COL8A2

collagen type VIII alpha 2 chain

Summary

This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Known Variants107 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs555076209	1:36,563,080	G/T	—	likely benign
rs3738360	1:36,563,158	A/C	—	benign
rs149180733	1:36,563,165	G/A	—	likely benign
rs755677174	1:36,563,167	G/A	—	likely benign
rs928574991	1:36,563,187	A/G	—	likely benign
rs770069044	1:36,563,229	G/A	—	uncertain significance
rs141682102	1:36,563,279	C/T	—	uncertain significance
rs201587529	1:36,563,280	G/A	—	uncertain significance
rs1240857567	1:36,563,321	C/T	—	uncertain significance
rs200185433	1:36,563,400	C/T	—	uncertain significance
rs928614322	1:36,563,406	C/A	—	uncertain significance
rs150169820	1:36,563,427	C/T	—	uncertain significance
rs2524698984	1:36,563,439	G/T	—	uncertain significance
rs1042743559	1:36,563,446	G/A	—	likely benign
rs1197196296	1:36,563,472	C/T	—	uncertain significance
rs139081156	1:36,563,473	G/A	—	benign
rs780560468	1:36,563,480	C/G	—	uncertain significance
rs759403098	1:36,563,523	C/T	—	uncertain significance
rs35841184	1:36,563,524	A/G	—	benign
rs149090218	1:36,563,536	G/A	—	likely benign
rs145553904	1:36,563,558	G/A	—	benign
rs774419881	1:36,563,580	C/T	—	uncertain significance
rs142307403	1:36,563,583	C/T	—	conflicting classifications of pathogenicity
rs753604558	1:36,563,620	G/A	—	likely benign
rs2524699639	1:36,563,622	C/T	—	uncertain significance
rs2524699689	1:36,563,628	C/T	—	uncertain significance
rs1296746695	1:36,563,631	C/T	—	uncertain significance
rs745415315	1:36,563,634	C/T	—	uncertain significance
rs780054210	1:36,563,637	C/T	—	uncertain significance
rs2524700036	1:36,563,693	G/T	—	uncertain significance
rs753315893	1:36,563,696	G/T	—	uncertain significance
rs764603717	1:36,563,702	G/T	—	uncertain significance
rs533259114	1:36,563,706	G/A	—	uncertain significance
rs781002025	1:36,563,729	G/A	—	uncertain significance
rs887293539	1:36,563,765	G/A	—	uncertain significance
rs117860804	1:36,563,777	G/A	—	benign
rs763868014	1:36,563,795	C/T	—	likely benign
rs35495320	1:36,563,797	C/T	—	benign
rs80358191	1:36,563,919	G/T	missense variant	pathogenic
rs80358192	1:36,563,933	A/C	missense variant	pathogenic
rs747108574	1:36,563,954	G/A	—	uncertain significance
rs182708720	1:36,563,959	T/C	—	benign
rs201235688	1:36,563,981	C/T	—	likely benign
rs370063465	1:36,563,982	G/A	—	uncertain significance
rs1410794668	1:36,563,985	C/T	—	uncertain significance
rs754492511	1:36,563,996	G/T	—	uncertain significance
rs1643612359	1:36,564,002	C/A	—	uncertain significance
rs752690999	1:36,564,006	T/G	—	uncertain significance
rs553809063	1:36,564,027	G/A	—	uncertain significance
rs2524701381	1:36,564,033	G/A	—	uncertain significance
rs780153991	1:36,564,059	G/A	—	uncertain significance
rs2524701574	1:36,564,117	C/T	—	uncertain significance
rs763244654	1:36,564,126	G/T	—	uncertain significance
rs774061260	1:36,564,131	C/T	—	uncertain significance
rs375174124	1:36,564,142	C/G	—	uncertain significance
rs77385288	1:36,564,145	A/G	—	likely benign
rs780318859	1:36,564,168	G/A	—	uncertain significance
rs778152352	1:36,564,198	G/A	—	uncertain significance
rs199786966	1:36,564,213	C/G	—	likely benign
rs2524701925	1:36,564,225	G/A	—	uncertain significance
rs79833067	1:36,564,277	G/C	—	benign
rs1643618678	1:36,564,278	A/G	—	uncertain significance
rs752761856	1:36,564,314	G/A	—	uncertain significance
rs779741804	1:36,564,447	C/T	—	uncertain significance
rs1643622981	1:36,564,468	T/G	—	uncertain significance
rs140730816	1:36,564,475	C/T	—	likely benign
rs773972659	1:36,564,603	G/A	—	uncertain significance
rs202184606	1:36,564,622	C/T	—	benign
rs377355712	1:36,564,643	G/A	—	likely benign
rs2524703477	1:36,564,653	A/C	—	uncertain significance
rs777380349	1:36,564,677	C/T	—	uncertain significance
rs776813844	1:36,564,717	C/G	—	uncertain significance
rs1330011090	1:36,564,771	T/C	—	likely benign
rs75864656	1:36,564,818	C/T	—	benign
rs895914843	1:36,564,836	C/T	—	uncertain significance
rs749319879	1:36,564,855	G/A	—	uncertain significance
rs2524704604	1:36,564,858	G/A	—	uncertain significance
rs536968194	1:36,564,880	G/A	—	likely benign
rs1029280012	1:36,564,894	G/A	—	uncertain significance
rs759570892	1:36,564,985	T/C	—	benign
rs960408677	1:36,565,020	G/A	—	uncertain significance
rs367993938	1:36,565,067	G/A	—	uncertain significance
rs1403447064	1:36,565,076	G/A	—	uncertain significance
rs201740362	1:36,565,098	A/G	—	benign
rs66899567	1:36,565,175	A/G	—	benign
rs6693322	1:36,565,362	C/T	—	benign
rs74066023	1:36,565,465	C/T	—	benign
rs274753	1:36,565,584	G/C	—	benign
rs274754	1:36,565,617	A/G	—	benign
rs77354921	1:36,565,714	T/C	—	likely benign
rs374713668	1:36,565,715	G/A	—	likely benign
rs57985157	1:36,565,739	C/T	—	benign
rs530477885	1:36,565,740	G/A	—	uncertain significance
rs369481166	1:36,565,748	G/A	—	benign
rs145629490	1:36,565,754	G/A	—	likely benign
rs546556937	1:36,565,771	G/A	—	uncertain significance
rs138182427	1:36,565,773	G/A	—	uncertain significance
rs75750458	1:36,565,822	G/A	—	benign
rs115156902	1:36,565,837	C/T	—	likely benign
rs4652900	1:36,565,999	G/A	—	benign

Showing 100 of 107 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.