Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143353451
rs143353451
MUTYH
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs143353451
rs143353451
MUTYH
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs143353451
rs143353451
MUTYH
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs143353451
rs143353451
MUTYH
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs143353451
rs143353451
MUTYH
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455

2015
dbSNP: rs143353451
rs143353451
MUTYH
0.800 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308

2014
dbSNP: rs143353451
rs143353451
MUTYH
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs143353451
rs143353451
MUTYH
T 0.800 CausalMutation CLINVAR Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis. 23322991

2012
dbSNP: rs143353451
rs143353451
MUTYH
T 0.800 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010
dbSNP: rs143353451
rs143353451
MUTYH
T 0.800 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
dbSNP: rs143353451
rs143353451
MUTYH
T 0.800 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009
dbSNP: rs143353451
rs143353451
MUTYH
T 0.800 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009
dbSNP: rs143353451
rs143353451
MUTYH
T 0.800 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006
dbSNP: rs143353451
rs143353451
MUTYH
T 0.800 CausalMutation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

2004