| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. | 20848659 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. | 20618354 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. | 19032956 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. | 19394335 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. | 19793053 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. | 18301448 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. | 17949294 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. | 16557584 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. | 12606733 | 2003 |