Sugi Variant

Sugi Variant/DMD

DMD — 9430 ClinVar variants

All ClinVar germline DMD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2348 flagged for review →

1473 Pathogenic · 144 Pathogenic/Likely pathogenic · 398 Likely pathogenic · 688 Conflicting · 465 Benign · 149 Benign/Likely benign · 2950 Likely benign · 3163 Uncertain significance

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

⚑ Evidence disagreements 2348

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 10

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

Predictors agree, ClinVar conflicts 359

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 359

Predicted LoF vs a conflicting call 9

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 1762

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 1762

Predictors split 208

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 208

All DMD variants

Pathogenic 1473

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

  • c.10086+1G>A Multiple submitters dilated cardiomyopathy 3B
  • c.10086+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.10086+2T>C Multiple submitters Duchenne muscular dystrophy
  • c.10223+1G>A Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.10223+1G>C Multiple submitters Duchenne muscular dystrophy
  • c.10224-1dup Multiple submitters Duchenne muscular dystrophy
  • c.10797+1G>A Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.1150-1G>A Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.1150-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.1332-9A>G Multiple submitters Duchenne muscular dystrophy
  • c.1482+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.1483-1G>C Multiple submitters Duchenne muscular dystrophy
  • c.1603-2A>T Multiple submitters dilated cardiomyopathy 3B
  • c.1704+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.1704+1G>T Multiple submitters Becker muscular dystrophy
  • c.1812+1G>T Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.1812+2T>A Multiple submitters Duchenne muscular dystrophy
  • c.186+2T>A Multiple submitters Duchenne muscular dystrophy
  • c.2168+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.2293-2A>G Multiple submitters DMD-related disorder
  • c.2380+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.2380+1G>C Multiple submitters Duchenne muscular dystrophy
  • c.2622+1G>A Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.2622+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.2623-2A>G Multiple submitters dilated cardiomyopathy 3B
  • c.264+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.265-1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.2803+1G>C Multiple submitters
  • c.2803+1G>T Multiple submitters Acute rhabdomyolysis
  • c.2804-1del Multiple submitters Abnormality of the musculature
  • c.2804-1G>A Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.2804-1G>C Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.2804-1G>T Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.2804-2A>T Multiple submitters Duchenne muscular dystrophy
  • c.2949+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.2950-2A>T Multiple submitters Duchenne muscular dystrophy
  • c.31+1G>C Multiple submitters Cardiovascular phenotype
  • c.31+1G>T Multiple submitters Cardiovascular phenotype
  • c.3276+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.3432+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.3433-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.3433-5_3434del Multiple submitters Duchenne muscular dystrophy
  • c.357+1G>T Multiple submitters Cardiovascular phenotype
  • c.358-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.358-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.3603+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.3603+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.3603+2dup Multiple submitters Becker muscular dystrophy
  • c.3603+2T>A Multiple submitters Duchenne muscular dystrophy
  • c.3603+3A>T Multiple submitters Duchenne muscular dystrophy
  • c.4071+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.4071+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.4518+1G>T Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.4518+5G>A Multiple submitters Duchenne muscular dystrophy
  • c.4519-2_4523del Multiple submitters Becker muscular dystrophy
  • c.4675-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.531-1G>C Multiple submitters Duchenne muscular dystrophy
  • c.5739+362A>G Multiple submitters
  • c.5740-1G>T Multiple submitters Becker muscular dystrophy
  • c.6290+1G>C Multiple submitters
  • c.6290+3076A>G Multiple submitters Duchenne muscular dystrophy
  • c.6438+1_6438+5del Multiple submitters
  • c.649+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.6614+2T>C Multiple submitters Duchenne muscular dystrophy
  • c.6615-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.7309+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.7310-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.7542+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.7660+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.7661-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.8027+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.8218-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.831+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.8390+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.8668+1G>A Multiple submitters Becker muscular dystrophy
  • c.8669-1G>C Multiple submitters Duchenne muscular dystrophy
  • c.9224+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.93+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.93+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.9563+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.961-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.961-5831C>T Multiple submitters Becker muscular dystrophy
  • c.9649+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.9649+5G>A Multiple submitters Duchenne muscular dystrophy
  • c.9807+1G>C Multiple submitters Duchenne muscular dystrophy
  • c.9808-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.9975-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.9975-2A>C Multiple submitters Duchenne muscular dystrophy
  • p.Ala1872fs Multiple submitters progressive muscular dystrophy
  • p.Ala192fs Multiple submitters Becker muscular dystrophy
  • p.Ala324fs Multiple submitters Duchenne muscular dystrophy
  • p.Ala765fs Multiple submitters Duchenne muscular dystrophy
  • p.Arg1051Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg1314Ter Multiple submitters Cardiovascular phenotype
  • p.Arg1459Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Arg145Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg1577Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg1666Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg1763Ter Multiple submitters dilated cardiomyopathy 3B
  • p.Arg1844Ter Multiple submitters Becker muscular dystrophy
  • p.Arg1865fs Multiple submitters Duchenne muscular dystrophy
  • p.Arg1868Ter Multiple submitters Duchenne muscular dystrophy
  • p.Arg195Ter Multiple submitters Becker muscular dystrophy
  • p.Arg1967Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg2095Ter Multiple submitters Duchenne muscular dystrophy
  • p.Arg2098Ter Multiple submitters X-linked DMD-related disorders
  • p.Arg2553Ter Multiple submitters Duchenne muscular dystrophy
  • p.Arg2680Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg2689fs Multiple submitters Duchenne muscular dystrophy
  • p.Arg2870Ter Multiple submitters DMD-related disorder
  • p.Arg2905Ter Multiple submitters Becker muscular dystrophy
  • p.Arg2982Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg3034Ter Multiple submitters Cardiovascular phenotype
  • p.Arg3113Ter Multiple submitters Duchenne muscular dystrophy
  • p.Arg3190Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg3345Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg3370Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg3381Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg3391Ter Multiple submitters Cardiovascular phenotype
  • p.Arg539Ter Multiple submitters dilated cardiomyopathy 3B
  • p.Arg70Ter Multiple submitters Becker muscular dystrophy
  • p.Arg768Ter Multiple submitters progressive muscular dystrophy
  • p.Arg889Ter Multiple submitters dilated cardiomyopathy 3B
  • p.Asn1820fs Multiple submitters Duchenne muscular dystrophy
  • p.Asn2641fs Multiple submitters
  • p.Asn2991fs Multiple submitters Duchenne muscular dystrophy
  • p.Asn3068fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Asn3184fs Multiple submitters Duchenne muscular dystrophy
  • p.Asn3456fs Multiple submitters Duchenne muscular dystrophy
  • p.Asn837fs Multiple submitters Duchenne muscular dystrophy
  • p.Asp1894fs Multiple submitters
  • p.Asp2043fs Multiple submitters Duchenne muscular dystrophy
  • p.Asp2219fs Multiple submitters Duchenne muscular dystrophy
  • p.Cys1258Ter Multiple submitters Duchenne muscular dystrophy
  • p.Cys433fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln1035Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln1041Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1087Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1099Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1143Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1163Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1194Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln119fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln119Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1208Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1227Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1233Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1248Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1328Ter Multiple submitters Becker muscular dystrophy
  • p.Gln132Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln133Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1373Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1392Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1411Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1414Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1432fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln1438Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1443Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1469Ter Multiple submitters Becker muscular dystrophy
  • p.Gln1472Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1495Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1499Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1531Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1534Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln153Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1565Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1624Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1678Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1686Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1711Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln1756Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1785Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1791Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1803Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln1851Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1852Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1855Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1881Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1885Ter Multiple submitters Becker muscular dystrophy
  • p.Gln189Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1920Ter Multiple submitters Cardiovascular phenotype
  • p.Gln1951Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln1973Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2009Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln206Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2084Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2125Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2131fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln2182Ter Multiple submitters Cardiovascular phenotype
  • p.Gln2319Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2356Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2359Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln237fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln2387Ter Multiple submitters Duchenne and Becker muscular dystrophy
  • p.Gln2397Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2418Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln242Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln249Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2569Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2632Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2693Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2716Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln271Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2806Ter Multiple submitters Cardiovascular phenotype
  • p.Gln2815Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln2831Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2876Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2886Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln2940fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln2972fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln2972Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3001Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3050Ter Multiple submitters Cardiovascular phenotype
  • p.Gln320Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln3243Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3247Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3310Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3427Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln3493Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3589Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln35Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln363Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln365Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln401Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln421Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln423Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln442Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln45Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln489Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln497Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln504Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln532Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln555Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln60Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln615Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln625Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln638Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln656Ter Multiple submitters Becker muscular dystrophy
  • p.Gln664Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln673Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln678Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln700Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln743Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln778Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln785Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln790Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln803Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln807Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln838Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln844Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln884Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln902Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln920Ter Multiple submitters DMD-related disorder
  • p.Gln933Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln956Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln957Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln986Ter Multiple submitters
  • p.Gln990Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln992Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1005Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1073Ter Multiple submitters
  • p.Glu1074Ter Multiple submitters Cardiovascular phenotype
  • p.Glu1122fs Multiple submitters Duchenne muscular dystrophy
  • p.Glu1171Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1179Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1182Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1186Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1353Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Glu1384Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Glu1536Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1540Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1704Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1714fs Multiple submitters Duchenne muscular dystrophy
  • p.Glu1714Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1782Ter Multiple submitters Cardiovascular phenotype
  • p.Glu1784Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1810Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Glu1821Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Glu1924fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Glu1925Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Glu197Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1980Ter Multiple submitters
  • p.Glu2122fs Multiple submitters Duchenne muscular dystrophy
  • p.Glu2369Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu2591Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu2733Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu2827Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu2859Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu287Ter Multiple submitters Cardiovascular phenotype
  • p.Glu2894Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu2934Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu3212fs Multiple submitters Duchenne muscular dystrophy
  • p.Glu3212Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu3288Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu336Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu3499_Ser3500insTer Multiple submitters Duchenne muscular dystrophy
  • p.Glu3516Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Glu417Ter Multiple submitters
  • p.Glu5fs Multiple submitters Becker muscular dystrophy
  • p.Glu659Ter Multiple submitters Duchenne muscular dystrophy

Pathogenic/Likely pathogenic 144

  • c.10087-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.10554-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.10797+5G>A Multiple submitters Duchenne muscular dystrophy
  • c.1602+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.1603-2A>C Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.1705-1G>T Multiple submitters Duchenne muscular dystrophy
  • c.1705-2A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.1812+1G>A Multiple submitters Dilated and arrhythmogenic cardiomyopathy
  • c.2168+2T>C Multiple submitters progressive muscular dystrophy
  • c.2381-1G>T Multiple submitters Duchenne muscular dystrophy
  • c.2623-1G>T Multiple submitters
  • c.2623-3C>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.2804-2A>C Multiple submitters Cardiovascular phenotype
  • c.2949+2T>C Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.31+36947G>A Multiple submitters Cardiovascular phenotype
  • c.3162+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.3276+1G>C Multiple submitters Duchenne muscular dystrophy
  • c.3276+2del Multiple submitters
  • c.3432+2036A>G Multiple submitters Cardiovascular phenotype
  • c.3432+3A>G Multiple submitters Duchenne muscular dystrophy
  • c.4675-11A>G Multiple submitters Duchenne muscular dystrophy
  • c.5026-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.5448+67A>G Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.5586+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.5739+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.6118-1G>C Multiple submitters Duchenne muscular dystrophy
  • c.650-39498A>G Multiple submitters Duchenne muscular dystrophy
  • c.7309+1G>C Multiple submitters Duchenne muscular dystrophy
  • c.7309+2T>G Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.7660+1G>C Multiple submitters Duchenne muscular dystrophy
  • c.7872+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.8027+2T>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.8391-1_8391delinsAA Multiple submitters dilated cardiomyopathy 3B
  • c.8391-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.9225-285A>G Multiple submitters Becker muscular dystrophy
  • c.9225-2A>T Multiple submitters Duchenne muscular dystrophy
  • c.9225-647A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.93+2T>A Multiple submitters Duchenne muscular dystrophy
  • c.9361+1G>A Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.9361+1G>C Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.9361+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.9362-1215A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.9563+1215A>G Multiple submitters Duchenne muscular dystrophy
  • c.9564-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.9564-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.9808-2A>G Multiple submitters Becker muscular dystrophy
  • c.9974+175T>A Multiple submitters Duchenne muscular dystrophy
  • p.Ala3522fs Multiple submitters Duchenne muscular dystrophy
  • p.Ala437Gly Multiple submitters Duchenne muscular dystrophy ⚠
  • p.Arg145Pro Multiple submitters DMD-related muscular dystrophy
  • p.Arg1562fs Multiple submitters dilated cardiomyopathy 3B
  • p.Arg1910fs Multiple submitters Duchenne muscular dystrophy
  • p.Arg2205fs Multiple submitters dilated cardiomyopathy 3B
  • p.Arg2790fs Multiple submitters Duchenne muscular dystrophy
  • p.Arg295Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Arg3384fs Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg822fs Multiple submitters Duchenne muscular dystrophy
  • p.Arg978fs Multiple submitters Duchenne muscular dystrophy
  • p.Asn3378fs Multiple submitters Duchenne muscular dystrophy
  • p.Asn428fs Multiple submitters Duchenne muscular dystrophy
  • p.Asp1307fs Multiple submitters Duchenne muscular dystrophy
  • p.Asp15fs Multiple submitters Duchenne muscular dystrophy
  • p.Asp3187Gly Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Asp377fs Multiple submitters
  • p.Asp451Tyr Multiple submitters Becker muscular dystrophy ⚠
  • p.Asp652fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Cys3153fs Multiple submitters Duchenne muscular dystrophy
  • p.Cys433Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Cys816fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln1054Ter Multiple submitters progressive muscular dystrophy
  • p.Gln1501fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gln1697Ter Multiple submitters
  • p.Gln1932Ter Multiple submitters progressive muscular dystrophy
  • p.Gln2046Ter Multiple submitters Cardiovascular phenotype
  • p.Gln303Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3477Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3530Ter Multiple submitters
  • p.Gln3585Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gln3601fs Multiple submitters Duchenne muscular dystrophy
  • p.Gln423_Met424insTer Multiple submitters
  • p.Gln829Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1120Ter Multiple submitters Abnormality of the musculature
  • p.Glu1133fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Glu1284Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1480Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu1795Ter Multiple submitters progressive muscular dystrophy
  • p.Glu1826Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu2733fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Glu2941Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu3032Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu3367del Multiple submitters Duchenne muscular dystrophy
  • p.Glu3502fs Multiple submitters
  • p.Glu359Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu459Ter Multiple submitters Duchenne muscular dystrophy
  • p.Glu501Ter Multiple submitters progressive muscular dystrophy
  • p.Glu531Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gly130Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gly1334Ter Multiple submitters Duchenne muscular dystrophy
  • p.Gly1635Ter Multiple submitters Duchenne muscular dystrophy
  • p.Ile813fs Multiple submitters Duchenne muscular dystrophy
  • p.Leu1424Ter Multiple submitters Duchenne muscular dystrophy
  • p.Leu1512fs Multiple submitters Duchenne muscular dystrophy
  • p.Leu1702fs Multiple submitters Duchenne muscular dystrophy
  • p.Leu207Ter Multiple submitters Duchenne muscular dystrophy
  • p.Leu2416Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Leu2866fs Multiple submitters Duchenne muscular dystrophy
  • p.Leu3005Ter Multiple submitters progressive muscular dystrophy
  • p.Lys105Ter Multiple submitters Cardiovascular phenotype
  • p.Lys1062Ter Multiple submitters progressive muscular dystrophy
  • p.Lys1153Ter Multiple submitters progressive muscular dystrophy
  • p.Lys1238fs Multiple submitters Duchenne muscular dystrophy
  • p.Lys1363fs Multiple submitters Duchenne muscular dystrophy
  • p.Lys1449Ter Multiple submitters progressive muscular dystrophy
  • p.Lys211Ter Multiple submitters Duchenne muscular dystrophy
  • p.Lys226del Multiple submitters Becker muscular dystrophy
  • p.Lys2736Ter Multiple submitters progressive muscular dystrophy
  • p.Lys2989Ter Multiple submitters progressive muscular dystrophy
  • p.Lys534= Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Lys613Ter Multiple submitters progressive muscular dystrophy
  • p.Lys632Ter Multiple submitters Duchenne muscular dystrophy
  • p.Lys66Ter Multiple submitters Duchenne muscular dystrophy
  • p.Met1313_Arg1314delinsIleTer Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Phe3386fs Multiple submitters Cardiovascular phenotype
  • p.Pro2357fs Multiple submitters
  • p.Pro3296fs Multiple submitters Duchenne muscular dystrophy
  • p.Ser3104Ter Multiple submitters progressive muscular dystrophy
  • p.Ser329Ter Multiple submitters progressive muscular dystrophy
  • p.Ser413fs Multiple submitters Duchenne muscular dystrophy
  • p.Thr161del Multiple submitters Duchenne muscular dystrophy
  • p.Thr1981fs Multiple submitters
  • p.Thr2432fs Multiple submitters
  • p.Thr2551fs Multiple submitters Duchenne muscular dystrophy
  • p.Trp118Ter Multiple submitters Duchenne muscular dystrophy
  • p.Trp1265Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Trp24Ter Multiple submitters Becker muscular dystrophy
  • p.Trp551Ter Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Tyr231fs Multiple submitters Duchenne muscular dystrophy
  • p.Tyr2354Ter Multiple submitters Duchenne muscular dystrophy
  • p.Tyr2390Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Tyr3334fs Multiple submitters Duchenne muscular dystrophy
  • p.Tyr3475Ter Multiple submitters Duchenne muscular dystrophy
  • p.Val1214fs Multiple submitters
  • p.Val2159fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Val516fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Likely pathogenic 398

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

  • c.10224-2A>G Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.10921+2T>C Multiple submitters Becker muscular dystrophy
  • c.1812+5G>A Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.1993-1G>A Multiple submitters Duchenne muscular dystrophy
  • c.1993-2A>G Multiple submitters Duchenne muscular dystrophy
  • c.2292+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.3163-1G>T Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.3787-107A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.3787-2A>G Multiple submitters Becker muscular dystrophy
  • c.4519-5C>G Multiple submitters Duchenne muscular dystrophy
  • c.4846-1G>C Multiple submitters Becker muscular dystrophy
  • c.5448+1G>A Multiple submitters Becker muscular dystrophy
  • c.5448+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.5586+1G>A Multiple submitters Duchenne muscular dystrophy
  • c.5922+1G>T Multiple submitters Duchenne muscular dystrophy
  • c.6117+1G>T Multiple submitters Becker muscular dystrophy
  • c.6614+3310G>T Multiple submitters Duchenne muscular dystrophy
  • c.6763-2A>G Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.6912+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.6912+1G>T Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.8218-1G>C Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.832-1G>T Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.832-2A>C Multiple submitters Duchenne muscular dystrophy
  • c.8391-305A>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.8548-2_8549dup Multiple submitters
  • c.9163+2510G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.9224+5G>A Multiple submitters Duchenne muscular dystrophy
  • c.960+1G>A Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.960+1G>T Multiple submitters Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.960+2T>G Multiple submitters Duchenne muscular dystrophy
  • c.961-2A>C Multiple submitters Duchenne muscular dystrophy
  • c.9649+2dup Multiple submitters Duchenne muscular dystrophy
  • c.9650-4_9655del Multiple submitters Duchenne muscular dystrophy
  • p.Arg2797Lys Multiple submitters Duchenne muscular dystrophy ⚠
  • p.Asp1815Gly Multiple submitters Duchenne muscular dystrophy ⚠
  • p.Gln1144= Multiple submitters Cardiovascular phenotype
  • p.Gln277His Multiple submitters Duchenne muscular dystrophy ⚠
  • p.Gly2097Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin ⚠
  • p.His1858fs Multiple submitters Duchenne muscular dystrophy
  • p.Lys1843fs Multiple submitters
  • p.Lys874Asn Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dystrophin ⚠
  • p.Thr467fs Multiple submitters Duchenne muscular dystrophy
  • c.10087-1G>T Single submitter
  • c.10223+3G>C Single submitter Duchenne muscular dystrophy
  • c.10224-1G>C Single submitter Duchenne muscular dystrophy
  • c.10224-2_10233delinsTG Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.10224-6_10249delinsACT Single submitter Duchenne muscular dystrophy
  • c.10225_10229delCCCGT Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.10263-1_10263dup Single submitter
  • c.10554-1G>A Single submitter Becker muscular dystrophy
  • c.10554-1G>C Single submitter Duchenne muscular dystrophy
  • c.10554-2996T>G Single submitter Becker muscular dystrophy
  • c.11046+2T>C Single submitter Becker muscular dystrophy
  • c.1149+1G>T Single submitter Duchenne muscular dystrophy
  • c.1149+250C>T Single submitter Duchenne muscular dystrophy
  • c.1150-3C>G Single submitter Becker muscular dystrophy
  • c.1152del Single submitter
  • c.1304_1331+10del Single submitter
  • c.1483-1534_1565del Single submitter Cardiovascular phenotype
  • c.1483-1G>A Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.1603-1G>A Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.1704+2T>C Single submitter Becker muscular dystrophy
  • c.1813-29_1813-2del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.1813-3_1819del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.1813-733A>G Single submitter Becker muscular dystrophy
  • c.1992+1G>A Single submitter
  • c.1993-2A>T Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.2168+1G>T Single submitter Duchenne muscular dystrophy
  • c.2278_2292+101delinsTGATAAA Single submitter Duchenne muscular dystrophy
  • c.(2292+1_2293-1 Single submitter Becker muscular dystrophy
  • c.2292+1024G>T Single submitter
  • c.2292+1G>T Single submitter dilated cardiomyopathy 3B
  • c.2292+2T>G Single submitter Duchenne muscular dystrophy
  • c.2293-144_2339del Single submitter Duchenne muscular dystrophy
  • c.2622+2T>G Single submitter Duchenne muscular dystrophy
  • c.265-513C>T Single submitter Becker muscular dystrophy
  • c.2803+5G>C Single submitter Duchenne muscular dystrophy
  • c.2843+6256_2843+6260dup Single submitter Duchenne muscular dystrophy
  • c.31+36938T>A Single submitter
  • c.31+7A>T Single submitter dilated cardiomyopathy 3B
  • c.31+84433C>G Single submitter
  • c.32-2A>C Single submitter
  • c.3414_3432+3del Single submitter Duchenne muscular dystrophy
  • c.3432+2240A>G Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.(357+1_358-1 Single submitter Cardiovascular phenotype
  • c.357+1G>A Single submitter muscular dystrophy
  • c.358-551_369delinsTTCTTTTCAGTTCAGCCAATAAATATAGCTTGCGTTAAATGATGGTATGAAATGATGGT Single submitter Duchenne muscular dystrophy
  • c.3603+2053G>C Single submitter Duchenne muscular dystrophy
  • c.3603+2del Single submitter
  • c.3786+2T>A Single submitter Duchenne muscular dystrophy
  • c.3921+2T>C Single submitter Duchenne muscular dystrophy
  • c.3922-1G>A Single submitter Duchenne muscular dystrophy
  • c.4072-1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.4072-1G>T Single submitter Duchenne muscular dystrophy
  • c.4233+1G>C Single submitter Becker muscular dystrophy
  • c.4234-2A>G Single submitter Duchenne muscular dystrophy
  • c.4344+1G>A Single submitter Duchenne muscular dystrophy
  • c.4345-1_4355del Single submitter Duchenne muscular dystrophy
  • c.4345-1G>C Single submitter Duchenne muscular dystrophy
  • c.4519-1G>T Single submitter
  • c.4846-1469A>G Single submitter
  • c.4846-1G>T Single submitter Duchenne muscular dystrophy
  • c.5008_5025+7del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.5025+1del Single submitter Duchenne muscular dystrophy
  • c.5154+2T>C Single submitter Duchenne muscular dystrophy
  • c.5155-1G>C Single submitter Duchenne muscular dystrophy
  • c.5155-1G>T Single submitter Duchenne muscular dystrophy
  • c.530+1G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.531-2A>C Single submitter Becker muscular dystrophy
  • c.5326-5219T>G Single submitter Becker muscular dystrophy
  • c.5449-1159A>G Single submitter
  • c.5449-1G>A Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.5449-1G>T Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.5449-2A>T Single submitter Elevated circulating creatine kinase activity
  • c.5738_5739+4del Single submitter Duchenne muscular dystrophy
  • c.5922+4A>G Single submitter
  • c.6290+5G>T Single submitter Duchenne muscular dystrophy
  • c.6291-13537A>G Single submitter Becker muscular dystrophy
  • c.6291-1G>T Single submitter progressive muscular dystrophy
  • c.6439-1_6439delinsAA Single submitter Duchenne muscular dystrophy
  • c.6439-10_8217+32103dup Single submitter Duchenne muscular dystrophy
  • c.649+5G>A Single submitter Duchenne muscular dystrophy
  • c.650-1_650delinsTT Single submitter Duchenne muscular dystrophy
  • c.650-1G>A Single submitter Duchenne muscular dystrophy
  • c.650-1G>T Single submitter Duchenne muscular dystrophy
  • c.6614_6614+9del Single submitter Duchenne muscular dystrophy
  • c.6615-18_6617del Single submitter Duchenne muscular dystrophy
  • c.6913-11_6918del Single submitter Duchenne muscular dystrophy
  • c.7098+17031_7201-8188del Single submitter
  • c.7099-17240_7125del Single submitter Becker muscular dystrophy
  • c.7201-1G>C Single submitter Duchenne muscular dystrophy
  • c.7201-2A>G Single submitter Duchenne muscular dystrophy
  • c.7201-398_7215del Single submitter Duchenne muscular dystrophy
  • c.7309+12789_7490del Single submitter Duchenne muscular dystrophy
  • c.7348_7542+748delinsTCACCA Single submitter Duchenne muscular dystrophy
  • c.7543-1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.7543-2A>G Single submitter Duchenne muscular dystrophy
  • c.7661_8937dup Single submitter
  • c.7661-1G>T Single submitter
  • c.7873-1G>A Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.799_831+12del Single submitter Duchenne muscular dystrophy
  • c.8028-501_8078del Single submitter Duchenne muscular dystrophy
  • c.8217+18052A>G Single submitter
  • c.8217+32103G>T Single submitter
  • c.832-15A>G Single submitter Duchenne muscular dystrophy
  • c.832-1G>C Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.832-2A>G Single submitter Becker muscular dystrophy
  • c.8547+1del Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.8547+1G>A Single submitter Duchenne muscular dystrophy
  • c.8547+2T>C Single submitter Duchenne muscular dystrophy
  • c.8548-1_8549delinsAA Single submitter
  • c.8905_8937+7del Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • c.8937+1G>A Single submitter Duchenne muscular dystrophy
  • c.9084+2T>C Single submitter Duchenne muscular dystrophy
  • c.9085-15519G>T Single submitter Duchenne muscular dystrophy
  • c.9085-3579_9085-3566dup Single submitter Becker muscular dystrophy
  • c.9163+2T>A Single submitter Duchenne muscular dystrophy
  • c.9163+2T>C Single submitter Duchenne muscular dystrophy
  • c.9224+2T>A Single submitter Duchenne muscular dystrophy
  • c.9224+5G>C Single submitter Duchenne muscular dystrophy
  • c.9286+2T>G Single submitter Duchenne muscular dystrophy
  • c.9287-27_9287-2del Single submitter Duchenne muscular dystrophy
  • c.9361+1del Single submitter Duchenne muscular dystrophy
  • c.94-1del Single submitter Duchenne muscular dystrophy
  • c.94-3_94-2del Single submitter Duchenne muscular dystrophy
  • c.94-38_94del Single submitter
  • c.9563+5G>C Single submitter Duchenne muscular dystrophy
  • c.960+1del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • c.9807+2T>G Single submitter Duchenne muscular dystrophy
  • c.9807+5G>A Single submitter Duchenne muscular dystrophy
  • c.9974+1G>A Single submitter Cardiovascular phenotype
  • c.9974+1G>C Single submitter Elevated circulating creatine kinase activity
  • c.(?_-127963 Single submitter Cardiovascular phenotype
  • p.Ala1077fs Single submitter Duchenne muscular dystrophy
  • p.Ala171Pro Single submitter
  • p.Ala1743fs Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Ala1886fs Single submitter Duchenne muscular dystrophy
  • p.Ala27fs Single submitter
  • p.Ala283fs Single submitter Duchenne muscular dystrophy
  • p.Ala3270fs Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Ala3604fs Single submitter Duchenne muscular dystrophy
  • p.Ala913fs Single submitter Duchenne muscular dystrophy
  • p.Arg1544fs Single submitter Becker muscular dystrophy
  • p.Arg1844fs Single submitter Duchenne muscular dystrophy
  • p.Arg2205Met Single submitter Duchenne muscular dystrophy ⚠
  • p.Arg2523fs Single submitter Duchenne muscular dystrophy
  • p.Arg2600fs Single submitter
  • p.Arg2777Ter Single submitter progressive muscular dystrophy
  • p.Arg2853fs Single submitter Duchenne and Becker muscular dystrophy
  • p.Arg2951fs Single submitter Duchenne muscular dystrophy
  • p.Arg2982fs Single submitter Duchenne muscular dystrophy
  • p.Arg3113_Leu3115del Single submitter dilated cardiomyopathy 3B
  • p.Arg3286Ter Single submitter progressive muscular dystrophy
  • p.Arg3300fs Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Arg3325fs Single submitter Duchenne muscular dystrophy
  • p.Arg3345fs Single submitter Duchenne muscular dystrophy
  • p.Arg3370Pro Single submitter Duchenne muscular dystrophy
  • p.Arg3489fs Single submitter
  • p.Arg3630Ter Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Asn1135fs Single submitter Duchenne muscular dystrophy
  • p.Asn2019fs Single submitter Duchenne muscular dystrophy
  • p.Asp1888fs Single submitter Duchenne muscular dystrophy
  • p.Asp2364fs Single submitter Duchenne muscular dystrophy
  • p.Asp3097fs Single submitter
  • p.Asp327fs Single submitter Duchenne muscular dystrophy
  • p.Asp592fs Single submitter
  • p.Cys3178Ter Single submitter progressive muscular dystrophy
  • p.Cys3229fs Single submitter Becker muscular dystrophy
  • p.Cys3313Phe Single submitter Duchenne muscular dystrophy
  • p.Cys3319Ter Single submitter progressive muscular dystrophy
  • p.Cys3360Ter Single submitter Duchenne muscular dystrophy
  • p.Cys650Ter Single submitter Duchenne muscular dystrophy
  • p.Gln1113fs Single submitter Duchenne muscular dystrophy
  • p.Gln1144His Single submitter Cardiovascular phenotype
  • p.Gln1144Ter Single submitter Duchenne muscular dystrophy
  • p.Gln1408Ter Single submitter
  • p.Gln1448Ter Single submitter progressive muscular dystrophy
  • p.Gln1499fs Single submitter Duchenne muscular dystrophy
  • p.Gln1534fs Single submitter
  • p.Gln2625Ter Single submitter
  • p.Gln2760fs Single submitter Becker muscular dystrophy
  • p.Gln284fs Single submitter Duchenne muscular dystrophy
  • p.Gln2940Ter Single submitter X-linked DMD-related disorders
  • p.Gln303fs Single submitter
  • p.Gln3268Ter Single submitter Duchenne muscular dystrophy
  • p.Gln3427fs Single submitter Duchenne muscular dystrophy
  • p.Gln3473Ter Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln3567Ter Single submitter progressive muscular dystrophy
  • p.Gln601Ter Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Gln60fs Single submitter dilated cardiomyopathy 3B
  • p.Gln667Ter Single submitter Duchenne muscular dystrophy
  • p.Gln856Ter Single submitter Duchenne muscular dystrophy
  • p.Gln957Pro Single submitter Duchenne muscular dystrophy ⚠
  • p.Gln983Ter Single submitter Duchenne muscular dystrophy
  • p.Glu1013Ter Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Glu1171fs Single submitter Duchenne muscular dystrophy
  • p.Glu1211fs Single submitter Duchenne muscular dystrophy
  • p.Glu1276Ter Single submitter Becker muscular dystrophy
  • p.Glu1300Ter Single submitter progressive muscular dystrophy
  • p.Glu1310Ter Single submitter progressive muscular dystrophy
  • p.Glu1317Ter Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Glu1357fs Single submitter Duchenne muscular dystrophy
  • p.Glu1676Ter Single submitter progressive muscular dystrophy
  • p.Glu1960fs Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Glu1980fs Single submitter Duchenne muscular dystrophy
  • p.Glu2086fs Single submitter
  • p.Glu2327fs Single submitter
  • p.Glu2334Ter Single submitter Duchenne muscular dystrophy
  • p.Glu250fs Single submitter
  • p.Glu2757fs Single submitter Duchenne muscular dystrophy
  • p.Glu2801Ter Single submitter Duchenne muscular dystrophy
  • p.Glu2887Ter Single submitter progressive muscular dystrophy
  • p.Glu3162Ter Single submitter Duchenne muscular dystrophy
  • p.Glu3367Ter Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Glu3532Ter Single submitter Duchenne muscular dystrophy
  • p.Glu3603Ter Single submitter progressive muscular dystrophy
  • p.Glu469Ter Single submitter progressive muscular dystrophy
  • p.Glu475Ter Single submitter
  • p.Glu579Ter Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Glu789fs Single submitter Becker muscular dystrophy
  • p.Glu843fs Single submitter Duchenne muscular dystrophy
  • p.Glu876Ter Single submitter progressive muscular dystrophy
  • p.Glu899fs Single submitter Duchenne muscular dystrophy
  • p.Gly1298Ter Single submitter progressive muscular dystrophy
  • p.Gly2050fs Single submitter Duchenne muscular dystrophy
  • p.Gly2275Ter Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Gly3349fs Single submitter Duchenne muscular dystrophy
  • p.Gly397fs Single submitter Abnormality of the musculature
  • p.Ile1225fs Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Ile127fs Single submitter Duchenne muscular dystrophy
  • p.Ile173_His174insTer Single submitter Duchenne muscular dystrophy
  • p.Ile2055fs Single submitter Duchenne muscular dystrophy
  • p.Ile749fs Single submitter
  • p.Leu1036_Val1037insTer Single submitter
  • p.Leu1050fs Single submitter Duchenne muscular dystrophy
  • p.Leu108Pro Single submitter Duchenne muscular dystrophy
  • p.Leu1166_Ser1167insTer Single submitter Duchenne muscular dystrophy
  • p.Leu1275Ter Single submitter progressive muscular dystrophy
  • p.Leu1379Ter Single submitter Duchenne muscular dystrophy
  • p.Leu1485Ter Single submitter progressive muscular dystrophy
  • p.Leu1548Ter Single submitter Abnormality of the musculature
  • p.Leu1550Ter Single submitter progressive muscular dystrophy
  • p.Leu1572Ter Single submitter progressive muscular dystrophy
  • p.Leu1638Ter Single submitter Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
  • p.Leu1648Ter Single submitter progressive muscular dystrophy
  • p.Leu1671Ter Single submitter Duchenne muscular dystrophy
  • p.Leu169fs Single submitter Duchenne muscular dystrophy
  • p.Leu2185fs Single submitter
  • p.Leu2262fs Single submitter Duchenne muscular dystrophy
  • p.Leu268fs Single submitter Duchenne muscular dystrophy
  • p.Leu2766fs Single submitter Abnormality of the musculature
  • p.Leu3095Ter Single submitter progressive muscular dystrophy
  • p.Leu3121Ter Single submitter progressive muscular dystrophy
  • p.Leu3148fs Single submitter Duchenne muscular dystrophy
  • p.Leu3154Ter Single submitter neuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • p.Leu3248Ter Single submitter progressive muscular dystrophy
  • p.Leu3287fs Single submitter Becker muscular dystrophy
  • p.Leu3455_Asn3456insTer Single submitter
  • p.Leu3485fs Single submitter Abnormality of the musculature
  • p.Leu449Ter Single submitter progressive muscular dystrophy

Conflicting classifications of pathogenicity 688

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

Benign 465

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

Benign/Likely benign 149

  • c.10087-20C>T Multiple submitters Duchenne muscular dystrophy
  • c.10554-29_10554-20del Multiple submitters Becker muscular dystrophy
  • c.11015-6_11015-4del Multiple submitters Duchenne muscular dystrophy
  • c.11046+11T>C Multiple submitters Duchenne muscular dystrophy
  • c.1332-11C>T Multiple submitters Duchenne muscular dystrophy
  • c.1812+4T>C Multiple submitters Cardiovascular phenotype
  • c.1813-3C>A Multiple submitters Duchenne muscular dystrophy
  • c.2169-17A>C Multiple submitters Duchenne muscular dystrophy
  • c.2169-19_2169-18del Multiple submitters Duchenne muscular dystrophy
  • c.2292+9T>C Multiple submitters Duchenne muscular dystrophy
  • c.2293-15G>C Multiple submitters Duchenne muscular dystrophy
  • c.2380+10C>T Multiple submitters Duchenne muscular dystrophy
  • c.2381-3T>C Multiple submitters Cardiovascular phenotype
  • c.2623-9A>G Multiple submitters Duchenne muscular dystrophy
  • c.31+36946C>T Multiple submitters cardiomyopathy
  • c.3163-18T>C Multiple submitters Becker muscular dystrophy
  • c.3432+2036A>C Multiple submitters Duchenne muscular dystrophy
  • c.3603+3dup Multiple submitters Duchenne muscular dystrophy
  • c.3603+8A>G Multiple submitters Becker muscular dystrophy
  • c.4072-12C>T Multiple submitters Duchenne muscular dystrophy
  • c.4234-12T>C Multiple submitters Duchenne muscular dystrophy
  • c.4845+17T>C Multiple submitters Duchenne muscular dystrophy
  • c.5026-20T>A Multiple submitters Duchenne muscular dystrophy
  • c.5326-3del Multiple submitters Cardiovascular phenotype
  • c.6291-10T>C Multiple submitters dilated cardiomyopathy 3B
  • c.6614+8G>A Multiple submitters Duchenne muscular dystrophy
  • c.6912+12A>T Multiple submitters Duchenne muscular dystrophy
  • c.7310-36C>T Multiple submitters cardiomyopathy
  • c.7542+13A>G Multiple submitters Becker muscular dystrophy
  • c.7542+13dup Multiple submitters Duchenne muscular dystrophy
  • c.7543-17del Multiple submitters Duchenne muscular dystrophy
  • c.8027+13T>G Multiple submitters Duchenne muscular dystrophy
  • c.8027+18T>C Multiple submitters Duchenne muscular dystrophy
  • c.8027+7A>T Multiple submitters Duchenne muscular dystrophy
  • c.832-17C>A Multiple submitters Becker muscular dystrophy
  • c.832-18_832-17delinsGA Multiple submitters Duchenne muscular dystrophy
  • c.832-20C>T Multiple submitters Duchenne muscular dystrophy
  • c.832-3C>T Multiple submitters Cardiovascular phenotype
  • c.8390+18G>A Multiple submitters Duchenne muscular dystrophy
  • c.8391-18G>A Multiple submitters Duchenne muscular dystrophy
  • c.8547+18C>T Multiple submitters Duchenne muscular dystrophy
  • c.9225-645T>C Multiple submitters cardiomyopathy
  • c.93+5593T>A Multiple submitters cardiomyopathy
  • c.94-9del Multiple submitters Duchenne muscular dystrophy
  • c.94-9dup Multiple submitters Becker muscular dystrophy
  • c.94-9T>A Multiple submitters Duchenne muscular dystrophy
  • c.-419A>G Multiple submitters cardiomyopathy
  • p.Ala1212= Multiple submitters Cardiovascular phenotype
  • p.Ala1212Val Multiple submitters Cardiovascular phenotype
  • p.Ala3387Val Multiple submitters Duchenne muscular dystrophy
  • p.Ala3556= Multiple submitters Duchenne muscular dystrophy
  • p.Ala525= Multiple submitters Cardiovascular phenotype
  • p.Ala573Val Multiple submitters Cardiovascular phenotype
  • p.Ala581Val Multiple submitters Becker muscular dystrophy
  • p.Ala604= Multiple submitters Cardiovascular phenotype
  • p.Arg1324Cys Multiple submitters Cardiovascular phenotype
  • p.Arg1361Met Multiple submitters Duchenne muscular dystrophy
  • p.Arg1562Gly Multiple submitters Cardiovascular phenotype
  • p.Arg1745= Multiple submitters Cardiovascular phenotype
  • p.Arg2108Cys Multiple submitters Cardiovascular phenotype
  • p.Arg2155Trp Multiple submitters Cardiovascular phenotype
  • p.Arg2191Trp Multiple submitters Cardiovascular phenotype
  • p.Arg2415His Multiple submitters Cardiovascular phenotype
  • p.Arg2524His Multiple submitters dilated cardiomyopathy
  • p.Arg343His Multiple submitters Cardiovascular phenotype
  • p.Arg395Gln Multiple submitters Cardiovascular phenotype
  • p.Arg488Cys Multiple submitters Cardiovascular phenotype
  • p.Asn1672Lys Multiple submitters Cardiovascular phenotype
  • p.Asn2912Asp Multiple submitters Cardiovascular phenotype
  • p.Asn2919= Multiple submitters Cardiovascular phenotype
  • p.Asn797Lys Multiple submitters Cardiovascular phenotype
  • p.Asp1402= Multiple submitters Cardiovascular phenotype
  • p.Asp1908= Multiple submitters Cardiovascular phenotype
  • p.Asp2770Asn Multiple submitters Cardiovascular phenotype
  • p.Asp518Glu Multiple submitters Cardiovascular phenotype
  • p.Asp556Asn Multiple submitters Cardiovascular phenotype
  • p.Cys2024= Multiple submitters Cardiovascular phenotype
  • p.Gln1090= Multiple submitters Cardiovascular phenotype
  • p.Gln1829= Multiple submitters Cardiovascular phenotype
  • p.Gln2047Arg Multiple submitters Cardiovascular phenotype
  • p.Gln2154= Multiple submitters Duchenne muscular dystrophy
  • p.Gln2244His Multiple submitters Cardiovascular phenotype
  • p.Gln2491Arg Multiple submitters Cardiovascular phenotype
  • p.Gln3268= Multiple submitters Cardiovascular phenotype
  • p.Glu1038= Multiple submitters Cardiovascular phenotype
  • p.Glu1120= Multiple submitters Cardiovascular phenotype
  • p.Glu1636= Multiple submitters Duchenne muscular dystrophy
  • p.Glu1874Lys Multiple submitters Cardiovascular phenotype
  • p.Glu2910Val Multiple submitters Cardiovascular phenotype
  • p.Glu3162= Multiple submitters Cardiovascular phenotype
  • p.Glu501= Multiple submitters Cardiovascular phenotype
  • p.Glu659Lys Multiple submitters Duchenne muscular dystrophy
  • p.Glu991Gln Multiple submitters Cardiovascular phenotype
  • p.Gly1643= Multiple submitters Cardiovascular phenotype
  • p.Gly754Val Multiple submitters Cardiovascular phenotype
  • p.His2056= Multiple submitters Cardiovascular phenotype
  • p.His2138= Multiple submitters Cardiovascular phenotype
  • p.His2921= Multiple submitters Cardiovascular phenotype
  • p.His2921Arg Multiple submitters Cardiovascular phenotype
  • p.His3531= Multiple submitters Cardiovascular phenotype
  • p.Ile232Met Multiple submitters Cardiovascular phenotype
  • p.Ile694Phe Multiple submitters Duchenne muscular dystrophy
  • p.Ile935Ser Multiple submitters Cardiovascular phenotype
  • p.Leu1166Val Multiple submitters Cardiovascular phenotype
  • p.Leu2626Ser Multiple submitters Duchenne muscular dystrophy
  • p.Leu268= Multiple submitters Cardiovascular phenotype
  • p.Leu460= Multiple submitters Duchenne muscular dystrophy
  • p.Leu603= Multiple submitters Cardiovascular phenotype
  • p.Leu623= Multiple submitters Cardiovascular phenotype
  • p.Leu853= Multiple submitters Cardiovascular phenotype
  • p.Leu962Val Multiple submitters Cardiovascular phenotype
  • p.Leu982= Multiple submitters Cardiovascular phenotype
  • p.Lys1510Arg Multiple submitters Cardiovascular phenotype
  • p.Lys1721Asn Multiple submitters Cardiovascular phenotype
  • p.Lys226= Multiple submitters Cardiovascular phenotype
  • p.Met2466Thr Multiple submitters Cardiovascular phenotype
  • p.Met948Val Multiple submitters Cardiovascular phenotype
  • p.Phe1458Tyr Multiple submitters Cardiovascular phenotype
  • p.Phe3228Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Phe571Leu Multiple submitters Duchenne muscular dystrophy ⚠
  • p.Pro1320= Multiple submitters Duchenne muscular dystrophy
  • p.Pro1755= Multiple submitters Cardiovascular phenotype
  • p.Pro857Ser Multiple submitters Cardiovascular phenotype
  • p.Ser1007Leu Multiple submitters Cardiovascular phenotype
  • p.Ser2044= Multiple submitters Cardiovascular phenotype
  • p.Ser2048Asn Multiple submitters Cardiovascular phenotype
  • p.Ser2384Tyr Multiple submitters Cardiovascular phenotype
  • p.Ser2769= Multiple submitters Cardiovascular phenotype
  • p.Ser353= Multiple submitters Cardiovascular phenotype
  • p.Ser3612= Multiple submitters Cardiovascular phenotype
  • p.Ser963Cys Multiple submitters Cardiovascular phenotype
  • p.Thr1136Ser Multiple submitters Cardiovascular phenotype
  • p.Thr1647Met Multiple submitters Cardiovascular phenotype
  • p.Thr1683Ser Multiple submitters Cardiovascular phenotype
  • p.Thr2532= Multiple submitters Cardiovascular phenotype
  • p.Thr308Ile Multiple submitters Cardiovascular phenotype
  • p.Thr409Ser Multiple submitters Cardiovascular phenotype
  • p.Thr418Ser Multiple submitters Cardiovascular phenotype
  • p.Thr630Ala Multiple submitters Cardiovascular phenotype
  • p.Thr715Ser Multiple submitters Cardiovascular phenotype
  • p.Thr915= Multiple submitters Cardiovascular phenotype
  • p.Val1145Leu Multiple submitters Cardiovascular phenotype
  • p.Val1559= Multiple submitters Duchenne muscular dystrophy
  • p.Val1626Glu Multiple submitters Duchenne muscular dystrophy
  • p.Val1626Met Multiple submitters Cardiovascular phenotype
  • p.Val2279= Multiple submitters Cardiovascular phenotype
  • p.Val2365Ile Multiple submitters Duchenne muscular dystrophy
  • p.Val505Leu Multiple submitters Cardiovascular phenotype
  • p.Val796Ile Multiple submitters Cardiovascular phenotype

Likely benign 2950

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

  • c.10086+11C>T Multiple submitters Duchenne muscular dystrophy
  • c.10087-16A>G Multiple submitters Duchenne muscular dystrophy
  • c.10087-17C>T Multiple submitters Duchenne muscular dystrophy
  • c.10087-77G>C Multiple submitters
  • c.10224-4G>A Multiple submitters Cardiovascular phenotype
  • c.10224-5T>C Multiple submitters Duchenne muscular dystrophy
  • c.10797+42C>G Multiple submitters
  • c.11047-20dup Multiple submitters Duchenne muscular dystrophy
  • c.1149+16A>C Multiple submitters Duchenne muscular dystrophy
  • c.1331+26A>G Multiple submitters
  • c.1332-9A>C Multiple submitters Duchenne muscular dystrophy
  • c.1482+11C>T Multiple submitters Duchenne muscular dystrophy
  • c.1483-67A>T Multiple submitters
  • c.1602+108A>G Multiple submitters
  • c.1603-11C>T Multiple submitters Duchenne muscular dystrophy
  • c.1704+20C>T Multiple submitters Duchenne muscular dystrophy
  • c.1705-4G>T Multiple submitters Duchenne muscular dystrophy
  • c.1812+16C>T Multiple submitters Duchenne muscular dystrophy
  • c.1813-38A>C Multiple submitters
  • c.186+35A>T Multiple submitters
  • c.2169-18T>C Multiple submitters Duchenne muscular dystrophy
  • c.2380+47A>G Multiple submitters
  • c.2381-11T>A Multiple submitters Duchenne muscular dystrophy
  • c.2381-7T>G Multiple submitters Becker muscular dystrophy
  • c.2622+13T>A Multiple submitters Duchenne muscular dystrophy
  • c.2622+15T>A Multiple submitters Duchenne muscular dystrophy
  • c.264+10A>G Multiple submitters Duchenne muscular dystrophy
  • c.264+8G>A Multiple submitters Duchenne muscular dystrophy
  • c.2804-87A>C Multiple submitters
  • c.31+20A>G Multiple submitters Duchenne muscular dystrophy
  • c.31+83313T>C Multiple submitters
  • c.31+8C>T Multiple submitters Duchenne muscular dystrophy
  • c.3162+5T>C Multiple submitters Duchenne muscular dystrophy
  • c.3163-8C>T Multiple submitters Duchenne muscular dystrophy
  • c.3432+36C>T Multiple submitters
  • c.3432+8C>A Multiple submitters Duchenne muscular dystrophy
  • c.3433-20GTTT[2] Multiple submitters Duchenne muscular dystrophy
  • c.3604-14T>C Multiple submitters Duchenne muscular dystrophy
  • c.3921+18C>G Multiple submitters Duchenne muscular dystrophy
  • c.3921+7T>C Multiple submitters Duchenne muscular dystrophy
  • c.4519-12G>A Multiple submitters Duchenne muscular dystrophy
  • c.4675-53G>T Multiple submitters
  • c.4675-8C>G Multiple submitters Duchenne muscular dystrophy
  • c.4846-5C>T Multiple submitters Duchenne muscular dystrophy
  • c.5026-45T>C Multiple submitters
  • c.5026-8C>T Multiple submitters Duchenne muscular dystrophy
  • c.5155-19T>C Multiple submitters Duchenne muscular dystrophy
  • c.531-19_531-12del Multiple submitters Duchenne muscular dystrophy
  • c.5325+156A>G Multiple submitters
  • c.5326-54A>C Multiple submitters
  • c.5449-12_5449-10del Multiple submitters Duchenne muscular dystrophy
  • c.5586+52A>G Multiple submitters
  • c.5739+8T>C Multiple submitters Duchenne muscular dystrophy
  • c.5922+11A>C Multiple submitters Duchenne muscular dystrophy
  • c.5923-7A>G Multiple submitters Duchenne muscular dystrophy
  • c.6117+15C>T Multiple submitters Becker muscular dystrophy
  • c.6118-4A>G Multiple submitters Duchenne muscular dystrophy
  • c.6118-63A>T Multiple submitters
  • c.6290+10A>C Multiple submitters Duchenne muscular dystrophy
  • c.6291-20C>A Multiple submitters Duchenne muscular dystrophy
  • c.6291-20C>G Multiple submitters Duchenne muscular dystrophy
  • c.6438+11G>C Multiple submitters Duchenne muscular dystrophy
  • c.6439-38G>A Multiple submitters
  • c.6439-4A>G Multiple submitters Duchenne muscular dystrophy
  • c.6762+9A>C Multiple submitters Duchenne muscular dystrophy
  • c.6912+8A>G Multiple submitters Duchenne muscular dystrophy
  • c.7543-19G>A Multiple submitters Duchenne muscular dystrophy
  • c.7660+15A>G Multiple submitters Duchenne muscular dystrophy
  • c.7661-4C>T Multiple submitters Cardiovascular phenotype
  • c.7661-61T>A Multiple submitters
  • c.7873-6C>A Multiple submitters Duchenne muscular dystrophy
  • c.8028-114C>A Multiple submitters
  • c.831+10G>A Multiple submitters Duchenne muscular dystrophy
  • c.831+95A>T Multiple submitters
  • c.832-17C>T Multiple submitters Duchenne muscular dystrophy
  • c.832-44T>A Multiple submitters
  • c.832-54A>G Multiple submitters
  • c.8668+17C>A Multiple submitters Duchenne muscular dystrophy
  • c.8937+10A>C Multiple submitters Duchenne muscular dystrophy
  • c.8937+8C>G Multiple submitters Duchenne muscular dystrophy
  • c.9225-20_9225-17del Multiple submitters Duchenne muscular dystrophy
  • c.9225-5727G>A Multiple submitters
  • c.9225-5795G>A Multiple submitters
  • c.9225-5912C>T Multiple submitters
  • c.9286+151G>A Multiple submitters
  • c.9286+166A>T Multiple submitters
  • c.9287-4T>C Multiple submitters Cardiovascular phenotype
  • c.9563+7A>G Multiple submitters Duchenne muscular dystrophy
  • c.9564-4A>T Multiple submitters Duchenne muscular dystrophy
  • c.9564-6T>C Multiple submitters Duchenne muscular dystrophy
  • c.960+11A>G Multiple submitters Duchenne muscular dystrophy
  • c.9650-64C>T Multiple submitters
  • c.9975-6T>C Multiple submitters Duchenne muscular dystrophy
  • c.*479CA[6] Multiple submitters
  • c.*59C>A Multiple submitters cardiomyopathy
  • p.Ala1557= Multiple submitters Cardiovascular phenotype
  • p.Ala1588Ser Multiple submitters Cardiovascular phenotype
  • p.Ala1616Gly Multiple submitters Cardiovascular phenotype
  • p.Ala1662= Multiple submitters Cardiovascular phenotype
  • p.Ala1799= Multiple submitters Cardiovascular phenotype
  • p.Ala1941= Multiple submitters Cardiovascular phenotype
  • p.Ala2020Pro Multiple submitters Cardiovascular phenotype
  • p.Ala2164= Multiple submitters Duchenne muscular dystrophy
  • p.Ala2471= Multiple submitters Cardiovascular phenotype
  • p.Ala2534= Multiple submitters Duchenne muscular dystrophy
  • p.Ala2601= Multiple submitters Cardiovascular phenotype
  • p.Ala2644= Multiple submitters Cardiovascular phenotype
  • p.Ala2712= Multiple submitters Duchenne muscular dystrophy
  • p.Ala2747Gly Multiple submitters Duchenne muscular dystrophy
  • p.Ala3129= Multiple submitters Duchenne muscular dystrophy
  • p.Ala324= Multiple submitters Cardiovascular phenotype
  • p.Ala3278= Multiple submitters Cardiovascular phenotype
  • p.Ala3387= Multiple submitters Cardiovascular phenotype
  • p.Ala573= Multiple submitters Cardiovascular phenotype
  • p.Ala581= Multiple submitters Cardiovascular phenotype
  • p.Ala608= Multiple submitters Duchenne muscular dystrophy
  • p.Ala784= Multiple submitters Duchenne muscular dystrophy
  • p.Arg1028His Multiple submitters Duchenne muscular dystrophy
  • p.Arg1051Gln Multiple submitters Cardiovascular phenotype
  • p.Arg1352= Multiple submitters Duchenne muscular dystrophy
  • p.Arg1459= Multiple submitters Cardiovascular phenotype
  • p.Arg1666= Multiple submitters Duchenne muscular dystrophy
  • p.Arg1728= Multiple submitters Cardiovascular phenotype
  • p.Arg1728His Multiple submitters Cardiovascular phenotype
  • p.Arg1763= Multiple submitters Duchenne muscular dystrophy
  • p.Arg1957= Multiple submitters Cardiovascular phenotype
  • p.Arg1957Gln Multiple submitters Cardiovascular phenotype
  • p.Arg2095= Multiple submitters Duchenne muscular dystrophy
  • p.Arg2098Gln Multiple submitters Duchenne muscular dystrophy
  • p.Arg2107= Multiple submitters Duchenne muscular dystrophy
  • p.Arg2263His Multiple submitters Cardiovascular phenotype
  • p.Arg2477Gln Multiple submitters Cardiovascular phenotype
  • p.Arg256= Multiple submitters Duchenne muscular dystrophy
  • p.Arg2572= Multiple submitters Duchenne muscular dystrophy
  • p.Arg2720Cys Multiple submitters Duchenne muscular dystrophy
  • p.Arg2720His Multiple submitters Cardiovascular phenotype
  • p.Arg2723= Multiple submitters Cardiovascular phenotype
  • p.Arg2830= Multiple submitters Cardiovascular phenotype
  • p.Arg2927= Multiple submitters Cardiovascular phenotype
  • p.Arg3023= Multiple submitters Cardiovascular phenotype
  • p.Arg3036= Multiple submitters Cardiovascular phenotype
  • p.Arg3193= Multiple submitters Duchenne muscular dystrophy
  • p.Arg3327= Multiple submitters Cardiovascular phenotype
  • p.Arg3575= Multiple submitters Cardiovascular phenotype
  • p.Arg48= Multiple submitters Duchenne muscular dystrophy
  • p.Arg563= Multiple submitters Cardiovascular phenotype
  • p.Arg649Trp Multiple submitters Cardiovascular phenotype
  • p.Arg737= Multiple submitters Cardiovascular phenotype
  • p.Arg751= Multiple submitters Cardiovascular phenotype
  • p.Arg82= Multiple submitters Cardiovascular phenotype
  • p.Arg889= Multiple submitters Duchenne muscular dystrophy
  • p.Asn1117= Multiple submitters Duchenne muscular dystrophy
  • p.Asn1135= Multiple submitters Cardiovascular phenotype
  • p.Asn135= Multiple submitters Cardiovascular phenotype
  • p.Asn1806= Multiple submitters Cardiovascular phenotype
  • p.Asn1813= Multiple submitters Cardiovascular phenotype
  • p.Asn1813Ser Multiple submitters Cardiovascular phenotype
  • p.Asn1820Ser Multiple submitters Cardiovascular phenotype
  • p.Asn1833= Multiple submitters Duchenne muscular dystrophy
  • p.Asn1859= Multiple submitters Cardiovascular phenotype
  • p.Asn2221= Multiple submitters Duchenne muscular dystrophy
  • p.Asn2358= Multiple submitters Duchenne muscular dystrophy
  • p.Asn2636= Multiple submitters Duchenne muscular dystrophy
  • p.Asn2641= Multiple submitters Cardiovascular phenotype
  • p.Asn2783Ser Multiple submitters Cardiovascular phenotype
  • p.Asn2991Lys Multiple submitters Duchenne muscular dystrophy
  • p.Asn3170= Multiple submitters Duchenne muscular dystrophy
  • p.Asn3664= Multiple submitters Duchenne muscular dystrophy
  • p.Asn3665= Multiple submitters Duchenne muscular dystrophy
  • p.Asn461= Multiple submitters Cardiovascular phenotype
  • p.Asn542= Multiple submitters Cardiovascular phenotype
  • p.Asn653= Multiple submitters Cardiovascular phenotype
  • p.Asn851= Multiple submitters Cardiovascular phenotype
  • p.Asn86= Multiple submitters Duchenne muscular dystrophy
  • p.Asp1399= Multiple submitters Cardiovascular phenotype
  • p.Asp1685= Multiple submitters Cardiovascular phenotype
  • p.Asp1703= Multiple submitters Duchenne muscular dystrophy
  • p.Asp1726Gly Multiple submitters Cardiovascular phenotype
  • p.Asp2053= Multiple submitters Duchenne muscular dystrophy
  • p.Asp2364= Multiple submitters Cardiovascular phenotype
  • p.Asp2740= Multiple submitters Duchenne muscular dystrophy
  • p.Asp2837= Multiple submitters Cardiovascular phenotype
  • p.Asp3097= Multiple submitters Cardiovascular phenotype
  • p.Asp3230= Multiple submitters Cardiovascular phenotype
  • p.Asp3240= Multiple submitters Duchenne muscular dystrophy
  • p.Asp360= Multiple submitters Cardiovascular phenotype
  • p.Asp415Asn Multiple submitters Cardiovascular phenotype
  • p.Asp52= Multiple submitters Cardiovascular phenotype
  • p.Cys1569= Multiple submitters Cardiovascular phenotype
  • p.Cys3130= Multiple submitters Duchenne muscular dystrophy
  • p.Cys3130Gly Multiple submitters Duchenne muscular dystrophy
  • p.Cys3174= Multiple submitters Duchenne muscular dystrophy
  • p.Cys3207= Multiple submitters Cardiovascular phenotype
  • p.Cys3476= Multiple submitters Duchenne muscular dystrophy
  • p.Cys433= Multiple submitters Duchenne muscular dystrophy
  • p.Cys569= Multiple submitters Duchenne muscular dystrophy
  • p.Gln1035= Multiple submitters Cardiovascular phenotype
  • p.Gln132= Multiple submitters Duchenne muscular dystrophy
  • p.Gln1392= Multiple submitters Duchenne muscular dystrophy
  • p.Gln1432= Multiple submitters Cardiovascular phenotype
  • p.Gln1438= Multiple submitters Duchenne muscular dystrophy
  • p.Gln1564= Multiple submitters Duchenne muscular dystrophy
  • p.Gln1711= Multiple submitters Duchenne muscular dystrophy
  • p.Gln1835= Multiple submitters Duchenne muscular dystrophy
  • p.Gln194= Multiple submitters Duchenne muscular dystrophy
  • p.Gln2046= Multiple submitters Duchenne muscular dystrophy
  • p.Gln2131= Multiple submitters Duchenne muscular dystrophy
  • p.Gln2172= Multiple submitters Cardiovascular phenotype
  • p.Gln2574= Multiple submitters Cardiovascular phenotype
  • p.Gln2594Arg Multiple submitters Duchenne muscular dystrophy
  • p.Gln284= Multiple submitters Duchenne muscular dystrophy
  • p.Gln3338= Multiple submitters Duchenne muscular dystrophy
  • p.Gln455Glu Multiple submitters Cardiovascular phenotype
  • p.Gln491= Multiple submitters Cardiovascular phenotype
  • p.Gln491Arg Multiple submitters Duchenne muscular dystrophy
  • p.Gln492= Multiple submitters Cardiovascular phenotype
  • p.Gln497= Multiple submitters Cardiovascular phenotype
  • p.Gln673= Multiple submitters Duchenne muscular dystrophy
  • p.Gln693= Multiple submitters Cardiovascular phenotype
  • p.Gln817= Multiple submitters Cardiovascular phenotype
  • p.Gln841= Multiple submitters Cardiovascular phenotype
  • p.Glu1044= Multiple submitters Duchenne muscular dystrophy
  • p.Glu1082= Multiple submitters Cardiovascular phenotype
  • p.Glu1177= Multiple submitters Cardiovascular phenotype
  • p.Glu1263= Multiple submitters Cardiovascular phenotype
  • p.Glu1338= Multiple submitters Cardiovascular phenotype
  • p.Glu1818= Multiple submitters Cardiovascular phenotype
  • p.Glu1905= Multiple submitters Cardiovascular phenotype
  • p.Glu1925= Multiple submitters Duchenne muscular dystrophy
  • p.Glu1960= Multiple submitters Cardiovascular phenotype
  • p.Glu2335Lys Multiple submitters Duchenne muscular dystrophy
  • p.Glu2468= Multiple submitters Cardiovascular phenotype
  • p.Glu2591= Multiple submitters Duchenne muscular dystrophy
  • p.Glu2664= Multiple submitters Cardiovascular phenotype
  • p.Glu287= Multiple submitters Cardiovascular phenotype
  • p.Glu2875Gly Multiple submitters Cardiovascular phenotype
  • p.Glu2909= Multiple submitters Cardiovascular phenotype
  • p.Glu2910= Multiple submitters Duchenne muscular dystrophy
  • p.Glu2914= Multiple submitters Duchenne muscular dystrophy
  • p.Glu3032Lys Multiple submitters Duchenne muscular dystrophy
  • p.Glu326= Multiple submitters Cardiovascular phenotype
  • p.Glu336= Multiple submitters Cardiovascular phenotype
  • p.Glu548= Multiple submitters Cardiovascular phenotype
  • p.Glu595= Multiple submitters Duchenne muscular dystrophy
  • p.Glu692= Multiple submitters Cardiovascular phenotype
  • p.Glu789= Multiple submitters Duchenne muscular dystrophy
  • p.Glu814= Multiple submitters Cardiovascular phenotype
  • p.Glu843Val Multiple submitters Duchenne muscular dystrophy
  • p.Glu991= Multiple submitters Cardiovascular phenotype
  • p.Gly1112= Multiple submitters Duchenne muscular dystrophy
  • p.Gly1256= Multiple submitters Cardiovascular phenotype
  • p.Gly1297= Multiple submitters Duchenne muscular dystrophy
  • p.Gly1297Cys Multiple submitters Cardiovascular phenotype
  • p.Gly1333= Multiple submitters Cardiovascular phenotype
  • p.Gly1746= Multiple submitters Cardiovascular phenotype
  • p.Gly1940= Multiple submitters Duchenne muscular dystrophy
  • p.Gly2361= Multiple submitters Duchenne muscular dystrophy
  • p.Gly2964= Multiple submitters Cardiovascular phenotype
  • p.Gly3255= Multiple submitters Cardiovascular phenotype
  • p.Gly3393= Multiple submitters Cardiovascular phenotype
  • p.Gly3672= Multiple submitters Duchenne muscular dystrophy
  • p.Gly3677= Multiple submitters Cardiovascular phenotype
  • p.Gly394= Multiple submitters Cardiovascular phenotype
  • p.Gly403= Multiple submitters Duchenne muscular dystrophy
  • p.Gly59= Multiple submitters Cardiovascular phenotype
  • p.Gly795Val Multiple submitters Duchenne muscular dystrophy
  • p.Gly995= Multiple submitters Duchenne muscular dystrophy
  • p.His1140Leu Multiple submitters Duchenne muscular dystrophy
  • p.His1430= Multiple submitters Cardiovascular phenotype
  • p.His198= Multiple submitters Cardiovascular phenotype
  • p.His2674= Multiple submitters Duchenne muscular dystrophy
  • p.His2994= Multiple submitters Duchenne muscular dystrophy
  • p.His3076= Multiple submitters Duchenne muscular dystrophy
  • p.His3239= Multiple submitters Cardiovascular phenotype
  • p.His3430= Multiple submitters Cardiovascular phenotype
  • p.His3591= Multiple submitters Duchenne muscular dystrophy
  • p.His382= Multiple submitters Cardiovascular phenotype
  • p.His392= Multiple submitters Cardiovascular phenotype
  • p.His446= Multiple submitters Cardiovascular phenotype
  • p.His512= Multiple submitters Cardiovascular phenotype
  • p.His524= Multiple submitters Duchenne muscular dystrophy
  • p.Ile1083= Multiple submitters Duchenne muscular dystrophy
  • p.Ile111= Multiple submitters Duchenne muscular dystrophy
  • p.Ile1225= Multiple submitters Cardiovascular phenotype
  • p.Ile1340Met Multiple submitters Duchenne muscular dystrophy
  • p.Ile2004= Multiple submitters Duchenne muscular dystrophy
  • p.Ile2115Met Multiple submitters Cardiovascular phenotype
  • p.Ile245= Multiple submitters Duchenne muscular dystrophy
  • p.Ile2834= Multiple submitters Cardiovascular phenotype
  • p.Ile3147= Multiple submitters Duchenne muscular dystrophy
  • p.Ile3242= Multiple submitters Cardiovascular phenotype
  • p.Ile3276= Multiple submitters Duchenne muscular dystrophy
  • p.Ile368= Multiple submitters Cardiovascular phenotype
  • p.Ile749= Multiple submitters Cardiovascular phenotype
  • p.Ile833= Multiple submitters Duchenne muscular dystrophy
  • p.Ile872= Multiple submitters Cardiovascular phenotype
  • p.Ile99= Multiple submitters Cardiovascular phenotype
  • p.Leu1036= Multiple submitters Duchenne muscular dystrophy
  • p.Leu1275= Multiple submitters Cardiovascular phenotype
  • p.Leu1330= Multiple submitters Duchenne muscular dystrophy

Uncertain significance 3163

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