Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
TCC | 0.700 | CausalMutation | CLINVAR | Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. | 27829682 | 2017 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | 25980754 | 2015 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. | 23108399 | 2013 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. | 22744763 | 2012 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? | 19531215 | 2009 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). | 16140997 | 2005 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. | 15188161 | 2004 |
|||
|
TCC | 0.700 | CausalMutation | CLINVAR | Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. | 15366000 | 2004 |