TBX18

T-box transcription factor 18

Summary

This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]

Known Variants138 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs117358764	6:85,377,419	T/C	—	likely benign
rs757449466	6:85,446,410	A/G	—	uncertain significance
rs780097355	6:85,446,411	T/C	—	uncertain significance
rs768512752	6:85,446,414	G/A	—	uncertain significance
rs748043014	6:85,446,425	T/C	—	likely pathogenic
rs1773955019	6:85,446,453	G/A	—	likely benign
rs1234323422	6:85,446,486	C/A	—	uncertain significance
rs1272918524	6:85,446,488	C/G	—	uncertain significance
rs764187973	6:85,446,519	G/A	—	uncertain significance
rs2481835908	6:85,446,526	C/G	—	uncertain significance
rs376283250	6:85,446,530	C/T	—	uncertain significance
rs141651641	6:85,446,550	C/T	—	likely benign
rs145316626	6:85,446,566	A/G	—	uncertain significance
rs1203522351	6:85,446,602	G/A	—	uncertain significance
rs1262919821	6:85,446,617	G/C	—	uncertain significance
rs137897063	6:85,446,634	T/A	—	likely benign
rs745436531	6:85,446,649	G/T	—	likely benign
rs760905589	6:85,446,657	G/A	missense variant	pathogenic
rs537759635	6:85,446,669	T/C	—	uncertain significance
rs144185523	6:85,446,671	T/C	—	uncertain significance
rs375591537	6:85,446,681	C/T	—	uncertain significance
rs934251759	6:85,446,701	G/A	—	uncertain significance
rs114400107	6:85,446,703	G/A	—	likely benign
rs994172394	6:85,446,744	G/T	—	uncertain significance
rs1168922829	6:85,446,748	G/A	—	likely benign
rs139629340	6:85,446,757	C/T	—	benign
rs368979451	6:85,446,832	G/A	—	likely benign
rs114499307	6:85,446,837	T/G	—	uncertain significance
rs1461362886	6:85,446,840	T/C	—	uncertain significance
rs535362046	6:85,446,849	C/T	—	uncertain significance
rs956448415	6:85,446,850	G/A	—	likely benign
rs974623808	6:85,446,859	G/A	—	likely benign
rs773526620	6:85,446,863	G/C	—	uncertain significance
rs774472628	6:85,446,874	C/T	—	likely benign
rs561554028	6:85,446,876	G/A	—	uncertain significance
rs1766893332	6:85,446,908	C/G	—	uncertain significance
rs112415001	6:85,446,919	C/T	—	likely benign
rs375063225	6:85,446,938	T/C	—	uncertain significance
rs770214200	6:85,446,941	C/T	—	uncertain significance
rs886041719	6:85,446,942	G/A	stop gained	pathogenic
rs149770046	6:85,446,962	C/T	—	likely benign
rs145891330	6:85,446,984	C/T	—	uncertain significance
rs756673332	6:85,447,019	C/G	—	uncertain significance
rs61733446	6:85,447,025	T/C	—	uncertain significance
rs141017435	6:85,447,077	C/A	—	conflicting classifications of pathogenicity
rs149008570	6:85,447,083	C/T	—	uncertain significance
rs766116934	6:85,447,084	G/A	—	likely benign
rs371637641	6:85,447,109	G/A	—	likely benign
rs1410353165	6:85,447,118	C/G	—	uncertain significance
rs144467216	6:85,447,124	T/C	—	conflicting classifications of pathogenicity
rs111901553	6:85,447,125	T/G	—	likely benign
rs761391	6:85,448,103	T/C	—	benign
rs2481839385	6:85,448,195	C/G	—	likely benign
rs1161206405	6:85,448,234	G/A	—	likely benign
rs750757458	6:85,448,260	G/C	—	uncertain significance
rs187085991	6:85,448,268	C/T	—	uncertain significance
rs1384411524	6:85,448,269	G/A	—	pathogenic
rs2481839565	6:85,448,284	A/C	—	uncertain significance
rs2481839585	6:85,448,295	G/A	—	uncertain significance
rs2481839601	6:85,448,306	C/T	—	uncertain significance
rs858741	6:85,448,565	A/G	—	benign
rs2015518	6:85,453,765	G/C	—	benign
rs2015519	6:85,453,782	T/C	—	benign
rs1305706564	6:85,453,961	G/A	—	likely benign
rs954552612	6:85,453,967	A/G	—	likely benign
rs745807758	6:85,453,990	G/A	—	likely benign
rs1085307514	6:85,454,036	C/T	—	uncertain significance
rs2273096	6:85,454,271	C/G	—	benign
rs780182947	6:85,457,634	A/G	—	uncertain significance
rs200742037	6:85,457,709	C/T	—	benign
rs79618899	6:85,457,739	C/T	—	likely benign
rs187802523	6:85,457,741	T/C	—	uncertain significance
rs200317774	6:85,457,756	C/T	—	uncertain significance
rs115937874	6:85,457,763	C/T	—	likely benign
rs372776015	6:85,457,774	G/A	—	uncertain significance
rs2481851501	6:85,457,789	A/G	—	uncertain significance
rs201539210	6:85,457,809	T/C	—	likely benign
rs215939	6:85,466,286	A/C	—	benign
rs558712179	6:85,466,437	A/G	—	benign
rs1275113895	6:85,466,449	C/T	—	likely benign
rs148004775	6:85,466,461	G/C	—	uncertain significance
rs762412545	6:85,466,525	C/T	—	uncertain significance
rs769177001	6:85,466,529	G/T	—	uncertain significance
rs374437053	6:85,466,550	T/G	—	uncertain significance
rs117602481	6:85,466,607	C/G	—	benign
rs74497017	6:85,469,801	C/T	—	benign
rs2481865380	6:85,469,993	T/A	—	likely benign
rs201041948	6:85,469,998	C/A	—	uncertain significance
rs2481865399	6:85,470,001	T/C	—	uncertain significance
rs750075396	6:85,470,021	T/C	—	uncertain significance
rs545884149	6:85,470,057	A/G	—	uncertain significance
rs756453864	6:85,470,072	C/T	—	uncertain significance
rs1438478275	6:85,470,073	G/T	—	uncertain significance
rs1179250699	6:85,470,077	A/G	—	uncertain significance
rs778007857	6:85,470,088	C/T	—	likely benign
rs74671789	6:85,470,100	G/C	—	benign
rs78065813	6:85,470,124	T/A	—	benign
rs199910592	6:85,472,245	G/C	—	benign
rs114255455	6:85,472,267	G/A	—	benign
rs797045022	6:85,472,272	T/C	missense variant	pathogenic

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.