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
RS1565197245 Health Risk Pathogenic Exostoses, multiple, type 2
RS1565199251 Health Risk Pathogenic Exostoses, multiple, type 2
RS1565205890 Health Risk Pathogenic Exostoses, multiple, type 2
RS1590548183 Health Risk Pathogenic —
RS1590548336 Health Risk Pathogenic Exostoses, multiple, type 2
RS1590570665 Health Risk Pathogenic Exostoses, multiple, type 2
RS1590570953 Health Risk Pathogenic Exostoses, multiple, type 2
RS1590575116 Health Risk Pathogenic Exostoses, multiple, type 2
RS1590618771 Health Risk Pathogenic Exostoses, multiple, type 2
RS1590618958 Health Risk Pathogenic Exostoses, multiple, type 2
RS1590647371 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954079044 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954081053 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954081372 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954082764 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954084273 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954086080 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954088614 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954091762 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954107890 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954108641 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954108778 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954372994 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954373394 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954374127 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954375189 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954378294 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954411419 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954411719 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954412043 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954414269 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954415156 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954415964 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954470017 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954470670 Health Risk Pathogenic Exostoses, multiple, type 2
RS1954471038 Health Risk Pathogenic Exostoses, multiple, type 2
RS1955075568 Health Risk Pathogenic Exostoses, multiple, type 2
RS1955076595 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134965356 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134965481 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134967046 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134967717 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134968489 Health Risk Pathogenic —
RS2134968744 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134971478 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134971524 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134971964 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134984550 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134984829 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134985142 Health Risk Pathogenic Exostoses, multiple, type 2
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