CEP83

centrosomal protein 83

Summary

The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]

Known Variants429 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7743101812:94,702,389A/G—likely benign
rs213626533112:94,702,596C/T—uncertain significance
rs75379918112:94,702,597C/T—uncertain significance
rs20114863412:94,702,598G/A—likely benign
rs159305119312:94,702,604T/C—likely benign
rs213626564712:94,702,619T/C—likely benign
rs196937127112:94,702,629T/C—uncertain significance
rs196937242212:94,702,634T/C—likely benign
rs159305139512:94,702,649T/C—likely benign
rs121256508012:94,702,650A/G—uncertain significance
rs77370572112:94,702,652T/A—uncertain significance
rs213626609012:94,702,656T/C—uncertain significance
rs18942043512:94,702,659C/T—likely benign
rs77127306312:94,702,660G/A—uncertain significance
rs155521432312:94,702,664T/C—likely benign
rs144433738812:94,702,667A/G—likely benign
rs36989467612:94,702,668G/C—uncertain significance
rs196938147012:94,702,675C/T—uncertain significance
rs94960411812:94,702,679T/C—likely benign
rs254105317812:94,702,680T/A—uncertain significance
rs254105343112:94,702,705G/C—uncertain significance
rs76626877912:94,702,708G/C—likely benign
rs6192716712:94,702,937A/T—benign
rs7336859512:94,703,410T/G—benign
rs213627543412:94,703,674C/A—likely benign
rs75238166212:94,703,695T/C—uncertain significance
rs254106387112:94,703,707G/A—uncertain significance
rs254106390412:94,703,708G/T—uncertain significance
rs75579035412:94,703,712T/C—likely benign
rs36939327412:94,703,713G/A—uncertain significance
rs254106400712:94,703,715T/A—likely benign
rs75678068212:94,703,722A/C—uncertain significance
rs254106408612:94,703,724G/A—likely benign
rs254106418512:94,703,733C/T—uncertain significance
rs254106431212:94,703,747G/A—pathogenic
rs121795196112:94,703,750A/G—uncertain significance
rs145693414212:94,703,758G/A—uncertain significance
rs74724840912:94,703,765T/C—uncertain significance
rs11287756212:94,703,780G/C—uncertain significance
rs196960248212:94,703,800A/G—uncertain significance
rs19234928212:94,703,806C/T—likely benign
rs120780422412:94,703,807G/A—pathogenic
rs123696736112:94,703,817A/G—likely benign
rs119845901212:94,703,828G/A—pathogenic
rs213627655712:94,703,830A/G—uncertain significance
rs196960699912:94,703,832A/G—likely benign
rs213627664212:94,703,842C/A—uncertain significance
rs75668925512:94,703,871A/G—likely benign
rs142002480612:94,703,872G/T—uncertain significance
rs75091288212:94,703,876C/T—uncertain significance
rs131440980112:94,703,887A/T—likely benign
rs213627707212:94,703,889A/G—likely benign
rs78043158812:94,703,890A/G—likely benign
rs74737987812:94,703,891A/G—likely benign
rs76151195812:94,706,697A/G—likely benign
rs197009465212:94,706,710T/C—likely benign
rs76471897012:94,706,718A/G—likely benign
rs36955900612:94,706,725T/C—likely benign
rs254108786512:94,706,731T/C—likely benign
rs75211406112:94,706,740G/T—likely benign
rs78166577012:94,706,762C/T—uncertain significance
rs254108859912:94,706,772T/A—pathogenic
rs77797875612:94,706,788T/C—likely benign
rs197010724612:94,706,798A/G—likely benign
rs18393756412:94,706,813C/T—likely benign
rs7757937612:94,706,854A/G—likely benign
rs14035333612:94,707,032T/C—likely benign
rs7880925312:94,709,076C/G——
rs14201382712:94,717,195G/Aintron variant—
rs14551026112:94,725,292G/A—likely benign
rs104402300212:94,725,461A/G—likely benign
rs37095537812:94,725,468C/T—likely benign
rs76867525812:94,725,490T/C—uncertain significance
rs18264814112:94,725,498C/T—uncertain significance
rs90685282912:94,725,499G/A—conflicting classifications of pathogenicity
rs74788607212:94,725,503C/A—likely benign
rs76958351112:94,725,522T/C—uncertain significance
rs20023239012:94,725,523T/A—conflicting classifications of pathogenicity
rs37701519612:94,725,528T/A—uncertain significance
rs205923484912:94,725,534T/C—uncertain significance
rs254128596712:94,725,538T/C—uncertain significance
rs138380792512:94,725,545G/A—likely benign
rs18730963712:94,725,549C/T—likely benign
rs37477362012:94,725,550G/A—uncertain significance
rs213648895712:94,725,562T/A—pathogenic
rs76809018212:94,725,566C/T—likely benign
rs159320154312:94,725,579C/A—uncertain significance
rs55295856212:94,725,593C/T—likely benign
rs254128739912:94,725,595C/A—likely pathogenic
rs19959391012:94,725,601A/G—benign
rs139617560512:94,725,608G/A—uncertain significance
rs159320177812:94,725,612G/A—likely benign
rs205923883212:94,725,619G/A—likely benign
rs159320192612:94,725,622T/C—likely benign
rs116141591312:94,727,245G/A—likely benign
rs205932516112:94,727,249A/C—likely benign
rs254131110912:94,727,269T/C—likely benign
rs15041542912:94,727,270A/C—conflicting classifications of pathogenicity
rs133476623412:94,727,271G/A—likely benign
rs37576148912:94,727,275C/T—likely benign

Showing 100 of 429 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.