GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GNPTAB K4Qinsufficiently evaluated pathogenicunknown

(6 web hits)

GNPTAB R46Qinsufficiently evaluated not reviewed, f=0.007unknown var-GS06994-1100-36-ASM
GNPTAB Q104Xinsufficiently evaluated pathogenicunknown

(11 web hits)

GNPTAB I167Ninsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_G01_200_37
GNPTAB D190Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
GNPTAB I348Linsufficiently evaluated not reviewed, f=0.014unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19238-1100-36-ASM
GNPTAB F374Linsufficiently evaluated pathogenicunknown

(9 web hits)

GNPTAB T382Ainsufficiently evaluated not reviewedunknown
GNPTAB R394Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
GNPTAB D407Ginsufficiently evaluated pathogenicunknown
GNPTAB Y477Dinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_G01_200_37
GNPTAB G480Einsufficiently evaluated noneunknown
GNPTAB G483GGGinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
GNPTAB T644Iinsufficiently evaluated not reviewed, f=0.018unknown hu232307 build 36 substitution variants
GNPTAB T644Minsufficiently evaluated not reviewed, f=0.031unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
GNPTAB G871Sinsufficiently evaluated none, f=0.013unknown var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
GNPTAB W894Xinsufficiently evaluated pathogenicunknown

(11 web hits)

GNPTAB S1058Xinsufficiently evaluated pathogenicunknown

(4 web hits)

GNPTAB T1066Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
GNPTAB R1189Xinsufficiently evaluated pathogenicunknown

(13 web hits)

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Total results: 20

Gene search

"GENE" or "GENE A123C":

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