Gene: MSH2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968

2013
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 23408351

2013
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455

2015
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 25003300

2014
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 25070057

2014
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197

2015
dbSNP: rs28929484
rs28929484
MSH2
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096

1999
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs587779067
rs587779067
MSH2
G 0.800 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 22167527

2012
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Population-based molecular detection of hereditary nonpolyposis colorectal cancer. 10829038

2000
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs587779067
rs587779067
MSH2
G 0.800 CausalMutation CLINVAR

dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. 15870828

2005
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455

2015
dbSNP: rs587779067
rs587779067
MSH2
G 0.800 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: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 25003300

2014
dbSNP: rs587779067
rs587779067
MSH2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015