Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619 2008
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096 1999
Colorectal cancer, hereditary nonpolyposis, type 1
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
Colorectal cancer, hereditary nonpolyposis, type 1
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Population-based molecular detection of hereditary nonpolyposis colorectal cancer. 10829038 2000
Colorectal cancer, hereditary nonpolyposis, type 1
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. 15870828 2005
Colorectal cancer, hereditary nonpolyposis, type 1
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
Colorectal cancer, hereditary nonpolyposis, type 1
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. 9419403 1997
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327 1998
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575 2003
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968 2013
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170 2010
Colorectal cancer, hereditary nonpolyposis, type 1
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
Colorectal cancer, hereditary nonpolyposis, type 1
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
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 11598466 2001
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Functional analysis of human MutSalpha and MutSbeta complexes in yeast. 9889267 1999
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836 2000
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. 10573010 2000
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011