ADAM9

ADAM metallopeptidase domain 9

Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]

Known Variants436 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs376347476	8:38,854,565	C/G	—	uncertain significance
rs769951936	8:38,854,587	G/A	—	uncertain significance
rs764765877	8:38,854,590	C/G	—	uncertain significance
rs775495452	8:38,854,597	G/A	—	likely benign
rs1456294342	8:38,854,604	C/T	—	uncertain significance
rs373033544	8:38,854,609	G/A	—	likely benign
rs761188130	8:38,854,610	G/T	—	uncertain significance
rs764821640	8:38,854,611	G/A	—	uncertain significance
rs2491909727	8:38,854,626	G/C	—	uncertain significance
rs758941052	8:38,854,627	G/T	—	likely benign
rs1474625148	8:38,854,638	T/G	—	uncertain significance
rs2491909876	8:38,854,643	G/C	—	uncertain significance
rs1215114252	8:38,854,653	G/A	—	uncertain significance
rs374274112	8:38,854,658	G/C	—	uncertain significance
rs148707472	8:38,854,660	C/A	—	benign
rs530146456	8:38,854,663	C/T	—	likely benign
rs745797513	8:38,854,674	G/A	—	uncertain significance
rs772194829	8:38,854,678	A/G	—	uncertain significance
rs775579747	8:38,854,683	G/T	—	uncertain significance
rs543712046	8:38,854,689	C/G	—	likely benign
rs2491955165	8:38,865,412	A/G	—	likely benign
rs768310031	8:38,865,422	C/T	—	uncertain significance
rs769540240	8:38,865,445	A/G	—	uncertain significance
rs2491955388	8:38,865,487	G/A	—	likely benign
rs1588324383	8:38,865,507	G/A	—	uncertain significance
rs756449902	8:38,865,510	A/G	—	likely benign
rs369891020	8:38,865,511	T/A	—	likely benign
rs757363143	8:38,865,521	G/T	—	likely benign
rs1194862598	8:38,869,162	C/T	—	likely benign
rs1176877216	8:38,869,169	G/A	—	likely benign
rs1057518208	8:38,869,176	G/A	—	pathogenic
rs773918513	8:38,869,177	G/A	—	uncertain significance
rs775867251	8:38,869,186	G/C	—	uncertain significance
rs2129432463	8:38,869,187	T/G	—	uncertain significance
rs61753672	8:38,869,207	G/A	—	likely benign
rs906588804	8:38,869,209	G/C	—	uncertain significance
rs765400681	8:38,869,211	A/G	—	uncertain significance
rs750570805	8:38,869,212	T/C	—	likely benign
rs767418357	8:38,869,217	T/C	—	uncertain significance
rs2491964775	8:38,869,236	G/A	—	likely pathogenic
rs7840044	8:38,871,325	T/G	—	benign
rs2491969658	8:38,871,464	G/A	—	likely benign
rs2491969692	8:38,871,475	C/G	—	likely benign
rs2129432776	8:38,871,478	T/C	—	likely benign
rs2491969723	8:38,871,485	G/A	—	uncertain significance
rs2491969807	8:38,871,498	A/G	—	uncertain significance
rs146980702	8:38,871,509	G/A	—	conflicting classifications of pathogenicity
rs757052065	8:38,871,521	A/C	—	uncertain significance
rs201485493	8:38,871,522	A/G	—	uncertain significance
rs1290408637	8:38,871,528	A/T	—	uncertain significance
rs2491969950	8:38,871,539	A/G	—	uncertain significance
rs771587211	8:38,871,544	T/G	—	conflicting classifications of pathogenicity
rs2129432784	8:38,871,546	A/G	—	uncertain significance
rs2491969983	8:38,871,549	A/G	—	uncertain significance
rs777287822	8:38,871,552	C/T	—	uncertain significance
rs550158378	8:38,871,555	A/G	—	uncertain significance
rs1214320550	8:38,871,556	T/C	—	likely benign
rs770307880	8:38,871,557	A/G	—	uncertain significance
rs1205752233	8:38,871,578	C/T	—	likely benign
rs1391031721	8:38,873,631	A/G	—	likely benign
rs1434106744	8:38,873,632	T/C	—	likely benign
rs1301198724	8:38,873,641	A/G	—	uncertain significance
rs753966173	8:38,873,652	C/T	—	uncertain significance
rs1240471168	8:38,873,653	G/T	—	uncertain significance
rs376349029	8:38,873,659	A/G	—	uncertain significance
rs571073007	8:38,873,666	G/A	—	likely benign
rs142011701	8:38,873,678	T/G	—	uncertain significance
rs2491976073	8:38,873,693	T/C	—	likely benign
rs538588121	8:38,873,696	C/T	—	likely benign
rs761792735	8:38,873,697	G/T	—	uncertain significance
rs1188975716	8:38,873,702	T/A	—	pathogenic
rs1248836796	8:38,873,705	T/C	—	likely benign
rs765025969	8:38,873,711	C/A	—	likely benign
rs1836520723	8:38,873,729	T/A	—	likely benign
rs2491976295	8:38,873,730	A/G	—	likely benign
rs771842708	8:38,874,719	C/T	—	likely benign
rs768812089	8:38,874,720	G/A	—	likely benign
rs371032333	8:38,874,722	G/A	—	likely benign
rs786205086	8:38,874,730	A/G	—	pathogenic
rs770847465	8:38,874,749	A/T	—	uncertain significance
rs768450851	8:38,874,761	C/A	—	uncertain significance
rs1025113566	8:38,874,762	G/T	—	uncertain significance
rs2129433171	8:38,874,778	C/A	—	uncertain significance
rs1332483199	8:38,874,793	T/C	—	uncertain significance
rs2491979900	8:38,874,796	C/T	—	uncertain significance
rs767216866	8:38,874,810	C/G	—	uncertain significance
rs893648734	8:38,874,811	A/G	—	uncertain significance
rs137853041	8:38,874,817	C/T	stop gained	pathogenic
rs760058275	8:38,874,818	G/A	—	uncertain significance
rs2491980100	8:38,874,825	T/C	—	likely benign
rs886062922	8:38,874,831	C/T	—	conflicting classifications of pathogenicity
rs886062923	8:38,874,833	A/G	—	uncertain significance
rs367887367	8:38,874,840	G/C	—	uncertain significance
rs186443262	8:38,874,867	G/A	—	conflicting classifications of pathogenicity
rs1410343531	8:38,874,868	G/C	—	uncertain significance
rs750724868	8:38,874,869	A/G	—	uncertain significance
rs1836568496	8:38,874,875	A/G	—	uncertain significance
rs2129433187	8:38,874,885	T/C	—	likely benign
rs2129433189	8:38,874,889	A/G	—	uncertain significance
rs780209541	8:38,874,892	G/C	—	uncertain significance

Showing 100 of 436 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.