GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PRKAG2 S20Iinsufficiently evaluated not reviewed, f=0.024unknown var-GS19025-1100-36-ASM
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
PRKAG2 A44Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
PRKAG2 G56Sinsufficiently evaluated noneunknown
PRKAG2 G100Sinsufficiently evaluated none, f=0.001unknown

(4 web hits)

var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
var-GS18956-1100-36-ASM
PRKAG2 G101Rinsufficiently evaluated noneunknown
PRKAG2 H142Rinsufficiently evaluated pathogenicunknown

(3 web hits)

PRKAG2 G145Rinsufficiently evaluated noneunknown
PRKAG2 R302Qinsufficiently evaluated pathogenicunknown

(257 web hits)

PRKAG2 T400Ninsufficiently evaluated pathogenicunknown

(29 web hits)

PRKAG2 N488Iinsufficiently evaluated pathogenicunknown

(151 web hits)

PRKAG2 D522Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
PRKAG2 R531Qinsufficiently evaluated pathogenicunknown

(171 web hits)

PRKAG2 R531Ginsufficiently evaluated pathogenicunknown

(74 web hits)

Page: 1 2
Total results: 13

Gene search

"GENE" or "GENE A123C":

Log in