MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		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: rs34612342
rs34612342
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		C 0.800 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs529008617
rs529008617
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		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: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		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: rs769237459
rs769237459
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 27194394 2016
dbSNP: rs36053993
rs36053993
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs374950566
rs374950566
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs529008617
rs529008617
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs769237459
rs769237459
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419 2016
dbSNP: rs769237459
rs769237459
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs876659676
rs876659676
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		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: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		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: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015