GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PYGM R49Xinsufficiently evaluated not reviewedunknown

(56 web hits)

PYGM R50Xpathogenic, f=0.002recessive

Causes Glycogen Storage Disease Type V (McArdle’s disease) in a recessive manner.

(76 web hits)

var-GS19649-1100-36-ASM
PYGM Y75Finsufficiently evaluated not reviewed, f=0.010unknown var-GS21767-1100-36-ASM
PYGM A141Vinsufficiently evaluated not reviewedunknown
PYGM G204Sinsufficiently evaluated pathogenicunknown

(35 web hits)

PYGM T395Minsufficiently evaluated not reviewed, f=0.017unknown var-GS19025-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18508-1100-36-ASM
PYGM L396Pinsufficiently evaluated pathogenicunknown

(35 web hits)

PYGM R414Ginsufficiently evaluated none, f=0.061unknown

(4 web hits)

var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
PYGM LC445PRinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_H01_200_37
PYGM R533Pinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
PYGM E540Xinsufficiently evaluated pathogenicunknown

(7 web hits)

PYGM K542Tinsufficiently evaluated pathogenicunknown

(8 web hits)

PYGM K542Xinsufficiently evaluated not reviewedunknown
PYGM Y573Xinsufficiently evaluated pathogenicunknown

(7 web hits)

PYGM R575Xinsufficiently evaluated pathogenicunknown

(7 web hits)

PYGM K608Kinsufficiently evaluated pathogenicunknown

(8 web hits)

PYGM E654Kinsufficiently evaluated pathogenicunknown

(36 web hits)

PYGM Q665Einsufficiently evaluated pathogenicunknown

(7 web hits)

PYGM A670Vinsufficiently evaluated none, f=0.003unknown
PYGM G685Rinsufficiently evaluated pathogenicunknown

(7 web hits)

PYGM I762Minsufficiently evaluated none, f=0.002unknown

(1 web hit)

PYGM W797Rinsufficiently evaluated pathogenicunknown

(60 web hits)

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Total results: 22

Gene search

"GENE" or "GENE A123C":

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