VSX2

visual system homeobox 2

Summary

This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]

Known Variants354 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605073414:74,706,197G/C—uncertain significance
rs56583844814:74,706,211G/A—uncertain significance
rs11566225314:74,706,219G/C—likely benign
rs87924586114:74,706,270G/C—likely benign
rs250494503314:74,706,272G/A—uncertain significance
rs136561985714:74,706,282G/A—likely benign
rs207913449014:74,706,288G/T—likely benign
rs122832670314:74,706,306C/A—likely benign
rs89466162914:74,706,312A/T—likely benign
rs213962833414:74,706,315G/A—likely benign
rs54232820114:74,706,330G/C—likely benign
rs120207463914:74,706,333G/A—likely benign
rs103406680414:74,706,336C/T—likely benign
rs117665443714:74,706,342G/A—likely benign
rs207913501114:74,706,348G/A—likely benign
rs138917506114:74,706,351C/A—pathogenic
rs55897947414:74,706,354T/C—likely benign
rs155538746214:74,706,355G/A—likely pathogenic
rs52829002414:74,706,357G/A—likely benign
rs144814910814:74,706,360C/T—likely benign
rs123084512414:74,706,368A/G—uncertain significance
rs132883523714:74,706,369G/A—likely benign
rs74787834414:74,706,381C/T—likely benign
rs250494539414:74,706,390G/A—likely benign
rs213962842014:74,706,396C/G—likely benign
rs99894515214:74,706,398C/T—uncertain significance
rs75760456514:74,706,399G/A—likely benign
rs118427366414:74,706,408C/T—likely benign
rs117054172014:74,706,411G/A—likely benign
rs250494546614:74,706,412C/A—likely benign
rs213962845914:74,706,420G/T—likely benign
rs250494550114:74,706,423C/T—likely benign
rs6174736714:74,706,426C/A—conflicting classifications of pathogenicity
rs101744512714:74,706,428G/A—uncertain significance
rs136823078914:74,706,429C/A—likely benign
rs159475252414:74,706,430C/T—likely benign
rs20139597914:74,706,435C/G—conflicting classifications of pathogenicity
rs207913602414:74,706,437C/A—uncertain significance
rs127702597414:74,706,438C/A—likely benign
rs88605073614:74,706,439G/A—uncertain significance
rs213962852014:74,706,441G/A—likely benign
rs213962852814:74,706,447G/A—likely benign
rs76988507614:74,706,448C/T—likely benign
rs120590919014:74,706,453G/T—likely benign
rs213962854614:74,706,456G/A—likely benign
rs77598137614:74,706,457C/T—uncertain significance
rs250494564814:74,706,459C/T—likely benign
rs145101379314:74,706,462A/G—likely benign
rs89369276414:74,706,465G/C—likely benign
rs92908192614:74,706,468C/G—likely benign
rs138786540614:74,706,474C/A—likely benign
rs76322620314:74,706,477G/C—likely benign
rs20082472214:74,706,486C/T—likely benign
rs207913667414:74,706,490A/G—uncertain significance
rs75326225814:74,706,495G/T—likely benign
rs100402112914:74,706,504G/C—likely benign
rs37529467814:74,706,508G/A—conflicting classifications of pathogenicity
rs75820163214:74,706,510G/A—likely benign
rs75152697414:74,706,513G/A—conflicting classifications of pathogenicity
rs139202577814:74,706,519T/C—likely benign
rs250494594514:74,706,528C/G—pathogenic
rs36962986714:74,706,531G/A—likely benign
rs250494597414:74,706,538A/T—uncertain significance
rs143617629814:74,706,540C/A—likely benign
rs128591713114:74,706,550G/C—uncertain significance
rs135690800614:74,706,552G/T—likely benign
rs77012155014:74,706,558C/G—likely benign
rs250494605914:74,706,561C/T—likely benign
rs3521408314:74,706,563C/A—conflicting classifications of pathogenicity
rs76916714614:74,706,564G/A—likely benign
rs88605073714:74,706,570C/A—uncertain significance
rs37523776214:74,706,572T/C—conflicting classifications of pathogenicity
rs56696864014:74,706,582G/A—likely benign
rs77626754414:74,706,585A/G—likely benign
rs75897254614:74,706,586T/C—likely benign
rs213962875814:74,706,591C/T—likely benign
rs75231346414:74,706,600G/A—conflicting classifications of pathogenicity
rs250494621714:74,706,606G/A—likely benign
rs207913795614:74,706,610G/A—uncertain significance
rs159475264914:74,706,615C/T—likely benign
rs117573840914:74,706,624G/A—likely benign
rs207913824414:74,706,637A/G—uncertain significance
rs250494632314:74,706,643G/C—likely benign
rs119679303614:74,706,644G/A—likely benign
rs137009706514:74,706,647A/G—likely benign
rs250494634214:74,706,649G/A—likely benign
rs56334574114:74,706,652G/A—likely benign
rs75616557814:74,706,654G/C—likely benign
rs11516494414:74,706,935G/A—likely benign
rs11213423114:74,707,786G/A—likely benign
rs75035527314:74,707,866C/T—likely benign
rs126414833414:74,707,867C/T—likely benign
rs75077863014:74,707,871C/T—conflicting classifications of pathogenicity
rs119208543114:74,707,872G/T—likely benign
rs37139661814:74,707,873C/T—likely benign
rs144792942314:74,707,875C/T—likely benign
rs75395180314:74,707,876G/T—likely benign
rs39812455814:74,707,879T/C—uncertain significance
rs139512426114:74,707,884G/A—pathogenic
rs250494849514:74,707,898T/A—likely benign

Showing 100 of 354 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

VSX2 — visual system homeobox 2