EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

Summary

This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]

Known Variants484 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5435378827:148,504,463T/C—likely benign
rs7796298147:148,504,744G/C—uncertain significance
rs5877836277:148,504,758T/Cmissense variantpathogenic
rs15631815387:148,504,759T/A—pathogenic
rs15848440487:148,504,760T/C—uncertain significance
rs3975155487:148,504,761C/Tmissense variantpathogenic
rs3739750967:148,504,762G/A—likely benign
rs1482283537:148,504,768G/A—likely benign
rs7481024007:148,504,771A/G—likely benign
rs10647952257:148,504,773A/Gmissense variantpathogenic
rs25361973017:148,504,774C/G—uncertain significance
rs15848442757:148,504,777C/A—likely benign
rs18018291577:148,504,780G/A—likely benign
rs11316921847:148,504,781G/T—likely pathogenic
rs21294653477:148,504,782C/T—uncertain significance
rs15544793917:148,504,791G/A—uncertain significance
rs7763126007:148,504,795G/C—pathogenic
rs15848446497:148,504,800T/C—uncertain significance
rs1167682057:148,504,818A/G—benign
rs2003205587:148,504,928A/C—likely benign
rs761532047:148,504,986G/C—likely benign
rs745803257:148,505,042T/C—likely benign
rs8875697:148,505,302C/A——
rs7340047:148,505,460G/Cintron variant—
rs7340057:148,505,864G/C——
rs737453887:148,505,985A/G—benign
rs1502338017:148,506,011A/G—likely benign
rs1388920347:148,506,053C/T—likely benign
rs7409497:148,506,064A/Gintron variantbenign
rs13922503267:148,506,159C/T—uncertain significance
rs25362715117:148,506,162C/T—uncertain significance
rs15544811137:148,506,167A/G—likely pathogenic
rs15848626207:148,506,171A/C—likely pathogenic
rs21294674867:148,506,173A/G—pathogenic
rs7479337887:148,506,185C/T—uncertain significance
rs1411433197:148,506,186G/A—likely benign
rs13752749107:148,506,192C/T—likely benign
rs7775238937:148,506,222C/T—likely benign
rs15848629297:148,506,226T/A—likely pathogenic
rs13356399037:148,506,228A/G—likely benign
rs3697059647:148,506,234G/A—likely benign
rs13958431397:148,506,240C/T—uncertain significance
rs25362757937:148,506,245T/C—uncertain significance
rs10338413007:148,506,252A/G—likely benign
rs18023567527:148,506,253A/G—likely benign
rs25362761187:148,506,255G/A—likely benign
rs18023573937:148,506,257G/A—likely benign
rs7757268267:148,506,262A/G—likely benign
rs1839432377:148,506,293G/A—benign
rs102688797:148,506,363T/G—benign
rs3736609417:148,506,385A/G—likely benign
rs3770869377:148,506,386C/T—likely benign
rs5330490747:148,506,387G/A—likely benign
rs7689044937:148,506,393G/C—likely benign
rs7484030287:148,506,394G/A—likely benign
rs7722631467:148,506,395T/A—likely benign
rs412774347:148,506,396A/Csplice region variantbenign
rs25362864397:148,506,400A/T—uncertain significance
rs25362869597:148,506,407G/A—uncertain significance
rs9219711817:148,506,409A/G—likely benign
rs21294676647:148,506,428G/A—pathogenic
rs1939211477:148,506,432G/Amissense variantpathogenic
rs21294676657:148,506,433A/T—uncertain significance
rs15544814357:148,506,443C/T—conflicting classifications of pathogenicity
rs25362891337:148,506,454A/C—likely benign
rs21294676827:148,506,461C/T—uncertain significance
rs5877836267:148,506,462G/Amissense variantpathogenic
rs13909866577:148,506,463G/A—likely benign
rs18024126847:148,506,464G/T—likely pathogenic
rs10575198337:148,506,467G/Cmissense variant—
rs3975155477:148,506,468C/Tmissense variantnot provided
rs7626815737:148,506,472C/T—likely benign
rs25362902857:148,506,473A/G—uncertain significance
rs13219519947:148,506,477C/G—likely pathogenic
rs7639698527:148,506,487A/C—likely benign
rs25362916777:148,506,492A/G—likely benign
rs18024235627:148,506,501G/A—likely benign
rs7813318357:148,506,502C/G—likely benign
rs1438086087:148,507,298C/T—likely benign
rs781401517:148,507,321T/C—likely benign
rs7770822727:148,507,407C/A—likely benign
rs7691294177:148,507,408C/T—likely benign
rs12428024847:148,507,415T/C—likely benign
rs12893264697:148,507,421A/G—uncertain significance
rs1158421967:148,507,426A/G—likely benign
rs25363340577:148,507,428T/C—uncertain significance
rs25363348367:148,507,439A/C—likely pathogenic
rs8860396017:148,507,447G/Cmissense variantpathogenic
rs21294682337:148,507,448C/T—conflicting classifications of pathogenicity
rs15848750997:148,507,454A/G—likely pathogenic
rs10605034307:148,507,464C/A—likely pathogenic
rs2016168067:148,507,471T/C—likely benign
rs25363376187:148,507,505A/G—uncertain significance
rs5320310137:148,507,522C/G—likely benign
rs13035092977:148,507,524G/A—likely benign
rs1130494827:148,507,903G/Aintron variant—
rs20724087:148,508,197A/C——
rs22702057:148,508,481A/G—benign
rs14683428797:148,508,707A/C—likely benign
rs7604959187:148,508,717C/T—uncertain significance

Showing 100 of 484 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.