COL12A1 — 4012 ClinVar variants

All ClinVar germline COL12A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1200 flagged for review →

59 Pathogenic · 13 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 307 Conflicting · 144 Benign · 71 Benign/Likely benign · 1338 Likely benign · 2010 Uncertain significance

Full COL12A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1200

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 144

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

COL12A1 p.Ala1318Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala1879Thr Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ala1882Val Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Ala2240Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala2953Ser Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ala396Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala669Val Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala670Gly Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala725Ser Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ala725Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1054Gln Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg1086Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1128Lys Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg1212Trp Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1224Cys Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1286His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1396Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1399His Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg1414Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1427Cys Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Arg1427His Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg1522His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1560Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1560Trp Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1594His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1804Gln Conflicting Single submitter
COL12A1-related disorder
COL12A1 p.Arg1804Trp Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1834Trp Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1924His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1953His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1965Cys Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1987His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1993Trp Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Arg2021Gln Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg2025His Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Arg2314Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg2478Trp Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg2882Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg2938Cys Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg581Cys Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg727Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg775Gly Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg905His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn1156His Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Asn1337Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn1538Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn1713Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn1763Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy
COL12A1 p.Asn2039Ser Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Asn2183Lys Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Asn2797Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1736Glu Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1736Gly Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Asp37Gly Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp98Asn Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln2086Lys Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln2214Arg Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln857Glu Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln878Arg Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Glu1706Lys Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Glu1712Lys Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Glu420Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu717Lys Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu720Lys Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu898Gly Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Gly1081Ala Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Gly1468Arg Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly1893Arg Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly1923Arg Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly2111Glu Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Gly2789Arg Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.His1550Gln Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.His2257Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.His663Arg Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ile1068Val Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ile1307Val Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile1482Thr Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ile1727Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile1801Thr Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ile1891Met Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile21Thr Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ile2310Val Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile248Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile587Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy
COL12A1 p.Ile916Val Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Leu1262Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Leu1709Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Leu1999Arg Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Leu2446Phe Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Lys1260Asn Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Lys1445Arg Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Lys1622Glu Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Lys2293Arg Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Lys2605Gln Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Lys628Arg Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Lys840Arg Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met1190Ile Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met1582Leu Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met2850Val Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met419Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1044Ser Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Pro1109Ala Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Pro1603Ala Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1828Leu Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1947Leu Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1947Thr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1996Leu Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2308Ala Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2509Ala Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro384Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro591Arg Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Pro772Ser Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Pro7Ala Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Pro825Ala Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ser1261Asn Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ser1394Cys Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Ser1438Gly Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ser1633Asn Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ser2042Leu Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Thr1082Arg Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Thr1124Met Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Thr1488Asn Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Thr1513Ala Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Thr1544Ala Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Thr1986Met Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Thr2618Met Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Thr388Met Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Thr40Ala Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Thr498Ala Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Thr58Met Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Thr960Met Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Tyr1600His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Tyr212His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Tyr2150His Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val1024Ile Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val1051Leu Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val1170Ile Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val1559Ile Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val1655Met Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val1823Ile Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val1966Ile Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Val2633Ala Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val792Ile Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Val846Ile Conflicting Single submitter
Ullrich congenital muscular dystrophy 2

Predicted LoF vs a conflicting call 12

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

COL12A1 c.334+1G>A Conflicting Single submitter
Bethlem myopathy 2
COL12A1 c.335-1G>C Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 c.394+1G>A Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 c.6067+1G>A Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Arg1104Ter Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg2905Ter Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg2980Ter Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln3048Ter Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Gln3057Ter Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln745Ter Conflicting Single submitter
Bethlem myopathy 2
COL12A1 p.Gly854fs Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val1632fs Conflicting Single submitter
Bethlem myopathy 2

Predictors lean, ClinVar uncertain 945

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 945

COL12A1 p.Ala11Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala14Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala164Thr Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Ala1679Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala1882Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Ala1898Thr Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Ala2044Thr Uncertain significance Multiple submitters
COL12A1-related disorder
COL12A1 p.Ala2566Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala2700Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala2760Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala2953Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala379Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Ala522Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Ala631Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala725Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala880Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala888Pro Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala957Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1031Ser Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Arg1434Gln Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1568Gly Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1575Gly Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1757Gln Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1779His Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Arg1779Pro Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1848Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Arg189Thr Uncertain significance Multiple submitters
COL12A1 p.Arg1901Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Arg1993Gln Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg2602Gly Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg262Lys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg2764Gly Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg3028Cys Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Arg392His Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Arg775Lys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg776Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Asn1538Asp Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn1715Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Asn1758Lys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn2173Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn2340Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn2466Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn2528Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1162Ala Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1258Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1314Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1571Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1613Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1829Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Asp1921Gly Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Asp2049Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp2068Asn Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Asp2181Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Asp2514Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Asp26Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Asp3045Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp393Asn Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp637Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Asp707Asn Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp785Glu Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Cys2739Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln1811Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln2120Glu Uncertain significance Multiple submitters
COL12A1-related disorder
COL12A1 p.Gln2538Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln2607Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln478His Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gln478Leu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu1073Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Glu1429Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Glu1540Asp Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Glu1868Gly Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu1886Lys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu2036Asp Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu2355Asp Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu2543Gln Uncertain significance Multiple submitters
COL12A1 p.Glu2639Lys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu593Asp Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Glu611Gly Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Glu716Ala Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu780Asp Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Glu89Ala Uncertain significance Multiple submitters
COL12A1-related disorder
COL12A1 p.Glu89Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Gly1273Ala Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly1486Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly1794Asp Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly1794Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly2730Glu Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Gly2798Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly2803Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Gly2869Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly2884Cys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly3039Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly536Arg Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Gly65Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly671Ala Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Gly934Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.His1638Pro Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.His378Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.His42Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile107Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile1185Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile1210Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Ile1373Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile1980Met Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile2124Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile2482Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile2497Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile2580Val Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Ile2611Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile2674Met Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Ile2674Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile2708Val Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Ile2769Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile2773Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile2916Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile341Met Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile711Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile793Asn Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Leu2192Phe Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Leu698Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Leu895Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Leu942Pro Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Leu995Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Lys1272Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Lys1511Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Lys2287Glu Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Lys2287Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Lys2321Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Lys2442Arg Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Lys34Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Lys365Gln Uncertain significance Multiple submitters
COL12A1 p.Lys408Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Lys636Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Lys951Glu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met1183Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met1530Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met2159Thr Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met830Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Met961Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Phe1290Cys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Phe1877Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Phe2347Cys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Phe2534Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Phe2644Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Pro1270Leu Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Pro1298Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1474Ser Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1958Arg Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2158Leu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2304Leu Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 99

The independent predictors disagree with each other — read with care.

COL12A1 p.Ala1300Val Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1594Cys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1594Pro Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg1779Cys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Arg2436Gln Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn2623Lys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp1325Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Glu1197Gly Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly1833Asp Uncertain significance Multiple submitters
COL12A1 p.Ile2410Thr Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Lys421Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Met1835Lys Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Phe70Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Pro2751Thr Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Pro2775Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL12A1 p.Pro2785Leu Uncertain significance Multiple submitters
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro3005Leu Uncertain significance Multiple submitters
Bethlem myopathy 2
COL12A1 p.Ala2504Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala2595Pro Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ala631Pro Uncertain significance Single submitter
COL12A1 p.Arg905Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn1140Lys Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Asn1268Tyr Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asn2528Lys Uncertain significance Single submitter
Bethlem myopathy 2
COL12A1 p.Asp1351Gly Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp171Val Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp2068His Uncertain significance Single submitter
COL12A1 p.Asp2601Ala Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp2601Glu Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp2601Tyr Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp2744Gly Uncertain significance Single submitter
COL12A1 p.Asp2781Ala Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Asp2781Val Uncertain significance Single submitter
COL12A1 p.Glu1145Asp Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Glu704Asp Uncertain significance Single submitter
Inborn genetic diseases
COL12A1 p.Gly1081Glu Uncertain significance Single submitter
COL12A1 p.Gly1837Glu Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly1839Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Gly2918Val Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile1367Met Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ile172Thr Conflicting Single submitter
Inborn genetic diseases
COL12A1 p.Ile627Met Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Leu1826Pro Uncertain significance Single submitter
COL12A1 p.Leu2573Phe Uncertain significance Single submitter
COL12A1 p.Lys1053Asn Uncertain significance Single submitter
Inborn genetic diseases
COL12A1 p.Lys1302Arg Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Lys2532Asn Uncertain significance Single submitter
COL12A1 p.Lys2641Asn Uncertain significance Single submitter
COL12A1 p.Lys351Asn Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Met1280Ile Uncertain significance Single submitter
Inborn genetic diseases
COL12A1 p.Phe1087Cys Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Phe1087Leu Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Phe1401Leu Uncertain significance Single submitter
COL12A1 p.Phe1430Leu Uncertain significance Single submitter
Inborn genetic diseases
COL12A1 p.Phe2034Leu Uncertain significance Single submitter
COL12A1 p.Phe2220Leu Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1465Ala Likely benign Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1537Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro1565Thr Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2312Leu Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2358Ser Uncertain significance Single submitter
Inborn genetic diseases
COL12A1 p.Pro2749Ala Uncertain significance Single submitter
COL12A1 p.Pro2758Ala Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2778Ala Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2778Ser Uncertain significance Single submitter
COL12A1 p.Pro2785Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2790Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2802Arg Uncertain significance Single submitter
COL12A1 p.Pro2832Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2852His Uncertain significance Single submitter
COL12A1 p.Pro2852Ser Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2858Leu Likely benign Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2865Ala Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2877His Likely benign Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2947Leu Likely benign Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2950Arg Uncertain significance Single submitter
Inborn genetic diseases
COL12A1 p.Pro2968Gln Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2968Leu Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro2968Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro3014Leu Likely benign Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro3026Ala Conflicting Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro3026Leu Uncertain significance Single submitter
Bethlem myopathy 2
COL12A1 p.Pro3037His Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro3037Ser Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Pro3037Thr Uncertain significance Single submitter
COL12A1 p.Ser1411Arg Uncertain significance Single submitter
Inborn genetic diseases
COL12A1 p.Ser1754Arg Uncertain significance Single submitter
Bethlem myopathy 2
COL12A1 p.Ser1824Pro Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ser359Arg Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ser685Arg Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Ser996Phe Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Thr1175Ala Uncertain significance Single submitter
Bethlem myopathy 2
COL12A1 p.Thr2089Ile Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Thr2565Ile Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Thr2740Lys Uncertain significance Single submitter
Bethlem myopathy 2
COL12A1 p.Val1440Glu Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val2073Leu Uncertain significance Single submitter
Ullrich congenital muscular dystrophy 2
COL12A1 p.Val2654Glu Uncertain significance Single submitter
Inborn genetic diseases
COL12A1 p.Pro2856Leu Uncertain significance No assertion criteria
COL12A1-related disorder

All COL12A1 variants

Pathogenic 59

c.5794+2T>A Multiple submitters Bethlem myopathy 2
p.Arg1396Ter Multiple submitters Bethlem myopathy 2
p.Arg2021Ter Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2822Ter Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg727Ter Multiple submitters
p.Glu1642Ter Multiple submitters Ullrich congenital muscular dystrophy 2
c.7840+1G>A Single submitter Ullrich congenital muscular dystrophy 2
c.8100+1G>C Single submitter Ullrich congenital muscular dystrophy 2
c.8100+2T>C Single submitter Ullrich congenital muscular dystrophy 2
c.8100+2T>G Single submitter Ullrich congenital muscular dystrophy 2
c.823+1G>A Single submitter Ullrich congenital muscular dystrophy 2
c.8319+1G>T Single submitter Ullrich congenital muscular dystrophy 2
c.8577+1del Single submitter Ullrich congenital muscular dystrophy 2
p.Ala10fs Single submitter Ullrich congenital muscular dystrophy 2
p.Ala1332fs Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrIleArgHisArgAspArgAsnHisProArgLeuValProValProAsnGlnSerTyrArgSerArgGluProAsnSerAlaHisArgLysThrAlaAlaAspLeuProProSerPhePheTer Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1434Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1599Ter Single submitter Bethlem myopathy 2
p.Arg2032Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Cys2501Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Gln1428Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Gln2246fs Single submitter Ullrich congenital muscular dystrophy 2
p.Gln2362fs Single submitter Ullrich congenital muscular dystrophy 2
p.Gln2450Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Gln2788fs Single submitter Ullrich congenital muscular dystrophy 2
p.Gln2914fs Single submitter Ullrich congenital muscular dystrophy 2
p.Gly2789fs Single submitter Ullrich congenital muscular dystrophy 2
p.Gly2795Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Ile1393fs Single submitter Bethlem myopathy 2
p.Ile2703fs Single submitter Ullrich congenital muscular dystrophy 2
p.Leu1253Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Leu1391fs Single submitter Ullrich congenital muscular dystrophy 2
p.Leu751Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Met2920fs Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2308fs Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2831fs Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2858fs Single submitter Ullrich congenital muscular dystrophy 2
p.Ser1394fs Single submitter Ullrich congenital muscular dystrophy 2
p.Ser1411fs Single submitter Ullrich congenital muscular dystrophy 2
p.Ser19fs Single submitter Ullrich congenital muscular dystrophy 2
p.Ser2042Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Ser2253Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Ser2546fs Single submitter Ullrich congenital muscular dystrophy 2
p.Thr1472fs Single submitter Ullrich congenital muscular dystrophy 2
p.Thr1659fs Single submitter Ullrich congenital muscular dystrophy 2
p.Thr1674fs Single submitter Ullrich congenital muscular dystrophy 2
p.Thr1986fs Single submitter Ullrich congenital muscular dystrophy 2
p.Thr2642fs Single submitter Ullrich congenital muscular dystrophy 2
p.Trp652fs Single submitter
p.Tyr1415Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Tyr2055Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Tyr2204Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Val1612fs Single submitter Bethlem myopathy 2
p.Val1942fs Single submitter Ullrich congenital muscular dystrophy 2
p.Val2460fs Single submitter Ullrich congenital muscular dystrophy 2
p.Arg376Ter No assertion criteria Myopathic Ehlers-Danlos syndrome
p.Gly2777Arg No assertion criteria Bethlem myopathy 2
p.Gly2786Asp No assertion criteria Bethlem myopathy 2
p.Phe497fs No assertion criteria Ullrich congenital muscular dystrophy 2

Pathogenic/Likely pathogenic 13

c.5230+1G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.7356del Multiple submitters Ullrich congenital muscular dystrophy 2
c.8100+3_8100+6del Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1299Ter Multiple submitters Bethlem myopathy 2
p.Arg1301Ter Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1414Ter Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1757Ter Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg3035Ter Multiple submitters Bethlem myopathy 2
p.Gly2245Ter Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile2334Thr Multiple submitters Bethlem myopathy 2
p.Phe2273fs Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser1580fs Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser1768fs Multiple submitters Bethlem myopathy 2

Likely pathogenic 70

c.4418-1G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.4957+1G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.7519+1G>A Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2753Asp Multiple submitters Bethlem myopathy 2
p.Gly2818Glu Multiple submitters Inborn genetic diseases
c.3715+1G>T Single submitter Ullrich congenital muscular dystrophy 2
c.395-2A>C Single submitter Ullrich congenital muscular dystrophy 2
c.4000+1G>A Single submitter
c.4147+1G>C Single submitter Ullrich congenital muscular dystrophy 2
c.4417+2_4417+3del Single submitter Ullrich congenital muscular dystrophy 2
c.4827+1G>T Single submitter Bethlem myopathy 2
c.5097+1G>A Single submitter Ullrich congenital muscular dystrophy 2
c.5524+1G>A Single submitter
c.5664+1G>A Single submitter Ullrich congenital muscular dystrophy 2
c.5795-2A>C Single submitter Ullrich congenital muscular dystrophy 2
c.6724+1G>C Single submitter Ullrich congenital muscular dystrophy 2
c.6872-2A>G Single submitter Ullrich congenital muscular dystrophy 2
c.73+1G>A Single submitter Ullrich congenital muscular dystrophy 2
c.7558+2T>G Single submitter Ullrich congenital muscular dystrophy 2
c.7697+1G>A Single submitter Ullrich congenital muscular dystrophy 2
c.7697+1G>C Single submitter Bethlem myopathy 2
c.7698-2A>G Single submitter COL12A1-related disorders
c.7950+1G>A Single submitter Ullrich congenital muscular dystrophy 2
c.8101-1G>T Single submitter Ullrich congenital muscular dystrophy 2
c.8179-2A>G Single submitter Ullrich congenital muscular dystrophy 2
c.8265+1G>A Single submitter Ullrich congenital muscular dystrophy 2
c.8265+2T>C Single submitter
c.8265+5G>A Single submitter
c.8319+1G>C Single submitter Bethlem myopathy 2
c.8319+2T>G Single submitter Ullrich congenital muscular dystrophy 2
c.8320-15_8379delinsCA Single submitter Bethlem myopathy 2
c.8393_8415+5del Single submitter Bethlem myopathy 2
c.8415+1G>C Single submitter Ullrich congenital muscular dystrophy 2
c.8415+1G>T Single submitter Bethlem myopathy 2
c.8577+1G>A Single submitter
c.8578-2A>T Single submitter Ullrich congenital muscular dystrophy 2
p.Asp2601fs Single submitter
p.Asp737fs Single submitter
p.Gln1242Ter Single submitter Ullrich congenital muscular dystrophy 2
p.Gln614Ter Single submitter
p.Glu1362Ter Single submitter
p.Gly1922Glu Single submitter Bethlem myopathy 2
p.Gly2646Val Single submitter COL12A1-related disorders
p.Gly2689Arg Single submitter
p.Gly2777Asp Single submitter Inborn genetic diseases
p.Gly2783Asp Single submitter Bethlem myopathy 2
p.Gly2789Val Single submitter
p.Gly2893fs Single submitter COL12A1-related disorders
p.Gly3018Asp Single submitter neurodevelopmental disorder
p.Gly3024Asp Single submitter Ullrich congenital muscular dystrophy 2
p.Gly3039fs Single submitter Bethlem myopathy 2
p.Ile210fs Single submitter
p.Ile2664fs Single submitter
p.Lys2474fs Single submitter Ullrich congenital muscular dystrophy 2
p.Pro1843fs Single submitter
p.Pro2787_Gly2789delinsLeuGlnAlaSerSer Single submitter Ullrich congenital muscular dystrophy 2
p.Ser1320Ter Single submitter COL12A1-related disorder
p.Thr1770fs Single submitter Bethlem myopathy 2
p.Thr188Ile Single submitter
p.Thr2130fs Single submitter Ullrich congenital muscular dystrophy 2
p.Thr2403fs Single submitter Ullrich congenital muscular dystrophy 2
p.Trp1405Ter Single submitter
p.Trp939_Lys940delinsTer Single submitter Bethlem myopathy 2
p.Tyr1069fs Single submitter Bethlem myopathy 2
p.Tyr1630Ter Single submitter COL12A1-related disorders
p.Tyr2169Ter Single submitter
c.6067+1_6067+7del No assertion criteria Bethlem myopathy 2
c.8415+1G>A No assertion criteria Bethlem myopathy 2
p.Phe2594fs No assertion criteria
p.Ser253fs No assertion criteria Ullrich congenital muscular dystrophy 2

Conflicting classifications of pathogenicity 307

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

c.334+1G>A Single submitter Bethlem myopathy 2 ⚠
c.335-1G>C Single submitter Ullrich congenital muscular dystrophy 2 ⚠
c.335-8del Single submitter Ullrich congenital muscular dystrophy 2
c.3835+4A>G Single submitter Ullrich congenital muscular dystrophy 2
c.394+1G>A Single submitter Ullrich congenital muscular dystrophy 2 ⚠
c.4148-4G>C Single submitter Bethlem myopathy 2
c.4288-5C>T Single submitter Ullrich congenital muscular dystrophy 2
c.4561-11T>C Single submitter Bethlem myopathy 2
c.5098-5C>T Single submitter Ullrich congenital muscular dystrophy 2
c.6067+1G>A Single submitter Inborn genetic diseases ⚠
c.6608-4G>A Single submitter Ullrich congenital muscular dystrophy 2
c.74-15CT[3] Single submitter Ullrich congenital muscular dystrophy 2
c.8470-3C>A Single submitter Ullrich congenital muscular dystrophy 2
c.8686-5A>T Single submitter Ullrich congenital muscular dystrophy 2
p.Ala1318Thr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ala15Ser Single submitter Ullrich congenital muscular dystrophy 2
p.Ala1879Thr Single submitter Inborn genetic diseases ⚠
p.Ala1882Val Single submitter Bethlem myopathy 2 ⚠
p.Ala2240Thr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ala2444Val Single submitter Ullrich congenital muscular dystrophy 2
p.Ala2566= Single submitter Inborn genetic diseases
p.Ala2953Ser Single submitter Inborn genetic diseases ⚠
p.Ala396Thr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ala406Thr Single submitter Ullrich congenital muscular dystrophy 2
p.Ala506Gly Single submitter Ullrich congenital muscular dystrophy 2
p.Ala579Val Single submitter Ullrich congenital muscular dystrophy 2
p.Ala669Val Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ala670Gly Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ala703Val Single submitter COL12A1-related disorder
p.Ala725Ser Single submitter Inborn genetic diseases ⚠
p.Ala725Thr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ala885Thr Single submitter Inborn genetic diseases
p.Arg1031Cys Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1031His Single submitter Inborn genetic diseases
p.Arg1054Gln Single submitter Inborn genetic diseases ⚠
p.Arg1086Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1104Ter Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1128Lys Single submitter Inborn genetic diseases ⚠
p.Arg1212Trp Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1224Cys Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1224His Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1286Cys Single submitter Inborn genetic diseases
p.Arg1286His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1301Gln Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1396Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1399His Single submitter Inborn genetic diseases ⚠
p.Arg1414Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1427Cys Single submitter Bethlem myopathy 2 ⚠
p.Arg1427His Single submitter Inborn genetic diseases ⚠
p.Arg1522Cys Single submitter Inborn genetic diseases
p.Arg1522His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1560Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1560Trp Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1594His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1742Cys Single submitter Bethlem myopathy 2
p.Arg1804Gln Single submitter COL12A1-related disorder ⚠
p.Arg1804Trp Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1834Trp Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1863Cys Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1872Cys Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1872His Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1924Cys Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1924His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1953Cys Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1953His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1965Cys Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1965His Single submitter Ullrich congenital muscular dystrophy 2
p.Arg1987Cys Single submitter Inborn genetic diseases
p.Arg1987His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1993Trp Single submitter Bethlem myopathy 2 ⚠
p.Arg2021Gln Single submitter Inborn genetic diseases ⚠
p.Arg2025Cys Single submitter Ullrich congenital muscular dystrophy 2
p.Arg2025His Single submitter Bethlem myopathy 2 ⚠
p.Arg2314Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg2314Trp Single submitter Ullrich congenital muscular dystrophy 2
p.Arg2478Gln Single submitter Ullrich congenital muscular dystrophy 2
p.Arg2478Trp Single submitter Inborn genetic diseases ⚠
p.Arg265His Single submitter Ullrich congenital muscular dystrophy 2
p.Arg2779His Single submitter Ullrich congenital muscular dystrophy 2
p.Arg2807His Single submitter Inborn genetic diseases
p.Arg2882Thr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg2905Gln Single submitter Inborn genetic diseases
p.Arg2905Ter Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg2938Cys Single submitter Inborn genetic diseases ⚠
p.Arg2938His Single submitter Bethlem myopathy 2
p.Arg2980Ter Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg2997Trp Single submitter Ullrich congenital muscular dystrophy 2
p.Arg3028His Single submitter Inborn genetic diseases
p.Arg3035Gln Single submitter Ullrich congenital muscular dystrophy 2
p.Arg486Gln Single submitter Bethlem myopathy 2
p.Arg565Lys Single submitter Inborn genetic diseases
p.Arg581Cys Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg581His Single submitter Ullrich congenital muscular dystrophy 2
p.Arg727Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg775Gly Single submitter Inborn genetic diseases ⚠
p.Arg905His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Arg933Cys Single submitter Ullrich congenital muscular dystrophy 2
p.Arg933His Single submitter Ullrich congenital muscular dystrophy 2
p.Asn1140Lys Single submitter Inborn genetic diseases ⚠
p.Asn1156His Single submitter Inborn genetic diseases ⚠
p.Asn1337Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asn1538Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asn1660Lys Single submitter Inborn genetic diseases
p.Asn1713Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asn1763Ser Single submitter Ullrich congenital muscular dystrophy ⚠
p.Asn2039Ser Single submitter Inborn genetic diseases ⚠
p.Asn2183Lys Single submitter Inborn genetic diseases ⚠
p.Asn2495Lys Single submitter Ullrich congenital muscular dystrophy 2
p.Asn2797Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asn540Ser Single submitter Inborn genetic diseases
p.Asp1179Asn Single submitter Inborn genetic diseases
p.Asp1315Asn Single submitter Bethlem myopathy 2
p.Asp1351Gly Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asp1551Asn Single submitter Ullrich congenital muscular dystrophy 2
p.Asp1736Glu Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asp1736Gly Single submitter Inborn genetic diseases ⚠
p.Asp2337Asn Single submitter Ullrich congenital muscular dystrophy 2
p.Asp2514Gly Single submitter Ullrich congenital muscular dystrophy 2
p.Asp2601Tyr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asp37Gly Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asp440Asn Single submitter Ullrich congenital muscular dystrophy 2
p.Asp98Asn Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Asp990Tyr Single submitter Ullrich congenital muscular dystrophy 2
p.Gln2086Lys Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gln2214Arg Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gln286Glu Single submitter Inborn genetic diseases
p.Gln3048His Single submitter Ullrich congenital muscular dystrophy 2
p.Gln3048Pro Single submitter Inborn genetic diseases
p.Gln3048Ter Single submitter Inborn genetic diseases ⚠
p.Gln3057Ter Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gln745Ter Single submitter Bethlem myopathy 2 ⚠
p.Gln857Glu Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gln878Arg Single submitter Inborn genetic diseases ⚠
p.Glu129Lys Single submitter Ullrich congenital muscular dystrophy 2
p.Glu1640Lys Single submitter Inborn genetic diseases
p.Glu1706Lys Single submitter Bethlem myopathy 2 ⚠
p.Glu1712Lys Single submitter Bethlem myopathy 2 ⚠
p.Glu2493Lys Single submitter Inborn genetic diseases
p.Glu2629Lys Single submitter Inborn genetic diseases
p.Glu2729Lys Single submitter Ullrich congenital muscular dystrophy 2
p.Glu420Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Glu491Gln Single submitter Ullrich congenital muscular dystrophy 2
p.Glu717Lys Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Glu720Lys Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Glu811Lys Single submitter Bethlem myopathy 2
p.Glu898Gly Single submitter Bethlem myopathy 2 ⚠
p.Gly1081Ala Single submitter Bethlem myopathy 2 ⚠
p.Gly1425= Single submitter Ullrich congenital muscular dystrophy 2
p.Gly1468Arg Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gly147= Single submitter Ullrich congenital muscular dystrophy 2
p.Gly1837Glu Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gly1893Arg Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gly1923Arg Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gly2075Asp Single submitter Ullrich congenital muscular dystrophy 2
p.Gly2111Glu Single submitter Bethlem myopathy 2 ⚠
p.Gly2245= Single submitter Ullrich congenital muscular dystrophy 2
p.Gly2789Arg Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gly2918Val Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gly2962= Single submitter Bethlem myopathy 2
p.Gly3056Arg Single submitter Inborn genetic diseases
p.Gly3063Ser Single submitter Inborn genetic diseases
p.Gly434Asp Single submitter Inborn genetic diseases
p.Gly799Glu Single submitter Ullrich congenital muscular dystrophy 2
p.Gly854fs Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Gly863Glu Single submitter Ullrich congenital muscular dystrophy 2
p.Gly984Glu Single submitter Ullrich congenital muscular dystrophy 2
p.His1256Arg Single submitter Ullrich congenital muscular dystrophy 2
p.His1256Leu Single submitter Ullrich congenital muscular dystrophy 2
p.His1550Gln Single submitter Inborn genetic diseases ⚠
p.His2257Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.His2880Arg Single submitter Ullrich congenital muscular dystrophy 2
p.His663Arg Single submitter Inborn genetic diseases ⚠
p.Ile1068Val Single submitter Inborn genetic diseases ⚠
p.Ile1238= Single submitter Ullrich congenital muscular dystrophy 2
p.Ile1307Val Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ile1482Thr Single submitter Inborn genetic diseases ⚠
p.Ile1727Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ile172Thr Single submitter Inborn genetic diseases ⚠
p.Ile1801Thr Single submitter Inborn genetic diseases ⚠
p.Ile1891Met Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2067Thr Single submitter Inborn genetic diseases
p.Ile21Thr Single submitter Inborn genetic diseases ⚠
p.Ile2310Val Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ile248Thr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2723Met Single submitter Ullrich congenital muscular dystrophy 2
p.Ile308Phe Single submitter Ullrich congenital muscular dystrophy 2
p.Ile548Met Single submitter Bethlem myopathy 2
p.Ile587Thr Single submitter Ullrich congenital muscular dystrophy ⚠
p.Ile916Val Single submitter Inborn genetic diseases ⚠
p.Ile962Thr Single submitter Ullrich congenital muscular dystrophy 2
p.Leu1262Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Leu1709Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Leu1714Val Single submitter Ullrich congenital muscular dystrophy 2
p.Leu1999Arg Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Leu203Ile Single submitter Inborn genetic diseases
p.Leu2446Phe Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Leu274= Single submitter
p.Leu2915= Single submitter Ullrich congenital muscular dystrophy 2
p.Leu804Val Single submitter Ullrich congenital muscular dystrophy 2
p.Leu84Val Single submitter Ullrich congenital muscular dystrophy 2
p.Lys1260Asn Single submitter Inborn genetic diseases ⚠
p.Lys1445Arg Single submitter Inborn genetic diseases ⚠
p.Lys1622Glu Single submitter Inborn genetic diseases ⚠
p.Lys2293Arg Single submitter Inborn genetic diseases ⚠
p.Lys2491Arg Single submitter Inborn genetic diseases
p.Lys2605Gln Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Lys628Arg Single submitter Bethlem myopathy 2 ⚠
p.Lys840Arg Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Met1190Ile Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Met1582Leu Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Met2850Val Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Met419Thr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Phe2132Leu Single submitter Inborn genetic diseases
p.Pro1044Ser Single submitter Bethlem myopathy 2 ⚠
p.Pro1109Ala Single submitter Bethlem myopathy 2 ⚠
p.Pro1474= Single submitter Ullrich congenital muscular dystrophy 2
p.Pro1588Thr Single submitter Ullrich congenital muscular dystrophy 2
p.Pro1603Ala Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro1654= Single submitter Ullrich congenital muscular dystrophy 2
p.Pro1729= Single submitter Ullrich congenital muscular dystrophy 2
p.Pro1828Leu Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro1947Leu Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro1947Thr Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro1996Leu Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro2277Ala Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2307Ser Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2308Ala Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro2509Ala Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro2564Ser Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2606Leu Single submitter Inborn genetic diseases
p.Pro2606Ser Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2802Leu Single submitter Inborn genetic diseases
p.Pro2832Arg Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2852Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro2855Ser Single submitter Inborn genetic diseases
p.Pro2870Ala Single submitter Inborn genetic diseases
p.Pro2870Leu Single submitter Ullrich congenital muscular dystrophy 2
p.Pro2944Leu Single submitter Ullrich congenital muscular dystrophy 2
p.Pro3022Ser Single submitter Ullrich congenital muscular dystrophy 2
p.Pro3026Ala Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro384Ser Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Pro560Thr Single submitter Bethlem myopathy 2
p.Pro591Arg Single submitter Inborn genetic diseases ⚠
p.Pro772Ser Single submitter Inborn genetic diseases ⚠
p.Pro7Ala Single submitter Inborn genetic diseases ⚠
p.Pro825Ala Single submitter Inborn genetic diseases ⚠
p.Pro986Arg Single submitter Ullrich congenital muscular dystrophy 2
p.Ser1261Asn Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ser1394Cys Single submitter Bethlem myopathy 2 ⚠
p.Ser1438Gly Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ser1633Asn Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Ser2042Leu Single submitter Inborn genetic diseases ⚠
p.Ser2141Phe Single submitter Inborn genetic diseases
p.Ser3062= Single submitter Ullrich congenital muscular dystrophy 2
p.Ser346Phe Single submitter Inborn genetic diseases
p.Ser791Phe Single submitter Ullrich congenital muscular dystrophy 2
p.Thr1082Arg Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Thr1083Ala Single submitter Ullrich congenital muscular dystrophy 2
p.Thr1124= Single submitter Ullrich congenital muscular dystrophy 2
p.Thr1124Met Single submitter Inborn genetic diseases ⚠
p.Thr1217Asn Single submitter Ullrich congenital muscular dystrophy 2
p.Thr1488Asn Single submitter Bethlem myopathy 2 ⚠
p.Thr1513Ala Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Thr1539Lys Single submitter Inborn genetic diseases
p.Thr1539Met Single submitter Inborn genetic diseases
p.Thr1544Ala Single submitter Inborn genetic diseases ⚠
p.Thr1836Met Single submitter Ullrich congenital muscular dystrophy 2
p.Thr190Asn Single submitter Inborn genetic diseases
p.Thr1986Met Single submitter Inborn genetic diseases ⚠
p.Thr232Met Single submitter Ullrich congenital muscular dystrophy 2
p.Thr2408Met Single submitter Ullrich congenital muscular dystrophy 2
p.Thr2618Met Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Thr388Met Single submitter Inborn genetic diseases ⚠
p.Thr40Ala Single submitter Inborn genetic diseases ⚠
p.Thr498Ala Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Thr58Met Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Thr63= Single submitter Ullrich congenital muscular dystrophy 2
p.Thr786Met Single submitter Ullrich congenital muscular dystrophy 2
p.Thr868Met Single submitter Inborn genetic diseases
p.Thr960Met Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Tyr1420Cys Single submitter Bethlem myopathy 2
p.Tyr1600His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Tyr198Cys Single submitter Inborn genetic diseases
p.Tyr212His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Tyr2150His Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Tyr525Phe Single submitter Ullrich congenital muscular dystrophy 2
p.Val1024Ile Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Val1051Leu Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Val1170Ile Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Val1218Met Single submitter Ullrich congenital muscular dystrophy 2
p.Val1457= Single submitter Ullrich congenital muscular dystrophy 2
p.Val145Met Single submitter Ullrich congenital muscular dystrophy 2
p.Val1559Ile Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Val1632fs Single submitter Bethlem myopathy 2 ⚠
p.Val1655Met Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Val1823Ile Single submitter Ullrich congenital muscular dystrophy 2 ⚠
p.Val1862Ala Single submitter Ullrich congenital muscular dystrophy 2
p.Val1913Ile Single submitter Ullrich congenital muscular dystrophy 2
p.Val1966Ile Single submitter Bethlem myopathy 2 ⚠
p.Val2143Leu Single submitter Inborn genetic diseases

Benign 144

c.1892-19_1892-18dup Multiple submitters Ullrich congenital muscular dystrophy 2
c.1892-8_1892-6del Multiple submitters Ullrich congenital muscular dystrophy 2
c.5395-29G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.5525-132A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.7086+44C>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.8265+19A>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.8650-19T>A Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2975= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile2148= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2861Asn Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr2433= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr3054= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr924= Multiple submitters Ullrich congenital muscular dystrophy 2
c.1289-11del Single submitter Bethlem myopathy 2
c.1289-89_1289-88insTT Single submitter
c.1289-90del Single submitter
c.1289-99_1289-98dup Single submitter
c.1891+233G>A Single submitter
c.1892-303G>A Single submitter
c.1892-6_1892-5insT Single submitter Ullrich congenital muscular dystrophy 2
c.190+92T>A Single submitter
c.191-311A>G Single submitter
c.2164+219G>A Single submitter
c.2165-32G>T Single submitter
c.2437+108G>A Single submitter
c.2438-279T>C Single submitter
c.2711-15dup Single submitter Ullrich congenital muscular dystrophy 2
c.2711-21C>T Single submitter
c.2984-285A>T Single submitter
c.334+18del Single submitter Ullrich congenital muscular dystrophy 2
c.3443+48C>A Single submitter
c.3444-112T>G Single submitter
c.3444-23A>C Single submitter
c.3444-58del Single submitter
c.3565+329C>T Single submitter
c.3565+35A>G Single submitter
c.3566-275G>A Single submitter
c.3715+33A>T Single submitter
c.394+125G>A Single submitter
c.4000+153C>T Single submitter
c.4000+96T>A Single submitter
c.4148-173C>T Single submitter
c.4287+167G>A Single submitter
c.4287+241dup Single submitter
c.4288-9del Single submitter Bethlem myopathy 2
c.4560+103G>A Single submitter
c.4560+282G>A Single submitter
c.4561-263T>C Single submitter
c.4561-80A>G Single submitter
c.4827+191G>A Single submitter
c.4957+50C>A Single submitter
c.5098-80G>A Single submitter
c.5394+10dup Single submitter Ullrich congenital muscular dystrophy 2
c.5394+117C>T Single submitter
c.5395-129G>T Single submitter
c.5524+189G>T Single submitter
c.5525-266G>C Single submitter
c.5525-306T>G Single submitter
c.5664+214C>T Single submitter
c.5794+35A>G Single submitter
c.5795-5C>T Single submitter Ullrich congenital muscular dystrophy 2
c.6068-171C>T Single submitter
c.6210+103G>C Single submitter
c.6211-158A>G Single submitter
c.6211-238C>T Single submitter
c.6211-241T>A Single submitter
c.6211-29A>C Single submitter
c.6460+74C>T Single submitter
c.6461-316T>C Single submitter
c.6608-161A>G Single submitter
c.6725-66G>T Single submitter
c.7086+171C>A Single submitter
c.7086+301G>C Single submitter
c.7086+35G>A Single submitter
c.7087-158A>G Single submitter
c.7087-184C>A Single submitter
c.7087-278C>A Single submitter
c.73+25C>T Single submitter
c.74-181C>G Single submitter
c.7519+274G>A Single submitter
c.7519+70A>G Single submitter
c.7520-262T>A Single submitter
c.7697+319T>C Single submitter
c.7950+94A>G Single submitter
c.7951-234A>T Single submitter
c.8178+260A>C Single submitter
c.8178+295G>A Single submitter
c.824-10dup Single submitter Ullrich congenital muscular dystrophy 2
c.8266-209A>C Single submitter
c.8319+13del Single submitter Ullrich congenital muscular dystrophy 2
c.8320-19T>C Single submitter Ullrich congenital muscular dystrophy 2
c.8416-112C>T Single submitter
c.8416-89G>A Single submitter
c.8469+9G>T Single submitter Ullrich congenital muscular dystrophy 2
c.8523+25A>G Single submitter
c.8524-220T>A Single submitter
c.8649+161A>T Single submitter
c.8649+246G>A Single submitter
c.8649+41C>T Single submitter
c.8685+12del Single submitter Ullrich congenital muscular dystrophy 2
c.8685+18dup Single submitter Ullrich congenital muscular dystrophy 2
c.8752+108A>G Single submitter
c.8752+246C>T Single submitter
c.8941+184T>C Single submitter
c.8941+18C>T Single submitter Ullrich congenital muscular dystrophy 2
c.9010+100G>T Single submitter
c.9010+15A>G Single submitter Ullrich congenital muscular dystrophy 2
c.9010+233G>A Single submitter
c.9181+295del Single submitter
c.9182-115TA[11] Single submitter
c.9182-115TA[13] Single submitter
c.9182-115TA[14] Single submitter
c.9182-201C>A Single submitter
c.*210T>G Single submitter
p.Ala2899= Single submitter Ullrich congenital muscular dystrophy 2
p.Ala439= Single submitter Ullrich congenital muscular dystrophy 2
p.Asn1703= Single submitter Ullrich congenital muscular dystrophy 2
p.Asn2079= Single submitter Ullrich congenital muscular dystrophy 2
p.Asn2558= Single submitter Ullrich congenital muscular dystrophy 2
p.Asp1258= Single submitter Ullrich congenital muscular dystrophy 2
p.Gln1963= Single submitter Ullrich congenital muscular dystrophy 2
p.Glu102= Single submitter Ullrich congenital muscular dystrophy 2
p.Glu1449= Single submitter Ullrich congenital muscular dystrophy 2
p.Glu22= Single submitter Ullrich congenital muscular dystrophy 2
p.Glu38Ala Single submitter Ullrich congenital muscular dystrophy 2
p.Gly2821= Single submitter Ullrich congenital muscular dystrophy 2
p.Gly3027= Single submitter Ullrich congenital muscular dystrophy 2
p.Ile2448= Single submitter Ullrich congenital muscular dystrophy 2
p.Ile367= Single submitter Ullrich congenital muscular dystrophy 2
p.Leu1505= Single submitter Ullrich congenital muscular dystrophy 2
p.Leu1737Val Single submitter Ullrich congenital muscular dystrophy 2
p.Leu5= Single submitter Ullrich congenital muscular dystrophy 2
p.Leu81= Single submitter Ullrich congenital muscular dystrophy 2
p.Lys1022= Single submitter Ullrich congenital muscular dystrophy 2
p.Lys1416= Single submitter Ullrich congenital muscular dystrophy 2
p.Lys628= Single submitter Ullrich congenital muscular dystrophy 2
p.Lys649Gln Single submitter Ullrich congenital muscular dystrophy 2
p.Pro1421= Single submitter Ullrich congenital muscular dystrophy 2
p.Ser3= Single submitter Ullrich congenital muscular dystrophy 2
p.Ser329= Single submitter Ullrich congenital muscular dystrophy 2
p.Ser390= Single submitter Ullrich congenital muscular dystrophy 2
p.Thr2208= Single submitter Ullrich congenital muscular dystrophy 2
p.Thr232= Single submitter Ullrich congenital muscular dystrophy 2
p.Thr2715= Single submitter Ullrich congenital muscular dystrophy 2

Benign/Likely benign 71

c.1892-19dup Multiple submitters Ullrich congenital muscular dystrophy 2
c.1892-6A>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.1892-7del Multiple submitters Ullrich congenital muscular dystrophy 2
c.190+14C>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.2164+18C>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.2437+13T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.2438-8dup Multiple submitters Ullrich congenital muscular dystrophy 2
c.2711-15T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.4000+5G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.4001-10G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.4691-12G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.6068-14T>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.6068-17G>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.6210+13C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.7354+10T>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.7355-9A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.7698-19_7698-15del Multiple submitters Ullrich congenital muscular dystrophy 2
c.8179-10A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.8416-14A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.8753-19G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.997+14G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.*16G>T Multiple submitters
p.Ala278= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala396= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala669= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1396= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1742His Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1953= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2807= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp1639= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gln1287= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu1669Gln Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu2160Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2115= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2283Glu Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2990= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly3058Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly989Arg Multiple submitters Ullrich congenital muscular dystrophy 2
p.His1550= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile1210= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile1738Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile2596Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu340= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu696= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Lys1445= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Lys209Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Phe1711= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro1958= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2066= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2712= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2855= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2874= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro759Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser1626Ala Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2711= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2994Pro Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser432= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr1060= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr1217= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr177= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr1836= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr2094Asn Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr2197Ile Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr2380= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr517= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr549= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr827= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr1415= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr1909= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val2746Ala Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val633Phe Multiple submitters Ullrich congenital muscular dystrophy 2

Likely benign 1338

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

c.1288+33T>G Multiple submitters
c.1289-89A>T Multiple submitters
c.1891+90C>T Multiple submitters
c.1892-7_1892-6del Multiple submitters Ullrich congenital muscular dystrophy 2
c.1892-7_1892-6insC Multiple submitters Ullrich congenital muscular dystrophy 2
c.191-12T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.2165-95T>C Multiple submitters
c.2711-24A>T Multiple submitters
c.3250+101G>A Multiple submitters
c.335-22TAA[2] Multiple submitters Ullrich congenital muscular dystrophy 2
c.3443+16G>A Multiple submitters Bethlem myopathy 2
c.3565+21C>T Multiple submitters
c.3566-15T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.3566-8C>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.3566-8C>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.3835+18G>A Multiple submitters Bethlem myopathy 2
c.394+16A>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.4000+18C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.4001-38G>A Multiple submitters
c.4147+17G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.4148-4G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.4288-12T>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.4417+15_4417+19del Multiple submitters Ullrich congenital muscular dystrophy 2
c.4690+7T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.4690+8A>G Multiple submitters Bethlem myopathy 2
c.4691-13C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.4958-7A>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.4958-7A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.5098-13C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.5230+17C>T Multiple submitters Bethlem myopathy 2
c.5251+14T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.5252-13A>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.5525-11G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.5525-20G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.5664+14G>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.5937+13G>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.6068-15A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.6210+16A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.6211-11T>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.6340+12G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.6607+7C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.6725-14G>A Multiple submitters Bethlem myopathy 2
c.6946+7_6946+8delinsGA Multiple submitters Ullrich congenital muscular dystrophy 2
c.7086+14C>T Multiple submitters Bethlem myopathy 2
c.7087-14A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.73+16C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.7355-13T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.7355-83C>A Multiple submitters
c.74-19T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.7558+16T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.7698-10T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.7698-8T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.7950+18T>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.7950+232A>G Multiple submitters
c.7950+9A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.8101-15G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.823+10G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.823+20T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.8320-16C>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.8320-181C>G Multiple submitters
c.8415+18C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.8469+14T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.8469+20G>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.8523+11T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.8523+17del Multiple submitters Bethlem myopathy 2
c.8523+18G>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.8524-6C>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.8650-58A>G Multiple submitters
c.8685+13A>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.8941+16T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.9011-86T>C Multiple submitters
c.997+11T>C Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala11= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala1318= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala14= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala1882= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala2048= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala304= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala373Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala561= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala579= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala888= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1216= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1366= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1427= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1784= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1834Gln Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg200= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2251His Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2397= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2717= Multiple submitters Bethlem myopathy 2
p.Arg581= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg607= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg933= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn1453= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn2206= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn2623= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn3055= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp1314= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp1921= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp1951= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp2049= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp2336= Multiple submitters Bethlem myopathy 2
p.Asp2434= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp2567= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp893= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp944= Multiple submitters Bethlem myopathy 2
p.Asp945= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Cys2508= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gln1313= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gln1428= Multiple submitters Bethlem myopathy 2
p.Gln1493= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gln199= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gln843= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gln878= Multiple submitters
p.Glu1007= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu1073= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu1741Lys Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu175= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu1796= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu657Asp Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu955= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2628= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2759= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly815= Multiple submitters Ullrich congenital muscular dystrophy 2
p.His1033= Multiple submitters Ullrich congenital muscular dystrophy 2
p.His2479= Multiple submitters Ullrich congenital muscular dystrophy 2
p.His378= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile1719= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile2248= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile2664Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile36= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile548= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile755= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu1535= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu688= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu870= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Lys2341= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Lys2423= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Lys667= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro1247= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro1270= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro1567= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro1983= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro211= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2574= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2802= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2943= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2947= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2968= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro2977= Multiple submitters Bethlem myopathy 2
p.Pro3002= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Pro384= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser1695= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2001= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2040= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2369= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2419= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2476= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2864= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2871= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser2952= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser3016= Multiple submitters Bethlem myopathy 2
p.Ser405= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser44= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser685= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser791= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ser941= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr1011= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr139= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr1397= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr1539= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr1822= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr2408= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr2600= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr2618= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr388= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr719= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr735= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr770= Multiple submitters Bethlem myopathy 2
p.Thr786= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr827Met Multiple submitters Ullrich congenital muscular dystrophy 2
p.Thr849= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr1243= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr2180= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr2381= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr349= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr632= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Tyr879= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val1023= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val121= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val1266= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val1341= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val142Ile Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val1780= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val1961= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val1989= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val244= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val2463= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val2540= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Val2746= Multiple submitters Ullrich congenital muscular dystrophy 2
c.1288+12T>G Single submitter Ullrich congenital muscular dystrophy 2
c.1288+15G>A Single submitter Ullrich congenital muscular dystrophy 2
c.1288+17A>C Single submitter Ullrich congenital muscular dystrophy 2
c.1288+18T>C Single submitter Ullrich congenital muscular dystrophy 2
c.1288+9A>G Single submitter Ullrich congenital muscular dystrophy 2
c.1289-10C>T Single submitter
c.1289-13T>G Single submitter Ullrich congenital muscular dystrophy 2
c.1289-15T>C Single submitter Ullrich congenital muscular dystrophy 2
c.1289-17T>A Single submitter Ullrich congenital muscular dystrophy 2
c.1289-18C>G Single submitter Ullrich congenital muscular dystrophy 2
c.1289-19A>G Single submitter Ullrich congenital muscular dystrophy 2
c.1289-57G>A Single submitter
c.1289-7T>C Single submitter Ullrich congenital muscular dystrophy 2
c.1891+13T>C Single submitter Ullrich congenital muscular dystrophy 2
c.1891+14G>A Single submitter Ullrich congenital muscular dystrophy 2
c.1891+17A>G Single submitter Ullrich congenital muscular dystrophy 2
c.1891+18G>A Single submitter Bethlem myopathy 2
c.1891+250G>C Single submitter
c.1891+325A>T Single submitter
c.1891+4A>G Single submitter Ullrich congenital muscular dystrophy 2
c.1892-132C>T Single submitter
c.1892-14_1892-13insA Single submitter Ullrich congenital muscular dystrophy 2
c.1892-290G>T Single submitter
c.1892-6dup Single submitter Ullrich congenital muscular dystrophy 2
c.1892-7T>A Single submitter Ullrich congenital muscular dystrophy 2
c.1892-7T>C Single submitter Ullrich congenital muscular dystrophy 2
c.1892-8_1892-7del Single submitter
c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT Single submitter Ullrich congenital muscular dystrophy 2
c.190+11A>G Single submitter Ullrich congenital muscular dystrophy 2
c.190+168del Single submitter
c.190+18G>A Single submitter Bethlem myopathy 2
c.190+311G>T Single submitter
c.190+312C>T Single submitter
c.191-11T>C Single submitter Ullrich congenital muscular dystrophy 2
c.191-16C>A Single submitter Ullrich congenital muscular dystrophy 2
c.191-17C>T Single submitter Ullrich congenital muscular dystrophy 2
c.191-8A>G Single submitter Ullrich congenital muscular dystrophy 2
c.191-9T>C Single submitter
c.2164+212G>A Single submitter
c.2164+279T>C Single submitter
c.2164+34_2164+35insC Single submitter
c.2164+36_2164+37del Single submitter
c.2164+8G>C Single submitter Bethlem myopathy 2
c.2165-14C>T Single submitter Ullrich congenital muscular dystrophy 2
c.2165-4T>C Single submitter Ullrich congenital muscular dystrophy 2
c.2165-8T>C Single submitter Ullrich congenital muscular dystrophy 2
c.2437+18A>G Single submitter Ullrich congenital muscular dystrophy 2
c.2438-11T>C Single submitter Ullrich congenital muscular dystrophy 2
c.2438-14A>C Single submitter Ullrich congenital muscular dystrophy 2
c.2438-20G>A Single submitter Ullrich congenital muscular dystrophy 2
c.2438-5T>C Single submitter Ullrich congenital muscular dystrophy 2
c.2438-92G>A Single submitter
c.2710+10A>G Single submitter Ullrich congenital muscular dystrophy 2
c.2710+11T>C Single submitter Ullrich congenital muscular dystrophy 2
c.2710+17_2710+18insTA Single submitter Ullrich congenital muscular dystrophy 2
c.2710+7A>G Single submitter Ullrich congenital muscular dystrophy 2
c.2710+8_2710+9delinsTTTTCTGAAA Single submitter Ullrich congenital muscular dystrophy 2
c.2710+8C>A Single submitter Ullrich congenital muscular dystrophy 2
c.2711-9C>A Single submitter Ullrich congenital muscular dystrophy 2
c.2983+11T>C Single submitter Ullrich congenital muscular dystrophy 2
c.2983+12_2983+14del Single submitter Ullrich congenital muscular dystrophy 2
c.2983+17G>A Single submitter Ullrich congenital muscular dystrophy 2
c.2983+19G>A Single submitter
c.2984-18C>A Single submitter Ullrich congenital muscular dystrophy 2
c.2984-18C>G Single submitter Ullrich congenital muscular dystrophy 2
c.2984-190C>A Single submitter
c.2984-40del Single submitter
c.2984-7C>T Single submitter Ullrich congenital muscular dystrophy 2
c.2984-8T>C Single submitter Ullrich congenital muscular dystrophy 2
c.3250+16T>G Single submitter Ullrich congenital muscular dystrophy 2
c.3250+18T>C Single submitter Ullrich congenital muscular dystrophy 2
c.3250+7AAT[2] Single submitter Ullrich congenital muscular dystrophy 2
c.3251-17T>A Single submitter Ullrich congenital muscular dystrophy 2
c.3251-18A>G Single submitter Ullrich congenital muscular dystrophy 2
c.3251-8C>T Single submitter Ullrich congenital muscular dystrophy 2
c.334+13A>T Single submitter Ullrich congenital muscular dystrophy 2
c.334+8C>T Single submitter Ullrich congenital muscular dystrophy 2
c.335-12G>A Single submitter Ullrich congenital muscular dystrophy 2
c.335-157G>C Single submitter
c.335-15A>G Single submitter Ullrich congenital muscular dystrophy 2
c.335-16T>C Single submitter Ullrich congenital muscular dystrophy 2
c.335-20A>G Single submitter Ullrich congenital muscular dystrophy 2
c.335-5C>T Single submitter Ullrich congenital muscular dystrophy 2
c.3443+10A>T Single submitter Ullrich congenital muscular dystrophy 2
c.3443+15C>T Single submitter Ullrich congenital muscular dystrophy 2
c.3443+20G>A Single submitter Bethlem myopathy 2
c.3443+20G>C Single submitter Ullrich congenital muscular dystrophy 2
c.3444-11T>C Single submitter
c.3444-15A>G Single submitter Ullrich congenital muscular dystrophy 2
c.3444-17A>G Single submitter Ullrich congenital muscular dystrophy 2
c.3444-19A>G Single submitter Ullrich congenital muscular dystrophy 2
c.3444-6T>C Single submitter Ullrich congenital muscular dystrophy 2
c.3444-7_3444-6del Single submitter
c.3444-8C>T Single submitter Ullrich congenital muscular dystrophy 2
c.3565+10T>A Single submitter
c.3565+11G>A Single submitter Ullrich congenital muscular dystrophy 2
c.3565+18A>G Single submitter
c.3566-100A>G Single submitter
c.3566-16A>G Single submitter Ullrich congenital muscular dystrophy 2

Uncertain significance 2010

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

c.1289-3C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.2983+5G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.2984-3C>T Multiple submitters Ullrich congenital muscular dystrophy 2
c.4000+4C>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.4561-3C>T Multiple submitters
c.5097+6T>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.5231-9_5231-8del Multiple submitters Ullrich congenital muscular dystrophy 2
c.5251+4A>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.6946+5G>A Multiple submitters Bethlem myopathy 2
c.7520-6T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.8178+5G>A Multiple submitters Ullrich congenital muscular dystrophy 2
c.8266-6T>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.8524-3T>C Multiple submitters Ullrich congenital muscular dystrophy 2
c.9010+6T>G Multiple submitters Ullrich congenital muscular dystrophy 2
c.9181+5G>A Multiple submitters Bethlem myopathy 2
p.Ala10Glu Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala1110Asp Multiple submitters Bethlem myopathy 2
p.Ala1198Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala11Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala1213Glu Multiple submitters Inborn genetic diseases
p.Ala1294Gly Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala1300Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala14Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala164Thr Multiple submitters Bethlem myopathy 2 ⚠
p.Ala1679Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala169Val Multiple submitters Bethlem myopathy 2
p.Ala1882Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1898Thr Multiple submitters Bethlem myopathy 2 ⚠
p.Ala1937Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala2044Thr Multiple submitters COL12A1-related disorder ⚠
p.Ala235Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala235Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala2385Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala2559Val Multiple submitters Bethlem myopathy 2
p.Ala2566Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala261Gly Multiple submitters Inborn genetic diseases
p.Ala2700Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala2734Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala2760Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala2814Gly Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala2899Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala2953Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala379Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala522Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala556Ser Multiple submitters Bethlem myopathy 2
p.Ala556Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala592Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ala631Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala725Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala809Thr Multiple submitters Inborn genetic diseases
p.Ala880Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala888Pro Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala957Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ala991Asp Multiple submitters Inborn genetic diseases
p.Arg1031Ser Multiple submitters Bethlem myopathy 2 ⚠
p.Arg1235Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1434Gln Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1434Leu Multiple submitters Inborn genetic diseases
p.Arg1568Gly Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1575Gly Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1594Cys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1594Pro Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1742Ser Multiple submitters Inborn genetic diseases
p.Arg1757Gln Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1779Cys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1779His Multiple submitters Bethlem myopathy 2 ⚠
p.Arg1779Pro Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg1848Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1863His Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg189Thr Multiple submitters ⚠
p.Arg1901Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1934Gly Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1965Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg1993Gln Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg2077Ser Multiple submitters Bethlem myopathy 2
p.Arg2228Gln Multiple submitters Inborn genetic diseases
p.Arg2228Trp Multiple submitters Inborn genetic diseases
p.Arg2251Cys Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2397Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2436Gln Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg2554Trp Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2602Gly Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg262Lys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg265Cys Multiple submitters Ullrich congenital muscular dystrophy
p.Arg2764Gly Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg2779Pro Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2938Leu Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg2964Leu Multiple submitters Ullrich congenital muscular dystrophy 2
p.Arg3028Cys Multiple submitters Bethlem myopathy 2 ⚠
p.Arg392His Multiple submitters Inborn genetic diseases ⚠
p.Arg476Lys Multiple submitters Inborn genetic diseases
p.Arg476Thr Multiple submitters Inborn genetic diseases
p.Arg558Gly Multiple submitters Inborn genetic diseases
p.Arg558Thr Multiple submitters Inborn genetic diseases
p.Arg775Lys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Arg776Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg905Cys Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn1377Lys Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn1390Thr Multiple submitters Bethlem myopathy 2
p.Asn1538Asp Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asn1660Ile Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn1715Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1758Lys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asn216Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn2173Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asn2340Asp Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn2340Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asn2393Ile Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asn2466Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asn2528Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asn2623Lys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asn2623Ser Multiple submitters
p.Asn2928Ser Multiple submitters Inborn genetic diseases
p.Asn728Tyr Multiple submitters
p.Asp1162Ala Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp1162Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp1258Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp1314Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp1325Val Multiple submitters Inborn genetic diseases ⚠
p.Asp1351Asn Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp1369Gly Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp1571Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp1613Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp1829Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1854Glu Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp1921Gly Multiple submitters Bethlem myopathy 2 ⚠
p.Asp2049Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp2068Asn Multiple submitters Bethlem myopathy 2 ⚠
p.Asp2137Gly Multiple submitters Inborn genetic diseases
p.Asp2181Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp2370Asn Multiple submitters Bethlem myopathy 2
p.Asp2514Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp26Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp2728Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp3045Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp393Asn Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp393Val Multiple submitters Inborn genetic diseases
p.Asp487Asn Multiple submitters Ullrich congenital muscular dystrophy 2
p.Asp637Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp707Asn Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Asp785Glu Multiple submitters Bethlem myopathy 2 ⚠
p.Cys2739Arg Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gln1781Arg Multiple submitters Bethlem myopathy 2
p.Gln1811Arg Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gln1963Arg Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gln2120Glu Multiple submitters COL12A1-related disorder ⚠
p.Gln2187Lys Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gln2538Arg Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gln2607Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gln478His Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gln478Leu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Glu1073Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1173Gln Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu1197Gly Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Glu1429Val Multiple submitters Inborn genetic diseases ⚠
p.Glu1540Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1561Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu1868Gly Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Glu1868Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu1886Lys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Glu2036Asp Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Glu2355Asp Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Glu2543Gln Multiple submitters ⚠
p.Glu2639del Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu2639Lys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Glu464Gly Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu593Asp Multiple submitters Bethlem myopathy 2 ⚠
p.Glu611Gln Multiple submitters Ullrich congenital muscular dystrophy 2
p.Glu611Gly Multiple submitters Bethlem myopathy 2 ⚠
p.Glu716Ala Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Glu734Lys Multiple submitters Bethlem myopathy 2
p.Glu780Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu89Ala Multiple submitters COL12A1-related disorder ⚠
p.Glu89Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly1116Cys Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly1273Ala Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly1383Asp Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly1424Glu Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly1486Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly1704Glu Multiple submitters Bethlem myopathy 2
p.Gly1792Arg Multiple submitters Inborn genetic diseases
p.Gly1794Asp Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly1794Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly1833Asp Multiple submitters ⚠
p.Gly1920Asp Multiple submitters
p.Gly1959Glu Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2027Glu Multiple submitters Bethlem myopathy
p.Gly2050Trp Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2075Ser Multiple submitters Inborn genetic diseases
p.Gly2545Trp Multiple submitters Inborn genetic diseases
p.Gly2678Glu Multiple submitters Inborn genetic diseases
p.Gly2694Val Multiple submitters Inborn genetic diseases
p.Gly2730Glu Multiple submitters Bethlem myopathy 2 ⚠
p.Gly2798Arg Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly2803Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly2860Ala Multiple submitters Inborn genetic diseases
p.Gly2869Ala Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly2869Arg Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly2884Cys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly2962Ala Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly3027fs Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly3039Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly536Arg Multiple submitters Bethlem myopathy 2 ⚠
p.Gly65Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Gly671Ala Multiple submitters Bethlem myopathy 2 ⚠
p.Gly801Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Gly899Glu Multiple submitters Inborn genetic diseases
p.Gly934Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.His1638Pro Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.His1866Tyr Multiple submitters Bethlem myopathy 2
p.His2652Tyr Multiple submitters Ullrich congenital muscular dystrophy 2
p.His378Arg Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.His42Arg Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.His595Asn Multiple submitters COL12A1-related disorder
p.Ile107Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile1185Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile1210Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile1373Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile1980Arg Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile1980Lys Multiple submitters Bethlem myopathy 2
p.Ile1980Met Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2093Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile2124Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2410Thr Multiple submitters Bethlem myopathy 2 ⚠
p.Ile247Met Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile2482Met Multiple submitters Bethlem myopathy 2
p.Ile2482Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2497Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2580Val Multiple submitters Bethlem myopathy 2 ⚠
p.Ile2611Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2664Thr Multiple submitters
p.Ile2674Met Multiple submitters Inborn genetic diseases ⚠
p.Ile2674Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2680Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Ile2687Phe Multiple submitters Bethlem myopathy 2
p.Ile2708Val Multiple submitters Bethlem myopathy 2 ⚠
p.Ile2769Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2773Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile2916Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile341Met Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile35Val Multiple submitters Inborn genetic diseases
p.Ile711Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile793Asn Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Ile921Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu1240Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu1323Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu1564Ser Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu2004Pro Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu2023= Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu2192Phe Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Leu2203Ser Multiple submitters Bethlem myopathy 2
p.Leu547Phe Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu688Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu698Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu832Phe Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu895Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Leu942Pro Multiple submitters Bethlem myopathy 2 ⚠
p.Leu965Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Leu995Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Lys1042Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Lys1259Arg Multiple submitters Inborn genetic diseases
p.Lys1272Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Lys1511Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys157Glu Multiple submitters Inborn genetic diseases
p.Lys2287Glu Multiple submitters Bethlem myopathy 2 ⚠
p.Lys2287Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys2321Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Lys2442Arg Multiple submitters Bethlem myopathy 2 ⚠
p.Lys34Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Lys365Gln Multiple submitters ⚠
p.Lys408Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys421Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys468Arg Multiple submitters Ullrich congenital muscular dystrophy 2
p.Lys636Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys940Asn Multiple submitters Inborn genetic diseases
p.Lys951Glu Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Met1012Thr Multiple submitters Ullrich congenital muscular dystrophy 2
p.Met1183Arg Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Met1296Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Met1530Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Met1835Lys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Met2159Thr Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Met218Arg Multiple submitters Ullrich congenital muscular dystrophy 2
p.Met218Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Met2421Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Met545Val Multiple submitters Inborn genetic diseases
p.Met830Val Multiple submitters Inborn genetic diseases ⚠
p.Met961Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe1290Cys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Phe1671Leu Multiple submitters Inborn genetic diseases
p.Phe1877Val Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Phe2347Cys Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Phe2534Ser Multiple submitters Ullrich congenital muscular dystrophy 2 ⚠
p.Phe2635Leu Multiple submitters Ullrich congenital muscular dystrophy 2
p.Phe2644Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe497Val Multiple submitters Ullrich congenital muscular dystrophy 2
p.Phe70Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1057Ser Multiple submitters Bethlem myopathy 2
p.Pro1111Ala Multiple submitters Inborn genetic diseases
p.Pro1184Gln Multiple submitters Ullrich congenital muscular dystrophy 2