CNTN2

contactin 2

Summary

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

Known Variants698 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs78926127	1:205,021,949	G/A	intron variant	—
rs1415906808	1:205,022,321	C/A	—	uncertain significance
rs2096455937	1:205,022,344	C/G	—	uncertain significance
rs1375494353	1:205,022,352	G/A	—	likely benign
rs1290934625	1:205,022,362	G/A	—	uncertain significance
rs2151185969	1:205,022,364	G/A	—	likely benign
rs959699568	1:205,022,370	T/C	—	likely benign
rs772373856	1:205,022,375	C/T	—	uncertain significance
rs149630443	1:205,022,376	C/T	—	benign
rs2526329602	1:205,022,382	A/G	—	uncertain significance
rs2526329618	1:205,022,391	G/A	—	likely benign
rs1212916132	1:205,022,399	T/A	—	likely benign
rs574798084	1:205,023,599	G/A	—	—
rs140373907	1:205,025,287	G/T	intron variant	—
rs762328579	1:205,027,030	G/T	—	likely benign
rs2151188960	1:205,027,042	C/T	—	likely benign
rs749400715	1:205,027,043	C/T	—	likely benign
rs756920444	1:205,027,063	C/G	—	uncertain significance
rs990929937	1:205,027,077	C/T	—	likely benign
rs1653734708	1:205,027,080	C/T	—	likely benign
rs147074435	1:205,027,083	C/T	—	benign
rs2151189002	1:205,027,101	C/T	—	likely benign
rs2526345528	1:205,027,102	C/T	—	pathogenic
rs779928603	1:205,027,112	G/A	—	uncertain significance
rs2526345619	1:205,027,113	T/C	—	likely benign
rs772095599	1:205,027,119	A/C	—	likely benign
rs369804751	1:205,027,136	C/T	—	uncertain significance
rs907497961	1:205,027,137	G/A	—	likely benign
rs374208965	1:205,027,147	G/A	—	uncertain significance
rs2526345932	1:205,027,150	T/C	—	likely benign
rs12076297	1:205,027,156	G/A	—	benign
rs2526346022	1:205,027,157	C/T	—	uncertain significance
rs763492479	1:205,027,162	C/T	—	uncertain significance
rs772280387	1:205,027,163	G/A	—	uncertain significance
rs762058787	1:205,027,164	C/T	—	likely benign
rs761386498	1:205,027,165	G/A	—	uncertain significance
rs2526346095	1:205,027,166	C/A	—	uncertain significance
rs924467351	1:205,027,168	C/T	—	uncertain significance
rs199539011	1:205,027,169	G/A	—	uncertain significance
rs1653745328	1:205,027,176	C/T	—	likely benign
rs555512649	1:205,027,186	A/T	—	uncertain significance
rs149564430	1:205,027,192	C/T	—	conflicting classifications of pathogenicity
rs145070278	1:205,027,193	G/A	—	uncertain significance
rs370377460	1:205,027,199	G/C	—	uncertain significance
rs543861806	1:205,027,204	T/G	—	likely benign
rs769149441	1:205,027,205	G/A	—	likely benign
rs939809329	1:205,027,213	T/G	—	likely benign
rs2526346986	1:205,027,290	C/T	—	likely benign
rs1306166742	1:205,027,291	C/T	—	likely benign
rs780295997	1:205,027,294	T/G	—	likely benign
rs577845981	1:205,027,300	C/T	—	likely benign
rs2526347118	1:205,027,315	G/A	—	likely benign
rs144767577	1:205,027,316	A/G	—	likely benign
rs772708966	1:205,027,327	C/T	—	likely benign
rs377098737	1:205,027,328	G/A	—	uncertain significance
rs776309126	1:205,027,331	A/G	—	likely benign
rs1482030291	1:205,027,333	G/A	—	uncertain significance
rs140567763	1:205,027,349	T/C	—	uncertain significance
rs758394749	1:205,027,353	G/A	—	uncertain significance
rs767771094	1:205,027,354	T/C	—	likely benign
rs756428097	1:205,027,364	G/A	—	uncertain significance
rs780284181	1:205,027,366	G/T	—	likely benign
rs2526347468	1:205,027,367	G/C	—	uncertain significance
rs2151189280	1:205,027,376	C/T	—	likely benign
rs9787172	1:205,027,390	C/T	—	benign
rs1350606305	1:205,027,391	C/T	—	uncertain significance
rs1359784884	1:205,027,398	A/C	—	uncertain significance
rs755421629	1:205,027,399	G/A	—	likely benign
rs2526347707	1:205,027,401	C/T	—	uncertain significance
rs562036555	1:205,027,410	C/G	—	uncertain significance
rs372422500	1:205,027,411	C/T	—	likely benign
rs1653771144	1:205,027,418	T/G	—	uncertain significance
rs1032446046	1:205,027,430	G/C	—	uncertain significance
rs1186385180	1:205,027,435	C/T	—	likely benign
rs2151189366	1:205,027,444	G/A	—	uncertain significance
rs1424524492	1:205,027,451	G/A	—	uncertain significance
rs1653773193	1:205,027,462	G/A	—	likely benign
rs759086850	1:205,027,476	G/A	—	uncertain significance
rs957164200	1:205,027,480	C/T	—	likely benign
rs368353579	1:205,027,481	G/A	—	uncertain significance
rs1318869557	1:205,027,491	C/G	—	likely benign
rs2526348310	1:205,027,492	C/G	—	likely benign
rs531062186	1:205,027,493	C/T	—	likely benign
rs750562954	1:205,027,495	C/T	—	likely benign
rs16855012	1:205,027,496	G/A	—	likely benign
rs200725113	1:205,027,497	G/A	—	benign
rs2526348410	1:205,027,502	C/T	—	likely benign
rs2151189586	1:205,027,677	C/T	—	likely benign
rs148381903	1:205,027,682	G/T	—	likely benign
rs2151189605	1:205,027,698	C/T	—	likely benign
rs755814341	1:205,027,719	G/A	—	uncertain significance
rs779892361	1:205,027,722	C/T	—	pathogenic
rs768629152	1:205,027,723	G/A	—	uncertain significance
rs774281069	1:205,027,727	C/T	—	likely benign
rs143259493	1:205,027,728	C/T	—	uncertain significance
rs2151189641	1:205,027,731	G/T	—	uncertain significance
rs2275697	1:205,027,737	G/A	missense variant	benign
rs1395072638	1:205,027,772	C/T	—	likely benign
rs1653796008	1:205,027,780	C/T	—	uncertain significance
rs2151189694	1:205,027,782	C/A	—	uncertain significance

Showing 100 of 698 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.