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
RS2134985434 Health Risk Pathogenic Exostoses, multiple, type 2
RS2134985455 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135014654 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135014852 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135015765 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135020224 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135020617 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135020654 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135020895 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135029005 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135029007 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135127682 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135127698 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135127706 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135128105 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135204843 Health Risk Pathogenic Exostoses, multiple, type 2
RS2135259503 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539514504 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539515955 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539516907 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539521823 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539563039 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539563253 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539563299 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539563311 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539563601 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539577315 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539577681 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539664619 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539664719 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539665065 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539717285 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539783265 Health Risk Pathogenic Exostoses, multiple, type 2
RS2539783884 Health Risk Pathogenic Exostoses, multiple, type 2
RS267606786 Health Risk Pathogenic Exostoses, multiple, type 2
RS558968332 Health Risk Pathogenic Exostoses, multiple, type 2
RS569199683 Health Risk Pathogenic Exostoses, multiple, type 2
RS750542485 Health Risk Pathogenic Exostoses, multiple, type 2
RS753083913 Health Risk Pathogenic Exostoses, multiple, type 2
RS754533434 Health Risk Pathogenic Exostoses, multiple, type 2
RS762073822 Health Risk Pathogenic —
RS763718818 Health Risk Pathogenic Exostoses, multiple, type 2
RS764379119 Health Risk Pathogenic Exostoses, multiple, type 2
RS767802942 Health Risk Pathogenic Exostoses, multiple, type 2
RS774168080 Health Risk Pathogenic Exostoses, multiple, type 2
RS781083252 Health Risk Pathogenic Exostoses, multiple, type 2
RS864309636 Health Risk Pathogenic Exostoses, multiple, type 2
RS864309637 Health Risk Pathogenic Exostoses, multiple, type 2
RS886039358 Health Risk Pathogenic Exostoses, multiple, type 2
RS886039565 Health Risk Pathogenic Exostoses, multiple, type 2
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