EXT1 Chromosome 8
Exostosin glycosyltransferase 1
Upload your DNA to see your personal genotypes for variants in EXT1.
What This Gene Does
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Exostosin glycosyltransferase family
Locus Type
gene with protein product
Location
8q24.11
Ensembl
ENSG00000182197
Associated Conditions (14)
Multiple congenital exostosis
Ovarian cancer
Chondrosarcoma
Exostoses
multiple
type 1
EXT1-related disorder
Inborn genetic diseases
Malignant tumor of esophagus
Childhood neoplasm
Hereditary cancer
Abnormality of the skeletal system
Nonpapillary renal cell carcinoma
Colon adenocarcinoma
Key Variants
RS1064793786
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Multiple congenital exostosis
Health Risk
RS1131691337
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Multiple congenital exostosis
Health Risk
RS1275929525
Conflicting classifications of pathogenicity
Ovarian cancer, Chondrosarcoma, Multiple congenital exostosis
Health Risk
RS1302336455
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Ovarian cancer, Exostoses
Health Risk
RS1368926188
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Ovarian cancer, Multiple congenital exostosis
Health Risk
RS1385688129
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Multiple congenital exostosis
Health Risk
RS138855109
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Ovarian cancer, EXT1-related disorder
Health Risk
RS139784916
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Chondrosarcoma, Multiple congenital exostosis
Health Risk
RS144397063
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Exostoses, multiple
Health Risk
RS145720047
Conflicting classifications of pathogenicity
Multiple congenital exostosis, EXT1-related disorder, Exostoses
Health Risk
RS146407656
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Chondrosarcoma, Multiple congenital exostosis
Health Risk
RS150109153
Conflicting classifications of pathogenicity
Multiple congenital exostosis, Inborn genetic diseases, Multiple congenital exostosis
Health Risk
All Variants (401)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2130043564 | Health Risk | Pathogenic | Exostoses, multiple, type 1 |
| RS2130043699 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis, Multiple congenital exostosis |
| RS2130043834 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis, Multiple congenital exostosis |
| RS2130043872 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2130043930 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2130044416 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2130044431 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2130044984 | Health Risk | Pathogenic | Multiple congenital exostosis, Inborn genetic diseases, Multiple congenital exostosis |
| RS2130045851 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2130045941 | Health Risk | Pathogenic | — |
| RS2488050343 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488050898 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488050909 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488050966 | Health Risk | Pathogenic | — |
| RS2488050974 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488051212 | Health Risk | Pathogenic | Exostoses, multiple, type 1 |
| RS2488051618 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488051693 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488051750 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488051887 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488052028 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488052228 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488052516 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488052574 | Health Risk | Pathogenic | EXT1-related disorder, EXT1-related disorder |
| RS2488052589 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488052905 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488053110 | Health Risk | Pathogenic | EXT1-related disorder, EXT1-related disorder |
| RS2488053146 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488053858 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488053868 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488053876 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488054045 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488085568 | Health Risk | Pathogenic | EXT1-related disorder, EXT1-related disorder |
| RS2488085666 | Health Risk | Pathogenic | — |
| RS2488085680 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488085721 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488085755 | Health Risk | Pathogenic | EXT1-related disorder, EXT1-related disorder |
| RS2488089155 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488089187 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488089211 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488089247 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488089253 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488089308 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488089392 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488096467 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488096579 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488096615 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488096689 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488096787 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |
| RS2488106446 | Health Risk | Pathogenic | Multiple congenital exostosis, Multiple congenital exostosis |