MUTYH Chromosome 1
MutY DNA glycosylase
Upload your DNA to see your personal genotypes for variants in MUTYH.
What This Gene Does
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
DNA glycosylases
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000132781
Associated Conditions (62)
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Gastric cancer
MUTYH-related disorder
MUTYH-related Breast Cancer
Hereditary cancer
Familial colorectal cancer type X
Pilocytic astrocytoma
Neoplasm of stomach
Pilomatrixoma
Breast carcinoma
Carcinoma of colon
Diffuse midline glioma
H3 K27-altered
Anaplastic/large cell medulloblastoma
Neoplasm
See cases
Thyroid cancer
nonmedullary
1
+42 more conditions
Key Variants
RS1003387951
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1057517460
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Gastric cancer
Health Risk
RS1057520831
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057524506
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, MUTYH-related disorder
Health Risk
RS1060501323
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501325
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501326
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501327
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501328
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501329
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501330
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501338
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
All Variants (862)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1645098684 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1645261795 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1645377813 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS182537898 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS200495564 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial colorectal cancer |
| RS2149103038 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149119265 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149120039 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149128878 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149129901 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149137694 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149138656 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149140738 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149142768 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149143211 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149151527 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149152823 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149160869 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149161607 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2149164388 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149172097 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149175646 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2149175937 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2149176119 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149176927 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523906210 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2523911797 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2523914698 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523921174 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2523954069 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS2523957520 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2523964937 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2523969766 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2523991314 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2523996953 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524008424 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524010030 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524016687 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524023943 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524050386 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524051238 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524072936 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524112772 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524122940 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS2524146899 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524151547 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524157635 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524158214 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS2524181970 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524220280 | Health Risk | Pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |