SLC16A12

solute carrier family 16 member 12

Summary

This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]

Known Variants72 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11262994610:91,192,636G/T—likely benign
rs7791376910:91,192,659A/T—benign
rs15127578810:91,192,830G/T—uncertain significance
rs76458053410:91,192,853C/T—uncertain significance
rs77548040410:91,192,886T/C—uncertain significance
rs148101906910:91,192,891A/C—uncertain significance
rs100443688010:91,192,931T/G—uncertain significance
rs76905713910:91,192,974C/T—uncertain significance
rs249606521110:91,193,020A/G—uncertain significance
rs20191570710:91,193,054T/G—uncertain significance
rs20047676610:91,193,081G/A—likely benign
rs709034610:91,193,322T/C—benign
rs74843274610:91,195,875C/T—likely benign
rs249607631510:91,195,886A/G—likely benign
rs14536250110:91,195,888G/C—likely benign
rs14232988910:91,195,976C/T—uncertain significance
rs229731210:91,196,202C/T—benign
rs789610610:91,196,402T/G—benign
rs56338714510:91,198,351T/C—likely benign
rs125457073410:91,198,367T/C—uncertain significance
rs75886064610:91,198,397A/G—uncertain significance
rs14801335310:91,198,419T/G—uncertain significance
rs145314649910:91,198,443G/C—uncertain significance
rs249609000510:91,198,445T/G—uncertain significance
rs20139092810:91,198,496C/T—uncertain significance
rs14596433710:91,198,527C/T—conflicting classifications of pathogenicity
rs249609087310:91,198,552G/C—likely benign
rs249609097610:91,198,563T/C—uncertain significance
rs77370671210:91,198,631G/A—uncertain significance
rs75553711310:91,198,638G/A—uncertain significance
rs135626633710:91,198,643A/G—uncertain significance
rs12190938610:91,198,656G/Astop gainedpathogenic
rs13855295010:91,198,671G/A—uncertain significance
rs37613181310:91,198,737A/T—uncertain significance
rs184185630910:91,198,769A/G—uncertain significance
rs75840495510:91,198,779G/A—uncertain significance
rs78017919810:91,198,780C/A—uncertain significance
rs19244199310:91,198,855G/A—likely benign
rs14152146710:91,198,877C/T—uncertain significance
rs75150154210:91,198,911C/G—uncertain significance
rs15080068810:91,198,917A/G—conflicting classifications of pathogenicity
rs249609441410:91,198,935C/T—uncertain significance
rs20069548710:91,198,946G/A—benign
rs7923539410:91,200,711T/C—benign
rs19032339510:91,200,906G/A—uncertain significance
rs78620546010:91,200,909G/Amissense variantpathogenic
rs74944185310:91,201,017A/G—uncertain significance
rs709440510:91,201,106T/G—benign
rs791815910:91,201,269G/T—benign
rs155661110:91,203,214G/A—benign
rs7618777110:91,203,478G/T—likely benign
rs76176973510:91,203,556C/T—likely benign
rs37583302110:91,203,557G/A—uncertain significance
rs55163276310:91,203,564C/T—conflicting classifications of pathogenicity
rs13917630010:91,203,565G/A—likely benign
rs15040387310:91,203,625T/C—likely benign
rs184195595710:91,203,632C/T—likely benign
rs709491910:91,203,892G/T—benign
rs139249262810:91,222,156G/T—likely benign
rs57736997410:91,222,177A/G—likely benign
rs123529178110:91,222,214G/T—uncertain significance
rs125036979610:91,222,223C/T—uncertain significance
rs75084852510:91,222,236C/T—uncertain significance
rs14400375410:91,222,239T/C—benign
rs374003010:91,222,287A/Cmissense variantbenign
rs184231945910:91,222,296T/C—uncertain significance
rs11383023110:91,267,794C/Aintron variant—
rs11128878010:91,267,801T/Cintron variant—
rs11230721410:91,268,921T/Gintron variant—
rs11220415610:91,278,458T/Aintron variant—
rs11752464610:91,278,750A/G——
rs790260310:91,311,071A/Gintron variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.