GATAD2B

GATA zinc finger domain containing 2B

Summary

This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]

Known Variants439 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs140136091	1:153,769,011	C/T	—	likely benign
rs59883467	1:153,772,035	G/A	—	benign
rs192301738	1:153,772,147	C/T	—	likely benign
rs567570674	1:153,772,148	G/A	—	likely benign
rs767747401	1:153,772,281	G/T	—	likely benign
rs555198334	1:153,772,347	G/T	—	likely benign
rs879718449	1:153,772,348	T/C	—	likely benign
rs149115596	1:153,772,466	G/A	—	benign
rs148087091	1:153,772,726	G/A	—	likely benign
rs1127091	1:153,779,412	A/G	downstream gene variant	—
rs35036680	1:153,782,011	C/T	3 prime UTR variant	—
rs1674245097	1:153,782,655	A/G	—	likely pathogenic
rs1263254401	1:153,782,656	T/C	—	uncertain significance
rs751706057	1:153,782,668	G/A	—	likely benign
rs878916634	1:153,782,670	T/C	—	uncertain significance
rs2525228612	1:153,782,672	G/C	—	uncertain significance
rs368022295	1:153,782,677	C/T	—	likely benign
rs2525228645	1:153,782,678	G/A	—	uncertain significance
rs372276373	1:153,782,682	T/C	—	conflicting classifications of pathogenicity
rs377116665	1:153,782,687	C/T	—	uncertain significance
rs754224625	1:153,782,706	A/G	—	likely benign
rs372258374	1:153,782,724	G/A	—	uncertain significance
rs1215780997	1:153,782,733	A/C	—	uncertain significance
rs780009907	1:153,782,749	T/C	—	uncertain significance
rs748051214	1:153,782,754	C/T	—	uncertain significance
rs756036459	1:153,782,755	G/A	—	likely benign
rs777657976	1:153,782,758	G/A	—	likely benign
rs2525228929	1:153,782,766	T/G	—	uncertain significance
rs749141299	1:153,782,774	G/C	—	conflicting classifications of pathogenicity
rs2101873600	1:153,782,790	G/T	—	likely benign
rs375027033	1:153,782,838	T/C	—	likely benign
rs114840453	1:153,783,077	C/T	—	benign
rs12136094	1:153,784,029	G/C	—	benign
rs112979659	1:153,784,094	C/T	—	likely benign
rs2525232549	1:153,784,206	C/T	—	uncertain significance
rs1198920234	1:153,784,215	C/G	—	uncertain significance
rs1258418810	1:153,784,220	G/A	—	likely benign
rs2525232662	1:153,784,231	G/A	—	uncertain significance
rs1324892287	1:153,784,234	C/T	—	uncertain significance
rs765430087	1:153,784,238	C/T	—	likely benign
rs1379029906	1:153,784,241	C/T	—	likely benign
rs2525232709	1:153,784,242	T/C	—	uncertain significance
rs750584540	1:153,784,244	G/C	—	likely benign
rs2525232728	1:153,784,245	G/T	—	uncertain significance
rs2101874920	1:153,784,248	G/A	—	uncertain significance
rs1674300081	1:153,784,249	C/G	—	uncertain significance
rs2101874925	1:153,784,250	C/T	—	likely benign
rs2525232845	1:153,784,255	C/G	—	uncertain significance
rs1674300185	1:153,784,256	A/G	—	likely benign
rs1557778112	1:153,784,259	G/A	—	likely benign
rs894154569	1:153,784,261	T/G	—	uncertain significance
rs1464283910	1:153,784,274	G/A	—	likely benign
rs1674301237	1:153,784,285	T/C	—	uncertain significance
rs2525232931	1:153,784,288	G/A	—	uncertain significance
rs1406271309	1:153,784,289	T/A	—	likely benign
rs1445418917	1:153,784,291	T/C	—	uncertain significance
rs763089701	1:153,784,296	C/T	—	uncertain significance
rs766442642	1:153,784,297	G/A	—	uncertain significance
rs1553187362	1:153,784,318	G/A	—	likely pathogenic
rs2525233072	1:153,784,334	T/A	—	likely benign
rs1198127503	1:153,784,335	G/A	—	likely benign
rs2101875033	1:153,784,340	G/A	—	likely benign
rs778858637	1:153,784,344	G/C	—	likely benign
rs574345181	1:153,784,484	A/G	—	benign
rs1464912518	1:153,784,494	T/C	—	uncertain significance
rs377502166	1:153,784,502	C/T	—	uncertain significance
rs2525233863	1:153,784,506	G/C	—	uncertain significance
rs753763024	1:153,784,507	C/T	—	likely benign
rs778803201	1:153,784,508	G/A	—	uncertain significance
rs750238916	1:153,784,510	A/C	—	uncertain significance
rs2525233982	1:153,784,524	T/C	—	uncertain significance
rs758041584	1:153,784,525	G/A	—	likely benign
rs2525233995	1:153,784,526	G/C	—	uncertain significance
rs538420657	1:153,784,544	C/T	—	uncertain significance
rs2101875237	1:153,784,546	G/A	—	likely benign
rs2525234117	1:153,784,549	C/T	—	likely benign
rs1674310975	1:153,784,553	G/A	—	uncertain significance
rs145131801	1:153,784,559	A/G	—	likely benign
rs763266883	1:153,784,561	C/T	—	conflicting classifications of pathogenicity
rs531641324	1:153,784,567	G/C	—	likely benign
rs1230061825	1:153,784,569	G/A	—	uncertain significance
rs1674312498	1:153,784,570	G/A	—	likely benign
rs767666551	1:153,784,573	G/A	—	likely benign
rs1315030750	1:153,784,581	C/T	—	uncertain significance
rs1674312870	1:153,784,582	C/A	—	likely pathogenic
rs946006593	1:153,784,584	G/A	—	pathogenic
rs2525234382	1:153,784,587	G/A	—	likely pathogenic
rs1674313030	1:153,784,590	G/A	—	pathogenic
rs1674313137	1:153,784,591	T/C	—	likely benign
rs143241566	1:153,784,595	C/T	—	uncertain significance
rs761820222	1:153,784,596	G/T	synonymous variant	likely benign
rs765131928	1:153,784,597	C/T	—	likely benign
rs1553187443	1:153,784,599	G/A	—	pathogenic
rs1553187446	1:153,784,602	C/A	—	pathogenic
rs2525234463	1:153,784,612	T/A	—	uncertain significance
rs2525234479	1:153,784,614	G/A	—	likely benign
rs2525234521	1:153,784,624	A/C	—	likely benign
rs2525234530	1:153,784,626	A/G	—	likely benign
rs2525234542	1:153,784,628	C/A	—	likely benign
rs73013795	1:153,784,861	G/C	—	benign

Showing 100 of 439 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.