EXT2
exostosin glycosyltransferase 2
Summary
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]
Known Variants660 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10458911 | 11:44,117,102 | T/C | — | benign |
| rs3923808 | 11:44,117,122 | A/G | — | benign |
| rs569630494 | 11:44,117,126 | G/T | — | uncertain significance |
| rs1953882206 | 11:44,117,191 | G/T | — | uncertain significance |
| rs78395259 | 11:44,117,236 | C/G | — | benign |
| rs115238130 | 11:44,117,285 | G/A | — | benign |
| rs12800404 | 11:44,117,372 | C/G | — | benign |
| rs1276665372 | 11:44,117,388 | G/T | — | uncertain significance |
| rs58861092 | 11:44,117,409 | G/T | — | benign |
| rs12365753 | 11:44,117,424 | A/G | — | benign |
| rs12362775 | 11:44,117,444 | G/A | — | benign |
| rs140369819 | 11:44,117,508 | C/T | — | likely benign |
| rs1032612888 | 11:44,117,855 | A/G | — | uncertain significance |
| rs1360645499 | 11:44,117,867 | A/G | — | benign |
| rs112082531 | 11:44,117,876 | A/G | — | likely benign |
| rs11037860 | 11:44,117,898 | T/G | — | benign |
| rs74980806 | 11:44,118,059 | G/A | — | likely benign |
| rs11037864 | 11:44,129,086 | A/T | — | benign |
| rs75844681 | 11:44,129,153 | A/C | — | likely benign |
| rs371744028 | 11:44,129,223 | T/A | — | uncertain significance |
| rs369437823 | 11:44,129,237 | G/T | — | uncertain significance |
| rs201185639 | 11:44,129,270 | C/T | — | likely benign |
| rs774142487 | 11:44,129,271 | G/A | — | likely benign |
| rs527624522 | 11:44,129,273 | C/T | — | conflicting classifications of pathogenicity |
| rs764011677 | 11:44,129,274 | G/A | — | likely benign |
| rs375300731 | 11:44,129,280 | G/A | — | likely benign |
| rs765725291 | 11:44,129,282 | A/G | — | uncertain significance |
| rs2539514128 | 11:44,129,284 | A/G | — | uncertain significance |
| rs4755228 | 11:44,129,290 | C/T | — | uncertain significance |
| rs886048274 | 11:44,129,293 | G/A | — | uncertain significance |
| rs1395383609 | 11:44,129,295 | T/C | — | likely benign |
| rs1389288265 | 11:44,129,299 | G/A | — | uncertain significance |
| rs1240693088 | 11:44,129,312 | G/A | — | uncertain significance |
| rs2539514357 | 11:44,129,318 | A/G | — | uncertain significance |
| rs2134965342 | 11:44,129,323 | A/G | — | uncertain significance |
| rs1954077075 | 11:44,129,327 | A/G | — | uncertain significance |
| rs754533434 | 11:44,129,329 | C/T | — | pathogenic |
| rs369368661 | 11:44,129,330 | G/A | — | uncertain significance |
| rs2134965405 | 11:44,129,331 | A/T | — | likely benign |
| rs1954077511 | 11:44,129,346 | C/T | — | likely benign |
| rs747830835 | 11:44,129,355 | C/T | — | likely benign |
| rs769478020 | 11:44,129,356 | A/G | — | conflicting classifications of pathogenicity |
| rs2539514635 | 11:44,129,360 | T/A | — | uncertain significance |
| rs759332687 | 11:44,129,373 | C/T | — | likely benign |
| rs2134965644 | 11:44,129,379 | C/T | — | likely benign |
| rs4755779 | 11:44,129,386 | A/G | — | likely benign |
| rs1954079238 | 11:44,129,402 | C/T | — | uncertain significance |
| rs1590547374 | 11:44,129,405 | A/T | — | conflicting classifications of pathogenicity |
| rs761949260 | 11:44,129,409 | T/G | — | likely benign |
| rs2539515117 | 11:44,129,410 | A/G | — | uncertain significance |
| rs138982530 | 11:44,129,412 | C/T | — | likely benign |
| rs763384036 | 11:44,129,413 | G/A | — | uncertain significance |
| rs766597724 | 11:44,129,418 | C/G | — | likely benign |
| rs752132275 | 11:44,129,430 | G/A | — | likely pathogenic |
| rs151228794 | 11:44,129,444 | G/T | — | uncertain significance |
| rs745846072 | 11:44,129,452 | C/T | — | uncertain significance |
| rs2134966282 | 11:44,129,454 | T/C | — | likely benign |
| rs775542605 | 11:44,129,460 | G/C | — | conflicting classifications of pathogenicity |
| rs748292026 | 11:44,129,462 | C/T | — | uncertain significance |
| rs201374853 | 11:44,129,463 | G/A | — | benign |
| rs200809171 | 11:44,129,467 | G/A | — | uncertain significance |
| rs763040366 | 11:44,129,472 | G/A | — | likely benign |
| rs766800368 | 11:44,129,473 | C/T | — | likely benign |
| rs774620075 | 11:44,129,481 | C/T | — | likely benign |
| rs759924417 | 11:44,129,482 | G/A | — | uncertain significance |
| rs999897934 | 11:44,129,488 | C/A | — | uncertain significance |
| rs587778299 | 11:44,129,494 | C/G | — | not provided |
| rs1954081996 | 11:44,129,498 | A/G | — | uncertain significance |
| rs755625888 | 11:44,129,500 | C/T | — | uncertain significance |
| rs763536229 | 11:44,129,501 | G/A | — | uncertain significance |
| rs534539796 | 11:44,129,507 | A/C | — | conflicting classifications of pathogenicity |
| rs559280035 | 11:44,129,508 | T/C | — | likely benign |
| rs1463030663 | 11:44,129,514 | T/C | — | likely benign |
| rs140075817 | 11:44,129,522 | T/G | missense variant | pathogenic |
| rs758194845 | 11:44,129,523 | G/A | — | uncertain significance |
| rs35455466 | 11:44,129,526 | C/T | — | benign |
| rs746889702 | 11:44,129,527 | A/G | — | uncertain significance |
| rs143048174 | 11:44,129,528 | C/T | — | uncertain significance |
| rs1386417457 | 11:44,129,529 | G/A | — | likely benign |
| rs1405107639 | 11:44,129,537 | A/G | — | uncertain significance |
| rs773387959 | 11:44,129,540 | T/C | — | uncertain significance |
| rs1954083547 | 11:44,129,543 | A/G | — | uncertain significance |
| rs2134967046 | 11:44,129,544 | T/A | — | pathogenic |
| rs376292686 | 11:44,129,545 | C/T | missense variant | pathogenic |
| rs143703574 | 11:44,129,546 | G/A | — | conflicting classifications of pathogenicity |
| rs2539516241 | 11:44,129,554 | T/C | — | uncertain significance |
| rs147587178 | 11:44,129,558 | A/T | — | uncertain significance |
| rs2134967175 | 11:44,129,568 | C/T | — | likely benign |
| rs907886635 | 11:44,129,569 | A/G | — | uncertain significance |
| rs1321100355 | 11:44,129,570 | A/C | — | uncertain significance |
| rs2539516389 | 11:44,129,577 | G/A | — | likely benign |
| rs2539516445 | 11:44,129,582 | A/G | — | uncertain significance |
| rs767802942 | 11:44,129,583 | T/A | stop gained | pathogenic |
| rs1470293557 | 11:44,129,605 | G/A | — | uncertain significance |
| rs753325648 | 11:44,129,619 | C/T | — | likely benign |
| rs115948531 | 11:44,129,620 | G/A | — | benign |
| rs746977743 | 11:44,129,636 | C/G | — | uncertain significance |
| rs1355378570 | 11:44,129,638 | A/G | — | uncertain significance |
| rs2134967559 | 11:44,129,639 | T/G | — | uncertain significance |
| rs200613371 | 11:44,129,644 | C/T | — | conflicting classifications of pathogenicity |
Showing 100 of 660 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.