LHX4

LIM homeobox 4

Summary

This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]

Known Variants144 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs532307461	1:180,199,444	G/A	—	uncertain significance
rs376657735	1:180,199,493	A/G	—	uncertain significance
rs565557892	1:180,199,531	G/C	—	uncertain significance
rs547988090	1:180,199,544	T/G	—	uncertain significance
rs355625	1:180,199,545	C/T	—	benign
rs1664150962	1:180,199,665	A/G	—	uncertain significance
rs146664099	1:180,199,701	G/A	—	conflicting classifications of pathogenicity
rs759346232	1:180,199,714	C/T	—	uncertain significance
rs75857235	1:180,199,727	T/C	—	benign
rs761497347	1:180,199,749	C/G	—	likely benign
rs57664116	1:180,217,136	G/A	—	benign
rs61809133	1:180,217,152	T/C	—	benign
rs61809134	1:180,217,192	C/A	—	benign
rs4652490	1:180,217,250	C/T	—	benign
rs149914490	1:180,217,400	C/A	—	benign
rs2528185029	1:180,217,418	A/G	—	likely pathogenic
rs886045597	1:180,217,426	C/T	—	uncertain significance
rs147491286	1:180,217,433	C/G	—	uncertain significance
rs145933198	1:180,217,434	G/A	—	uncertain significance
rs577657094	1:180,217,466	C/T	—	likely benign
rs368995644	1:180,217,489	A/G	—	conflicting classifications of pathogenicity
rs2149256469	1:180,217,511	G/A	—	likely benign
rs2149256470	1:180,217,514	T/G	—	likely pathogenic
rs143798020	1:180,217,538	G/A	—	likely benign
rs2528185362	1:180,217,557	G/A	—	uncertain significance
rs749318884	1:180,217,566	G/A	—	likely benign
rs2528185487	1:180,217,582	A/G	—	uncertain significance
rs115032096	1:180,217,603	C/T	—	likely benign
rs375232367	1:180,217,604	G/A	—	uncertain significance
rs35619850	1:180,217,656	A/G	—	benign
rs3911334	1:180,217,791	C/T	—	benign
rs138437382	1:180,227,182	C/T	intron variant	—
rs71630257	1:180,227,829	C/T	intron variant	—
rs3845396	1:180,234,977	C/G	downstream gene variant	—
rs7538065	1:180,235,407	G/A	—	benign
rs121912642	1:180,235,528	C/T	missense variant	pathogenic
rs374124070	1:180,235,529	G/A	—	uncertain significance
rs367664877	1:180,235,533	C/T	—	likely benign
rs773975101	1:180,235,547	C/G	—	uncertain significance
rs767622575	1:180,235,548	G/A	—	likely benign
rs1156273617	1:180,235,578	G/C	—	uncertain significance
rs755505959	1:180,235,585	C/T	—	uncertain significance
rs750416597	1:180,235,586	G/A	—	uncertain significance
rs2528230038	1:180,235,609	C/T	—	uncertain significance
rs1553282666	1:180,235,637	G/A	—	uncertain significance
rs374435549	1:180,235,642	C/T	—	uncertain significance
rs368906861	1:180,235,643	G/A	—	uncertain significance
rs2528230233	1:180,235,652	C/T	—	uncertain significance
rs751665904	1:180,235,656	G/A	—	conflicting classifications of pathogenicity
rs141139762	1:180,235,662	T/C	—	likely benign
rs150875319	1:180,235,663	G/A	—	benign
rs371899398	1:180,235,676	T/C	—	likely benign
rs376426884	1:180,235,683	C/T	—	likely benign
rs766579345	1:180,235,684	G/A	—	uncertain significance
rs1648323639	1:180,235,711	G/A	—	uncertain significance
rs16855642	1:180,235,728	C/T	—	benign
rs748773452	1:180,235,729	G/C	—	uncertain significance
rs1558220685	1:180,235,737	G/C	—	likely benign
rs886045598	1:180,235,744	C/T	—	uncertain significance
rs2764449	1:180,240,510	T/C	—	benign
rs1648646755	1:180,240,519	C/G	—	uncertain significance
rs746041842	1:180,240,527	C/T	—	uncertain significance
rs1228372845	1:180,240,538	C/T	—	uncertain significance
rs1558224110	1:180,240,545	G/A	—	uncertain significance
rs183432227	1:180,240,549	C/A	—	uncertain significance
rs762313842	1:180,240,561	C/T	—	likely benign
rs1648658489	1:180,240,665	T/C	—	uncertain significance
rs1553283805	1:180,240,673	A/G	—	uncertain significance
rs3845397	1:180,240,752	C/T	—	benign
rs768889373	1:180,240,953	T/C	—	likely benign
rs748268631	1:180,240,969	G/C	—	pathogenic
rs201275928	1:180,240,971	T/G	—	likely benign
rs2149266749	1:180,240,984	C/G	—	uncertain significance
rs777063568	1:180,240,986	G/A	—	uncertain significance
rs1235455418	1:180,240,987	A/C	—	uncertain significance
rs761455183	1:180,241,015	G/A	—	uncertain significance
rs756081757	1:180,241,024	C/T	—	uncertain significance
rs754434517	1:180,241,030	C/T	—	uncertain significance
rs758543485	1:180,241,046	A/G	—	uncertain significance
rs777917804	1:180,241,052	G/A	—	uncertain significance
rs111822893	1:180,241,053	C/T	—	likely benign
rs1309542359	1:180,241,054	G/A	—	uncertain significance
rs771488709	1:180,241,057	A/G	—	uncertain significance
rs765008063	1:180,241,067	G/A	—	conflicting classifications of pathogenicity
rs2528252491	1:180,241,100	C/T	—	uncertain significance
rs766381404	1:180,241,103	A/T	—	uncertain significance
rs2528252541	1:180,241,106	A/T	—	uncertain significance
rs565803862	1:180,241,137	C/T	—	likely benign
rs747140246	1:180,241,138	C/G	—	uncertain significance
rs375216188	1:180,241,139	G/A	—	conflicting classifications of pathogenicity
rs994001572	1:180,241,150	G/A	—	uncertain significance
rs3806302	1:180,241,155	G/T	—	benign
rs774795540	1:180,243,325	C/T	—	likely pathogenic
rs771603042	1:180,243,346	C/A	—	conflicting classifications of pathogenicity
rs140444641	1:180,243,363	T/A	—	uncertain significance
rs139155359	1:180,243,369	C/T	—	likely benign
rs1648882066	1:180,243,377	A/G	—	uncertain significance
rs150931176	1:180,243,378	C/T	—	conflicting classifications of pathogenicity
rs139479246	1:180,243,387	C/A	—	likely benign
rs761944467	1:180,243,388	G/A	—	uncertain significance

Showing 100 of 144 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.