UNC13D

unc-13 homolog D

Summary

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]

Known Variants1,270 total

rsidPosition (GRCh37)AllelesClassClinVar
rs90770022817:73,823,354G/C—uncertain significance
rs56288411117:73,823,383G/T—uncertain significance
rs11570915217:73,823,388C/T—benign
rs18146786917:73,823,425G/A—uncertain significance
rs206213113417:73,823,511T/C—uncertain significance
rs98716440417:73,823,544G/T—uncertain significance
rs991668517:73,823,720G/A—benign
rs76745969217:73,823,729G/A—uncertain significance
rs11390435017:73,823,982G/A—likely benign
rs88605342117:73,824,028C/T—uncertain significance
rs53172986817:73,824,043C/T—uncertain significance
rs54543064517:73,824,049C/T—likely benign
rs75164944117:73,824,050G/A—uncertain significance
rs133276868517:73,824,051G/A—uncertain significance
rs75512681717:73,824,055C/T—likely benign
rs56432934817:73,824,056G/A—uncertain significance
rs76076692717:73,824,059C/T—uncertain significance
rs53328167217:73,824,060G/A—uncertain significance
rs77806028417:73,824,065G/A—uncertain significance
rs6175392217:73,824,067A/G—likely benign
rs77162082017:73,824,070C/T—likely benign
rs76663293117:73,824,071T/G—uncertain significance
rs76058563017:73,824,072G/C—uncertain significance
rs54529360117:73,824,081G/A—uncertain significance
rs56027970717:73,824,089C/T—uncertain significance
rs37759475517:73,824,095C/T—uncertain significance
rs37071034417:73,824,096G/A—uncertain significance
rs74958025617:73,824,099G/A—uncertain significance
rs118942498217:73,824,104C/G—uncertain significance
rs125763482617:73,824,109A/G—likely benign
rs76922188717:73,824,111A/G—uncertain significance
rs134208640117:73,824,115C/G—uncertain significance
rs77851576917:73,824,118G/C—likely benign
rs721057417:73,824,121T/C—benign
rs254597434317:73,824,124T/C—likely benign
rs37370137117:73,824,125C/T—uncertain significance
rs77492137317:73,824,126G/A—pathogenic
rs254597434817:73,824,127G/T—uncertain significance
rs214385884117:73,824,136C/G—likely benign
rs7989155217:73,824,137C/T—uncertain significance
rs138095828017:73,824,138G/A—uncertain significance
rs127870104317:73,824,146A/G—likely pathogenic
rs97951818017:73,824,149A/G—uncertain significance
rs15095234817:73,824,159T/C—uncertain significance
rs206213641417:73,824,160T/C—likely benign
rs206213643517:73,824,161G/A—uncertain significance
rs254597439117:73,824,166C/A—likely benign
rs36757183517:73,824,171C/T—likely benign
rs56419887917:73,824,172G/A—likely benign
rs119274688117:73,824,175G/A—likely benign
rs254597440117:73,824,177G/C—likely benign
rs254597440317:73,824,179G/A—likely benign
rs117449897317:73,824,181G/A—likely benign
rs254597440917:73,824,182G/A—likely benign
rs75624908517:73,824,184T/C—likely benign
rs254597496417:73,824,850C/T—likely benign
rs254597496517:73,824,851C/A—likely benign
rs76065326917:73,824,853T/G—likely benign
rs128389714017:73,824,855G/C—likely benign
rs123254238217:73,824,868C/T—conflicting classifications of pathogenicity
rs76427902617:73,824,869G/A—uncertain significance
rs75429943217:73,824,870T/C—uncertain significance
rs143594898917:73,824,872G/T—likely benign
rs75074331817:73,824,874G/C—uncertain significance
rs75878122917:73,824,877C/T—uncertain significance
rs86689910917:73,824,878G/T—conflicting classifications of pathogenicity
rs77965462117:73,824,879G/A—uncertain significance
rs74671463717:73,824,884C/T—likely benign
rs20114697317:73,824,885G/A—uncertain significance
rs78081149517:73,824,892G/A—uncertain significance
rs37447831017:73,824,897C/T—uncertain significance
rs77331441817:73,824,901T/C—uncertain significance
rs135079009917:73,824,916C/T—uncertain significance
rs133679716717:73,824,927G/C—uncertain significance
rs36857767617:73,824,935C/G—likely benign
rs206214151117:73,824,937G/C—uncertain significance
rs76102826617:73,824,938C/G—likely benign
rs76860829117:73,824,939C/G—uncertain significance
rs77670343717:73,824,940C/T—uncertain significance
rs37203411117:73,824,941G/A—conflicting classifications of pathogenicity
rs76568008017:73,824,942G/A—uncertain significance
rs75097413617:73,824,944C/G—likely benign
rs75115759017:73,824,951C/T—uncertain significance
rs14059993917:73,824,952G/A—conflicting classifications of pathogenicity
rs75570909417:73,824,956C/A—likely benign
rs37515346417:73,824,957G/A—uncertain significance
rs77882935517:73,824,966G/T—pathogenic
rs55399229217:73,824,967C/A—uncertain significance
rs36821129717:73,824,968C/T—likely benign
rs77673715617:73,824,970C/T—conflicting classifications of pathogenicity
rs11127903917:73,824,971G/A—uncertain significance
rs206214197817:73,824,975T/C—uncertain significance
rs76989780817:73,824,980G/A—likely benign
rs14083721417:73,824,982C/T—uncertain significance
rs20123862117:73,824,983G/A—likely benign
rs124085931517:73,824,985C/T—uncertain significance
rs14473086117:73,824,986G/A—conflicting classifications of pathogenicity
rs57385582517:73,824,987G/T—uncertain significance
rs76715017517:73,824,989C/T—likely benign
rs56235767917:73,824,995C/T—likely benign

Showing 100 of 1,270 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.