TREM2

triggering receptor expressed on myeloid cells 2

Summary

This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

Known Variants149 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs541066478	6:41,126,333	C/T	—	likely benign
rs1232354245	6:41,126,345	C/T	—	uncertain significance
rs768583708	6:41,126,346	C/A	—	uncertain significance
rs761884997	6:41,126,354	G/A	—	uncertain significance
rs2532382648	6:41,126,379	G/A	—	uncertain significance
rs2113876718	6:41,126,388	G/A	—	likely benign
rs753777378	6:41,126,391	T/C	—	uncertain significance
rs2113876726	6:41,126,393	G/C	—	uncertain significance
rs530314472	6:41,126,395	C/A	—	conflicting classifications of pathogenicity
rs752403953	6:41,126,397	C/G	—	uncertain significance
rs758041103	6:41,126,400	G/C	—	uncertain significance
rs1391283629	6:41,126,401	C/G	—	uncertain significance
rs181424256	6:41,126,422	T/A	—	likely benign
rs2234258	6:41,126,429	C/T	—	likely benign
rs532556414	6:41,126,432	G/A	—	likely benign
rs2532382819	6:41,126,441	A/G	—	uncertain significance
rs2532382833	6:41,126,449	T/A	—	uncertain significance
rs200820365	6:41,126,454	T/A	—	likely benign
rs776713120	6:41,126,457	T/A	—	uncertain significance
rs376505321	6:41,126,459	C/G	—	uncertain significance
rs75272959	6:41,126,472	C/T	—	benign
rs2532382903	6:41,126,476	T/C	—	uncertain significance
rs1296579106	6:41,126,500	C/T	—	likely benign
rs199795809	6:41,126,505	C/T	—	conflicting classifications of pathogenicity
rs368921728	6:41,126,506	G/A	—	uncertain significance
rs199910080	6:41,126,524	A/G	—	conflicting classifications of pathogenicity
rs747161513	6:41,126,528	T/C	—	likely benign
rs779307957	6:41,126,612	T/C	—	uncertain significance
rs1205300439	6:41,126,613	G/A	—	uncertain significance
rs138355759	6:41,126,619	G/A	—	likely benign
rs1161481912	6:41,126,642	A/C	—	uncertain significance
rs2113877123	6:41,126,652	T/C	—	uncertain significance
rs2234256	6:41,126,655	A/G	—	likely benign
rs1765487522	6:41,126,665	G/C	—	uncertain significance
rs769593356	6:41,126,676	C/T	—	uncertain significance
rs1765488318	6:41,126,693	C/T	—	pathogenic
rs2113877201	6:41,126,709	A/G	—	uncertain significance
rs150277350	6:41,126,713	C/T	—	uncertain significance
rs28937876	6:41,126,729	C/A	missense variant	uncertain significance
rs2532383653	6:41,126,749	C/G	—	uncertain significance
rs1435456359	6:41,126,753	G/T	—	likely benign
rs781302866	6:41,126,773	G/A	—	conflicting classifications of pathogenicity
rs2532383717	6:41,126,774	T/G	—	likely benign
rs138788407	6:41,126,777	G/C	—	uncertain significance
rs769493472	6:41,126,780	G/A	—	likely benign
rs371702633	6:41,126,801	G/C	—	uncertain significance
rs2113877345	6:41,126,805	C/T	—	likely pathogenic
rs768621570	6:41,126,806	T/G	—	likely pathogenic
rs141985285	6:41,126,910	T/C	—	likely benign
rs58443802	6:41,126,956	G/A	—	likely benign
rs748010918	6:41,127,514	A/G	—	likely benign
rs570462504	6:41,127,522	C/T	—	likely benign
rs746496916	6:41,127,523	G/A	—	conflicting classifications of pathogenicity
rs386834144	6:41,127,528	A/G	splice region variant	pathogenic
rs1765513058	6:41,127,541	G/A	—	likely benign
rs2234255	6:41,127,543	G/A	—	likely benign
rs2532385356	6:41,127,549	C/T	—	uncertain significance
rs1232357031	6:41,127,550	A/G	—	likely benign
rs79011726	6:41,127,561	C/T	—	uncertain significance
rs767909449	6:41,127,562	G/A	—	likely benign
rs2532385439	6:41,127,578	C/G	—	uncertain significance
rs766647311	6:41,127,579	C/A	—	uncertain significance
rs754022211	6:41,127,580	G/C	—	likely benign
rs1561877993	6:41,127,581	G/C	—	uncertain significance
rs139397773	6:41,127,583	G/A	—	likely benign
rs778620014	6:41,127,588	A/G	—	uncertain significance
rs747924604	6:41,127,595	T/G	—	likely benign
rs777536241	6:41,127,604	C/A	—	likely benign
rs149622783	6:41,127,605	C/T	—	conflicting classifications of pathogenicity
rs772641807	6:41,127,606	G/A	—	uncertain significance
rs28939079	6:41,127,611	T/C	missense variant	uncertain significance
rs144250872	6:41,127,613	C/A	—	conflicting classifications of pathogenicity
rs1200871894	6:41,127,616	G/C	—	likely benign
rs139607688	6:41,127,619	G/A	—	conflicting classifications of pathogenicity
rs2532385605	6:41,127,622	T/A	—	likely pathogenic
rs1214461566	6:41,127,635	G/C	—	likely benign
rs7748513	6:41,127,972	A/T	—	—
rs899074446	6:41,128,981	G/A	—	likely benign
rs2113879865	6:41,128,987	C/T	—	likely benign
rs121908402	6:41,129,015	A/C	missense variant	pathogenic
rs2532387905	6:41,129,023	C/T	—	likely benign
rs2113879918	6:41,129,027	C/T	—	uncertain significance
rs1765557010	6:41,129,039	G/T	—	uncertain significance
rs2113879950	6:41,129,046	T/A	—	uncertain significance
rs779888024	6:41,129,069	T/C	—	uncertain significance
rs887084330	6:41,129,077	C/T	—	likely benign
rs145080901	6:41,129,078	G/A	—	uncertain significance
rs386834141	6:41,129,079	—	—	pathogenic
rs1173985669	6:41,129,088	G/T	—	uncertain significance
rs147564421	6:41,129,100	G/A	—	uncertain significance
rs2532388137	6:41,129,101	C/T	—	likely benign
rs1311610930	6:41,129,102	A/G	—	uncertain significance
rs562417614	6:41,129,104	C/T	—	likely benign
rs2234253	6:41,129,105	G/A	—	uncertain significance
rs1271841898	6:41,129,123	C/T	—	uncertain significance
rs2532388265	6:41,129,132	T/A	—	uncertain significance
rs142232675	6:41,129,133	C/T	—	conflicting classifications of pathogenicity
rs551003505	6:41,129,134	G/A	—	likely benign
rs368255898	6:41,129,138	G/A	—	uncertain significance
rs104893998	6:41,129,159	C/T	stop gained	pathogenic

Showing 100 of 149 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.