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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886050734	14:74,706,197	G/C	—	uncertain significance
rs565838448	14:74,706,211	G/A	—	uncertain significance
rs115662253	14:74,706,219	G/C	—	likely benign
rs879245861	14:74,706,270	G/C	—	likely benign
rs2504945033	14:74,706,272	G/A	—	uncertain significance
rs1365619857	14:74,706,282	G/A	—	likely benign
rs2079134490	14:74,706,288	G/T	—	likely benign
rs1228326703	14:74,706,306	C/A	—	likely benign
rs894661629	14:74,706,312	A/T	—	likely benign
rs2139628334	14:74,706,315	G/A	—	likely benign
rs542328201	14:74,706,330	G/C	—	likely benign
rs1202074639	14:74,706,333	G/A	—	likely benign
rs1034066804	14:74,706,336	C/T	—	likely benign
rs1176654437	14:74,706,342	G/A	—	likely benign
rs2079135011	14:74,706,348	G/A	—	likely benign
rs1389175061	14:74,706,351	C/A	—	pathogenic
rs558979474	14:74,706,354	T/C	—	likely benign
rs1555387462	14:74,706,355	G/A	—	likely pathogenic
rs528290024	14:74,706,357	G/A	—	likely benign
rs1448149108	14:74,706,360	C/T	—	likely benign
rs1230845124	14:74,706,368	A/G	—	uncertain significance
rs1328835237	14:74,706,369	G/A	—	likely benign
rs747878344	14:74,706,381	C/T	—	likely benign
rs2504945394	14:74,706,390	G/A	—	likely benign
rs2139628420	14:74,706,396	C/G	—	likely benign
rs998945152	14:74,706,398	C/T	—	uncertain significance
rs757604565	14:74,706,399	G/A	—	likely benign
rs1184273664	14:74,706,408	C/T	—	likely benign
rs1170541720	14:74,706,411	G/A	—	likely benign
rs2504945466	14:74,706,412	C/A	—	likely benign
rs2139628459	14:74,706,420	G/T	—	likely benign
rs2504945501	14:74,706,423	C/T	—	likely benign
rs61747367	14:74,706,426	C/A	—	conflicting classifications of pathogenicity
rs1017445127	14:74,706,428	G/A	—	uncertain significance
rs1368230789	14:74,706,429	C/A	—	likely benign
rs1594752524	14:74,706,430	C/T	—	likely benign
rs201395979	14:74,706,435	C/G	—	conflicting classifications of pathogenicity
rs2079136024	14:74,706,437	C/A	—	uncertain significance
rs1277025974	14:74,706,438	C/A	—	likely benign
rs886050736	14:74,706,439	G/A	—	uncertain significance
rs2139628520	14:74,706,441	G/A	—	likely benign
rs2139628528	14:74,706,447	G/A	—	likely benign
rs769885076	14:74,706,448	C/T	—	likely benign
rs1205909190	14:74,706,453	G/T	—	likely benign
rs2139628546	14:74,706,456	G/A	—	likely benign
rs775981376	14:74,706,457	C/T	—	uncertain significance
rs2504945648	14:74,706,459	C/T	—	likely benign
rs1451013793	14:74,706,462	A/G	—	likely benign
rs893692764	14:74,706,465	G/C	—	likely benign
rs929081926	14:74,706,468	C/G	—	likely benign
rs1387865406	14:74,706,474	C/A	—	likely benign
rs763226203	14:74,706,477	G/C	—	likely benign
rs200824722	14:74,706,486	C/T	—	likely benign
rs2079136674	14:74,706,490	A/G	—	uncertain significance
rs753262258	14:74,706,495	G/T	—	likely benign
rs1004021129	14:74,706,504	G/C	—	likely benign
rs375294678	14:74,706,508	G/A	—	conflicting classifications of pathogenicity
rs758201632	14:74,706,510	G/A	—	likely benign
rs751526974	14:74,706,513	G/A	—	conflicting classifications of pathogenicity
rs1392025778	14:74,706,519	T/C	—	likely benign
rs2504945945	14:74,706,528	C/G	—	pathogenic
rs369629867	14:74,706,531	G/A	—	likely benign
rs2504945974	14:74,706,538	A/T	—	uncertain significance
rs1436176298	14:74,706,540	C/A	—	likely benign
rs1285917131	14:74,706,550	G/C	—	uncertain significance
rs1356908006	14:74,706,552	G/T	—	likely benign
rs770121550	14:74,706,558	C/G	—	likely benign
rs2504946059	14:74,706,561	C/T	—	likely benign
rs35214083	14:74,706,563	C/A	—	conflicting classifications of pathogenicity
rs769167146	14:74,706,564	G/A	—	likely benign
rs886050737	14:74,706,570	C/A	—	uncertain significance
rs375237762	14:74,706,572	T/C	—	conflicting classifications of pathogenicity
rs566968640	14:74,706,582	G/A	—	likely benign
rs776267544	14:74,706,585	A/G	—	likely benign
rs758972546	14:74,706,586	T/C	—	likely benign
rs2139628758	14:74,706,591	C/T	—	likely benign
rs752313464	14:74,706,600	G/A	—	conflicting classifications of pathogenicity
rs2504946217	14:74,706,606	G/A	—	likely benign
rs2079137956	14:74,706,610	G/A	—	uncertain significance
rs1594752649	14:74,706,615	C/T	—	likely benign
rs1175738409	14:74,706,624	G/A	—	likely benign
rs2079138244	14:74,706,637	A/G	—	uncertain significance
rs2504946323	14:74,706,643	G/C	—	likely benign
rs1196793036	14:74,706,644	G/A	—	likely benign
rs1370097065	14:74,706,647	A/G	—	likely benign
rs2504946342	14:74,706,649	G/A	—	likely benign
rs563345741	14:74,706,652	G/A	—	likely benign
rs756165578	14:74,706,654	G/C	—	likely benign
rs115164944	14:74,706,935	G/A	—	likely benign
rs112134231	14:74,707,786	G/A	—	likely benign
rs750355273	14:74,707,866	C/T	—	likely benign
rs1264148334	14:74,707,867	C/T	—	likely benign
rs750778630	14:74,707,871	C/T	—	conflicting classifications of pathogenicity
rs1192085431	14:74,707,872	G/T	—	likely benign
rs371396618	14:74,707,873	C/T	—	likely benign
rs1447929423	14:74,707,875	C/T	—	likely benign
rs753951803	14:74,707,876	G/T	—	likely benign
rs398124558	14:74,707,879	T/C	—	uncertain significance
rs1395124261	14:74,707,884	G/A	—	pathogenic
rs2504948495	14:74,707,898	T/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.