EPS8L2

EPS8 signaling adaptor L2

Summary

This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]

Known Variants264 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10902202	11:709,401	A/G	—	benign
rs202247217	11:709,414	C/A	—	uncertain significance
rs375020679	11:709,420	G/A	—	uncertain significance
rs558489382	11:709,426	G/A	—	conflicting classifications of pathogenicity
rs1861823629	11:709,430	G/A	—	uncertain significance
rs1590045630	11:709,460	T/C	—	likely benign
rs1172646467	11:709,468	A/G	—	likely benign
rs959180926	11:709,563	G/A	—	uncertain significance
rs746324962	11:709,566	C/T	—	uncertain significance
rs12283031	11:709,567	G/A	—	benign
rs781565230	11:709,570	C/T	—	uncertain significance
rs574588438	11:709,571	C/T	—	likely benign
rs184546589	11:709,575	G/A	—	likely benign
rs143833069	11:709,588	T/C	—	uncertain significance
rs553614983	11:709,597	A/G	—	uncertain significance
rs11605783	11:709,680	C/T	—	benign
rs143131969	11:710,310	C/T	upstream gene variant	—
rs138277885	11:710,444	C/T	—	conflicting classifications of pathogenicity
rs1200269060	11:710,451	G/A	—	uncertain significance
rs1479111972	11:710,458	T/G	—	uncertain significance
rs143848078	11:710,484	C/A	—	uncertain significance
rs376112350	11:710,496	C/T	—	likely benign
rs199874167	11:710,503	A/C	—	likely benign
rs7395822	11:710,558	A/G	—	benign
rs7396652	11:710,567	C/A	—	benign
rs112727585	11:719,981	C/G	—	benign
rs369719347	11:720,053	C/T	—	likely benign
rs996892705	11:720,057	C/T	—	likely benign
rs780112279	11:720,080	A/T	—	uncertain significance
rs1481107650	11:720,102	C/T	—	uncertain significance
rs764416603	11:720,112	C/T	—	likely benign
rs750022514	11:720,122	C/T	—	uncertain significance
rs911217612	11:720,137	C/T	—	likely benign
rs2494628953	11:720,151	G/T	—	uncertain significance
rs1195778950	11:720,182	G/T	—	uncertain significance
rs139141867	11:720,187	C/T	—	likely benign
rs3087546	11:720,197	T/C	—	benign
rs150769913	11:720,200	C/T	—	uncertain significance
rs1862118970	11:720,209	G/A	—	uncertain significance
rs2494629199	11:720,210	A/C	—	uncertain significance
rs753332879	11:720,215	G/A	—	uncertain significance
rs2133522803	11:720,242	G/A	—	likely benign
rs1170466083	11:720,591	C/G	—	uncertain significance
rs2494631070	11:720,637	G/A	—	uncertain significance
rs2494631153	11:720,658	T/A	—	uncertain significance
rs371905684	11:720,665	C/T	—	likely benign
rs2494631340	11:720,690	C/T	—	pathogenic
rs757143018	11:720,697	C/T	—	uncertain significance
rs2133524183	11:720,710	G/A	—	likely benign
rs1377255155	11:720,712	C/T	—	uncertain significance
rs2494631585	11:720,729	C/T	—	uncertain significance
rs748168915	11:720,735	G/A	—	uncertain significance
rs909888133	11:720,744	G/A	—	uncertain significance
rs758406101	11:720,753	C/T	—	likely benign
rs778266262	11:720,759	C/A	—	likely benign
rs6597989	11:720,763	C/T	—	benign
rs904185089	11:720,820	G/A	—	likely benign
rs1216016086	11:720,826	C/G	—	likely benign
rs755290745	11:720,845	G/T	—	likely pathogenic
rs1415664565	11:720,858	G/A	—	uncertain significance
rs955810683	11:720,859	C/G	—	uncertain significance
rs1373347549	11:720,875	C/T	—	uncertain significance
rs1354158434	11:720,885	A/G	—	uncertain significance
rs758493990	11:720,892	G/A	—	uncertain significance
rs1480993355	11:720,901	G/T	—	uncertain significance
rs2494632807	11:720,902	A/G	—	uncertain significance
rs7106253	11:721,013	A/G	—	benign
rs7126891	11:721,019	A/G	—	benign
rs1564975936	11:721,047	A/G	—	likely benign
rs564173778	11:721,051	C/T	—	likely benign
rs1039884508	11:721,067	A/G	—	likely benign
rs369270282	11:721,084	G/A	—	uncertain significance
rs1051208606	11:721,095	T/C	—	uncertain significance
rs756468233	11:721,115	G/A	—	uncertain significance
rs1004247653	11:721,121	G/C	—	likely benign
rs201479451	11:721,122	G/T	—	likely benign
rs1862161716	11:721,125	C/T	—	uncertain significance
rs375898678	11:721,146	G/A	—	likely benign
rs904131729	11:721,147	G/A	—	uncertain significance
rs768406905	11:721,148	C/T	—	likely benign
rs771552139	11:721,174	G/A	—	uncertain significance
rs1053066750	11:721,178	G/T	—	likely benign
rs1862164111	11:721,191	C/T	—	uncertain significance
rs1862164591	11:721,216	G/A	—	likely benign
rs921493585	11:721,271	G/A	—	likely benign
rs2494637638	11:721,290	C/T	—	uncertain significance
rs767597522	11:721,291	G/A	—	uncertain significance
rs972700955	11:721,299	G/C	—	uncertain significance
rs539991215	11:721,318	G/A	—	uncertain significance
rs1012881286	11:721,319	G/A	—	likely benign
rs375649174	11:721,323	G/A	—	uncertain significance
rs1179556803	11:721,343	G/A	—	likely benign
rs1457545859	11:721,346	G/A	—	likely benign
rs987859427	11:721,362	C/T	—	likely benign
rs371342772	11:721,555	C/T	—	likely benign
rs1477710931	11:721,556	T/G	—	likely benign
rs111293076	11:721,563	A/T	—	uncertain significance
rs7635	11:721,570	C/T	—	benign
rs940188070	11:721,575	A/G	—	uncertain significance
rs543575638	11:721,579	C/T	—	likely benign

Showing 100 of 264 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.