| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. | 26300997 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. | 21598002 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. | 18561205 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mismatch repair gene mutations in Chinese HNPCC patients. | 18931482 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Some aspects of molecular diagnostics in Lynch syndrome. | 20223024 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). | 16451135 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. | 16341550 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. | 16216036 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. | 15849733 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. | 14635101 | 2003 |