GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SGCA R77Cinsufficiently evaluated pathogenic, f=0.000recessive

Limb Girdle Muscular Dystrophy

(120 web hits)

var-GS19648-1100-36-ASM
SGCA R98Hinsufficiently evaluated pathogenic, f=0.000unknown

(2 web hits)

SGCA Y134Xinsufficiently evaluated pathogenicunknown
SGCA V175Ainsufficiently evaluated pathogenicunknown
SGCA R284Cinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

SGCA R374Cinsufficiently evaluated not reviewed, f=0.006unknown var-GS19701-1100-36-ASM
Total results: 6

Gene search

"GENE" or "GENE A123C":

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