MSX1

msh homeobox 1

Summary

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]

Known Variants105 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3821947	4:4,860,138	A/G	regulatory region variant	—
rs3821949	4:4,860,402	G/T	—	—
rs78448576	4:4,861,123	G/C	—	benign
rs80120240	4:4,861,136	T/G	—	benign
rs186861426	4:4,861,609	G/A	regulatory region variant	benign
rs530919363	4:4,861,620	G/T	—	likely benign
rs1445547684	4:4,861,625	G/A	—	uncertain significance
rs766466650	4:4,861,684	G/A	—	uncertain significance
rs755151662	4:4,861,691	G/A	—	likely benign
rs567549350	4:4,861,703	G/C	—	likely benign
rs530217423	4:4,861,712	C/T	—	benign
rs1414674827	4:4,861,715	G/C	—	uncertain significance
rs1306079473	4:4,861,720	G/T	—	uncertain significance
rs771408025	4:4,861,721	C/T	—	likely benign
rs1737867949	4:4,861,726	A/G	—	uncertain significance
rs1349964186	4:4,861,728	C/G	—	uncertain significance
rs1226714798	4:4,861,729	G/A	—	uncertain significance
rs1346030752	4:4,861,732	G/A	—	likely benign
rs547137864	4:4,861,734	C/A	—	likely benign
rs36059701	4:4,861,745	C/G	—	benign
rs1001828551	4:4,861,749	C/A	—	likely benign
rs565664559	4:4,861,753	A/C	—	benign
rs1737868931	4:4,861,756	G/A	—	uncertain significance
rs994158401	4:4,861,777	A/G	—	likely benign
rs771658240	4:4,861,821	G/A	—	likely benign
rs1450940679	4:4,861,822	C/A	—	uncertain significance
rs121913130	4:4,861,826	T/A	missense variant	pathogenic
rs201156596	4:4,861,844	C/T	—	likely benign
rs537984383	4:4,861,849	G/C	—	uncertain significance
rs1340433273	4:4,861,869	G/A	—	likely benign
rs1248813501	4:4,861,871	C/T	—	uncertain significance
rs1464389153	4:4,861,876	G/T	—	likely pathogenic
rs28928890	4:4,861,877	A/T	missense variant	pathogenic
rs759475915	4:4,861,886	A/G	—	benign
rs2108777701	4:4,861,906	C/T	—	pathogenic
rs758616631	4:4,861,913	T/C	—	uncertain significance
rs757688467	4:4,861,923	G/C	—	benign
rs768005654	4:4,861,936	G/C	—	uncertain significance
rs771740327	4:4,861,948	G/A	—	uncertain significance
rs574606351	4:4,861,950	G/T	—	likely benign
rs104893852	4:4,861,958	C/A	stop gained	pathogenic
rs34165410	4:4,861,974	C/T	—	benign
rs765128034	4:4,861,987	G/T	—	uncertain significance
rs28933081	4:4,861,991	G/A	missense variant	pathogenic
rs764296833	4:4,861,997	T/A	—	uncertain significance
rs1737882553	4:4,862,012	A/T	—	uncertain significance
rs2108777772	4:4,862,047	G/A	—	uncertain significance
rs1249758312	4:4,862,052	G/A	—	likely benign
rs764174177	4:4,862,057	C/G	—	uncertain significance
rs774512352	4:4,862,064	G/A	—	uncertain significance
rs104893854	4:4,862,084	C/A	missense variant	pathogenic
rs545651715	4:4,862,087	C/T	—	uncertain significance
rs2108777804	4:4,862,100	G/A	—	pathogenic
rs7660910	4:4,862,314	G/A	—	benign
rs3111690	4:4,862,327	A/T	—	benign
rs3775261	4:4,863,745	C/G	—	—
rs10014077	4:4,864,230	A/G	—	benign
rs10213148	4:4,864,276	G/A	—	benign
rs10000804	4:4,864,299	G/A	—	benign
rs33946149	4:4,864,301	A/C	—	benign
rs1042484	4:4,864,381	G/A	—	benign
rs1369129367	4:4,864,419	G/A	—	uncertain significance
rs150284621	4:4,864,429	G/T	—	conflicting classifications of pathogenicity
rs1374050033	4:4,864,443	C/G	—	uncertain significance
rs1737945911	4:4,864,446	C/G	—	uncertain significance
rs2474113889	4:4,864,458	G/A	—	uncertain significance
rs779513496	4:4,864,477	T/C	—	likely benign
rs1737946881	4:4,864,484	C/A	—	likely benign
rs2474113914	4:4,864,485	G/A	—	uncertain significance
rs549162057	4:4,864,502	G/A	—	uncertain significance
rs370243708	4:4,864,503	C/T	—	uncertain significance
rs140353960	4:4,864,504	G/A	—	likely benign
rs2474113971	4:4,864,505	C/T	—	likely pathogenic
rs1737947469	4:4,864,515	C/T	—	uncertain significance
rs149960650	4:4,864,519	G/A	—	likely benign
rs104893850	4:4,864,535	C/T	stop gained	pathogenic
rs149092063	4:4,864,539	A/G	—	uncertain significance
rs1346748006	4:4,864,557	C/T	—	uncertain significance
rs121913129	4:4,864,563	G/C	missense variant	pathogenic
rs1435101199	4:4,864,567	G/C	—	likely benign
rs104893853	4:4,864,581	C/A	stop gained	pathogenic
rs369820958	4:4,864,582	G/T	—	likely benign
rs143068777	4:4,864,587	G/A	—	likely benign
rs756333968	4:4,864,599	C/T	—	uncertain significance
rs2474114083	4:4,864,608	A/G	—	uncertain significance
rs1737950162	4:4,864,613	T/C	—	conflicting classifications of pathogenicity
rs1553878162	4:4,864,619	C/T	—	pathogenic
rs1342784720	4:4,864,628	C/T	—	uncertain significance
rs2474114114	4:4,864,640	A/G	—	uncertain significance
rs2474114133	4:4,864,655	G/C	—	uncertain significance
rs761710147	4:4,864,697	C/T	—	pathogenic
rs1313821191	4:4,864,701	C/G	—	uncertain significance
rs1211011383	4:4,864,727	C/G	—	uncertain significance
rs535538923	4:4,864,736	C/A	—	likely benign
rs1459531026	4:4,864,740	C/G	—	uncertain significance
rs747563297	4:4,864,745	G/C	—	uncertain significance
rs376516578	4:4,864,754	G/A	—	uncertain significance
rs184700656	4:4,864,775	G/A	—	conflicting classifications of pathogenicity
rs62636562	4:4,864,779	C/T	—	likely benign
rs771885867	4:4,864,808	C/T	—	uncertain significance

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.