| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. | 11781295 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. | 9833759 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. | 8797773 | 1996 |
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|
0.800 | GeneticVariation | UNIPROT | American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. | 20065170 | 2010 |
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|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. | 11793442 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. | 8872463 | 1996 |
||||
|
0.800 | GeneticVariation | UNIPROT | Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. | 15365995 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain. | 11748856 | 2001 |
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|
C | 0.800 | CausalMutation | CLINVAR |