VPS13D

vacuolar protein sorting 13 homolog D

Summary

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]

Known Variants1,158 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs762562345	1:12,294,333	G/A	—	uncertain significance
rs763588507	1:12,294,337	T/C	—	uncertain significance
rs201517076	1:12,294,340	T/C	—	uncertain significance
rs1394314508	1:12,294,359	C/T	—	likely benign
rs780680462	1:12,294,379	A/G	—	uncertain significance
rs777861657	1:12,294,414	C/T	—	uncertain significance
rs149995860	1:12,294,420	G/C	—	uncertain significance
rs35946916	1:12,302,387	G/A	—	benign
rs746763466	1:12,302,556	G/C	—	likely benign
rs768342596	1:12,302,577	T/C	—	likely benign
rs140004020	1:12,302,595	A/G	—	benign
rs769738846	1:12,302,606	A/G	—	uncertain significance
rs375130709	1:12,302,640	C/G	—	likely benign
rs768708131	1:12,302,642	A/T	—	uncertain significance
rs2523848930	1:12,302,658	C/A	—	likely benign
rs200737923	1:12,302,660	A/G	—	likely benign
rs753099408	1:12,304,286	T/G	—	likely benign
rs1014482388	1:12,304,291	T/C	—	likely benign
rs138252431	1:12,304,310	T/C	—	likely benign
rs746112645	1:12,304,323	C/T	—	uncertain significance
rs1020666894	1:12,304,369	C/T	—	uncertain significance
rs1640476584	1:12,304,378	G/C	—	uncertain significance
rs747997002	1:12,304,379	C/G	—	uncertain significance
rs150965747	1:12,304,403	G/T	—	conflicting classifications of pathogenicity
rs776251343	1:12,304,420	A/G	—	uncertain significance
rs1267012436	1:12,304,423	A/G	—	uncertain significance
rs2101210363	1:12,304,433	G/A	—	likely benign
rs750569014	1:12,304,461	G/A	—	uncertain significance
rs2523857400	1:12,304,473	G/T	—	uncertain significance
rs752503639	1:12,304,600	C/T	—	uncertain significance
rs758174739	1:12,304,601	G/A	—	uncertain significance
rs559914658	1:12,304,638	C/T	—	likely benign
rs34489138	1:12,304,644	C/T	—	benign
rs143532013	1:12,304,645	G/A	—	uncertain significance
rs1180374682	1:12,304,650	T/C	—	likely benign
rs201857611	1:12,304,654	A/G	—	uncertain significance
rs2523858629	1:12,304,687	G/A	—	likely benign
rs1431617119	1:12,304,689	C/G	—	likely benign
rs79820334	1:12,304,694	A/G	—	benign
rs116415833	1:12,309,291	A/C	—	conflicting classifications of pathogenicity
rs200718311	1:12,309,309	T/A	—	uncertain significance
rs764278275	1:12,309,326	A/G	—	uncertain significance
rs751395719	1:12,309,329	C/T	—	uncertain significance
rs767410275	1:12,309,344	C/G	—	uncertain significance
rs185443968	1:12,309,350	G/A	—	uncertain significance
rs779567569	1:12,309,362	A/G	—	uncertain significance
rs72864967	1:12,309,363	G/C	—	benign
rs369881745	1:12,309,378	A/G	—	likely benign
rs777005353	1:12,309,385	G/A	—	uncertain significance
rs775596233	1:12,309,404	T/A	—	likely benign
rs372965660	1:12,313,762	T/C	—	likely benign
rs777691586	1:12,313,805	A/C	—	uncertain significance
rs1429738635	1:12,313,816	C/G	—	uncertain significance
rs61774897	1:12,313,827	A/C	—	uncertain significance
rs146889077	1:12,313,828	T/C	—	uncertain significance
rs1640818554	1:12,313,837	A/T	—	uncertain significance
rs150048612	1:12,313,841	C/T	—	likely benign
rs145337192	1:12,313,842	G/A	—	uncertain significance
rs147789891	1:12,313,853	A/G	—	likely benign
rs528997969	1:12,313,858	G/A	—	uncertain significance
rs1640819507	1:12,313,867	C/T	—	uncertain significance
rs373316874	1:12,313,887	C/T	—	uncertain significance
rs777260494	1:12,313,893	C/T	—	likely benign
rs377694370	1:12,313,894	G/A	—	likely benign
rs200154827	1:12,313,901	A/G	—	likely benign
rs235247	1:12,316,371	G/T	—	benign
rs2523918910	1:12,316,385	C/A	—	likely benign
rs541234265	1:12,316,392	G/A	—	likely benign
rs12057307	1:12,316,393	G/A	—	benign
rs973655867	1:12,316,396	A/G	—	uncertain significance
rs958973671	1:12,316,398	G/A	—	uncertain significance
rs1010150327	1:12,316,406	G/A	—	uncertain significance
rs148067811	1:12,316,413	G/A	—	likely benign
rs368088840	1:12,316,418	G/A	—	uncertain significance
rs1640921433	1:12,316,430	A/G	—	uncertain significance
rs550494980	1:12,316,431	C/T	—	likely benign
rs116668522	1:12,316,432	G/A	—	benign
rs780349517	1:12,316,443	T/C	—	likely benign
rs1258056700	1:12,316,452	A/C	—	likely benign
rs770870039	1:12,316,472	A/G	—	uncertain significance
rs572902328	1:12,316,483	A/G	—	uncertain significance
rs775276225	1:12,316,485	G/C	—	uncertain significance
rs531168507	1:12,316,513	A/G	—	uncertain significance
rs751251921	1:12,316,515	T/G	—	uncertain significance
rs1640925103	1:12,316,519	T/A	—	uncertain significance
rs1468771108	1:12,316,545	C/G	—	likely benign
rs370671308	1:12,316,548	G/A	—	likely benign
rs757588941	1:12,316,552	C/T	—	uncertain significance
rs1306850952	1:12,316,568	C/A	—	likely benign
rs235246	1:12,316,584	A/G	—	benign
rs2523923441	1:12,317,038	A/G	—	likely benign
rs2523923494	1:12,317,047	C/T	—	pathogenic
rs138858983	1:12,317,052	C/T	—	likely benign
rs770439949	1:12,317,053	C/T	—	uncertain significance
rs2523923675	1:12,317,061	C/T	—	likely benign
rs368630174	1:12,317,074	A/G	—	likely benign
rs569780362	1:12,317,082	G/A	—	benign
rs749080570	1:12,317,087	G/A	—	uncertain significance
rs1442036670	1:12,317,088	A/G	—	likely benign
rs2523923960	1:12,317,099	A/G	—	uncertain significance

Showing 100 of 1,158 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.