CPAMD8

C3 and PZP like alpha-2-macroglobulin domain containing 8

Summary

This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]

Known Variants432 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77390119:17,003,789T/G—benign
rs18210923619:17,003,939T/C—likely benign
rs37245386219:17,003,990C/T—likely benign
rs251265051219:17,003,998G/A—likely benign
rs18674860119:17,004,032C/A—uncertain significance
rs19313333019:17,004,034C/T—uncertain significance
rs76850196519:17,004,041T/C—uncertain significance
rs105453319:17,004,049T/C—benign
rs205182992919:17,004,056C/T—uncertain significance
rs20103413919:17,004,116C/T—uncertain significance
rs55800463019:17,004,119T/C—uncertain significance
rs36792602619:17,004,134G/A—uncertain significance
rs222736719:17,006,787G/A—benign
rs222736819:17,006,947A/C—benign
rs143265313919:17,007,030C/T—uncertain significance
rs20119539119:17,007,064C/T—benign
rs37118639119:17,007,071G/C—likely benign
rs251267658019:17,007,078G/A—uncertain significance
rs37288513219:17,007,107G/A—uncertain significance
rs18809767519:17,007,150G/A—benign
rs119512226919:17,007,157G/A—likely benign
rs1041819519:17,007,363C/T—benign
rs37348163619:17,007,376C/G—benign
rs13866996919:17,007,378T/G—benign
rs88986673519:17,007,390C/T—uncertain significance
rs100873497119:17,007,398T/A—uncertain significance
rs146682021719:17,007,456C/T—uncertain significance
rs99436785619:17,007,469G/C—uncertain significance
rs135469031419:17,008,563G/A—likely benign
rs260873219:17,008,578C/G—benign
rs14404898219:17,008,607C/G—likely benign
rs11414661919:17,008,621C/A—benign
rs76071294419:17,008,709A/G—uncertain significance
rs19954965919:17,008,728T/A—likely benign
rs20070556419:17,008,796G/C—conflicting classifications of pathogenicity
rs18572161519:17,008,810G/A—benign
rs76561004219:17,008,814C/T—likely benign
rs75343846019:17,010,309G/A—likely pathogenic
rs11218320819:17,010,366G/A—benign
rs6012283719:17,011,860G/T—benign
rs54386777719:17,012,010G/A—benign
rs37364409519:17,012,034C/T—uncertain significance
rs251272180019:17,012,083A/T—uncertain significance
rs251273059019:17,013,449G/A—likely benign
rs14593734419:17,013,484T/C—benign
rs135981764119:17,013,494G/C—uncertain significance
rs74821059519:17,013,524G/A—likely benign
rs19988318619:17,013,546C/T—benign
rs37011068819:17,013,572C/A—uncertain significance
rs20086239319:17,013,581C/T—likely benign
rs20014269519:17,013,582G/A—uncertain significance
rs251273304819:17,013,597T/C—uncertain significance
rs116292337319:17,013,606T/C—uncertain significance
rs37043052719:17,013,616C/T—uncertain significance
rs53643018819:17,013,624T/C—uncertain significance
rs20161370219:17,013,655C/A—conflicting classifications of pathogenicity
rs13988506719:17,013,686G/A—benign
rs11210219219:17,014,361A/C—benign
rs14479849019:17,014,386G/A—benign
rs36985868819:17,014,434C/Tsplice region variantpathogenic
rs14855115319:17,014,505C/T—benign
rs251274060119:17,014,510A/C—likely pathogenic
rs76843098819:17,014,516G/T—uncertain significance
rs19246805519:17,014,536G/A—likely benign
rs77699079019:17,014,553C/T—uncertain significance
rs78010217619:17,014,595C/G—uncertain significance
rs15110416919:17,014,658C/T—likely benign
rs76726677019:17,014,659G/A—likely benign
rs20044120219:17,014,676G/A—likely benign
rs7976986819:17,014,718T/C—benign
rs1041925119:17,014,742A/C—benign
rs77386419:17,014,871G/A—benign
rs56506278119:17,015,067C/T—uncertain significance
rs105751934019:17,015,077A/Gmissense variantpathogenic
rs251274961419:17,015,081C/A—uncertain significance
rs19991682819:17,015,166G/A—uncertain significance
rs14465845219:17,015,288C/A—uncertain significance
rs76668882419:17,015,324C/T—likely benign
rs37358590919:17,015,341A/G—uncertain significance
rs251275284019:17,015,371A/C—likely benign
rs725945019:17,015,420C/G—benign
rs77386319:17,015,428A/G—benign
rs7996507519:17,015,499A/G—benign
rs122483181119:17,016,392A/G—uncertain significance
rs77076108219:17,017,765G/A—pathogenic
rs86902523119:17,017,774C/T—uncertain significance
rs20004834419:17,017,811C/T—likely benign
rs74697169519:17,017,818C/T—uncertain significance
rs77567790219:17,017,833G/A—likely benign
rs251277255619:17,017,861G/A—uncertain significance
rs5640844419:17,017,878A/G—benign
rs122454559519:17,017,902G/A—uncertain significance
rs11764299519:17,018,091C/G—benign
rs77385719:17,018,852C/Tdownstream gene variant—
rs18618326119:17,025,222T/C—benign
rs77717521019:17,025,234C/G—uncertain significance
rs20110929419:17,025,273G/A—likely benign
rs75609458219:17,025,286G/A—uncertain significance
rs70676119:17,025,292G/A—benign
rs36779477419:17,025,296C/T—uncertain significance

Showing 100 of 432 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.