Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Population-based molecular detection of hereditary nonpolyposis colorectal cancer. 10829038

2000

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Functional analysis of human MutSalpha and MutSbeta complexes in yeast. 9889267

1999

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 11598466

2001

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer. 15046096

2004

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. 9419403

1997

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 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: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 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: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 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: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Functional analysis of HNPCC-related missense mutations in MSH2. 18822302

2008

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968

2013

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463

2005

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. 7874129

1994

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197

2015

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006

dbSNP: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 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: rs63750571
rs63750571
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation UNIPROT Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327

1998