CBX2

chromobox 2

Summary

This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]

Known Variants110 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18746040017:77,750,934C/Tregulatory region variant—
rs214581916417:77,752,044C/G—uncertain significance
rs78187686217:77,752,082C/T—likely benign
rs57542878617:77,752,103C/A—likely benign
rs78275834017:77,752,164C/G—likely benign
rs214581946417:77,752,176C/A—likely benign
rs78248166117:77,752,192G/C—uncertain significance
rs37326596017:77,753,147C/T—likely benign
rs190698969817:77,753,158C/T—uncertain significance
rs3512469417:77,753,191C/T—benign
rs78230303417:77,755,520C/T—uncertain significance
rs78235319217:77,755,529G/C—uncertain significance
rs78203887517:77,755,547C/T—uncertain significance
rs132840394717:77,755,579C/T—likely benign
rs37517087217:77,755,583C/T—uncertain significance
rs14945717917:77,755,643C/T—likely benign
rs20116805717:77,755,652G/T—uncertain significance
rs78235569317:77,755,747T/G—likely benign
rs130409764417:77,757,534C/G—uncertain significance
rs12190825517:77,757,535C/Tmissense variantpathogenic
rs190740885417:77,757,568C/A—uncertain significance
rs78228363417:77,757,574C/T—likely benign
rs13904834017:77,757,584G/A—likely benign
rs78226260117:77,757,597T/C—uncertain significance
rs78196153617:77,757,639G/A—uncertain significance
rs78188148217:77,757,646G/A—uncertain significance
rs14251141017:77,757,662C/T—likely benign
rs15094304717:77,757,671G/A—benign
rs78222698017:77,757,717C/T—uncertain significance
rs78237164217:77,757,718C/T—uncertain significance
rs13950993417:77,757,723C/T—uncertain significance
rs78278494817:77,757,756G/C—uncertain significance
rs78264156317:77,757,779C/T—likely benign
rs13805038217:77,757,807G/A—likely benign
rs6173932217:77,757,819C/A—benign
rs14826170017:77,757,823G/A—uncertain significance
rs808097117:77,757,845C/T—benign
rs37435173817:77,757,857C/T—likely benign
rs6173848317:77,757,864G/A—uncertain significance
rs155583105317:77,757,873C/T—likely benign
rs37227600517:77,757,911C/T—likely benign
rs20008801617:77,757,912G/A—conflicting classifications of pathogenicity
rs78243383417:77,757,963A/G—uncertain significance
rs56265405617:77,757,978G/A—likely benign
rs140521339717:77,757,981C/T—uncertain significance
rs78196115617:77,757,982G/A—uncertain significance
rs145882679017:77,757,987G/A—uncertain significance
rs78189906217:77,757,993A/T—uncertain significance
rs14373157217:77,758,011G/A—conflicting classifications of pathogenicity
rs78186971717:77,758,014C/T—uncertain significance
rs78268050817:77,758,020A/G—uncertain significance
rs15084496817:77,758,027G/A—uncertain significance
rs78242718617:77,758,050G/C—uncertain significance
rs14921091917:77,758,091G/T—likely benign
rs78216426317:77,758,123C/T—uncertain significance
rs78269725517:77,758,124G/A—likely benign
rs78192969217:77,758,131G/A—uncertain significance
rs6174500817:77,758,154A/C—benign
rs78258640417:77,758,159G/A—uncertain significance
rs78221573617:77,758,168C/T—uncertain significance
rs14255973517:77,758,182G/A—benign
rs155583120917:77,758,216G/A—uncertain significance
rs20107593917:77,758,234A/G—uncertain significance
rs20004439617:77,758,237G/A—uncertain significance
rs147188562117:77,758,248G/T—uncertain significance
rs78207181117:77,758,263C/G—uncertain significance
rs155583124417:77,758,276C/T—uncertain significance
rs78204727117:77,758,285C/G—uncertain significance
rs78236719817:77,758,289G/C—uncertain significance
rs14697018017:77,758,340C/T—likely benign
rs20190584617:77,758,341G/A—uncertain significance
rs14800469017:77,758,359C/T—uncertain significance
rs14083336317:77,758,360G/A—uncertain significance
rs78248033517:77,758,365G/A—likely benign
rs131674653417:77,758,367C/T—likely benign
rs54409391217:77,758,370C/T—likely benign
rs56259302217:77,758,388G/A—likely benign
rs15012737617:77,758,442C/T—likely benign
rs37106795317:77,758,452A/T—uncertain significance
rs375195617:77,758,484A/G—benign
rs53091030817:77,758,502G/A—likely benign
rs78202343317:77,758,512C/T—uncertain significance
rs251547398017:77,758,530T/G—uncertain significance
rs148065509817:77,758,549C/T—uncertain significance
rs78223377217:77,758,552C/A—uncertain significance
rs53209101417:77,758,556T/C—likely benign
rs20117271017:77,758,569C/T—uncertain significance
rs12190825617:77,758,570G/Cmissense variantpathogenic
rs14194967417:77,758,586A/G—benign
rs78273229617:77,758,590C/T—uncertain significance
rs56879391117:77,758,591G/A—uncertain significance
rs7691588817:77,758,597C/T—benign
rs19956634717:77,758,598G/A—benign
rs141921074317:77,758,602A/C—uncertain significance
rs14852197417:77,758,619C/G—uncertain significance
rs20143964817:77,758,620G/A—uncertain significance
rs19216510517:77,758,634T/C—likely benign
rs91204393917:77,758,643G/A—likely benign
rs78201442817:77,758,649C/T—likely benign
rs36934761717:77,758,650G/A—uncertain significance

Showing 100 of 110 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.