FOXL2

forkhead box L2

Summary

This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]

Known Variants131 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs180829214	3:138,663,815	G/T	—	benign
rs185086382	3:138,663,820	G/A	—	likely benign
rs1935937641	3:138,664,450	G/A	—	uncertain significance
rs143272886	3:138,664,464	G/T	—	benign
rs146709691	3:138,664,494	A/G	—	likely benign
rs2473811202	3:138,664,498	A/G	—	uncertain significance
rs183837821	3:138,664,512	G/A	—	likely benign
rs201840174	3:138,664,520	G/C	—	likely pathogenic
rs2473811434	3:138,664,570	G/A	—	uncertain significance
rs777781753	3:138,664,571	G/C	—	uncertain significance
rs1057516184	3:138,664,583	—	—	pathogenic
rs774457946	3:138,664,591	G/C	—	uncertain significance
rs1935946242	3:138,664,612	G/T	—	uncertain significance
rs964202335	3:138,664,623	G/A	—	likely benign
rs976018810	3:138,664,628	C/T	—	uncertain significance
rs1935947431	3:138,664,631	G/T	—	uncertain significance
rs933696113	3:138,664,657	G/A	—	uncertain significance
rs370950963	3:138,664,707	A/C	—	benign
rs2473812186	3:138,664,724	G/T	—	likely pathogenic
rs765807161	3:138,664,726	G/C	—	uncertain significance
rs759113804	3:138,664,735	A/G	—	uncertain significance
rs104893738	3:138,664,743	G/C	stop gained	pathogenic
rs886038680	3:138,664,746	C/G	—	likely benign
rs1559921973	3:138,664,747	G/T	—	pathogenic
rs755962207	3:138,664,757	C/A	—	uncertain significance
rs1359672712	3:138,664,760	C/T	—	uncertain significance
rs753641620	3:138,664,766	G/T	—	likely benign
rs757195166	3:138,664,774	A/G	—	uncertain significance
rs2107743526	3:138,664,776	G/T	—	likely pathogenic
rs1559922013	3:138,664,781	G/A	—	pathogenic
rs28937885	3:138,664,793	A/T	missense variant	pathogenic
rs113777439	3:138,664,795	G/C	—	uncertain significance
rs374564346	3:138,664,803	C/T	—	benign
rs2473812512	3:138,664,804	G/T	—	pathogenic
rs1935955731	3:138,664,831	A/C	—	uncertain significance
rs759132275	3:138,664,845	G/T	—	benign
rs767088367	3:138,664,847	C/A	—	uncertain significance
rs1935957381	3:138,664,856	C/T	—	uncertain significance
rs1057516172	3:138,664,870	—	—	pathogenic
rs1057516170	3:138,664,876	—	—	pathogenic
rs1057516169	3:138,664,909	T/A	—	uncertain significance
rs104893741	3:138,664,910	G/A	stop gained	pathogenic
rs1935960253	3:138,664,913	A/C	—	uncertain significance
rs797044527	3:138,664,915	G/A	missense variant	pathogenic
rs565208053	3:138,664,918	G/A	—	uncertain significance
rs1057516168	3:138,664,921	T/C	missense variant	pathogenic
rs955582660	3:138,664,929	G/A	—	likely benign
rs750300712	3:138,664,931	G/C	—	uncertain significance
rs1057516167	3:138,664,933	G/T	stop gained	pathogenic
rs1431199619	3:138,664,935	G/A	—	likely benign
rs1057516165	3:138,664,947	—	—	pathogenic
rs758494065	3:138,664,951	G/C	—	benign
rs1057516164	3:138,664,953	C/T	stop gained	pathogenic
rs1246811958	3:138,664,977	C/T	—	benign
rs104893739	3:138,664,979	G/A	stop gained	pathogenic
rs1057516163	3:138,664,983	G/C	stop gained	pathogenic
rs1057516162	3:138,664,987	T/C	—	uncertain significance
rs121908359	3:138,665,005	C/T	missense variant	pathogenic
rs1373284153	3:138,665,012	C/G	—	likely pathogenic
rs1200193326	3:138,665,013	G/A	—	likely benign
rs2107744083	3:138,665,014	T/G	—	uncertain significance
rs1246900936	3:138,665,018	C/T	—	uncertain significance
rs7432551	3:138,665,029	G/C	—	benign
rs560949046	3:138,665,043	G/A	—	benign
rs1935966325	3:138,665,059	G/C	—	uncertain significance
rs61750361	3:138,665,064	G/A	—	benign
rs1060499717	3:138,665,075	T/A	stop gained	pathogenic
rs2107744416	3:138,665,138	A/G	—	uncertain significance
rs2107744454	3:138,665,150	C/A	—	pathogenic
rs1057516160	3:138,665,176	A/G	—	uncertain significance
rs2473814437	3:138,665,177	G/C	—	uncertain significance
rs1559922472	3:138,665,181	C/T	—	pathogenic
rs2107744566	3:138,665,195	T/C	—	likely pathogenic
rs1057516159	3:138,665,225	T/C	missense variant	pathogenic
rs1057516158	3:138,665,227	—	—	pathogenic
rs1057516157	3:138,665,246	T/C	missense variant	pathogenic
rs1057516156	3:138,665,249	G/A	missense variant	pathogenic
rs1057516153	3:138,665,254	T/C	missense variant	pathogenic
rs2473814801	3:138,665,255	G/A	—	likely pathogenic
rs1057516152	3:138,665,257	C/A	—	uncertain significance
rs1057516151	3:138,665,262	G/C	missense variant	pathogenic
rs2107744740	3:138,665,263	C/G	—	uncertain significance
rs1559922528	3:138,665,267	T/C	—	likely pathogenic
rs121908358	3:138,665,270	G/A	stop gained	pathogenic
rs1057516150	3:138,665,272	C/T	stop gained	pathogenic
rs1057516149	3:138,665,273	A/G	missense variant	pathogenic
rs2107744774	3:138,665,282	T/A	—	pathogenic
rs2473814910	3:138,665,297	A/G	—	likely pathogenic
rs1226344391	3:138,665,299	G/C	—	likely pathogenic
rs1559922558	3:138,665,303	A/T	—	likely pathogenic
rs1057516148	3:138,665,309	C/G	—	uncertain significance
rs28937884	3:138,665,314	A/C	missense variant	pathogenic
rs778131069	3:138,665,331	G/A	—	likely benign
rs1057516147	3:138,665,332	G/T	—	uncertain significance
rs1559922577	3:138,665,335	A/G	—	likely pathogenic
rs2107744852	3:138,665,341	A/T	—	uncertain significance
rs2473815051	3:138,665,342	G/A	—	pathogenic
rs2473815062	3:138,665,351	C/A	—	likely pathogenic
rs757571219	3:138,665,354	C/G	—	uncertain significance
rs2107744863	3:138,665,355	G/C	—	uncertain significance

Showing 100 of 131 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.