COL6A3 — 3824 ClinVar variants

All ClinVar germline COL6A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1204 flagged for review →

110 Pathogenic · 26 Pathogenic/Likely pathogenic · 65 Likely pathogenic · 650 Conflicting · 179 Benign · 75 Benign/Likely benign · 1029 Likely benign · 1690 Uncertain significance

Full COL6A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1204

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 1

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

COL6A3 p.Lys2103Arg Pathogenic Single submitter
Bethlem myopathy 1A

Predictors agree, ClinVar conflicts 216

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 216

COL6A3 p.Ala1111Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala1124Glu Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala1124Val Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Ala1617Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala184Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala1960Val Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala2208Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2208Thr Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Ala2256Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala2257Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala259Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala259Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2662Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2670Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala2714Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2915Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala2915Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2942Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2956Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2959Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2964Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2975Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala3050Thr Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Ala3163Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala3167Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala320Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala36Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala546Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala611Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala919Val Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ala991Val Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg1066Cys Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg1149Gln Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg1301Gln Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Arg1301Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1308Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1395Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1424His Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg1535Cys Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg1564Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1564His Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg1727Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1886His Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg1915Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1918His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1964Ser Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg1970His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1975His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1990Gln Conflicting Single submitter
COL6A3-related disorder
COL6A3 p.Arg1990Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg2420Gln Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg2549Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg2757Thr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg280Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg3011Met Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg3043Cys Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg336Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg341Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg363His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg406His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg474Gly Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg513Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg513Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg740His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg889His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg97His Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Asn1467Asp Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Asn2023Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Asn2452Lys Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Asn84Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp1063Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp1074Asn Conflicting Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Asp1589Asn Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp1848Glu Conflicting Single submitter
COL6A3-related disorder
COL6A3 p.Asp2372Asn Conflicting Single submitter
limb-girdle muscular dystrophy
COL6A3 p.Asp2615Asn Conflicting Single submitter
dystonia 27
COL6A3 p.Asp2615Tyr Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Asp2617Asn Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Asp288Asn Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Asp3021His Conflicting Single submitter
COL6A3-related disorder
COL6A3 p.Gln1745Arg Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Gln754Arg Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Glu1414Gln Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Glu1859Lys Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Glu1912Lys Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Glu2067Lys Conflicting Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Glu2720Lys Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Glu2968Ala Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Glu3002Gly Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Glu3149Lys Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Glu892Lys Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Gly1003Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly1245Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly139Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly1879Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly1957Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2044Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2056Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2071Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2098Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2143Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2214Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2231Val Conflicting Single submitter
COL6A3 p.Gly2267Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2273Ala Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Gly2297Ala Conflicting Single submitter
COL6A3-related disorder
COL6A3 p.Gly2347Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2392Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2419Ala Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2419Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly3016Arg Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Gly3170Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly478Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.His24Tyr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.His54Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ile1128Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ile1167Phe Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ile1781Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ile1869Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ile209Val Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ile2351Leu Conflicting Single submitter
dystonia 27
COL6A3 p.Ile244Val Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ile2899Val Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Ile3000Met Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Leu1223Pro Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Leu458Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Lys1001Glu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Lys2684Gln Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Met1610Val Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Met1992Thr Conflicting Single submitter
dystonia 27
COL6A3 p.Met2651Ile Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Met293Val Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Met3175Thr Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Met616Val Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Phe1852Ser Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Phe405Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro1000Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro1218Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro1355Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro1428Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro1498Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro1630Ser Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Pro1894Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro1894Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro1897Leu Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Pro1942Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro2748Leu Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Pro2876Ala Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro2876Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Pro2933Leu Conflicting Single submitter
Bethlem myopathy 1A

Predictors lean, ClinVar uncertain 714

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 714

COL6A3 p.Ala1020Gly Uncertain significance Multiple submitters
COL6A3 p.Ala1315Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala1356Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala1519Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala1617Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala1790Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala1864Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala1864Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Ala1965Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala2018Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala2257Ser Uncertain significance Multiple submitters
COL6A3-related disorder
COL6A3 p.Ala2643Ser Uncertain significance Multiple submitters
COL6A3-related disorder
COL6A3 p.Ala2665Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Ala2755Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Ala2908Gly Uncertain significance Multiple submitters
COL6A3 p.Ala2928Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala2957Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala2964Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Ala3027Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala325Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala383Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Ala383Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala528Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala830Thr Uncertain significance Multiple submitters
COL6A3 p.Arg1331Cys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg1535His Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg1564Gly Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg1591Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg1660His Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Arg1798Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Arg1975Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Arg1975Leu Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A3 p.Arg1984Gln Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2043Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Arg2073Cys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2307Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Arg2444Gln Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2444Trp Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2501Cys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2811Cys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2833Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg836Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg874Gln Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asn1792Asp Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asn2324Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Asn2475Lys Uncertain significance Multiple submitters
COL6A3 p.Asn2860Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asn584Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asp1239Asn Uncertain significance Multiple submitters
COL6A3-related disorder
COL6A3 p.Asp1278Asn Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A3 p.Asp1442Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asp1667Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Asp1943Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Asp2408Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Asp242Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asp2589Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asp2619Asn Uncertain significance Multiple submitters
COL6A3-related disorder
COL6A3 p.Asp395Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asp445Val Uncertain significance Multiple submitters
dystonia 27
COL6A3 p.Gln1682Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gln304Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Glu1607Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Glu1690Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Glu2327Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Glu3118Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Glu547Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Glu593Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly1158Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly1195Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly1229Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Gly1335Ala Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly139Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly1713Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly1845Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Gly1880Ala Uncertain significance Multiple submitters
dystonia 27
COL6A3 p.Gly2174Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Gly2177Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly2207Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly2276Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly2291Trp Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly2300Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly2344Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly2368Asp Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly3153Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly679Cys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly720Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly950Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Gly967Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.His3028Tyr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ile1563Met Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Ile2428Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ile2552Asn Uncertain significance Multiple submitters
COL6A3 p.Ile2557Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Ile2590Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ile2900Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ile353Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Ile641Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Ile671Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Leu1254Phe Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Leu1340Pro Uncertain significance Multiple submitters
COL6A3 p.Leu1693Pro Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Leu1739Met Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Leu2533Ile Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Leu2582Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Leu268Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Leu2760Val Uncertain significance Multiple submitters
COL6A3 p.Leu43Pro Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Leu900Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Leu941Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Lys1418Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Lys1418Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Lys166Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Lys3151Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Lys869Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Met1086Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Met1820Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Met2001Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Met2810Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Met293Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Phe1080Ile Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Phe1599Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Phe2493Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Phe2633Cys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Phe2795Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Phe3140Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro1023Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro1222Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Pro1224Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro2604Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Pro2882Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Pro2977Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro3083His Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro3083Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Pro3084Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro809Ser Uncertain significance Multiple submitters
COL6A3-related disorder
COL6A3 p.Ser1392Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ser1471Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ser1809Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ser1895Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ser2437Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ser2688Phe Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ser2992Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Thr1190Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Thr1412Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Thr1627Ile Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A3 p.Thr1926Met Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Thr2226Ile Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Thr231Asn Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Thr2520Ser Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A3 p.Thr2980Ile Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 273

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 273

COL6A3 p.Ala1373Thr Benign/Likely benign Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala1705Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg1738His Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg1970Cys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2136Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Arg2154Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2290Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg2811His Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg677Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Arg856Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Arg935Trp Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A3 p.Asp1653Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asp2617Glu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Asp263His Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Asp2831Tyr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gln2840Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Glu2312Lys Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Glu388Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Glu388Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Glu785Ala Uncertain significance Multiple submitters
COL6A3 p.Gly121Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly135Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly1510Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Gly323Ser Uncertain significance Multiple submitters
spinocerebellar ataxia type 13
COL6A3 p.Gly526Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.His129Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.His2564Leu Uncertain significance Multiple submitters
collagen 6-related myopathy
COL6A3 p.Ile1381Phe Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Leu1047Phe Uncertain significance Multiple submitters
COL6A3 p.Leu1400Gln Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Leu57Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Lys1699Gln Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Lys2483Glu Pathogenic/Likely pathogenic Multiple submitters
Fetal anomalies with a likely genetic cause
COL6A3 p.Phe2839Ile Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Phe42Val Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro1337Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro2157Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Pro2157Thr Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro2178Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro2316Ser Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro2393Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro2682Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Pro87Arg Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ser1755Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ser2516Gly Uncertain significance Multiple submitters
Bethlem myopathy 1C
COL6A3 p.Tyr696His Uncertain significance Multiple submitters
Inborn genetic diseases
COL6A3 p.Val1060Met Uncertain significance Multiple submitters
COL6A3 p.Val1980Leu Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Val650Phe Uncertain significance Multiple submitters
Bethlem myopathy 1A
COL6A3 p.Ala1519Ser Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Ala189Thr Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala1965Pro Uncertain significance Single submitter
COL6A3 p.Ala241Thr Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2443Val Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2670Val Conflicting Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Ala2755Pro Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala2787Thr Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala308Thr Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala368Val Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala528Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala878Thr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Ala919Thr Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Arg1064Trp Conflicting Single submitter
Bethlem myopathy 1C
COL6A3 p.Arg1066His Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1232Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1252Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1252Gly Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Arg1252His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1252Leu Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Arg137Gln Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Arg137Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg1395Leu Uncertain significance Single submitter
collagen 6-related myopathy
COL6A3 p.Arg2073His Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg2097Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg2251Trp Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg2265Thr Uncertain significance Single submitter
COL6A3 p.Arg2290Cys Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Arg2290His Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg2422Gly Uncertain significance Single submitter
COL6A3 p.Arg2459Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg280Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg2814Trp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg341Cys Benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg341His Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Arg406Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg444Ser Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg465Gln Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg59Gln Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg659Cys Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Arg659Leu Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Arg677Cys Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Arg856His Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Arg955His Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Asn1482Ile Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Asn1850Lys Uncertain significance Single submitter
COL6A3 p.Asn729Asp Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp1063Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp1374Val Conflicting Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Asp1555Gly Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Asp1695Val Conflicting Single submitter
collagen 6-related myopathy
COL6A3 p.Asp2012Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp2156Tyr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp263Tyr Uncertain significance Single submitter
COL6A3 p.Asp2650Gly Uncertain significance Single submitter
COL6A3 p.Asp327Tyr Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp491Val Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Asp660Ala Uncertain significance Single submitter
COL6A3 p.Asp660Gly Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Asp757Asn Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Asp857Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Cys3060Trp Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gln1275Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gln1479Leu Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Glu1377Val Uncertain significance Single submitter
collagen 6-related myopathy
COL6A3 p.Glu1757Ala Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Glu2223Lys Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Glu690Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Glu690Lys Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Glu787Gly Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Glu90Ala Uncertain significance Single submitter
COL6A3 p.Glu90Val Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Glu982Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly1036Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly113Arg Uncertain significance Single submitter
COL6A3 p.Gly1166Ala Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Gly1510Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly1510Arg Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly1511Ala Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 1A
COL6A3 p.Gly152Glu Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly1646Ser Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Gly2047Ser Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Gly2198Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2216Ser Uncertain significance Single submitter
COL6A3 p.Gly2219Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2300Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly254Arg Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2716Val Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2745Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly2773Ser Conflicting Single submitter
Inborn genetic diseases
COL6A3 p.Gly317Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly338Trp Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Gly339Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly339Ser Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly356Arg Conflicting Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly356Glu Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly380Ala Uncertain significance Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly558Cys Uncertain significance Single submitter
COL6A3 p.Gly559Asp Likely benign Single submitter
Bethlem myopathy 1A
COL6A3 p.Gly646Ala Uncertain significance Single submitter
Inborn genetic diseases
COL6A3 p.Gly679Ser Conflicting Single submitter
Inborn genetic diseases

All COL6A3 variants

Pathogenic 110

c.6156+1G>A Multiple submitters Bethlem myopathy 1A
c.6157-2A>C Multiple submitters Bethlem myopathy 1A
c.6210+1G>A Multiple submitters Bethlem myopathy 1C
c.6282+1G>A Multiple submitters Inborn genetic diseases
c.6309+1G>A Multiple submitters Bethlem myopathy 1A
c.6354+1G>T Multiple submitters Bethlem myopathy 1A
c.6930+5G>A Multiple submitters Ullrich congenital muscular dystrophy 1A
c.7094del Multiple submitters Bethlem myopathy 1A
c.8966-1G>C Multiple submitters dystonia 27
p.Ala2978fs Multiple submitters Bethlem myopathy 1A
p.Arg1456Ter Multiple submitters Bethlem myopathy 1A
p.Arg2154Ter Multiple submitters Ullrich congenital muscular dystrophy 1A
p.Arg2342Ter Multiple submitters Bethlem myopathy 1A
p.Arg465Ter Multiple submitters Bethlem myopathy 1A
p.Asn1169fs Multiple submitters Ullrich congenital muscular dystrophy 1A
p.Gln1375fs Multiple submitters Bethlem myopathy 1A
p.Gln26Ter Multiple submitters Bethlem myopathy 1A
p.Gly1827fs Multiple submitters Bethlem myopathy 1A
p.Gly2053Val Multiple submitters Bethlem myopathy 1A
p.Gly2074Ser Multiple submitters Bethlem myopathy 1A
p.Gly2080Asp Multiple submitters Bethlem myopathy 1A
p.Phe2599fs Multiple submitters Bethlem myopathy 1A
c.6064-2A>G Single submitter
c.6156+1G>T Single submitter Bethlem myopathy 1A
c.6156+2T>C Single submitter Bethlem myopathy 1A
c.6210+1G>C Single submitter Ullrich congenital muscular dystrophy 1C
c.6210+2T>A Single submitter
c.6210+5G>A Single submitter Bethlem myopathy 1A
c.6212_6309+28del Single submitter Bethlem myopathy 1A
c.6282+2T>G Single submitter
c.6283-15C>A Single submitter Bethlem myopathy 1A
c.6283-1G>A Single submitter Bethlem myopathy 1A
c.6283-2A>G Single submitter Bethlem myopathy 1A
c.6309_6309+1del Single submitter Bethlem myopathy 1A
c.6355-2dup Single submitter Bethlem myopathy 1A
c.7174+1del Single submitter Bethlem myopathy 1A
p.Ala134fs Single submitter Bethlem myopathy 1A
p.Ala2461fs Single submitter Bethlem myopathy 1A
p.Ala778fs Single submitter Bethlem myopathy 1A
p.Ala996fs Single submitter
p.Arg1597Ter Single submitter Bethlem myopathy 1A
p.Arg2811fs Single submitter Bethlem myopathy 1A
p.Arg874Ter Single submitter Bethlem myopathy 1A
p.Cys216fs Single submitter Bethlem myopathy 1A
p.Gln1134Ter Single submitter Bethlem myopathy 1A
p.Gln1479Ter Single submitter Bethlem myopathy 1A
p.Gln2039fs Single submitter Bethlem myopathy 1A
p.Gln2039Ter Single submitter
p.Gln2085Ter Single submitter Ullrich congenital muscular dystrophy 1C
p.Gln2550Ter Single submitter Bethlem myopathy 1A
p.Gln2556Ter Single submitter Bethlem myopathy 1A
p.Gln2761Ter Single submitter Bethlem myopathy 1A
p.Gln371Ter Single submitter Bethlem myopathy 1A
p.Gln412Ter Single submitter Bethlem myopathy 1A
p.Gln567fs Single submitter Bethlem myopathy 1A
p.Gln567Ter Single submitter Bethlem myopathy 1A
p.Gln570Ter Single submitter Bethlem myopathy 1A
p.Gln788Ter Single submitter Bethlem myopathy 1A
p.Gln811Ter Single submitter Bethlem myopathy 1A
p.Gln82Ter Single submitter Bethlem myopathy 1A
p.Glu1582Ter Single submitter Bethlem myopathy 1A
p.Glu1634fs Single submitter Bethlem myopathy 1A
p.Glu1983Ter Single submitter Bethlem myopathy 1A
p.Glu2453Ter Single submitter Bethlem myopathy 1A
p.Glu289Ter Single submitter Bethlem myopathy 1A
p.Glu60fs Single submitter Bethlem myopathy 1A
p.Glu73Ter Single submitter Bethlem myopathy 1A
p.Gly1476fs Single submitter Bethlem myopathy 1A
p.Gly2053Asp Single submitter Bethlem myopathy 1A
p.Gly2053Cys Single submitter
p.Gly2059Cys Single submitter
p.Gly2074Asp Single submitter Bethlem myopathy 1A
p.Gly2077Val Single submitter Bethlem myopathy 1A
p.Gly2140Ter Single submitter Bethlem myopathy 1A
p.Gly2207fs Single submitter Bethlem myopathy 1A
p.Gly2371fs Single submitter Bethlem myopathy 1A
p.Gly3016fs Single submitter Bethlem myopathy 1A
p.His1725Pro Single submitter
p.His3055fs Single submitter Bethlem myopathy 1A
p.Ile789fs Single submitter Bethlem myopathy 1A
p.Leu2828fs Single submitter Ullrich congenital muscular dystrophy 1A
p.Leu62fs Single submitter Bethlem myopathy 1A
p.Lys1861Ter Single submitter Bethlem myopathy 1A
p.Lys2052Asn Single submitter Bethlem myopathy 1A
p.Lys2103= Single submitter Bethlem myopathy 1A
p.Lys2103Arg Single submitter Bethlem myopathy 1A ⚠
p.Lys2272= Single submitter congenital myopathy
p.Phe2099_Glu2102delinsTer Single submitter Bethlem myopathy 1A
p.Phe2418Tyr Single submitter Bethlem myopathy 1C ⚠
p.Phe2515fs Single submitter
p.Phe264fs Single submitter Bethlem myopathy 1A
p.Phe61Ter Single submitter Bethlem myopathy 1A
p.Ser1512fs Single submitter Bethlem myopathy 1A
p.Ser647Ter Single submitter Bethlem myopathy 1A
p.Thr751fs Single submitter Bethlem myopathy 1A
p.Trp3128Ter Single submitter Bethlem myopathy 1A
p.Tyr1670Ter Single submitter
p.Tyr1933fs Single submitter Bethlem myopathy 1A
p.Tyr2063Cys Single submitter Bethlem myopathy 1A
p.Tyr759Ter Single submitter
p.Val1771fs Single submitter Bethlem myopathy 1A
p.Val3066fs Single submitter Bethlem myopathy 1A
p.Val824fs Single submitter Bethlem myopathy 1A
c.6156+1_6156+2delinsTC No assertion criteria Bethlem myopathy 1C
c.6210+1G>T No assertion criteria
p.Asn2847fs No assertion criteria Bethlem myopathy 1C
p.Gln614Ter No assertion criteria Bethlem myopathy 1A
p.Gly2356Ter No assertion criteria Ullrich congenital muscular dystrophy 1A
p.Leu1726Arg No assertion criteria Bethlem myopathy 1C
p.Leu2574fs No assertion criteria Bethlem myopathy 1A

Pathogenic/Likely pathogenic 26

c.5838+1G>T Multiple submitters Bethlem myopathy 1A
c.6282+1G>C Multiple submitters collagen 6-related myopathy
c.6309+1G>T Multiple submitters Ullrich congenital muscular dystrophy 1A
c.6310-28_6325del Multiple submitters Bethlem myopathy 1A
c.6310-2A>G Multiple submitters Ullrich congenital muscular dystrophy 1A
c.6354+1G>A Multiple submitters Inborn genetic diseases
p.Arg1464Ter Multiple submitters Bethlem myopathy 1A
p.Arg1984Ter Multiple submitters Ullrich congenital muscular dystrophy 1A
p.Arg1998Ter Multiple submitters Bethlem myopathy 1A
p.Arg2061Ter Multiple submitters limb-girdle muscular dystrophy
p.Arg2202Ter Multiple submitters COL6A3-related disorder
p.Arg2422Ter Multiple submitters Bethlem myopathy 1A
p.Arg609Ter Multiple submitters COL6A3-related disorder
p.Arg836Ter Multiple submitters dystonia 27
p.Gln3065Ter Multiple submitters
p.Gly1679Glu Multiple submitters Bethlem myopathy 1C
p.Gly176Ter Multiple submitters Bethlem myopathy 1A
p.Gly2065Arg Multiple submitters Bethlem myopathy 1A
p.Gly2071Asp Multiple submitters Bethlem myopathy 1A
p.Gly2077Asp Multiple submitters Bethlem myopathy 1A
p.Gly2080Arg Multiple submitters Inborn genetic diseases
p.Gly254fs Multiple submitters COL6A3-related disorder
p.Lys2483Glu Multiple submitters Fetal anomalies with a likely genetic cause ⚠
p.Ser1612Ter Multiple submitters
p.Ser453fs Multiple submitters Bethlem myopathy 1A
c.7669-2del No assertion criteria COL6A3-related disorder

Likely pathogenic 65

c.3071-2A>G Multiple submitters Bethlem myopathy 1C
p.Arg2263Ter Multiple submitters Bethlem myopathy 1A
p.Gly2065Ser Multiple submitters Bethlem myopathy 1A
c.1313-442_1595delinsGCAAC Single submitter Bethlem myopathy 1A
c.1313-7_1315del Single submitter Bethlem myopathy 1A
c.1897+1G>T Single submitter Bethlem myopathy 1A
c.3071-1G>A Single submitter Bethlem myopathy 1A
c.4285+1G>T Single submitter
c.4286-2A>C Single submitter Bethlem myopathy 1A
c.4286-2A>G Single submitter Bethlem myopathy 1A
c.6157-1G>A Single submitter Ullrich congenital muscular dystrophy 1A
c.6283-326_6296del Single submitter Bethlem myopathy 1A
c.6309+1G>C Single submitter Bethlem myopathy 1A
c.6309+3A>C Single submitter Ullrich congenital muscular dystrophy 1A
c.6355-1G>A Single submitter
c.6355-2A>G Single submitter
c.6409-1G>C Single submitter Bethlem myopathy 1A
c.6409-2A>G Single submitter Bethlem myopathy 1A
c.6537+1G>A Single submitter
c.6967-2A>G Single submitter Bethlem myopathy 1A
c.7162+1G>A Single submitter Bethlem myopathy 1A
c.7668+1G>A Single submitter Ullrich congenital muscular dystrophy 1A
c.8467= Single submitter
c.8568-1G>A Single submitter Bethlem myopathy 1A
c.8965+1G>A Single submitter
c.8966-2A>G Single submitter dystonia 27
c.9230-1G>A Single submitter Bethlem myopathy 1A
p.2111LDG[1] Single submitter
p.Ala2956fs Single submitter
p.Ala960fs Single submitter
p.Arg1651fs Single submitter Bethlem myopathy 1A
p.Arg2142Ter Single submitter Ullrich congenital muscular dystrophy 1A
p.Arg2444Pro Single submitter Bethlem myopathy 1A
p.Asp1761fs Single submitter COL6A3-related disorder
p.Gln1542Ter Single submitter
p.Gln2477Ter Single submitter
p.Gln2659Ter Single submitter Bethlem myopathy 1A
p.Glu2072fs Single submitter Bethlem myopathy 1A
p.Gly1158fs Single submitter
p.Gly1679Arg Single submitter Bethlem myopathy 1A
p.Gly1842Arg Single submitter Abnormality of the musculature
p.Gly2068fs Single submitter
p.Gly2074Cys Single submitter COL6A3-related disorder
p.Gly2080Cys Single submitter Ullrich congenital muscular dystrophy 1A
p.Gly2080Ser Single submitter
p.Gly2083Val Single submitter
p.Gly2098Glu Single submitter
p.Gly2107del Single submitter Bethlem myopathy 1A
p.Gly2119Arg Single submitter Inborn genetic diseases
p.Gly2158Arg Single submitter
p.Gly2285Arg Single submitter Bethlem myopathy 1A
p.Gly2323Ser Single submitter Bethlem myopathy 1A
p.Leu620fs Single submitter
p.Lys2052= Single submitter collagen 6-related myopathy
p.Lys2850Ter Single submitter
p.Met197fs Single submitter
p.Pro3017fs Single submitter Ullrich congenital muscular dystrophy 1A
p.Ser1888_Val1890del Single submitter
p.Ser250Ter Single submitter
p.Thr2879fs Single submitter Abnormality of the musculature
p.Tyr2692fs Single submitter Ullrich congenital muscular dystrophy 1A
p.Tyr2692Ter Single submitter
p.Val3059fs Single submitter Ullrich congenital muscular dystrophy 1A
p.Leu749fs No assertion criteria
p.Lys3078fs No assertion criteria Tip-toe gait

Conflicting classifications of pathogenicity 650

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

c.1313-7C>T Single submitter Bethlem myopathy 1A
c.1898-5T>C Single submitter Bethlem myopathy 1A
c.2497+9C>A Single submitter Bethlem myopathy 1A
c.2497+9C>T Single submitter Bethlem myopathy 1A
c.3680-4G>A Single submitter Bethlem myopathy 1A
c.3680-5C>T Single submitter Bethlem myopathy 1A
c.4285+13C>T Single submitter collagen 6-related myopathy
c.4285+14G>A Single submitter collagen 6-related myopathy
c.4900+10G>A Single submitter Bethlem myopathy 1A
c.4900+9C>T Single submitter collagen 6-related myopathy
c.5501-4C>G Single submitter Bethlem myopathy 1A
c.5839-3C>T Single submitter muscular dystrophy
c.6156+5G>A Single submitter Bethlem myopathy 1A
c.6157-4T>G Single submitter Bethlem myopathy 1A
c.6592-3C>T Single submitter collagen 6-related myopathy
c.6754-9C>G Single submitter Bethlem myopathy 1A
c.6817-5T>C Single submitter Bethlem myopathy 1A
c.6817-6G>A Single submitter Bethlem myopathy 1A
c.6930+4C>T Single submitter collagen 6-related myopathy
c.6931-6T>C Single submitter Bethlem myopathy 1A
c.6966+10C>G Single submitter Bethlem myopathy 1A
c.7029+10C>T Single submitter collagen 6-related myopathy
c.7030-4C>G Single submitter Bethlem myopathy 1A
c.709+8C>T Single submitter Ullrich congenital muscular dystrophy 1A
c.7162+2dup Single submitter Bethlem myopathy 1A
c.7175-6C>G Single submitter Bethlem myopathy 1A
c.8464+20G>C Single submitter Bethlem myopathy 1A
c.8567+2dup Single submitter Bethlem myopathy 1A
c.9230-4A>G Single submitter Bethlem myopathy 1A
c.9329-33C>T Single submitter
c.9494-10C>T Single submitter collagen 6-related myopathy
c.9494-5C>T Single submitter Bethlem myopathy 1A
p.Ala1094Thr Single submitter Bethlem myopathy 1A
p.Ala1111Thr Single submitter Inborn genetic diseases ⚠
p.Ala1124Glu Single submitter Inborn genetic diseases ⚠
p.Ala1124Val Single submitter collagen 6-related myopathy ⚠
p.Ala1170Thr Single submitter collagen 6-related myopathy
p.Ala1185= Single submitter Bethlem myopathy 1A
p.Ala1244= Single submitter Bethlem myopathy 1A
p.Ala1288Thr Single submitter Inborn genetic diseases
p.Ala1298= Single submitter Bethlem myopathy 1A
p.Ala1356Thr Single submitter Bethlem myopathy 1A
p.Ala138= Single submitter collagen 6-related myopathy
p.Ala1497= Single submitter Bethlem myopathy 1A
p.Ala1502Thr Single submitter collagen 6-related myopathy
p.Ala1532Val Single submitter collagen 6-related myopathy
p.Ala1560Thr Single submitter Inborn genetic diseases
p.Ala1617Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala163= Single submitter collagen 6-related myopathy
p.Ala1638Thr Single submitter dystonia 27
p.Ala1759Gly Single submitter Bethlem myopathy 1A
p.Ala1796Val Single submitter Inborn genetic diseases
p.Ala1819Val Single submitter Bethlem myopathy 1A
p.Ala184= Single submitter Bethlem myopathy 1A
p.Ala184Thr Single submitter Inborn genetic diseases ⚠
p.Ala1960Val Single submitter Inborn genetic diseases ⚠
p.Ala2208Ser Single submitter Bethlem myopathy 1A ⚠
p.Ala2208Thr Single submitter collagen 6-related myopathy ⚠
p.Ala2256= Single submitter Bethlem myopathy 1A
p.Ala2256Thr Single submitter Inborn genetic diseases ⚠
p.Ala2257Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala2406Ser Single submitter Inborn genetic diseases
p.Ala2536= Single submitter Bethlem myopathy 1A
p.Ala2536Val Single submitter Bethlem myopathy 1A
p.Ala2554Thr Single submitter Ullrich congenital muscular dystrophy 1A
p.Ala2565= Single submitter Bethlem myopathy 1A
p.Ala259Thr Single submitter Inborn genetic diseases ⚠
p.Ala259Val Single submitter Bethlem myopathy 1A ⚠
p.Ala2611Val Single submitter collagen 6-related myopathy
p.Ala2627Thr Single submitter Bethlem myopathy 1A
p.Ala2662Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala2670Thr Single submitter Inborn genetic diseases ⚠
p.Ala2670Val Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Ala2714Ser Single submitter Bethlem myopathy 1A ⚠
p.Ala2730Asp Single submitter collagen 6-related myopathy
p.Ala2787Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala2908= Single submitter Bethlem myopathy 1A
p.Ala2913Asp Single submitter Bethlem myopathy 1A
p.Ala2915Thr Single submitter Inborn genetic diseases ⚠
p.Ala2915Val Single submitter Bethlem myopathy 1A ⚠
p.Ala2935= Single submitter Bethlem myopathy 1A
p.Ala2942Val Single submitter Bethlem myopathy 1A ⚠
p.Ala2956Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala2959Ser Single submitter Bethlem myopathy 1A ⚠
p.Ala2964Val Single submitter Bethlem myopathy 1A ⚠
p.Ala2975Val Single submitter Bethlem myopathy 1A ⚠
p.Ala3050Thr Single submitter collagen 6-related myopathy ⚠
p.Ala3163Thr Single submitter Inborn genetic diseases ⚠
p.Ala3167Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala320Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala355= Single submitter Inborn genetic diseases
p.Ala355Thr Single submitter collagen 6-related myopathy
p.Ala36= Single submitter Bethlem myopathy 1A
p.Ala36Val Single submitter Bethlem myopathy 1A ⚠
p.Ala384Thr Single submitter Inborn genetic diseases
p.Ala423Val Single submitter Inborn genetic diseases
p.Ala541= Single submitter collagen 6-related myopathy
p.Ala546Thr Single submitter Bethlem myopathy 1A ⚠
p.Ala611Thr Single submitter Inborn genetic diseases ⚠
p.Ala769Thr Single submitter collagen 6-related myopathy
p.Ala769Val Single submitter Bethlem myopathy 1A
p.Ala781= Single submitter Bethlem myopathy 1A
p.Ala781Val Single submitter Bethlem myopathy 1A
p.Ala784Thr Single submitter Bethlem myopathy 1A
p.Ala79= Single submitter dystonia 27
p.Ala919= Single submitter Bethlem myopathy 1A
p.Ala919Val Single submitter Inborn genetic diseases ⚠
p.Ala949Thr Single submitter collagen 6-related myopathy
p.Ala960Gly Single submitter Bethlem myopathy 1A
p.Ala978Thr Single submitter Inborn genetic diseases
p.Ala991Val Single submitter Inborn genetic diseases ⚠
p.Arg1064Trp Single submitter Bethlem myopathy 1C ⚠
p.Arg1066= Single submitter Bethlem myopathy 1A
p.Arg1066Cys Single submitter Inborn genetic diseases ⚠
p.Arg1075= Single submitter Bethlem myopathy 1A
p.Arg1075Trp Single submitter Bethlem myopathy 1A
p.Arg1096Cys Single submitter collagen 6-related myopathy
p.Arg1096His Single submitter Bethlem myopathy 1A
p.Arg1149Gln Single submitter Inborn genetic diseases ⚠
p.Arg1149Trp Single submitter collagen 6-related myopathy
p.Arg1210= Single submitter Bethlem myopathy 1A
p.Arg1252Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg1252His Single submitter Bethlem myopathy 1A ⚠
p.Arg1270Trp Single submitter Bethlem myopathy 1A
p.Arg1301Gln Single submitter collagen 6-related myopathy ⚠
p.Arg1301Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg1308Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg137Gln Single submitter collagen 6-related myopathy ⚠
p.Arg137Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg1395Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg1424His Single submitter Inborn genetic diseases ⚠
p.Arg1504= Single submitter Bethlem myopathy 1A
p.Arg1504Trp Single submitter Bethlem myopathy 1A
p.Arg1505His Single submitter Bethlem myopathy 1A
p.Arg1535Cys Single submitter Inborn genetic diseases ⚠
p.Arg1564Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg1564His Single submitter Inborn genetic diseases ⚠
p.Arg1576Trp Single submitter Bethlem myopathy 1A
p.Arg1632Trp Single submitter Inborn genetic diseases
p.Arg1727Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg1727Trp Single submitter collagen 6-related myopathy
p.Arg1779= Single submitter Bethlem myopathy 1A
p.Arg1798= Single submitter Bethlem myopathy 1A
p.Arg1798His Single submitter collagen 6-related myopathy
p.Arg1881Cys Single submitter Bethlem myopathy 1A
p.Arg1886His Single submitter Inborn genetic diseases ⚠
p.Arg1915Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg1918His Single submitter Bethlem myopathy 1A ⚠
p.Arg1964Ser Single submitter Inborn genetic diseases ⚠
p.Arg1970= Single submitter Bethlem myopathy 1A
p.Arg1970His Single submitter Bethlem myopathy 1A ⚠
p.Arg1975His Single submitter Bethlem myopathy 1A ⚠
p.Arg1990Gln Single submitter COL6A3-related disorder ⚠
p.Arg1990Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg2043His Single submitter Inborn genetic diseases
p.Arg2061Gln Single submitter Inborn genetic diseases
p.Arg2097Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg2202Gln Single submitter Bethlem myopathy 1A
p.Arg2251Trp Single submitter Inborn genetic diseases ⚠
p.Arg2290Cys Single submitter collagen 6-related myopathy ⚠
p.Arg2290His Single submitter Bethlem myopathy 1A ⚠
p.Arg2306Cys Single submitter Bethlem myopathy 1A
p.Arg2420Gln Single submitter Inborn genetic diseases ⚠
p.Arg2420Trp Single submitter collagen 6-related myopathy
p.Arg2441Gln Single submitter Bethlem myopathy 1A
p.Arg2459Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg2501His Single submitter collagen 6-related myopathy
p.Arg2549= Single submitter Bethlem myopathy 1A
p.Arg2549Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg2713Gly Single submitter Inborn genetic diseases
p.Arg2734Gln Single submitter Inborn genetic diseases
p.Arg2757Thr Single submitter Inborn genetic diseases ⚠
p.Arg280Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg280Leu Single submitter collagen 6-related myopathy
p.Arg2993Cys Single submitter Bethlem myopathy 1A
p.Arg2993His Single submitter COL6A3-related disorder
p.Arg3011Met Single submitter Bethlem myopathy 1A ⚠
p.Arg3043Cys Single submitter Inborn genetic diseases ⚠
p.Arg336Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg336Trp Single submitter Bethlem myopathy 1A
p.Arg341His Single submitter collagen 6-related myopathy ⚠
p.Arg341Leu Single submitter Bethlem myopathy 1A ⚠
p.Arg363Cys Single submitter Bethlem myopathy 1A
p.Arg363His Single submitter Bethlem myopathy 1A ⚠
p.Arg406Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg406His Single submitter Bethlem myopathy 1A ⚠
p.Arg444Ser Single submitter Bethlem myopathy 1A ⚠
p.Arg465Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg474Gly Single submitter Inborn genetic diseases ⚠
p.Arg513Gln Single submitter Bethlem myopathy 1A ⚠
p.Arg513Trp Single submitter Bethlem myopathy 1A ⚠
p.Arg533Cys Single submitter Bethlem myopathy 1A
p.Arg59Ter Single submitter dystonia 27
p.Arg5Gln Single submitter Bethlem myopathy 1A
p.Arg609Gln Single submitter collagen 6-related myopathy
p.Arg625Thr Single submitter Inborn genetic diseases
p.Arg659= Single submitter Bethlem myopathy 1A
p.Arg659Cys Single submitter collagen 6-related myopathy ⚠
p.Arg677Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg740Cys Single submitter Bethlem myopathy 1C
p.Arg740His Single submitter Bethlem myopathy 1A ⚠
p.Arg768Cys Single submitter Inborn genetic diseases
p.Arg768Gly Single submitter Bethlem myopathy 1A
p.Arg768His Single submitter Bethlem myopathy 1A
p.Arg856His Single submitter Inborn genetic diseases ⚠
p.Arg889Cys Single submitter collagen 6-related myopathy
p.Arg889His Single submitter Bethlem myopathy 1A ⚠
p.Arg955His Single submitter collagen 6-related myopathy ⚠
p.Arg97Cys Single submitter Bethlem myopathy 1A
p.Arg97His Single submitter Inborn genetic diseases ⚠
p.Asn1093= Single submitter Bethlem myopathy 1A
p.Asn1169= Single submitter collagen 6-related myopathy
p.Asn1311Ser Single submitter Inborn genetic diseases
p.Asn1467Asp Single submitter collagen 6-related myopathy ⚠
p.Asn1801= Single submitter Bethlem myopathy 1A
p.Asn2023Ser Single submitter Bethlem myopathy 1A ⚠
p.Asn2079= Single submitter Bethlem myopathy 1A
p.Asn2132Tyr Single submitter Bethlem myopathy 1A
p.Asn2452Lys Single submitter Inborn genetic diseases ⚠
p.Asn2517= Single submitter Bethlem myopathy 1A
p.Asn2553= Single submitter Bethlem myopathy 1A
p.Asn2805= Single submitter collagen 6-related myopathy
p.Asn3148= Single submitter Bethlem myopathy 1A
p.Asn462Ser Single submitter Inborn genetic diseases
p.Asn535= Single submitter Bethlem myopathy 1A
p.Asn636Asp Single submitter Bethlem myopathy 1A
p.Asn654Ser Single submitter Inborn genetic diseases
p.Asn718Ser Single submitter Bethlem myopathy 1A
p.Asn764= Single submitter collagen 6-related myopathy
p.Asn84= Single submitter Bethlem myopathy 1A
p.Asn84Ser Single submitter Bethlem myopathy 1A ⚠
p.Asn867Ile Single submitter Bethlem myopathy 1A
p.Asn915= Single submitter Bethlem myopathy 1A
p.Asp1035= Single submitter Bethlem myopathy 1A
p.Asp1063Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp1074Asn Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Asp1183Glu Single submitter Bethlem myopathy 1A
p.Asp1233= Single submitter Bethlem myopathy 1A
p.Asp1263= Single submitter Bethlem myopathy 1A
p.Asp1349= Single submitter Bethlem myopathy 1A
p.Asp1374Val Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Asp1483Val Single submitter Inborn genetic diseases
p.Asp1501= Single submitter collagen 6-related myopathy
p.Asp151Glu Single submitter Inborn genetic diseases
p.Asp1538= Single submitter Bethlem myopathy 1A
p.Asp1554= Single submitter Bethlem myopathy 1A
p.Asp1555Asn Single submitter dystonia 27
p.Asp156Ala Single submitter Bethlem myopathy 1A
p.Asp156Tyr Single submitter Inborn genetic diseases
p.Asp1589Asn Single submitter Bethlem myopathy 1A ⚠
p.Asp1645= Single submitter collagen 6-related myopathy
p.Asp1674Asn Single submitter Bethlem myopathy 1A
p.Asp1695Val Single submitter collagen 6-related myopathy ⚠
p.Asp181= Single submitter Bethlem myopathy 1A
p.Asp1848Glu Single submitter COL6A3-related disorder ⚠
p.Asp1863= Single submitter Bethlem myopathy 1A
p.Asp2014Tyr Single submitter Inborn genetic diseases
p.Asp2022= Single submitter collagen 6-related myopathy
p.Asp2118Tyr Single submitter collagen 6-related myopathy
p.Asp2163Glu Single submitter Tip-toe gait
p.Asp2299= Single submitter Bethlem myopathy 1A
p.Asp2372Asn Single submitter limb-girdle muscular dystrophy ⚠
p.Asp2615Asn Single submitter dystonia 27 ⚠
p.Asp2615Tyr Single submitter Inborn genetic diseases ⚠
p.Asp2617Asn Single submitter collagen 6-related myopathy ⚠
p.Asp2792= Single submitter Bethlem myopathy 1A
p.Asp288Asn Single submitter collagen 6-related myopathy ⚠
p.Asp3021His Single submitter COL6A3-related disorder ⚠
p.Asp3117= Single submitter collagen 6-related myopathy
p.Asp360= Single submitter Bethlem myopathy 1A
p.Asp519= Single submitter collagen 6-related myopathy
p.Asp757Asn Single submitter Inborn genetic diseases ⚠
p.Asp800Glu Single submitter Inborn genetic diseases
p.Asp843= Single submitter collagen 6-related myopathy
p.Asp979Glu Single submitter Bethlem myopathy 1A
p.Cys3060Trp Single submitter Bethlem myopathy 1A ⚠
p.Gln1217His Single submitter Inborn genetic diseases
p.Gln1479Leu Single submitter Bethlem myopathy 1A ⚠
p.Gln1745Arg Single submitter Inborn genetic diseases ⚠
p.Gln2039His Single submitter Bethlem myopathy 1A
p.Gln2085= Single submitter Bethlem myopathy 1A
p.Gln2525= Single submitter Bethlem myopathy 1A
p.Gln382= Single submitter Bethlem myopathy 1A
p.Gln754Arg Single submitter collagen 6-related myopathy ⚠
p.Glu1079Lys Single submitter collagen 6-related myopathy
p.Glu1358Lys Single submitter Bethlem myopathy 1A
p.Glu1386Lys Single submitter collagen 6-related myopathy
p.Glu1414Gln Single submitter Inborn genetic diseases ⚠
p.Glu1807Lys Single submitter Inborn genetic diseases
p.Glu1859Lys Single submitter Inborn genetic diseases ⚠
p.Glu1912Lys Single submitter Inborn genetic diseases ⚠
p.Glu2067Lys Single submitter Ullrich congenital muscular dystrophy 1A ⚠
p.Glu2720Lys Single submitter Bethlem myopathy 1A ⚠
p.Glu2746Lys Single submitter Ullrich congenital muscular dystrophy 1A
p.Glu2803Lys Single submitter Inborn genetic diseases
p.Glu2806Lys Single submitter Inborn genetic diseases
p.Glu2968Ala Single submitter Inborn genetic diseases ⚠
p.Glu3002Gly Single submitter Bethlem myopathy 1A ⚠
p.Glu3149Lys Single submitter Inborn genetic diseases ⚠
p.Glu690Lys Single submitter Inborn genetic diseases ⚠

Benign 179

c.3680-107T>C Multiple submitters
c.5501-150G>T Multiple submitters
c.5838+12C>A Multiple submitters Bethlem myopathy 1A
c.5917+28G>C Multiple submitters
c.6063+13dup Multiple submitters Bethlem myopathy 1A
c.6064-170G>C Multiple submitters
c.6064-71A>G Multiple submitters
c.6156+4C>T Multiple submitters Bethlem myopathy 1A
c.6156+54A>G Multiple submitters
c.6157-16G>A Multiple submitters Bethlem myopathy 1A
c.6157-54G>C Multiple submitters
c.6210+172T>C Multiple submitters
c.6211-3C>T Multiple submitters collagen 6-related myopathy
c.6282+277T>G Multiple submitters
c.6282+50C>T Multiple submitters
c.6408+91C>T Multiple submitters
c.6471+106C>T Multiple submitters
c.6472-108C>T Multiple submitters
c.6472-176C>T Multiple submitters
c.6537+212C>G Multiple submitters
c.6538-112G>A Multiple submitters
c.6591+297G>A Multiple submitters
c.6592-16A>T Multiple submitters dystonia 27
c.6628-208G>A Multiple submitters
c.6628-233C>T Multiple submitters
c.6690+134A>G Multiple submitters
c.6691-115G>A Multiple submitters
c.6753+52G>T Multiple submitters
c.6753+53C>T Multiple submitters
c.6754-301C>A Multiple submitters
c.6816+98C>T Multiple submitters
c.6880-47T>C Multiple submitters
c.6930+28C>T Multiple submitters
c.6930+43G>C Multiple submitters
c.6931-100G>T Multiple submitters
c.6966+167C>T Multiple submitters
c.6967-60A>G Multiple submitters
c.7030-77C>T Multiple submitters
c.7092+26G>A Multiple submitters dystonia 27
c.7093-74T>C Multiple submitters
c.7175-32G>A Multiple submitters
c.7669-231A>C Multiple submitters
c.7669-35C>T Multiple submitters
c.8465-34C>T Multiple submitters
c.8465-7del Multiple submitters Bethlem myopathy 1A
c.8965+203A>G Multiple submitters
c.8965+219C>G Multiple submitters
c.8965+252T>C Multiple submitters
c.8966-124G>A Multiple submitters
c.91+159G>A Multiple submitters
c.91+15C>T Multiple submitters Bethlem myopathy 1A
c.92-59T>C Multiple submitters
c.92-99C>A Multiple submitters
c.9230-203C>T Multiple submitters
c.9328+212A>C Multiple submitters
c.9494-26C>T Multiple submitters
c.-31+17T>C Multiple submitters
c.*606A>T Multiple submitters collagen 6-related myopathy
c.*665G>T Multiple submitters collagen 6-related myopathy
c.*7G>C Multiple submitters collagen 6-related myopathy
p.Ala2443= Multiple submitters collagen 6-related myopathy
p.Ala2670= Multiple submitters collagen 6-related myopathy
p.Ala2915= Multiple submitters Bethlem myopathy 1A
p.Ala3012Pro Multiple submitters dystonia 27
p.Ala463= Multiple submitters collagen 6-related myopathy
p.Ala546= Multiple submitters collagen 6-related myopathy
p.Ala807Thr Multiple submitters collagen 6-related myopathy
p.Ala830Ser Multiple submitters collagen 6-related myopathy
p.Arg1576Gln Multiple submitters collagen 6-related myopathy
p.Arg1700= Multiple submitters collagen 6-related myopathy
p.Arg2503= Multiple submitters collagen 6-related myopathy
p.Arg3011Gly Multiple submitters collagen 6-related myopathy
p.Arg3043= Multiple submitters collagen 6-related myopathy
p.Arg638= Multiple submitters collagen 6-related myopathy
p.Arg659His Multiple submitters collagen 6-related myopathy
p.Asn2324= Multiple submitters Bethlem myopathy 1A
p.Asn2504= Multiple submitters collagen 6-related myopathy
p.Asp1293Glu Multiple submitters collagen 6-related myopathy
p.Asp2831His Multiple submitters collagen 6-related myopathy
p.Glu2327= Multiple submitters collagen 6-related myopathy
p.Gly1003= Multiple submitters Bethlem myopathy 1A
p.Gly1043= Multiple submitters dystonia 27
p.Gly1511= Multiple submitters dystonia 27
p.Gly2362= Multiple submitters collagen 6-related myopathy
p.His3071= Multiple submitters collagen 6-related myopathy
p.Ile1437= Multiple submitters dystonia 27
p.Leu2715= Multiple submitters collagen 6-related myopathy
p.Lys1088Gln Multiple submitters collagen 6-related myopathy
p.Lys2035= Multiple submitters Bethlem myopathy 1A
p.Lys2532= Multiple submitters collagen 6-related myopathy
p.Met2988Val Multiple submitters collagen 6-related myopathy
p.Phe2315= Multiple submitters collagen 6-related myopathy
p.Phe294= Multiple submitters collagen 6-related myopathy
p.Pro2218Leu Multiple submitters collagen 6-related myopathy
p.Pro2817= Multiple submitters collagen 6-related myopathy
p.Pro2912Leu Multiple submitters collagen 6-related myopathy
p.Ser1152= Multiple submitters Bethlem myopathy 1A
p.Ser2614= Multiple submitters collagen 6-related myopathy
p.Thr2940= Multiple submitters collagen 6-related myopathy
p.Thr3041= Multiple submitters collagen 6-related myopathy
p.Thr3069Ile Multiple submitters dystonia 27
p.Thr492Ser Multiple submitters collagen 6-related myopathy
p.Val256= Multiple submitters collagen 6-related myopathy
c.1313-303T>C Single submitter
c.1898-17dup Single submitter Bethlem myopathy 1A
c.2497+19C>T Single submitter Bethlem myopathy 1A
c.3071-286T>C Single submitter
c.4286-313A>C Single submitter
c.4286-322C>T Single submitter
c.6063+109del Single submitter
c.6063+12_6063+13dup Single submitter Bethlem myopathy 1A
c.6063+243G>A Single submitter
c.6064-252T>C Single submitter
c.6627+243G>T Single submitter
c.6690+238A>C Single submitter
c.6690+240A>G Single submitter
c.6691-282G>T Single submitter
c.6817-264G>A Single submitter
c.6880-228A>G Single submitter
c.6931-10dup Single submitter Bethlem myopathy 1A
c.6966+105_6966+106del Single submitter
c.6966+85_6966+86insT Single submitter
c.7029+271G>A Single submitter
c.7029+279G>A Single submitter
c.7093-243C>G Single submitter
c.7093-283_7093-263del Single submitter
c.7093-5dup Single submitter Bethlem myopathy 1A
c.7163-5del Single submitter Bethlem myopathy 1A
c.7766-263C>T Single submitter
c.8464+196T>A Single submitter
c.8464+242C>T Single submitter
c.8965+302G>A Single submitter
c.8966-19G>T Single submitter Bethlem myopathy 1A
c.8966-318C>A Single submitter
c.8966-321G>C Single submitter
c.92-5dup Single submitter Bethlem myopathy 1A
c.92-6_92-5del Single submitter Bethlem myopathy 1A
c.9229+245T>A Single submitter
c.9494-208A>T Single submitter
c.-115G>A Single submitter collagen 6-related myopathy
c.-147G>A Single submitter collagen 6-related myopathy
c.-164T>G Single submitter collagen 6-related myopathy
c.-30-210TATC[11] Single submitter
c.-30-210TATC[12] Single submitter
c.-30-210TATC[13] Single submitter
c.-30-210TATC[9] Single submitter
c.-30-235G>A Single submitter
c.-30-302CCTTC[3] Single submitter
c.*663T>G Single submitter collagen 6-related myopathy
p.Ala1298Val Single submitter Bethlem myopathy 1A
p.Ala1560Ser Single submitter Bethlem myopathy 1A
p.Ala2947Thr Single submitter Bethlem myopathy 1A
p.Arg1192= Single submitter Bethlem myopathy 1A
p.Arg1308Trp Single submitter Bethlem myopathy 1A
p.Arg1321= Single submitter Bethlem myopathy 1A
p.Arg2287Trp Single submitter Bethlem myopathy 1A
p.Arg2342Gln Single submitter Bethlem myopathy 1A
p.Arg3067Gly Single submitter Bethlem myopathy 1A
p.Arg341Cys Single submitter Bethlem myopathy 1A ⚠
p.Arg406= Single submitter Bethlem myopathy 1A
p.Arg533His Single submitter Bethlem myopathy 1A
p.Arg544Leu Single submitter Bethlem myopathy 1A
p.Cys2377= Single submitter Bethlem myopathy 1A
p.Gln1849His Single submitter Bethlem myopathy 1A
p.Gly2537= Single submitter Bethlem myopathy 1A
p.His1454Arg Single submitter Bethlem myopathy 1A
p.His742Gln Single submitter Bethlem myopathy 1A
p.Ile175Val Single submitter Bethlem myopathy 1A
p.Leu1216= Single submitter Bethlem myopathy 1A
p.Lys516= Single submitter Bethlem myopathy 1A
p.Phe1044= Single submitter Bethlem myopathy 1A
p.Phe531= Single submitter Bethlem myopathy 1A
p.Pro2882Leu Single submitter Bethlem myopathy 1A
p.Pro3014Leu Single submitter Bethlem myopathy 1A
p.Pro3017Thr Single submitter Bethlem myopathy 1A
p.Ser2492Leu Single submitter Bethlem myopathy 1A
p.Tyr727Cys Single submitter Bethlem myopathy 1A
p.Val1091= Single submitter Bethlem myopathy 1A
p.Val309= Single submitter Bethlem myopathy 1A

Benign/Likely benign 75

c.1313-17A>G Multiple submitters Bethlem myopathy 1A
c.3071-16G>A Multiple submitters Bethlem myopathy 1A
c.4285+17G>A Multiple submitters Bethlem myopathy 1A
c.4285+9G>A Multiple submitters collagen 6-related myopathy
c.6064-6C>T Multiple submitters Bethlem myopathy 1A
c.6310-18C>T Multiple submitters Bethlem myopathy 1A
c.6408+44A>G Multiple submitters
c.6592-27del Multiple submitters
c.6879+15C>T Multiple submitters collagen 6-related myopathy
c.6879+33C>T Multiple submitters
c.709+11C>T Multiple submitters Bethlem myopathy 1A
c.710-20dup Multiple submitters Bethlem myopathy 1A
c.7162+48G>A Multiple submitters
c.7668+21G>C Multiple submitters
c.8465-7dup Multiple submitters Bethlem myopathy 1A
c.91+11G>C Multiple submitters collagen 6-related myopathy
c.9329-4A>T Multiple submitters collagen 6-related myopathy
p.2878TTTKPVT[2] Multiple submitters Bethlem myopathy 1A
p.Ala1373Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala1532= Multiple submitters Bethlem myopathy 1A
p.Ala2018Val Multiple submitters Bethlem myopathy 1C
p.Ala2643Val Multiple submitters collagen 6-related myopathy
p.Ala2935Val Multiple submitters collagen 6-related myopathy
p.Ala2941Val Multiple submitters collagen 6-related myopathy
p.Ala587= Multiple submitters collagen 6-related myopathy
p.Ala596Ser Multiple submitters collagen 6-related myopathy
p.Arg1064Gln Multiple submitters collagen 6-related myopathy
p.Arg1395Trp Multiple submitters Ullrich congenital muscular dystrophy 1A
p.Arg1632Gln Multiple submitters Bethlem myopathy 1A
p.Arg2549Trp Multiple submitters Bethlem myopathy 1A
p.Arg3043His Multiple submitters collagen 6-related myopathy
p.Arg677His Multiple submitters collagen 6-related myopathy
p.Asn1018= Multiple submitters collagen 6-related myopathy
p.Asp1029= Multiple submitters collagen 6-related myopathy
p.Asp1090= Multiple submitters collagen 6-related myopathy
p.Asp1904= Multiple submitters Bethlem myopathy 1A
p.Asp410Asn Multiple submitters collagen 6-related myopathy
p.Asp491His Multiple submitters collagen 6-related myopathy
p.Asp563Gly Multiple submitters collagen 6-related myopathy
p.Cys3137= Multiple submitters collagen 6-related myopathy
p.Gln1561= Multiple submitters collagen 6-related myopathy
p.Glu2436= Multiple submitters collagen 6-related myopathy
p.Glu2453= Multiple submitters Bethlem myopathy 1A
p.Glu2782= Multiple submitters collagen 6-related myopathy
p.Gly1335= Multiple submitters Bethlem myopathy 1A
p.Gly735= Multiple submitters collagen 6-related myopathy
p.His2669= Multiple submitters collagen 6-related myopathy
p.Ile1369= Multiple submitters collagen 6-related myopathy
p.Ile2593= Multiple submitters collagen 6-related myopathy
p.Leu411Val Multiple submitters collagen 6-related myopathy
p.Leu416= Multiple submitters Bethlem myopathy 1A
p.Lys1754Arg Multiple submitters collagen 6-related myopathy
p.Lys3006Arg Multiple submitters collagen 6-related myopathy
p.Phe2795= Multiple submitters collagen 6-related myopathy
p.Phe597= Multiple submitters collagen 6-related myopathy
p.Pro1407= Multiple submitters Bethlem myopathy 1A
p.Pro1687Ser Multiple submitters Bethlem myopathy 1A
p.Pro2206= Multiple submitters collagen 6-related myopathy
p.Pro3082Arg Multiple submitters Bethlem myopathy 1A
p.Ser1344= Multiple submitters collagen 6-related myopathy
p.Ser1390Leu Multiple submitters collagen 6-related myopathy
p.Ser1870Asn Multiple submitters Bethlem myopathy 1A
p.Ser1940= Multiple submitters collagen 6-related myopathy
p.Ser3004= Multiple submitters Bethlem myopathy 1A
p.Ser821= Multiple submitters Bethlem myopathy 1A
p.Thr1140= Multiple submitters collagen 6-related myopathy
p.Thr3023= Multiple submitters collagen 6-related myopathy
p.Thr394= Multiple submitters Bethlem myopathy 1A
p.Thr98Ser Multiple submitters Bethlem myopathy 1A
p.Val1030Met Multiple submitters collagen 6-related myopathy
p.Val12Ile Multiple submitters Inborn genetic diseases
p.Val1364Met Multiple submitters Bethlem myopathy 1A
p.Val2820Ile Multiple submitters Bethlem myopathy 1A
p.Val2858Ile Multiple submitters collagen 6-related myopathy
p.Val342Met Multiple submitters collagen 6-related myopathy

Likely benign 1029

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

c.1312+218A>G Multiple submitters
c.1312+294G>A Multiple submitters
c.1313-71T>C Multiple submitters
c.1897+163C>G Multiple submitters
c.1898-109A>C Multiple submitters
c.5500+71C>T Multiple submitters
c.5838+18G>A Multiple submitters Bethlem myopathy 1A
c.5838+7G>C Multiple submitters Bethlem myopathy 1A
c.5839-9T>C Multiple submitters Bethlem myopathy 1A
c.5917+27A>G Multiple submitters
c.5917+92C>T Multiple submitters
c.6211-13T>C Multiple submitters Bethlem myopathy 1A
c.6283-15C>T Multiple submitters Bethlem myopathy 1A
c.6538-13T>C Multiple submitters Bethlem myopathy 1A
c.6690+12C>T Multiple submitters Bethlem myopathy 1A
c.6690+39T>C Multiple submitters
c.6754-37G>C Multiple submitters
c.6816+137G>A Multiple submitters
c.6879+13C>T Multiple submitters collagen 6-related myopathy
c.6880-58G>T Multiple submitters
c.6880-59C>T Multiple submitters
c.6967-15C>T Multiple submitters Bethlem myopathy 1A
c.709+13C>T Multiple submitters Bethlem myopathy 1A
c.709+96T>C Multiple submitters
c.7092+20T>C Multiple submitters Bethlem myopathy 1A
c.7093-18C>T Multiple submitters Bethlem myopathy 1A
c.7162+11G>A Multiple submitters Bethlem myopathy 1A
c.7163-44G>A Multiple submitters
c.7175-11A>G Multiple submitters Bethlem myopathy 1A
c.7668+297G>A Multiple submitters
c.8464+12G>A Multiple submitters Bethlem myopathy 1A
c.8465-18T>C Multiple submitters Bethlem myopathy 1A
c.8568-9T>C Multiple submitters Bethlem myopathy 1A
c.8965+62G>A Multiple submitters
c.92-71G>A Multiple submitters
c.9229+110A>G Multiple submitters
c.9230-173T>C Multiple submitters
c.9494-6G>A Multiple submitters Bethlem myopathy 1A
p.Ala1819= Multiple submitters Bethlem myopathy 1A
p.Ala2025= Multiple submitters Bethlem myopathy 1A
p.Ala2942= Multiple submitters Bethlem myopathy 1A
p.Ala2960del Multiple submitters Bethlem myopathy 1A
p.Ala878= Multiple submitters Bethlem myopathy 1A
p.Arg1915Gln Multiple submitters Inborn genetic diseases
p.Arg2097= Multiple submitters Bethlem myopathy 1A
p.Asn1372= Multiple submitters Bethlem myopathy 1A
p.Asn2159= Multiple submitters Bethlem myopathy 1A
p.Asp1689= Multiple submitters Bethlem myopathy 1A
p.Asp1704= Multiple submitters Bethlem myopathy 1A
p.Asp2012= Multiple submitters Bethlem myopathy 1A
p.Asp2058= Multiple submitters collagen 6-related myopathy
p.Asp208= Multiple submitters Bethlem myopathy 1A
p.Asp2185= Multiple submitters Bethlem myopathy 1A
p.Asp2296= Multiple submitters Bethlem myopathy 1A
p.Glu1431= Multiple submitters Bethlem myopathy 1A
p.Gly307Asp Multiple submitters Inborn genetic diseases
p.Gly619= Multiple submitters Bethlem myopathy 1A
p.His77= Multiple submitters Bethlem myopathy 1A
p.Ile1137= Multiple submitters Bethlem myopathy 1A
p.Ile1441= Multiple submitters Bethlem myopathy 1A
p.Ile477= Multiple submitters Bethlem myopathy 1A
p.Ile604= Multiple submitters Bethlem myopathy 1A
p.Leu2176= Multiple submitters Bethlem myopathy 1A
p.Leu2797= Multiple submitters Bethlem myopathy 1A
p.Leu841= Multiple submitters Bethlem myopathy 1A
p.Lys1418= Multiple submitters Bethlem myopathy 1A
p.Phe2769= Multiple submitters Bethlem myopathy 1A
p.Phe2786= Multiple submitters Bethlem myopathy 1A
p.Pro1513= Multiple submitters Bethlem myopathy 1A
p.Pro1687= Multiple submitters Bethlem myopathy 1A
p.Pro2075= Multiple submitters Bethlem myopathy 1A
p.Pro2748= Multiple submitters Bethlem myopathy 1A
p.Pro517= Multiple submitters collagen 6-related myopathy
p.Ser1755= Multiple submitters Bethlem myopathy 1A
p.Ser220= Multiple submitters Bethlem myopathy 1A
p.Ser2346= Multiple submitters Bethlem myopathy 1A
p.Ser2626= Multiple submitters Bethlem myopathy 1A
p.Ser2674= Multiple submitters Bethlem myopathy 1A
p.Ser3031= Multiple submitters Bethlem myopathy 1A
p.Thr118= Multiple submitters Bethlem myopathy 1A
p.Thr2878= Multiple submitters Bethlem myopathy 1A
p.Thr2891= Multiple submitters Bethlem myopathy 1A
p.Tyr1250= Multiple submitters Bethlem myopathy 1A
p.Val1138= Multiple submitters Bethlem myopathy 1A
p.Val1312= Multiple submitters Bethlem myopathy 1A
p.Val948= Multiple submitters Bethlem myopathy 1A
p.Val969= Multiple submitters Bethlem myopathy 1A
c.1312+12C>A Single submitter Bethlem myopathy 1A
c.1312+12C>G Single submitter Bethlem myopathy 1A
c.1312+19C>G Single submitter Bethlem myopathy 1A
c.1312+7A>G Single submitter Bethlem myopathy 1A
c.1313-11G>C Single submitter Bethlem myopathy 1A
c.1313-42G>A Single submitter
c.1897+11G>A Single submitter Bethlem myopathy 1A
c.1897+159G>T Single submitter
c.1897+16C>G Single submitter Bethlem myopathy 1A
c.1898-10T>C Single submitter Bethlem myopathy 1A
c.1898-17T>C Single submitter
c.1898-19T>C Single submitter Bethlem myopathy 1A
c.1898-56G>A Single submitter
c.2497+17G>T Single submitter Bethlem myopathy 1A
c.2497+20G>A Single submitter Bethlem myopathy 1A
c.2497+7C>A Single submitter Bethlem myopathy 1A
c.2497+8T>C Single submitter Bethlem myopathy 1A
c.2498-15del Single submitter Bethlem myopathy 1A
c.3070+10A>C Single submitter Bethlem myopathy 1A
c.3070+272T>C Single submitter
c.3070+4T>C Single submitter Bethlem myopathy 1A
c.3070+9G>C Single submitter
c.3071-11C>T Single submitter Bethlem myopathy 1A
c.3071-13G>C Single submitter Bethlem myopathy 1A
c.3071-17G>A Single submitter Bethlem myopathy 1A
c.3071-206A>T Single submitter
c.3071-21_3071-18dup Single submitter Bethlem myopathy 1A
c.3071-6T>C Single submitter Bethlem myopathy 1A
c.3071-7C>G Single submitter Bethlem myopathy 1A
c.3071-7C>T Single submitter Bethlem myopathy 1A
c.3071-8C>G Single submitter Bethlem myopathy 1A
c.3679+10G>A Single submitter Bethlem myopathy 1A
c.3679+13C>T Single submitter Bethlem myopathy 1A
c.3679+14T>G Single submitter Bethlem myopathy 1A
c.3679+17_3679+18del Single submitter Bethlem myopathy 1A
c.3679+17T>G Single submitter Bethlem myopathy 1A
c.3679+18T>C Single submitter Bethlem myopathy 1A
c.3679+9G>A Single submitter Bethlem myopathy 1A
c.3680-18C>G Single submitter Bethlem myopathy 1A
c.3680-18C>T Single submitter Bethlem myopathy 1A
c.3680-20T>C Single submitter Bethlem myopathy 1A
c.3680-225A>T Single submitter
c.3680-230T>C Single submitter
c.3680-7T>G Single submitter Bethlem myopathy 1A
c.4285+11G>A Single submitter Bethlem myopathy 1A
c.4285+12G>T Single submitter Bethlem myopathy 1A
c.4285+16C>T Single submitter Bethlem myopathy 1A
c.4285+41C>T Single submitter
c.4285+7T>C Single submitter Bethlem myopathy 1A
c.4286-261C>A Single submitter
c.4286-262A>G Single submitter
c.4286-4G>A Single submitter Bethlem myopathy 1A
c.4900+9C>A Single submitter Bethlem myopathy 1A
c.4901-113_4901-112del Single submitter
c.4901-24T>A Single submitter
c.4901-255G>A Single submitter
c.4901-321T>C Single submitter
c.4901-5T>A Single submitter Bethlem myopathy 1A
c.4901-5T>G Single submitter Bethlem myopathy 1A
c.4901-9C>G Single submitter Bethlem myopathy 1A
c.5500+14T>A Single submitter Bethlem myopathy 1A
c.5500+15G>A Single submitter Bethlem myopathy 1A
c.5500+17G>T Single submitter Bethlem myopathy 1A
c.5500+19A>G Single submitter Bethlem myopathy 1A
c.5500+20T>C Single submitter Bethlem myopathy 1A
c.5500+22T>G Single submitter
c.5500+231T>G Single submitter
c.5500+8C>G Single submitter Bethlem myopathy 1A
c.5501-16C>A Single submitter Bethlem myopathy 1A
c.5501-17G>A Single submitter Bethlem myopathy 1A
c.5501-17G>T Single submitter Bethlem myopathy 1A
c.5501-7T>G Single submitter Bethlem myopathy 1A
c.5501-9C>A Single submitter Bethlem myopathy 1A
c.5839-103G>A Single submitter
c.5917+109G>A Single submitter
c.5918-11T>C Single submitter Bethlem myopathy 1A
c.5918-17T>C Single submitter Bethlem myopathy 1A
c.5918-293G>A Single submitter
c.5918-7T>G Single submitter Bethlem myopathy 1A
c.6063+13_6063+14insTA Single submitter Bethlem myopathy 1A
c.6063+13T>A Single submitter Bethlem myopathy 1A
c.6063+14_6063+15insG Single submitter Bethlem myopathy 1A
c.6063+14A>T Single submitter Bethlem myopathy 1A
c.6063+160C>T Single submitter
c.6064-11C>T Single submitter Bethlem myopathy 1A
c.6064-16C>A Single submitter Bethlem myopathy 1A
c.6064-211A>G Single submitter
c.6064-45G>T Single submitter
c.6064-4G>A Single submitter Bethlem myopathy 1A
c.6064-6C>G Single submitter Bethlem myopathy 1A
c.6064-7T>G Single submitter Bethlem myopathy 1A
c.6064-8T>G Single submitter Bethlem myopathy 1A
c.6156+16C>G Single submitter
c.6156+16C>T Single submitter Bethlem myopathy 1A
c.6157-16G>C Single submitter Bethlem myopathy 1A
c.6157-17C>T Single submitter Bethlem myopathy 1A
c.6157-20A>G Single submitter Bethlem myopathy 1A
c.6210+13T>C Single submitter Bethlem myopathy 1A
c.6210+15T>C Single submitter Bethlem myopathy 1A
c.6211-17T>G Single submitter Bethlem myopathy 1A
c.6211-9T>C Single submitter Bethlem myopathy 1A
c.6282+143G>A Single submitter
c.6282+20G>A Single submitter Bethlem myopathy 1A
c.6282+7C>T Single submitter Bethlem myopathy 1A
c.6282+8G>A Single submitter Bethlem myopathy 1A
c.6282+9T>C Single submitter Bethlem myopathy 1A
c.6283-14G>A Single submitter Bethlem myopathy 1A
c.6283-14G>T Single submitter Bethlem myopathy 1A
c.6283-15C>G Single submitter Bethlem myopathy 1A
c.6283-17A>G Single submitter Bethlem myopathy 1A
c.6283-20C>T Single submitter Bethlem myopathy 1A
c.6309+8A>G Single submitter Bethlem myopathy 1A
c.6310-17G>A Single submitter Bethlem myopathy 1A
c.6310-17G>T Single submitter Bethlem myopathy 1A
c.6354+12T>A Single submitter Bethlem myopathy 1A
c.6354+16C>T Single submitter Bethlem myopathy 1A
c.6354+18A>C Single submitter Bethlem myopathy 1A
c.6354+19A>C Single submitter Bethlem myopathy 1A
c.6355-10T>C Single submitter Bethlem myopathy 1A
c.6355-4G>T Single submitter Bethlem myopathy 1A
c.6355-6del Single submitter Bethlem myopathy 1A
c.6355-6T>C Single submitter Bethlem myopathy 1A
c.6408+16C>T Single submitter Bethlem myopathy 1A
c.6408+17G>A Single submitter Bethlem myopathy 1A
c.6409-13G>A Single submitter Bethlem myopathy 1A
c.6409-15G>A Single submitter
c.6409-19A>G Single submitter Bethlem myopathy 1A
c.6409-8T>C Single submitter Bethlem myopathy 1A
c.6471+17T>C Single submitter Bethlem myopathy 1A
c.6471+20C>T Single submitter Bethlem myopathy 1A
c.6471+263T>C Single submitter
c.6471+8T>C Single submitter Bethlem myopathy 1A
c.6472-13A>G Single submitter Bethlem myopathy 1A
c.6472-15C>G Single submitter Bethlem myopathy 1A
c.6472-15C>T Single submitter Bethlem myopathy 1A
c.6472-257A>G Single submitter
c.6472-7C>G Single submitter Bethlem myopathy 1A
c.6537+11G>A Single submitter
c.6537+15A>G Single submitter Bethlem myopathy 1A
c.6537+93C>T Single submitter
c.6538-12T>C Single submitter Bethlem myopathy 1A
c.6538-20G>C Single submitter Bethlem myopathy 1A
c.6538-5A>C Single submitter Bethlem myopathy 1A
c.6538-84T>G Single submitter
c.6591+15G>T Single submitter Bethlem myopathy 1A
c.6591+7G>A Single submitter Bethlem myopathy 1A
c.6591+8C>T Single submitter Bethlem myopathy 1A
c.6592-11T>C Single submitter Bethlem myopathy 1A
c.6592-15del Single submitter Bethlem myopathy 1A
c.6592-19_6592-10del Single submitter Bethlem myopathy 1A
c.6592-319G>T Single submitter
c.6592-4A>G Single submitter Bethlem myopathy 1A
c.6592-8T>C Single submitter Bethlem myopathy 1A
c.6627+15G>A Single submitter Bethlem myopathy 1A
c.6627+18C>A Single submitter Bethlem myopathy 1A
c.6627+19C>A Single submitter Bethlem myopathy 1A
c.6627+19C>T Single submitter
c.6627+9C>T Single submitter Bethlem myopathy 1A
c.6690+11C>T Single submitter Bethlem myopathy 1A
c.6690+13G>A Single submitter Bethlem myopathy 1A
c.6690+177T>G Single submitter
c.6691-10C>T Single submitter Bethlem myopathy 1A
c.6691-16T>G Single submitter Bethlem myopathy 1A
c.6691-8T>G Single submitter Bethlem myopathy 1A
c.6753+102C>G Single submitter
c.6753+15A>G Single submitter Bethlem myopathy 1A
c.6753+18C>G Single submitter Bethlem myopathy 1A
c.6754-12C>T Single submitter Bethlem myopathy 1A
c.6754-15C>T Single submitter Bethlem myopathy 1A
c.6754-17C>T Single submitter
c.6754-18C>G Single submitter Bethlem myopathy 1A
c.6754-18C>T Single submitter Bethlem myopathy 1A
c.6754-20T>C Single submitter Bethlem myopathy 1A
c.6816+8T>G Single submitter Bethlem myopathy 1A
c.6817-9C>G Single submitter Bethlem myopathy 1A
c.6879+12G>A Single submitter Bethlem myopathy 1A
c.6879+13C>A Single submitter Bethlem myopathy 1A
c.6879+14G>C Single submitter Bethlem myopathy 1A
c.6879+14G>T Single submitter Bethlem myopathy 1A
c.6879+16G>A Single submitter Bethlem myopathy 1A
c.6879+16G>T Single submitter Bethlem myopathy 1A
c.6879+18T>C Single submitter Bethlem myopathy 1A
c.6880-13T>G Single submitter Bethlem myopathy 1A
c.6880-20C>A Single submitter Bethlem myopathy 1A
c.6880-212G>A Single submitter
c.6880-5C>G Single submitter Bethlem myopathy 1A
c.6880-6T>C Single submitter Bethlem myopathy 1A
c.6880-7C>A Single submitter Bethlem myopathy 1A
c.6880-8A>G Single submitter Bethlem myopathy 1A
c.6930+6dup Single submitter Bethlem myopathy 1A
c.6931-19A>G Single submitter Bethlem myopathy 1A
c.6931-19A>T Single submitter Bethlem myopathy 1A
c.6931-51G>C Single submitter
c.6931-5T>C Single submitter Bethlem myopathy 1A
c.6966+11C>T Single submitter Bethlem myopathy 1A
c.6966+17C>T Single submitter Bethlem myopathy 1A
c.6966+18G>A Single submitter Bethlem myopathy 1A
c.6966+19G>T Single submitter Bethlem myopathy 1A
c.6966+9T>A Single submitter Bethlem myopathy 1A
c.6967-10T>C Single submitter Bethlem myopathy 1A
c.6967-12C>T Single submitter Bethlem myopathy 1A
c.6967-15C>G Single submitter Bethlem myopathy 1A
c.6967-18T>A Single submitter Bethlem myopathy 1A
c.7029+11G>A Single submitter Bethlem myopathy 1A
c.7029+13_7029+44del Single submitter Bethlem myopathy 1A
c.7029+19T>C Single submitter Bethlem myopathy 1A
c.7029+20G>T Single submitter Bethlem myopathy 1A
c.7029+256G>A Single submitter
c.7030-14T>C Single submitter
c.7030-17_7030-14del Single submitter Bethlem myopathy 1A
c.7030-20G>A Single submitter Bethlem myopathy 1A
c.709+11C>G Single submitter Bethlem myopathy 1A
c.709+12G>A Single submitter Bethlem myopathy 1A

Uncertain significance 1690

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

c.1897+3A>G Multiple submitters Bethlem myopathy 1A
c.5838+5G>A Multiple submitters Bethlem myopathy 1A
c.6063+5dup Multiple submitters Bethlem myopathy 1A
c.6211-4A>G Multiple submitters Bethlem myopathy 1A
c.6211-9del Multiple submitters Bethlem myopathy 1A
c.6283-28A>G Multiple submitters Bethlem myopathy 1A
c.6309+10C>G Multiple submitters Bethlem myopathy 1A
c.6309+3A>T Multiple submitters Bethlem myopathy 1A
c.6354+5G>A Multiple submitters Bethlem myopathy 1A
c.6627+3G>A Multiple submitters Bethlem myopathy 1A
c.6966+4A>C Multiple submitters Bethlem myopathy 1A
c.7029+3A>G Multiple submitters Bethlem myopathy 1A
c.709+4A>G Multiple submitters Ullrich congenital muscular dystrophy 1C
c.7669-3C>T Multiple submitters Bethlem myopathy 1A
c.8966-3C>A Multiple submitters Bethlem myopathy 1C
c.9328+3G>A Multiple submitters Bethlem myopathy 1A
c.9494-2A>G Multiple submitters Bethlem myopathy 1A
p.2875KPVTTT[1] Multiple submitters dystonia 27
p.Ala1020Gly Multiple submitters ⚠
p.Ala1160Thr Multiple submitters Bethlem myopathy 1A
p.Ala1298Thr Multiple submitters Inborn genetic diseases
p.Ala1315Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ala1356Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ala1365Thr Multiple submitters Bethlem myopathy 1A
p.Ala1370Ser Multiple submitters Bethlem myopathy 1A
p.Ala1519Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala1617Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Ala163Val Multiple submitters collagen 6-related myopathy
p.Ala168Val Multiple submitters Bethlem myopathy 1A
p.Ala1705Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala1790Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ala1794Thr Multiple submitters Inborn genetic diseases
p.Ala1864Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Ala1864Thr Multiple submitters Ullrich congenital muscular dystrophy 1A ⚠
p.Ala1965Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala2018Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Ala2257Ser Multiple submitters COL6A3-related disorder ⚠
p.Ala2561Val Multiple submitters Bethlem myopathy 1A
p.Ala25Asp Multiple submitters Bethlem myopathy 1A
p.Ala2643Ser Multiple submitters COL6A3-related disorder ⚠
p.Ala2665Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala2755Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2908Gly Multiple submitters ⚠
p.Ala2928Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala2957Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala2960dup Multiple submitters Bethlem myopathy 1A
p.Ala2964Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala3027Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ala325Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala383Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala383Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Ala528Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ala606Pro Multiple submitters Inborn genetic diseases
p.Ala728Val Multiple submitters Bethlem myopathy 1A
p.Ala830Thr Multiple submitters ⚠
p.Ala876Val Multiple submitters Bethlem myopathy 1A
p.Ala878Gly Multiple submitters COL6A3-related disorder
p.Ala978Ser Multiple submitters Bethlem myopathy 1A
p.Arg1192Cys Multiple submitters Inborn genetic diseases
p.Arg1270Gln Multiple submitters Inborn genetic diseases
p.Arg1331Cys Multiple submitters Bethlem myopathy 1A ⚠
p.Arg1505Leu Multiple submitters Bethlem myopathy 1A
p.Arg1535His Multiple submitters Bethlem myopathy 1A ⚠
p.Arg1564Gly Multiple submitters Bethlem myopathy 1A ⚠
p.Arg1591Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Arg1660Cys Multiple submitters Bethlem myopathy 1A
p.Arg1660His Multiple submitters Inborn genetic diseases ⚠
p.Arg1738His Multiple submitters Bethlem myopathy 1A ⚠
p.Arg1742Gln Multiple submitters Bethlem myopathy 1A
p.Arg1769Trp Multiple submitters Bethlem myopathy 1A
p.Arg1798Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1970Cys Multiple submitters Bethlem myopathy 1A ⚠
p.Arg1975Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1975Leu Multiple submitters collagen 6-related myopathy ⚠
p.Arg1984Gln Multiple submitters Bethlem myopathy 1A ⚠
p.Arg1998Gln Multiple submitters collagen 6-related myopathy
p.Arg2043Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2073Cys Multiple submitters Bethlem myopathy 1A ⚠
p.Arg2097Gln Multiple submitters Bethlem myopathy 1A
p.Arg2136Ser Multiple submitters Ullrich congenital muscular dystrophy 1A ⚠
p.Arg2142Gln Multiple submitters Bethlem myopathy 1A
p.Arg2154Gln Multiple submitters Bethlem myopathy 1A
p.Arg2154Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Arg2263Gln Multiple submitters Bethlem myopathy 1A
p.Arg2290Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Arg2306His Multiple submitters Bethlem myopathy 1A
p.Arg2307Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg2422Gln Multiple submitters Inborn genetic diseases
p.Arg2444Gln Multiple submitters Bethlem myopathy 1A ⚠
p.Arg2444Trp Multiple submitters Bethlem myopathy 1A ⚠
p.Arg2459Trp Multiple submitters Bethlem myopathy 1C
p.Arg2501Cys Multiple submitters Bethlem myopathy 1A ⚠
p.Arg2713Trp Multiple submitters Bethlem myopathy 1A
p.Arg2811Cys Multiple submitters Bethlem myopathy 1A ⚠
p.Arg2811His Multiple submitters Bethlem myopathy 1A ⚠
p.Arg2833Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Arg425Ser Multiple submitters Inborn genetic diseases
p.Arg677Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Arg768Pro Multiple submitters Bethlem myopathy 1A
p.Arg836Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Arg856Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg874Gln Multiple submitters Bethlem myopathy 1A ⚠
p.Arg925Met Multiple submitters Bethlem myopathy 1A
p.Arg935Trp Multiple submitters collagen 6-related myopathy ⚠
p.Arg955Cys Multiple submitters Bethlem myopathy 1A
p.Asn108Asp Multiple submitters Bethlem myopathy 1A
p.Asn1107Asp Multiple submitters Bethlem myopathy 1A
p.Asn1287Tyr Multiple submitters Bethlem myopathy 1A
p.Asn1577Asp Multiple submitters Bethlem myopathy 1A
p.Asn1780Ser Multiple submitters Bethlem myopathy 1A
p.Asn1792Asp Multiple submitters Bethlem myopathy 1A ⚠
p.Asn2324Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn2475Lys Multiple submitters ⚠
p.Asn2732Lys Multiple submitters Bethlem myopathy 1A
p.Asn2860Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Asn584Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Asp1142Asn Multiple submitters Inborn genetic diseases
p.Asp1239Asn Multiple submitters COL6A3-related disorder ⚠
p.Asp1263Asn Multiple submitters Inborn genetic diseases
p.Asp1278Asn Multiple submitters collagen 6-related myopathy ⚠
p.Asp1279Glu Multiple submitters Bethlem myopathy 1A
p.Asp1442Asn Multiple submitters Bethlem myopathy 1A ⚠
p.Asp1538Ala Multiple submitters Bethlem myopathy 1A
p.Asp1579Asn Multiple submitters Bethlem myopathy 1A
p.Asp1653Tyr Multiple submitters Bethlem myopathy 1A
p.Asp1653Val Multiple submitters Bethlem myopathy 1A ⚠
p.Asp1667Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1689Glu Multiple submitters Inborn genetic diseases
p.Asp1695Glu Multiple submitters Bethlem myopathy 1A
p.Asp1782Asn Multiple submitters Bethlem myopathy 1A
p.Asp1818Asn Multiple submitters Bethlem myopathy 1A
p.Asp1943Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp228Tyr Multiple submitters Bethlem myopathy 1A
p.Asp2357Asn Multiple submitters Bethlem myopathy 1A
p.Asp2375Asn Multiple submitters Inborn genetic diseases
p.Asp2408Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp242Asn Multiple submitters Bethlem myopathy 1A ⚠
p.Asp2462Glu Multiple submitters Bethlem myopathy 1A
p.Asp2589Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Asp2617Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Asp2619Asn Multiple submitters COL6A3-related disorder ⚠
p.Asp263His Multiple submitters Inborn genetic diseases ⚠
p.Asp2691Glu Multiple submitters
p.Asp2792Gly Multiple submitters Bethlem myopathy 1A
p.Asp2831Tyr Multiple submitters Bethlem myopathy 1A ⚠
p.Asp288His Multiple submitters Inborn genetic diseases
p.Asp395Asn Multiple submitters Bethlem myopathy 1A ⚠
p.Asp445Val Multiple submitters dystonia 27 ⚠
p.Asp480_Gln483del Multiple submitters Bethlem myopathy 1A
p.Asp588Asn Multiple submitters dystonia 27
p.Asp882Asn Multiple submitters Bethlem myopathy 1A
p.Cys2587Gly Multiple submitters Bethlem myopathy 1A
p.Cys775Phe Multiple submitters Inborn genetic diseases
p.Gln1207Lys Multiple submitters Bethlem myopathy 1A
p.Gln1361His Multiple submitters Bethlem myopathy 1A
p.Gln1682Arg Multiple submitters Bethlem myopathy 1A ⚠
p.Gln1741Leu Multiple submitters Inborn genetic diseases
p.Gln2484Pro Multiple submitters Inborn genetic diseases
p.Gln2659Arg Multiple submitters Bethlem myopathy 1A
p.Gln278Glu Multiple submitters Bethlem myopathy 1A
p.Gln2840Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln304Arg Multiple submitters Ullrich congenital muscular dystrophy 1A ⚠
p.Gln965His Multiple submitters Bethlem myopathy 1A
p.Glu1038Lys Multiple submitters Inborn genetic diseases
p.Glu1607Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Glu1690Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1807Val Multiple submitters collagen 6-related myopathy
p.Glu2026Lys Multiple submitters Bethlem myopathy 1A
p.Glu2057Lys Multiple submitters Bethlem myopathy 1A
p.Glu2312Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Glu2327Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Glu2453Lys Multiple submitters Bethlem myopathy 1A
p.Glu3118Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu388Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu388Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu547Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Glu593Lys Multiple submitters Bethlem myopathy 1A ⚠
p.Glu785Ala Multiple submitters ⚠
p.Glu826Lys Multiple submitters Bethlem myopathy 1A
p.Gly1039Ser Multiple submitters Bethlem myopathy 1A
p.Gly1043Ser Multiple submitters Inborn genetic diseases
p.Gly1131Val Multiple submitters Bethlem myopathy 1A
p.Gly1158Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Gly1159Arg Multiple submitters Bethlem myopathy 1A
p.Gly1168Arg Multiple submitters Ullrich congenital muscular dystrophy 1A
p.Gly1195Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Gly121Val Multiple submitters Bethlem myopathy 1A ⚠
p.Gly1229Ser Multiple submitters Ullrich congenital muscular dystrophy 1A ⚠
p.Gly1335Ala Multiple submitters Bethlem myopathy 1A ⚠
p.Gly135Arg Multiple submitters Bethlem myopathy 1A ⚠
p.Gly139Val Multiple submitters Bethlem myopathy 1A ⚠
p.Gly1469Ser Multiple submitters Inborn genetic diseases
p.Gly1510Val Multiple submitters Bethlem myopathy 1A ⚠
p.Gly1713Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Gly1827Ser Multiple submitters Bethlem myopathy 1A
p.Gly1845Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1880Ala Multiple submitters dystonia 27 ⚠
p.Gly2031Glu Multiple submitters Bethlem myopathy 1A
p.Gly2174Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly2177Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Gly2207Arg Multiple submitters Bethlem myopathy 1A ⚠
p.Gly2254Arg Multiple submitters Bethlem myopathy 1A
p.Gly2276Arg Multiple submitters Bethlem myopathy 1A ⚠
p.Gly2291Trp Multiple submitters Bethlem myopathy 1A ⚠
p.Gly2300Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Gly2344Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Gly2368Asp Multiple submitters Bethlem myopathy 1A ⚠
p.Gly2412Glu Multiple submitters Bethlem myopathy 1A
p.Gly2505Val Multiple submitters Bethlem myopathy 1A
p.Gly2563Arg Multiple submitters Bethlem myopathy 1A
p.Gly2813Arg Multiple submitters Bethlem myopathy 1A
p.Gly2841Glu Multiple submitters Bethlem myopathy 1A
p.Gly3153Val Multiple submitters Bethlem myopathy 1A ⚠
p.Gly323Ser Multiple submitters spinocerebellar ataxia type 13 ⚠
p.Gly520Ala Multiple submitters Bethlem myopathy 1A
p.Gly526Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Gly679Cys Multiple submitters Bethlem myopathy 1A ⚠
p.Gly720Val Multiple submitters Bethlem myopathy 1A ⚠
p.Gly950Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly967Arg Multiple submitters Bethlem myopathy 1A ⚠
p.His129Arg Multiple submitters Bethlem myopathy 1A ⚠
p.His2564Leu Multiple submitters collagen 6-related myopathy ⚠
p.His2660Arg Multiple submitters Bethlem myopathy 1A
p.His3028Tyr Multiple submitters Bethlem myopathy 1A ⚠
p.Ile1381Phe Multiple submitters Bethlem myopathy 1A ⚠
p.Ile1563Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1609Asn Multiple submitters Inborn genetic diseases
p.Ile1648Val Multiple submitters Bethlem myopathy 1A
p.Ile1676Met Multiple submitters Bethlem myopathy 1A
p.Ile2024Thr Multiple submitters Inborn genetic diseases
p.Ile2247Val Multiple submitters Bethlem myopathy 1A
p.Ile235Thr Multiple submitters Bethlem myopathy 1A
p.Ile2428Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ile2552Asn Multiple submitters ⚠
p.Ile2557Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile2590Phe Multiple submitters Inborn genetic diseases
p.Ile2590Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ile2719Thr Multiple submitters Bethlem myopathy 1A
p.Ile2738Phe Multiple submitters Bethlem myopathy 1A
p.Ile2900Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Ile322Asn Multiple submitters Bethlem myopathy 1A
p.Ile353Val Multiple submitters Inborn genetic diseases ⚠
p.Ile41del Multiple submitters Bethlem myopathy 1A
p.Ile641Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile671Val Multiple submitters Bethlem myopathy 1A ⚠
p.Ile702Thr Multiple submitters Bethlem myopathy 1A
p.Leu1047Phe Multiple submitters ⚠
p.Leu1254Phe Multiple submitters Bethlem myopathy 1A ⚠
p.Leu1340Pro Multiple submitters ⚠
p.Leu1400Gln Multiple submitters Bethlem myopathy 1A ⚠
p.Leu1693Pro Multiple submitters Bethlem myopathy 1A ⚠
p.Leu1739Met Multiple submitters Bethlem myopathy 1A ⚠
p.Leu1866Ser Multiple submitters Bethlem myopathy 1A
p.Leu2533Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu2541Phe Multiple submitters Bethlem myopathy 1A
p.Leu2582Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu268Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu2760Val Multiple submitters ⚠
p.Leu3097Pro Multiple submitters Bethlem myopathy 1A
p.Leu43Pro Multiple submitters Bethlem myopathy 1A ⚠
p.Leu57Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu746Ile Multiple submitters dystonia 27
p.Leu900Val Multiple submitters Bethlem myopathy 1A ⚠
p.Leu941Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys1014Gln Multiple submitters Bethlem myopathy 1A
p.Lys1418Arg Multiple submitters Bethlem myopathy 1A ⚠
p.Lys1418del Multiple submitters Bethlem myopathy 1A
p.Lys1418Glu Multiple submitters Bethlem myopathy 1A ⚠
p.Lys1472Ile Multiple submitters Bethlem myopathy 1A
p.Lys166Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys1699Gln Multiple submitters Bethlem myopathy 1A ⚠
p.Lys1772Arg Multiple submitters Bethlem myopathy 1A
p.Lys2367Asn Multiple submitters Inborn genetic diseases
p.Lys2737Gln Multiple submitters Bethlem myopathy 1A
p.Lys3151Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys505Glu Multiple submitters Bethlem myopathy 1A
p.Lys505Ile Multiple submitters Bethlem myopathy 1A
p.Lys869Gln Multiple submitters Inborn genetic diseases ⚠
p.Met1086Val Multiple submitters Bethlem myopathy 1A ⚠
p.Met1820Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Met2001Val Multiple submitters Bethlem myopathy 1A ⚠
p.Met2508Ile Multiple submitters Bethlem myopathy 1A
p.Met2810Leu Multiple submitters Inborn genetic diseases ⚠
p.Met293Thr Multiple submitters Bethlem myopathy 1A ⚠
p.Phe1080Ile Multiple submitters Bethlem myopathy 1A ⚠
p.Phe1599Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Phe2493Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Phe2542Leu Multiple submitters Bethlem myopathy 1A
p.Phe2633Cys Multiple submitters Bethlem myopathy 1A ⚠
p.Phe2795Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Phe2839Ile Multiple submitters Bethlem myopathy 1A ⚠
p.Phe3140Val Multiple submitters Bethlem myopathy 1A ⚠
p.Phe42Val Multiple submitters Bethlem myopathy 1A ⚠
p.Phe580Leu Multiple submitters Bethlem myopathy 1A
p.Pro1023Ser Multiple submitters Bethlem myopathy 1A ⚠
p.Pro1104Leu Multiple submitters Bethlem myopathy 1A
p.Pro1222Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1224Leu Multiple submitters Bethlem myopathy 1A ⚠
p.Pro1246Leu Multiple submitters Bethlem myopathy 1A
p.Pro1337Leu Multiple submitters Bethlem myopathy 1A ⚠