B9D2

B9 domain containing 2

Summary

This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]

Known Variants59 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14157834219:41,860,617G/A—likely benign
rs36891526219:41,860,619C/T—uncertain significance
rs14368031719:41,860,620G/A—likely benign
rs77018013819:41,860,624C/T—uncertain significance
rs37131548519:41,860,625G/C—uncertain significance
rs74961110019:41,860,637G/A—uncertain significance
rs54244585219:41,860,638G/A—likely benign
rs76032258319:41,860,649C/A—uncertain significance
rs54829640319:41,860,650G/A—likely benign
rs76278234119:41,860,672C/A—uncertain significance
rs14950021219:41,860,690C/T—uncertain significance
rs77812808519:41,860,701G/A—likely benign
rs74981395619:41,860,705C/G—uncertain significance
rs37276945219:41,860,752G/A—likely benign
rs105479719:41,860,759C/T—uncertain significance
rs37458182719:41,860,774C/T—uncertain significance
rs155575582519:41,860,787G/A—likely benign
rs13907290419:41,860,797C/T—likely benign
rs159990232919:41,860,809C/T—likely benign
rs20173564219:41,860,824C/T—likely benign
rs132088530919:41,860,826G/A—uncertain significance
rs148708210319:41,860,832T/G—pathogenic
rs74880330119:41,860,870C/T—uncertain significance
rs78160826319:41,860,871G/A—uncertain significance
rs76043256019:41,860,895C/T—uncertain significance
rs14808768019:41,860,909C/T—conflicting classifications of pathogenicity
rs76354142619:41,860,911G/A—likely benign
rs308745319:41,860,934G/C—benign
rs7899903019:41,863,701T/C—likely benign
rs1166810919:41,863,777C/A—benign
rs3408863119:41,863,821G/A—likely benign
rs146948307119:41,863,830G/A—likely benign
rs14090177419:41,863,833G/A—likely benign
rs156848457519:41,863,848G/C—likely pathogenic
rs74991535519:41,863,852G/T—uncertain significance
rs75790827019:41,863,853C/T—uncertain significance
rs74692833419:41,863,859C/A—uncertain significance
rs36839389519:41,863,865T/G—likely benign
rs74798874919:41,863,866C/G—uncertain significance
rs77485431019:41,863,884C/T—likely benign
rs15002357919:41,863,885G/A—uncertain significance
rs76115828019:41,863,901C/T—uncertain significance
rs75786367019:41,863,909A/Gmissense variantpathogenic
rs37148368419:41,863,942G/A—likely benign
rs11413315019:41,863,970C/T—benign
rs7393146619:41,863,994A/G—benign
rs198207219:41,864,509T/Aupstream gene variant—
rs7903388219:41,869,235C/T—likely benign
rs11182578419:41,869,311G/A—likely benign
rs37180309419:41,869,320C/G—likely benign
rs11249852919:41,869,331G/A—likely benign
rs224171419:41,869,392T/Cmissense variantbenign
rs36971989019:41,869,393A/G—uncertain significance
rs138876990719:41,869,410G/T—likely pathogenic
rs203844872519:41,869,421C/T—uncertain significance
rs75068348419:41,869,433G/A—uncertain significance
rs224171319:41,869,468C/G—benign
rs224171219:41,869,756C/Tregulatory region variantbenign
rs5582692519:41,871,791C/Tupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.