POMGNT2

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Summary

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

Known Variants393 total

rsidPosition (GRCh37)AllelesClassClinVar
rs785189843:43,121,029C/A—benign
rs755839193:43,121,066G/T—benign
rs1117774933:43,121,179C/T—benign
rs1488901103:43,121,184C/T—likely benign
rs3676213193:43,121,185G/A—uncertain significance
rs11840556543:43,121,195C/A—uncertain significance
rs3713758203:43,121,199C/T—likely benign
rs15754611283:43,121,208A/C—uncertain significance
rs20898285013:43,121,212G/A—uncertain significance
rs25288926673:43,121,219G/A—likely benign
rs7728156573:43,121,227T/C—uncertain significance
rs13169240453:43,121,237T/C—uncertain significance
rs5484712393:43,121,242C/T—uncertain significance
rs1474774913:43,121,243G/A—uncertain significance
rs14772483733:43,121,255G/A—likely benign
rs2020580553:43,121,264T/C—uncertain significance
rs21256992923:43,121,271C/T—likely benign
rs25288929343:43,121,281T/C—uncertain significance
rs20898295093:43,121,294G/C—uncertain significance
rs7539309653:43,121,303G/A—likely benign
rs3769065013:43,121,321C/T—uncertain significance
rs1438321913:43,121,322G/A—likely benign
rs3687872053:43,121,331C/T—likely benign
rs12858559253:43,121,337C/T—likely benign
rs5471253153:43,121,344T/C—uncertain significance
rs9762015153:43,121,352C/T—likely benign
rs7689987823:43,121,354C/T—uncertain significance
rs12071509123:43,121,356T/A—uncertain significance
rs7761463933:43,121,357C/T—uncertain significance
rs7476919213:43,121,369C/A—likely pathogenic
rs20898306923:43,121,371C/T—uncertain significance
rs7729072963:43,121,373C/T—likely benign
rs15536181833:43,121,384A/G—uncertain significance
rs20898310883:43,121,401A/C—uncertain significance
rs1447995743:43,121,410G/C—uncertain significance
rs7506833753:43,121,417T/C—uncertain significance
rs13692568363:43,121,420G/C—uncertain significance
rs7584934133:43,121,422C/T—uncertain significance
rs7804927433:43,121,423G/A—uncertain significance
rs9476160093:43,121,429C/T—uncertain significance
rs7518268473:43,121,430G/A—likely benign
rs7553358883:43,121,435C/T—uncertain significance
rs352079393:43,121,436A/G—likely benign
rs14809955153:43,121,445T/C—likely benign
rs3718897583:43,121,448C/T—likely benign
rs1404002953:43,121,458C/T—uncertain significance
rs7489815003:43,121,459G/A—uncertain significance
rs20898321473:43,121,465C/T—uncertain significance
rs7704399443:43,121,467C/T—uncertain significance
rs1450171903:43,121,469C/T—likely benign
rs25288939903:43,121,473T/G—uncertain significance
rs20898324123:43,121,478T/G—likely benign
rs7719800763:43,121,490G/A—likely benign
rs13539184573:43,121,505C/T—likely benign
rs7756367613:43,121,508C/T—likely benign
rs1470748273:43,121,509C/T—uncertain significance
rs1438926073:43,121,510G/A—uncertain significance
rs20898329263:43,121,515C/T—uncertain significance
rs3697871773:43,121,518G/A—uncertain significance
rs13611624903:43,121,520C/T—likely benign
rs1482923983:43,121,521C/T—uncertain significance
rs1378738043:43,121,522G/A—uncertain significance
rs5548012803:43,121,532C/G—likely benign
rs1509011313:43,121,534C/T—uncertain significance
rs7565562743:43,121,535G/A—likely benign
rs1433941823:43,121,536C/T—conflicting classifications of pathogenicity
rs3761779363:43,121,537G/A—uncertain significance
rs340838893:43,121,539C/T—uncertain significance
rs1471750643:43,121,540G/A—likely benign
rs3754144903:43,121,544G/T—likely benign
rs7469696873:43,121,556G/A—likely benign
rs6040333:43,121,559C/A—likely benign
rs25288944763:43,121,571C/G—uncertain significance
rs7664671913:43,121,574G/T—likely benign
rs7596868263:43,121,575G/C—uncertain significance
rs7678793833:43,121,580C/T—likely benign
rs7566443943:43,121,590C/T—uncertain significance
rs3879072993:43,121,591G/Astop gainedpathogenic
rs7783954773:43,121,595G/A—likely benign
rs21256996993:43,121,598C/T—pathogenic
rs11957553263:43,121,603C/T—uncertain significance
rs3777258793:43,121,604G/A—likely benign
rs20898344153:43,121,608T/G—uncertain significance
rs3714052053:43,121,611C/T—uncertain significance
rs7580773523:43,121,612G/A—uncertain significance
rs1424581153:43,121,620A/G—uncertain significance
rs3739511593:43,121,628T/C—likely benign
rs2014460713:43,121,633C/T—uncertain significance
rs5629880513:43,121,638C/T—uncertain significance
rs12998161263:43,121,639G/A—uncertain significance
rs13380909073:43,121,647A/C—uncertain significance
rs3750625443:43,121,648G/A—likely benign
rs10060948273:43,121,649G/A—likely benign
rs7756679953:43,121,653C/A—uncertain significance
rs7610868343:43,121,654G/A—uncertain significance
rs7646780163:43,121,668C/T—uncertain significance
rs14735583673:43,121,669G/A—uncertain significance
rs20898354163:43,121,675G/T—uncertain significance
rs3738855423:43,121,678G/A—uncertain significance
rs13033702683:43,121,680G/A—uncertain significance

Showing 100 of 393 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.