VPS13B

vacuolar protein sorting 13 homolog B

Summary

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants4,409 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860625338:100,025,575T/A—uncertain significance
rs24880796548:100,025,580G/A—uncertain significance
rs1476723648:100,025,581C/G—uncertain significance
rs5509824758:100,026,015A/G—uncertain significance
rs24880833798:100,026,017A/T—uncertain significance
rs10604997798:100,026,019G/Amissense variantpathogenic
rs11672001598:100,026,021T/A—uncertain significance
rs7520729488:100,026,022G/T—likely benign
rs24880835068:100,026,025G/A—likely benign
rs14904570518:100,026,034A/G—likely benign
rs14131206438:100,026,035A/T—uncertain significance
rs7565568718:100,026,038C/G—uncertain significance
rs24880837128:100,026,047A/T—uncertain significance
rs24880837358:100,026,051G/A—uncertain significance
rs24880837458:100,026,052C/T—likely benign
rs13106769718:100,026,053T/C—uncertain significance
rs2003277568:100,026,072A/G—conflicting classifications of pathogenicity
rs21321254238:100,026,076C/A—uncertain significance
rs18414487918:100,026,079A/G—likely benign
rs5708777618:100,026,085G/C—likely benign
rs18414491508:100,026,089G/A—uncertain significance
rs18414492668:100,026,090A/T—uncertain significance
rs12082060648:100,026,091T/C—likely benign
rs7459801438:100,026,094A/G—conflicting classifications of pathogenicity
rs24880840378:100,026,095C/T—likely pathogenic
rs15879124618:100,026,096A/G—likely pathogenic
rs11907695278:100,026,103A/G—likely benign
rs7718605468:100,026,106A/G—likely benign
rs7754986118:100,026,115A/G—likely benign
rs14281370068:100,026,118C/G—uncertain significance
rs21321255518:100,026,121G/T—likely benign
rs14331102178:100,026,123T/A—uncertain significance
rs21321255888:100,026,128A/T—uncertain significance
rs7684966968:100,026,130C/T—likely benign
rs24880843548:100,026,133G/A—likely benign
rs12170324848:100,026,136C/A—likely benign
rs18414513488:100,026,137G/C—uncertain significance
rs18414514368:100,026,139G/A—likely benign
rs21321256488:100,026,143A/C—uncertain significance
rs7614917208:100,026,149G/A—uncertain significance
rs18414518478:100,026,154G/A—likely benign
rs21321256828:100,026,155C/T—likely benign
rs18414519408:100,026,157G/C—likely benign
rs5335755148:100,026,158G/T—pathogenic
rs21321257048:100,026,161C/T—pathogenic
rs10575170298:100,026,164G/A—pathogenic
rs7725501628:100,026,166A/G—uncertain significance
rs24880847318:100,026,181C/A—likely benign
rs13549783268:100,026,182A/C—likely benign
rs125478498:100,026,275T/C—benign
rs1122865018:100,027,593C/Tupstream gene variant—
rs21322218518:100,050,634A/G—uncertain significance
rs7798422558:100,050,641G/A—likely benign
rs18428365128:100,050,646T/C—likely benign
rs7684067978:100,050,649A/G—likely pathogenic
rs14320792968:100,050,652A/C—uncertain significance
rs21322219248:100,050,653A/G—likely benign
rs7764569718:100,050,657A/T—pathogenic
rs11933691488:100,050,663C/T—uncertain significance
rs12539650708:100,050,664C/T—uncertain significance
rs7479618388:100,050,665A/G—likely benign
rs21322219908:100,050,674T/C—likely benign
rs21322219988:100,050,676T/C—uncertain significance
rs21322220058:100,050,677A/T—uncertain significance
rs24882673138:100,050,681G/T—pathogenic
rs21322220168:100,050,689T/G—uncertain significance
rs24882674038:100,050,695A/G—likely benign
rs21322220308:100,050,696T/C—likely benign
rs3685113118:100,050,706A/G—uncertain significance
rs24882675168:100,050,707T/C—likely benign
rs7729224848:100,050,710A/T—likely benign
rs2015176178:100,050,713A/G—likely benign
rs8860625348:100,050,714T/C—uncertain significance
rs18428385508:100,050,722A/G—likely benign
rs7758592078:100,050,728T/C—likely benign
rs24882677098:100,050,732G/A—uncertain significance
rs9547073718:100,050,735C/A—uncertain significance
rs3725976198:100,050,737A/G—likely benign
rs15879474438:100,050,739T/C—uncertain significance
rs7647180358:100,050,743A/G—likely benign
rs7653141538:100,050,752C/G—uncertain significance
rs18428399078:100,050,753A/G—uncertain significance
rs10485479438:100,050,759A/G—uncertain significance
rs24882680588:100,050,779T/A—likely benign
rs21322222288:100,050,788G/A—likely benign
rs18428408848:100,050,791A/T—likely benign
rs10575168578:100,050,795G/A—pathogenic
rs24882681908:100,050,796T/A—likely pathogenic
rs5710788748:100,050,801A/C—likely benign
rs7548629458:100,050,802A/G—likely benign
rs21322222838:100,050,804T/G—likely benign
rs14232328898:100,050,805A/G—likely benign
rs24882683318:100,050,807T/C—likely benign
rs24882683718:100,050,811C/G—likely benign
rs2004745798:100,050,813A/G—likely benign
rs21322223318:100,050,814A/C—likely benign
rs1907518018:100,051,071C/T—likely benign
rs132758218:100,084,782C/Tregulatory region variant—
rs1878950978:100,101,130C/Gdownstream gene variant—
rs1391882338:100,108,258C/A—likely benign

Showing 100 of 4,409 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.