IFNGR2

interferon gamma receptor 2

Summary

This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]

Known Variants210 total

rsidPosition (GRCh37)AllelesClassClinVar
rs813414521:34,775,434A/C—benign
rs812675621:34,775,444T/C—benign
rs1788274821:34,775,721T/C—benign
rs131663888321:34,775,850A/G—likely pathogenic
rs77308450821:34,775,857C/G—uncertain significance
rs76242061621:34,775,858G/C—likely benign
rs251691808221:34,775,862C/T—likely benign
rs212332246221:34,775,865C/T—likely benign
rs127526870221:34,775,868T/C—uncertain significance
rs101293861021:34,775,886C/T—conflicting classifications of pathogenicity
rs212332253921:34,775,894C/G—likely benign
rs251691818921:34,775,897C/T—likely benign
rs145034838721:34,775,900C/T—likely benign
rs77393227921:34,775,902C/T—uncertain significance
rs95642742021:34,775,905C/T—uncertain significance
rs117646515221:34,775,907G/A—uncertain significance
rs155587840221:34,775,914C/T—uncertain significance
rs143978551321:34,775,916C/G—uncertain significance
rs251691834121:34,775,929C/T—likely benign
rs76721089521:34,775,930G/T—likely benign
rs251691836121:34,775,931G/C—likely benign
rs99025021221:34,775,932G/T—likely benign
rs57196891721:34,775,938G/A—benign
rs997515521:34,776,152T/G—benign
rs228455321:34,776,695A/T——
rs52824415521:34,780,365C/T——
rs226824121:34,781,050G/Aintron variant—
rs12191319221:34,783,257C/T—not provided
rs12191319321:34,783,522T/C—not provided
rs76230654321:34,787,188C/T—likely benign
rs95858424221:34,787,189C/T—likely benign
rs212333914021:34,787,201T/C—uncertain significance
rs208374303821:34,787,204C/T—uncertain significance
rs54620196421:34,787,211G/A—likely benign
rs75095159221:34,787,212C/T—uncertain significance
rs77224886821:34,787,215G/A—conflicting classifications of pathogenicity
rs251693012021:34,787,221C/G—uncertain significance
rs57278614821:34,787,236C/T—conflicting classifications of pathogenicity
rs75595958221:34,787,237G/A—uncertain significance
rs37645751121:34,787,247C/T—likely benign
rs7504350221:34,787,248G/A—uncertain significance
rs251693020221:34,787,257G/A—uncertain significance
rs36895212621:34,787,260C/T—likely benign
rs74542762821:34,787,274A/T—likely benign
rs212333931521:34,787,287A/G—uncertain significance
rs498695821:34,787,294C/G—benign
rs56256142021:34,787,295G/A—likely benign
rs251693034321:34,787,309A/G—uncertain significance
rs980875321:34,787,312G/A—benign
rs76693152521:34,787,335G/A—likely benign
rs138925026721:34,787,347G/A—likely benign
rs207038621:34,787,638C/A—benign
rs19141988121:34,787,816A/Cintron variant—
rs230037321:34,788,739A/C——
rs12191319421:34,793,151C/T—not provided
rs12191319621:34,793,564A/G—not provided
rs1305149121:34,793,588A/G—benign
rs12191319721:34,793,664G/T—not provided
rs12191319821:34,793,678A/G—not provided
rs283421421:34,793,706C/T—benign
rs12191319921:34,793,707G/A—not provided
rs18727387221:34,793,769T/C—likely benign
rs77972669621:34,793,776T/C—likely benign
rs74645790021:34,793,782C/G—likely benign
rs37733785521:34,793,790C/T—likely benign
rs120824077621:34,793,807C/T—uncertain significance
rs14179162821:34,793,808G/A—likely benign
rs15013784221:34,793,811C/T—benign
rs76004864021:34,793,812G/A—uncertain significance
rs13871731221:34,793,814C/T—benign
rs212334886821:34,793,817C/T—likely benign
rs77557793921:34,793,819T/C—uncertain significance
rs14160992021:34,793,829G/A—likely benign
rs75713976721:34,793,835T/C—likely benign
rs128701231221:34,793,857G/C—uncertain significance
rs251693689721:34,793,859G/A—likely benign
rs75841709821:34,793,865C/T—likely benign
rs37035869521:34,793,874C/T—likely benign
rs55776924821:34,793,875G/A—uncertain significance
rs212334902221:34,793,878A/G—uncertain significance
rs13921298921:34,793,888C/T—uncertain significance
rs14232522921:34,793,892C/T—likely benign
rs75611905721:34,793,899A/G—uncertain significance
rs12191320021:34,793,917C/T—likely benign
rs76078033021:34,793,927G/A—uncertain significance
rs76861228821:34,793,940A/G—likely benign
rs77696719621:34,793,941G/C—uncertain significance
rs251693711121:34,793,954C/A—uncertain significance
rs76195694621:34,793,955C/T—likely benign
rs132030297921:34,793,986C/T—uncertain significance
rs97934416321:34,793,987G/A—uncertain significance
rs20006182621:34,794,002C/T—likely benign
rs283421521:34,796,886A/Gintron variant—
rs12191320121:34,798,881A/C—not provided
rs7840710821:34,798,982G/A—benign
rs12191320221:34,798,994T/C—not provided
rs12191320321:34,799,099T/C—not provided
rs12191320521:34,799,132A/G—not provided
rs12191320721:34,799,166T/C—not provided
rs96859111421:34,799,173T/C—likely benign

Showing 100 of 210 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.