Gene: MSH2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749854
rs63749854
MSH2
T 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs63750232
rs63750232
MSH2
C 0.700 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016
dbSNP: rs63750398
rs63750398
MSH2
A 0.700 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016
dbSNP: rs63750689
rs63750689
MSH2
G 0.700 CausalMutation CLINVAR Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways. 27284491

2016
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016
dbSNP: rs63750934
rs63750934
MSH2
T 0.700 CausalMutation CLINVAR Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. 26659639

2016
dbSNP: rs63751140
rs63751140
MSH2
C 0.700 GeneticVariation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs63751140
rs63751140
MSH2
A 0.700 GeneticVariation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs63751207
rs63751207
MSH2
C 0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs63751444
rs63751444
MSH2
G 0.700 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016
dbSNP: rs63751618
rs63751618
MSH2
A 0.700 CausalMutation CLINVAR Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. 27398995

2016
dbSNP: rs863225397
rs863225397
MSH2
A 0.700 GeneticVariation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs267607924
rs267607924
MSH2
A 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs267607995
rs267607995
MSH2
A 0.700 CausalMutation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088

2015
dbSNP: rs587779067
rs587779067
MSH2
T 0.700 GeneticVariation CLINVAR Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India. 25420488

2015
dbSNP: rs587779139
rs587779139
MSH2
T 0.700 CausalMutation CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257

2015
dbSNP: rs63749848
rs63749848
MSH2
C 0.700 CausalMutation CLINVAR Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419

2015
dbSNP: rs63749849
rs63749849
MSH2
T 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs63750086
rs63750086
MSH2
C 0.700 CausalMutation CLINVAR Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419

2015
dbSNP: rs63750493
rs63750493
MSH2
G 0.700 CausalMutation CLINVAR Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome. 26053027

2015
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 GeneticVariation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015
dbSNP: rs63750843
rs63750843
MSH2
T 0.700 CausalMutation CLINVAR Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal? 26485756

2015
dbSNP: rs63750934
rs63750934
MSH2
T 0.700 CausalMutation CLINVAR Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. 25648859

2015