MUTYH Chromosome 1

MutY DNA glycosylase
862 variants 862 Health Risk

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
RS2149090030 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149090096 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149102589 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149103640 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Gastric cancer
RS2149113333 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149114379 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149120668 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149127392 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149127726 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149128829 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149129071 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149135348 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149137273 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149137337 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149143657 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149146140 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149149399 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149151820 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149153407 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149155486 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149158164 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149161840 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149164661 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149165354 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149165704 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149172338 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149172789 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149174007 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149175323 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149175874 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149177611 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149186919 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149248633 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523730908 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523737120 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523741447 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523747340 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523750373 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523904059 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523913093 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2523965164 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2523997432 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524011165 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524015442 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524071268 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524085166 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2524086960 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524158645 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524220978 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524222177 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
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