GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CHEK2 A17Sinsufficiently evaluated pathogenicunknown

(3 web hits)

CHEK2 G30Dinsufficiently evaluated not reviewedunknown
CHEK2 P85Linsufficiently evaluated pathogenic, f=0.002unknown

(44 web hits)

var-GS19701-1100-36-ASM
CHEK2 R145Winsufficiently evaluated pathogenicunknown

(73 web hits)

CHEK2 I157Tinsufficiently evaluated pathogenicunknown

(810 web hits)

CHEK2 R180Cinsufficiently evaluated noneunknown

(9 web hits)

CHEK2 R180Hinsufficiently evaluated pathogenicunknown

(13 web hits)

CHEK2 R181Cinsufficiently evaluated pathogenicunknown

(10 web hits)

CHEK2 R181Hinsufficiently evaluated pathogenicunknown

(11 web hits)

CHEK2 I221Tinsufficiently evaluated not reviewedunknown
CHEK2 R223Cinsufficiently evaluated none, f=0.001unknown var-GS18555-1100-36-ASM
CHEK2 E239Kinsufficiently evaluated pathogenicunknown

(2 web hits)

CHEK2 E239Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CHEK2 I264Tinsufficiently evaluated not reviewedunknown
CHEK2 K344Einsufficiently evaluated noneunknown
CHEK2 R361Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
CHEK2 K373Einsufficiently evaluated noneunknown
CHEK2 K416Einsufficiently evaluated none, f=0.001unknown var-GS20502-1100-36-ASM
CHEK2 I419Sinsufficiently evaluated noneunknown
CHEK2 S428Finsufficiently evaluated pathogenicunknown

(94 web hits)

CHEK2 Y433Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
CHEK2 I448Sinsufficiently evaluated noneunknown
CHEK2 Y488Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CHEK2 I491Sinsufficiently evaluated none, f=0.007unknown var-GS19239-1100-36-ASM
var-GS18517-1100-36-ASM
CHEK2 E493Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CHEK2 R562Ginsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
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Total results: 26

Gene search

"GENE" or "GENE A123C":

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