CARMIL2

capping protein regulator and myosin 1 linker 2

Summary

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

Known Variants842 total

rsidPosition (GRCh37)AllelesClassClinVar
rs254352715416:67,679,155C/T—likely benign
rs254352718916:67,679,159A/C—uncertain significance
rs76256031316:67,679,164C/T—likely benign
rs15024009016:67,679,165G/A—uncertain significance
rs126182398016:67,679,167C/A—uncertain significance
rs116912314216:67,679,177T/G—uncertain significance
rs127454275116:67,679,183C/T—uncertain significance
rs214290599416:67,679,184T/C—uncertain significance
rs53436226416:67,679,186C/T—pathogenic
rs55283200716:67,679,201C/G—likely benign
rs75628037716:67,679,202C/T—likely benign
rs57114228016:67,679,206C/T—likely benign
rs7359757816:67,679,348T/C—benign
rs93330428616:67,679,438C/G—likely benign
rs144584021916:67,679,444C/T—uncertain significance
rs116358148516:67,679,456G/A—likely benign
rs130790672816:67,679,495C/T—likely benign
rs143577889616:67,679,499C/T—likely benign
rs75403893516:67,679,505G/C—uncertain significance
rs77881885216:67,679,507G/A—likely benign
rs124186369916:67,679,510G/C—uncertain significance
rs37031587316:67,679,517G/A—uncertain significance
rs75708888516:67,679,524A/G—uncertain significance
rs19951399916:67,679,527A/G—uncertain significance
rs20195753216:67,679,532C/G—uncertain significance
rs133854890916:67,679,543C/T—likely benign
rs77701292316:67,679,611G/A—likely benign
rs254352968616:67,679,615G/A—likely benign
rs76551068816:67,679,618T/C—likely benign
rs57672451116:67,679,637G/A—uncertain significance
rs156762602316:67,679,643G/C—likely pathogenic
rs75615841716:67,679,645G/T—uncertain significance
rs103575305716:67,679,653G/A—likely benign
rs77863118516:67,679,657C/T—uncertain significance
rs128182416316:67,679,659C/T—likely benign
rs74782086116:67,679,661C/T—uncertain significance
rs214290793116:67,679,673C/A—uncertain significance
rs77159543916:67,679,674G/A—likely benign
rs74747558116:67,679,679G/T—uncertain significance
rs254353008816:67,679,687C/G—likely benign
rs77145110916:67,679,689C/T—likely benign
rs7359758016:67,679,879G/A—benign
rs54831138116:67,679,931C/T—uncertain significance
rs37219871216:67,679,932G/A—likely benign
rs254353140916:67,679,948G/A—uncertain significance
rs76198800716:67,679,954G/A—uncertain significance
rs214290887916:67,679,960G/A—uncertain significance
rs56054688516:67,679,961C/T—uncertain significance
rs76504285816:67,679,962G/A—likely benign
rs77740799416:67,679,976C/T—uncertain significance
rs254353163116:67,679,990C/T—likely benign
rs116857939016:67,680,074G/A—likely benign
rs214290946116:67,680,087A/G—likely pathogenic
rs214290946816:67,680,089G/A—uncertain significance
rs254353214416:67,680,101C/T—likely benign
rs103170352316:67,680,105A/T—uncertain significance
rs97194502016:67,680,106G/A—likely benign
rs78042503116:67,680,109C/T—likely benign
rs74987258816:67,680,113C/T—uncertain significance
rs77946681816:67,680,114G/A—uncertain significance
rs74834753616:67,680,122G/C—uncertain significance
rs77328707016:67,680,133T/C—likely benign
rs52782149716:67,680,136T/C—likely benign
rs37643543516:67,680,145C/T—likely benign
rs77528035516:67,680,146G/A—uncertain significance
rs254353241216:67,680,162C/G—uncertain significance
rs36921670116:67,680,169C/T—likely benign
rs77416560516:67,680,170G/A—uncertain significance
rs205259171416:67,680,182A/T—uncertain significance
rs76140321516:67,680,186A/T—uncertain significance
rs37250065816:67,680,190G/A—likely benign
rs103755297216:67,680,191G/T—uncertain significance
rs214291003116:67,680,193C/T—likely benign
rs254353262716:67,680,194T/C—uncertain significance
rs20189863416:67,680,198C/T—uncertain significance
rs75557210216:67,680,201G/C—uncertain significance
rs75212821816:67,680,204C/T—uncertain significance
rs20106661116:67,680,205G/A—benign
rs214291020216:67,680,219G/T—uncertain significance
rs37112288916:67,680,220C/G—uncertain significance
rs77937971216:67,680,225C/T—uncertain significance
rs37767755816:67,680,231C/T—likely benign
rs75862870316:67,680,232G/A—likely benign
rs131848443216:67,680,310C/G—likely benign
rs214291056616:67,680,311T/A—likely benign
rs36795978916:67,680,321C/T—likely benign
rs37183098716:67,680,335A/G—likely benign
rs75753468916:67,680,340G/A—uncertain significance
rs76999172616:67,680,360A/G—uncertain significance
rs254353357516:67,680,366G/T—uncertain significance
rs77881594016:67,680,369C/T—uncertain significance
rs20161999016:67,680,370G/A—uncertain significance
rs129357815716:67,680,383C/G—uncertain significance
rs77621558516:67,680,393G/C—uncertain significance
rs56868254816:67,680,400C/G—benign
rs53622258316:67,680,403A/G—uncertain significance
rs214291115516:67,680,417T/C—uncertain significance
rs167751087116:67,680,437A/G—likely benign
rs205260042216:67,680,599C/T—likely benign
rs102661572316:67,680,604A/G—likely benign

Showing 100 of 842 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.