Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747993448
rs747993448
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: rs747993448
rs747993448
MUTYH
A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs747993448
rs747993448
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: rs747993448
rs747993448
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: rs747993448
rs747993448
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: rs747993448
rs747993448
MUTYH
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs747993448
rs747993448
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: rs747993448
rs747993448
MUTYH
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 GeneticVariation CLINVAR First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 21195604

2011
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 CausalMutation CLINVAR First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 21195604

2011
dbSNP: rs747993448
rs747993448
MUTYH
A 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: rs747993448
rs747993448
MUTYH
A 0.800 CausalMutation CLINVAR Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 19279422

2009
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 GeneticVariation CLINVAR Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 19279422

2009
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 GeneticVariation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 CausalMutation CLINVAR Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433

2007
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 CausalMutation CLINVAR Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 16890597

2006
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 GeneticVariation CLINVAR Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 16890597

2006
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 GeneticVariation CLINVAR MutYH (MYH) and colorectal cancer. 16042573

2005
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 CausalMutation CLINVAR MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166

2004
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 GeneticVariation CLINVAR MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166

2004