Sugi Variant

Sugi Variant/LAMA2

LAMA2 — 5181 ClinVar variants

All ClinVar germline LAMA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1088 flagged for review →

400 Pathogenic · 111 Pathogenic/Likely pathogenic · 412 Likely pathogenic · 350 Conflicting · 169 Benign · 62 Benign/Likely benign · 2129 Likely benign · 1548 Uncertain significance

Full LAMA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1088

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 4

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

Predictors agree, ClinVar conflicts 159

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 159

Predictors lean, ClinVar uncertain 876

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 876

Predictors split 49

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

All LAMA2 variants

Pathogenic 400

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

  • c.112+2T>C Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.3924+2T>C Multiple submitters Muscular dystrophy, congenital, merosin deficient or partially deficient
  • c.396+1G>T Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.4058+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.4523+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.5234+1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.5562+5G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.7439+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.7898+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.910-1G>T Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2876fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg1029Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg1095Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg1319Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg1326Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg1350Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg1400Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg1450Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg148fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg1549Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg1566fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg1706Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg2156Ter Multiple submitters Qualitative or quantitative defects of merosin
  • p.Arg2319Ter Multiple submitters Exercise-induced myalgia
  • p.Arg2383Ter Multiple submitters LAMA2-related disorder
  • p.Arg2578Ter Multiple submitters LAMA2-related disorder
  • p.Arg273Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg744Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg84Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp2011fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp2498fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Asp496_Cys497insTer Multiple submitters Inborn genetic diseases
  • p.Cys1072fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Cys1079Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys314fs Multiple submitters Inborn genetic diseases
  • p.Cys865Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys967Ter Multiple submitters LAMA2-related disorder
  • p.Gln1240Ter Multiple submitters Qualitative or quantitative defects of merosin
  • p.Gln1273Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln1972Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gln565Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln854Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Gln95Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln988Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1310Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1684Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu2719Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Glu2917fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly1512fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gly2664fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gly600Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.His1097_Trp1098insTer Multiple submitters LAMA2-related muscular dystrophy
  • p.His3035fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile1210fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Ile1296fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile3033fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile419fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ile537fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile569fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu1581fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Leu2890fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu621fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Lys1753_Val1754insTer Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Lys2163fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Phe1267fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Phe1329Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2553fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2872fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ser421_Leu422insTer Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ser659Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Trp110Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Trp1311Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Trp1563Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Trp166Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Trp2357Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr121Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr1258fs Multiple submitters LAMA2-related disorder
  • p.Tyr1334Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr2069Ter Multiple submitters LAMA2-related disorder
  • p.Tyr2167Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr2230Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr2358Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr2645Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr784fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Val1572fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Val2148fs Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Val2793fs Multiple submitters LAMA2-related disorder
  • c.1027+1G>C Single submitter LAMA2-related muscular dystrophy
  • c.1027+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.112+1G>C Single submitter
  • c.1306+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.1307-2A>G Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.1467+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.1782+2T>G Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.2208+2T>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.2749+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.283+2T>C Single submitter LAMA2-related muscular dystrophy
  • c.3736-1G>C Single submitter LAMA2-related muscular dystrophy
  • c.396+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.397-4_478del Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.4312-1G>C Single submitter LAMA2-related muscular dystrophy
  • c.4312-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.4860+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.4860+2T>C Single submitter LAMA2-related muscular dystrophy
  • c.4959+1del Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.5071+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.5234+1G>C Single submitter LAMA2-related muscular dystrophy
  • c.6268+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.639+2T>A Single submitter
  • c.640-1G>A Single submitter Congenital Muscular Dystrophy, LAMA2-related
  • c.6993-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.7156-5_7157delinsT Single submitter LAMA2-related muscular dystrophy
  • c.7452-1G>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.7572+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.7572+2T>G Single submitter LAMA2-related muscular dystrophy
  • c.7573-1G>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.819+2T>C Single submitter LAMA2-related muscular dystrophy
  • c.8244+1G>C Single submitter LAMA2-related muscular dystrophy
  • c.8244+1G>T Single submitter Inborn genetic diseases
  • c.8245-1G>C Single submitter
  • c.8547+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.8547+2T>C Single submitter LAMA2-related muscular dystrophy
  • c.8988+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.8989-15T>G Single submitter LAMA2-related muscular dystrophy
  • c.910-1G>A Single submitter LAMA2-related muscular dystrophy
  • c.9211+1G>A Single submitter LAMA2-related muscular dystrophy
  • p.Ala1292fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala143fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala1786fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala1927fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala2025fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala2081fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala2095fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala2464_Asp2465insTer Single submitter LAMA2-related muscular dystrophy
  • p.Ala3048fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala343_Cys344insTer Single submitter LAMA2-related muscular dystrophy
  • p.Ala555fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg1350fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg1508Thr Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1674Ter Single submitter LAMA2-related muscular dystrophy
  • p.Arg1712fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg2001fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Arg2108fs Single submitter
  • p.Arg222fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg2383fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg2643fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg2643Ter Single submitter LAMA2-related muscular dystrophy
  • p.Arg2675fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg2794fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Arg331Ter Single submitter LAMA2-related muscular dystrophy
  • p.Arg434fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg619fs Single submitter
  • p.Arg947_Cys948insTer Single submitter LAMA2-related muscular dystrophy
  • p.Asn1061fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn1478fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn1765fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn1810fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn1850fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn1916fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn2004fs Single submitter
  • p.Asn2457fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn2648_Leu2649insTer Single submitter LAMA2-related muscular dystrophy
  • p.Asn2704fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn303fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp2039fs Single submitter LAMA2-related muscular dystrophy
  • p.Asp2309Ter Single submitter LAMA2-related muscular dystrophy
  • p.Asp2336fs Single submitter LAMA2-related muscular dystrophy
  • p.Asp2403fs Single submitter LAMA2-related muscular dystrophy
  • p.Asp267Asn Single submitter LAMA2-related muscular dystrophy
  • p.Asp2706fs Single submitter LAMA2-related muscular dystrophy
  • p.Asp356Ter Single submitter LAMA2-related muscular dystrophy
  • p.Asp429fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp559fs Single submitter LAMA2-related muscular dystrophy
  • p.Asp949delinsGluTer Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys1062Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys1106_Asp1107delinsTer Single submitter LAMA2-related muscular dystrophy
  • p.Cys1125fs Single submitter LAMA2-related muscular dystrophy
  • p.Cys1451delinsTrpTer Single submitter LAMA2-related muscular dystrophy
  • p.Cys1539fs Single submitter LAMA2-related muscular dystrophy
  • p.Cys1546Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys1557Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys2710fs Single submitter LAMA2-related muscular dystrophy
  • p.Cys2909Arg Single submitter LAMA2-related muscular dystrophy
  • p.Cys314Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys344fs Single submitter
  • p.Cys393Gly Single submitter LAMA2-related muscular dystrophy
  • p.Cys416Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys469fs Single submitter LAMA2-related muscular dystrophy
  • p.Cys807Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys847Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys862Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys86Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys969Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1007fs Single submitter LAMA2-related muscular dystrophy
  • p.Gln1174Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln1192Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1203Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1298Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln131Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1404Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1421Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1440Ter Single submitter Abnormality of the musculature
  • p.Gln1467Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln1504Ter Single submitter
  • p.Gln1666fs Single submitter LAMA2-related muscular dystrophy
  • p.Gln167Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln2043Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln2104Ter Single submitter
  • p.Gln2136Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln21Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln2342Ter Single submitter
  • p.Gln23Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln2433Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln2445fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln2924fs Single submitter LAMA2-related muscular dystrophy
  • p.Gln3049fs Single submitter LAMA2-related muscular dystrophy
  • p.Gln36Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln508Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln558Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln82Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln936Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1092fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu1216Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1449Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1528fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu1570Ter Single submitter
  • p.Glu1577Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1630fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Glu1646Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Glu1662Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu175Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1766Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1869Ter Single submitter
  • p.Glu1944Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1990Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu213fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu2322fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu2641Ter Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Glu2656Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu2726fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu3047Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu430Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Glu615Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu628fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu657Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly105Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly1087fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly1500Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly16fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly19fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly2064fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly2213fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly2314Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly2593fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly2883Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly2989fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly376fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly751fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly834Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly841fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly884fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly973fs Single submitter
  • p.His1621fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.His3026fs Single submitter Abnormality of the musculature
  • p.His3035delinsTrpThrMetAlaTer Single submitter LAMA2-related muscular dystrophy
  • p.His34fs Single submitter LAMA2-related muscular dystrophy
  • p.His580fs Single submitter LAMA2-related muscular dystrophy
  • p.Ile119fs Single submitter
  • p.Ile2026fs Single submitter LAMA2-related muscular dystrophy
  • p.Ile2091fs Single submitter LAMA2-related muscular dystrophy
  • p.Ile2162fs Single submitter LAMA2-related muscular dystrophy
  • p.Ile2197fs Single submitter LAMA2-related muscular dystrophy
  • p.Ile2550fs Single submitter LAMA2-related disorder
  • p.Ile2609fs Single submitter
  • p.Ile2727fs Single submitter LAMA2-related muscular dystrophy
  • p.Ile626fs Single submitter LAMA2-related muscular dystrophy
  • p.Ile85fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu1110fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Leu1188fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Leu1414fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu1586Ter Single submitter LAMA2-related muscular dystrophy
  • p.Leu1789_Leu1790insTer Single submitter LAMA2-related muscular dystrophy
  • p.Leu179delinsSerAlaTer Single submitter
  • p.Leu218fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu2473fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu2523fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu2552fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu3039fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu474fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu578fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu681fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu681Ter Single submitter LAMA2-related muscular dystrophy
  • p.Lys1252fs Single submitter Inborn genetic diseases
  • p.Lys1719fs Single submitter LAMA2-related muscular dystrophy
  • p.Lys1756Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Lys1932fs Single submitter LAMA2-related muscular dystrophy
  • p.Lys2084Ter Single submitter LAMA2-related muscular dystrophy
  • p.Lys2851fs Single submitter
  • p.Lys2996Ter Single submitter LAMA2-related muscular dystrophy
  • p.Phe1545fs Single submitter LAMA2-related muscular dystrophy

Pathogenic/Likely pathogenic 111

  • c.112+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.1206+1del Multiple submitters LAMA2-related muscular dystrophy
  • c.1306+2T>G Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.1467+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.1467+2T>C Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.1884+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.2322+1G>C Multiple submitters LAMA2-related muscular dystrophy
  • c.2749+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.2749+1G>C Multiple submitters LAMA2-related muscular dystrophy
  • c.2749+2dup Multiple submitters LAMA2-related muscular dystrophy
  • c.2750-1G>C Multiple submitters LAMA2-related muscular dystrophy
  • c.283+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.3037+1G>T Multiple submitters LAMA2-related muscular dystrophy
  • c.3038-7G>A Multiple submitters LAMA2-related disorder
  • c.3556-13T>A Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.3736-2A>T Multiple submitters LAMA2-related muscular dystrophy
  • c.4524-2A>T Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.4717+1G>T Multiple submitters LAMA2-related disorder
  • c.5562+5G>C Multiple submitters LAMA2-related disorder
  • c.5866-1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.5866-2A>G Multiple submitters LAMA2-related disorder
  • c.6268+2T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.6429+1G>A Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.6429+1G>T Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.6993-2A>C Multiple submitters LAMA2-related muscular dystrophy
  • c.7155+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.8244+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.8244+3_8244+6del Multiple submitters LAMA2-related muscular dystrophy
  • c.8703+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1696fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1952fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2753fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ala588fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ala5fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg1277Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg1508Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1826Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg2604Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg2630Ter Multiple submitters LAMA2-related disorder
  • p.Arg2897Ter Multiple submitters LAMA2-related disorder
  • p.Arg2898fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg3085Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg362Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg434Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg435Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg553Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg683fs Multiple submitters LAMA2-related disorder
  • p.Asn2173_Val2174insTer Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp1902fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Asp2274fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Asp2513fs Multiple submitters LAMA2-related disorder
  • p.Cys1079Arg Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys1970Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Cys287Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys757Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys886Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln1078Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Gln1626Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gln1666Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln21fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln2730Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Gln2924Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln576fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln946Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1680Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1708Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Glu1792Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Glu1868Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Glu618Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Glu795Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly291fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly3067fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly62Ter Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.His2627Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ile2508fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile2544fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Leu1776fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Leu2012_Leu2013insTer Multiple submitters Abnormality of the musculature
  • p.Leu2023fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu2102Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu2460fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Lys1043fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Lys1058Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys1208fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Lys1561fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys1620= Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys1620Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys431Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Met1Thr Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Phe2206fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Phe2299fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Phe852fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Phe972fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Pro2699fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser1427fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ser2149fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ser2428Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ser2625fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ser3050fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser607_Tyr608insTer Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Thr2556fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr313fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr461fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr821Pro Multiple submitters LAMA2-related muscular dystrophy
  • p.Trp2208Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Tyr168Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr2348fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Tyr276Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr583Ter Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr690fs Multiple submitters LAMA2-related disorder
  • p.Val2172del Multiple submitters congenital merosin-deficient muscular dystrophy 1A

Likely pathogenic 412

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

  • c.1028-1G>A Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.1884+2T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.1885-1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.2323-1G>T Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.2323-2A>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2450+1G>C Multiple submitters LAMA2-related muscular dystrophy
  • c.2538-1G>C Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.3555+1G>A Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.3556-1G>C Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.3735+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.4176+1G>A Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.4717+1G>C Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.4861-2A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.5235-1G>A Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.5445+1G>A Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.5563-1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.5865+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.6430-2A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.6573+1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.6992+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.7301-1G>A Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.7440-1G>A Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.7749+1G>C Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • c.8076-1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.820-1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.8857+1G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.8858-1G>A Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Cys1420fs Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Gln1007Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Gln1437= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln23fs Multiple submitters LAMA2-related disorder
  • p.Gln2846Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Glu1649Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.His2848Gln Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys594fs Multiple submitters LAMA2-related disorder
  • p.Phe2458fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr3080fs Multiple submitters LAMA2-related muscular dystrophy
  • p.Trp2229Ter Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Val1941fs Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.1027+1G>A Single submitter
  • c.1027+2T>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.112+1G>T Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.112+2_112+12del Single submitter LAMA2-related muscular dystrophy
  • c.113-1G>T Single submitter
  • c.113-2A>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.113-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.1206+2T>A Single submitter LAMA2-related muscular dystrophy
  • c.1207-1G>A Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.1207-1G>T Single submitter LAMA2-related muscular dystrophy
  • c.1207-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.1307-1G>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.1782_1782+1delinsT Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.1782+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.1782+2_1782+4del Single submitter LAMA2-related muscular dystrophy
  • c.1782+2_1782+6delinsCC Single submitter
  • c.1783-1G>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.1783-1G>C Single submitter LAMA2-related muscular dystrophy
  • c.1783-2A>G Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.1884+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.1885-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.2096+1G>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.2322+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.2322+2T>C Single submitter LAMA2-related muscular dystrophy
  • c.2323-1G>A Single submitter LAMA2-related muscular dystrophy
  • c.2451-1del Single submitter LAMA2-related muscular dystrophy
  • c.2528_2537+15del Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.2537+1G>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.283+2T>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.2856+1068G>A Single submitter Inborn genetic diseases
  • c.2856+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.2856+1G>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.2856+2T>C Single submitter LAMA2-related muscular dystrophy
  • c.3037+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.3411+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.3412-2A>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.3556-2A>T Single submitter LAMA2-related muscular dystrophy
  • c.3924+1G>A Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.3925-2A>G Single submitter
  • c.397-35_397del Single submitter
  • c.4059-1G>A Single submitter LAMA2-related muscular dystrophy
  • c.4311+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.4436_4436+35del Single submitter LAMA2-related muscular dystrophy
  • c.4437-1G>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.4437-2A>C Single submitter LAMA2-related muscular dystrophy
  • c.4717+2T>A Single submitter LAMA2-related muscular dystrophy
  • c.4860+1del Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.4860+1G>T Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.4959+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.4960-1G>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.4960-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.5072-539_5098del Single submitter LAMA2-related muscular dystrophy
  • c.5445+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.5446-2016A>G Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.5446-2A>C Single submitter LAMA2-related muscular dystrophy
  • c.5563-2A>G Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.5726+1G>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.5727-1G>A Single submitter LAMA2-related muscular dystrophy
  • c.5727-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.5968+1G>A Single submitter LAMA2-related muscular dystrophy
  • c.5969-1G>A Single submitter LAMA2-related muscular dystrophy
  • c.5969-1G>C Single submitter LAMA2-related muscular dystrophy
  • c.6080_6085+1del Single submitter LAMA2-related muscular dystrophy
  • c.6085+1_6085+38delinsTTT Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.6085+2T>A Single submitter LAMA2-related muscular dystrophy
  • c.6086-2A>C Single submitter LAMA2-related muscular dystrophy
  • c.6086-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.6269-1G>C Single submitter LAMA2-related muscular dystrophy
  • c.6269-2A>C Single submitter LAMA2-related muscular dystrophy
  • c.6272_6274+3del Single submitter LAMA2-related muscular dystrophy
  • c.6274+2T>G Single submitter LAMA2-related muscular dystrophy
  • c.6275-1G>T Single submitter LAMA2-related muscular dystrophy
  • c.6275-2A>T Single submitter LAMA2-related muscular dystrophy
  • c.639+1del Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.640-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.6430-19_6461del Single submitter LAMA2-related muscular dystrophy
  • c.6573+1G>C Single submitter LAMA2-related muscular dystrophy
  • c.6707+1G>T Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.6708-1G>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.6992+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.6993-1_6993delinsTG Single submitter LAMA2-related muscular dystrophy
  • c.6993-1G>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.7300+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.7300+2T>G Single submitter LAMA2-related muscular dystrophy
  • c.7440-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.7572+2T>C Single submitter
  • c.7573-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.7573-2A>T Single submitter LAMA2-related muscular dystrophy
  • c.7749+1G>T Single submitter LAMA2-related muscular dystrophy
  • c.7750-2A>G Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.7899-1G>A Single submitter LAMA2-related muscular dystrophy
  • c.7899-1G>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.7899-2_7902del Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.8075+1G>A Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.8358-1del Single submitter LAMA2-related muscular dystrophy
  • c.8548-2A>G Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.8703+1del Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.8703+1G>C Single submitter LAMA2-related muscular dystrophy
  • c.8703+2T>G Single submitter LAMA2-related muscular dystrophy
  • c.8849_8857+1del Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.8989-1G>C Single submitter
  • c.909+1G>A Single submitter LAMA2-related disorder
  • c.909+2T>A Single submitter LAMA2-related muscular dystrophy
  • c.909+7A>G Single submitter LAMA2-related muscular dystrophy
  • c.9212-2A>C Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Ala1013_Cys1014insTer Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Ala1565fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Ala1709fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Ala170fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala1942fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Ala2253_Ser2258del Single submitter
  • p.Ala2381fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala2811fs Single submitter LAMA2-related muscular dystrophy
  • p.Ala343Ser Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Arg1322Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Arg1366fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Arg1729fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg1762fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg2239_Gly2241del Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Arg2239fs Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg244fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg2612Ter Single submitter LAMA2-related muscular dystrophy
  • p.Arg264Ter Single submitter LAMA2-related muscular dystrophy
  • p.Arg399fs Single submitter LAMA2-related muscular dystrophy
  • p.Arg96Ter Single submitter LAMA2-related muscular dystrophy
  • p.Asn1047fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn1732fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asn1781fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asn220fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asn2591fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn2771fs Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Asn2868fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn55fs Single submitter LAMA2-related muscular dystrophy
  • p.Asn870fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp1222_Leu1223insTer Single submitter
  • p.Asp1328fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp1381fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp1585fs Single submitter LAMA2-related muscular dystrophy
  • p.Asp1688fs Single submitter LAMA2-related muscular dystrophy
  • p.Asp1947fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp2029_Gln2035delinsAla Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp2880fs Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Asp2986fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp547fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp631fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Asp908fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys1011Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys1032fs Single submitter
  • p.Cys1041Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys1081Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys1090Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys1148Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys1380fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys1380Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys1382Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys1429fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys1466fs Single submitter LAMA2-related muscular dystrophy
  • p.Cys1497Ter Single submitter
  • p.Cys2683Ter Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Cys318fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys322Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys426Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys442Trp Single submitter LAMA2-related muscular dystrophy
  • p.Cys456fs Single submitter LAMA2-related muscular dystrophy
  • p.Cys488Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys500Tyr Single submitter
  • p.Cys520Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys776Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys835fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys835Ter Single submitter
  • p.Cys901Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys930fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys930Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys937_Glu938delinsTer Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys937Ter Single submitter LAMA2-related muscular dystrophy
  • p.Cys969Tyr Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Cys979_Glu980delinsTer Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys996Tyr Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gln1213fs Single submitter
  • p.Gln1440fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln1525Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1626fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln1723Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln1860Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1892fs Single submitter LAMA2-related muscular dystrophy
  • p.Gln1892Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln1972fs Single submitter LAMA2-related muscular dystrophy
  • p.Gln2035Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln2638Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln2653Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln2670Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln2857Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln32Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln538Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln557fs Single submitter LAMA2-related muscular dystrophy
  • p.Gln576Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln863Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gln984Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1141fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu1363Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Glu1432Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1487Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1502Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1526Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1613Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1748Ter Single submitter LAMA2-related disorder
  • p.Glu1764fs Single submitter
  • p.Glu1857fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu1951Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu213Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu231Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu2335fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Glu2447Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu2559Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu2965Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Glu2995Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Glu351Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu430fs Single submitter LAMA2-related muscular dystrophy
  • p.Glu611Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu612Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu648Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu64Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu658fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Glu706Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu802Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu928fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly1209fs Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gly1521Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly1544Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly1638delinsGluTer Single submitter LAMA2-related muscular dystrophy
  • p.Gly1665Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly1835fs Single submitter LAMA2-related disorder
  • p.Gly2187fs Single submitter LAMA2-related muscular dystrophy
  • p.Gly2202Val Single submitter
  • p.Gly2215Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly2582fs Single submitter LAMA2-related disorder
  • p.Gly284Arg Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly2889Arg Single submitter Abnormality of the musculature
  • p.Gly2889Glu Single submitter LAMA2-related muscular dystrophy
  • p.Gly374fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly503fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly62fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly6fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly799Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly841Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly853Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly904Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly907Ter Single submitter LAMA2-related muscular dystrophy
  • p.Gly935Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gly990Ter Single submitter LAMA2-related muscular dystrophy
  • p.His1097fs Single submitter LAMA2-related muscular dystrophy
  • p.His2848fs Single submitter LAMA2-related muscular dystrophy
  • p.His644fs Single submitter LAMA2-related muscular dystrophy
  • p.Ile3082delinsLeuAlaTer Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Leu1299Ter Single submitter LAMA2-related muscular dystrophy
  • p.Leu130fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu1384fs Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Leu2183Arg Single submitter Abnormality of the musculature
  • p.Leu2195Pro Single submitter
  • p.Leu2376fs Single submitter LAMA2-related muscular dystrophy
  • p.Leu2427fs Single submitter LAMA2-related muscular dystrophy

Conflicting classifications of pathogenicity 350

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

  • c.1027+3A>G Single submitter LAMA2-related muscular dystrophy
  • c.1467+12A>G Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.1782+10C>T Single submitter LAMA2-related muscular dystrophy
  • c.1782+14T>C Single submitter LAMA2-related muscular dystrophy
  • c.1885-15T>C Single submitter LAMA2-related muscular dystrophy
  • c.2209-6_2209-3del Single submitter LAMA2-related muscular dystrophy
  • c.2323-7T>G Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.2450+16A>G Single submitter LAMA2-related muscular dystrophy
  • c.2451-2A>G Single submitter LAMA2-related muscular dystrophy
  • c.2749+24C>A Single submitter
  • c.2856+13G>A Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.2857-13C>T Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.3555+10G>A Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.3555+7A>G Single submitter LAMA2-related muscular dystrophy
  • c.4176+9C>T Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.4312-19_4312-17del Single submitter
  • c.4436+5G>T Single submitter LAMA2-related muscular dystrophy
  • c.4436+6A>G Single submitter LAMA2-related muscular dystrophy
  • c.4436+8T>C Single submitter LAMA2-related muscular dystrophy
  • c.4717+4C>T Single submitter LAMA2-related muscular dystrophy
  • c.4959+6G>A Single submitter LAMA2-related muscular dystrophy
  • c.4959+6G>T Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.4959+8G>A Single submitter LAMA2-related muscular dystrophy
  • c.4960-17C>A Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.5071+3104del Single submitter LAMA2-related muscular dystrophy
  • c.5072-10C>A Single submitter LAMA2-related muscular dystrophy
  • c.5562+1G>A Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.6269-12A>C Single submitter LAMA2-related muscular dystrophy
  • c.6429+10T>G Single submitter LAMA2-related muscular dystrophy
  • c.6708-3A>C Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.6708-8C>G Single submitter LAMA2-related muscular dystrophy
  • c.6992+5G>A Single submitter LAMA2-related muscular dystrophy
  • c.7300+10T>A Single submitter LAMA2-related muscular dystrophy
  • c.7301-13_7301-10del Single submitter LAMA2-related muscular dystrophy
  • c.7440-9G>A Single submitter LAMA2-related muscular dystrophy
  • c.7898+12A>G Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.7899-3C>T Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.8075+2dup Single submitter LAMA2-related muscular dystrophy
  • c.8076-7C>G Single submitter LAMA2-related muscular dystrophy
  • c.819+7T>C Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.8244+2dup Single submitter congenital merosin-deficient muscular dystrophy 1A
  • c.8547+14G>A Single submitter LAMA2-related muscular dystrophy
  • c.8988+15T>C Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.8989-12C>G Single submitter LAMA2-related muscular dystrophy
  • c.9211+6T>C Single submitter Inborn genetic diseases
  • c.9212-11G>A Single submitter LAMA2-related muscular dystrophy
  • c.9212-1G>A Single submitter Inborn genetic diseases
  • c.-2C>A Single submitter
  • p.Ala1178Thr Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Ala137= Single submitter LAMA2-related muscular dystrophy
  • p.Ala137Thr Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Ala1486Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1496Val Single submitter congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Ala1793Thr Single submitter Inborn genetic diseases
  • p.Ala1897Thr Single submitter LAMA2-related muscular dystrophy
  • p.Ala2032Thr Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ala2093= Single submitter LAMA2-related muscular dystrophy
  • p.Ala2189= Single submitter LAMA2-related muscular dystrophy
  • p.Ala3005Val Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Ala301Val Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ala3054Glu Single submitter LAMA2-related muscular dystrophy
  • p.Ala457Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala50Val Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ala572Val Single submitter congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Ala5Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala5Thr Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ala718Glu Single submitter LAMA2-related muscular dystrophy
  • p.Ala763= Single submitter LAMA2-related muscular dystrophy
  • p.Ala763Val Single submitter LAMA2-related muscular dystrophy
  • p.Ala912= Single submitter LAMA2-related muscular dystrophy
  • p.Ala912Val Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ala961Thr Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1095Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1102His Single submitter Inborn genetic diseases ⚠
  • p.Arg1319Gln Single submitter congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Arg1402His Single submitter Inborn genetic diseases ⚠
  • p.Arg148Trp Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Arg1493Cys Single submitter Inborn genetic diseases
  • p.Arg1499Trp Single submitter LAMA2-related muscular dystrophy
  • p.Arg1566= Single submitter LAMA2-related muscular dystrophy
  • p.Arg1566Cys Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg156His Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1588Cys Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1627Trp Single submitter hypertrophic cardiomyopathy ⚠
  • p.Arg1674Lys Single submitter LAMA2-related muscular dystrophy
  • p.Arg1687Gln Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1687Trp Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1762Trp Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1773Trp Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1802Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg1826Gln Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1844Cys Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1844His Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg1844Ser Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Arg185Cys Single submitter LAMA2-related muscular dystrophy
  • p.Arg2001Lys Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg2108Trp Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg2200Cys Single submitter LAMA2-related muscular dystrophy
  • p.Arg2200His Single submitter LAMA2-related muscular dystrophy
  • p.Arg2216His Single submitter Inborn genetic diseases
  • p.Arg222Ser Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg2231His Single submitter LAMA2-related muscular dystrophy
  • p.Arg2236= Single submitter LAMA2-related muscular dystrophy
  • p.Arg2295Cys Single submitter LAMA2-related muscular dystrophy
  • p.Arg2295His Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Arg2353Cys Single submitter LAMA2-related muscular dystrophy
  • p.Arg2353His Single submitter Inborn genetic diseases
  • p.Arg2594Cys Single submitter LAMA2-related muscular dystrophy
  • p.Arg2594His Single submitter LAMA2-related muscular dystrophy
  • p.Arg2716His Single submitter Inborn genetic diseases ⚠
  • p.Arg2807Gly Single submitter LAMA2-related muscular dystrophy
  • p.Arg2897Gln Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg2898= Single submitter LAMA2-related muscular dystrophy
  • p.Arg2969Cys Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Arg3085Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg362Ile Single submitter Inborn genetic diseases ⚠
  • p.Arg369His Single submitter Inborn genetic diseases ⚠
  • p.Arg458Lys Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Arg499Cys Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Arg670His Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Arg79= Single submitter LAMA2-related muscular dystrophy
  • p.Arg79Lys Single submitter LAMA2-related muscular dystrophy
  • p.Arg826Gln Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Arg826Trp Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Arg998His Single submitter Inborn genetic diseases ⚠
  • p.Asn1005Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn1648= Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Asn181Ser Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asn2142= Single submitter LAMA2-related muscular dystrophy
  • p.Asn2169Ser Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asn2448= Single submitter LAMA2-related muscular dystrophy
  • p.Asn2912Asp Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asn3003Ser Single submitter Inborn genetic diseases
  • p.Asn680Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp1199= Single submitter LAMA2-related muscular dystrophy
  • p.Asp1222Glu Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Asp1491Asn Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asp173= Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Asp1837Asn Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asp1840Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1854= Single submitter LAMA2-related muscular dystrophy
  • p.Asp1987Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp2180Val Single submitter Inborn genetic diseases ⚠
  • p.Asp2221His Single submitter LAMA2-related muscular dystrophy
  • p.Asp2272= Single submitter LAMA2-related muscular dystrophy
  • p.Asp227Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp2403Asn Single submitter LAMA2-related muscular dystrophy
  • p.Asp2465= Single submitter LAMA2-related muscular dystrophy
  • p.Asp2513Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp2833Tyr Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Asp2880Asn Single submitter Inborn genetic diseases
  • p.Asp2921= Single submitter LAMA2-related muscular dystrophy
  • p.Asp2921Asn Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asp316Asn Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asp516His Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asp539His Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Asp560Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp768= Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Asp978Asn Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Cys1093= Single submitter LAMA2-related muscular dystrophy
  • p.Cys1448Arg Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Cys1466Tyr Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Cys411Ter Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Cys527Tyr Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Cys726Arg Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Cys809= Single submitter LAMA2-related muscular dystrophy
  • p.Cys862Arg Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Cys920Tyr Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gln1591Arg Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gln2043Arg Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gln2054Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln2857Arg Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Gln3049Glu Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gln3075Ter Single submitter LAMA2-related muscular dystrophy
  • p.Glu1121Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu1567Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1590Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1637Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1708Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1715Lys Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Glu1764Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu1764Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1766Gly Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Glu2623= Single submitter LAMA2-related muscular dystrophy
  • p.Glu2623Ala Single submitter Inborn genetic diseases
  • p.Glu2796Asp Single submitter congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Glu308Lys Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Glu755_Cys759delinsGly Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gly1002Ser Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Gly1142= Single submitter LAMA2-related muscular dystrophy
  • p.Gly1180Ala Single submitter LAMA2-related muscular dystrophy
  • p.Gly1488Arg Single submitter LAMA2-related muscular dystrophy
  • p.Gly1559Ser Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gly1824Ser Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gly2347Val Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gly2535Asp Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gly2547Glu Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Gly2561Ser Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Gly2859Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly2946Arg Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Gly2948Ser Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Gly436= Single submitter LAMA2-related muscular dystrophy
  • p.Gly59Glu Single submitter congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Gly747Ala Single submitter LAMA2-related muscular dystrophy
  • p.Gly794= Single submitter LAMA2-related muscular dystrophy
  • p.Gly838Glu Single submitter LAMA2-related muscular dystrophy
  • p.Gly850Val Single submitter Inborn genetic diseases ⚠
  • p.Gly923Ser Single submitter LAMA2-related muscular dystrophy ⚠
  • p.His1051= Single submitter LAMA2-related muscular dystrophy
  • p.His1082Tyr Single submitter Inborn genetic diseases ⚠
  • p.His1229Pro Single submitter LAMA2-related muscular dystrophy ⚠
  • p.His1337Arg Single submitter LAMA2-related muscular dystrophy ⚠
  • p.His1562Arg Single submitter LAMA2-related muscular dystrophy ⚠
  • p.His1896= Single submitter LAMA2-related muscular dystrophy
  • p.His2059Tyr Single submitter Inborn genetic diseases ⚠
  • p.His2417Arg Single submitter Inborn genetic diseases
  • p.His2748= Single submitter LAMA2-related muscular dystrophy
  • p.Ile1194= Single submitter LAMA2-related muscular dystrophy
  • p.Ile1210Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1596Val Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ile1838Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1853Arg Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Ile2002Met Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ile2224Thr Single submitter LAMA2-related muscular dystrophy
  • p.Ile2544Val Single submitter Inborn genetic diseases ⚠
  • p.Ile2609Thr Single submitter LAMA2-related muscular dystrophy
  • p.Ile2761Thr Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ile2842Val Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Ile2852del Single submitter LAMA2-related muscular dystrophy
  • p.Ile2993Val Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ile3088Val Single submitter Inborn genetic diseases ⚠
  • p.Ile569Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile606Val Single submitter congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Ile625Val Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ile717Val Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Ile85= Single submitter LAMA2-related muscular dystrophy
  • p.Leu1068Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu1195= Single submitter LAMA2-related muscular dystrophy
  • p.Leu1389Pro Single submitter LAMA2-related muscular dystrophy
  • p.Leu1776Pro Single submitter Inborn genetic diseases
  • p.Leu2016Ser Single submitter LAMA2-related muscular dystrophy
  • p.Leu2473= Single submitter LAMA2-related muscular dystrophy
  • p.Leu2496Phe Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Leu2523Val Single submitter Inborn genetic diseases ⚠
  • p.Leu2564Pro Single submitter congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Leu2660Ile Single submitter LAMA2-related muscular dystrophy
  • p.Leu2818Val Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Leu2822= Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Leu545Gln Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Leu705= Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Lys2117Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys2782Gln Single submitter LAMA2-related muscular dystrophy
  • p.Lys2782Glu Single submitter LAMA2-related muscular dystrophy
  • p.Lys467Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys787Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys890Asn Single submitter Inborn genetic diseases ⚠
  • p.Met1359Val Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Met2278Val Single submitter Inborn genetic diseases ⚠
  • p.Phe2184Ser Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Phe2371Cys Single submitter Inborn genetic diseases ⚠
  • p.Phe2371Val Single submitter Inborn genetic diseases ⚠
  • p.Phe2766= Single submitter LAMA2-related muscular dystrophy
  • p.Phe792= Single submitter LAMA2-related muscular dystrophy
  • p.Phe972Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Pro1215= Single submitter LAMA2-related muscular dystrophy
  • p.Pro1396= Single submitter LAMA2-related muscular dystrophy
  • p.Pro1531Arg Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Pro1550= Single submitter LAMA2-related muscular dystrophy
  • p.Pro208His Single submitter Inborn genetic diseases ⚠
  • p.Pro2115= Single submitter LAMA2-related muscular dystrophy
  • p.Pro2359Ser Single submitter Inborn genetic diseases
  • p.Pro25Leu Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Pro2671Thr Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Pro2735= Single submitter LAMA2-related muscular dystrophy
  • p.Pro2737= Single submitter LAMA2-related muscular dystrophy
  • p.Pro2823Ser Single submitter LAMA2-related muscular dystrophy
  • p.Pro3053Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro400Leu Single submitter LAMA2-related muscular dystrophy
  • p.Pro464Leu Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Pro549Ser Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ser1052Gly Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ser1434Leu Single submitter LAMA2-related muscular dystrophy
  • p.Ser146Cys Single submitter congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Ser146Phe Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Ser146Tyr Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Ser1823= Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Ser1851= Single submitter LAMA2-related muscular dystrophy
  • p.Ser1867= Single submitter LAMA2-related muscular dystrophy
  • p.Ser1878Phe Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Ser2188Asn Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Ser2212Cys Single submitter LAMA2-related muscular dystrophy ⚠
  • p.Ser2262= Single submitter LAMA2-related muscular dystrophy
  • p.Ser2373Leu Single submitter LAMA2-related muscular dystrophy
  • p.Ser2493= Single submitter LAMA2-related muscular dystrophy
  • p.Ser2625= Single submitter LAMA2-related muscular dystrophy
  • p.Ser277Leu Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Ser502= Single submitter Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Ser541Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser585= Single submitter congenital merosin-deficient muscular dystrophy 1A
  • p.Thr1027Ala Single submitter LAMA2-related muscular dystrophy

Benign 169

Benign/Likely benign 62

  • c.1028-4G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.112+33371C>T Multiple submitters
  • c.1206+11C>T Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.1467+38C>T Multiple submitters
  • c.1468-19T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.1885-11dup Multiple submitters LAMA2-related muscular dystrophy
  • c.2097-13T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.2323-18T>A Multiple submitters LAMA2-related muscular dystrophy
  • c.2323-19A>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2451-18G>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2857-14T>A Multiple submitters LAMA2-related muscular dystrophy
  • c.3556-15T>G Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.3736-16_3736-14del Multiple submitters LAMA2-related muscular dystrophy
  • c.3925-6T>A Multiple submitters LAMA2-related muscular dystrophy
  • c.396+8T>A Multiple submitters LAMA2-related muscular dystrophy
  • c.397-15G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.4312-16C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.4437-5T>A Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.4960-16G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.5969-4G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.6086-16C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.640-18A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.6429+8C>A Multiple submitters LAMA2-related muscular dystrophy
  • c.6430-5dup Multiple submitters LAMA2-related muscular dystrophy
  • c.7452-4A>C Multiple submitters LAMA2-related muscular dystrophy
  • c.8075+16C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.8075+20A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.8548-10T>C Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Ala225= Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Ala468Gly Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Arg1450Gln Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg2477Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg619His Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Arg919Leu Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn1099Ser Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Asn2843Ser Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Asp1222Gly Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp1490= Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Asp1707= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp2050= Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Asp2994= Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys1970Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys497= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln1071= Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1760= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly1584Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly600Arg Multiple submitters LAMA2-related muscular dystrophy
  • p.His644Asp Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile567= Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu1714= Multiple submitters LAMA2-related muscular dystrophy
  • p.Pro2615= Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Pro2919Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Pro2925Leu Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Pro810= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser529Asn Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Thr1205Ala Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Thr1664= Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr2263Met Multiple submitters Inborn genetic diseases
  • p.Val1138Met Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Val1692Leu Multiple submitters LAMA2-related muscular dystrophy
  • p.Val2217Ile Multiple submitters Inborn genetic diseases
  • p.Val3041= Multiple submitters LAMA2-related muscular dystrophy

Likely benign 2129

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

  • c.1207-64C>A Multiple submitters
  • c.1306+16G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.1307-117A>T Multiple submitters
  • c.1468-17C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.1468-56C>T Multiple submitters
  • c.1609-17T>G Multiple submitters LAMA2-related muscular dystrophy
  • c.1782+7C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.1783-114C>T Multiple submitters
  • c.1783-20A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.1783-85T>C Multiple submitters
  • c.1884+115A>T Multiple submitters
  • c.1884+50A>C Multiple submitters
  • c.1885-14T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.1885-19C>A Multiple submitters LAMA2-related muscular dystrophy
  • c.1885-86G>A Multiple submitters
  • c.2208+112G>T Multiple submitters
  • c.2209-20A>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2322+10C>G Multiple submitters LAMA2-related muscular dystrophy
  • c.2322+136C>A Multiple submitters
  • c.2451-18G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.2537+10T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.2537+12C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2538-16A>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2538-8T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.2750-17C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2856+20C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2857-10C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.2857-39T>C Multiple submitters
  • c.3038-8C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.3175-19G>C Multiple submitters LAMA2-related muscular dystrophy
  • c.3175-22G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.3175-25G>A Multiple submitters
  • c.3736-17T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.3925-15T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.397-14T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.397-9C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.4059-12C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.4059-20T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.4176+10C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.4177-73C>T Multiple submitters
  • c.4311+32C>G Multiple submitters
  • c.4311+8T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.4436+19A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.4437-13C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.4717+12_4717+20dup Multiple submitters LAMA2-related muscular dystrophy
  • c.4718-37G>A Multiple submitters
  • c.4960-9G>C Multiple submitters LAMA2-related muscular dystrophy
  • c.5071+12A>C Multiple submitters LAMA2-related muscular dystrophy
  • c.5071+13A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.5072-9C>A Multiple submitters LAMA2-related muscular dystrophy
  • c.5234+10T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.5234+11G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.5234+19A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.5446-116A>G Multiple submitters
  • c.5446-72G>T Multiple submitters
  • c.5727-27C>A Multiple submitters
  • c.5727-73C>T Multiple submitters
  • c.5865+15G>T Multiple submitters LAMA2-related muscular dystrophy
  • c.5866-15T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.5968+14T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.5969-5C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.5969-6T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.6085+17C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.6274+241C>T Multiple submitters
  • c.6274+24C>T Multiple submitters
  • c.640-9A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.6429+8C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.6430-18A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.6708-12G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.6992+56A>T Multiple submitters
  • c.7155+16A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.7155+9del Multiple submitters LAMA2-related muscular dystrophy
  • c.7156-21G>T Multiple submitters
  • c.7300+15T>A Multiple submitters LAMA2-related muscular dystrophy
  • c.7300+19A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.7300+38T>G Multiple submitters
  • c.7301-15C>G Multiple submitters LAMA2-related muscular dystrophy
  • c.7439+16T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.7451+112T>C Multiple submitters
  • c.7451+20A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.7452-9A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.7572+16A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.7573-9T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.7749+117G>A Multiple submitters
  • c.7749+80C>T Multiple submitters
  • c.7898+131C>T Multiple submitters
  • c.7898+7A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.7899-11T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.8075+18_8075+20del Multiple submitters LAMA2-related muscular dystrophy
  • c.8076-15A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.8244+13A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.8988+10A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.8988+19_8988+22dup Multiple submitters LAMA2-related muscular dystrophy
  • c.910-14del Multiple submitters LAMA2-related muscular dystrophy
  • c.9211+17C>T Multiple submitters LAMA2-related muscular dystrophy
  • c.9211+7G>T Multiple submitters LAMA2-related muscular dystrophy
  • c.-17del Multiple submitters
  • c.-99A>G Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Ala102= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1552= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1749= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1813= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1893= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1923= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2073= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2177= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2234= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2876= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala293= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala922= Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg1029= Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg29= Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg2969= Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg683= Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg919Cys Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn1022= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn1641= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn1916= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn1979= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn2045= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn2418= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp1987= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp2063= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp2907= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp2945= Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp3013= Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys1436= Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys2909= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln1421= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln1617= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln3024= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gln576= Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1121= Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1432= Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1913= Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu2218= Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu2392= Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu517= Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu755= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly1518= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly2347= Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly3113= Multiple submitters LAMA2-related muscular dystrophy
  • p.His1144= Multiple submitters LAMA2-related muscular dystrophy
  • p.His649= Multiple submitters LAMA2-related muscular dystrophy
  • p.His72= Multiple submitters LAMA2-related muscular dystrophy
  • p.His762= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile119= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile1287= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile136= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile875= Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu1105= Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu1602= Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu1643= Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu1803= Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu2113= Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu2746= Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu830= Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys1816= Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys1818= Multiple submitters LAMA2-related muscular dystrophy
  • p.Phe1169= Multiple submitters LAMA2-related muscular dystrophy
  • p.Phe1975= Multiple submitters LAMA2-related muscular dystrophy
  • p.Phe2206= Multiple submitters LAMA2-related muscular dystrophy
  • p.Pro189= Multiple submitters LAMA2-related muscular dystrophy
  • p.Pro2512= Multiple submitters LAMA2-related muscular dystrophy
  • p.Pro3017= Multiple submitters LAMA2-related muscular dystrophy
  • p.Pro3083= Multiple submitters LAMA2-related muscular dystrophy
  • p.Pro98= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser1128Gly Multiple submitters Inborn genetic diseases
  • p.Ser204= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2075= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2150= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser237= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2373= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2452= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2553= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2560= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2691= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser2799= Multiple submitters LAMA2-related muscular dystrophy
  • p.Ser317= Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr1036= Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr1048= Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr1205= Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr1655= Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr174= Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr2475= Multiple submitters LAMA2-related muscular dystrophy
  • p.Thr2896= Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr2402= Multiple submitters LAMA2-related muscular dystrophy
  • p.Tyr534= Multiple submitters LAMA2-related muscular dystrophy
  • p.Val2542= Multiple submitters LAMA2-related muscular dystrophy
  • p.Val73= Multiple submitters LAMA2-related muscular dystrophy
  • p.Val857= Multiple submitters LAMA2-related muscular dystrophy
  • c.1027+16G>T Single submitter LAMA2-related muscular dystrophy
  • c.1027+20A>G Single submitter LAMA2-related muscular dystrophy
  • c.1027+8C>G Single submitter LAMA2-related muscular dystrophy
  • c.1027+9T>C Single submitter LAMA2-related muscular dystrophy
  • c.1028-11C>T Single submitter
  • c.1028-12T>G Single submitter LAMA2-related muscular dystrophy
  • c.1028-5T>C Single submitter LAMA2-related muscular dystrophy
  • c.112+10A>T Single submitter LAMA2-related muscular dystrophy
  • c.112+14A>G Single submitter LAMA2-related muscular dystrophy
  • c.112+15T>C Single submitter LAMA2-related muscular dystrophy
  • c.112+19C>T Single submitter LAMA2-related muscular dystrophy
  • c.112+21del Single submitter LAMA2-related muscular dystrophy
  • c.112+7T>C Single submitter LAMA2-related muscular dystrophy
  • c.112+7T>G Single submitter LAMA2-related muscular dystrophy
  • c.112+8C>A Single submitter LAMA2-related muscular dystrophy
  • c.112+9G>A Single submitter LAMA2-related muscular dystrophy
  • c.113-11A>G Single submitter LAMA2-related muscular dystrophy
  • c.113-13C>A Single submitter LAMA2-related muscular dystrophy
  • c.113-14T>A Single submitter
  • c.113-166A>T Single submitter
  • c.113-16del Single submitter LAMA2-related muscular dystrophy
  • c.113-4T>G Single submitter LAMA2-related muscular dystrophy
  • c.113-8T>C Single submitter LAMA2-related muscular dystrophy
  • c.1206+10G>A Single submitter LAMA2-related muscular dystrophy
  • c.1206+11C>G Single submitter LAMA2-related muscular dystrophy
  • c.1206+8A>G Single submitter LAMA2-related muscular dystrophy
  • c.1206+9T>C Single submitter LAMA2-related muscular dystrophy
  • c.1207-10T>A Single submitter LAMA2-related muscular dystrophy
  • c.1207-10T>C Single submitter LAMA2-related muscular dystrophy
  • c.1207-134G>A Single submitter
  • c.1207-13A>C Single submitter LAMA2-related muscular dystrophy
  • c.1207-14A>G Single submitter LAMA2-related muscular dystrophy
  • c.1207-18T>C Single submitter LAMA2-related muscular dystrophy
  • c.1207-28G>A Single submitter
  • c.1207-5G>T Single submitter LAMA2-related muscular dystrophy
  • c.1207-6T>C Single submitter LAMA2-related muscular dystrophy
  • c.1306+10G>A Single submitter LAMA2-related muscular dystrophy
  • c.1306+16G>C Single submitter LAMA2-related muscular dystrophy
  • c.1306+20G>C Single submitter LAMA2-related muscular dystrophy
  • c.1307-11T>C Single submitter LAMA2-related muscular dystrophy
  • c.1307-14T>C Single submitter LAMA2-related muscular dystrophy
  • c.1307-16G>A Single submitter LAMA2-related muscular dystrophy
  • c.1307-19G>A Single submitter LAMA2-related muscular dystrophy
  • c.1307-284A>G Single submitter
  • c.1307-9T>A Single submitter LAMA2-related muscular dystrophy
  • c.1467+14T>C Single submitter LAMA2-related muscular dystrophy
  • c.1467+17A>G Single submitter LAMA2-related muscular dystrophy
  • c.1467+19T>G Single submitter LAMA2-related muscular dystrophy
  • c.1467+20A>C Single submitter LAMA2-related muscular dystrophy
  • c.1467+7T>G Single submitter LAMA2-related muscular dystrophy
  • c.1468-10_1468-9del Single submitter LAMA2-related muscular dystrophy
  • c.1468-10T>A Single submitter LAMA2-related muscular dystrophy
  • c.1468-147C>A Single submitter
  • c.1468-17C>A Single submitter LAMA2-related muscular dystrophy
  • c.1468-18A>G Single submitter LAMA2-related muscular dystrophy
  • c.1468-20A>G Single submitter LAMA2-related muscular dystrophy
  • c.1468-268C>T Single submitter
  • c.1468-55G>A Single submitter
  • c.1468-8A>G Single submitter LAMA2-related muscular dystrophy
  • c.1468-8A>T Single submitter LAMA2-related muscular dystrophy
  • c.1608+11_1608+12del Single submitter LAMA2-related muscular dystrophy
  • c.1608+14A>G Single submitter LAMA2-related muscular dystrophy
  • c.1608+16T>C Single submitter LAMA2-related muscular dystrophy
  • c.1608+17T>C Single submitter LAMA2-related muscular dystrophy
  • c.1608+18G>C Single submitter LAMA2-related muscular dystrophy
  • c.1608+9G>A Single submitter LAMA2-related muscular dystrophy
  • c.1608+9G>C Single submitter LAMA2-related muscular dystrophy
  • c.1608+9G>T Single submitter LAMA2-related muscular dystrophy
  • c.1609-10T>C Single submitter LAMA2-related muscular dystrophy
  • c.1609-15T>A Single submitter LAMA2-related muscular dystrophy
  • c.1609-17T>C Single submitter LAMA2-related muscular dystrophy
  • c.1609-18C>G Single submitter LAMA2-related muscular dystrophy
  • c.1609-20G>A Single submitter LAMA2-related muscular dystrophy
  • c.1609-255A>G Single submitter
  • c.1609-4T>G Single submitter LAMA2-related muscular dystrophy
  • c.1609-5C>T Single submitter LAMA2-related muscular dystrophy
  • c.1609-8T>G Single submitter LAMA2-related muscular dystrophy
  • c.1782+11G>A Single submitter LAMA2-related muscular dystrophy
  • c.1782+11G>C Single submitter LAMA2-related muscular dystrophy
  • c.1782+12C>G Single submitter LAMA2-related muscular dystrophy
  • c.1782+17T>G Single submitter LAMA2-related muscular dystrophy
  • c.1782+281A>G Single submitter
  • c.1782+7C>A Single submitter LAMA2-related muscular dystrophy
  • c.1782+9_1782+10delinsTA Single submitter LAMA2-related muscular dystrophy
  • c.1782+9A>G Single submitter LAMA2-related muscular dystrophy
  • c.1783-11C>T Single submitter LAMA2-related muscular dystrophy
  • c.1783-16A>G Single submitter LAMA2-related muscular dystrophy
  • c.1783-4G>A Single submitter LAMA2-related muscular dystrophy
  • c.1783-9G>A Single submitter LAMA2-related muscular dystrophy
  • c.1783-9G>C Single submitter LAMA2-related muscular dystrophy
  • c.1884+10T>G Single submitter LAMA2-related muscular dystrophy
  • c.1884+16C>T Single submitter LAMA2-related muscular dystrophy
  • c.1884+17A>G Single submitter LAMA2-related muscular dystrophy
  • c.1884+18T>C Single submitter LAMA2-related muscular dystrophy
  • c.1884+19G>C Single submitter LAMA2-related muscular dystrophy
  • c.1884+7T>A Single submitter LAMA2-related muscular dystrophy
  • c.1884+7T>C Single submitter LAMA2-related muscular dystrophy
  • c.1884+9C>T Single submitter LAMA2-related muscular dystrophy
  • c.1885-10C>T Single submitter LAMA2-related muscular dystrophy
  • c.1885-11T>C Single submitter LAMA2-related muscular dystrophy
  • c.1885-13_1885-11del Single submitter LAMA2-related muscular dystrophy
  • c.1885-13T>A Single submitter LAMA2-related muscular dystrophy
  • c.1885-13T>C Single submitter LAMA2-related muscular dystrophy
  • c.1885-15T>G Single submitter LAMA2-related muscular dystrophy
  • c.1885-19_1885-16del Single submitter LAMA2-related muscular dystrophy
  • c.1885-201C>T Single submitter
  • c.1885-234G>A Single submitter
  • c.1885-7C>T Single submitter LAMA2-related muscular dystrophy
  • c.1885-9C>T Single submitter LAMA2-related muscular dystrophy

Uncertain significance 1548

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

  • c.1608+3A>C Multiple submitters LAMA2-related muscular dystrophy
  • c.1782+4A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.2749+4_2749+15del Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.284-4A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.396+3A>G Multiple submitters LAMA2-related muscular dystrophy
  • c.4059-3T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.4717+5G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.5072-3C>A Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • c.5562+3G>T Multiple submitters LAMA2-related muscular dystrophy
  • c.6268+5G>C Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • c.6274+5G>A Multiple submitters LAMA2-related muscular dystrophy
  • c.6274+5G>T Multiple submitters LAMA2-related muscular dystrophy
  • c.7452-3T>C Multiple submitters LAMA2-related muscular dystrophy
  • c.8703+4A>C Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1045Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1115Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala137Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala1604Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala1628Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1675Thr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala1805Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala1846Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1898Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala1914Thr Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1945Pro Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala1945Thr Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Ala1967Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala1985_Asp1987dup Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2093Thr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala2141Thr Multiple submitters ⚠
  • p.Ala2234Pro Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Ala238Asp Multiple submitters ⚠
  • p.Ala238Thr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala2464Leu Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala253Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala2705Ser Multiple submitters Inborn genetic diseases
  • p.Ala2723Gly Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala2775Glu Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2920Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala293Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala2952Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala3048Thr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala33Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Ala586Leu Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala586Val Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala679Glu Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ala679Gly Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Ala708Thr Multiple submitters LAMA2-related muscular dystrophy
  • p.Ala941Thr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1029Gln Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Arg1102Cys Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Arg1102Leu Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1149Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1262Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1350Gln Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg1408Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg148Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1499Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1549Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1555Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1566His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1588Gly Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1670Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1762Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1762Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1773Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1802Cys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg185Leu Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg1960Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg2108Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2216Cys Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg2231Cys Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg2231Gly Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg2319Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2356His Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg2383Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg239Cys Multiple submitters congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Arg239His Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg239Pro Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg242His Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Arg249Cys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg24Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2630Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg2709Cys Multiple submitters Inborn genetic diseases
  • p.Arg2709His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2786His Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg2807Cys Multiple submitters Inborn genetic diseases
  • p.Arg2897Gly Multiple submitters Inborn genetic diseases
  • p.Arg3036Cys Multiple submitters Inborn genetic diseases
  • p.Arg3036His Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg3036Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg306His Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg362Leu Multiple submitters LAMA2-related muscular dystrophy
  • p.Arg434Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg455Gln Multiple submitters Inborn genetic diseases
  • p.Arg455Trp Multiple submitters Inborn genetic diseases
  • p.Arg499His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg553Pro Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg670Cys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg843Cys Multiple submitters Inborn genetic diseases
  • p.Arg843Ser Multiple submitters Inborn genetic diseases
  • p.Arg84Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg896Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg896Trp Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Arg919His Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Arg998Cys Multiple submitters Inborn genetic diseases
  • p.Asn101Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn1035Ser Multiple submitters Inborn genetic diseases
  • p.Asn1080Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asn1080Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asn1479Ser Multiple submitters ⚠
  • p.Asn1597Ile Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Asn1614Asp Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn1614Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn1693Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1693Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asn1979Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn2045Asp Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Asn2045Lys Multiple submitters LAMA2-related muscular dystrophy
  • p.Asn2061Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asn2173Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn2809Ser Multiple submitters Inborn genetic diseases
  • p.Asn303Thr Multiple submitters ⚠
  • p.Asn571Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asn870Ser Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Asn94Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1024Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1024Glu Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp1375Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp1540Glu Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Asp160Val Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp173Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1837Tyr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp1876Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp1993Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp2094Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp2094His Multiple submitters Inborn genetic diseases
  • p.Asp2111Val Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp226Asn Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp2292Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp2545Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp2620His Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp262Asn Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp2779Glu Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp280Gly Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp2880Tyr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp3013Ala Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp417Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp480Gly Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp510Gly Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp516Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp695Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp786Glu Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Asp833Gly Multiple submitters LAMA2-related muscular dystrophy
  • p.Asp880Gly Multiple submitters LAMA2-related muscular dystrophy
  • p.Cys1044Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Cys1106Tyr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Cys1136Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Cys1420Arg Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Cys1436Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Cys199Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Cys390Ser Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Cys414Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Cys520Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Cys773Tyr Multiple submitters ⚠
  • p.Gln131Leu Multiple submitters Inborn genetic diseases
  • p.Gln1364His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1617Arg Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gln1892Leu Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gln1899His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln2638Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln3075Lys Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency
  • p.Gln412Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln557Pro Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gln566Arg Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gln944Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu120Gln Multiple submitters Inborn genetic diseases
  • p.Glu120Lys Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1239Gly Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu1260Lys Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1308Gln Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu1630Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu1637Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1646Lys Multiple submitters Inborn genetic diseases
  • p.Glu1649Gln Multiple submitters congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Glu1649Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu1684Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu1720Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu1727Asp Multiple submitters congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Glu1727Gln Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu175Asp Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu1829Asp Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu1980Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu2320Asp Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu3110Lys Multiple submitters congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Glu424Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Glu517Val Multiple submitters Inborn genetic diseases
  • p.Glu736Gly Multiple submitters LAMA2-related muscular dystrophy
  • p.Glu795Lys Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly1154Arg Multiple submitters
  • p.Gly1154Val Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Gly1162Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly1170Ser Multiple submitters congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Gly1209Asp Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly1406Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly1500Arg Multiple submitters Inborn genetic diseases
  • p.Gly1515Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly1716Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1763Glu Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Gly2152Asp Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly2396Glu Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly2472Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2472Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2494Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2708Cys Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23 ⚠
  • p.Gly2767Arg Multiple submitters Inborn genetic diseases
  • p.Gly2800Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly2800Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2845Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly2941Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly3006Ser Multiple submitters Inborn genetic diseases
  • p.Gly3043Glu Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Gly402= Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gly440Glu Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly503Ser Multiple submitters Inborn genetic diseases
  • p.Gly729Val Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly747Cys Multiple submitters Inborn genetic diseases
  • p.Gly747Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Gly838Arg Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Gly850Asp Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly859Glu Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly924Val Multiple submitters LAMA2-related muscular dystrophy
  • p.Gly945Ser Multiple submitters congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.His1001Pro Multiple submitters Inborn genetic diseases ⚠
  • p.His1204Tyr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.His1229Tyr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.His1441Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.His1994Asn Multiple submitters Inborn genetic diseases ⚠
  • p.His207Asn Multiple submitters Inborn genetic diseases
  • p.His2261Arg Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.His3026Arg Multiple submitters LAMA2-related muscular dystrophy
  • p.His34Arg Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.His823Leu Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile1037Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile103Val Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Ile1304Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ile1354Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ile1377Thr Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile1917Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile2144Leu Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile2197Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ile2243Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ile2255Thr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ile2449Thr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ile2468Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile2544Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile2588Val Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Ile2655Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Ile266Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile2776Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile2808Val Multiple submitters Inborn genetic diseases
  • p.Ile288Met Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile2990Ser Multiple submitters LAMA2-related muscular dystrophy
  • p.Ile697Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1105Pro Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Leu11Pro Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Leu154Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1582Pro Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Leu1598Phe Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Leu1995Pro Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu2476Met Multiple submitters Inborn genetic diseases
  • p.Leu2509His Multiple submitters Congenital muscular dystrophy due to partial LAMA2 deficiency ⚠
  • p.Leu2509Phe Multiple submitters LAMA2-related muscular dystrophy
  • p.Leu2922Pro Multiple submitters Inborn genetic diseases
  • p.Leu3020Ser Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Leu3073Phe Multiple submitters muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Leu51Phe Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Leu561Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Leu595Phe Multiple submitters Inborn genetic diseases
  • p.Leu685Arg Multiple submitters congenital merosin-deficient muscular dystrophy 1A
  • p.Leu811Arg Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Leu830Val Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys1043Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Lys1756Asn Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Lys1889del Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys2033Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys2399Arg Multiple submitters LAMA2-related muscular dystrophy
  • p.Lys798Glu Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Met1221Arg Multiple submitters congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Met1221Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Met1247Ile Multiple submitters
  • p.Met1291Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Met1349Val Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Met1370del Multiple submitters LAMA2-related muscular dystrophy
  • p.Met1866Ile Multiple submitters congenital merosin-deficient muscular dystrophy 1A ⚠
  • p.Met2606Thr Multiple submitters LAMA2-related muscular dystrophy ⚠
  • p.Met2805Arg Multiple submitters LAMA2-related muscular dystrophy
  • p.Met2805Val Multiple submitters LAMA2-related muscular dystrophy
  • p.Phe1004Leu Multiple submitters Inborn genetic diseases
  • p.Phe1212Cys Multiple submitters Inborn genetic diseases