DYNC2H1

dynein cytoplasmic 2 heavy chain 1

Summary

This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

Known Variants3,017 total

rsidPosition (GRCh37)AllelesClassClinVar
rs185800006511:102,980,156T/C—uncertain significance
rs11499391311:102,980,210G/T—likely benign
rs155503465811:102,980,264C/T—likely benign
rs54715926711:102,980,271C/T—uncertain significance
rs78126778411:102,980,304A/G—uncertain significance
rs213466745211:102,980,305T/C—conflicting classifications of pathogenicity
rs147162301211:102,980,312C/T—likely benign
rs249674504811:102,980,318T/C—likely benign
rs1730102811:102,980,324C/T—likely benign
rs11353703511:102,980,330G/T—benign
rs37397700811:102,980,336C/T—conflicting classifications of pathogenicity
rs144588786711:102,980,338T/G—uncertain significance
rs138015811011:102,980,346A/T—uncertain significance
rs122822911411:102,980,348T/C—likely benign
rs77281949211:102,980,354C/A—likely benign
rs76280146511:102,980,357G/T—uncertain significance
rs76618322411:102,980,363C/T—likely benign
rs185801276111:102,980,364T/G—conflicting classifications of pathogenicity
rs75146441311:102,980,367G/C—conflicting classifications of pathogenicity
rs249674555911:102,980,369G/T—likely benign
rs185801347611:102,980,375G/A—uncertain significance
rs37669248511:102,980,407A/G—uncertain significance
rs145238152711:102,980,411T/C—likely benign
rs213466798911:102,980,429C/A—uncertain significance
rs75201687411:102,980,435T/C—likely benign
rs185801704611:102,980,441C/T—likely benign
rs74639047811:102,980,448A/T—uncertain significance
rs37130666811:102,980,453C/T—likely benign
rs159124832211:102,980,466C/A—likely benign
rs76928813211:102,980,475G/C—conflicting classifications of pathogenicity
rs249674655711:102,980,476C/G—uncertain significance
rs159124839111:102,980,486C/G—likely benign
rs142554421211:102,980,495C/G—uncertain significance
rs55533905311:102,980,496A/C—pathogenic
rs89610503011:102,980,498G/T—likely pathogenic
rs249674674611:102,980,499G/A—likely pathogenic
rs77414812011:102,980,503G/A—uncertain significance
rs11271811711:102,980,505T/C—conflicting classifications of pathogenicity
rs54085126211:102,980,510T/A—likely benign
rs76421545411:102,980,512C/T—likely benign
rs102315888711:102,980,514C/T—likely benign
rs75412201911:102,980,517C/T—likely benign
rs1228302211:102,980,594A/Gregulatory region variantbenign
rs251399811:102,983,568G/Cintron variant—
rs475489211:102,983,984A/G—likely benign
rs11329254711:102,984,006G/C—likely benign
rs19289448611:102,984,249A/G—likely benign
rs76553322911:102,984,253T/C—uncertain significance
rs75060434411:102,984,257T/C—likely benign
rs146730995411:102,984,259A/C—likely benign
rs125253972611:102,984,260C/G—uncertain significance
rs97250135111:102,984,261T/C—likely benign
rs78164958511:102,984,281A/C—uncertain significance
rs249676649711:102,984,286A/C—uncertain significance
rs77868827311:102,984,289T/C—likely benign
rs124990121411:102,984,314C/T—pathogenic
rs77538947811:102,984,324T/A—uncertain significance
rs132074644311:102,984,325A/G—likely benign
rs88604755811:102,984,336A/G—uncertain significance
rs76070653411:102,984,339A/G—uncertain significance
rs116608904911:102,984,340T/C—likely benign
rs185822415811:102,984,352C/A—uncertain significance
rs37752935011:102,984,361T/A—conflicting classifications of pathogenicity
rs54917748911:102,984,385T/A—likely benign
rs20048599911:102,984,387G/A—conflicting classifications of pathogenicity
rs75197067711:102,984,394T/G—likely benign
rs75530563011:102,984,397C/G—pathogenic
rs77822208111:102,984,406A/G—likely benign
rs74556986811:102,984,407C/T—uncertain significance
rs57123106511:102,984,412A/G—likely benign
rs74683688411:102,984,413G/A—uncertain significance
rs102024653011:102,984,417T/C—uncertain significance
rs77676579511:102,984,418C/T—likely benign
rs76992114111:102,984,424A/G—likely benign
rs76306623111:102,984,430G/A—likely benign
rs76662965811:102,984,435A/C—uncertain significance
rs249676817511:102,984,444A/C—likely benign
rs20025709711:102,984,446G/A—conflicting classifications of pathogenicity
rs75995284611:102,984,448A/G—likely benign
rs75325625411:102,984,452G/A—likely benign
rs36782643011:102,984,454C/T—likely benign
rs116952605811:102,984,455A/G—likely benign
rs11430565811:102,984,458T/G—likely benign
rs1227013011:102,984,696G/C—benign
rs11406652511:102,984,799C/T—benign
rs74939628911:102,984,818C/T—likely benign
rs249677135511:102,984,821T/C—likely benign
rs249677142011:102,984,827T/C—likely benign
rs129119789811:102,984,830A/G—likely pathogenic
rs136682458011:102,984,837G/A—likely benign
rs156530863711:102,984,840A/G—likely benign
rs249677167411:102,984,849A/G—likely benign
rs75969088711:102,984,856G/C—uncertain significance
rs119257875811:102,984,873T/C—likely benign
rs249677196811:102,984,888A/G—likely benign
rs123373727011:102,984,890A/T—uncertain significance
rs185825440911:102,984,898T/C—likely benign
rs249677211311:102,984,900G/A—likely benign
rs185825506711:102,984,903T/G—likely benign
rs91508426511:102,984,904A/G—uncertain significance

Showing 100 of 3,017 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.