NPC2

NPC intracellular cholesterol transporter 2

Summary

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]

Known Variants204 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs113587712	14:74,946,682	G/C	—	conflicting classifications of pathogenicity
rs75936194	14:74,946,706	G/A	—	likely benign
rs185533644	14:74,946,740	C/T	—	uncertain significance
rs142355730	14:74,946,823	C/T	—	likely benign
rs780515697	14:74,946,862	G/A	—	uncertain significance
rs146900446	14:74,946,891	C/T	—	uncertain significance
rs80216539	14:74,946,968	A/G	—	likely benign
rs760917535	14:74,946,975	A/C	—	uncertain significance
rs1162911732	14:74,946,978	T/C	—	likely benign
rs2086642019	14:74,946,979	A/G	—	uncertain significance
rs766378122	14:74,946,980	G/C	—	conflicting classifications of pathogenicity
rs374489111	14:74,946,983	A/G	—	conflicting classifications of pathogenicity
rs1555345562	14:74,946,992	C/T	—	uncertain significance
rs114950106	14:74,946,995	T/G	—	likely benign
rs758764082	14:74,946,999	T/G	—	likely benign
rs2506099028	14:74,947,000	G/A	—	likely benign
rs2506099032	14:74,947,001	T/C	—	likely benign
rs2506099038	14:74,947,004	T/C	—	likely benign
rs1290370120	14:74,947,008	C/T	—	likely benign
rs10220503	14:74,947,092	C/A	—	likely benign
rs61738594	14:74,947,337	G/A	—	likely benign
rs139314541	14:74,947,375	C/T	—	uncertain significance
rs1347100738	14:74,947,388	C/G	—	likely benign
rs2086647223	14:74,947,389	C/A	—	likely benign
rs2506099833	14:74,947,392	C/T	—	likely benign
rs2506099838	14:74,947,395	A/G	—	likely benign
rs372464598	14:74,947,396	T/C	—	likely benign
rs2506099841	14:74,947,397	A/G	—	likely benign
rs140130028	14:74,947,404	C/T	splice region variant	pathogenic
rs2139664443	14:74,947,409	T/C	—	uncertain significance
rs104894457	14:74,947,410	G/A	stop gained	pathogenic
rs528199992	14:74,947,417	G/T	—	likely benign
rs1555345616	14:74,947,424	C/T	—	pathogenic
rs1323196897	14:74,947,432	G/T	—	likely benign
rs2086648005	14:74,947,440	G/C	—	uncertain significance
rs2506099906	14:74,947,444	T/C	—	likely benign
rs768016909	14:74,947,446	T/G	—	uncertain significance
rs2506099932	14:74,947,453	C/T	—	likely benign
rs759115594	14:74,947,458	G/A	—	uncertain significance
rs1412520435	14:74,947,465	C/G	—	uncertain significance
rs2139664539	14:74,947,471	C/T	—	likely benign
rs752134010	14:74,947,473	C/A	—	uncertain significance
rs2139664545	14:74,947,474	C/G	—	likely benign
rs757968557	14:74,947,476	G/A	—	likely benign
rs777654308	14:74,947,484	T/C	—	likely pathogenic
rs927248655	14:74,947,485	G/A	—	uncertain significance
rs1352203929	14:74,947,490	A/C	—	likely benign
rs2086648557	14:74,947,492	G/A	—	likely benign
rs751545027	14:74,947,493	A/G	—	likely benign
rs897207821	14:74,947,495	A/G	—	likely benign
rs2506100027	14:74,947,502	A/G	—	likely benign
rs10148268	14:74,950,964	T/C	—	benign
rs2506104284	14:74,951,098	T/C	—	likely benign
rs768909280	14:74,951,100	A/T	—	likely benign
rs774951647	14:74,951,101	A/G	—	likely benign
rs1424375766	14:74,951,105	T/C	—	likely benign
rs200463204	14:74,951,111	C/T	—	conflicting classifications of pathogenicity
rs2086686955	14:74,951,117	C/T	—	likely pathogenic
rs2506104331	14:74,951,121	G/A	—	likely benign
rs104894458	14:74,951,123	G/T	missense variant	pathogenic
rs2086687086	14:74,951,124	A/T	—	likely pathogenic
rs80358266	14:74,951,129	C/T	missense variant	uncertain significance
rs1183033999	14:74,951,130	G/A	—	likely benign
rs2506104353	14:74,951,132	T/G	—	uncertain significance
rs2506104366	14:74,951,139	T/C	—	likely benign
rs2506104391	14:74,951,146	T/C	—	uncertain significance
rs2086687425	14:74,951,147	T/A	—	likely pathogenic
rs757377148	14:74,951,148	A/C	—	uncertain significance
rs762424530	14:74,951,151	C/G	—	likely benign
rs2139667951	14:74,951,154	G/A	—	likely benign
rs2506104409	14:74,951,160	A/G	—	likely benign
rs763613633	14:74,951,163	G/C	—	likely benign
rs1220089148	14:74,951,166	C/T	—	likely benign
rs751455041	14:74,951,169	G/A	—	likely benign
rs930750290	14:74,951,176	T/C	—	uncertain significance
rs2086687862	14:74,951,177	G/A	—	likely pathogenic
rs2506104439	14:74,951,178	G/C	—	uncertain significance
rs2086687936	14:74,951,184	G/T	—	likely pathogenic
rs2506104453	14:74,951,185	C/A	—	uncertain significance
rs80358264	14:74,951,186	A/G	missense variant	pathogenic
rs1192101137	14:74,951,187	G/A	—	likely benign
rs142858704	14:74,951,189	T/G	—	uncertain significance
rs2506104474	14:74,951,199	C/T	—	likely benign
rs143960270	14:74,951,203	C/A	—	conflicting classifications of pathogenicity
rs2506104497	14:74,951,205	A/G	—	likely benign
rs151071820	14:74,951,208	A/G	—	conflicting classifications of pathogenicity
rs148607507	14:74,951,210	C/T	—	uncertain significance
rs758503440	14:74,951,211	A/G	—	conflicting classifications of pathogenicity
rs1391975409	14:74,951,214	C/T	—	likely benign
rs1011669605	14:74,951,217	A/G	—	conflicting classifications of pathogenicity
rs2139668049	14:74,951,219	G/A	—	uncertain significance
rs779138735	14:74,951,222	T/A	—	uncertain significance
rs2506104537	14:74,951,223	G/A	—	likely benign
rs780482626	14:74,951,235	T/A	—	likely benign
rs772444418	14:74,951,240	C/T	—	uncertain significance
rs773836291	14:74,951,241	G/A	—	conflicting classifications of pathogenicity
rs2506104604	14:74,951,247	C/T	—	likely benign
rs2506104611	14:74,951,249	G/C	—	uncertain significance
rs762621803	14:74,951,258	G/A	—	uncertain significance
rs763523833	14:74,951,259	C/G	—	likely benign

Showing 100 of 204 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.