EFEMP2

EGF-like fibulin extracellular matrix protein 2

Summary

A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

Known Variants418 total

rsidPosition (GRCh37)AllelesClassClinVar
rs63030311:65,631,973G/A—benign
rs55811411:65,632,262G/T—benign
rs7754003311:65,633,986G/C—benign
rs88604850411:65,634,084G/A—uncertain significance
rs57239442911:65,634,107G/A—conflicting classifications of pathogenicity
rs148644957111:65,634,142T/G—uncertain significance
rs156527175311:65,634,207T/C—uncertain significance
rs76294545911:65,634,215C/T—uncertain significance
rs18768663011:65,634,274C/T—conflicting classifications of pathogenicity
rs139537132511:65,634,369G/A—likely benign
rs88604850511:65,634,386T/C—uncertain significance
rs55272129111:65,634,396G/T—uncertain significance
rs119461727711:65,634,398G/A—likely benign
rs159106462511:65,634,410A/C—uncertain significance
rs77422881811:65,634,415C/T—uncertain significance
rs126019300111:65,634,416G/A—likely benign
rs185985909611:65,634,419G/A—likely benign
rs53521192711:65,634,432G/T—uncertain significance
rs156527201411:65,634,438G/A—uncertain significance
rs76699579611:65,634,441C/T—uncertain significance
rs105654595511:65,634,442G/A—uncertain significance
rs185986062211:65,634,470C/G—uncertain significance
rs74863528611:65,634,473C/T—likely benign
rs249556986611:65,634,485C/T—likely benign
rs14687967311:65,634,487C/G—uncertain significance
rs249556989611:65,634,493C/G—uncertain significance
rs6189386711:65,634,495C/T—uncertain significance
rs77432518911:65,634,496G/A—uncertain significance
rs76708380111:65,634,500G/T—likely benign
rs185986181111:65,634,501C/A—uncertain significance
rs77271552711:65,634,503C/T—likely benign
rs37229911911:65,634,504G/A—uncertain significance
rs185986218011:65,634,508C/G—uncertain significance
rs14830254611:65,634,509C/T—likely benign
rs75339303911:65,634,510G/A—uncertain significance
rs75541130311:65,634,511G/T—uncertain significance
rs76568426811:65,634,514G/T—likely benign
rs185986275111:65,634,517C/T—uncertain significance
rs37495095711:65,634,518G/A—likely benign
rs249557007311:65,634,529T/G—uncertain significance
rs249557008211:65,634,531G/C—uncertain significance
rs19330286811:65,634,532C/Tmissense variantpathogenic
rs223447311:65,634,533G/A—conflicting classifications of pathogenicity
rs249557010911:65,634,537A/G—uncertain significance
rs54356715611:65,634,538C/T—uncertain significance
rs146607698311:65,634,539G/A—likely benign
rs249557014011:65,634,545G/T—likely benign
rs185986390311:65,634,559C/T—likely benign
rs54369763411:65,634,569G/A—likely benign
rs1182043611:65,634,763C/G—benign
rs53752766011:65,634,870C/T—likely benign
rs20014699111:65,635,315G/A—likely benign
rs213474646711:65,635,319G/A—likely benign
rs74796180411:65,635,320C/T—likely benign
rs93474370311:65,635,321A/G—likely benign
rs77181510911:65,635,329T/C—uncertain significance
rs185988479211:65,635,331C/T—pathogenic
rs249557232111:65,635,335A/G—likely benign
rs121965931811:65,635,337T/G—uncertain significance
rs249557233011:65,635,340A/G—uncertain significance
rs185988497211:65,635,341A/G—likely benign
rs77780663611:65,635,346C/G—uncertain significance
rs249557236011:65,635,349C/T—uncertain significance
rs148550078811:65,635,353C/T—likely benign
rs125636272011:65,635,362A/T—likely benign
rs156527266211:65,635,379C/G—uncertain significance
rs129479761011:65,635,391C/T—uncertain significance
rs14618052711:65,635,392G/T—uncertain significance
rs37348510911:65,635,397A/G—uncertain significance
rs11235569111:65,635,401G/A—likely benign
rs249557247311:65,635,403A/G—uncertain significance
rs36962707211:65,635,407C/T—likely benign
rs76800497211:65,635,408G/A—uncertain significance
rs75614134611:65,635,410C/T—likely benign
rs37399348311:65,635,419G/A—likely benign
rs249557252311:65,635,422C/T—likely benign
rs75403052511:65,635,424C/T—uncertain significance
rs75824004511:65,635,425G/A—likely benign
rs95362466711:65,635,430C/T—uncertain significance
rs74675149711:65,635,431G/A—likely benign
rs37764614311:65,635,437G/T—uncertain significance
rs13821046711:65,635,441C/T—uncertain significance
rs74893194511:65,635,442G/A—uncertain significance
rs76912720011:65,635,446C/T—likely benign
rs14282682711:65,635,447G/A—uncertain significance
rs76793575711:65,635,459A/T—uncertain significance
rs76078649011:65,635,465C/T—uncertain significance
rs147582507411:65,635,466G/A—uncertain significance
rs223447111:65,635,476G/A—likely benign
rs249557268211:65,635,478A/G—uncertain significance
rs249557268711:65,635,480G/A—uncertain significance
rs75411852611:65,635,486T/A—uncertain significance
rs213474694211:65,635,488C/T—likely benign
rs213474695411:65,635,491T/C—likely benign
rs75519714811:65,635,492C/T—uncertain significance
rs5768560311:65,635,493G/A—likely pathogenic
rs132127424511:65,635,496A/G—uncertain significance
rs76544256011:65,635,499G/A—likely benign
rs146385564611:65,635,503G/A—likely benign
rs6174038111:65,635,512C/T—conflicting classifications of pathogenicity

Showing 100 of 418 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.