Sugi Variant

Sugi Variant/SGCD

SGCD — 795 ClinVar variants

All ClinVar germline SGCD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →

22 Pathogenic · 4 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 34 Conflicting · 57 Benign · 34 Benign/Likely benign · 274 Likely benign · 347 Uncertain significance

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

⚑ Evidence disagreements 188

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 5

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

Predictors lean, ClinVar uncertain 138

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

Predictors split 44

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

All SGCD variants

Pathogenic 22

  • p.Arg165Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg97Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp82_Ser83insTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr119fs Multiple submitters dilated cardiomyopathy 1L
  • p.Thr220fs Multiple submitters dilated cardiomyopathy 1L
  • p.Tyr23fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.382+1G>A Single submitter dilated cardiomyopathy
  • p.Ala169fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Arg163fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gln87fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Glu156Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Glu190Ter Single submitter Abnormality of the musculature
  • p.Glu218fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ile27fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu148Ter Single submitter
  • p.Leu164Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys58fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys58Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Phe139fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr180_Pro181insTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Trp30Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ala131Pro No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2F

Pathogenic/Likely pathogenic 4

  • p.Ala131fs Multiple submitters neuromuscular disease
  • p.Arg33Ter Multiple submitters SGCD-related disorder
  • p.Gln4Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu148fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F

Likely pathogenic 23

  • c.192+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.294+1G>A Multiple submitters neuromuscular disease
  • c.4-1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Glu262Lys Multiple submitters dilated cardiomyopathy 1L
  • c.295-1G>T Single submitter
  • c.382+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-1G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+1G>A Single submitter dilated cardiomyopathy 1L
  • p.Ala134fs Single submitter dilated cardiomyopathy 1L
  • p.Asn113fs Single submitter dilated cardiomyopathy 1L
  • p.Asn216Ile Single submitter dilated cardiomyopathy 1L ⚠
  • p.Gln124Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gln6fs Single submitter dilated cardiomyopathy 1L
  • p.Gly76fs Single submitter dilated cardiomyopathy 1L
  • p.Leu70fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys138fs Single submitter muscular dystrophy
  • p.Lys240fs Single submitter dilated cardiomyopathy 1L
  • p.Thr143fs Single submitter Abnormality of the musculature
  • c.699+1G>T No assertion criteria dilated cardiomyopathy 1L
  • p.Gly207fs No assertion criteria dilated cardiomyopathy 1L
  • p.Tyr23Ter No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2F

Conflicting classifications of pathogenicity 34

  • c.193-12G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-7A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+14G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.3+7A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-11A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-33CTCTCTAT[4] Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-1G>A Single submitter SGCD-related disorder
  • c.575+6C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+15G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.699+18C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.-135C>T Single submitter dilated cardiomyopathy 1L
  • c.-30G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.-44+11G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.-59G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ala134= Single submitter Inborn genetic diseases
  • p.Ala239= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ala278Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Arg31Gln Single submitter dilated cardiomyopathy 1L ⚠
  • p.Cys264= Single submitter Inborn genetic diseases
  • p.Gln283Arg Single submitter qualitative or quantitative defects of delta-sarcoglycan ⚠
  • p.Glu170= Single submitter Inborn genetic diseases
  • p.Gly76Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Leu41= Single submitter Inborn genetic diseases
  • p.Pro15= Single submitter Inborn genetic diseases
  • p.Pro181= Single submitter Inborn genetic diseases
  • p.Thr111= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr252= Single submitter Inborn genetic diseases
  • p.Thr256= Single submitter Inborn genetic diseases
  • p.Thr256Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Tyr23= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Tyr90= Single submitter Inborn genetic diseases
  • p.Val132Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Val265Ile Single submitter Inborn genetic diseases ⚠

Benign 57

Benign/Likely benign 34

  • c.294+8T>C Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.295-20C>A Multiple submitters dilated cardiomyopathy 1L
  • c.3+11C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+19C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+20G>A Multiple submitters dilated cardiomyopathy 1L
  • c.383-33CTCTCTAT[2] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+13_699+15del Multiple submitters dilated cardiomyopathy 1L
  • c.699+71G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.-626_-616del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*1373A>G Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*2365T>C Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*2712T>C Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*2A>C Multiple submitters cardiomyopathy
  • c.*3413G>C Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*360A>G Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*3650G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*3687A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*3898C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*3962G>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*4092A>G Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*4166T>C Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*4895G>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*5114C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*5990T>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*6665G>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*7300C>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*7596A>G Multiple submitters dilated cardiomyopathy 1L
  • c.*7814C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*822C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • p.Ala169= Multiple submitters Inborn genetic diseases
  • p.Arg97Gln Multiple submitters Cardiovascular phenotype
  • p.Glu5Asp Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • p.Ile210= Multiple submitters dilated cardiomyopathy 1L
  • p.Val48= Multiple submitters cardiomyopathy

Likely benign 274

  • c.-44+11_-44+13del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.192+121G>A Multiple submitters
  • c.193-17T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-98A>T Multiple submitters
  • c.294+120A>G Multiple submitters
  • c.294+15A>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-10C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+13C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-11G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-41G>T Multiple submitters
  • c.576-15T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.-404G>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • p.Ala131= Multiple submitters Inborn genetic diseases
  • p.Ala152= Multiple submitters Inborn genetic diseases
  • p.Ala214= Multiple submitters Inborn genetic diseases
  • p.Ala51= Multiple submitters Inborn genetic diseases
  • p.Arg198= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Asn155= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Asp117= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Cys266= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gln124= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Glu262= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gly128= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gly207= Multiple submitters Inborn genetic diseases
  • p.Gly279= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gly68= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu122= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu149= Multiple submitters Inborn genetic diseases
  • p.Leu236= Multiple submitters Inborn genetic diseases
  • p.Leu35= Multiple submitters Inborn genetic diseases
  • p.Leu57= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu79= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys130= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys235= Multiple submitters Inborn genetic diseases
  • p.Phe261= Multiple submitters Inborn genetic diseases
  • p.Pro196= Multiple submitters Inborn genetic diseases
  • p.Ser17= Multiple submitters Inborn genetic diseases
  • p.Thr197= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr53= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Tyr251= Multiple submitters Inborn genetic diseases
  • p.Val121= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Val59= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+11C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+12C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+13A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+14T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+14T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+18G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+19G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.192+20T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-12_193-10del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-125C>T Single submitter
  • c.193-12G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-138T>G Single submitter
  • c.193-16C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-18C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-20A>C Single submitter
  • c.193-20A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-20A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-7_193-4dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-8T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.193-9C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.294+134T>A Single submitter
  • c.294+14G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.294+16G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.294+18G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.294+20A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-14T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-15_295-13del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-15A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-20_295-17del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-20C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-4G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-90C>T Single submitter
  • c.3+11C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+11C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+13C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+14G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+14G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+152C>T Single submitter
  • c.3+15G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+16del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+17A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+19C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+19C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+20G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+8A>G Single submitter
  • c.382+11G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.382+12del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.382+12G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.382+16del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.382+67C>G Single submitter
  • c.383-10T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-11_383-4dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-11A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-11A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-12_383-11insCCTCTCT Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-15C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-15C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-19_383-16del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-19A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-19A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-20T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-328C>T Single submitter
  • c.383-7C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-9_383-8del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-9A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-9A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-11G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-121G>A Single submitter
  • c.4-12C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-13T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.4-169A>C Single submitter
  • c.4-7A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+11T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+12T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+12T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+13G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+13G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+15A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+17_502+19del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+18A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+19T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+19T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.502+246G>C Single submitter
  • c.502+250G>T Single submitter
  • c.503-10T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.503-11T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.503-13G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.503-13G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.503-18T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.503-19T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.503-20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.503-4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.575+10T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.575+12A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.575+14T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.575+15T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.575+16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.575+5A>T Single submitter
  • c.576-11del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-11G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-11G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-12G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-14_576-10del Single submitter
  • c.576-17T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-17T>C Single submitter
  • c.576-19G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-20C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-277T>C Single submitter
  • c.576-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.576-7T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+13A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+16G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+16G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+20G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+40T>G Single submitter
  • c.699+48G>A Single submitter
  • c.699+75T>C Single submitter
  • c.699+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+8del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-10_700-9del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-15A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-15A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-17C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-20T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-20T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-234dup Single submitter
  • c.700-6_700-3dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-8_700-5dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.700-8G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.-13G>T Single submitter
  • c.-80G>T Single submitter
  • c.*1112G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*150G>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*1578T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2236T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2697T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2814G>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*3292A>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4638C>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4A>G Single submitter
  • c.*5348T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6430G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6683T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7521G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • p.Ala161= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ala238= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ala276= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Arg11= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Arg242Lys Single submitter Inborn genetic diseases
  • p.Arg257= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Arg31= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Arg33= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Arg71= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Arg97= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Asn100= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Asn113= Single submitter Inborn genetic diseases
  • p.Asn182= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Asn49= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Asp186Glu Single submitter Inborn genetic diseases
  • p.Asp65= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Cys282= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Glu156= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Glu5= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Glu80= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gly16= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gly19= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gly269= Single submitter Inborn genetic diseases
  • p.Gly81= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ile94= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu102= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu125= Single submitter Inborn genetic diseases
  • p.Leu167= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu191= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu193= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu227= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu243= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu273= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu290= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu40= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu47= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu77= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu86= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Leu89= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys138= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys147= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys189= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys78= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Phe38= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Phe62= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Phe85= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Pro129= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Pro20= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Pro205= Single submitter Inborn genetic diseases
  • p.Pro3= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Pro88= Single submitter Inborn genetic diseases
  • p.Ser145= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ser177= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ser229= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ser83= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ser96= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Ter291= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr119= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr172= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr180= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr223= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr254= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr63= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Thr73= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Tyr135= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Tyr36= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Tyr7= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Val157= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Val159= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Val18= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Val22= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Val260= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Val288= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-34_383-28del No assertion criteria SGCD-related disorder
  • c.383-35_383-34insA No assertion criteria dilated cardiomyopathy 1L
  • c.383-40C>T No assertion criteria SGCD-related disorder
  • c.383-47CTCTCTC[4] No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-56TC[7] No assertion criteria SGCD-related disorder
  • c.383-56TC[9] No assertion criteria SGCD-related disorder
  • p.Thr281= No assertion criteria SGCD-related disorder

Uncertain significance 347

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

  • p.Arg31Gly Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg31Trp Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Ile64Thr Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • c.3+2T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+3G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+72A>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.-43-1G>A Multiple submitters dilated cardiomyopathy 1L
  • c.-44+1_-44+2dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.-44+2T>A Multiple submitters dilated cardiomyopathy 1L
  • c.*1047C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*158G>A Multiple submitters dilated cardiomyopathy 1L
  • c.*1719G>A Multiple submitters dilated cardiomyopathy 1L
  • c.*1856A>T Multiple submitters dilated cardiomyopathy 1L
  • c.*1906C>G Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*1907G>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*1990C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*2139C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*2604T>C Multiple submitters dilated cardiomyopathy 1L
  • c.*2797A>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*2813C>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*2814G>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*3580G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*3779T>C Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*3845T>C Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*440G>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*4608G>A Multiple submitters dilated cardiomyopathy 1L
  • c.*4935C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*4993A>C Multiple submitters dilated cardiomyopathy 1L
  • c.*5337G>A Multiple submitters dilated cardiomyopathy 1L
  • c.*5467G>C Multiple submitters dilated cardiomyopathy 1L
  • c.*5591G>A Multiple submitters dilated cardiomyopathy 1L
  • c.*5749C>T Multiple submitters dilated cardiomyopathy 1L
  • c.*5819G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*5884A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*5907T>C Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*6065A>G Multiple submitters dilated cardiomyopathy 1L
  • c.*6127G>A Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*6186C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*6223T>A Multiple submitters dilated cardiomyopathy 1L
  • c.*6518C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*6660dup Multiple submitters dilated cardiomyopathy 1L
  • c.*6664C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*6833G>A Multiple submitters dilated cardiomyopathy 1L
  • c.*7231A>T Multiple submitters dilated cardiomyopathy 1L
  • c.*7298A>C Multiple submitters dilated cardiomyopathy 1L
  • c.*7507A>G Multiple submitters dilated cardiomyopathy 1L
  • c.*753C>T Multiple submitters dilated cardiomyopathy 1L
  • c.*7559G>C Multiple submitters dilated cardiomyopathy 1L
  • c.*7566C>T Multiple submitters qualitative or quantitative defects of delta-sarcoglycan
  • c.*8110A>C Multiple submitters dilated cardiomyopathy 1L
  • c.*8356T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.*8380A>G Multiple submitters dilated cardiomyopathy 1L
  • c.*906C>T Multiple submitters dilated cardiomyopathy 1L
  • p.Ala134Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala161Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ala169Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ala239Val Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Ala267Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala278Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Arg11Gln Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Arg11Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg165Gln Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Arg198Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg270Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg33Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asn100His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Asn113His Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Asn211Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Asn268Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp153Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Asp186Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys289Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Cys34Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gln118Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln275Ter Multiple submitters
  • p.Gln95His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu233Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly171Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly26Glu Multiple submitters Inborn genetic diseases ⚠
  • p.His9Tyr Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Ile114Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ile126Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ile178Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile27Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile54Val Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Leu149Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Leu164Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Leu77Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Lys105Arg Multiple submitters ⚠
  • p.Lys105del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Lys120Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys189Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Lys206Glu Multiple submitters dilated cardiomyopathy 1L
  • p.Lys259del Multiple submitters dilated cardiomyopathy 1L
  • p.Lys92Gln Multiple submitters cardiomyopathy ⚠
  • p.Met14Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met1Val Multiple submitters dilated cardiomyopathy 1L
  • p.Phe139Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Phe38Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Pro187Ser Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Pro196Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Pro244Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Pro98Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ser145Cys Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Ser151Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ser151Phe Multiple submitters dilated cardiomyopathy 1L ⚠
  • p.Ser250Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Thr172Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Thr180Ser Multiple submitters dilated cardiomyopathy ⚠
  • p.Thr220Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Thr252Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr254Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Thr254Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Thr8Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr7His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Tyr90Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Val141Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Val159Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val183Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Val39Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • c.192+4A>G Single submitter
  • c.193-10T>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.193-63405A>G Single submitter dilated cardiomyopathy 1L
  • c.294+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.295-10C>T Single submitter
  • c.3+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.3+5G>A Single submitter
  • c.382+4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.383-14T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.503-9T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.575+3A>G Single submitter
  • c.699+3G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • c.699+49C>G Single submitter
  • c.699+61A>G Single submitter
  • c.699+76C>T Single submitter
  • c.699+77G>A Single submitter
  • c.700-1_703del Single submitter
  • c.-335T>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*1037C>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*1283C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*1358A>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*148G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*173T>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*1788G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*1871G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*1877G>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*1888G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2004G>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2089T>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2152T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2166A>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2316G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2476A>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2521T>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2720G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*2944G>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*317C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*3361T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*3420C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*3491G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*3656G>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*3868C>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*3961C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4089C>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4303T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4341dup Single submitter
  • c.*4389G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4451G>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4559C>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4696G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4786G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*4972A>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*5054G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*5061C>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*5197T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*5201T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*535C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*5415G>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*557A>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*560C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*561T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*5663A>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*5739A>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*5928G>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6016G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6064A>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6133A>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6261T>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6504T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6547G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6564T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6636G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6660del Single submitter
  • c.*6785C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6917C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*6985C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7022G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7196A>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7219G>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7489G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7506C>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*767A>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7815G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7871G>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*7877A>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*8041T>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*8112A>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*8114dup Single submitter
  • c.*817A>C Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*8239C>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*8239C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*8346G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*8351C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*8355C>T Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*882G>A Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • c.*944C>G Single submitter qualitative or quantitative defects of delta-sarcoglycan
  • p.Ala107Thr Single submitter ⚠
  • p.Ala152Val Single submitter Inborn genetic diseases ⚠
  • p.Ala169Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala238Ser Single submitter ⚠
  • p.Ala238Thr Single submitter ⚠
  • p.Ala239Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ala278Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ala91Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Arg108Gly Single submitter ⚠
  • p.Arg11Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg163Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Arg198Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Arg245Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Arg245Thr Single submitter ⚠
  • p.Asn100Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Asn109Thr Single submitter ⚠
  • p.Asn154Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Asn211His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Asn285fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Asp231Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Asp237Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp65Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Cys221Ser Single submitter qualitative or quantitative defects of delta-sarcoglycan ⚠
  • p.Cys221Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Cys221Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Cys264Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Cys264Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Cys266Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gln118His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gln258Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Gln87Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu133Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Glu156Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Glu170Asp Single submitter
  • p.Glu194dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F
  • p.Glu203Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu209Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Glu228Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly128Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly146Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly146Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly168Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly16Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly19Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly207Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly207Val Single submitter Inborn genetic diseases ⚠
  • p.Gly279Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly29= Single submitter
  • p.Gly29Ser Single submitter ⚠
  • p.Gly66Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly81Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly81del Single submitter
  • p.Gly99Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Gly99Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.His10Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.His248Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.His9Gln Single submitter Inborn genetic diseases ⚠
  • p.Ile178Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ile263Val Single submitter ⚠
  • p.Ile27Val Single submitter Inborn genetic diseases ⚠
  • p.Ile44Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ile44Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Ile46Val Single submitter Inborn genetic diseases ⚠
  • p.Ile64Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Leu125Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Leu35Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Leu41Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Leu41Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu42Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu70Pro Single submitter qualitative or quantitative defects of delta-sarcoglycan ⚠
  • p.Leu89Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu89Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Lys105Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Lys105Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys120Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Lys130Gln Single submitter ⚠
  • p.Lys130Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys138Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Lys138Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Lys138Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2F ⚠
  • p.Lys176Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys259Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys78Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys92Glu Single submitter Inborn genetic diseases ⚠