BBS12

Bardet-Biedl syndrome 12

Summary

The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

Known Variants551 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3094184:123,623,441A/T——
rs1826594404:123,632,505T/Aintergenic variant—
rs5475004244:123,639,303A/T——
rs286422324:123,653,847C/T—likely benign
rs8860590554:123,653,893C/T—uncertain significance
rs8860590564:123,653,898C/G—uncertain significance
rs3093584:123,653,926G/A—benign
rs8860590574:123,653,941G/T—uncertain significance
rs15784836944:123,653,948C/T—uncertain significance
rs594408684:123,653,989G/C—likely benign
rs779978914:123,662,840T/A—benign
rs3093684:123,662,997A/T—benign
rs7503663654:123,663,048A/C—uncertain significance
rs15539411504:123,663,049T/C—uncertain significance
rs24850713784:123,663,052T/C—uncertain significance
rs10113575284:123,663,057G/T—uncertain significance
rs15784894014:123,663,059T/C—likely benign
rs24850714064:123,663,063A/C—likely benign
rs3737050664:123,663,065A/G—likely benign
rs14648140594:123,663,066G/A—uncertain significance
rs7547021104:123,663,068C/T—likely benign
rs13511711304:123,663,069G/A—conflicting classifications of pathogenicity
rs18008781534:123,663,076A/G—uncertain significance
rs12922915204:123,663,081A/C—likely benign
rs9645825004:123,663,084C/T—uncertain significance
rs7699944634:123,663,089G/A—uncertain significance
rs170060774:123,663,098A/G—benign
rs24850715324:123,663,101A/G—likely benign
rs21507358134:123,663,104T/G—likely benign
rs7599757184:123,663,107A/G—likely benign
rs7762799534:123,663,110A/T—likely benign
rs5650734454:123,663,112T/C—conflicting classifications of pathogenicity
rs1505463664:123,663,113C/T—likely benign
rs3711532314:123,663,114G/A—uncertain significance
rs2002400344:123,663,115C/T—uncertain significance
rs1385793044:123,663,116G/A—likely benign
rs21507358524:123,663,119A/G—likely benign
rs21507358564:123,663,120A/G—uncertain significance
rs7548114404:123,663,122A/G—likely benign
rs9576530514:123,663,123G/A—uncertain significance
rs7525336814:123,663,126A/G—uncertain significance
rs21507358664:123,663,134C/T—likely benign
rs18008803894:123,663,143A/G—likely benign
rs10116658254:123,663,144C/A—uncertain significance
rs7708752174:123,663,146A/G—likely benign
rs15784895714:123,663,149A/G—likely benign
rs13813685464:123,663,151C/A—pathogenic
rs351593974:123,663,152A/T—benign
rs7463028504:123,663,154C/T—uncertain significance
rs18008808084:123,663,155C/A—likely benign
rs7724316004:123,663,157A/G—uncertain significance
rs1380368234:123,663,163T/C—conflicting classifications of pathogenicity
rs21507359124:123,663,176A/G—likely benign
rs9168633784:123,663,182T/C—likely benign
rs1494734454:123,663,187G/A—uncertain significance
rs24850717714:123,663,188T/C—likely benign
rs18008817054:123,663,190T/C—uncertain significance
rs24850717854:123,663,194A/G—likely benign
rs10470610694:123,663,197C/T—likely benign
rs7625588554:123,663,199G/C—uncertain significance
rs24850718114:123,663,205C/T—uncertain significance
rs7657612924:123,663,210A/C—likely benign
rs11609822114:123,663,212G/C—uncertain significance
rs7515151134:123,663,213C/T—uncertain significance
rs7594553274:123,663,219G/T—pathogenic
rs21507359634:123,663,236C/T—likely benign
rs13610815804:123,663,238G/C—uncertain significance
rs7675460514:123,663,247G/A—uncertain significance
rs10528360094:123,663,248A/T—likely benign
rs7525869134:123,663,249C/T—pathogenic
rs21507359754:123,663,251A/G—likely benign
rs1439603294:123,663,259A/G—conflicting classifications of pathogenicity
rs7787921814:123,663,269T/G—likely benign
rs7459576644:123,663,274C/T—uncertain significance
rs12889024014:123,663,275A/G—likely benign
rs12328887934:123,663,278A/G—likely benign
rs21507360094:123,663,281C/T—likely benign
rs3732734874:123,663,284C/T—likely benign
rs24850720714:123,663,287A/G—likely benign
rs7689730354:123,663,288T/C—uncertain significance
rs7729429874:123,663,290T/C—likely benign
rs21507360234:123,663,296T/C—likely benign
rs15784897604:123,663,297G/A—likely pathogenic
rs15607065274:123,663,306A/G—uncertain significance
rs24850721274:123,663,317T/C—likely benign
rs9738443504:123,663,321G/A—uncertain significance
rs18008848724:123,663,324G/A—uncertain significance
rs21507360484:123,663,338T/C—likely benign
rs18008850514:123,663,341A/G—likely benign
rs14727377704:123,663,357C/T—uncertain significance
rs13645067644:123,663,360C/T—uncertain significance
rs17126864224:123,663,364G/T—uncertain significance
rs15784898324:123,663,365T/C—likely benign
rs1513446304:123,663,370C/Gmissense variantpathogenic
rs7676011664:123,663,383A/G—uncertain significance
rs11800970774:123,663,386A/T—likely benign
rs1441796064:123,663,391T/C—uncertain significance
rs18008872124:123,663,394T/A—uncertain significance
rs18008873234:123,663,398A/G—likely benign
rs777310854:123,663,402G/A—likely benign

Showing 100 of 551 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.