Col8a2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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148 records found for search term Col8a2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405279792	CV3191477	single nucleotide variant	NM_005202.4(COL8A2):c.*5C>T	COL8A2-related disorder [RCV003919630]	likely benign	1	36097564	36097564	Human		name , trait , alternate_id
405255815	CV3211281	single nucleotide variant	NM_005202.4(COL8A2):c.*3C>T	COL8A2-related disorder [RCV003939387]	likely benign	1	36097566	36097566	Human		name , trait , alternate_id
150435486	CV1226810	single nucleotide variant	NM_005202.4(COL8A2):c.*12G>T	Corneal dystrophy, Fuchs endothelial, 1 [RCV001658354]\|Posterior polymorphous corneal dystrophy 2 [RCV001658355]\|not provided [RCV001639904]	benign	1	36097557	36097557	Human	2	name
151236034	CV1319464	duplication	NM_005202.4(COL8A2):c.*13dup	not provided [RCV001797409]	likely benign	1	36097555	36097556	Human		name
329395047	CV2473012	single nucleotide variant	NM_005202.4(COL8A2):c.*90C>A	not provided [RCV003218995]	likely benign	1	36097479	36097479	Human		name
150491437	CV1225303	single nucleotide variant	NM_005202.4(COL8A2):c.194-87C>T	not provided [RCV001618818]	benign	1	36099574	36099574	Human		name
150436065	CV1234003	single nucleotide variant	NM_005202.4(COL8A2):c.193+67G>C	not provided [RCV001644130]	benign	1	36099983	36099983	Human		name
150436557	CV1245330	single nucleotide variant	NM_005202.4(COL8A2):c.193+34C>T	Corneal dystrophy, Fuchs endothelial, 1 [RCV001661301]\|Posterior polymorphous corneal dystrophy 2 [RCV001661302]\|not provided [RCV001696243]	benign	1	36100016	36100016	Human	2	name
152089533	CV1550416	single nucleotide variant	NM_005202.4(COL8A2):c.194-10T>C	not provided [RCV002131868]	benign	1	36099497	36099497	Human		name
150411093	CV1175892	single nucleotide variant	NM_005202.4(COL8A2):c.-16-275T>C	not provided [RCV001546979]	likely benign	1	36100533	36100533	Human		name
150503468	CV1223756	single nucleotide variant	NM_005202.4(COL8A2):c.-16-140T>C	not provided [RCV001621405]	benign	1	36100398	36100398	Human		name
150465033	CV1241421	single nucleotide variant	NM_005202.4(COL8A2):c.194-274A>G	not provided [RCV001649932]	benign	1	36099761	36099761	Human		name
150436750	CV1286420	single nucleotide variant	NM_005202.4(COL8A2):c.193+186G>A	not provided [RCV001724496]	benign	1	36099864	36099864	Human		name
152052000	CV1523531	microsatellite	NM_005202.4(COL8A2):c.194-7_194-4del	COL8A2-related disorder [RCV003978745]\|not provided [RCV002127358]	benign\|likely benign	1	36099491	36099494	Human		name , trait , alternate_id
156099732	CV2117094	single nucleotide variant	NM_005202.4(COL8A2):c.22C>T (p.Leu8=)	COL8A2-related disorder [RCV003926560]\|not provided [RCV002952693]	benign	1	36100221	36100221	Human	1	name , trait , alternate_id
152080402	CV1550119	single nucleotide variant	NM_005202.4(COL8A2):c.7G>A (p.Gly3Arg)	not provided [RCV002192949]	benign\|likely benign	1	36100236	36100236	Human		name
405237157	CV2881052	single nucleotide variant	NM_005202.4(COL8A2):c.96C>T (p.Ala32=)	not provided [RCV003556622]	benign	1	36100147	36100147	Human		name
405140597	CV3045967	single nucleotide variant	NM_005202.4(COL8A2):c.90C>T (p.Gly30=)	not provided [RCV003725612]	likely benign	1	36100153	36100153	Human		name
150502210	CV1241177	single nucleotide variant	NM_005202.4(COL8A2):c.105G>A (p.Ala35=)	not provided [RCV001657073]	benign	1	36100138	36100138	Human		name
152121073	CV1662130	single nucleotide variant	NM_005202.4(COL8A2):c.297A>G (p.Lys99=)	not provided [RCV002117859]	benign	1	36099384	36099384	Human		name
405148647	CV2881620	single nucleotide variant	NM_005202.4(COL8A2):c.129C>T (p.Tyr43=)	not provided [RCV003561448]	likely benign	1	36100114	36100114	Human		name
597663464	CV3653992	single nucleotide variant	NM_005202.4(COL8A2):c.23T>A (p.Leu8Gln)	Inborn genetic diseases [RCV004978987]	uncertain significance	1	36100220	36100220	Human	1	name
597916972	CV3737458	single nucleotide variant	NM_005202.4(COL8A2):c.255C>T (p.Pro85=)	not provided [RCV005074247]	likely benign	1	36099426	36099426	Human		name
156178429	CV2355931	single nucleotide variant	NM_005202.4(COL8A2):c.71C>T (p.Pro24Leu)	Inborn genetic diseases [RCV002983895]	uncertain significance	1	36100172	36100172	Human	1	name
401937626	CV2798839	duplication	NM_005202.4(COL8A2):c.281dup (p.Gly95fs)	COL8A2-related disorder [RCV003416690]	uncertain significance	1	36099399	36099400	Human		name , trait , alternate_id
405086373	CV2862207	single nucleotide variant	NM_005202.4(COL8A2):c.71C>G (p.Pro24Arg)	not provided [RCV003549594]	benign	1	36100172	36100172	Human		name
402506283	CV2880702	single nucleotide variant	NM_005202.4(COL8A2):c.402C>T (p.Val134=)	not provided [RCV003546397]	likely benign	1	36099279	36099279	Human		name
405001747	CV3005509	single nucleotide variant	NM_005202.4(COL8A2):c.660G>A (p.Gly220=)	not provided [RCV003693178]	benign	1	36099021	36099021	Human		name
405656644	CV3306318	single nucleotide variant	NM_005202.4(COL8A2):c.73C>T (p.Arg25Trp)	Inborn genetic diseases [RCV004437660]	uncertain significance	1	36100170	36100170	Human	1	name
407452019	CV3423236	single nucleotide variant	NM_005202.4(COL8A2):c.91G>A (p.Gly31Arg)	Inborn genetic diseases [RCV004608267]	uncertain significance	1	36100152	36100152	Human	1	name
596927949	CV3532712	single nucleotide variant	NM_005202.4(COL8A2):c.55G>A (p.Val19Met)	not provided [RCV004778810]	uncertain significance	1	36100188	36100188	Human		name
597663484	CV3653995	single nucleotide variant	NM_005202.4(COL8A2):c.74G>A (p.Arg25Gln)	Inborn genetic diseases [RCV004978990]	uncertain significance	1	36100169	36100169	Human	1	name
598233283	CV3948759	single nucleotide variant	NM_005202.4(COL8A2):c.77C>T (p.Ala26Val)	Inborn genetic diseases [RCV005319900]	uncertain significance	1	36100166	36100166	Human	1	name
598233290	CV3948762	single nucleotide variant	NM_005202.4(COL8A2):c.97G>A (p.Gly33Ser)	Inborn genetic diseases [RCV005319902]	uncertain significance	1	36100146	36100146	Human	1	name
15150282	CV707384	single nucleotide variant	NM_005202.4(COL8A2):c.807G>A (p.Val269=)	COL8A2-related disorder [RCV003943166]\|not provided [RCV000967913]	benign\|likely benign	1	36098874	36098874	Human	1	name , trait , alternate_id
15136350	CV732416	single nucleotide variant	NM_005202.4(COL8A2):c.639C>T (p.Pro213=)	not provided [RCV000898613]	likely benign	1	36099042	36099042	Human		name
150409245	CV1175891	single nucleotide variant	NM_005202.4(COL8A2):c.1137T>C (p.Gly379=)	not provided [RCV001546183]	benign\|likely benign	1	36098544	36098544	Human		name
150435788	CV1221739	single nucleotide variant	NM_005202.4(COL8A2):c.1005C>G (p.Leu335=)	COL8A2-related disorder [RCV003984000]\|not provided [RCV001609428]	benign	1	36098676	36098676	Human	1	name , trait , alternate_id
150481551	CV1222183	single nucleotide variant	NM_005202.4(COL8A2):c.1485G>A (p.Gly495=)	not provided [RCV001616981]	benign	1	36098196	36098196	Human		name
150438243	CV1247144	single nucleotide variant	NM_005202.4(COL8A2):c.1758C>T (p.Pro586=)	not provided [RCV001665913]	benign	1	36097923	36097923	Human		name
152160104	CV1544535	single nucleotide variant	NM_005202.4(COL8A2):c.1323A>G (p.Ala441=)	not provided [RCV002123032]	benign	1	36098358	36098358	Human		name
155996106	CV2109387	single nucleotide variant	NM_005202.4(COL8A2):c.1809C>T (p.Ser603=)	not provided [RCV002947567]	benign	1	36097872	36097872	Human		name
155916948	CV2278461	single nucleotide variant	NM_005202.4(COL8A2):c.262C>T (p.Arg88Trp)	Inborn genetic diseases [RCV002859101]	uncertain significance	1	36099419	36099419	Human	1	name
156040975	CV2387669	single nucleotide variant	NM_005202.4(COL8A2):c.104C>T (p.Ala35Val)	Inborn genetic diseases [RCV002758751]	uncertain significance	1	36100139	36100139	Human	1	name
401743368	CV2684687	single nucleotide variant	NM_005202.4(COL8A2):c.215C>T (p.Pro72Leu)	Inborn genetic diseases [RCV003251926]	uncertain significance	1	36099466	36099466	Human	1	name
401778581	CV2709306	single nucleotide variant	NM_005202.4(COL8A2):c.130A>G (p.Ile44Val)	Inborn genetic diseases [RCV003287125]	likely benign	1	36100113	36100113	Human	1	name
405220734	CV2884320	deletion	NM_005202.4(COL8A2):c.743del (p.Pro248fs)	not provided [RCV003553842]	uncertain significance	1	36098938	36098938	Human		name
405230573	CV2899633	single nucleotide variant	NM_005202.4(COL8A2):c.2095T>C (p.Leu699=)	not provided [RCV003555441]	likely benign	1	36097586	36097586	Human		name
405065446	CV3130047	single nucleotide variant	NM_005202.4(COL8A2):c.1836C>T (p.Phe612=)	not provided [RCV003833126]	likely benign	1	36097845	36097845	Human		name
405271685	CV3202951	single nucleotide variant	NM_005202.4(COL8A2):c.1662C>T (p.Ala554=)	COL8A2-related disorder [RCV003914008]	likely benign	1	36098019	36098019	Human		name , trait , alternate_id
405656633	CV3306316	single nucleotide variant	NM_005202.4(COL8A2):c.206C>T (p.Pro69Leu)	Inborn genetic diseases [RCV004437658]	uncertain significance	1	36099475	36099475	Human	1	name
597663509	CV3654002	single nucleotide variant	NM_005202.4(COL8A2):c.209T>G (p.Leu70Arg)	Inborn genetic diseases [RCV004978995]	uncertain significance	1	36099472	36099472	Human	1	name
597930509	CV3783909	single nucleotide variant	NM_005202.4(COL8A2):c.1764G>A (p.Ser588=)	not provided [RCV005116389]	benign	1	36097917	36097917	Human		name
597934802	CV3807137	single nucleotide variant	NM_005202.4(COL8A2):c.1362G>A (p.Gly454=)	not provided [RCV005157708]	likely benign	1	36098319	36098319	Human		name
15174531	CV696703	single nucleotide variant	NM_005202.4(COL8A2):c.1746C>T (p.Thr582=)	not provided [RCV000950365]	benign\|likely benign	1	36097935	36097935	Human		name
150478569	CV1238928	single nucleotide variant	NM_005202.4(COL8A2):c.464G>A (p.Arg155Gln)	not provided [RCV001652393]	benign	1	36099217	36099217	Human		name
155266223	CV1699664	single nucleotide variant	NM_005202.4(COL8A2):c.679C>T (p.Pro227Ser)	not specified [RCV002281764]	uncertain significance	1	36099002	36099002	Human		name
156119921	CV1969119	single nucleotide variant	NM_005202.4(COL8A2):c.446G>A (p.Arg149Gln)	Inborn genetic diseases [RCV004973474]\|not provided [RCV002593088]	uncertain significance	1	36099235	36099235	Human	1	name
156099561	CV2179951	single nucleotide variant	NM_005202.4(COL8A2):c.565G>C (p.Glu189Gln)	not provided [RCV003054672]	uncertain significance	1	36099116	36099116	Human		name
156382878	CV2223671	single nucleotide variant	NM_005202.4(COL8A2):c.629T>G (p.Val210Gly)	Inborn genetic diseases [RCV002722868]	uncertain significance	1	36099052	36099052	Human	1	name
156367895	CV2266894	single nucleotide variant	NM_005202.4(COL8A2):c.968C>T (p.Pro323Leu)	Inborn genetic diseases [RCV002813832]	uncertain significance	1	36098713	36098713	Human	1	name
156167230	CV2315290	single nucleotide variant	NM_005202.4(COL8A2):c.424C>T (p.Leu142Phe)	Inborn genetic diseases [RCV002916353]	uncertain significance	1	36099257	36099257	Human	1	name
156133542	CV2350352	single nucleotide variant	NM_005202.4(COL8A2):c.427C>T (p.Arg143Trp)	Inborn genetic diseases [RCV003003493]	uncertain significance	1	36099254	36099254	Human	1	name
156176417	CV2374445	single nucleotide variant	NM_005202.4(COL8A2):c.835G>A (p.Gly279Ser)	Inborn genetic diseases [RCV002699113]	uncertain significance	1	36098846	36098846	Human	1	name
329356519	CV2460381	single nucleotide variant	NM_005202.4(COL8A2):c.511A>G (p.Ile171Val)	Inborn genetic diseases [RCV003203321]	likely benign	1	36099170	36099170	Human	1	name
401770613	CV2726204	single nucleotide variant	NM_005202.4(COL8A2):c.605G>A (p.Arg202Gln)	Inborn genetic diseases [RCV003304090]	uncertain significance	1	36099076	36099076	Human	1	name
405656638	CV3306317	single nucleotide variant	NM_005202.4(COL8A2):c.388C>T (p.Leu130Phe)	Inborn genetic diseases [RCV004437659]	uncertain significance	1	36099293	36099293	Human	1	name
405656649	CV3306319	single nucleotide variant	NM_005202.4(COL8A2):c.814A>C (p.Lys272Gln)	Inborn genetic diseases [RCV004437661]	uncertain significance	1	36098867	36098867	Human	1	name
407452017	CV3423235	single nucleotide variant	NM_005202.4(COL8A2):c.789G>C (p.Arg263Ser)	Inborn genetic diseases [RCV004608266]\|not provided [RCV005102145]	uncertain significance	1	36098892	36098892	Human	1	name
407452023	CV3423238	single nucleotide variant	NM_005202.4(COL8A2):c.961C>A (p.Pro321Thr)	Inborn genetic diseases [RCV004608269]	uncertain significance	1	36098720	36098720	Human	1	name
407452025	CV3423239	single nucleotide variant	NM_005202.4(COL8A2):c.805G>C (p.Val269Leu)	Inborn genetic diseases [RCV004608270]	likely benign	1	36098876	36098876	Human	1	name
597663469	CV3653993	single nucleotide variant	NM_005202.4(COL8A2):c.463C>T (p.Arg155Trp)	Inborn genetic diseases [RCV004978988]	uncertain significance	1	36099218	36099218	Human	1	name
597663493	CV3653997	single nucleotide variant	NM_005202.4(COL8A2):c.872C>A (p.Pro291Gln)	Inborn genetic diseases [RCV004978992]\|Posterior polymorphous corneal dystrophy 2 [RCV005358170]	uncertain significance	1	36098809	36098809	Human	2	name
597663501	CV3653999	single nucleotide variant	NM_005202.4(COL8A2):c.805G>A (p.Val269Met)	Inborn genetic diseases [RCV004978994]	uncertain significance	1	36098876	36098876	Human	1	name
597663513	CV3654003	single nucleotide variant	NM_005202.4(COL8A2):c.400G>A (p.Val134Ile)	Inborn genetic diseases [RCV004978996]	uncertain significance	1	36099281	36099281	Human	1	name
597663518	CV3654004	single nucleotide variant	NM_005202.4(COL8A2):c.491C>T (p.Pro164Leu)	Inborn genetic diseases [RCV004978997]	uncertain significance	1	36099190	36099190	Human	1	name
597663524	CV3654005	single nucleotide variant	NM_005202.4(COL8A2):c.910C>T (p.Arg304Trp)	Inborn genetic diseases [RCV004978998]	uncertain significance	1	36098771	36098771	Human	1	name
597891001	CV3856512	single nucleotide variant	NM_005202.4(COL8A2):c.361C>T (p.Arg121Trp)	not provided [RCV005200577]	benign	1	36099320	36099320	Human		name
598233278	CV3948758	single nucleotide variant	NM_005202.4(COL8A2):c.487C>T (p.Leu163Phe)	Inborn genetic diseases [RCV005319899]	uncertain significance	1	36099194	36099194	Human	1	name
598264849	CV3948760	single nucleotide variant	NM_005202.4(COL8A2):c.452A>G (p.Asp151Gly)	Inborn genetic diseases [RCV005326214]	uncertain significance	1	36099229	36099229	Human	1	name
598233286	CV3948761	single nucleotide variant	NM_005202.4(COL8A2):c.740C>T (p.Ala247Val)	Inborn genetic diseases [RCV005319901]	uncertain significance	1	36098941	36098941	Human	1	name
126909786	CV1037023	single nucleotide variant	NM_005202.4(COL8A2):c.1876G>T (p.Val626Leu)	not provided [RCV001354072]	uncertain significance	1	36097805	36097805	Human		name
127323206	CV1131375	single nucleotide variant	NM_005202.4(COL8A2):c.1301G>A (p.Arg434His)	not provided [RCV001485177]	benign\|likely benign	1	36098380	36098380	Human		name
150467108	CV1277515	single nucleotide variant	NM_005202.4(COL8A2):c.1505C>T (p.Thr502Met)	COL8A2-related disorder [RCV003976049]\|not provided [RCV001710810]	benign	1	36098176	36098176	Human	1	name , trait , alternate_id
151782025	CV1350009	single nucleotide variant	NM_005202.4(COL8A2):c.1280G>T (p.Gly427Val)	not provided [RCV001989226]	uncertain significance	1	36098401	36098401	Human		name
151770802	CV1410832	single nucleotide variant	NM_005202.4(COL8A2):c.1328C>T (p.Ala443Val)	not provided [RCV001971165]	uncertain significance	1	36098353	36098353	Human		name
151888631	CV1512894	single nucleotide variant	NM_005202.4(COL8A2):c.1645G>A (p.Gly549Ser)	Inborn genetic diseases [RCV002545816]\|not provided [RCV001888005]	uncertain significance	1	36098036	36098036	Human	1	name
152130331	CV1584465	single nucleotide variant	NM_005202.4(COL8A2):c.1699G>A (p.Gly567Ser)	Inborn genetic diseases [RCV002551280]\|not provided [RCV002082777]	benign\|uncertain significance	1	36097982	36097982	Human	1	name
152094699	CV1618344	single nucleotide variant	NM_005202.4(COL8A2):c.1724C>T (p.Pro575Leu)	not provided [RCV002078179]	benign	1	36097957	36097957	Human		name
156036458	CV2047634	single nucleotide variant	NM_005202.4(COL8A2):c.1648G>A (p.Gly550Ser)	Inborn genetic diseases [RCV004612253]\|not provided [RCV002781327]	uncertain significance	1	36098033	36098033	Human	1	name
156343417	CV2099781	single nucleotide variant	NM_005202.4(COL8A2):c.2053C>T (p.Leu685Phe)	not provided [RCV002900608]	uncertain significance	1	36097628	36097628	Human		name
156118588	CV2219186	single nucleotide variant	NM_005202.4(COL8A2):c.1586C>A (p.Pro529His)	Inborn genetic diseases [RCV002707684]	uncertain significance	1	36098095	36098095	Human	1	name
155934710	CV2225378	single nucleotide variant	NM_005202.4(COL8A2):c.1660G>A (p.Ala554Thr)	Inborn genetic diseases [RCV002729280]	uncertain significance	1	36098021	36098021	Human	1	name
156033295	CV2236210	single nucleotide variant	NM_005202.4(COL8A2):c.1759G>A (p.Ala587Thr)	Inborn genetic diseases [RCV002758226]	uncertain significance	1	36097922	36097922	Human	1	name
156140283	CV2247032	single nucleotide variant	NM_005202.4(COL8A2):c.1249C>T (p.His417Tyr)	Inborn genetic diseases [RCV002763487]	uncertain significance	1	36098432	36098432	Human	1	name
156100893	CV2260291	single nucleotide variant	NM_005202.4(COL8A2):c.1114C>T (p.Arg372Cys)	Inborn genetic diseases [RCV002799118]\|not provided [RCV003730283]	uncertain significance	1	36098567	36098567	Human	1	name
156082088	CV2292880	single nucleotide variant	NM_005202.4(COL8A2):c.1276A>C (p.Lys426Gln)	Inborn genetic diseases [RCV002869321]	uncertain significance	1	36098405	36098405	Human	1	name
156168827	CV2299502	single nucleotide variant	NM_005202.4(COL8A2):c.1553C>T (p.Thr518Met)	Inborn genetic diseases [RCV002891283]	uncertain significance	1	36098128	36098128	Human	1	name
155958159	CV2304248	single nucleotide variant	NM_005202.4(COL8A2):c.1651G>A (p.Val551Met)	Inborn genetic diseases [RCV002905771]	uncertain significance	1	36098030	36098030	Human	1	name
156005345	CV2393981	single nucleotide variant	NM_005202.4(COL8A2):c.1580C>A (p.Pro527Gln)	Inborn genetic diseases [RCV002734512]	uncertain significance	1	36098101	36098101	Human	1	name
155964585	CV2395858	single nucleotide variant	NM_005202.4(COL8A2):c.1589C>A (p.Pro530His)	Inborn genetic diseases [RCV002754328]	uncertain significance	1	36098092	36098092	Human	1	name
329357033	CV2460663	single nucleotide variant	NM_005202.4(COL8A2):c.2003G>A (p.Arg668Gln)	Inborn genetic diseases [RCV003203527]	uncertain significance	1	36097678	36097678	Human	1	name
401731367	CV2674349	single nucleotide variant	NM_005202.4(COL8A2):c.1517C>T (p.Thr506Met)	Inborn genetic diseases [RCV003248572]	uncertain significance	1	36098164	36098164	Human	1	name
401730331	CV2711215	single nucleotide variant	NM_005202.4(COL8A2):c.1140G>C (p.Glu380Asp)	Inborn genetic diseases [RCV003271324]	uncertain significance	1	36098541	36098541	Human	1	name
401753374	CV2722447	single nucleotide variant	NM_005202.4(COL8A2):c.1286C>A (p.Pro429Gln)	Inborn genetic diseases [RCV003277670]	uncertain significance	1	36098395	36098395	Human	1	name
401779504	CV2731854	single nucleotide variant	NM_005202.4(COL8A2):c.1223C>T (p.Pro408Leu)	Inborn genetic diseases [RCV003307253]	uncertain significance	1	36098458	36098458	Human	1	name
401856929	CV2759876	single nucleotide variant	NM_005202.4(COL8A2):c.1576C>T (p.Pro526Ser)	Inborn genetic diseases [RCV003356426]	uncertain significance	1	36098105	36098105	Human	1	name
401885410	CV2768141	single nucleotide variant	NM_005202.4(COL8A2):c.1961G>A (p.Gly654Asp)	Inborn genetic diseases [RCV003366531]	uncertain significance	1	36097720	36097720	Human	1	name
401863584	CV2770730	single nucleotide variant	NM_005202.4(COL8A2):c.1487G>A (p.Arg496Lys)	Inborn genetic diseases [RCV003359041]	likely benign	1	36098194	36098194	Human	1	name
401871859	CV2779502	single nucleotide variant	NM_005202.4(COL8A2):c.1004T>C (p.Leu335Pro)	Inborn genetic diseases [RCV003361639]	uncertain significance	1	36098677	36098677	Human	1	name
401898219	CV2790963	single nucleotide variant	NM_005202.4(COL8A2):c.1165G>A (p.Val389Met)	Inborn genetic diseases [RCV003376371]	uncertain significance	1	36098516	36098516	Human	1	name
401927472	CV2812651	single nucleotide variant	NM_005202.4(COL8A2):c.1151G>A (p.Gly384Glu)	not provided [RCV003406343]	uncertain significance	1	36098530	36098530	Human		name
405075491	CV2873153	single nucleotide variant	NM_005202.4(COL8A2):c.1882G>A (p.Val628Ile)	Inborn genetic diseases [RCV004369098]\|not provided [RCV003548735]	uncertain significance	1	36097799	36097799	Human	1	name
405220228	CV2904078	single nucleotide variant	NM_005202.4(COL8A2):c.1057C>T (p.Pro353Ser)	not provided [RCV003568261]	uncertain significance	1	36098624	36098624	Human		name
405066857	CV2936705	single nucleotide variant	NM_005202.4(COL8A2):c.1084C>T (p.Leu362Phe)	not provided [RCV003659176]	uncertain significance	1	36098597	36098597	Human		name
405129805	CV3054561	single nucleotide variant	NM_005202.4(COL8A2):c.1802G>C (p.Gly601Ala)	Inborn genetic diseases [RCV004374015]\|not provided [RCV003724724]	uncertain significance	1	36097879	36097879	Human	1	name
405158969	CV3061647	single nucleotide variant	NM_005202.4(COL8A2):c.1156C>A (p.Pro386Thr)	not provided [RCV003726959]	uncertain significance	1	36098525	36098525	Human		name
405206244	CV3154623	single nucleotide variant	NM_005202.4(COL8A2):c.1702G>A (p.Glu568Lys)	not provided [RCV003845133]	uncertain significance	1	36097979	36097979	Human		name
405280777	CV3195692	single nucleotide variant	NM_005202.4(COL8A2):c.1069G>C (p.Gly357Arg)	COL8A2-related disorder [RCV003906927]	likely benign	1	36098612	36098612	Human		name , trait , alternate_id
8566038	CV32186	single nucleotide variant	NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys)	Corneal dystrophy, Fuchs endothelial, 1 [RCV000018685]\|Posterior polymorphous corneal dystrophy 2 [RCV000018686]	pathogenic	1	36098318	36098318	Human	2	name
8566039	CV32187	single nucleotide variant	NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp)	Corneal dystrophy, Fuchs endothelial, 1 [RCV000018687]\|Posterior polymorphous corneal dystrophy 2 [RCV000018688]	pathogenic	1	36098332	36098332	Human	2	name
405656590	CV3306307	single nucleotide variant	NM_005202.4(COL8A2):c.1255C>T (p.Pro419Ser)	Inborn genetic diseases [RCV004437649]	uncertain significance	1	36098426	36098426	Human	1	name
405656596	CV3306308	single nucleotide variant	NM_005202.4(COL8A2):c.1297G>A (p.Gly433Ser)	Inborn genetic diseases [RCV004437650]	uncertain significance	1	36098384	36098384	Human	1	name
405656600	CV3306309	single nucleotide variant	NM_005202.4(COL8A2):c.1300C>T (p.Arg434Cys)	Inborn genetic diseases [RCV004437651]	uncertain significance	1	36098381	36098381	Human	1	name
405656610	CV3306311	single nucleotide variant	NM_005202.4(COL8A2):c.1654G>A (p.Glu552Lys)	Inborn genetic diseases [RCV004437653]	uncertain significance	1	36098027	36098027	Human	1	name
405656614	CV3306312	single nucleotide variant	NM_005202.4(COL8A2):c.1810G>A (p.Gly604Ser)	Inborn genetic diseases [RCV004437654]	uncertain significance	1	36097871	36097871	Human	1	name
405656620	CV3306313	single nucleotide variant	NM_005202.4(COL8A2):c.1843C>A (p.Pro615Thr)	Inborn genetic diseases [RCV004437655]	uncertain significance	1	36097838	36097838	Human	1	name
405656623	CV3306314	single nucleotide variant	NM_005202.4(COL8A2):c.1855G>A (p.Val619Ile)	Inborn genetic diseases [RCV004437656]	uncertain significance	1	36097826	36097826	Human	1	name
405656628	CV3306315	single nucleotide variant	NM_005202.4(COL8A2):c.2002C>T (p.Arg668Trp)	Inborn genetic diseases [RCV004437657]	uncertain significance	1	36097679	36097679	Human	1	name
407452021	CV3423237	single nucleotide variant	NM_005202.4(COL8A2):c.1676G>A (p.Gly559Glu)	Inborn genetic diseases [RCV004608268]	uncertain significance	1	36098005	36098005	Human	1	name
408394308	CV3521923	single nucleotide variant	NM_005202.4(COL8A2):c.1484G>T (p.Gly495Val)	Corneal dystrophy, Fuchs endothelial, 1 [RCV004764722]	uncertain significance	1	36098197	36098197	Human	1	name
597663477	CV3653994	single nucleotide variant	NM_005202.4(COL8A2):c.1928C>T (p.Pro643Leu)	Inborn genetic diseases [RCV004978989]	uncertain significance	1	36097753	36097753	Human	1	name
597663486	CV3653996	single nucleotide variant	NM_005202.4(COL8A2):c.1580C>T (p.Pro527Leu)	Inborn genetic diseases [RCV004978991]	uncertain significance	1	36098101	36098101	Human	1	name
597663496	CV3653998	single nucleotide variant	NM_005202.4(COL8A2):c.1393C>T (p.Pro465Ser)	Inborn genetic diseases [RCV004978993]	uncertain significance	1	36098288	36098288	Human	1	name
597663529	CV3654006	single nucleotide variant	NM_005202.4(COL8A2):c.2073C>G (p.Ile691Met)	Inborn genetic diseases [RCV004978999]	uncertain significance	1	36097608	36097608	Human	1	name
597663535	CV3654007	single nucleotide variant	NM_005202.4(COL8A2):c.1990G>A (p.Val664Met)	Inborn genetic diseases [RCV004979000]	uncertain significance	1	36097691	36097691	Human	1	name
597663678	CV3654008	single nucleotide variant	NM_005202.4(COL8A2):c.1661C>T (p.Ala554Val)	Inborn genetic diseases [RCV004979001]	uncertain significance	1	36098020	36098020	Human	1	name
597899321	CV3740926	single nucleotide variant	NM_005202.4(COL8A2):c.2036C>T (p.Ser679Leu)	not provided [RCV005072089]	uncertain significance	1	36097645	36097645	Human		name
597874742	CV3747472	single nucleotide variant	NM_005202.4(COL8A2):c.1684C>G (p.Pro562Ala)	not provided [RCV005069156]	uncertain significance	1	36097997	36097997	Human		name
597933105	CV3780870	single nucleotide variant	NM_005202.4(COL8A2):c.1549A>G (p.Ile517Val)	not provided [RCV005116982]	uncertain significance	1	36098132	36098132	Human		name
597942092	CV3819417	single nucleotide variant	NM_005202.4(COL8A2):c.2060C>T (p.Ser687Phe)	not provided [RCV005159227]	uncertain significance	1	36097621	36097621	Human		name
598264845	CV3948757	single nucleotide variant	NM_005202.4(COL8A2):c.1439C>T (p.Pro480Leu)	Inborn genetic diseases [RCV005326213]	uncertain significance	1	36098242	36098242	Human	1	name
598233293	CV3948763	single nucleotide variant	NM_005202.4(COL8A2):c.1576C>A (p.Pro526Thr)	Inborn genetic diseases [RCV005319903]	uncertain significance	1	36098105	36098105	Human	1	name
598216091	CV3895138	deletion	NM_005202.4(COL8A2):c.1576_1583del (p.Pro526fs)	Posterior polymorphous corneal dystrophy 2 [RCV005360059]	uncertain significance	1	36098098	36098105	Human	1	name
155979498	CV2132668	deletion	NM_005202.4(COL8A2):c.1557_1565del (p.520PPG[3])	not provided [RCV002996025]	uncertain significance	1	36098116	36098124	Human		name
405272649	CV3210112	microsatellite	NM_005202.4(COL8A2):c.30GCT[6] (p.Leu16_Val17insLeu)	COL8A2-related disorder [RCV003914361]\|not provided [RCV005101732]	benign	1	36100198	36100199	Human		name , trait , alternate_id
9693470	CV178168	indel	NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val)	Corneal dystrophy, Fuchs endothelial, 1 [RCV000154184]	pathogenic	1	36098317	36098318	Human		name
597878247	CV3783090	deletion	NM_005202.4(COL8A2):c.442_801del (p.Ile148_Gly267del)	not provided [RCV005123792]	uncertain significance	1	36098880	36099239	Human		name

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