathy 1A
c.1461+15C>G Single submitter Bethlem myopathy 1A
c.1461+17_1461+26del Single submitter Bethlem myopathy 1A
c.1461+17A>C Single submitter Bethlem myopathy 1A
c.1461+17dup Single submitter Bethlem myopathy 1A
c.1461+34C>G Single submitter
c.1461+9C>T Single submitter Bethlem myopathy 1A
c.1462-12C>T Single submitter Bethlem myopathy 1A
c.1462-15C>A Single submitter Bethlem myopathy 1A
c.1462-16T>G Single submitter Bethlem myopathy 1A
c.1462-20C>T Single submitter Bethlem myopathy 1A
c.1524+112G>A Single submitter
c.1524+13C>T Single submitter Bethlem myopathy 1A
c.1524+176C>A Single submitter
c.1524+18C>T Single submitter Bethlem myopathy 1A
c.1525-18G>A Single submitter Bethlem myopathy 1A
c.1525-18G>T Single submitter Bethlem myopathy 1A
c.1525-19G>A Single submitter Bethlem myopathy 1A
c.1525-20C>T Single submitter Bethlem myopathy 1A
c.1525-4C>T Single submitter Bethlem myopathy 1A
c.1525-74C>A Single submitter
c.1575+11G>A Single submitter Bethlem myopathy 1A
c.1576-17C>T Single submitter Bethlem myopathy 1A
c.1611+10C>T Single submitter Bethlem myopathy 1A
c.1611+12C>T Single submitter Bethlem myopathy 1A
c.1611+17C>T Single submitter Bethlem myopathy 1A
c.1611+48C>T Single submitter
c.1612-11C>T Single submitter Bethlem myopathy 1A
c.1612-13C>T Single submitter Bethlem myopathy 1A
c.1612-14T>C Single submitter Bethlem myopathy 1A
c.1612-18G>A Single submitter Bethlem myopathy 1A
c.1612-4G>A Single submitter Bethlem myopathy 1A
c.1612-5T>C Single submitter Bethlem myopathy 1A
c.1674+15G>A Single submitter
c.1674+15G>C Single submitter Bethlem myopathy 1A
c.1674+7G>A Single submitter Bethlem myopathy 1A
c.1675-10T>A Single submitter Bethlem myopathy 1A
c.1675-15G>A Single submitter Bethlem myopathy 1A
c.1675-19C>T Single submitter Bethlem myopathy 1A
c.1675-40G>A Single submitter
c.1740+14G>T Single submitter Bethlem myopathy 1A
c.1740+18G>A Single submitter Bethlem myopathy 1A
c.1740+19G>A Single submitter Bethlem myopathy 1A
c.1741-14C>T Single submitter Bethlem myopathy 1A
c.1741-7C>T Single submitter Bethlem myopathy 1A
c.1776+11C>T Single submitter Bethlem myopathy 1A
c.1776+12T>G Single submitter
c.1776+13C>G Single submitter Bethlem myopathy 1A
c.1776+16_1776+17del Single submitter Bethlem myopathy 1A
c.1776+16T>G Single submitter Bethlem myopathy 1A
c.1776+173_1776+174insAGATCATAGGGGGAACGTGTGA Single submitter
c.1776+223_1776+224insA Single submitter
c.1776+224_1776+225insA Single submitter
c.1776+249_1776+250insAA Single submitter
c.1776+7G>A Single submitter Bethlem myopathy 1A
c.1777-16G>A Single submitter Bethlem myopathy 1A
c.1777-17C>T Single submitter Bethlem myopathy 1A
c.1777-20C>G Single submitter Bethlem myopathy 1A
c.1777-20C>T Single submitter Bethlem myopathy 1A
c.1777-282del Single submitter
c.1777-282dup Single submitter
c.1777-8C>T Single submitter Bethlem myopathy 1A
c.1813+12T>C Single submitter Bethlem myopathy 1A
c.1813+13G>C Single submitter Bethlem myopathy 1A
c.1813+20C>T Single submitter Bethlem myopathy 1A
c.1814-15_1814-12del Single submitter Bethlem myopathy 1A
c.1814-18T>C Single submitter Bethlem myopathy 1A
c.1814-53G>T Single submitter
c.1814-67_1814-66insG Single submitter
c.1814-6C>T Single submitter Bethlem myopathy 1A
c.1822+10A>G Single submitter Bethlem myopathy 1A
c.1822+11G>T Single submitter Bethlem myopathy 1A
c.1822+14del Single submitter Bethlem myopathy 1A
c.1822+18G>A Single submitter Bethlem myopathy 1A
c.1822+70C>T Single submitter
c.1822+9C>G Single submitter Bethlem myopathy 1A
c.1822+9C>T Single submitter Bethlem myopathy 1A
c.1823-12C>T Single submitter Bethlem myopathy 1A
c.1823-14G>A Single submitter Bethlem myopathy 1A
c.1823-15C>T Single submitter Bethlem myopathy 1A
c.1823-183C>T Single submitter
c.1956+11G>A Single submitter Bethlem myopathy 1A
c.1956+16G>A Single submitter Bethlem myopathy 1A
c.1956+16G>T Single submitter Bethlem myopathy 1A
c.1956+19C>T Single submitter Bethlem myopathy 1A
c.1956+20G>A Single submitter Bethlem myopathy 1A
c.1956+286T>G Single submitter
c.1956+9T>C Single submitter
c.1957-16G>A Single submitter Bethlem myopathy 1A
c.1957-16G>C Single submitter Bethlem myopathy 1A
c.1957-199G>A Single submitter
c.1957-284A>G Single submitter
c.1957-7C>T Single submitter Bethlem myopathy 1A
c.1957-8T>A Single submitter Bethlem myopathy 1A
c.2066+13C>T Single submitter Bethlem myopathy 1A
c.2066+15C>T Single submitter Bethlem myopathy 1A
c.2066+16G>A Single submitter Bethlem myopathy 1A
c.2066+16G>T Single submitter Bethlem myopathy 1A
c.2067-18C>T Single submitter Bethlem myopathy 1A
c.2067-6A>G Single submitter Bethlem myopathy 1A
c.2250+11C>T Single submitter Bethlem myopathy 1A
c.2250+19G>C Single submitter
c.2250+9G>A Single submitter Bethlem myopathy 1A
c.2251-16C>T Single submitter Bethlem myopathy 1A
c.2251-20G>A Single submitter Bethlem myopathy 1A
c.227+12G>T Single submitter Bethlem myopathy 1A
c.227+157_227+225dup Single submitter
c.227+16C>G Single submitter Bethlem myopathy 1A
c.227+16C>T Single submitter Bethlem myopathy 1A
c.227+17G>A Single submitter Bethlem myopathy 1A
c.227+239C>T Single submitter
c.228-151C>G Single submitter
c.228-17G>A Single submitter Bethlem myopathy 1A
c.228-20G>A Single submitter Bethlem myopathy 1A
c.228-7del Single submitter Bethlem myopathy 1A
c.228-8C>T Single submitter Bethlem myopathy 1A
c.2434+116_2434+156del Single submitter
c.2434+117G>A Single submitter
c.2434+13C>T Single submitter Bethlem myopathy 1A
c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGCGTAGGTGCACGCGGGGCC Single submitter Bethlem myopathy 1A
c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT Single submitter Bethlem myopathy 1A
c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCC Single submitter Bethlem myopathy 1A
c.2434+15_2434+94del Single submitter Bethlem myopathy 1A
c.2434+16C>G Single submitter Bethlem myopathy 1A
c.2434+18C>G Single submitter Bethlem myopathy 1A
c.2434+45_2434+124del Single submitter Bethlem myopathy 1A
c.2434+45_2434+84del Single submitter Bethlem myopathy 1A
c.2434+7A>C Single submitter Bethlem myopathy 1A
c.2434+8T>A Single submitter Bethlem myopathy 1A
c.2434+8T>C Single submitter Bethlem myopathy 1A
c.2434+8T>G Single submitter Bethlem myopathy 1A
c.2434+9G>T Single submitter Bethlem myopathy 1A
c.2435-129C>T Single submitter
c.2435-13T>C Single submitter Bethlem myopathy 1A
c.2435-13T>G Single submitter Bethlem myopathy 1A
c.2435-165G>A Single submitter
c.2464+12G>A Single submitter Bethlem myopathy 1A
c.2464+15G>A Single submitter Bethlem myopathy 1A
c.2464+19G>A Single submitter Bethlem myopathy 1A
c.2464+20G>C Single submitter Bethlem myopathy 1A
c.2465-10C>T Single submitter Bethlem myopathy 1A
c.2465-5C>T Single submitter Bethlem myopathy 1A
c.2465-61C>T Single submitter
c.2465-78C>T Single submitter
c.2465-9G>A Single submitter Bethlem myopathy 1A
c.428+10C>T Single submitter Bethlem myopathy 1A
c.428+11C>T Single submitter Bethlem myopathy 1A
c.428+131C>T Single submitter
c.428+253A>G Single submitter
c.429-11C>T Single submitter Bethlem myopathy 1A

Uncertain significance 533

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

c.1002+6T>C Multiple submitters Bethlem myopathy 1A
c.1236+5G>A Multiple submitters Bethlem myopathy 1A
c.1273-3C>T Multiple submitters Bethlem myopathy 1A
c.1461+4A>G Multiple submitters Bethlem myopathy 1A
c.1575+2_1575+3insCTT Multiple submitters Bethlem myopathy 1A
c.1777-3C>T Multiple submitters Bethlem myopathy 1A
c.228-7C>T Multiple submitters collagen 6-related myopathy
c.2434+5G>T Multiple submitters Bethlem myopathy 1A
c.2435-36A>C Multiple submitters
c.428+5G>A Multiple submitters Bethlem myopathy 1A
c.904-10G>A Multiple submitters Bethlem myopathy 1A
c.904-39A>T Multiple submitters Bethlem myopathy 1A
c.958-3_958-2del Multiple submitters Bethlem myopathy 1A
c.98-3C>G Multiple submitters
c.98-6G>A Multiple submitters Bethlem myopathy 1A
c.-1C>T Multiple submitters
p.Ala132Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala216Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala448Thr Multiple submitters collagen 6-related myopathy ⚠
p.Ala552Pro Multiple submitters Bethlem myopathy 1A ⚠
p.Ala698Val Multiple submitters Inborn genetic diseases ⚠
p.Ala724Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala852Pro Multiple submitters Bethlem myopathy 1A ⚠
p.Ala889Val Multiple submitters Bethlem myopathy 1A ⚠
p.Arg325His Multiple submitters ⚠
p.Arg424= Multiple submitters Bethlem myopathy 1A
p.Arg424Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg424Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg456Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Arg711Gln Multiple submitters Bethlem myopathy 1A ⚠
p.Arg711Trp Multiple submitters Bethlem myopathy 1A ⚠
p.Asn537Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Asn72Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Asn770Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Asn917Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Asp21His Multiple submitters Bethlem myopathy 1A ⚠
p.Asp558Asn Multiple submitters Bethlem myopathy 1A ⚠
p.Asp712His Multiple submitters Bethlem myopathy 1A ⚠
p.Asp905Tyr Multiple submitters Bethlem myopathy 1A ⚠
p.Cys606Phe Multiple submitters Inborn genetic diseases ⚠
p.Cys607Tyr Multiple submitters Bethlem myopathy 1A ⚠
p.Cys609Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu173Val Multiple submitters Bethlem myopathy 1A ⚠
p.Glu268Gly Multiple submitters Bethlem myopathy 1A ⚠
p.Glu408Asp Multiple submitters Bethlem myopathy 1A ⚠
p.Glu412Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu429Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Glu487Asp Multiple submitters ⚠
p.Glu487Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu887Gly Multiple submitters ⚠
p.Gly102Val Multiple submitters Inborn genetic diseases ⚠
p.Gly126Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly126Val Multiple submitters Bethlem myopathy 1A ⚠
p.Gly359Asp Multiple submitters Bethlem myopathy 1A ⚠
p.Gly404Arg Multiple submitters Bethlem myopathy 1A ⚠
p.Gly419Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly497Arg Multiple submitters Bethlem myopathy 1A ⚠
p.Gly503Glu Multiple submitters collagen 6-related myopathy ⚠
p.Gly512Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Gly578Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Gly730Arg Multiple submitters Bethlem myopathy 1A ⚠
p.His181Tyr Multiple submitters Bethlem myopathy 1A ⚠
p.Ile191Val Multiple submitters Inborn genetic diseases ⚠
p.Ile202Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ile203Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ile822Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Leu1012Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys240Asn Multiple submitters Bethlem myopathy 1A ⚠
p.Lys610Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys803Gln Multiple submitters Bethlem myopathy 1A ⚠
p.Lys813Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Lys937del Multiple submitters Bethlem myopathy 1A
p.Phe1004Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Phe367Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe39Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Pro259Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Pro294Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro402Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro432Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Pro466= Multiple submitters Bethlem myopathy 1A
p.Pro493Thr Multiple submitters collagen 6-related myopathy ⚠
p.Pro525= Multiple submitters Bethlem myopathy 1A
p.Pro588Gln Multiple submitters Bethlem myopathy 1A ⚠
p.Pro655_Gln657del Multiple submitters Bethlem myopathy 1A
p.Pro981Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser658Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Ser732Leu Multiple submitters ⚠
p.Thr127Ala Multiple submitters Bethlem myopathy 1A ⚠
p.Tyr527Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr573Cys Multiple submitters Bethlem myopathy 1A ⚠
p.Tyr659Phe Multiple submitters Inborn genetic diseases ⚠
p.Val142Met Multiple submitters Bethlem myopathy 1A ⚠
p.Val29Met Multiple submitters Inborn genetic diseases ⚠
p.Val619Leu Multiple submitters Ullrich congenital muscular dystrophy 1A ⚠
p.Val62Gly Multiple submitters Bethlem myopathy 1A ⚠
p.Val971Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Val972Ala Multiple submitters ⚠
c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG Single submitter Bethlem myopathy 1A
c.1002+5_1002+6insCCGGGGAGGGA Single submitter Bethlem myopathy 1A
c.1002+6_1002+89del Single submitter Bethlem myopathy 1A
c.1002+6_1003-135del Single submitter Bethlem myopathy 1A
c.1003-3C>G Single submitter Bethlem myopathy 1A
c.1003-5T>A Single submitter Bethlem myopathy 1A
c.1056+4A>C Single submitter Bethlem myopathy 1A
c.1182+5G>C Single submitter Bethlem myopathy 1A
c.1183-3_1183-2del Single submitter
c.1236+2T>G Single submitter
c.1236+3G>A Single submitter Bethlem myopathy 1A
c.1236+5G>C Single submitter Bethlem myopathy 1A
c.1272+3G>A Single submitter Bethlem myopathy 1A
c.1335+3G>A Single submitter Bethlem myopathy 1A
c.1336-146C>T Single submitter
c.1398+3A>G Single submitter
c.1524+19_1524+20delinsCA Single submitter Bethlem myopathy 1A
c.1525-3del Single submitter
c.1575+2dup Single submitter Bethlem myopathy 1A
c.1575+4A>G Single submitter Bethlem myopathy 1A
c.1575+6T>C Single submitter Bethlem myopathy 1A
c.1611+16_1611+17delinsAT Single submitter Bethlem myopathy 1A
c.1612-3C>T Single submitter Bethlem myopathy 1A
c.1612-5T>A Single submitter
c.1674+3_1674+6del Single submitter Bethlem myopathy 1A
c.1675-5T>G Single submitter Bethlem myopathy 1A
c.1740+3G>A Single submitter Bethlem myopathy 1A
c.1740+3G>C Single submitter Bethlem myopathy 1A
c.1740+5G>A Single submitter Bethlem myopathy 1A
c.1777-9C>T Single submitter collagen 6-related myopathy
c.1813+3_1813+6del Single submitter Bethlem myopathy 1A
c.1814-7_1814-6delinsAA Single submitter Bethlem myopathy 1A
c.1822+5G>A Single submitter COL6A1-related disorder
c.1823-8G>T Single submitter
c.1956+5G>T Single submitter Bethlem myopathy 1A
c.1957-10G>A Single submitter Bethlem myopathy 1A
c.2251-11_2251-8del Single submitter Bethlem myopathy 1A
c.2251-6C>T Single submitter
c.227+5G>C Single submitter Bethlem myopathy 1A
c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC Single submitter Bethlem myopathy 1A
c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC Single submitter Bethlem myopathy 1A
c.2434+14_2434+15inv Single submitter Bethlem myopathy 1A
c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC Single submitter Bethlem myopathy 1A
c.2434+3G>A Single submitter Bethlem myopathy 1A
c.2434+4C>T Single submitter Bethlem myopathy 1A
c.2434+5G>A Single submitter Bethlem myopathy 1A
c.2464+1G>A Single submitter Bethlem myopathy 1A
c.2465-13C>T Single submitter collagen 6-related myopathy
c.428+14_428+15delinsGA Single submitter Bethlem myopathy 1A
c.428+28G>A Single submitter
c.428+5G>C Single submitter Bethlem myopathy 1A
c.588+12_588+13delinsTA Single submitter Bethlem myopathy 1A
c.589-3C>T Single submitter Bethlem myopathy 1A
c.589-6C>A Single submitter
c.717+1G>A Single submitter Ullrich congenital muscular dystrophy 1A
c.717+9C>G Single submitter Bethlem myopathy 1A
c.738+8C>G Single submitter
c.739-10C>G Single submitter
c.759+6T>A Single submitter Bethlem myopathy 1A
c.760-3C>T Single submitter Bethlem myopathy 1A
c.858+5G>A Single submitter Bethlem myopathy 1A
c.858+5G>T Single submitter Bethlem myopathy 1A
c.859-19_859-18delinsGA Single submitter Bethlem myopathy 1A
c.859-22A>G Single submitter
c.903+3_903+7delinsCCTTC Single submitter
c.903+4C>T Single submitter Bethlem myopathy 1A
c.903+5G>A Single submitter Bethlem myopathy 1A
c.904-3T>G Single submitter Bethlem myopathy 1A
c.930+20G>A Single submitter Bethlem myopathy 1A
c.931-3C>A Single submitter
c.957+4A>T Single submitter Bethlem myopathy 1A
c.957+5G>A Single submitter
c.97+6T>G Single submitter
c.-19G>A Single submitter
c.-76G>A Single submitter collagen 6-related myopathy
c.*138G>A Single submitter collagen 6-related myopathy
c.*13G>A Single submitter collagen 6-related myopathy
c.*146G>A Single submitter collagen 6-related myopathy
c.*171C>T Single submitter collagen 6-related myopathy
c.*182A>G Single submitter collagen 6-related myopathy
c.*236G>A Single submitter collagen 6-related myopathy
c.*343G>A Single submitter collagen 6-related myopathy
c.*343G>C Single submitter collagen 6-related myopathy
c.*367C>A Single submitter collagen 6-related myopathy
c.*369C>T Single submitter collagen 6-related myopathy
c.*447T>C Single submitter collagen 6-related myopathy
c.*526C>T Single submitter collagen 6-related myopathy
c.*633T>C Single submitter collagen 6-related myopathy
c.*635G>A Single submitter collagen 6-related myopathy
c.*648C>T Single submitter collagen 6-related myopathy
c.*675G>A Single submitter collagen 6-related myopathy
c.*754C>T Single submitter collagen 6-related myopathy
c.*785C>T Single submitter collagen 6-related myopathy
c.*78G>A Single submitter collagen 6-related myopathy
c.*814C>T Single submitter collagen 6-related myopathy
c.*851T>C Single submitter collagen 6-related myopathy
c.*8T>G Single submitter
c.*940C>T Single submitter collagen 6-related myopathy
c.*985C>T Single submitter collagen 6-related myopathy
p.Ala112Pro Single submitter Inborn genetic diseases ⚠
p.Ala119Glu Single submitter Bethlem myopathy 1A ⚠
p.Ala14Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala14Val Single submitter Inborn genetic diseases ⚠
p.Ala179Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala190Val Single submitter Bethlem myopathy 1A ⚠
p.Ala28Val Single submitter Bethlem myopathy 1A ⚠
p.Ala3= Single submitter
p.Ala30Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala3Val Single submitter Bethlem myopathy 1A ⚠
p.Ala489Thr Single submitter Inborn genetic diseases ⚠
p.Ala492Asp Single submitter Bethlem myopathy 1A ⚠
p.Ala4Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala552Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala570Glu Single submitter Inborn genetic diseases ⚠
p.Ala690Gly Single submitter ⚠
p.Ala6Gly Single submitter Bethlem myopathy 1A ⚠
p.Ala794Thr Single submitter Inborn genetic diseases ⚠
p.Ala828Asp Single submitter Bethlem myopathy 1A ⚠
p.Ala838Val Single submitter Bethlem myopathy 1A ⚠
p.Ala852_Phe859del Single submitter Bethlem myopathy 1A
p.Ala856Ser Single submitter Inborn genetic diseases ⚠
p.Ala856Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala868Val Single submitter Bethlem myopathy 1A ⚠
p.Ala88Ser Single submitter Inborn genetic diseases ⚠
p.Ala899Thr Single submitter Inborn genetic diseases ⚠
p.Ala901Gly Single submitter Bethlem myopathy 1A ⚠
p.Ala903Val Single submitter Inborn genetic diseases ⚠
p.Ala90Gly Single submitter Bethlem myopathy 1A ⚠
p.Ala919Val Single submitter Bethlem myopathy 1A ⚠
p.Ala962Val Single submitter Bethlem myopathy 1A ⚠
p.Ala992Val Single submitter Bethlem myopathy 1A ⚠
p.Arg110Gly Single submitter ⚠
p.Arg222Leu Single submitter Bethlem myopathy 1A ⚠
p.Arg27Ser Single submitter Inborn genetic diseases ⚠
p.Arg27Trp Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Arg2Lys Single submitter Bethlem myopathy 1A ⚠
p.Arg313Met Single submitter Bethlem myopathy 1A ⚠
p.Arg384Thr Single submitter Bethlem myopathy 1A ⚠
p.Arg490Gly Single submitter Bethlem myopathy 1A ⚠
p.Arg51Lys Single submitter ⚠
p.Arg574Gly Single submitter ⚠
p.Arg574Trp Single submitter ⚠
p.Arg5Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg5His Single submitter Bethlem myopathy 1A ⚠
p.Arg644Pro Single submitter ⚠
p.Arg677Leu Single submitter Bethlem myopathy 1A ⚠
p.Arg68His Single submitter Inborn genetic diseases ⚠
p.Arg722Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg76= Single submitter
p.Arg872Gly Single submitter Inborn genetic diseases ⚠
p.Arg885Pro Single submitter Bethlem myopathy 1A ⚠
p.Arg928Ser Single submitter Bethlem myopathy 1A ⚠
p.Arg976Leu Single submitter ⚠
p.Asn177Asp Single submitter Inborn genetic diseases ⚠
p.Asn530Ser Single submitter Bethlem myopathy 1A ⚠
p.Asn537Asp Single submitter Bethlem myopathy 1A ⚠
p.Asn630= Single submitter collagen 6-related myopathy
p.Asn683His Single submitter collagen 6-related myopathy ⚠
p.Asn721His Single submitter Bethlem myopathy 1A ⚠
p.Asn721Lys Single submitter Bethlem myopathy 1A ⚠
p.Asn83Asp Single submitter ⚠
p.Asn911del Single submitter Bethlem myopathy 1A
p.Asp130_Ile133del Single submitter
p.Asp194Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp206Gly Single submitter ⚠
p.Asp217Ala Single submitter ⚠
p.Asp21Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp223Ala Single submitter Inborn genetic diseases ⚠
p.Asp264Asn Single submitter ⚠
p.Asp393Glu Single submitter Bethlem myopathy 1A ⚠
p.Asp418Gly Single submitter ⚠
p.Asp511Gly Single submitter ⚠
p.Asp554Val Single submitter Inborn genetic diseases ⚠
p.Asp557Glu Single submitter Bethlem myopathy 1A ⚠
p.Asp60Tyr Single submitter Bethlem myopathy 1A ⚠
p.Asp615Glu Single submitter Inborn genetic diseases ⚠
p.Asp636Asn Single submitter ⚠
p.Asp643Asn Single submitter Inborn genetic diseases ⚠
p.Asp71Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp75Asn Single submitter Inborn genetic diseases ⚠
p.Asp75Glu Single submitter Bethlem myopathy 1A ⚠
p.Asp75His Single submitter Bethlem myopathy 1A ⚠
p.Asp767Glu Single submitter Inborn genetic diseases ⚠
p.Asp912Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp915Ala Single submitter Inborn genetic diseases ⚠
p.Asp915fs Single submitter Bethlem myopathy 1A
p.Cys15Arg Single submitter ⚠
p.Cys15Phe Single submitter Bethlem myopathy 1A ⚠
p.Cys606Ser Single submitter Bethlem myopathy 1A ⚠
p.Cys607Arg Single submitter Bethlem myopathy 1A ⚠
p.Gln298His Single submitter Bethlem myopathy 1A ⚠
p.Gln298Lys Single submitter ⚠
p.Gln32= Single submitter Bethlem myopathy 1A
p.Gln32His Single submitter Bethlem myopathy 1A ⚠
p.Gln451Leu Single submitter Bethlem myopathy 1A ⚠
p.Gln451Lys Single submitter Bethlem myopathy 1A ⚠
p.Gln580Arg Single submitter Bethlem myopathy 1A ⚠
p.Gln664Arg Single submitter Bethlem myopathy 1A ⚠
p.Gln664Pro Single submitter Bethlem myopathy 1A ⚠
p.Gln671Leu Single submitter Bethlem myopathy 1A ⚠
p.Gln735_Thr738dup Single submitter Bethlem myopathy 1A
p.Gln750= Single submitter Ullrich congenital muscular dystrophy 1A
p.Gln750His Single submitter Bethlem myopathy 1A ⚠