Sugi Variant

Sugi Variant/LIMS2

LIMS2 — 384 ClinVar variants

All ClinVar germline LIMS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 41 Benign · 6 Benign/Likely benign · 125 Likely benign · 205 Uncertain significance

Full LIMS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 149

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 114

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 34

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

All LIMS2 variants

Pathogenic 1

  • p.Leu323Pro No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2W

Likely pathogenic 2

  • c.238+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.His144fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W

Conflicting classifications of pathogenicity 4

  • c.12-6748A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asn165Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asn294Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Phe222fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W

Benign 41

Benign/Likely benign 6

  • c.360-4G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ala13= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg129Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp255= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Cys198= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Gly207= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W

Likely benign 125

  • c.11+1304C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.239-10C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.359+14G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.661-4G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asn12= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asp157= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Tyr309= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1267C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1274A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1326T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1328G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1345G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1349C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1350G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+16C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+16C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+7G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.12-16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.12-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.12-6727G>T Single submitter
  • c.12-6755G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.12-6758G>T Single submitter
  • c.171+14dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.171+17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.171+9_171+13del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.172-11C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.172-11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.172-12A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.172-13G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.172-14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.172-5T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.172-9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.238+15A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.238+8C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.238+8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.238+9G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.239-10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.239-14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.239-18G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.359+11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.359+12G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.359+1308C>T Single submitter
  • c.360-10C>T Single submitter
  • c.360-11G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.360-12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.360-4G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.360-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.509+11A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.509+12G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.509+15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.509+8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.509+9G>A Single submitter
  • c.510-11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.510-13C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.510-19G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.661-15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.661-17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.661-18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.661-19C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.661-7C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.753+8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.753+9G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.754-10C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.754-10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.754-13G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.754-15C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.754-17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.802+13G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.802+18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.802+7C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.802+7C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.802+9_802+10del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.803-13G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.803-5C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.878+17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.879-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ala118= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ala175= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ala212= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ala25= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg155= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg178= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg208= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg86= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asn165= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asn32Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asp148= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asp300= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asp8= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Cys140= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Cys245= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Cys280= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Cys283= Single submitter
  • p.Cys64= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Glu176= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Glu81= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Gly136= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Gly194= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Gly254= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Gly53= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.His66= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.His96= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ile83= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Leu109= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Leu213= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Leu316= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Lys137= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Lys181= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Lys229= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Phe253= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Phe299= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Pro303= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Pro313= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Pro51= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Pro74= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ser156= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ser270= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ser284= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ser340= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Thr327= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Val87= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.-3A>T No assertion criteria LIMS2-related disorder
  • p.Leu122= No assertion criteria LIMS2-related disorder

Uncertain significance 205

  • c.11+1287G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1305G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1332_11+1333dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.12-6769C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.754-2A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ala110Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ala212Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ala25Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ala44Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg101Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg101His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg124Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg129His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg129Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg142Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg142Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg178His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg17Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg202His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg203Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg208Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg235Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg235Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg27Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg48Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg61Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg86Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg86His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asn93Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asn94Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp267Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp300Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys201Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys224fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Gln251Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu149Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu176Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu179Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu206Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu246Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu265Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu52Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Gly119Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Gly207Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.His221Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu145Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu180Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu314Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu316Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu320_Leu323dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Lys116del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Lys322Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Met153Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Phe222Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Phe41Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Pro49Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Pro97Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Pro97Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ser270Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ser324Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ser78Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ser7Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ter342Xaa Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Tyr36Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Val14Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val195Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val195Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val210Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val256Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • c.11+1282G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1291C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1299G>A Single submitter
  • c.11+1305G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1330G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+1346A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.11+4A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.12-6748A>T Single submitter
  • c.12-6769C>T Single submitter
  • c.12-6780G>A Single submitter
  • c.12-6780G>T Single submitter
  • c.12-6783G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.12-6786A>C Single submitter
  • c.12-6795C>T Single submitter
  • c.12-6810G>C Single submitter
  • c.12-6816G>A Single submitter
  • c.238+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.238+4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.359+2701C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • c.509+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.509+3A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.661-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.753+5G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.754-9G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.803-3C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.878+5G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.879-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ala212Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ala212Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ala335Val Single submitter ⚠
  • p.Ala9Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg124Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg129Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg178Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg178Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg17His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg208Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg21Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg21His Single submitter ⚠
  • p.Arg21Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg319_Lys322del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg319Gln Single submitter ⚠
  • p.Arg319Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg329Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg329fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Arg329His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Arg329Pro Single submitter ⚠
  • p.Arg61Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asn294del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asn30Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asn5Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asn92Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp111Gly Single submitter ⚠
  • p.Asp111His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp148Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp157Asn Single submitter
  • p.Asp157Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asp255Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp255fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Asp255Glu Single submitter ⚠
  • p.Asp300His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp67Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Asp8Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys126Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys166Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys166Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys186Ser Single submitter ⚠
  • p.Cys189Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys245Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys40Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Cys64Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Cys79= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Gln332Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu172Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu206Asp Single submitter ⚠
  • p.Glu238Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu310Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu38Asp Single submitter ⚠
  • p.Glu52Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Glu57= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Gly113Asp Single submitter ⚠
  • p.Gly199Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Gly199Glu Single submitter ⚠
  • p.Gly254Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Gly53Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Gly80Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.His144Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.His168Gln Single submitter ⚠
  • p.His37Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.His66Arg Single submitter ⚠
  • p.His96Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ile197Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ile197Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ile84del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Leu112Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu152Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu173Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu184Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Leu54His Single submitter ⚠
  • p.Leu54Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Lys240Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Lys295Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Lys321Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Met153Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Met193Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Met1Lys Single submitter
  • p.Met301Val Single submitter
  • p.Met6Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Met6Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Met91Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Phe154Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Phe22Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Phe55Ser Single submitter ⚠
  • p.Phe82Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Pro333Leu Single submitter ⚠
  • p.Pro74Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ser23Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ser261Ile Single submitter
  • p.Ser31Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Ser31Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Ser328Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Thr167Ala Single submitter ⚠
  • p.Thr2= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Thr2Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Tyr309Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Tyr36Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Tyr56Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Tyr63Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • p.Val107Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val209Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val219Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val268Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val278Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W ⚠
  • p.Val42Met Single submitter ⚠
  • p.Val87Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2W
  • c.802+1G>A No assertion criteria neutropenia