Source: UNIPROT ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. | 11598466 | 2001 |
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0.700 | GeneticVariation | UNIPROT | MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. | 18781619 | 2008 |
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0.700 | GeneticVariation | UNIPROT | Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). | 16451135 | 2006 |
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0.700 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. | 15604628 | 2004 |
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0.700 | GeneticVariation | UNIPROT | Population-based molecular detection of hereditary nonpolyposis colorectal cancer. | 10829038 | 2000 |
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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 |
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0.700 | GeneticVariation | UNIPROT | Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. | 23535968 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers. | 9621522 | 1998 |
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0.700 | GeneticVariation | UNIPROT | American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. | 24493721 | 2014 |
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0.700 | GeneticVariation | UNIPROT | ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). | 24310308 | 2014 |
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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 |
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0.700 | GeneticVariation | UNIPROT | Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. | 10375096 | 1999 |
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0.700 | GeneticVariation | UNIPROT | ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. | 25645574 | 2015 |
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0.700 | GeneticVariation | UNIPROT | Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. | 9718327 | 1998 |
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0.700 | GeneticVariation | UNIPROT | Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. | 15870828 | 2005 |
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0.700 | GeneticVariation | UNIPROT | HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. | 12124176 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. | 10573010 | 2000 |
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0.700 | GeneticVariation | UNIPROT | Functional analysis of HNPCC-related missense mutations in MSH2. | 18822302 | 2008 |
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0.700 | 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 |
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0.700 | GeneticVariation | UNIPROT | Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. | 9419403 | 1997 |
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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 |
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0.700 | GeneticVariation | UNIPROT | Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. | 21120944 | 2011 |
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0.700 | GeneticVariation | UNIPROT | Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. | 10612836 | 2000 |
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0.700 | GeneticVariation | UNIPROT | Functional analysis of human MutSalpha and MutSbeta complexes in yeast. | 9889267 | 1999 |