PEX10

peroxisomal biogenesis factor 10

Summary

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants578 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1129332	1:2,336,210	C/T	downstream gene variant	—
rs1642943783	1:2,336,254	C/G	—	uncertain significance
rs1316891759	1:2,336,300	T/G	—	uncertain significance
rs556816263	1:2,336,351	C/T	—	uncertain significance
rs886046135	1:2,336,367	G/A	—	uncertain significance
rs886046136	1:2,336,370	G/A	—	uncertain significance
rs1288938989	1:2,336,381	C/T	—	uncertain significance
rs886046137	1:2,336,407	G/A	—	uncertain significance
rs886046138	1:2,336,423	G/T	—	uncertain significance
rs886046140	1:2,336,473	C/T	—	uncertain significance
rs886046141	1:2,336,517	C/A	—	uncertain significance
rs41310349	1:2,336,519	G/C	—	uncertain significance
rs77863194	1:2,336,529	G/A	—	likely benign
rs150136015	1:2,336,562	G/A	—	uncertain significance
rs886046142	1:2,336,578	G/A	—	uncertain significance
rs760677467	1:2,336,611	G/A	—	uncertain significance
rs886046143	1:2,336,706	C/T	—	uncertain significance
rs557941413	1:2,336,760	C/T	—	uncertain significance
rs868844283	1:2,336,785	C/T	—	uncertain significance
rs886046144	1:2,336,795	C/T	—	uncertain significance
rs866387988	1:2,336,804	T/G	—	uncertain significance
rs115735911	1:2,336,853	C/T	—	benign
rs539850807	1:2,336,895	C/T	—	uncertain significance
rs758081067	1:2,336,901	G/A	—	uncertain significance
rs1389854882	1:2,337,030	A/G	—	uncertain significance
rs1129171	1:2,337,032	T/C	—	benign
rs886046145	1:2,337,114	T/C	—	uncertain significance
rs886046146	1:2,337,189	C/T	—	uncertain significance
rs3795270	1:2,337,194	C/T	—	benign
rs367845280	1:2,337,195	G/A	—	uncertain significance
rs760288494	1:2,337,198	C/A	—	uncertain significance
rs778701948	1:2,337,202	G/A	—	uncertain significance
rs1358135448	1:2,337,205	T/C	—	uncertain significance
rs1432462972	1:2,337,206	C/T	—	likely benign
rs779199089	1:2,337,207	A/G	—	uncertain significance
rs2522247995	1:2,337,208	G/C	—	likely benign
rs140890506	1:2,337,209	C/T	—	uncertain significance
rs566941490	1:2,337,210	G/A	—	uncertain significance
rs781194710	1:2,337,218	C/G	—	uncertain significance
rs148903253	1:2,337,219	G/A	—	uncertain significance
rs780114946	1:2,337,223	G/A	—	likely benign
rs371260973	1:2,337,226	G/C	—	uncertain significance
rs769097644	1:2,337,227	A/G	—	uncertain significance
rs1458600804	1:2,337,229	G/A	—	likely benign
rs995942123	1:2,337,233	T/C	—	uncertain significance
rs762351770	1:2,337,234	T/C	—	uncertain significance
rs1642979023	1:2,337,240	G/A	—	uncertain significance
rs1379165614	1:2,337,241	A/G	—	likely benign
rs2100418995	1:2,337,242	G/C	—	uncertain significance
rs2522248653	1:2,337,244	G/A	—	likely benign
rs148057567	1:2,337,246	A/G	—	uncertain significance
rs886043985	1:2,337,252	C/T	—	uncertain significance
rs2522248746	1:2,337,253	C/T	—	likely benign
rs724160001	1:2,337,254	C/T	missense variant	pathogenic
rs765965290	1:2,337,255	G/A	—	uncertain significance
rs1414046448	1:2,337,257	C/T	—	uncertain significance
rs753384584	1:2,337,258	A/G	—	uncertain significance
rs1175081963	1:2,337,260	A/T	—	uncertain significance
rs1375703281	1:2,337,262	G/T	—	likely benign
rs1402121158	1:2,337,264	G/A	—	uncertain significance
rs1418762869	1:2,337,267	A/G	—	uncertain significance
rs1316677222	1:2,337,268	C/T	—	likely benign
rs374891812	1:2,337,271	C/T	—	conflicting classifications of pathogenicity
rs200139330	1:2,337,272	G/A	—	uncertain significance
rs2100419175	1:2,337,273	C/T	—	uncertain significance
rs752506584	1:2,337,274	C/T	—	likely pathogenic
rs758250423	1:2,337,275	T/G	—	conflicting classifications of pathogenicity
rs777570617	1:2,337,276	G/A	—	uncertain significance
rs11586985	1:2,337,277	C/T	—	benign
rs756094275	1:2,337,278	G/A	—	likely benign
rs1642980853	1:2,337,282	A/G	—	likely benign
rs1022471292	1:2,337,284	G/A	—	likely benign
rs969924009	1:2,337,287	A/G	—	likely benign
rs1553231615	1:2,337,288	A/G	—	likely benign
rs374203579	1:2,337,289	A/G	—	likely benign
rs1281864112	1:2,337,290	G/C	—	likely benign
rs2522249541	1:2,337,292	G/A	—	likely benign
rs2522249563	1:2,337,293	G/A	—	likely benign
rs2494426	1:2,337,537	C/G	—	benign
rs55746053	1:2,337,560	A/G	—	likely benign
rs139004865	1:2,337,875	C/T	—	likely benign
rs1458746161	1:2,337,903	G/A	—	likely benign
rs2522255894	1:2,337,904	C/G	—	likely benign
rs778438020	1:2,337,905	A/G	—	likely benign
rs757219158	1:2,337,906	G/A	—	likely benign
rs2100421277	1:2,337,909	G/T	—	likely benign
rs753953758	1:2,337,910	G/C	—	likely benign
rs1166297442	1:2,337,915	C/T	—	uncertain significance
rs1553231739	1:2,337,922	C/G	—	pathogenic
rs374371284	1:2,337,924	T/C	—	uncertain significance
rs2522256124	1:2,337,926	G/A	—	likely benign
rs2100421331	1:2,337,927	C/G	—	uncertain significance
rs748431314	1:2,337,930	C/T	—	uncertain significance
rs1643006514	1:2,337,936	C/T	—	pathogenic
rs372779905	1:2,337,938	C/T	—	likely benign
rs78620392	1:2,337,939	G/A	—	conflicting classifications of pathogenicity
rs371030713	1:2,337,940	C/T	—	uncertain significance
rs138406081	1:2,337,941	G/A	—	likely benign
rs1338124684	1:2,337,947	G/A	—	likely benign
rs777066508	1:2,337,950	C/T	—	likely benign

Showing 100 of 578 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.