Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.800 | GeneticVariation | CLINVAR | The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. | 28349240 | 2017 |
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A | 0.800 | GeneticVariation | CLINVAR | Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. | 26976419 | 2016 |
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A | 0.800 | GeneticVariation | CLINVAR | Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. | 26511139 | 2015 |
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A | 0.800 | GeneticVariation | CLINVAR | Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. | 25820570 | 2015 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
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A | 0.800 | GeneticVariation | CLINVAR | Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. | 19032956 | 2009 |
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A | 0.800 | GeneticVariation | 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 | 0.800 | GeneticVariation | CLINVAR | Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. | 16134147 | 2005 |