WDR81

WD repeat domain 81

Summary

This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Known Variants381 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20191730917:1,619,920C/T—likely benign
rs1294828317:1,622,850G/A——
rs5891247217:1,626,018A/T——
rs7471094417:1,626,753T/G——
rs87977032417:1,628,270G/C—uncertain significance
rs103726477617:1,628,284G/A—uncertain significance
rs99822865017:1,628,304G/A—likely benign
rs37326477917:1,628,321C/A—uncertain significance
rs141689741017:1,628,331C/G—uncertain significance
rs99053375817:1,628,378C/T—uncertain significance
rs159728458417:1,628,394G/C—likely benign
rs145937592017:1,628,404G/A—uncertain significance
rs105073863717:1,628,459G/T—uncertain significance
rs92291578917:1,628,462G/A—uncertain significance
rs77027763317:1,628,498T/C—uncertain significance
rs7463954817:1,628,523C/T—benign
rs75957650117:1,628,548C/T—uncertain significance
rs159728504117:1,628,581C/T—likely benign
rs254386235617:1,628,585G/C—uncertain significance
rs102327181717:1,628,590C/T—uncertain significance
rs92212587017:1,628,594G/C—uncertain significance
rs98448804117:1,628,635G/C—uncertain significance
rs13891929317:1,628,712T/A—uncertain significance
rs55851218117:1,628,729G/A—uncertain significance
rs37414959617:1,628,735C/T—uncertain significance
rs147862716017:1,628,736G/A—likely benign
rs103346041717:1,628,740A/G—uncertain significance
rs14294170717:1,628,757C/G—likely benign
rs95073790217:1,628,821C/T—likely benign
rs254386424617:1,628,837C/A—uncertain significance
rs55491204517:1,628,863G/A—uncertain significance
rs20034385517:1,628,879C/T—uncertain significance
rs100587898717:1,628,891C/A—uncertain significance
rs54065123017:1,628,909T/A—uncertain significance
rs37727341817:1,628,934G/A—likely benign
rs56054589317:1,628,935C/T—uncertain significance
rs36991209017:1,629,045C/A—likely benign
rs76428294817:1,629,049C/T—uncertain significance
rs20169519617:1,629,070G/A—uncertain significance
rs88654054017:1,629,079C/T—uncertain significance
rs20038166617:1,629,080G/T—uncertain significance
rs56289699117:1,629,092C/T—uncertain significance
rs73088220617:1,629,098G/Amissense variantpathogenic
rs75702815417:1,629,187G/A—uncertain significance
rs77872228517:1,629,203C/A—uncertain significance
rs115997172017:1,629,297C/T—likely benign
rs15079888917:1,629,298G/C—uncertain significance
rs76880000117:1,629,305A/G—uncertain significance
rs78096909717:1,629,325A/G—uncertain significance
rs77376816217:1,629,368G/A—uncertain significance
rs159728659617:1,629,393C/T—likely benign
rs191523268717:1,629,410T/C—uncertain significance
rs91803022417:1,629,425C/T—uncertain significance
rs53840315017:1,629,432T/C—likely benign
rs120045584417:1,629,442C/T—likely pathogenic
rs89912866617:1,629,517C/A—uncertain significance
rs254386823917:1,629,529G/A—uncertain significance
rs94192607617:1,629,538G/T—uncertain significance
rs55487442717:1,629,539C/T—uncertain significance
rs74730390917:1,629,543C/T—likely benign
rs78139781617:1,629,544G/A—uncertain significance
rs140158916117:1,629,560A/C—uncertain significance
rs77036914217:1,629,569A/G—uncertain significance
rs54061312517:1,629,591C/T—likely benign
rs140495705817:1,629,619C/T—uncertain significance
rs77498755517:1,629,623G/A—uncertain significance
rs76511713817:1,629,645C/T—likely benign
rs54593958417:1,629,646G/A—uncertain significance
rs56301715917:1,629,657C/T—likely benign
rs93194316617:1,629,660G/A—likely benign
rs156771887517:1,629,676G/T—likely pathogenic
rs147059694717:1,629,692T/C—uncertain significance
rs99260856417:1,629,727A/C—uncertain significance
rs105752010517:1,629,796C/T—uncertain significance
rs119837934917:1,629,799G/A—uncertain significance
rs105752463817:1,629,817C/Tstop gainedpathogenic
rs77940505017:1,629,838C/T—likely pathogenic
rs56203075717:1,629,856C/T—uncertain significance
rs56373282817:1,629,857G/T—uncertain significance
rs76126101317:1,629,858C/T—likely benign
rs121728812217:1,629,859G/A—uncertain significance
rs254387062017:1,629,919A/T—pathogenic
rs8003527417:1,629,969C/T—benign
rs14946149917:1,629,975C/T—benign
rs159728773617:1,629,981C/T—likely benign
rs11451054117:1,629,987C/G—likely pathogenic
rs117417863217:1,629,988G/A—uncertain significance
rs104194953317:1,630,006G/C—uncertain significance
rs102536933717:1,630,025G/A—uncertain significance
rs77217938817:1,630,053C/T—likely benign
rs103357603617:1,630,054G/A—uncertain significance
rs55483580117:1,630,073A/G—uncertain significance
rs137478935517:1,630,109G/A—likely benign
rs37046883117:1,630,121C/T—likely benign
rs14864498717:1,630,130C/A—uncertain significance
rs2843962517:1,630,131G/A—benign
rs118971067917:1,630,138C/G—uncertain significance
rs75932630817:1,630,156C/T—uncertain significance
rs120312865117:1,630,160C/A—uncertain significance
rs191531528117:1,630,203C/G—uncertain significance

Showing 100 of 381 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.