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 |
|---|---|---|---|
| RS1374768333 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1376695165 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1380281188 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS138089183 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer |
| RS1384803634 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS138833473 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1394044603 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1399651154 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS140156029 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS140288388 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, MUTYH-related disorder |
| RS140342925 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Neoplasm of stomach |
| RS141432759 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS141679570 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, MUTYH-related disorder |
| RS1428261191 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1430529522 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1432929984 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS143353451 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Gastric cancer |
| RS1434384304 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS143796254 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, MUTYH-related disorder |
| RS1439243449 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS144079536 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS144111588 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Carcinoma of colon |
| RS144616312 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Gastric cancer |
| RS1454804175 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS146044717 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1466705435 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1471949219 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS147480076 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, MUTYH-related disorder |
| RS147487160 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Gastric cancer |
| RS1475081112 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1475410456 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS147718169 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Pilomatrixoma |
| RS1477315899 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS147754007 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Carcinoma of colon |
| RS147923905 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, MUTYH-related disorder |
| RS1484876251 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1488458340 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1489217206 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS149342980 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Pilomatrixoma |
| RS150792276 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Carcinoma of colon |
| RS151196169 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS151316420 | Health Risk | Conflicting classifications of pathogenicity | Carcinoma of colon, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1553122784 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1553122794 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1553122801 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1553122804 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1553122883 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1553122949 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1553123034 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1553123054 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |