GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PHKB A117Pinsufficiently evaluated pathogenicunknown

(1 web hit)

PHKB D134Ninsufficiently evaluated not reviewed, f=0.001unknown var-GS06994-1100-36-ASM
PHKB M178Iinsufficiently evaluated not reviewedunknown
PHKB M185Ilikely pathogenic, f=0.011recessive

Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_D01_200_37
PHKB I192Vinsufficiently evaluated not reviewedunknown
PHKB I367Tinsufficiently evaluated noneunknown
PHKB I374Tinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18555-1100-36-ASM
PHKB Y418Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PHKB Q497Rinsufficiently evaluated not reviewedunknown
PHKB Q504Rinsufficiently evaluated not reviewedunknown
PHKB P518Hinsufficiently evaluated noneunknown
PHKB P525Hinsufficiently evaluated none, f=0.002unknown var-GS19129-1100-36-ASM
PHKB Q656Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PHKB N732Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19700-1100-36-ASM
PHKB Y763Cinsufficiently evaluated noneunknown

(1 web hit)

PHKB Y770Cinsufficiently evaluated none, f=0.082unknown

(18 web hits)

var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
PHKB Y968Hinsufficiently evaluated not reviewedunknown
PHKB Y975Hinsufficiently evaluated not reviewedunknown
PHKB R1034Winsufficiently evaluated noneunknown
PHKB R1041Winsufficiently evaluated none, f=0.010unknown
Page: 1 2
Total results: 20

Gene search

"GENE" or "GENE A123C":

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