DDHD2

DDHD domain containing 2

Summary

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Known Variants259 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs182341575	8:38,090,533	A/G	—	likely benign
rs1457593168	8:38,090,542	G/C	—	uncertain significance
rs1804416116	8:38,090,564	C/G	—	uncertain significance
rs1804416698	8:38,090,570	C/T	—	uncertain significance
rs2486748324	8:38,090,607	A/T	—	uncertain significance
rs1358332959	8:38,090,617	C/G	—	uncertain significance
rs200883537	8:38,090,651	T/G	—	uncertain significance
rs2486749357	8:38,090,708	C/T	—	pathogenic
rs2130733689	8:38,090,750	C/T	—	likely benign
rs2486749697	8:38,090,752	T/G	—	likely benign
rs112015768	8:38,090,766	A/G	—	likely benign
rs779082411	8:38,091,893	C/T	—	likely benign
rs1804535557	8:38,091,901	A/G	—	uncertain significance
rs746277193	8:38,091,903	C/T	—	likely benign
rs141644282	8:38,091,917	G/T	—	conflicting classifications of pathogenicity
rs150361106	8:38,091,918	G/A	—	likely benign
rs1804537899	8:38,091,932	G/A	—	uncertain significance
rs1206039082	8:38,091,958	T/C	—	likely benign
rs1346496290	8:38,091,959	G/A	—	uncertain significance
rs544728429	8:38,091,968	T/C	—	conflicting classifications of pathogenicity
rs1003263082	8:38,091,970	G/T	—	uncertain significance
rs202216406	8:38,091,971	G/T	—	uncertain significance
rs372220151	8:38,091,983	C/T	—	uncertain significance
rs767339299	8:38,091,987	A/C	—	uncertain significance
rs144436068	8:38,091,995	T/C	—	uncertain significance
rs765795609	8:38,092,003	T/G	—	uncertain significance
rs750941346	8:38,092,012	A/G	—	likely benign
rs755267771	8:38,092,025	C/T	—	pathogenic
rs781089161	8:38,092,026	G/T	—	uncertain significance
rs748280169	8:38,092,029	G/T	—	uncertain significance
rs774309381	8:38,092,033	G/A	—	likely benign
rs148587720	8:38,092,051	C/G	—	uncertain significance
rs144993452	8:38,092,059	A/G	—	uncertain significance
rs191787470	8:38,092,061	A/G	—	uncertain significance
rs201640343	8:38,092,066	T/C	—	likely benign
rs750939885	8:38,092,070	C/G	—	uncertain significance
rs1334551717	8:38,092,072	C/T	—	uncertain significance
rs748398783	8:38,092,077	C/T	—	uncertain significance
rs766794813	8:38,092,078	G/C	—	uncertain significance
rs1804553094	8:38,092,081	G/A	—	likely benign
rs201121892	8:38,092,084	C/G	—	conflicting classifications of pathogenicity
rs772199158	8:38,092,091	C/T	—	likely pathogenic
rs1804555428	8:38,092,106	T/C	—	uncertain significance
rs562827417	8:38,092,108	C/T	—	uncertain significance
rs1804898675	8:38,095,045	T/G	—	likely benign
rs375616631	8:38,095,048	C/G	—	likely benign
rs939799061	8:38,095,064	C/A	—	pathogenic
rs1554512152	8:38,095,072	C/T	—	uncertain significance
rs1036771106	8:38,095,097	G/A	—	likely benign
rs143782453	8:38,095,099	A/G	—	uncertain significance
rs1013939450	8:38,095,111	C/G	—	uncertain significance
rs777858708	8:38,095,115	C/A	—	uncertain significance
rs1335392886	8:38,095,143	A/G	—	uncertain significance
rs112983079	8:38,095,317	C/T	—	likely benign
rs373642362	8:38,095,588	C/A	—	likely benign
rs375704564	8:38,095,598	C/T	—	likely benign
rs1317990232	8:38,095,600	G/T	—	likely benign
rs754889897	8:38,095,613	G/A	—	uncertain significance
rs1424300803	8:38,095,622	C/T	—	likely pathogenic
rs1804950756	8:38,095,645	T/C	—	likely benign
rs2306899	8:38,095,662	C/T	—	benign
rs149994413	8:38,095,663	G/A	—	likely benign
rs776830636	8:38,095,671	G/T	—	uncertain significance
rs377293194	8:38,095,673	C/T	—	conflicting classifications of pathogenicity
rs755852058	8:38,095,713	T/C	—	uncertain significance
rs2130772829	8:38,095,717	C/T	—	likely benign
rs777766103	8:38,095,718	A/G	—	uncertain significance
rs145155378	8:38,095,723	T/C	—	likely benign
rs185403049	8:38,095,739	C/T	—	likely benign
rs768997599	8:38,095,740	G/A	—	likely benign
rs115996160	8:38,095,987	T/A	—	likely benign
rs140717426	8:38,097,531	G/A	—	likely benign
rs111425974	8:38,097,736	A/T	—	likely benign
rs376771682	8:38,097,798	C/A	—	uncertain significance
rs970900391	8:38,097,808	T/C	—	uncertain significance
rs2486830889	8:38,097,832	A/G	—	uncertain significance
rs180936280	8:38,097,837	A/G	—	uncertain significance
rs764149817	8:38,097,858	C/T	—	uncertain significance
rs1249841130	8:38,097,864	C/T	—	pathogenic
rs761670911	8:38,097,865	G/A	—	uncertain significance
rs560050475	8:38,097,869	C/T	—	conflicting classifications of pathogenicity
rs750032971	8:38,097,877	A/C	—	uncertain significance
rs2486831665	8:38,097,887	G/A	—	uncertain significance
rs1380005347	8:38,099,779	C/T	—	conflicting classifications of pathogenicity
rs767497993	8:38,099,780	G/A	—	conflicting classifications of pathogenicity
rs772317385	8:38,099,811	T/C	—	likely benign
rs776706696	8:38,099,850	A/G	—	likely benign
rs1805323000	8:38,099,870	G/A	—	pathogenic
rs1805323544	8:38,099,875	A/G	—	uncertain significance
rs2130795209	8:38,099,880	T/G	—	likely benign
rs56365338	8:38,100,688	G/A	intron variant	—
rs7006757	8:38,103,239	T/A	—	benign
rs766574314	8:38,103,240	A/C	—	likely benign
rs368366779	8:38,103,244	T/C	—	likely benign
rs764638887	8:38,103,267	C/T	—	pathogenic
rs398122826	8:38,103,270	C/T	stop gained	pathogenic
rs148904419	8:38,103,275	A/C	—	likely benign
rs2130812100	8:38,103,279	C/T	—	likely benign
rs780244159	8:38,103,287	C/T	—	likely benign
rs561561545	8:38,103,295	G/A	—	uncertain significance

Showing 100 of 259 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.