VLDLR

very low density lipoprotein receptor

Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]

Known Variants660 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1454626	9:2,621,030	C/G	—	—
rs7043199	9:2,621,145	T/A	regulatory region variant	—
rs7852409	9:2,621,482	G/C	—	benign
rs561418350	9:2,621,559	G/A	—	likely benign
rs530164662	9:2,621,560	A/G	—	likely benign
rs142199771	9:2,621,564	G/A	—	likely benign
rs113361299	9:2,621,675	A/G	—	likely benign
rs867729388	9:2,621,798	C/T	—	uncertain significance
rs557105742	9:2,621,855	C/T	—	uncertain significance
rs1816795166	9:2,621,887	C/G	—	uncertain significance
rs1007541973	9:2,621,888	T/C	—	uncertain significance
rs1429851395	9:2,621,983	G/A	—	uncertain significance
rs35763266	9:2,622,019	G/C	—	conflicting classifications of pathogenicity
rs985479340	9:2,622,036	C/G	—	uncertain significance
rs886063802	9:2,622,068	T/C	—	uncertain significance
rs886063803	9:2,622,069	C/T	—	uncertain significance
rs34433332	9:2,622,077	C/G	—	conflicting classifications of pathogenicity
rs374367278	9:2,622,079	C/T	—	conflicting classifications of pathogenicity
rs1816811812	9:2,622,091	C/G	—	uncertain significance
rs12379259	9:2,622,121	A/G	—	benign
rs34881325	9:2,622,134	T/C	—	benign
rs1054805961	9:2,622,142	G/C	—	uncertain significance
rs797046092	9:2,622,191	T/C	missense variant	pathogenic
rs1203092992	9:2,622,195	C/G	—	likely benign
rs1018964610	9:2,622,196	A/C	—	uncertain significance
rs965977991	9:2,622,198	G/T	—	likely benign
rs993549113	9:2,622,203	C/T	—	uncertain significance
rs760735837	9:2,622,204	G/A	—	likely benign
rs766858740	9:2,622,207	C/T	—	likely benign
rs34336270	9:2,622,213	G/A	—	likely benign
rs2488686350	9:2,622,216	C/T	—	likely benign
rs765626542	9:2,622,220	C/T	—	likely benign
rs1357709021	9:2,622,222	G/A	—	likely benign
rs752246027	9:2,622,228	C/T	—	likely benign
rs2488686422	9:2,622,231	G/A	—	likely benign
rs1320072162	9:2,622,232	C/G	—	uncertain significance
rs1292956335	9:2,622,234	G/A	—	likely benign
rs763718498	9:2,622,246	C/A	—	likely benign
rs1816834071	9:2,622,249	G/A	—	likely benign
rs764757062	9:2,622,253	A/T	—	uncertain significance
rs754340855	9:2,622,260	C/A	—	conflicting classifications of pathogenicity
rs532555108	9:2,622,264	C/T	—	likely benign
rs1554617758	9:2,622,267	A/T	—	uncertain significance
rs1064796597	9:2,622,271	G/A	—	uncertain significance
rs2219143	9:2,622,278	A/G	—	benign
rs1054309178	9:2,622,280	G/A	—	likely benign
rs748252893	9:2,622,287	C/T	—	likely benign
rs773364053	9:2,622,289	C/G	—	likely benign
rs34222624	9:2,622,315	G/C	—	likely benign
rs36094506	9:2,622,323	G/C	—	likely benign
rs7856686	9:2,622,547	C/T	—	benign
rs7874933	9:2,622,554	C/T	—	benign
rs10967213	9:2,625,172	T/C	—	—
rs7030221	9:2,635,116	G/C	—	benign
rs34843491	9:2,635,195	T/G	—	likely benign
rs2488711140	9:2,635,434	T/C	—	likely benign
rs2488711154	9:2,635,438	C/G	—	likely benign
rs542440960	9:2,635,439	C/T	—	likely benign
rs2488711160	9:2,635,440	C/G	—	likely benign
rs781266215	9:2,635,441	T/G	—	likely benign
rs1313487512	9:2,635,443	C/T	—	likely benign
rs2488711172	9:2,635,447	T/C	—	likely benign
rs770269674	9:2,635,452	G/A	splice region variant	pathogenic
rs2130778088	9:2,635,473	C/G	—	uncertain significance
rs113809568	9:2,635,474	C/T	—	conflicting classifications of pathogenicity
rs1817561200	9:2,635,490	C/A	—	pathogenic
rs760319642	9:2,635,501	G/A	—	likely benign
rs763801214	9:2,635,510	C/T	—	uncertain significance
rs372980901	9:2,635,511	G/A	—	likely benign
rs1370307928	9:2,635,512	C/T	—	likely benign
rs2488711363	9:2,635,519	G/A	—	pathogenic
rs2488711398	9:2,635,534	A/G	—	uncertain significance
rs6149	9:2,635,545	G/A	—	likely benign
rs151277117	9:2,635,550	C/T	—	likely benign
rs2488711470	9:2,635,558	A/T	—	uncertain significance
rs2488711534	9:2,635,579	A/G	—	likely benign
rs2488711605	9:2,635,592	A/G	—	likely benign
rs138179675	9:2,635,730	G/A	—	likely benign
rs34156497	9:2,639,533	A/G	—	benign
rs35464166	9:2,639,745	T/C	—	benign
rs540371859	9:2,639,842	C/G	—	likely benign
rs1438589521	9:2,639,844	A/C	—	likely benign
rs1285593346	9:2,639,850	C/T	—	likely benign
rs1042398874	9:2,639,851	G/A	—	likely benign
rs749734323	9:2,639,855	G/A	—	conflicting classifications of pathogenicity
rs748502536	9:2,639,869	G/A	—	likely benign
rs1191355507	9:2,639,873	G/A	—	uncertain significance
rs2488718308	9:2,639,875	T/C	—	likely benign
rs772606236	9:2,639,887	C/T	—	likely benign
rs367862086	9:2,639,888	G/A	—	uncertain significance
rs140526335	9:2,639,898	A/G	—	likely benign
rs1563755176	9:2,639,914	C/T	—	likely benign
rs557461624	9:2,639,919	G/A	—	uncertain significance
rs2488718465	9:2,639,933	G/C	—	uncertain significance
rs762694893	9:2,639,936	G/A	—	uncertain significance
rs750584489	9:2,639,947	C/A	—	pathogenic
rs200596776	9:2,639,948	G/A	—	uncertain significance
rs753848585	9:2,639,955	G/C	—	uncertain significance
rs2488718550	9:2,639,959	A/C	—	likely benign
rs577402784	9:2,639,967	G/T	—	uncertain significance

Showing 100 of 660 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.