COL6A2

collagen type VI alpha 2 chain

Summary

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,585 total

rsidPosition (GRCh37)AllelesClassClinVar
rs227781621:47,517,869A/T—benign
rs56569823921:47,518,039T/C—uncertain significance
rs105752201221:47,518,072G/T—likely benign
rs227781721:47,518,186T/C—benign
rs11410244821:47,523,605G/Aintron variant—
rs11271066821:47,531,099G/T—benign
rs997765421:47,531,121C/A—benign
rs1305082821:47,531,215C/T—benign
rs7774549021:47,531,256G/C—likely benign
rs11534249021:47,531,275G/A—benign
rs128852098321:47,531,361C/G—likely pathogenic
rs75727900921:47,531,385G/A—uncertain significance
rs207839713421:47,531,393G/A—uncertain significance
rs251698820621:47,531,395T/C—uncertain significance
rs56873067221:47,531,402C/T—likely benign
rs88604316021:47,531,404C/T—uncertain significance
rs207839728921:47,531,406T/A—uncertain significance
rs76048139521:47,531,411C/T—likely benign
rs19247617821:47,531,412G/A—conflicting classifications of pathogenicity
rs120157101421:47,531,417C/T—likely benign
rs132269580721:47,531,419T/G—uncertain significance
rs76556880121:47,531,423C/G—likely benign
rs19990243821:47,531,444C/G—uncertain significance
rs207839815321:47,531,448G/A—uncertain significance
rs75163210821:47,531,452A/G—uncertain significance
rs212361281621:47,531,463G/A—uncertain significance
rs207839844721:47,531,465C/T—likely benign
rs15005702621:47,531,470C/T—conflicting classifications of pathogenicity
rs11163954021:47,531,471G/A—likely benign
rs77008959221:47,531,472C/T—uncertain significance
rs77854614121:47,531,473C/G—uncertain significance
rs14089004621:47,531,474G/A—conflicting classifications of pathogenicity
rs95377891521:47,531,483C/T—likely benign
rs54764829221:47,531,484G/T—likely pathogenic
rs207839908721:47,531,492C/T—likely benign
rs251698840621:47,531,495C/A—uncertain significance
rs98639387221:47,531,501C/A—likely pathogenic
rs207839916821:47,531,502C/T—uncertain significance
rs77084237421:47,531,507T/C—pathogenic
rs88604288221:47,531,511A/G—uncertain significance
rs20079723321:47,531,515G/T—conflicting classifications of pathogenicity
rs53433739621:47,531,517C/T—likely benign
rs55909728621:47,531,518G/A—likely benign
rs143559475521:47,531,521G/A—likely benign
rs57712683421:47,531,522G/A—likely benign
rs75734396421:47,531,524C/T—likely benign
rs76792573121:47,531,525G/A—likely benign
rs11715431321:47,531,859G/A—likely benign
rs251698901221:47,531,879C/G—likely benign
rs88605716621:47,531,882G/A—uncertain significance
rs135960841021:47,531,885C/T—likely benign
rs77457842921:47,531,886C/T—uncertain significance
rs76180556521:47,531,887C/T—conflicting classifications of pathogenicity
rs76759783121:47,531,890C/T—uncertain significance
rs72750282521:47,531,895A/Gmissense variant—
rs251698904921:47,531,896A/C—uncertain significance
rs20002568221:47,531,897G/A—likely benign
rs76684053621:47,531,900C/T—conflicting classifications of pathogenicity
rs75426986921:47,531,901G/T—uncertain significance
rs75532400121:47,531,906C/T—likely benign
rs212361414421:47,531,909C/T—likely benign
rs14473584421:47,531,913C/T—uncertain significance
rs20175354921:47,531,915C/T—likely benign
rs37017196721:47,531,916G/A—conflicting classifications of pathogenicity
rs212361417721:47,531,917T/C—uncertain significance
rs78080335121:47,531,920A/T—uncertain significance
rs72750282621:47,531,925G/A—uncertain significance
rs212361420021:47,531,927G/T—likely benign
rs251698913821:47,531,930G/A—uncertain significance
rs251698914621:47,531,932A/G—uncertain significance
rs212361421821:47,531,936C/G—likely benign
rs125251569321:47,531,938C/T—uncertain significance
rs78012383921:47,531,939G/A—conflicting classifications of pathogenicity
rs155587131121:47,531,944G/A—uncertain significance
rs74910647021:47,531,945C/T—likely benign
rs76843425621:47,531,946G/A—conflicting classifications of pathogenicity
rs207840632121:47,531,951C/G—likely benign
rs91445092321:47,531,952A/C—uncertain significance
rs88604322521:47,531,953T/C—conflicting classifications of pathogenicity
rs14789252621:47,531,956A/C—uncertain significance
rs99073347321:47,531,958T/C—uncertain significance
rs76205016621:47,531,963C/A—likely benign
rs20109489221:47,531,965C/T—conflicting classifications of pathogenicity
rs14358343321:47,531,966G/A—conflicting classifications of pathogenicity
rs20105511321:47,531,973C/T—likely benign
rs207840673021:47,531,976C/T—uncertain significance
rs160121691021:47,531,978C/T—conflicting classifications of pathogenicity
rs76693044721:47,531,979T/C—uncertain significance
rs207840685621:47,531,982C/T—uncertain significance
rs75427574621:47,531,984C/T—likely benign
rs37433666921:47,531,996C/T—conflicting classifications of pathogenicity
rs78070052021:47,531,998T/C—uncertain significance
rs75000901221:47,532,001C/T—uncertain significance
rs14367845421:47,532,002G/T—conflicting classifications of pathogenicity
rs19973674921:47,532,006T/C—uncertain significance
rs251698934821:47,532,008C/A—uncertain significance
rs88604144721:47,532,021C/Tstop gainedpathogenic
rs15103252921:47,532,026C/T—likely benign
rs93212994721:47,532,027G/A—uncertain significance
rs251698941121:47,532,039G/A—uncertain significance

Showing 100 of 1,585 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.