EFTUD2

elongation factor Tu GTP binding domain containing 2

Summary

This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Known Variants547 total

rsidPosition (GRCh37)AllelesClassClinVar
rs250871148317:42,928,643C/G—likely pathogenic
rs13920684817:42,928,655T/C—conflicting classifications of pathogenicity
rs20216730517:42,928,699A/G—benign
rs52860718817:42,928,702G/A—likely benign
rs119107620717:42,928,730C/A—uncertain significance
rs146672022817:42,928,749G/C—likely benign
rs14397426417:42,929,043G/A—benign
rs75973514417:42,929,060G/A—likely benign
rs136771606817:42,929,062C/T—likely benign
rs205045360917:42,929,066A/G—likely benign
rs56618819317:42,929,075T/C—uncertain significance
rs250871400417:42,929,088C/T—pathogenic
rs19986835317:42,929,092T/C—uncertain significance
rs76719062617:42,929,096G/C—uncertain significance
rs205045565417:42,929,117G/A—likely benign
rs38790687817:42,929,131G/Astop gainedpathogenic
rs250871435617:42,929,170G/A—uncertain significance
rs103493445117:42,929,193G/C—likely benign
rs15096193517:42,929,419G/A—likely benign
rs5613421517:42,929,659G/C—benign
rs74994696917:42,929,754G/A—benign
rs11734530017:42,929,759C/G—likely benign
rs18679704417:42,929,770T/C—likely benign
rs20113872117:42,929,795A/G—benign
rs74957683217:42,929,819G/C—likely benign
rs250871833417:42,929,842C/T—uncertain significance
rs214543144817:42,929,847C/A—uncertain significance
rs20042222017:42,929,858G/A—likely benign
rs15004354117:42,929,861G/A—benign
rs250871843717:42,929,862G/C—uncertain significance
rs131355986917:42,929,864C/T—likely benign
rs214543151817:42,929,865G/A—conflicting classifications of pathogenicity
rs250871850617:42,929,881T/G—uncertain significance
rs76592490117:42,929,883G/T—uncertain significance
rs14416662117:42,929,885G/A—likely benign
rs250871857517:42,929,898C/T—uncertain significance
rs14677991217:42,929,901G/A—uncertain significance
rs13956449117:42,929,924G/A—likely benign
rs155556400617:42,929,931C/T—pathogenic
rs250871874617:42,929,932T/C—likely pathogenic
rs228967317:42,929,970T/C—benign
rs7398410017:42,929,985T/G—benign
rs7519953917:42,930,246A/C—benign
rs11815094617:42,930,451C/T—benign
rs37227062617:42,930,647C/T—likely benign
rs77929609317:42,930,651T/A—likely benign
rs36780703417:42,930,657C/T—likely benign
rs77616026617:42,930,670C/T—likely benign
rs37219731317:42,930,680C/T—conflicting classifications of pathogenicity
rs76468237217:42,930,681G/A—likely benign
rs75238198317:42,930,699G/A—likely benign
rs87925372717:42,930,729G/Cstop gainedpathogenic
rs87925372617:42,930,732G/Tstop gainedpathogenic
rs214543431917:42,930,748C/T—uncertain significance
rs20162055617:42,930,762C/A—likely benign
rs75434306917:42,930,770C/G—likely benign
rs214543438617:42,930,775A/C—likely benign
rs7862011417:42,930,859G/A—benign
rs74576918417:42,930,870G/A—likely benign
rs37344050017:42,930,872C/T—likely benign
rs136506391117:42,930,876T/C—likely benign
rs142277447917:42,930,877T/C—likely benign
rs250872356317:42,930,883A/G—uncertain significance
rs106479689317:42,930,884C/T—pathogenic
rs76362036817:42,930,905C/T—uncertain significance
rs77367283017:42,930,906G/A—likely benign
rs156772835917:42,930,913C/T—uncertain significance
rs205049372117:42,930,924G/A—likely benign
rs214543488417:42,930,925A/G—uncertain significance
rs250872379417:42,930,929T/C—uncertain significance
rs14428274317:42,930,933G/A—likely benign
rs75548442717:42,930,944G/A—uncertain significance
rs250872409317:42,930,962C/A—likely benign
rs159778854817:42,930,987C/T—likely benign
rs76970997017:42,931,017G/A—likely benign
rs20060173317:42,931,022G/A—likely benign
rs36947688917:42,931,596G/A—likely benign
rs105752458817:42,931,636C/A—pathogenic
rs250872807617:42,931,646A/G—uncertain significance
rs159778918617:42,931,649G/A—likely pathogenic
rs106479638117:42,931,651G/Tmissense variantpathogenic
rs250872813417:42,931,654C/A—pathogenic
rs250872818717:42,931,675A/G—likely pathogenic
rs205050781117:42,931,678C/T—likely pathogenic
rs77589375517:42,931,685C/T—conflicting classifications of pathogenicity
rs55261623517:42,931,686G/A—likely benign
rs136447561717:42,931,721C/T—uncertain significance
rs56127394617:42,931,728T/C—likely benign
rs205050891717:42,931,729A/G—likely benign
rs76209310517:42,931,733A/T—uncertain significance
rs57613860817:42,931,734A/G—likely benign
rs75593082517:42,931,741G/A—likely benign
rs14098760717:42,931,744C/A—benign
rs15015097517:42,931,754G/A—benign
rs806589017:42,931,763G/C—likely benign
rs37166551817:42,931,893C/T—likely benign
rs250872962217:42,931,947C/T—uncertain significance
rs37283802517:42,931,954G/A—likely benign
rs159778952117:42,931,965T/A—benign
rs37161400017:42,931,966C/T—likely benign

Showing 100 of 547 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.