GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
MSH2 A54Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
MSH2 N127Sinsufficiently evaluated none, f=0.027unknown

(48 web hits)

var-GS19025-1100-36-ASM (hom)
MSH2 I216Vinsufficiently evaluated not reviewedunknown
MSH2 K228Einsufficiently evaluated not reviewed, f=0.009unknown var-GS19735-1100-36-ASM
MSH2 G322Duncertain benign, f=0.011unknown

Although other variants in this mismatch repair gene are associated with cancer, most publications dismiss this variant as a polymorphism (HapMap allele frequency of 1.6%).

(109 web hits)

CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_B02 from PGP sample 94378523
MSH2 R406Xinsufficiently evaluated pathogenicunknown

(11 web hits)

MSH2 Q419Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
MSH2 R524Pinsufficiently evaluated pathogenicunknown

(29 web hits)

MSH2 L599Vinsufficiently evaluated not reviewedunknown

(3 web hits)

MSH2 Q601Xinsufficiently evaluated pathogenicunknown

(4 web hits)

MSH2 P622Linsufficiently evaluated pathogenicunknown

(27 web hits)

MSH2 Q629Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
MSH2 A636Pinsufficiently evaluated pathogenicunknown

(144 web hits)

MSH2 H639Yinsufficiently evaluated pathogenicunknown

(5 web hits)

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Total results: 14

Gene search

"GENE" or "GENE A123C":

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