IGHMBP2

immunoglobulin mu DNA binding protein 2

Summary

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

Known Variants1,166 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11567482111:68,671,101A/G—likely benign
rs62942611:68,671,104A/G—benign
rs13882474911:68,671,205G/A—likely benign
rs18697104411:68,671,277A/G—benign
rs5725856611:68,671,353T/C—benign
rs77152634711:68,671,372G/C—likely benign
rs19980626311:68,671,387C/G—likely benign
rs36945936911:68,671,391G/C—likely benign
rs11736893811:68,671,393C/A—benign
rs78027317211:68,671,396C/T—likely benign
rs155524181011:68,671,407G/C—likely benign
rs76523797811:68,671,416C/T—uncertain significance
rs75298039211:68,671,417G/A—uncertain significance
rs493062411:68,671,419C/T—benign
rs88603775911:68,671,422T/Cmissense variantpathogenic
rs77823278511:68,671,424G/T—uncertain significance
rs116804223911:68,671,426C/T—likely benign
rs75191079711:68,671,427T/G—uncertain significance
rs133326291511:68,671,430G/A—uncertain significance
rs185806464111:68,671,432A/G—likely benign
rs131864002411:68,671,435T/A—likely benign
rs185806715511:68,671,456G/A—likely benign
rs249592948611:68,671,459A/G—likely benign
rs133444751511:68,671,466C/G—uncertain significance
rs159441212011:68,671,470T/C—uncertain significance
rs124946311:68,671,477T/C—benign
rs77401956711:68,671,478G/A—uncertain significance
rs77185380611:68,671,484G/T—uncertain significance
rs77314332611:68,671,486C/G—uncertain significance
rs249592987311:68,671,490G/A—uncertain significance
rs98569476811:68,671,492G/A—likely benign
rs139325530511:68,671,501G/A—likely benign
rs89288563011:68,671,503G/A—uncertain significance
rs101270210911:68,671,507G/T—likely pathogenic
rs249593004911:68,671,508T/C—likely pathogenic
rs52794800411:68,671,513G/C—likely benign
rs249593012511:68,671,515G/A—likely benign
rs124572171611:68,671,525G/T—likely benign
rs7352295311:68,671,746C/T—benign
rs14292134511:68,671,788A/G—likely benign
rs6188714911:68,673,269A/T—benign
rs65350211:68,673,377G/A—likely benign
rs130971273011:68,673,517C/A—likely benign
rs18365059011:68,673,518A/G—likely benign
rs37564630611:68,673,523C/G—likely benign
rs77964384111:68,673,524G/C—likely benign
rs249594121011:68,673,525G/A—likely benign
rs37115890011:68,673,526G/A—likely benign
rs56244618711:68,673,528G/A—likely benign
rs77294517911:68,673,539C/T—uncertain significance
rs86322488011:68,673,542G/Astop gainedpathogenic
rs156642314011:68,673,544C/T—uncertain significance
rs19958623111:68,673,553A/G—conflicting classifications of pathogenicity
rs215400653011:68,673,558T/G—likely benign
rs249594143811:68,673,567G/A—likely benign
rs13785266811:68,673,571C/Tstop gainedpathogenic
rs20008971411:68,673,577C/Tstop gainedpathogenic
rs102139963011:68,673,578G/A—uncertain significance
rs36870691111:68,673,579A/G—likely benign
rs7880799211:68,673,582C/T—likely benign
rs98264662311:68,673,586T/G—uncertain significance
rs37200071411:68,673,588T/Astop gainedpathogenic
rs75651398011:68,673,600G/T—likely benign
rs11706143011:68,673,601C/G—likely benign
rs92671855711:68,673,604G/C—uncertain significance
rs117887824811:68,673,608C/T—uncertain significance
rs74782266611:68,673,612C/T—likely benign
rs147949369011:68,673,613C/T—pathogenic
rs20169215111:68,673,615G/C—conflicting classifications of pathogenicity
rs20164983911:68,673,616C/T—uncertain significance
rs57188768011:68,673,617G/A—uncertain significance
rs215400653711:68,673,618C/T—likely benign
rs249594204511:68,673,621T/C—likely benign
rs215400653911:68,673,623G/C—uncertain significance
rs138838490611:68,673,625C/T—likely benign
rs77649952711:68,673,627G/A—likely benign
rs3461776211:68,673,630C/T—likely benign
rs105751894311:68,673,631G/Cmissense variantpathogenic
rs185818507611:68,673,632G/A—likely pathogenic
rs76863108711:68,673,634C/G—uncertain significance
rs77452217611:68,673,635G/A—uncertain significance
rs134338820211:68,673,639G/C—likely benign
rs249594221511:68,673,640C/G—uncertain significance
rs185818570411:68,673,641T/C—uncertain significance
rs92086449311:68,673,643G/T—uncertain significance
rs185818595611:68,673,645C/T—likely benign
rs155524224711:68,673,650T/C—uncertain significance
rs147067253211:68,673,654G/T—uncertain significance
rs18871945011:68,673,657C/T—likely benign
rs56392204911:68,673,658A/G—uncertain significance
rs77354325711:68,673,661C/T—pathogenic
rs76675777011:68,673,662G/T—uncertain significance
rs75546854711:68,673,666C/G—pathogenic
rs37664474911:68,673,667G/A—uncertain significance
rs13923734011:68,673,672C/A—conflicting classifications of pathogenicity
rs222820611:68,673,673G/A—likely benign
rs144426740911:68,673,674C/T—uncertain significance
rs76229103611:68,673,675G/A—likely benign
rs77877495411:68,673,679G/C—uncertain significance
rs74666019311:68,673,684T/C—likely benign

Showing 100 of 1,166 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.