EXT2 Chromosome 11

Exostosin glycosyltransferase 2
207 variants 207 Health Risk

Upload your DNA to see your personal genotypes for variants in EXT2.

What This Gene Does
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Exostosin glycosyltransferase family
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000151348
Associated Conditions (24)
Exostoses
multiple
type 2
EXT2-related disorder
Seizures-scoliosis-macrocephaly syndrome
Colorectal cancer
Thymoma
Melanoma
Malignant tumor of esophagus
Clear cell carcinoma of kidney
Cervical cancer
Uveal melanoma
Nonpapillary renal cell carcinoma
type 1
Inborn genetic diseases
Multiple congenital exostosis
Ovarian cancer
Mesothelioma
Hepatoblastoma
Ovarian serous cystadenocarcinoma
+4 more conditions
Key Variants
RS1038984851
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS111589746
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS1343630556
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS138187791
Conflicting classifications of pathogenicity
Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple
Health Risk
RS138495222
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS138722406
Conflicting classifications of pathogenicity
Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple
Health Risk
RS138943091
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS139525250
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS140075817
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS140561784
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS141035971
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS142565472
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
All Variants (207)
RSID Category Clinical Significance Conditions
RS1350266566 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS1457613214 Health Risk Likely pathogenic Seizures-scoliosis-macrocephaly syndrome, Mesothelioma, Seizures-scoliosis-macrocephaly syndrome
RS1488367942 Health Risk Likely pathogenic EXT2-related disorder, EXT2-related disorder
RS1565196333 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS1565231185 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS1590667793 Health Risk Likely pathogenic Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple
RS1954187933 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1955074882 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS1955965088 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2135015566 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS2135015771 Health Risk Likely pathogenic Seizures-scoliosis-macrocephaly syndrome, Seizures-scoliosis-macrocephaly syndrome
RS2135127852 Health Risk Likely pathogenic Hepatoblastoma, Hepatoblastoma
RS2539514590 Health Risk Likely pathogenic —
RS2539517042 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS2539562654 Health Risk Likely pathogenic EXT2-related disorder, EXT2-related disorder
RS2539733866 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS2539779929 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS2539780098 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS570580540 Health Risk Likely pathogenic Inborn genetic diseases, Exostoses, multiple
RS752132275 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS753973135 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS756921209 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS864309638 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS960497646 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS968941427 Health Risk Likely pathogenic Exostoses, multiple, type 2
RS1057521132 Health Risk Pathogenic Exostoses, multiple, type 2
RS1064793854 Health Risk Pathogenic Exostoses, multiple, type 2
RS1064796192 Health Risk Pathogenic —
RS1085307877 Health Risk Pathogenic —
RS1191238988 Health Risk Pathogenic Exostoses, multiple, type 2
RS121918279 Health Risk Pathogenic Exostoses, multiple, type 2
RS121918280 Health Risk Pathogenic Exostoses, multiple, type 2
RS121918281 Health Risk Pathogenic Exostoses, multiple, type 2
RS1319747883 Health Risk Pathogenic Exostoses, multiple, type 2
RS1369420640 Health Risk Pathogenic Exostoses, multiple, type 2
RS1393024469 Health Risk Pathogenic Exostoses, multiple, type 2
RS1403873034 Health Risk Pathogenic Exostoses, multiple, type 2
RS1406801697 Health Risk Pathogenic Exostoses, multiple, type 2
RS1410604006 Health Risk Pathogenic Exostoses, multiple, type 2
RS1448103584 Health Risk Pathogenic Exostoses, multiple, type 2
RS1450980907 Health Risk Pathogenic Exostoses, multiple, type 2
RS1555002457 Health Risk Pathogenic Exostoses, multiple, type 2
RS1555002460 Health Risk Pathogenic Exostoses, multiple, type 2
RS1555002543 Health Risk Pathogenic Exostoses, multiple, type 2
RS1555005328 Health Risk Pathogenic Exostoses, multiple, type 2
RS1555005398 Health Risk Pathogenic Exostoses, multiple, type 2
RS1555006433 Health Risk Pathogenic Exostoses, multiple, type 2
RS1555012835 Health Risk Pathogenic —
RS1564986609 Health Risk Pathogenic Exostoses, multiple, type 2
RS1565196489 Health Risk Pathogenic Exostoses, multiple, type 2
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