Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. | 16418736 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. | 27696107 | 2017 |
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T | 0.700 | CausalMutation | CLINVAR | Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. | 18566915 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin. | 21039432 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. | 18409202 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait. | 16525781 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Human MSH6 deficiency is associated with impaired antibody maturation. | 22250089 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. | 21056691 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. | 15483016 | 2004 |