ZIC3

Zic family zinc finger 3

Summary

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]

Known Variants113 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12843772	X:136,648,126	C/T	—	benign
rs1022475218	X:136,648,372	C/T	—	uncertain significance
rs933941596	X:136,648,427	C/A	—	uncertain significance
rs181414932	X:136,648,516	C/T	—	uncertain significance
rs1931342053	X:136,648,682	A/C	—	uncertain significance
rs1602742253	X:136,648,868	C/T	—	likely benign
rs763534805	X:136,648,869	G/C	missense variant	pathogenic
rs764613910	X:136,648,876	C/G	—	uncertain significance
rs1327091342	X:136,648,881	T/C	—	uncertain significance
rs1229632913	X:136,648,886	T/C	—	likely benign
rs147232392	X:136,648,899	G/T	missense variant	likely benign
rs868654990	X:136,648,904	C/T	—	likely benign
rs61735157	X:136,648,925	C/G	—	uncertain significance
rs1165286755	X:136,648,926	G/C	—	uncertain significance
rs752686913	X:136,648,942	A/T	—	uncertain significance
rs746833203	X:136,648,947	G/T	—	uncertain significance
rs201398331	X:136,648,948	C/T	—	likely benign
rs1931349869	X:136,648,955	G/A	—	uncertain significance
rs1302645424	X:136,648,966	C/T	—	uncertain significance
rs1569345504	X:136,648,978	C/A	—	pathogenic
rs78870836	X:136,648,981	C/G	—	conflicting classifications of pathogenicity
rs771406033	X:136,648,991	C/T	—	likely benign
rs1241955958	X:136,648,992	G/C	—	uncertain significance
rs1556029767	X:136,649,009	C/T	—	likely benign
rs62637689	X:136,649,012	T/C	—	benign
rs1308128585	X:136,649,077	C/T	—	likely benign
rs960337313	X:136,649,101	C/G	—	uncertain significance
rs1177620943	X:136,649,118	C/T	—	uncertain significance
rs369721947	X:136,649,120	C/T	—	conflicting classifications of pathogenicity
rs1931355457	X:136,649,154	C/G	—	uncertain significance
rs946883685	X:136,649,162	C/T	—	likely benign
rs373628598	X:136,649,176	C/G	—	uncertain significance
rs2521148412	X:136,649,190	T/C	—	uncertain significance
rs1043815068	X:136,649,216	G/A	—	likely benign
rs757117094	X:136,649,247	G/A	—	uncertain significance
rs761546254	X:136,649,270	C/T	—	benign
rs750150672	X:136,649,276	C/T	—	likely benign
rs755825923	X:136,649,279	G/C	—	likely benign
rs1464584985	X:136,649,285	C/G	—	uncertain significance
rs2521148962	X:136,649,311	C/G	—	uncertain significance
rs2521148992	X:136,649,313	G/T	—	pathogenic
rs867186935	X:136,649,319	C/A	—	uncertain significance
rs2521149091	X:136,649,336	T/G	—	uncertain significance
rs1380540154	X:136,649,426	G/C	—	likely benign
rs140823819	X:136,649,457	G/A	—	likely benign
rs779878257	X:136,649,480	C/T	—	likely benign
rs2521149716	X:136,649,481	G/A	—	likely benign
rs104894963	X:136,649,499	C/G	missense variant	uncertain significance
rs1653458762	X:136,649,503	A/G	—	uncertain significance
rs939481931	X:136,649,517	A/G	—	uncertain significance
rs1034877221	X:136,649,518	A/G	—	conflicting classifications of pathogenicity
rs778283887	X:136,649,526	A/C	—	benign
rs377356678	X:136,649,589	A/G	—	likely benign
rs104894960	X:136,649,595	C/T	stop gained	pathogenic
rs1203069392	X:136,649,605	C/A	—	pathogenic
rs122463167	X:136,649,607	T/A	missense variant	pathogenic
rs104894961	X:136,649,608	G/C	missense variant	pathogenic
rs122463168	X:136,649,613	T/G	missense variant	pathogenic
rs886041111	X:136,649,614	G/C	missense variant	pathogenic
rs886038531	X:136,649,633	G/A	—	likely benign
rs122462166	X:136,649,654	C/A	stop gained	pathogenic
rs148567981	X:136,649,682	C/T	—	uncertain significance
rs2521150490	X:136,649,695	T/G	—	uncertain significance
rs61735159	X:136,649,711	G/A	—	benign
rs757814584	X:136,649,720	G/A	—	likely benign
rs1444020526	X:136,649,726	G/C	—	uncertain significance
rs1298851009	X:136,649,732	C/G	—	uncertain significance
rs2521150691	X:136,649,750	G/A	—	likely benign
rs779221820	X:136,649,756	C/T	—	likely benign
rs10126585	X:136,649,762	G/A	—	benign
rs1602743059	X:136,649,808	C/T	—	likely pathogenic
rs122462165	X:136,649,818	C/T	missense variant	pathogenic
rs2521150898	X:136,649,826	A/T	—	pathogenic
rs1266364318	X:136,649,834	C/G	—	uncertain significance
rs1931371643	X:136,649,860	A/G	—	uncertain significance
rs886042663	X:136,649,875	—	—	pathogenic
rs1569345912	X:136,649,900	G/C	—	uncertain significance
rs752354882	X:136,649,919	A/G	—	likely benign
rs370670661	X:136,649,923	A/T	—	benign
rs10856541	X:136,650,934	A/T	—	benign
rs1556030199	X:136,651,069	C/A	—	uncertain significance
rs2521154725	X:136,651,079	G/A	—	likely pathogenic
rs2124185590	X:136,651,107	T/A	—	likely pathogenic
rs1602743868	X:136,651,162	T/G	—	uncertain significance
rs754070677	X:136,651,179	C/T	—	uncertain significance
rs143990850	X:136,651,194	G/T	—	conflicting classifications of pathogenicity
rs1931398768	X:136,651,211	G/T	—	uncertain significance
rs104894962	X:136,651,213	A/G	missense variant	pathogenic
rs2521155163	X:136,651,216	C/T	—	uncertain significance
rs2521155169	X:136,651,217	A/T	—	uncertain significance
rs387906498	X:136,651,222	A/T	stop gained	pathogenic
rs755343529	X:136,652,073	T/G	—	conflicting classifications of pathogenicity
rs2521157470	X:136,652,117	C/T	—	uncertain significance
rs749105833	X:136,652,164	G/A	—	uncertain significance
rs375086818	X:136,652,167	G/A	—	likely benign
rs2521157835	X:136,652,215	G/A	—	uncertain significance
rs370928726	X:136,652,255	T/C	—	conflicting classifications of pathogenicity
rs12387258	X:136,652,270	A/G	—	likely benign
rs1931418607	X:136,652,382	A/G	—	uncertain significance
rs41299098	X:136,652,489	T/C	—	uncertain significance

Showing 100 of 113 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.