ANO5

anoctamin 5

Summary

This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

Known Variants1,030 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1851682887	11:22,214,132	C/G	—	uncertain significance
rs114897158	11:22,214,778	A/C	—	conflicting classifications of pathogenicity
rs1268671175	11:22,214,788	T/G	—	uncertain significance
rs73479393	11:22,214,822	G/T	—	likely benign
rs181864243	11:22,214,829	G/C	—	uncertain significance
rs1851704604	11:22,214,838	C/A	—	uncertain significance
rs573002846	11:22,214,845	G/T	—	uncertain significance
rs61879341	11:22,214,877	A/G	—	uncertain significance
rs12792259	11:22,214,903	G/C	—	benign
rs886048116	11:22,214,974	G/C	—	uncertain significance
rs138260594	11:22,215,038	G/A	—	uncertain significance
rs781074405	11:22,215,044	C/T	—	conflicting classifications of pathogenicity
rs376116831	11:22,215,049	C/G	—	uncertain significance
rs773048192	11:22,215,051	G/A	—	conflicting classifications of pathogenicity
rs748716904	11:22,215,054	C/T	—	uncertain significance
rs1257688225	11:22,215,056	C/T	—	conflicting classifications of pathogenicity
rs886044133	11:22,215,057	C/T	—	conflicting classifications of pathogenicity
rs1191668273	11:22,215,060	G/T	—	pathogenic
rs1373002417	11:22,215,069	G/A	—	uncertain significance
rs774709754	11:22,215,077	A/G	—	uncertain significance
rs2494716427	11:22,215,078	G/A	—	conflicting classifications of pathogenicity
rs760033003	11:22,215,080	T/C	—	likely pathogenic
rs546818762	11:22,215,085	C/G	—	likely benign
rs1381445279	11:22,215,086	C/T	—	likely benign
rs911367458	11:22,215,087	G/C	—	likely benign
rs2494716510	11:22,215,090	C/T	—	likely benign
rs1365814169	11:22,215,098	C/T	—	likely benign
rs112145196	11:22,215,142	G/T	—	benign
rs115681635	11:22,215,319	C/A	—	likely benign
rs2133520438	11:22,225,346	T/A	—	likely benign
rs398124625	11:22,225,349	G/A	splice region variant	pathogenic
rs2133520474	11:22,225,352	G/C	—	uncertain significance
rs886042647	11:22,225,353	A/G	—	conflicting classifications of pathogenicity
rs760992965	11:22,225,358	G/A	—	uncertain significance
rs1564909951	11:22,225,360	C/A	—	likely benign
rs1010958758	11:22,225,362	A/G	—	conflicting classifications of pathogenicity
rs764506928	11:22,225,366	G/C	—	uncertain significance
rs762035813	11:22,225,378	C/A	—	pathogenic
rs886048117	11:22,225,388	A/C	—	uncertain significance
rs1554919178	11:22,225,396	G/A	—	uncertain significance
rs1387282754	11:22,225,399	A/G	—	uncertain significance
rs759370330	11:22,225,406	A/C	—	conflicting classifications of pathogenicity
rs2133520951	11:22,225,413	T/C	—	likely benign
rs2494760438	11:22,225,416	A/G	—	likely benign
rs74810265	11:22,225,533	A/G	—	likely benign
rs115533519	11:22,225,657	G/T	—	likely benign
rs10833719	11:22,226,884	T/C	intron variant	—
rs75162101	11:22,232,529	C/A	—	benign
rs745357713	11:22,232,794	C/A	—	likely benign
rs770721931	11:22,232,796	C/T	—	conflicting classifications of pathogenicity
rs1306192601	11:22,232,802	A/T	—	uncertain significance
rs1275678971	11:22,232,805	G/A	—	likely benign
rs2494790954	11:22,232,809	G/A	—	likely pathogenic
rs747575706	11:22,232,810	C/G	—	uncertain significance
rs1852267355	11:22,232,825	A/G	—	uncertain significance
rs1417289245	11:22,232,830	G/T	—	uncertain significance
rs2133551587	11:22,232,835	G/A	—	uncertain significance
rs2494791153	11:22,232,836	C/T	—	likely benign
rs776989759	11:22,232,845	C/G	—	uncertain significance
rs149627067	11:22,232,851	A/G	—	likely benign
rs1554920664	11:22,232,852	G/A	—	uncertain significance
rs537770163	11:22,232,858	A/G	—	uncertain significance
rs763119837	11:22,232,859	T/C	—	uncertain significance
rs1342335241	11:22,232,866	C/G	—	uncertain significance
rs886048118	11:22,232,867	A/G	—	uncertain significance
rs535319996	11:22,232,869	C/T	—	conflicting classifications of pathogenicity
rs78987921	11:22,232,870	G/A	—	conflicting classifications of pathogenicity
rs1228176618	11:22,232,871	A/G	—	likely benign
rs2494791637	11:22,232,872	C/A	—	likely benign
rs1275834009	11:22,232,874	A/G	—	likely benign
rs369683753	11:22,232,877	A/C	—	likely benign
rs555439713	11:22,232,880	A/G	—	likely benign
rs112938771	11:22,232,966	C/G	—	likely benign
rs77546698	11:22,233,026	G/A	—	benign
rs4922980	11:22,233,029	G/A	—	benign
rs4922981	11:22,233,066	T/C	—	benign
rs116738367	11:22,239,566	T/G	—	benign
rs113995629	11:22,239,594	G/A	—	likely benign
rs868484837	11:22,239,791	—	—	pathogenic
rs147323556	11:22,239,792	C/T	—	uncertain significance
rs750235317	11:22,239,793	C/T	—	uncertain significance
rs1156394263	11:22,239,795	G/A	—	uncertain significance
rs2133578091	11:22,239,799	A/G	—	uncertain significance
rs1168346560	11:22,239,801	C/T	—	pathogenic
rs370084681	11:22,239,802	G/A	—	conflicting classifications of pathogenicity
rs143777403	11:22,239,808	A/G	missense variant	pathogenic
rs886043577	11:22,239,814	T/C	—	uncertain significance
rs1323349209	11:22,239,822	C/T	—	conflicting classifications of pathogenicity
rs781702630	11:22,239,823	G/A	—	uncertain significance
rs201725369	11:22,239,825	C/T	—	pathogenic
rs749698519	11:22,239,826	G/A	—	conflicting classifications of pathogenicity
rs1564918396	11:22,239,835	T/C	—	likely pathogenic
rs774759385	11:22,239,839	A/G	—	uncertain significance
rs886044459	11:22,239,840	C/T	—	uncertain significance
rs4620717	11:22,240,056	G/A	—	benign
rs4543996	11:22,240,112	T/C	—	benign
rs144271338	11:22,240,146	G/A	—	likely benign
rs79402446	11:22,242,325	T/C	—	benign
rs80159991	11:22,242,423	T/C	—	benign
rs548034750	11:22,242,601	T/A	—	likely benign

Showing 100 of 1,030 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.