COL6A6 — 426 ClinVar variants
All ClinVar germline COL6A6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 362 flagged for review →
1 Likely pathogenic · 2 Conflicting · 21 Benign · 1 Benign/Likely benign · 42 Likely benign · 359 Uncertain significance
Full COL6A6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 362
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 222
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 222
- COL6A6 p.Ala1041Val Uncertain significance Single submitter
- COL6A6 p.Ala1124Thr Uncertain significance Single submitter
- COL6A6 p.Ala1179Val Uncertain significance Single submitter
- COL6A6 p.Ala121Thr Uncertain significance Single submitter
- COL6A6 p.Ala1327Asp Uncertain significance Single submitter
- COL6A6 p.Ala1424Pro Uncertain significance Single submitter
- COL6A6 p.Ala1504Thr Uncertain significance Single submitter
- COL6A6 p.Ala1590Gly Uncertain significance Single submitter
- COL6A6 p.Ala178Pro Uncertain significance Single submitter
- COL6A6 p.Ala1809Ser Uncertain significance Single submitter
- COL6A6 p.Ala1818Gly Uncertain significance Single submitter
- COL6A6 p.Ala1876Val Uncertain significance Single submitter
- COL6A6 p.Ala1932Thr Uncertain significance Single submitter
- COL6A6 p.Ala1979Thr Uncertain significance Single submitter
- COL6A6 p.Ala258Ser Uncertain significance Single submitter
- COL6A6 p.Ala398Val Uncertain significance Single submitter
- COL6A6 p.Ala67Val Uncertain significance Single submitter
- COL6A6 p.Ala902Asp Uncertain significance Single submitter
- COL6A6 p.Arg1128Gly Uncertain significance Single submitter
- COL6A6 p.Arg1557Lys Uncertain significance Single submitter
- COL6A6 p.Arg1660Leu Uncertain significance Single submitter
- COL6A6 p.Arg1790Gln Uncertain significance Single submitter
- COL6A6 p.Arg1835Ile Uncertain significance Single submitter
- COL6A6 p.Arg1840Lys Uncertain significance Single submitter
- COL6A6 p.Arg1938Gln Uncertain significance Single submitter
- COL6A6 p.Arg1974Gln Uncertain significance Single submitter
- COL6A6 p.Arg2042Cys Uncertain significance Single submitter
- COL6A6 p.Arg2146Gln Uncertain significance Single submitter
- COL6A6 p.Arg2195Gln Uncertain significance Single submitter
- COL6A6 p.Arg2231Ser Uncertain significance Single submitter
- COL6A6 p.Arg323Gly Uncertain significance Single submitter
- COL6A6 p.Arg342Gln Uncertain significance Single submitter
- COL6A6 p.Arg408Gln Uncertain significance Single submitter
- COL6A6 p.Arg566Gln Uncertain significance Single submitter
- COL6A6 p.Arg589Lys Uncertain significance Single submitter
- COL6A6 p.Arg658Gln Uncertain significance Single submitter
- COL6A6 p.Arg719Trp Uncertain significance Single submitter
- COL6A6 p.Arg746Trp Uncertain significance Single submitter
- COL6A6 p.Arg804Gln Uncertain significance Single submitter
- COL6A6 p.Asn1225Ser Uncertain significance Single submitter
- COL6A6 p.Asn1277Ser Uncertain significance Single submitter
- COL6A6 p.Asn1450His Uncertain significance Single submitter
- COL6A6 p.Asn2023Ser Uncertain significance Single submitter
- COL6A6 p.Asn647Ser Uncertain significance Single submitter
- COL6A6 p.Asn930Ser Uncertain significance Single submitter
- COL6A6 p.Asp1029Asn Uncertain significance Single submitter
- COL6A6 p.Asp1093His Uncertain significance Single submitter
- COL6A6 p.Asp1111Glu Uncertain significance Single submitter
- COL6A6 p.Asp1131Asn Uncertain significance Single submitter
- COL6A6 p.Asp1162Asn Uncertain significance Single submitter
- COL6A6 p.Asp1187Val Uncertain significance Single submitter
- COL6A6 p.Asp1307Val Uncertain significance Single submitter
- COL6A6 p.Asp1334Gly Uncertain significance Single submitter
- COL6A6 p.Asp1501Gly Uncertain significance Single submitter
- COL6A6 p.Asp1928Asn Uncertain significance Single submitter
- COL6A6 p.Asp2131Glu Uncertain significance Single submitter
- COL6A6 p.Asp235Gly Uncertain significance Single submitter
- COL6A6 p.Asp246Val Uncertain significance Single submitter
- COL6A6 p.Asp36Gly Uncertain significance Single submitter
- COL6A6 p.Asp372Glu Uncertain significance Single submitter
- COL6A6 p.Asp436Ala Uncertain significance Single submitter
- COL6A6 p.Asp451Glu Uncertain significance Single submitter
- COL6A6 p.Asp821Gly Uncertain significance Single submitter
- COL6A6 p.Asp949Asn Uncertain significance Single submitter
- COL6A6 p.Asp997Gly Uncertain significance Single submitter
- COL6A6 p.Cys1176Arg Uncertain significance Single submitter
- COL6A6 p.Cys1383Trp Uncertain significance Single submitter
- COL6A6 p.Cys1942Tyr Uncertain significance Single submitter
- COL6A6 p.Cys611Ser Uncertain significance Single submitter
- COL6A6 p.Cys994Ser Uncertain significance Single submitter
- COL6A6 p.Gln1113Arg Uncertain significance Single submitter
- COL6A6 p.Gln1207Glu Uncertain significance Single submitter
- COL6A6 p.Gln1236Glu Uncertain significance Single submitter
- COL6A6 p.Gln1472Glu Uncertain significance Single submitter
- COL6A6 p.Gln1736His Uncertain significance Single submitter
- COL6A6 p.Gln1954His Uncertain significance Single submitter
- COL6A6 p.Gln2054His Uncertain significance Single submitter
- COL6A6 p.Gln330Arg Uncertain significance Single submitter
- COL6A6 p.Gln374Glu Uncertain significance Single submitter
- COL6A6 p.Gln577Lys Uncertain significance Single submitter
- COL6A6 p.Gln608Leu Uncertain significance Single submitter
- COL6A6 p.Gln653Pro Uncertain significance Single submitter
- COL6A6 p.Gln691Lys Uncertain significance Single submitter
- COL6A6 p.Gln697Arg Uncertain significance Single submitter
- COL6A6 p.Glu1181Lys Uncertain significance Single submitter
- COL6A6 p.Glu1255Asp Uncertain significance Single submitter
- COL6A6 p.Glu1435Lys Uncertain significance Single submitter
- COL6A6 p.Glu1595Asp Uncertain significance Single submitter
- COL6A6 p.Glu243Lys Uncertain significance Single submitter
- COL6A6 p.Glu254Lys Uncertain significance Single submitter
- COL6A6 p.Glu824Asp Uncertain significance Single submitter
- COL6A6 p.Glu970Asp Uncertain significance Single submitter
- COL6A6 p.Gly1040Ala Uncertain significance Single submitter
- COL6A6 p.Gly1059Asp Uncertain significance Single submitter
- COL6A6 p.Gly108Glu Uncertain significance Single submitter
- COL6A6 p.Gly1443Asp Uncertain significance Single submitter
- COL6A6 p.Gly1470Arg Uncertain significance Single submitter
- COL6A6 p.Gly1473Asp Uncertain significance Single submitter
- COL6A6 p.Gly1473Val Uncertain significance Single submitter
- COL6A6 p.Gly1482Arg Uncertain significance Single submitter
- COL6A6 p.Gly1485Arg Uncertain significance Single submitter
- COL6A6 p.Gly1506Arg Uncertain significance Single submitter
- COL6A6 p.Gly1598Asp Uncertain significance Single submitter
- COL6A6 p.Gly1598Val Uncertain significance Single submitter
- COL6A6 p.Gly1603Asp Uncertain significance Single submitter
- COL6A6 p.Gly1606Glu Uncertain significance Single submitter
- COL6A6 p.Gly1615Val Uncertain significance Single submitter
- COL6A6 p.Gly1633Glu Uncertain significance Single submitter
- COL6A6 p.Gly1747Glu Uncertain significance Single submitter
- COL6A6 p.Gly1889Asp Uncertain significance Single submitter
- COL6A6 p.Gly1926Arg Uncertain significance Single submitter
- COL6A6 p.Gly2062Asp Uncertain significance Single submitter
- COL6A6 p.Gly22Asp Uncertain significance Single submitter
- COL6A6 p.Gly867Ser Uncertain significance Single submitter
- COL6A6 p.His14Leu Uncertain significance Single submitter
- COL6A6 p.His1808Gln Uncertain significance Single submitter
- COL6A6 p.His1811Leu Uncertain significance Single submitter
- COL6A6 p.His2049Gln Uncertain significance Single submitter
- COL6A6 p.His2063Arg Uncertain significance Single submitter
- COL6A6 p.His2152Tyr Uncertain significance Single submitter
- COL6A6 p.His924Arg Uncertain significance Single submitter
- COL6A6 p.Ile101Thr Uncertain significance Single submitter
- COL6A6 p.Ile1063Val Uncertain significance Single submitter
- COL6A6 p.Ile10Thr Uncertain significance Single submitter
- COL6A6 p.Ile1261Val Uncertain significance Single submitter
- COL6A6 p.Ile134Val Uncertain significance Single submitter
- COL6A6 p.Ile1568Leu Uncertain significance Single submitter
- COL6A6 p.Ile1930Val Uncertain significance Single submitter
- COL6A6 p.Ile202Phe Uncertain significance Single submitter
- COL6A6 p.Ile2061Thr Uncertain significance Single submitter
- COL6A6 p.Ile2100Val Uncertain significance Single submitter
- COL6A6 p.Ile2163Met Uncertain significance Single submitter
- COL6A6 p.Ile217Thr Uncertain significance Single submitter
- COL6A6 p.Ile261Val Uncertain significance Single submitter
- COL6A6 p.Ile468Ser Uncertain significance Single submitter
- COL6A6 p.Ile695Thr Uncertain significance Single submitter
- COL6A6 p.Ile996Val Uncertain significance Single submitter
- COL6A6 p.Leu1203Phe Uncertain significance Single submitter
- COL6A6 p.Leu1224Arg Uncertain significance Single submitter
- COL6A6 p.Leu1276Phe Uncertain significance Single submitter
- COL6A6 p.Leu1333Pro Uncertain significance Single submitter
- COL6A6 p.Leu1418Pro Uncertain significance Single submitter
- COL6A6 p.Leu1418Val Uncertain significance Single submitter
- COL6A6 p.Leu1578Val Uncertain significance Single submitter
- COL6A6 p.Leu1632Met Uncertain significance Single submitter
- COL6A6 p.Leu2012Val Uncertain significance Single submitter
- COL6A6 p.Leu2137Val Uncertain significance Single submitter
- COL6A6 p.Leu2205Phe Uncertain significance Single submitter
- COL6A6 p.Leu270Pro Uncertain significance Single submitter
- COL6A6 p.Leu808Val Uncertain significance Single submitter
Predictors split 139
The independent predictors disagree with each other — read with care.
- COL6A6 p.Ala370Thr Benign Multiple submitters
- COL6A6 p.Arg155Gln Benign/Likely benign Multiple submitters
- COL6A6 p.Arg1864Thr Uncertain significance Multiple submitters
-
COL6A6 p.Arg906His
Uncertain significance
Multiple submitters
congenital myopathy
- COL6A6 p.Arg937Trp Uncertain significance Multiple submitters
- COL6A6 p.Pro556Ser Benign Multiple submitters
- COL6A6 p.Tyr1805Cys Uncertain significance Multiple submitters
- COL6A6 p.Ala110Ser Uncertain significance Single submitter
- COL6A6 p.Ala1122Thr Uncertain significance Single submitter
- COL6A6 p.Ala1781Val Uncertain significance Single submitter
- COL6A6 p.Ala1867Ser Uncertain significance Single submitter
- COL6A6 p.Arg1295Gln Uncertain significance Single submitter
- COL6A6 p.Arg1370Trp Uncertain significance Single submitter
- COL6A6 p.Arg1530Cys Uncertain significance Single submitter
- COL6A6 p.Arg1532Gly Uncertain significance Single submitter
- COL6A6 p.Arg155Trp Uncertain significance Single submitter
- COL6A6 p.Arg1660Cys Uncertain significance Single submitter
- COL6A6 p.Arg1717Cys Uncertain significance Single submitter
- COL6A6 p.Arg1766Trp Uncertain significance Single submitter
- COL6A6 p.Arg1814Cys Uncertain significance Single submitter
- COL6A6 p.Arg1826Gly Uncertain significance Single submitter
- COL6A6 p.Arg187Trp Uncertain significance Single submitter
- COL6A6 p.Arg1908Gly Uncertain significance Single submitter
- COL6A6 p.Arg1938Leu Uncertain significance Single submitter
- COL6A6 p.Arg2009Gln Uncertain significance Single submitter
- COL6A6 p.Arg2168Cys Benign Single submitter
- COL6A6 p.Arg267Gly Uncertain significance Single submitter
- COL6A6 p.Arg37Cys Uncertain significance Single submitter
- COL6A6 p.Arg408Trp Uncertain significance Single submitter
- COL6A6 p.Arg474Trp Likely benign Single submitter
- COL6A6 p.Arg581Thr Uncertain significance Single submitter
- COL6A6 p.Arg65Cys Uncertain significance Single submitter
- COL6A6 p.Arg746Gln Uncertain significance Single submitter
- COL6A6 p.Arg799Cys Uncertain significance Single submitter
- COL6A6 p.Arg804Trp Uncertain significance Single submitter
- COL6A6 p.Arg847Gln Uncertain significance Single submitter
- COL6A6 p.Arg87Gly Uncertain significance Single submitter
- COL6A6 p.Arg903Trp Uncertain significance Single submitter
- COL6A6 p.Asn677Lys Uncertain significance Single submitter
- COL6A6 p.Asn677Thr Uncertain significance Single submitter
- COL6A6 p.Asp127Ala Uncertain significance Single submitter
- COL6A6 p.Asp1309Gly Uncertain significance Single submitter
- COL6A6 p.Asp1486Asn Uncertain significance Single submitter
- COL6A6 p.Asp157Val Uncertain significance Single submitter
- COL6A6 p.Asp1949Gly Uncertain significance Single submitter
- COL6A6 p.Asp1993Asn Uncertain significance Single submitter
- COL6A6 p.Asp2019Glu Uncertain significance Single submitter
- COL6A6 p.Asp372Tyr Uncertain significance Single submitter
- COL6A6 p.Asp684Asn Uncertain significance Single submitter
- COL6A6 p.Asp790Gly Uncertain significance Single submitter
- COL6A6 p.Asp855His Uncertain significance Single submitter
- COL6A6 p.Asp927Val Uncertain significance Single submitter
- COL6A6 p.Gln1215Pro Uncertain significance Single submitter
- COL6A6 p.Gln2066His Uncertain significance Single submitter
- COL6A6 p.Gln374His Uncertain significance Single submitter
- COL6A6 p.Gln70Arg Uncertain significance Single submitter
- COL6A6 p.Gln735Arg Uncertain significance Single submitter
- COL6A6 p.Gln877Leu Uncertain significance Single submitter
- COL6A6 p.Glu1060Val Uncertain significance Single submitter
- COL6A6 p.Glu1062Lys Uncertain significance Single submitter
- COL6A6 p.Glu1117Ala Uncertain significance Single submitter
- COL6A6 p.Glu1483Lys Uncertain significance Single submitter
- COL6A6 p.Glu148Gly Uncertain significance Single submitter
- COL6A6 p.Glu1757Lys Uncertain significance Single submitter
- COL6A6 p.Glu1934Asp Uncertain significance Single submitter
- COL6A6 p.Glu672Lys Uncertain significance Single submitter
- COL6A6 p.Gly1080Ser Uncertain significance Single submitter
- COL6A6 p.Gly1150Glu Uncertain significance Single submitter
- COL6A6 p.Gly1200Arg Uncertain significance Single submitter
- COL6A6 p.Gly1404Arg Uncertain significance Single submitter
- COL6A6 p.Gly1404Glu Uncertain significance Single submitter
- COL6A6 p.Gly1467Glu Uncertain significance Single submitter
- COL6A6 p.Gly1476Ser Uncertain significance Single submitter
- COL6A6 p.Gly1585Ser Uncertain significance Single submitter
- COL6A6 p.Gly158Arg Uncertain significance Single submitter
- COL6A6 p.Gly1591Ala Uncertain significance Single submitter
- COL6A6 p.Gly1656Asp Uncertain significance Single submitter
- COL6A6 p.Gly1695Ser Uncertain significance Single submitter
- COL6A6 p.Gly1873Ser Uncertain significance Single submitter
- COL6A6 p.Gly359Arg Uncertain significance Single submitter
- COL6A6 p.Gly634Val Uncertain significance Single submitter
- COL6A6 p.Gly662Ala Uncertain significance Single submitter
- COL6A6 p.Gly696Arg Uncertain significance Single submitter
- COL6A6 p.Ile162Phe Uncertain significance Single submitter
- COL6A6 p.Ile1842Thr Uncertain significance Single submitter
- COL6A6 p.Ile1893Val Uncertain significance Single submitter
- COL6A6 p.Ile2166Thr Uncertain significance Single submitter
- COL6A6 p.Ile565Ser Uncertain significance Single submitter
- COL6A6 p.Ile689Val Uncertain significance Single submitter
- COL6A6 p.Ile787Phe Uncertain significance Single submitter
- COL6A6 p.Leu1325Arg Uncertain significance Single submitter
- COL6A6 p.Leu2013Trp Uncertain significance Single submitter
- COL6A6 p.Leu283Val Uncertain significance Single submitter
- COL6A6 p.Leu791Phe Uncertain significance Single submitter
- COL6A6 p.Lys1154Glu Uncertain significance Single submitter
- COL6A6 p.Lys1661Glu Uncertain significance Single submitter
- COL6A6 p.Lys573Glu Uncertain significance Single submitter
- COL6A6 p.Lys671Glu Uncertain significance Single submitter
- COL6A6 p.Lys724Asn Uncertain significance Single submitter
- COL6A6 p.Lys869Ile Uncertain significance Single submitter
- COL6A6 p.Met1019Leu Uncertain significance Single submitter
- COL6A6 p.Met1779Thr Uncertain significance Single submitter
- COL6A6 p.Met548Thr Uncertain significance Single submitter
- COL6A6 p.Phe1057Ser Uncertain significance Single submitter
- COL6A6 p.Phe1995Leu Uncertain significance Single submitter
- COL6A6 p.Phe245Ile Uncertain significance Single submitter
- COL6A6 p.Phe707Ile Uncertain significance Single submitter
- COL6A6 p.Pro1050Leu Uncertain significance Single submitter
- COL6A6 p.Pro1403Thr Uncertain significance Single submitter
- COL6A6 p.Pro1607Thr Uncertain significance Single submitter
- COL6A6 p.Pro1641Thr Uncertain significance Single submitter
- COL6A6 p.Pro1670Leu Uncertain significance Single submitter
- COL6A6 p.Pro1715Ala Uncertain significance Single submitter
- COL6A6 p.Pro1832Leu Uncertain significance Single submitter
- COL6A6 p.Pro89Thr Uncertain significance Single submitter
- COL6A6 p.Ser104Phe Uncertain significance Single submitter
- COL6A6 p.Ser1673Gly Uncertain significance Single submitter
- COL6A6 p.Ser1765Thr Uncertain significance Single submitter
- COL6A6 p.Ser1836Phe Uncertain significance Single submitter
- COL6A6 p.Ser2161Phe Uncertain significance Single submitter
- COL6A6 p.Ser2161Tyr Uncertain significance Single submitter
- COL6A6 p.Ser300Pro Uncertain significance Single submitter
- COL6A6 p.Ser40Cys Uncertain significance Single submitter
- COL6A6 p.Thr1110Ala Uncertain significance Single submitter
- COL6A6 p.Thr1857Met Uncertain significance Single submitter
- COL6A6 p.Thr1863Lys Uncertain significance Single submitter
- COL6A6 p.Thr1863Met Uncertain significance Single submitter
- COL6A6 p.Thr457Met Likely benign Single submitter
- COL6A6 p.Trp1209Cys Uncertain significance Single submitter
- COL6A6 p.Tyr1819Cys Uncertain significance Single submitter
- COL6A6 p.Val1135Met Uncertain significance Single submitter
- COL6A6 p.Val1167Ala Uncertain significance Single submitter
- COL6A6 p.Val159Met Uncertain significance Single submitter
- COL6A6 p.Val166Glu Uncertain significance Single submitter
- COL6A6 p.Val1897Met Uncertain significance Single submitter
- COL6A6 p.Val2029Phe Uncertain significance Single submitter
- COL6A6 p.Val2048Glu Uncertain significance Single submitter
- COL6A6 p.Val778Phe Uncertain significance Single submitter
- COL6A6 p.Val9Met Likely benign Single submitter
All COL6A6 variants
Likely pathogenic 1
- c.3971-2A>G Single submitter
Conflicting classifications of pathogenicity 2
- p.Asp1046Asn Single submitter ⚠
- p.Gly1434Ter Single submitter
Benign 21
- c.2977+4A>T Multiple submitters
- p.Ala1876= Multiple submitters
- p.Ala370Thr Multiple submitters ⚠
- p.Arg187Gln Multiple submitters
- p.Asp1466= Multiple submitters
- p.Asp1913= Multiple submitters
- p.Gln1533Lys Multiple submitters
- p.Gly1540= Multiple submitters
- p.His1799Arg Multiple submitters
- p.His540= Multiple submitters
- p.Ile1984Val Multiple submitters
- p.Ile296Thr Multiple submitters
- p.Pro556Ser Multiple submitters ⚠
- p.Ser21= Multiple submitters
- p.Ser683= Multiple submitters
- p.Tyr592= Multiple submitters
- p.Val475Ile Multiple submitters
- p.Ala1809Thr Single submitter
- p.Arg2168Cys Single submitter ⚠
- p.Arg804= Single submitter
- p.Asn1174= Single submitter
Benign/Likely benign 1
- p.Arg155Gln Multiple submitters ⚠
Likely benign 42
- c.4273-3C>T Multiple submitters
- p.Arg302Gln Multiple submitters
- p.Thr1882Ala Multiple submitters
- p.Thr715= Multiple submitters
- c.4273-9C>T Single submitter
- c.4533+1G>A Single submitter
- p.Ala1081= Single submitter
- p.Ala1590Ser Single submitter
- p.Ala1614Ser Single submitter
- p.Ala1955= Single submitter
- p.Ala336= Single submitter
- p.Arg1619His Single submitter
- p.Arg1974Trp Single submitter
- p.Arg2009Trp Single submitter
- p.Arg2253Lys Single submitter
- p.Arg323Gln Single submitter
- p.Arg37His Single submitter
- p.Arg474Trp Single submitter ⚠
- p.Arg786His Single submitter
- p.Asp157= Single submitter
- p.Asp2019Asn Single submitter
- p.Gly1419= Single submitter
- p.His2049= Single submitter
- p.Ile1058Thr Single submitter
- p.Ile1679Thr Single submitter
- p.Ile1831Leu Single submitter
- p.Ile1930Thr Single submitter
- p.Ile2166Val Single submitter
- p.Ile287Val Single submitter
- p.Ile362Val Single submitter
- p.Leu2079= Single submitter
- p.Met227Val Single submitter
- p.Met236Val Single submitter
- p.Met898fs Single submitter
- p.Phe2020= Single submitter
- p.Thr1287Ala Single submitter
- p.Thr457Met Single submitter ⚠
- p.Val1638Ile Single submitter
- p.Val214Ala Single submitter
- p.Val743Ile Single submitter
- p.Val9Met Single submitter ⚠
- p.Gly1129Asp No assertion criteria COL6A6-related disorder
Uncertain significance 359
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg1295Ter Multiple submitters
- p.Arg1864Thr Multiple submitters ⚠
- p.Arg906His Multiple submitters congenital myopathy ⚠
- p.Arg937Trp Multiple submitters ⚠
- p.Tyr1805Cys Multiple submitters ⚠
- c.3547+2dup Single submitter COL6A6-related disorder
- c.6502+1G>A Single submitter congenital myopathy
- p.Ala1041Val Single submitter ⚠
- p.Ala110Ser Single submitter ⚠
- p.Ala1122Thr Single submitter ⚠
- p.Ala1124Thr Single submitter ⚠
- p.Ala1179Val Single submitter ⚠
- p.Ala121Thr Single submitter ⚠
- p.Ala1327Asp Single submitter ⚠
- p.Ala1424Pro Single submitter ⚠
- p.Ala1504Thr Single submitter ⚠
- p.Ala1590Gly Single submitter ⚠
- p.Ala1781Val Single submitter ⚠
- p.Ala178Pro Single submitter ⚠
- p.Ala1809Ser Single submitter ⚠
- p.Ala1818Gly Single submitter ⚠
- p.Ala1867Ser Single submitter ⚠
- p.Ala1876Val Single submitter ⚠
- p.Ala1932Thr Single submitter ⚠
- p.Ala1979Thr Single submitter ⚠
- p.Ala258Ser Single submitter ⚠
- p.Ala398Val Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Ala902Asp Single submitter ⚠
- p.Arg1128Gly Single submitter ⚠
- p.Arg1295Gln Single submitter ⚠
- p.Arg1370Trp Single submitter ⚠
- p.Arg1530Cys Single submitter ⚠
- p.Arg1532Gly Single submitter ⚠
- p.Arg1557Lys Single submitter ⚠
- p.Arg155Trp Single submitter ⚠
- p.Arg1660Cys Single submitter ⚠
- p.Arg1660Leu Single submitter ⚠
- p.Arg1717Cys Single submitter ⚠
- p.Arg1766Trp Single submitter ⚠
- p.Arg1790Gln Single submitter ⚠
- p.Arg1814Cys Single submitter ⚠
- p.Arg1826Gly Single submitter ⚠
- p.Arg1835Ile Single submitter ⚠
- p.Arg1840Lys Single submitter ⚠
- p.Arg187Trp Single submitter ⚠
- p.Arg1908Gly Single submitter ⚠
- p.Arg1938Gln Single submitter ⚠
- p.Arg1938Leu Single submitter ⚠
- p.Arg1974Gln Single submitter ⚠
- p.Arg2009Gln Single submitter ⚠
- p.Arg2042Cys Single submitter ⚠
- p.Arg2146Gln Single submitter ⚠
- p.Arg2195Gln Single submitter ⚠
- p.Arg2231Ser Single submitter ⚠
- p.Arg267Gly Single submitter ⚠
- p.Arg323Gly Single submitter ⚠
- p.Arg342Gln Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg408Gln Single submitter ⚠
- p.Arg408Trp Single submitter ⚠
- p.Arg566Gln Single submitter ⚠
- p.Arg581Thr Single submitter ⚠
- p.Arg589Lys Single submitter ⚠
- p.Arg658Gln Single submitter ⚠
- p.Arg65Cys Single submitter ⚠
- p.Arg719Trp Single submitter ⚠
- p.Arg746Gln Single submitter ⚠
- p.Arg746Trp Single submitter ⚠
- p.Arg799Cys Single submitter ⚠
- p.Arg804Gln Single submitter ⚠
- p.Arg804Trp Single submitter ⚠
- p.Arg847Gln Single submitter ⚠
- p.Arg87Gly Single submitter ⚠
- p.Arg903Trp Single submitter ⚠
- p.Asn1225Ser Single submitter ⚠
- p.Asn1277Ser Single submitter ⚠
- p.Asn1450His Single submitter ⚠
- p.Asn2023Ser Single submitter ⚠
- p.Asn647Ser Single submitter ⚠
- p.Asn677Lys Single submitter ⚠
- p.Asn677Thr Single submitter ⚠
- p.Asn930Ser Single submitter ⚠
- p.Asp1029Asn Single submitter ⚠
- p.Asp1093His Single submitter ⚠
- p.Asp1111Glu Single submitter ⚠
- p.Asp1131Asn Single submitter ⚠
- p.Asp1162Asn Single submitter ⚠
- p.Asp1187Val Single submitter ⚠
- p.Asp127Ala Single submitter ⚠
- p.Asp1307Val Single submitter ⚠
- p.Asp1309Gly Single submitter ⚠
- p.Asp1334Gly Single submitter ⚠
- p.Asp1486Asn Single submitter ⚠
- p.Asp1501Gly Single submitter ⚠
- p.Asp157Val Single submitter ⚠
- p.Asp1928Asn Single submitter ⚠
- p.Asp1949Gly Single submitter ⚠
- p.Asp1993Asn Single submitter ⚠
- p.Asp2019Glu Single submitter ⚠
- p.Asp2131Glu Single submitter ⚠
- p.Asp235Gly Single submitter ⚠
- p.Asp246Val Single submitter ⚠
- p.Asp36Gly Single submitter ⚠
- p.Asp372Glu Single submitter ⚠
- p.Asp372Tyr Single submitter ⚠
- p.Asp436Ala Single submitter ⚠
- p.Asp451Glu Single submitter ⚠
- p.Asp684Asn Single submitter ⚠
- p.Asp790Gly Single submitter ⚠
- p.Asp821Gly Single submitter ⚠
- p.Asp855His Single submitter ⚠
- p.Asp927Val Single submitter ⚠
- p.Asp949Asn Single submitter ⚠
- p.Asp997Gly Single submitter ⚠
- p.Cys1176Arg Single submitter ⚠
- p.Cys1383Trp Single submitter ⚠
- p.Cys1942Tyr Single submitter ⚠
- p.Cys611Ser Single submitter ⚠
- p.Cys994Ser Single submitter ⚠
- p.Gln1113Arg Single submitter ⚠
- p.Gln1207Glu Single submitter ⚠
- p.Gln1215Pro Single submitter ⚠
- p.Gln1236Glu Single submitter ⚠
- p.Gln1472Glu Single submitter ⚠
- p.Gln1736His Single submitter ⚠
- p.Gln1954His Single submitter ⚠
- p.Gln2054His Single submitter ⚠
- p.Gln2066His Single submitter ⚠
- p.Gln330Arg Single submitter ⚠
- p.Gln374Glu Single submitter ⚠
- p.Gln374His Single submitter ⚠
- p.Gln577Lys Single submitter ⚠
- p.Gln608Leu Single submitter ⚠
- p.Gln653Pro Single submitter ⚠
- p.Gln691Lys Single submitter ⚠
- p.Gln697Arg Single submitter ⚠
- p.Gln70Arg Single submitter ⚠
- p.Gln735Arg Single submitter ⚠
- p.Gln877Leu Single submitter ⚠
- p.Glu1060Val Single submitter ⚠
- p.Glu1062Lys Single submitter ⚠
- p.Glu1117Ala Single submitter ⚠
- p.Glu1181Lys Single submitter ⚠
- p.Glu1255Asp Single submitter ⚠
- p.Glu1435Lys Single submitter ⚠
- p.Glu1483Lys Single submitter ⚠
- p.Glu148Gly Single submitter ⚠
- p.Glu1595Asp Single submitter ⚠
- p.Glu1757Lys Single submitter ⚠
- p.Glu1934Asp Single submitter ⚠
- p.Glu243Lys Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu672Lys Single submitter ⚠
- p.Glu824Asp Single submitter ⚠
- p.Glu970Asp Single submitter ⚠
- p.Gly1040Ala Single submitter ⚠
- p.Gly1059Asp Single submitter ⚠
- p.Gly1080Ser Single submitter ⚠
- p.Gly108Glu Single submitter ⚠
- p.Gly1150Glu Single submitter ⚠
- p.Gly1200Arg Single submitter ⚠
- p.Gly1404Arg Single submitter ⚠
- p.Gly1404Glu Single submitter ⚠
- p.Gly1443Asp Single submitter ⚠
- p.Gly1467Glu Single submitter ⚠
- p.Gly1470Arg Single submitter ⚠
- p.Gly1473Asp Single submitter ⚠
- p.Gly1473Val Single submitter ⚠
- p.Gly1476Ser Single submitter ⚠
- p.Gly1482Arg Single submitter ⚠
- p.Gly1485Arg Single submitter ⚠
- p.Gly1506Arg Single submitter ⚠
- p.Gly1585Ser Single submitter ⚠
- p.Gly158Arg Single submitter ⚠
- p.Gly1591Ala Single submitter ⚠
- p.Gly1598Asp Single submitter ⚠
- p.Gly1598Val Single submitter ⚠
- p.Gly1603Asp Single submitter ⚠
- p.Gly1606Glu Single submitter ⚠
- p.Gly1615Val Single submitter ⚠
- p.Gly1633Glu Single submitter ⚠
- p.Gly1656Asp Single submitter ⚠
- p.Gly1695Ser Single submitter ⚠
- p.Gly1747Glu Single submitter ⚠
- p.Gly1873Ser Single submitter ⚠
- p.Gly1889Asp Single submitter ⚠
- p.Gly1926Arg Single submitter ⚠
- p.Gly2062Asp Single submitter ⚠
- p.Gly22Asp Single submitter ⚠
- p.Gly359Arg Single submitter ⚠
- p.Gly634Val Single submitter ⚠
- p.Gly662Ala Single submitter ⚠
- p.Gly696Arg Single submitter ⚠
- p.Gly867Ser Single submitter ⚠
- p.His14Leu Single submitter ⚠
- p.His1808Gln Single submitter ⚠
- p.His1811Leu Single submitter ⚠
- p.His2049Gln Single submitter ⚠
- p.His2063Arg Single submitter ⚠
- p.His2152Tyr Single submitter ⚠
- p.His924Arg Single submitter ⚠
- p.Ile101Thr Single submitter ⚠
- p.Ile1063Val Single submitter ⚠
- p.Ile10Thr Single submitter ⚠
- p.Ile1261Val Single submitter ⚠
- p.Ile134Val Single submitter ⚠
- p.Ile1568Leu Single submitter ⚠
- p.Ile162Phe Single submitter ⚠
- p.Ile1842Thr Single submitter ⚠
- p.Ile1893Val Single submitter ⚠
- p.Ile1930Val Single submitter ⚠
- p.Ile202Phe Single submitter ⚠
- p.Ile2061Thr Single submitter ⚠
- p.Ile2100Val Single submitter ⚠
- p.Ile2163Met Single submitter ⚠
- p.Ile2166Thr Single submitter ⚠
- p.Ile217Thr Single submitter ⚠
- p.Ile261Val Single submitter ⚠
- p.Ile468Ser Single submitter ⚠
- p.Ile565Ser Single submitter ⚠
- p.Ile689Val Single submitter ⚠
- p.Ile695Thr Single submitter ⚠
- p.Ile787Phe Single submitter ⚠
- p.Ile996Val Single submitter ⚠
- p.Leu1203Phe Single submitter ⚠
- p.Leu1224Arg Single submitter ⚠
- p.Leu1276Phe Single submitter ⚠
- p.Leu1325Arg Single submitter ⚠
- p.Leu1333Pro Single submitter ⚠
- p.Leu1418Pro Single submitter ⚠
- p.Leu1418Val Single submitter ⚠
- p.Leu1578Val Single submitter ⚠
- p.Leu1632Met Single submitter ⚠
- p.Leu2012Val Single submitter ⚠
- p.Leu2013Trp Single submitter ⚠
- p.Leu2137Val Single submitter ⚠
- p.Leu2205Phe Single submitter ⚠
- p.Leu270Pro Single submitter ⚠
- p.Leu283Val Single submitter ⚠
- p.Leu791Phe Single submitter ⚠
- p.Leu808Val Single submitter ⚠
- p.Leu876Pro Single submitter ⚠
- p.Leu942Ile Single submitter ⚠
- p.Lys1154Glu Single submitter ⚠
- p.Lys1166Asn Single submitter ⚠
- p.Lys1661Glu Single submitter ⚠
- p.Lys168Glu Single submitter ⚠
- p.Lys2026Glu Single submitter ⚠
- p.Lys204Gln Single submitter ⚠
- p.Lys573Glu Single submitter ⚠
- p.Lys620Thr Single submitter ⚠
- p.Lys671Glu Single submitter ⚠
- p.Lys724Asn Single submitter ⚠
- p.Lys869Ile Single submitter ⚠
- p.Met1005Leu Single submitter ⚠
- p.Met1019Leu Single submitter ⚠
- p.Met1364Val Single submitter ⚠
- p.Met1779Thr Single submitter ⚠
- p.Met177Ile Single submitter ⚠
- p.Met1780Thr Single submitter ⚠
- p.Met1886Val Single submitter ⚠
- p.Met548Thr Single submitter ⚠
- p.Met548Val Single submitter ⚠
- p.Met619Thr Single submitter ⚠
- p.Met619Val Single submitter ⚠
- p.Met645Leu Single submitter ⚠
- p.Phe1016Leu Single submitter ⚠
- p.Phe1057Ser Single submitter ⚠
- p.Phe1773Cys Single submitter ⚠
- p.Phe1773Tyr Single submitter ⚠
- p.Phe1848Leu Single submitter ⚠
- p.Phe1995Leu Single submitter ⚠
- p.Phe2020Cys Single submitter ⚠
- p.Phe2219Leu Single submitter ⚠
- p.Phe232Leu Single submitter ⚠
- p.Phe232Val Single submitter ⚠
- p.Phe245Ile Single submitter ⚠
- p.Phe679Leu Single submitter ⚠
- p.Phe707Ile Single submitter ⚠
- p.Pro1050Leu Single submitter ⚠
- p.Pro122Ser Single submitter ⚠
- p.Pro1336Ser Single submitter ⚠
- p.Pro1403Thr Single submitter ⚠
- p.Pro1542Arg Single submitter ⚠
- p.Pro1607Thr Single submitter ⚠
- p.Pro1641Thr Single submitter ⚠
- p.Pro1670Leu Single submitter ⚠
- p.Pro1712Ser Single submitter ⚠
- p.Pro1714Leu Single submitter ⚠
- p.Pro1715Ala Single submitter ⚠
- p.Pro1715Arg Single submitter ⚠
- p.Pro1743Leu Single submitter ⚠
- p.Pro1749Leu Single submitter ⚠
- p.Pro1755Ala Single submitter ⚠
- p.Pro1832Leu Single submitter ⚠
- p.Pro2136Ala Single submitter ⚠
- p.Pro2150Ala Single submitter ⚠
- p.Pro2150Leu Single submitter ⚠
- p.Pro2150Thr Single submitter ⚠