MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908380
rs121908380
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 28533537 2017
dbSNP: rs1553125243
rs1553125243
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 28873162 2017
dbSNP: rs34612342
rs34612342
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
dbSNP: rs34612342
rs34612342
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer. 27631816 2017
dbSNP: rs529008617
rs529008617
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
dbSNP: rs587778536
rs587778536
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs587778541
rs587778541
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs587780082
rs587780082
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs587780751
rs587780751
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs762307622
rs762307622
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. 28127763 2017
dbSNP: rs765123255
rs765123255
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Reduced expression of the DNA glycosylase gene MUTYH is associated with an increased number of somatic mutations via a reduction in the DNA repair capacity in prostate adenocarcinoma. 27253753 2017
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 27194394 2016
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas. 26902849 2016
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. 27870730 2016
dbSNP: rs143353451
rs143353451
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 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
dbSNP: rs529008617
rs529008617
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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
dbSNP: rs730881832
rs730881832
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 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
dbSNP: rs765123255
rs765123255
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR 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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419 2016
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978 2015