EXT1

exostosin glycosyltransferase 1

Summary

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]

Known Variants677 total

rsidPosition (GRCh37)AllelesClassClinVar
rs361234998:118,809,612T/C3 prime UTR variant—
rs9493948008:118,811,769T/G—uncertain significance
rs7510637868:118,811,800A/G—uncertain significance
rs8860626348:118,811,805C/G—uncertain significance
rs8860626358:118,811,869G/C—uncertain significance
rs7566915058:118,811,959G/A—uncertain significance
rs18231352038:118,811,966G/T—uncertain significance
rs18231353538:118,811,987A/G—uncertain significance
rs2001060298:118,811,989T/C—uncertain significance
rs2012301408:118,811,993G/A—likely benign
rs11884942898:118,811,997T/C—uncertain significance
rs24880791238:118,811,998G/A—uncertain significance
rs21296795398:118,812,001C/G—uncertain significance
rs1460967248:118,812,013C/T—likely benign
rs5575600398:118,812,014G/A—benign
rs5700851508:118,812,020G/A—likely benign
rs7583476218:118,812,021A/G—uncertain significance
rs24880791658:118,812,022G/A—uncertain significance
rs7643914368:118,812,031G/Astop gaineduncertain significance
rs13733498638:118,812,033G/C—uncertain significance
rs7517878598:118,812,036T/G—uncertain significance
rs7574991578:118,812,044C/T—conflicting classifications of pathogenicity
rs12259158378:118,812,049T/C—uncertain significance
rs5758304288:118,812,058A/G—uncertain significance
rs21296798798:118,812,059C/T—conflicting classifications of pathogenicity
rs7862055938:118,812,060C/Tstop gainedpathogenic
rs9052811478:118,812,067C/A—uncertain significance
rs7461847798:118,812,071C/T—likely benign
rs7567186938:118,812,072G/A—uncertain significance
rs7806408858:118,812,086C/T—likely benign
rs15546562668:118,812,088G/A—pathogenic
rs13638151138:118,812,091G/A—pathogenic
rs7477033048:118,812,092C/T—benign
rs7733205208:118,812,094G/T—uncertain significance
rs24880793668:118,812,113A/G—likely benign
rs7466786828:118,812,120C/T—uncertain significance
rs15869870898:118,812,121G/A—uncertain significance
rs21296803138:118,812,123G/C—uncertain significance
rs13282843238:118,812,125A/C—likely benign
rs13363527398:118,812,127C/T—uncertain significance
rs18231395398:118,812,129C/T—uncertain significance
rs1388551098:118,812,130G/A—conflicting classifications of pathogenicity
rs7592903918:118,812,150G/A—likely benign
rs12955088748:118,816,944G/A—likely benign
rs18232122568:118,816,951C/T—likely benign
rs8898363768:118,816,954T/G—likely benign
rs18232123838:118,816,956C/T—uncertain significance
rs21296932798:118,816,960C/G—likely pathogenic
rs18232124148:118,816,963G/A—pathogenic
rs7464814048:118,816,973T/A—likely benign
rs15546572138:118,816,982A/C—pathogenic
rs18232127748:118,816,987G/A—pathogenic
rs18232128098:118,816,990T/A—pathogenic
rs24880852948:118,817,000C/T—likely benign
rs7456771008:118,817,006G/A—likely benign
rs11316920208:118,817,016A/T—pathogenic
rs24880854378:118,817,018T/C—likely benign
rs21296936538:118,817,029C/G—uncertain significance
rs9625262708:118,817,033C/T—likely benign
rs13903907148:118,817,045C/G—uncertain significance
rs1427100598:118,817,057C/T—likely benign
rs21296938558:118,817,068C/T—uncertain significance
rs11584393638:118,817,071A/G—likely benign
rs7619143428:118,817,072T/C—likely benign
rs18232146068:118,817,080C/A—uncertain significance
rs14800723548:118,817,096G/A—likely benign
rs15869892208:118,817,105G/T—pathogenic
rs24880856608:118,817,106T/C—uncertain significance
rs21296941498:118,817,114G/C—pathogenic
rs3681912868:118,817,117T/C—likely benign
rs18232152158:118,817,129A/G—likely benign
rs24880857358:118,817,131A/G—uncertain significance
rs11316916238:118,817,133C/G—pathogenic
rs24880857558:118,817,134T/C—pathogenic
rs21296942658:118,817,135G/C—likely pathogenic
rs3686422008:118,819,442T/A—likely benign
rs21297008728:118,819,451C/T—uncertain significance
rs18232512248:118,819,454A/G—pathogenic
rs18232512658:118,819,455C/T—pathogenic
rs12510591838:118,819,456T/C—uncertain significance
rs21297008948:118,819,457T/A—pathogenic
rs24880890548:118,819,459T/C—likely pathogenic
rs8860393578:118,819,461G/Cstop gainedpathogenic
rs7733939538:118,819,466T/C—uncertain significance
rs18232516338:118,819,467A/G—likely benign
rs18232516988:118,819,472C/T—uncertain significance
rs24880891168:118,819,487T/C—uncertain significance
rs15638735808:118,819,491G/C—pathogenic
rs21297011168:118,819,494G/A—likely benign
rs12525798998:118,819,496C/T—uncertain significance
rs5705989348:118,819,497G/A—likely benign
rs24880891628:118,819,498T/C—uncertain significance
rs7656771758:118,819,500C/T—likely benign
rs21297012398:118,819,503C/T—pathogenic
rs24880891878:118,819,504C/T—pathogenic
rs21297012518:118,819,510G/T—pathogenic
rs18232530138:118,819,520C/A—pathogenic
rs18232530808:118,819,521C/T—pathogenic
rs15869903178:118,819,522C/T—pathogenic
rs7557474798:118,819,525C/T—uncertain significance

Showing 100 of 677 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.