Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 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: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661

2016

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 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: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 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: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 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: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. 18515411

2008

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433

2007

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072

2006

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

2004

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733

2003

dbSNP: rs200872702
rs200872702
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 GeneticVariation UNIPROT Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002