| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Lynch Syndrome: A Primer for Urologists and Panel Recommendations. | 25711197 | 2015 |
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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 | MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. | 18781619 | 2008 |
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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 | 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 | Population-based molecular detection of hereditary nonpolyposis colorectal cancer. | 10829038 | 2000 |
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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 | 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 | Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. | 23408351 | 2013 |
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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 | Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. | 21120944 | 2011 |