| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. | 27601186 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. | 24362816 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Familial cancer among consecutive uterine cancer patients in Sweden. | 24851142 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. | 24278394 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. | 20007843 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Some aspects of molecular diagnostics in Lynch syndrome. | 20223024 | 2006 |
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|
G | 0.700 | CausalMutation | CLINVAR | Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | 15713769 | 2005 |
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|
G | 0.700 | CausalMutation | CLINVAR | Extensive molecular screening for hereditary non-polyposis colorectal cancer. | 10732761 | 2000 |
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|
G | 0.700 | CausalMutation | CLINVAR | Missense mutations in hMLH1 associated with colorectal cancer. | 10598809 | 1999 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. | 8521398 | 1995 |