GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SGCB R91Linsufficiently evaluated pathogenicunknown

(1 web hit)

SGCB R91Pinsufficiently evaluated pathogenicunknown

(1 web hit)

SGCB M100Kinsufficiently evaluated pathogenicunknown

(1 web hit)

SGCB L108Rinsufficiently evaluated pathogenicunknown

(1 web hit)

SGCB S114Finsufficiently evaluated not reviewed, f=0.000unknown

(4 web hits)

SGCB R131Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_H01_200_37
SGCB T151Rinsufficiently evaluated pathogenicrecessive

Limb Girdle Muscular Dystrophy

(5 web hits)

SGCB I166Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
SGCB Y184Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SGCB S302Ginsufficiently evaluated not reviewed, f=0.000unknown
Total results: 10

Gene search

"GENE" or "GENE A123C":

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