PEX12

peroxisomal biogenesis factor 12

Summary

This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Known Variants391 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57676103817:33,901,878C/T—uncertain significance
rs88605282317:33,901,879A/G—uncertain significance
rs1006817:33,901,965C/G—benign
rs57197507017:33,902,018T/G—uncertain significance
rs18590092217:33,902,020A/T—benign
rs88605282417:33,902,023C/T—uncertain significance
rs76209909517:33,902,093C/T—uncertain significance
rs11142437417:33,902,165A/G—benign
rs54159868817:33,902,232A/T—uncertain significance
rs88605282617:33,902,269T/C—uncertain significance
rs129850566817:33,902,281T/C—uncertain significance
rs88605282717:33,902,282T/C—uncertain significance
rs104632117:33,902,284T/C—benign
rs19237069617:33,902,292A/C—likely benign
rs88605282817:33,902,327T/C—uncertain significance
rs88605282917:33,902,368A/G—uncertain significance
rs207277867217:33,902,390T/G—uncertain significance
rs76271633517:33,902,421C/G—uncertain significance
rs88605283017:33,902,466A/G—uncertain significance
rs11389171217:33,902,504A/G—benign
rs103759017:33,902,635G/T—benign
rs99601711717:33,902,692T/C—uncertain significance
rs75103391917:33,902,762C/T—uncertain significance
rs75669466417:33,902,763G/A—uncertain significance
rs77953014717:33,902,813G/A—likely benign
rs143898369117:33,902,814G/A—uncertain significance
rs116704627617:33,902,816G/A—likely benign
rs98102539717:33,902,819G/C—likely benign
rs92808546317:33,902,821G/C—uncertain significance
rs74830888617:33,902,830G/A—likely benign
rs207278115617:33,902,839C/T—uncertain significance
rs250916761617:33,902,843T/C—likely benign
rs135278375417:33,902,849A/G—likely benign
rs214222874217:33,902,854C/T—uncertain significance
rs143818727117:33,902,856G/A—uncertain significance
rs250916764317:33,902,857T/C—uncertain significance
rs214222875517:33,902,859A/T—uncertain significance
rs77202804517:33,902,860T/A—uncertain significance
rs250916766417:33,902,861G/A—likely benign
rs104715550717:33,902,867A/C—likely benign
rs207278137417:33,902,869C/T—uncertain significance
rs76073989417:33,902,872G/A—pathogenic
rs129182369717:33,902,873G/T—uncertain significance
rs214222877117:33,902,875G/A—uncertain significance
rs250916768517:33,902,876A/T—uncertain significance
rs132193728217:33,902,878T/G—uncertain significance
rs20028371817:33,902,879C/T—conflicting classifications of pathogenicity
rs76291250217:33,902,884C/A—uncertain significance
rs250916771317:33,902,894C/T—likely benign
rs55783441617:33,902,901C/T—uncertain significance
rs75142978417:33,902,902G/A—uncertain significance
rs94135813317:33,902,903G/T—likely pathogenic
rs76144514317:33,902,909A/G—likely benign
rs214222884817:33,902,912C/T—likely benign
rs214222885317:33,902,914C/G—uncertain significance
rs143074666217:33,902,915A/G—likely benign
rs250916776217:33,902,918G/C—likely benign
rs2893669717:33,902,922G/Amissense variantpathogenic
rs250916777917:33,902,924G/C—likely benign
rs6175211217:33,902,932G/Amissense variantpathogenic
rs129720204917:33,902,934A/C—uncertain significance
rs75009732217:33,902,935C/G—uncertain significance
rs250916780517:33,902,936A/T—likely benign
rs214222888417:33,902,937G/T—uncertain significance
rs136648232017:33,902,941C/G—uncertain significance
rs250916782417:33,902,942A/T—uncertain significance
rs214222890117:33,902,945C/T—likely benign
rs78059586417:33,902,949C/T—uncertain significance
rs37366624817:33,902,950G/A—uncertain significance
rs250916787117:33,902,960A/G—likely benign
rs74859591817:33,902,966T/A—likely benign
rs144413362817:33,902,968G/C—uncertain significance
rs77219416417:33,902,969G/A—likely benign
rs214222894917:33,902,973A/G—uncertain significance
rs77765457217:33,902,974C/T—uncertain significance
rs37127743417:33,902,975A/G—likely benign
rs37386046717:33,902,976G/A—uncertain significance
rs14557481617:33,902,978C/G—uncertain significance
rs77680609217:33,902,982A/G—uncertain significance
rs214222898217:33,902,986T/A—pathogenic
rs207278239717:33,902,989G/A—uncertain significance
rs76842703517:33,902,991A/C—pathogenic
rs77441524317:33,902,992A/C—uncertain significance
rs214222900217:33,902,993G/C—likely benign
rs76159083417:33,902,995G/C—uncertain significance
rs214222901717:33,902,996G/A—likely benign
rs214222903517:33,903,004C/T—uncertain significance
rs74985928717:33,903,009T/G—uncertain significance
rs13872062717:33,903,014G/A—benign
rs214222905117:33,903,017T/C—likely benign
rs207278268417:33,903,020G/A—likely benign
rs214222906117:33,903,021T/A—uncertain significance
rs207278270017:33,903,024A/G—uncertain significance
rs76618281317:33,903,025C/T—uncertain significance
rs214222907217:33,903,028G/A—likely pathogenic
rs159792240117:33,903,032T/C—likely benign
rs75352702717:33,903,034G/A—uncertain significance
rs250916803717:33,903,035T/C—likely benign
rs250916804317:33,903,036G/A—uncertain significance
rs127917562517:33,903,037G/C—uncertain significance

Showing 100 of 391 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.