MEGF10

multiple EGF like domains 10

Summary

This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]

Known Variants929 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs561850839	5:126,583,154	A/C	—	—
rs13178512	5:126,593,205	T/C	upstream gene variant	—
rs79754856	5:126,620,821	C/T	intergenic variant	—
rs7733373	5:126,624,400	A/T	upstream gene variant	—
rs573108245	5:126,626,470	C/A	—	uncertain significance
rs746325634	5:126,626,548	G/T	—	uncertain significance
rs886059860	5:126,626,570	T/C	—	uncertain significance
rs146523995	5:126,626,615	A/G	—	uncertain significance
rs2032834	5:126,626,645	G/A	—	benign
rs886059861	5:126,626,671	A/C	—	uncertain significance
rs1345662	5:126,635,667	G/C	—	benign
rs573144174	5:126,635,675	A/T	—	likely benign
rs1057522065	5:126,635,681	A/G	—	likely benign
rs79967765	5:126,635,691	A/G	—	likely benign
rs559140741	5:126,635,725	C/T	—	likely benign
rs752797617	5:126,635,744	T/G	—	uncertain significance
rs80220399	5:126,666,804	A/G	—	likely benign
rs138523651	5:126,666,972	C/T	—	conflicting classifications of pathogenicity
rs4620069	5:126,666,994	G/A	—	likely benign
rs2479403911	5:126,667,003	G/T	—	uncertain significance
rs1193782268	5:126,667,015	G/A	—	likely benign
rs767314049	5:126,667,019	T/C	—	uncertain significance
rs918917288	5:126,667,042	A/G	—	likely benign
rs145733370	5:126,667,050	G/A	—	conflicting classifications of pathogenicity
rs1258252287	5:126,667,051	C/T	—	likely benign
rs748919606	5:126,667,059	T/C	—	conflicting classifications of pathogenicity
rs1315751467	5:126,667,066	A/G	—	likely benign
rs754729105	5:126,667,068	C/A	—	uncertain significance
rs1580723407	5:126,667,081	T/C	—	likely benign
rs1761253902	5:126,667,088	G/C	—	uncertain significance
rs140458094	5:126,667,090	C/T	—	likely benign
rs1204696743	5:126,667,099	G/A	—	likely benign
rs1561575721	5:126,667,116	G/C	—	uncertain significance
rs10519949	5:126,667,126	T/C	—	benign
rs775584154	5:126,667,128	G/C	—	likely benign
rs1443798498	5:126,667,132	G/T	—	likely benign
rs774584050	5:126,667,136	C/A	—	likely benign
rs17684438	5:126,667,268	G/A	—	likely benign
rs27782	5:126,674,613	A/G	—	benign
rs79417344	5:126,674,640	C/T	—	likely benign
rs965709177	5:126,674,799	C/G	—	uncertain significance
rs1270693777	5:126,674,800	A/C	—	likely benign
rs1232111242	5:126,674,804	C/G	—	likely benign
rs1166247376	5:126,674,809	C/T	—	uncertain significance
rs372038844	5:126,674,815	C/T	—	likely benign
rs768521591	5:126,674,824	T/C	—	likely benign
rs780558660	5:126,674,825	G/A	—	uncertain significance
rs1324494002	5:126,674,842	A/G	—	likely benign
rs1357420963	5:126,674,844	A/G	—	uncertain significance
rs886038703	5:126,674,851	T/C	—	likely benign
rs762153742	5:126,674,852	G/T	—	uncertain significance
rs1761581164	5:126,674,855	C/A	—	uncertain significance
rs1031424124	5:126,674,860	T/A	—	likely benign
rs1418670494	5:126,674,863	C/T	—	likely benign
rs199718339	5:126,674,866	C/T	—	likely benign
rs956880529	5:126,674,868	C/T	—	uncertain significance
rs12654455	5:126,674,869	G/T	—	likely benign
rs1761582460	5:126,674,878	T/C	—	likely benign
rs2479428560	5:126,674,880	A/G	—	uncertain significance
rs2479428605	5:126,674,890	C/G	—	uncertain significance
rs1182966883	5:126,674,892	G/T	—	uncertain significance
rs766379097	5:126,674,904	C/T	—	uncertain significance
rs369231278	5:126,674,905	G/A	—	likely benign
rs387907074	5:126,674,906	C/T	missense variant	pathogenic
rs886059862	5:126,674,907	G/A	—	uncertain significance
rs373947797	5:126,674,918	T/C	—	uncertain significance
rs1279306642	5:126,674,921	A/C	—	likely benign
rs2479428772	5:126,674,924	C/T	—	likely benign
rs2126798252	5:126,674,929	G/A	—	likely benign
rs72786483	5:126,674,930	C/G	—	likely benign
rs145752128	5:126,674,955	G/A	—	likely benign
rs17673170	5:126,675,068	G/A	—	benign
rs57261222	5:126,675,101	G/C	—	benign
rs79602606	5:126,676,192	G/A	—	likely benign
rs1428282010	5:126,676,211	C/T	—	likely benign
rs372782960	5:126,676,215	T/C	—	likely benign
rs376122492	5:126,676,218	A/G	—	likely benign
rs1357482042	5:126,676,219	T/C	—	uncertain significance
rs1362646575	5:126,676,230	A/G	—	uncertain significance
rs752303954	5:126,676,232	C/T	—	uncertain significance
rs1234596293	5:126,676,243	T/G	—	pathogenic
rs1279221790	5:126,676,244	C/T	—	pathogenic
rs763760050	5:126,676,252	G/A	—	likely benign
rs41298304	5:126,676,262	A/G	—	uncertain significance
rs368073107	5:126,676,270	G/T	—	uncertain significance
rs1173217783	5:126,676,271	C/T	—	uncertain significance
rs371481978	5:126,676,276	G/C	—	uncertain significance
rs2479433454	5:126,676,305	G/A	—	likely benign
rs77203884	5:126,676,306	C/T	—	conflicting classifications of pathogenicity
rs200703478	5:126,676,307	G/A	—	conflicting classifications of pathogenicity
rs200163743	5:126,676,322	C/T	—	conflicting classifications of pathogenicity
rs931073338	5:126,676,323	G/C	—	likely pathogenic
rs1241373355	5:126,676,339	C/T	—	likely benign
rs17839697	5:126,676,528	T/C	—	benign
rs17165041	5:126,676,554	G/A	—	benign
rs27388	5:126,683,809	G/C	—	—
rs757606914	5:126,705,582	A/G	—	likely benign
rs1419866519	5:126,705,593	C/G	—	likely benign
rs745615372	5:126,705,602	C/A	—	uncertain significance
rs769476956	5:126,705,604	C/T	—	uncertain significance

Showing 100 of 929 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.