EGR2

early growth response 2

Summary

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Known Variants350 total

rsidPosition (GRCh37)AllelesClassClinVar
rs229581410:64,571,276G/Aregulatory region variant—
rs88604708510:64,571,887C/T—likely benign
rs88604708610:64,571,939T/C—uncertain significance
rs88604708710:64,572,048C/G—uncertain significance
rs6186588210:64,572,093T/Cdownstream gene variantbenign
rs88604708910:64,572,312C/T—uncertain significance
rs55502499710:64,572,321G/A—uncertain significance
rs74848621910:64,572,349A/G—uncertain significance
rs88604709010:64,572,511C/T—uncertain significance
rs11423783310:64,572,538C/T—benign
rs11739592810:64,572,679T/C—likely benign
rs6186588310:64,572,680A/T—benign
rs184214797710:64,572,737C/A—uncertain significance
rs105579474610:64,572,817T/C—uncertain significance
rs88604709110:64,572,822A/T—uncertain significance
rs131029934110:64,572,888G/T—uncertain significance
rs121974722610:64,572,968C/G—uncertain significance
rs37751848910:64,572,970A/T—likely benign
rs76396270610:64,572,973T/G—likely benign
rs37011104510:64,572,977C/T—uncertain significance
rs75700762610:64,572,978G/A—uncertain significance
rs249229149810:64,572,980G/A—uncertain significance
rs135382484710:64,572,984G/C—uncertain significance
rs249229158910:64,572,990A/C—uncertain significance
rs37483346310:64,572,996G/A—uncertain significance
rs14611622910:64,572,999C/T—uncertain significance
rs148361242910:64,573,000G/A—likely benign
rs77981107310:64,573,003C/T—conflicting classifications of pathogenicity
rs87885532410:64,573,007C/A—uncertain significance
rs76828427310:64,573,012G/A—likely benign
rs158908018010:64,573,019C/T—uncertain significance
rs249229214410:64,573,032T/A—uncertain significance
rs88604709210:64,573,038A/C—uncertain significance
rs77341717510:64,573,041G/A—likely benign
rs249229232310:64,573,045A/C—likely benign
rs13896727210:64,573,046C/T—conflicting classifications of pathogenicity
rs75954785610:64,573,059C/A—uncertain significance
rs249229259810:64,573,070C/T—uncertain significance
rs124991998810:64,573,072G/A—likely benign
rs120148876610:64,573,075G/A—likely benign
rs184215954610:64,573,078T/A—likely benign
rs213270181610:64,573,079G/A—uncertain significance
rs184216000810:64,573,082G/A—uncertain significance
rs155485300010:64,573,089C/T—uncertain significance
rs75018388710:64,573,095C/G—uncertain significance
rs57044811210:64,573,096C/A—likely benign
rs249229296310:64,573,104A/T—uncertain significance
rs249229301510:64,573,108G/A—likely benign
rs184216178710:64,573,112C/T—uncertain significance
rs75448585010:64,573,114G/T—uncertain significance
rs78082503510:64,573,121C/T—uncertain significance
rs184216276210:64,573,130T/C—uncertain significance
rs184216293510:64,573,138G/C—uncertain significance
rs158908034410:64,573,150G/A—likely benign
rs142231498810:64,573,154C/T—uncertain significance
rs184216342910:64,573,155G/A—uncertain significance
rs55445642210:64,573,156C/T—likely benign
rs249229335510:64,573,158T/C—uncertain significance
rs74955802610:64,573,163T/C—pathogenic
rs12143456310:64,573,164C/Tmissense variantpathogenic
rs213270218210:64,573,166T/C—pathogenic
rs184216382110:64,573,167C/A—likely pathogenic
rs86462227310:64,573,172C/Tmissense variantpathogenic
rs10489415910:64,573,173G/Amissense variantpathogenic
rs184216436810:64,573,176C/A—uncertain significance
rs184216454010:64,573,184C/A—uncertain significance
rs213270228610:64,573,190C/T—uncertain significance
rs155485301610:64,573,191A/C—uncertain significance
rs155485301710:64,573,192G/A—likely benign
rs120562134010:64,573,193T/C—uncertain significance
rs146463742510:64,573,195G/C—uncertain significance
rs156470597210:64,573,199C/G—uncertain significance
rs184216540910:64,573,200A/T—uncertain significance
rs77133158710:64,573,203C/A—uncertain significance
rs249229365210:64,573,206A/G—uncertain significance
rs213270238610:64,573,207G/A—likely benign
rs249229369910:64,573,208G/T—conflicting classifications of pathogenicity
rs184216568110:64,573,215C/G—uncertain significance
rs96514858710:64,573,219G/A—likely benign
rs249229380010:64,573,220G/C—uncertain significance
rs156470603610:64,573,226G/T—uncertain significance
rs184216671710:64,573,228G/A—likely benign
rs28186513910:64,573,238G/Tmissense variantuncertain significance
rs249229396010:64,573,244A/T—likely pathogenic
rs213270251910:64,573,246G/T—pathogenic
rs87925427810:64,573,247T/Cmissense variantpathogenic
rs76238709210:64,573,249G/A—likely benign
rs10489416010:64,573,251C/Gmissense variantuncertain significance
rs28186513810:64,573,252A/Cmissense variantpathogenic
rs28186513710:64,573,256C/Tmissense variantpathogenic
rs158908052410:64,573,257G/A—pathogenic
rs213270264210:64,573,271A/C—uncertain significance
rs156470612810:64,573,280C/T—uncertain significance
rs184217014810:64,573,281G/C—uncertain significance
rs249229433910:64,573,292G/C—uncertain significance
rs184217088010:64,573,308G/A—uncertain significance
rs213270276810:64,573,310A/T—uncertain significance
rs4560213310:64,573,312T/G—benign
rs155485302810:64,573,314G/A—uncertain significance
rs14741782710:64,573,317T/C—uncertain significance

Showing 100 of 350 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.