Sugi Variant

Sugi Variant/TRAPPC11

TRAPPC11 — 976 ClinVar variants

All ClinVar germline TRAPPC11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 372 flagged for review →

29 Pathogenic · 13 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 22 Conflicting · 83 Benign · 18 Benign/Likely benign · 363 Likely benign · 424 Uncertain significance

Full TRAPPC11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 372

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 267

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 267

Predictors split 94

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

All TRAPPC11 variants

Pathogenic 29

  • p.Arg1065Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg48Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Arg568Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu430_Ile431insTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Lys724fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1893+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg296Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg725fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asn242fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asn378fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asp59delinsArgTer Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln351Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln606Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu256Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu412fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu461Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His210fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His875fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu860fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys305fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe1080fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe223fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ser921fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Thr21fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Trp397Ter Single submitter Inborn genetic diseases
  • p.Trp85Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val1026fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val124fs Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.661-1G>T No assertion criteria autosomal recessive limb-girdle muscular dystrophy type R18

Pathogenic/Likely pathogenic 13

  • c.1287+5G>A Multiple submitters TRAPPC11-related disorder
  • c.1568-1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg34Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg398Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg450Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln508Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gly980Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe1058fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe173fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Ser171fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Trp489Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Trp986Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Tyr856fs Multiple submitters Inborn genetic diseases

Likely pathogenic 24

  • c.1113+2T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1366+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln322Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1207+1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1287+1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1568-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.204+1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2694+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2852-1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2964-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.374+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.661-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.735-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.965+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln718Ter Single submitter
  • p.Gly580fs Single submitter
  • p.Ile579fs Single submitter
  • p.Leu172Ser Single submitter
  • p.Leu918fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys321delinsValTer Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys876Arg Single submitter ⚠
  • p.Ser574fs Single submitter
  • p.Thr999fs Single submitter TRAPPC11-related disorder
  • p.Tyr101Ter Single submitter TRAPPC11-related disorder

Conflicting classifications of pathogenicity 22

  • c.1208-4G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1894-10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.205-10A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2628+10del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3189+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.660+3G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala42= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg844Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp1041Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1127fs Single submitter muscular dystrophy, limb-girdle, autosomal recessive 23
  • p.Glu715Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.His315Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile927Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Leu311Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe723Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Phe8Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1005Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ser858= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Thr695Met Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr881Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr939= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val135Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠

Benign 83

Benign/Likely benign 18

  • c.1287+10G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1366+17G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1422-3G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.204+17G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2050-18C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.660+18A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.661-13del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.832-9A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala39= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala716Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg1110His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asn732= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys501= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro1031Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro1091= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro94= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val1007Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val828Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠

Likely benign 363

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

  • c.1113+16C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1207+15C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1208-14del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1208-5C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1422-17A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1422-18C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1567+116G>A Multiple submitters
  • c.1763-144T>C Multiple submitters
  • c.1894-18C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.204+45A>C Multiple submitters
  • c.2050-11T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2695-7G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2851+44G>A Multiple submitters
  • c.2851+47C>T Multiple submitters
  • c.445+106G>A Multiple submitters
  • c.445+10G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.446-6C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.-8T>C Multiple submitters
  • p.Asp38= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Cys117= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Cys448= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His1006= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His1035= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu1107= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu22= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu435= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys447= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe886Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro1021= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro922= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ser958= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Thr1114= Multiple submitters Inborn genetic diseases
  • p.Thr525= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Thr864= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Thr879= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Tyr465= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val137= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val948= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1113+10T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1113+17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1113+19A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1114-17T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1207+111G>T Single submitter
  • c.1207+17T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1208-14C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1208-150G>A Single submitter
  • c.1208-282G>A Single submitter
  • c.1287+10G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1287+14C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1287+17A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1288-15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1288-16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1288-20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1288-5A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1366+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1366+16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1367-20A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1367-4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1367-8C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1421+10G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1421+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1421+52A>T Single submitter
  • c.1421+8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1422-10_1422-9del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1422-10C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1422-8T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1568-11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1568-12_1568-9del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1568-9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1629+17TA[2] Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1629+8G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1630-14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1630-16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1630-4del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1762+12A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1762+14A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1762+8G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1893+10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1893+14G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1893+18T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1893+8T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1894-12C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1894-16del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1894-20C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1894-20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1894-7T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1894-9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.204+10T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.204+13T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.204+248dup Single submitter
  • c.204+34TC[4] Single submitter
  • c.204+7G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2049+10del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2049+174C>T Single submitter
  • c.205-10A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2050-13T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2050-15T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2050-16_2050-15insG Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2050-16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2050-17dup Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2050-6T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2237+10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2237+8T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2386+18dup Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2387-13T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2387-16A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2387-18C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2509-10T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2509-11T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2509-20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2628+10T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2628+16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2628+191A>G Single submitter
  • c.2628+222C>T Single submitter
  • c.2628+258C>T Single submitter
  • c.2628+264C>T Single submitter
  • c.2628+296G>C Single submitter
  • c.2629-174dup Single submitter
  • c.2629-18C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2629-20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2629-8T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2694+12T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2694+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2694+16G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2694+18A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2694+19T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2694+20A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2695-17A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2851+19C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2851+7C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2852-22A>G Single submitter
  • c.2852-24G>T Single submitter
  • c.2963+10A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2963+13T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2963+14C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2963+16A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2963+173G>A Single submitter
  • c.2963+64C>T Single submitter
  • c.2964-12C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2964-14C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2964-19A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3055+15A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3055+20A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3055+20A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3056-20T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3056-270dup Single submitter
  • c.3056-60G>A Single submitter
  • c.3190-13T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3190-14T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3190-162C>T Single submitter
  • c.3190-16del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3190-268G>T Single submitter
  • c.3190-7G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3357+13A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3357+9T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3358-18G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3358-9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.374+12T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.375-16del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.375-197A>T Single submitter
  • c.375-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.445+19A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.445+8A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.446-338T>C Single submitter
  • c.560+7A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.561-10T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.561-11G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.561-15T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.561-18T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.561-268dup Single submitter
  • c.561-274_561-268del Single submitter
  • c.660+19T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.660+9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.661-20A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.661-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.734+13T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.734+15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.734+21_734+24del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.735-11del Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.735-12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.735-7C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.831+16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.832-11A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.832-241A>G Single submitter
  • c.832-24T>G Single submitter
  • c.965+12A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.966-10T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.966-12C>G Single submitter
  • c.966-17A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.966-17A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.966-59A>G Single submitter
  • c.966-9T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.*10C>T Single submitter
  • c.*162T>C Single submitter
  • p.Ala1131= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala136= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala160= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala243= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala353= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala357= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala499= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala596= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala690= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala743= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala891= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg15= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg34= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg45= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg66= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg844= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg904= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asn1102= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asn369= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asn537= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asn544= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asn972= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asp1019= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asp380= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asp408= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asp942= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Cys967= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln241= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln284= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln458= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln943= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln954= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln966= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu116= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu150= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu156= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu203= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu314= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu359= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu412= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu61= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu945= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu957= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gly347= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gly849= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gly975= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His180= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His255= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His285= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His370= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile1002= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile1012= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile204= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile299= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile306= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile432= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile682= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile870= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile995= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu1004= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu103= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu1036= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu1061= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu1069= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu1077= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu1090= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu128= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu175= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu188= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu236= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu25= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu265= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu382= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu402= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu436= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu496= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu509= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu517= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu564= Single submitter
  • p.Leu659= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu667= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu689= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu729= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu837= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu90= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu902= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu913= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu92= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu944= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu96= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Leu965= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys1033= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys143= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys268= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys305= Single submitter
  • p.Lys335= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys467= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe1111= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe295= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe391= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Phe8= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro1005= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro1120= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro147= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro176= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Pro449= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18

Uncertain significance 424

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

  • c.1367-3T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2050-3T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.2851+5G>A Multiple submitters Inborn genetic diseases
  • c.3055+5C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3055+6G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.660+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.832-16A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • c.965+5G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala1085Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala1085Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala118Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala325Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala353Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala466Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala716Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala891Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg1025His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1065Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg15Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg15Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg360Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg44Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg450Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg484Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg48Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg568Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg721Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg844Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg844His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn1079Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn1105Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn163Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn575Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn634Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn693Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn693His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn800Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn950Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp151Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp300Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp390Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp552Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp709delinsGlyHis Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asp830Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp889Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Cys165Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln1074Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln141Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln220Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln352Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gln582Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln589Arg Multiple submitters Inborn genetic diseases
  • p.Gln947Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1010Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu1073Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu632Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu903Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gly1071Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly400Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gly415Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gly696Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.His1035Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.His255Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.His260Arg Multiple submitters Inborn genetic diseases
  • p.His260Asp Multiple submitters Inborn genetic diseases ⚠
  • p.His981Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile153Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile306Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile51Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile555Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile579Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile748Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile997Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Leu1014Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu406Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu691Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Leu854Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Leu917Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1062Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Lys277Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Lys277Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Lys361Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Lys510Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Lys64Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Lys724Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Lys893Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Met451Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Phe1103Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Phe899Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Pro1021Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro379Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro449Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1029Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ser155Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ser403Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ser407Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser71Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ser919Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser921Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ser929Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ser930Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ter1134Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Thr1072Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr1114Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr23= Multiple submitters
  • p.Thr470Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr498Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr745Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr83Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr83Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr884Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr915Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr926Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr989Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Thr999Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Trp488Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Trp6Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Tyr184Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Tyr251His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Tyr349Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Tyr446Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr464Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Tyr515His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Tyr515Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val1001Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Val1001Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Val36Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val388Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val426Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Val585Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val672Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Val807Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Val865Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Val892Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • c.1114-3C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1208-5C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1287+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1366+5G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1893+5T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.1893+6G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.2851+5G>T Single submitter Inborn genetic diseases
  • c.3189+4C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.3190-1G>C Single submitter
  • c.374+5G>C Single submitter
  • c.375-3C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.445+4T>A Single submitter Inborn genetic diseases
  • c.446-4A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.660+16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.660+4C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.660+5G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • c.832-3C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala1055Val Single submitter Inborn genetic diseases ⚠
  • p.Ala136Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala18Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala18Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala18Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala243Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala250Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ala271Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala31Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala39Thr Single submitter
  • p.Ala441Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala557Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala561Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala572Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala613Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala645Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala690Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala716Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala891Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala959Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala95Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ala978Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg1025Cys Single submitter ⚠
  • p.Arg1025Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg1065Gly Single submitter Inborn genetic diseases
  • p.Arg1067Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg1067Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg1109Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg1110Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg1110Ser Single submitter ⚠
  • p.Arg120Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg120Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg248Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg360Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg398Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg484Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg48Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg533Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg533Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Arg725Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg726Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg844Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg844Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg904Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg904Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg988Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Arg988Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn1011Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn1094Ser Single submitter ⚠
  • p.Asn1096Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn163Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn246Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn263Ser Single submitter ⚠
  • p.Asn369Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn378Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn540Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn540His Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn540Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asn950= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Asp104Asn Single submitter ⚠
  • p.Asp1126Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp1126Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp300Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp316Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp405Gly Single submitter Inborn genetic diseases
  • p.Asp477Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp511Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp529Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp554Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp583Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp608Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp677His Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp709Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Asp942Gly Single submitter ⚠
  • p.Cys117Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Cys279Arg Single submitter ⚠
  • p.Cys590Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Cys658Ser Single submitter ⚠
  • p.Cys698Tyr Single submitter ⚠
  • p.Cys872Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln1088Arg Single submitter ⚠
  • p.Gln129Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln220His Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln227Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln238Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln358His Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln362Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln385Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln458His Single submitter Inborn genetic diseases ⚠
  • p.Gln458Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln589His Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln606Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln704His Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gln777Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu1051Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu1075Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu194Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu314Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu423Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu550Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu641Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu733Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu73Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Glu838Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Glu878Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu957Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gly327Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly337= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gly393= Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gly573Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gly705Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gly706Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gly708Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Gly849Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Gly976Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His1035Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.His1035Gln Single submitter Inborn genetic diseases ⚠
  • p.His195Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.His255Arg Single submitter ⚠
  • p.His285Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.His428Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.His454Pro Single submitter Inborn genetic diseases ⚠
  • p.His595Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.His60Asp Single submitter ⚠
  • p.His89Arg Single submitter ⚠
  • p.His981Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile1008Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile1112Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile186Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile264Met Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile264Ser Single submitter ⚠
  • p.Ile292Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile299Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile306Met Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile539Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile539Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile579Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile739Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile740Met Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile740Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile76Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile861Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile870Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Ile882Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18
  • p.Ile984Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Leu1020Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Leu1042Val Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Leu214Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠
  • p.Leu222Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type R18 ⚠