ADAMTSL2

ADAMTS like 2

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]

Known Variants270 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs62576051	9:136,397,026	C/T	—	—
rs9696458	9:136,398,985	C/G	—	—
rs9696477	9:136,399,315	C/T	intron variant	—
rs1432091144	9:136,400,041	T/C	—	uncertain significance
rs11525182	9:136,401,425	G/A	—	benign
rs79091755	9:136,401,444	C/T	—	likely benign
rs11507717	9:136,401,606	C/A	—	benign
rs199857142	9:136,401,688	C/G	—	uncertain significance
rs1830058692	9:136,401,745	G/C	—	uncertain significance
rs200378599	9:136,401,845	G/C	—	uncertain significance
rs145897018	9:136,401,892	G/A	—	conflicting classifications of pathogenicity
rs776273406	9:136,401,915	C/T	—	uncertain significance
rs62637569	9:136,401,922	A/G	—	likely benign
rs28569945	9:136,402,067	G/T	—	benign
rs11516156	9:136,402,345	T/A	—	benign
rs200940324	9:136,402,522	C/T	—	likely benign
rs201637141	9:136,402,537	C/A	—	uncertain significance
rs141636965	9:136,402,541	A/G	—	likely benign
rs138540101	9:136,402,558	G/C	—	uncertain significance
rs2490847592	9:136,402,593	T/C	—	uncertain significance
rs1478392567	9:136,402,618	G/A	—	uncertain significance
rs387907064	9:136,402,651	G/A	missense variant	pathogenic
rs1408123846	9:136,402,665	C/T	—	likely pathogenic
rs765252396	9:136,402,673	C/T	—	likely benign
rs142660768	9:136,402,860	T/C	intron variant	—
rs775621284	9:136,403,469	A/G	splice region variant	pathogenic
rs200704888	9:136,403,479	C/T	—	uncertain significance
rs749513478	9:136,403,485	C/T	—	uncertain significance
rs777495910	9:136,403,492	C/T	—	uncertain significance
rs376297294	9:136,403,495	G/C	—	conflicting classifications of pathogenicity
rs139661631	9:136,403,509	C/T	—	uncertain significance
rs62637570	9:136,403,516	G/A	—	likely benign
rs377040554	9:136,403,523	C/T	—	uncertain significance
rs13283227	9:136,403,562	G/T	—	benign
rs1858838	9:136,403,754	T/C	—	benign
rs72779238	9:136,404,566	G/A	—	likely benign
rs36138904	9:136,404,662	G/C	—	likely benign
rs3793628	9:136,404,694	T/C	—	benign
rs142720684	9:136,404,723	C/T	—	likely benign
rs9802522	9:136,404,724	A/G	—	benign
rs571169702	9:136,404,883	C/T	—	likely benign
rs147342065	9:136,404,884	G/A	—	likely benign
rs191009072	9:136,404,901	G/A	—	uncertain significance
rs781678847	9:136,404,903	C/T	—	uncertain significance
rs148682132	9:136,404,904	G/A	—	likely benign
rs199663387	9:136,404,908	G/A	—	uncertain significance
rs1166449446	9:136,404,920	C/T	—	likely pathogenic
rs113994122	9:136,404,921	G/T	missense variant	pathogenic
rs113994123	9:136,404,923	G/A	missense variant	pathogenic
rs374608028	9:136,404,935	G/A	—	likely benign
rs142549723	9:136,404,961	C/T	—	likely benign
rs370062294	9:136,404,965	C/T	—	uncertain significance
rs563057495	9:136,404,966	G/A	—	uncertain significance
rs146802900	9:136,404,970	G/A	—	likely benign
rs761328410	9:136,404,975	A/G	—	uncertain significance
rs375029785	9:136,405,005	G/A	—	uncertain significance
rs13302230	9:136,405,042	T/A	—	benign
rs56355857	9:136,405,240	C/G	—	benign
rs117608058	9:136,405,404	G/A	—	likely benign
rs55750924	9:136,405,521	G/A	—	benign
rs115817936	9:136,405,621	A/G	—	likely benign
rs773901514	9:136,405,734	A/G	—	uncertain significance
rs113994121	9:136,405,747	C/T	missense variant	pathogenic
rs372783597	9:136,405,748	G/A	—	uncertain significance
rs776178041	9:136,405,782	C/T	—	uncertain significance
rs759233725	9:136,405,783	G/A	—	uncertain significance
rs1285762406	9:136,405,796	C/T	—	likely benign
rs764516811	9:136,405,800	G/A	—	uncertain significance
rs2131101041	9:136,405,801	C/T	—	uncertain significance
rs752050271	9:136,405,803	C/T	—	likely pathogenic
rs761886575	9:136,405,806	G/A	—	pathogenic
rs756311258	9:136,405,809	G/A	—	likely pathogenic
rs758153700	9:136,405,829	T/C	—	likely benign
rs953298656	9:136,405,836	C/T	—	pathogenic
rs780731869	9:136,405,848	G/A	—	uncertain significance
rs143307161	9:136,405,893	G/A	—	likely benign
rs28504582	9:136,405,965	C/A	—	benign
rs751365777	9:136,406,006	G/A	—	uncertain significance
rs779683932	9:136,406,020	G/A	—	likely benign
rs202153053	9:136,406,091	C/T	—	uncertain significance
rs148191166	9:136,406,092	G/A	—	uncertain significance
rs387907065	9:136,406,102	C/T	missense variant	pathogenic
rs199776835	9:136,406,133	A/G	—	uncertain significance
rs368262959	9:136,406,136	G/A	—	uncertain significance
rs28675164	9:136,406,209	T/G	—	benign
rs11516157	9:136,406,758	C/A	—	—
rs9802773	9:136,409,367	T/C	—	benign
rs28435854	9:136,409,404	C/G	—	benign
rs9802732	9:136,409,420	A/G	—	benign
rs9802736	9:136,409,457	A/G	—	benign
rs11522325	9:136,409,529	C/T	—	benign
rs9802778	9:136,409,580	T/G	—	benign
rs142777315	9:136,409,599	T/C	—	uncertain significance
rs754545792	9:136,409,616	C/T	—	uncertain significance
rs146958778	9:136,409,617	G/A	—	uncertain significance
rs778178248	9:136,409,627	C/T	—	likely pathogenic
rs2131111768	9:136,409,634	T/A	—	uncertain significance
rs774653225	9:136,409,660	G/A	—	uncertain significance
rs776668079	9:136,409,679	A/G	—	uncertain significance
rs9330463	9:136,409,854	C/T	—	benign

Showing 100 of 270 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.