MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Mechanisms of pathogenicity in human MSH2 missense mutants. 18951462 2008
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619 2008
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317 2006
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer. 12537652 2002