Star Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8560823	CV24033	single nucleotide variant	STAR, IVS1, G-T, +1	Cholesterol monooxygenase (side-chain cleaving) deficiency [RCV000009557]	pathogenic				Human		name
8596855	CV20649	single nucleotide variant	NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	Cone-rod dystrophy 12 [RCV000005962]\|Macular dystrophy [RCV000787649]\|Retinal dystrophy [RCV000504765]\|Retinal macular dystrophy type 2 [RCV000005961]\|Retinitis pigmentosa [RCV001723543]\|Stargardt disease 4 [RCV000005960]\|Star ... (more) n>gardt disease 4 [RCV002496275]\|Stargardt disease [RCV000787648]\|not provided [RCV000479499]	pathogenic\|likely pathogenic	4	16013299	16013299	Human	10	trait , alternate_id
8560202	CV22952	single nucleotide variant	NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	ABCA4-related disorder [RCV001101950]\|ABCA4-related retinopathy [RCV005364873]\|Cone-Rod Dystrophy, Recessive [RCV000349295]\|MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO [RCV000008374]\|Macular degeneration [RCV000294335]\|Retinal dystrophy [RCV003887858]\|Retinitis Pigmentosa, Recessive [RCV ... (more) 000392936]\|Severe early-childhood-onset retinal dystrophy [RCV000008375]\|Stargardt Disease, Recessive [RCV000399411]\|Stargardt disease 3 [RCV004558243]\|Stargardt disease [RCV001002837]\|not provided [RCV000085512]\|not specified [RCV000152706]	pathogenic\|likely pathogenic\|risk factor\|established risk allele\|benign\|likely benign\|uncertain significance\|not provided	1	94047009	94047009	Human	10	trait , alternate_id
598123909	CV3885106	single nucleotide variant	NM_000349.3(STAR):c.*5C>T	not specified [RCV005238718]	uncertain significance	8	38144268	38144268	Human		name
11633986	CV305176	single nucleotide variant	NM_000349.3(STAR):c.*88G>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000385205]\|not provided [RCV004696072]	uncertain significance	8	38144185	38144185	Human	2	name
11633431	CV305191	single nucleotide variant	NM_000349.3(STAR):c.-70G>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000336663]	uncertain significance	8	38150888	38150888	Human	2	name
11633280	CV314156	single nucleotide variant	NM_000349.3(STAR):c.*93C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000326040]	uncertain significance	8	38144180	38144180	Human	2	name
28871430	CV899455	single nucleotide variant	NM_000349.3(STAR):c.-16C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163951]	uncertain significance	8	38150834	38150834	Human	2	name
127238469	CV1061339	single nucleotide variant	NM_000349.3(STAR):c.64+1G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV005040253]\|not provided [RCV001383037]	pathogenic\|likely pathogenic	8	38150754	38150754	Human	2	name
127272313	CV1075365	single nucleotide variant	NM_000349.3(STAR):c.64+9T>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV002488221]\|not provided [RCV001405683]	likely benign	8	38150746	38150746	Human	2	name
152110443	CV1586244	single nucleotide variant	NM_000349.3(STAR):c.64+9T>G	not provided [RCV002134412]	likely benign	8	38150746	38150746	Human		name
152111915	CV1635031	single nucleotide variant	NM_000349.3(STAR):c.64+7G>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV002486800]\|not provided [RCV002096968]	likely benign	8	38150748	38150748	Human	2	name
152057298	CV1647411	single nucleotide variant	NM_000349.3(STAR):c.64+7G>A	not provided [RCV002208248]	likely benign	8	38150748	38150748	Human		name
11633632	CV305147	single nucleotide variant	NM_000349.3(STAR):c.*913C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000353839]	uncertain significance	8	38143360	38143360	Human	2	name
11651571	CV305163	single nucleotide variant	NM_000349.3(STAR):c.*817C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000299920]	uncertain significance	8	38143456	38143456	Human	2	name
11655280	CV305171	single nucleotide variant	NM_000349.3(STAR):c.*348C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000324387]	uncertain significance	8	38143925	38143925	Human	2	name
11633925	CV305173	single nucleotide variant	NM_000349.3(STAR):c.*230A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000379432]	uncertain significance	8	38144043	38144043	Human	2	name
11632621	CV305174	single nucleotide variant	NM_000349.3(STAR):c.*116T>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000270862]\|not provided [RCV004696071]	uncertain significance	8	38144157	38144157	Human	2	name
11659566	CV308906	single nucleotide variant	NM_000349.3(STAR):c.*796A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000359307]	uncertain significance	8	38143477	38143477	Human	2	name
11645283	CV308937	single nucleotide variant	NM_000349.3(STAR):c.*556A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000264518]	uncertain significance	8	38143717	38143717	Human	2	name
11663517	CV308948	single nucleotide variant	NM_000349.2(STAR):c.-249C>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000396536]	uncertain significance	8	38151067	38151067	Human	2	name
11633104	CV314150	single nucleotide variant	NM_000349.3(STAR):c.*981A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000311188]	uncertain significance	8	38143292	38143292	Human	2	name
11634102	CV314153	single nucleotide variant	NM_000349.3(STAR):c.*987A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000396171]	benign\|likely benign	8	38143286	38143286	Human	2	name
11632533	CV314155	single nucleotide variant	NM_000349.3(STAR):c.*818G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000263470]	uncertain significance	8	38143455	38143455	Human	2	name
11663471	CV314160	deletion	NM_000349.3(STAR):c.*967del	Congenital adrenal hyperplasia [RCV000396156]	benign	8	38143306	38143306	Human	2	name
11651463	CV314161	deletion	NM_000349.3(STAR):c.*948del	Congenital adrenal hyperplasia [RCV000298963]	uncertain significance	8	38143325	38143325	Human	2	name
11632982	CV314171	single nucleotide variant	NM_000349.2(STAR):c.-255G>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000301699]	uncertain significance	8	38151073	38151073	Human	2	name
596920613	CV3533981	single nucleotide variant	NM_000349.3(STAR):c.64+5G>A	not specified [RCV004783199]	uncertain significance	8	38150750	38150750	Human		name
13788593	CV544809	single nucleotide variant	NM_000349.3(STAR):c.64+2T>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000674046]	likely pathogenic	8	38150753	38150753	Human	2	name
13789336	CV544814	single nucleotide variant	NM_000349.3(STAR):c.64+1G>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000665946]\|STAR-related disorder [RCV003411572]\|not provided [RCV000804772]	pathogenic	8	38150754	38150754	Human	2	name
28870497	CV899439	single nucleotide variant	NM_000349.3(STAR):c.*930C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163549]	uncertain significance	8	38143343	38143343	Human	2	name
28870500	CV899440	single nucleotide variant	NM_000349.3(STAR):c.*897C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163550]	uncertain significance	8	38143376	38143376	Human	2	name
28871174	CV899441	single nucleotide variant	NM_000349.3(STAR):c.*880C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163845]	uncertain significance	8	38143393	38143393	Human	2	name
28871177	CV899442	single nucleotide variant	NM_000349.3(STAR):c.*768G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163846]	uncertain significance	8	38143505	38143505	Human	2	name
28871178	CV899443	single nucleotide variant	NM_000349.3(STAR):c.*699C>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163847]	uncertain significance	8	38143574	38143574	Human	2	name
28871180	CV899444	single nucleotide variant	NM_000349.3(STAR):c.*698C>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163848]	uncertain significance	8	38143575	38143575	Human	2	name
28871182	CV899445	single nucleotide variant	NM_000349.3(STAR):c.*688C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163849]	uncertain significance	8	38143585	38143585	Human	2	name
28906362	CV899446	single nucleotide variant	NM_000349.3(STAR):c.*550A>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001158928]	uncertain significance	8	38143723	38143723	Human	2	name
28906365	CV899447	single nucleotide variant	NM_000349.3(STAR):c.*456C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001158929]\|not provided [RCV004706044]	likely benign	8	38143817	38143817	Human	2	name
28906367	CV899448	single nucleotide variant	NM_000349.3(STAR):c.*395G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001158930]	uncertain significance	8	38143878	38143878	Human	2	name
28906369	CV899449	single nucleotide variant	NM_000349.3(STAR):c.*187T>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001158931]	uncertain significance	8	38144086	38144086	Human	2	name
28906552	CV899456	single nucleotide variant	NM_000349.2(STAR):c.-152G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001159019]	uncertain significance	8	38150970	38150970	Human	2	name
127247012	CV1055731	single nucleotide variant	NM_000349.3(STAR):c.307-1G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001826129]\|not provided [RCV001377697]	likely pathogenic	8	38146448	38146448	Human	2	name
127278303	CV1075356	single nucleotide variant	NM_000349.3(STAR):c.650+8G>A	not provided [RCV001408405]	likely benign	8	38145955	38145955	Human		name
127250299	CV1075357	single nucleotide variant	NM_000349.3(STAR):c.650+7C>A	not provided [RCV001399849]	likely benign	8	38145956	38145956	Human		name
127268677	CV1097017	deletion	NM_000349.3(STAR):c.744+8del	not provided [RCV001440863]	likely benign	8	38145214	38145214	Human		name
127256084	CV1097020	single nucleotide variant	NM_000349.3(STAR):c.650+8G>C	not provided [RCV001426740]	likely benign	8	38145955	38145955	Human		name
127301711	CV1118577	single nucleotide variant	NM_000349.3(STAR):c.744+7G>A	not provided [RCV001461463]	likely benign	8	38145215	38145215	Human		name
127320452	CV1118581	single nucleotide variant	NM_000349.3(STAR):c.651-7T>C	not provided [RCV001466919]	likely benign	8	38145322	38145322	Human		name
127298119	CV1118583	single nucleotide variant	NM_000349.3(STAR):c.466-6T>C	not provided [RCV001477831]	likely benign	8	38146153	38146153	Human		name
127323213	CV1139468	single nucleotide variant	NM_000349.3(STAR):c.650+7C>T	not provided [RCV001485178]	likely benign	8	38145956	38145956	Human		name
127295115	CV1139473	single nucleotide variant	NM_000349.3(STAR):c.306+9C>T	STAR-related disorder [RCV003980438]\|not provided [RCV001497181]	likely benign	8	38148191	38148191	Human	1	name
150497641	CV1219439	single nucleotide variant	NM_000349.3(STAR):c.65-64G>C	not provided [RCV001620108]	benign	8	38148818	38148818	Human		name
150497882	CV1281613	deletion	NM_000349.3(STAR):c.65-59del	not provided [RCV001717922]	benign	8	38148813	38148813	Human		name
150545079	CV1315410	single nucleotide variant	NM_000349.3(STAR):c.650+1G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001783826]	likely pathogenic	8	38145962	38145962	Human	2	name
151884052	CV1452554	single nucleotide variant	NM_000349.3(STAR):c.650+2T>A	not provided [RCV002037475]	likely pathogenic	8	38145961	38145961	Human		name
151844808	CV1457910	single nucleotide variant	NM_000349.3(STAR):c.465+2T>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV005042543]\|not provided [RCV001936563]	pathogenic\|likely pathogenic	8	38146287	38146287	Human	2	name
152142196	CV1526634	single nucleotide variant	NM_000349.3(STAR):c.179-5T>C	not provided [RCV002084308]	likely benign	8	38148332	38148332	Human		name
152098501	CV1530776	single nucleotide variant	NM_000349.3(STAR):c.65-10C>A	not provided [RCV002132951]	likely benign	8	38148764	38148764	Human		name
152115865	CV1553949	single nucleotide variant	NM_000349.3(STAR):c.466-4G>A	not provided [RCV002117178]	likely benign	8	38146151	38146151	Human		name
152138225	CV1563498	single nucleotide variant	NM_000349.3(STAR):c.465+8A>G	not provided [RCV002200236]	likely benign	8	38146281	38146281	Human		name
152093145	CV1571474	single nucleotide variant	NM_000349.3(STAR):c.307-9C>T	not provided [RCV002150850]	likely benign	8	38146456	38146456	Human		name
152042605	CV1619666	single nucleotide variant	NM_000349.3(STAR):c.745-9C>T	not provided [RCV002188459]	likely benign	8	38144395	38144395	Human		name
155937683	CV1868127	single nucleotide variant	NM_000349.3(STAR):c.306+1G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV002510254]\|STAR-related disorder [RCV004731276]\|not provided [RCV002571585]	likely pathogenic	8	38148199	38148199	Human	2	name
156414060	CV1915650	single nucleotide variant	NM_000349.3(STAR):c.650+8G>T	not provided [RCV002588383]	likely benign	8	38145955	38145955	Human		name
156308834	CV1928173	single nucleotide variant	NM_000349.3(STAR):c.64+19A>C	not provided [RCV002648036]	likely benign	8	38150736	38150736	Human		name
156306685	CV1999869	single nucleotide variant	NM_000349.3(STAR):c.179-4C>T	not provided [RCV002671415]	likely benign	8	38148331	38148331	Human		name
156193983	CV2066505	single nucleotide variant	NM_000349.3(STAR):c.179-7T>C	not provided [RCV002828704]	likely benign	8	38148334	38148334	Human		name
156249813	CV2147074	single nucleotide variant	NM_000349.3(STAR):c.650+9G>A	not provided [RCV003008404]	likely benign	8	38145954	38145954	Human		name
156308208	CV2167777	single nucleotide variant	NM_000349.3(STAR):c.651-5G>A	not provided [RCV003045886]	likely benign	8	38145320	38145320	Human		name
156073036	CV2172741	single nucleotide variant	NM_000349.3(STAR):c.307-9C>A	not provided [RCV003053776]	likely benign	8	38146456	38146456	Human		name
156238000	CV2183828	deletion	NM_000349.3(STAR):c.466-9del	not provided [RCV003059554]	likely benign	8	38146156	38146156	Human		name
8560822	CV24029	duplication	NM_000349.3(STAR):c.178+2dup	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000009553]	pathogenic	8	38148638	38148639	Human	2	name
405055792	CV2890331	single nucleotide variant	NM_000349.3(STAR):c.64+19A>G	not provided [RCV003580053]	likely benign	8	38150736	38150736	Human		name
402498277	CV2906071	single nucleotide variant	NM_000349.3(STAR):c.65-10C>T	not provided [RCV003573650]	likely benign	8	38148764	38148764	Human		name
405070005	CV2933298	single nucleotide variant	NM_000349.3(STAR):c.307-1G>C	not provided [RCV003581057]	likely pathogenic	8	38146448	38146448	Human		name
405239155	CV2996850	single nucleotide variant	NM_000349.3(STAR):c.307-7C>T	not provided [RCV003718725]	likely benign	8	38146454	38146454	Human		name
405000044	CV3005307	single nucleotide variant	NM_000349.3(STAR):c.306+1G>T	not provided [RCV003693085]	likely pathogenic	8	38148199	38148199	Human		name
405163219	CV3017853	single nucleotide variant	NM_000349.3(STAR):c.745-6C>T	not provided [RCV003704047]	likely benign	8	38144392	38144392	Human		name
405162811	CV3021661	single nucleotide variant	NM_000349.3(STAR):c.307-8T>C	not provided [RCV003704023]	likely benign	8	38146455	38146455	Human		name
405141153	CV3026290	single nucleotide variant	NM_000349.3(STAR):c.65-11C>G	not provided [RCV003702517]	likely benign	8	38148765	38148765	Human		name
11633996	CV305179	single nucleotide variant	NM_000349.3(STAR):c.466-5G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000386225]\|STAR-related disorder [RCV004755903]\|not provided [RCV000898475]\|not specified [RCV000436485]	benign\|likely benign\|uncertain significance	8	38146152	38146152	Human	2	name
405194329	CV3066341	single nucleotide variant	NM_000349.3(STAR):c.64+13G>A	not provided [RCV003729971]	likely benign	8	38150742	38150742	Human		name
11633411	CV308947	single nucleotide variant	NM_000349.3(STAR):c.178+9T>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000335570]\|STAR-related disorder [RCV003902416]\|not provided [RCV001438234]	likely benign\|uncertain significance	8	38148632	38148632	Human	2	name
11634289	CV314123	single nucleotide variant	NM_000349.3(STAR):c.*1524A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000406235]	benign	8	38142749	38142749	Human	2	name
11650112	CV314138	deletion	NM_000349.3(STAR):c.*1384del	Congenital adrenal hyperplasia [RCV000291009]	uncertain significance	8	38142889	38142889	Human	2	name
11633538	CV314140	single nucleotide variant	NM_000349.3(STAR):c.*1122T>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000346141]	uncertain significance	8	38143151	38143151	Human	2	name
11633519	CV314147	single nucleotide variant	NM_000349.3(STAR):c.*1543C>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000344827]	uncertain significance	8	38142730	38142730	Human	2	name
405192564	CV3157203	deletion	NM_000349.3(STAR):c.306+1del	not provided [RCV003859891]	pathogenic	8	38148199	38148199	Human		name
405136480	CV3160244	single nucleotide variant	NM_000349.3(STAR):c.65-14A>G	not provided [RCV003855059]	likely benign	8	38148768	38148768	Human		name
405243651	CV3164793	single nucleotide variant	NM_000349.3(STAR):c.64+14G>A	not provided [RCV003867874]	likely benign	8	38150741	38150741	Human		name
402519703	CV3175301	single nucleotide variant	NM_000349.3(STAR):c.307-5G>A	not provided [RCV003879584]	likely benign	8	38146452	38146452	Human		name
597651981	CV3722717	single nucleotide variant	NM_000349.3(STAR):c.744+1G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV005041171]	likely pathogenic	8	38145221	38145221	Human	2	name
597735824	CV3722721	single nucleotide variant	NM_000349.3(STAR):c.651-2A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV005051618]	likely pathogenic	8	38145317	38145317	Human	2	name
13469727	CV441231	single nucleotide variant	NM_000349.3(STAR):c.745-1G>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001834677]\|not provided [RCV000516306]	likely pathogenic	8	38144387	38144387	Human	2	name
13784776	CV544418	single nucleotide variant	NM_000349.3(STAR):c.179-2A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000671263]	likely pathogenic	8	38148329	38148329	Human	2	name
13788236	CV544420	single nucleotide variant	NM_000349.3(STAR):c.178+1G>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000673860]\|not provided [RCV003558526]	likely pathogenic	8	38148640	38148640	Human	2	name
13789306	CV544721	single nucleotide variant	NM_000349.3(STAR):c.651-1G>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000674443]	likely pathogenic	8	38145316	38145316	Human	2	name
28908564	CV899435	single nucleotide variant	NM_000349.3(STAR):c.*1557A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001160164]	uncertain significance	8	38142716	38142716	Human	2	name
28908566	CV899436	single nucleotide variant	NM_000349.3(STAR):c.*1513C>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001160165]	uncertain significance	8	38142760	38142760	Human	2	name
28870489	CV899437	single nucleotide variant	NM_000349.3(STAR):c.*1473G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163547]	uncertain significance	8	38142800	38142800	Human	2	name
28870493	CV899438	single nucleotide variant	NM_000349.3(STAR):c.*1472C>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163548]	uncertain significance	8	38142801	38142801	Human	2	name
28871419	CV900484	single nucleotide variant	NM_000349.3(STAR):c.178+7G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163946]\|not provided [RCV001407453]	likely benign\|uncertain significance	8	38148634	38148634	Human	2	name
150332964	CV1171850	single nucleotide variant	NM_000349.3(STAR):c.650+95C>G	not provided [RCV001539250]	likely benign	8	38145868	38145868	Human		name
150428447	CV1187344	single nucleotide variant	NM_000349.3(STAR):c.306+54G>A	not provided [RCV001562280]	likely benign	8	38148146	38148146	Human		name
150498167	CV1281822	single nucleotide variant	NM_000349.3(STAR):c.466-68C>A	not provided [RCV001717970]	benign	8	38146215	38146215	Human		name
152072241	CV1643699	single nucleotide variant	NM_000349.3(STAR):c.466-11T>C	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV005042726]\|not provided [RCV002111612]	likely benign\|uncertain significance	8	38146158	38146158	Human	2	name
156098249	CV2007525	single nucleotide variant	NM_000349.3(STAR):c.651-10C>T	not provided [RCV002695204]	likely benign	8	38145325	38145325	Human		name
405045913	CV2859742	single nucleotide variant	NM_000349.3(STAR):c.650+10G>C	not provided [RCV003579324]	likely benign	8	38145953	38145953	Human		name
405199721	CV2876831	single nucleotide variant	NM_000349.3(STAR):c.744+20G>C	not provided [RCV003551171]	likely benign	8	38145202	38145202	Human		name
405053098	CV2893540	single nucleotide variant	NM_000349.3(STAR):c.466-15C>T	STAR-related disorder [RCV003954276]\|not provided [RCV003579873]\|not specified [RCV005240815]	benign\|likely benign	8	38146162	38146162	Human	1	name
405231573	CV2895673	single nucleotide variant	NM_000349.3(STAR):c.178+15T>C	not provided [RCV003555548]	likely benign	8	38148626	38148626	Human		name
405233046	CV2896495	single nucleotide variant	NM_000349.3(STAR):c.179-12C>T	not provided [RCV003555764]	likely benign	8	38148339	38148339	Human		name
402508095	CV2927907	single nucleotide variant	NM_000349.3(STAR):c.466-20G>C	not provided [RCV003574496]	likely benign	8	38146167	38146167	Human		name
405128568	CV2954924	single nucleotide variant	NM_000349.3(STAR):c.179-14G>C	not provided [RCV003668168]	likely benign	8	38148341	38148341	Human		name
405144793	CV2958980	single nucleotide variant	NM_000349.3(STAR):c.465+15G>A	not provided [RCV003673450]	likely benign	8	38146274	38146274	Human		name
402495132	CV2978428	single nucleotide variant	NM_000349.3(STAR):c.651-19T>G	not provided [RCV003714091]	likely benign	8	38145334	38145334	Human		name
405242216	CV3014545	single nucleotide variant	NM_000349.3(STAR):c.744+16G>C	not provided [RCV003719337]	likely benign	8	38145206	38145206	Human		name
405064774	CV3020783	single nucleotide variant	NM_000349.3(STAR):c.306+13G>A	not provided [RCV003697947]	likely benign	8	38148187	38148187	Human		name
405235860	CV3040723	single nucleotide variant	NM_000349.3(STAR):c.745-12C>T	not provided [RCV003712160]	likely benign	8	38144398	38144398	Human		name
405251544	CV3049846	single nucleotide variant	NM_000349.3(STAR):c.178+20G>T	not provided [RCV003721849]	likely benign	8	38148621	38148621	Human		name
405078793	CV3050225	single nucleotide variant	NM_000349.3(STAR):c.306+13G>T	not provided [RCV003716971]	likely benign	8	38148187	38148187	Human		name
405224799	CV3058234	single nucleotide variant	NM_000349.3(STAR):c.179-15C>T	not provided [RCV003733859]	likely benign	8	38148342	38148342	Human		name
405043564	CV3064140	deletion	NM_000349.3(STAR):c.465+14del	not provided [RCV003739994]	likely benign	8	38146275	38146275	Human		name
405201684	CV3066900	single nucleotide variant	NM_000349.3(STAR):c.744+18G>A	not provided [RCV003730791]	likely benign	8	38145204	38145204	Human		name
405044192	CV3074165	single nucleotide variant	NM_000349.3(STAR):c.465+17T>G	not provided [RCV003740065]	likely benign	8	38146272	38146272	Human		name
405044926	CV3074254	single nucleotide variant	NM_000349.3(STAR):c.745-19C>G	not provided [RCV003740101]	likely benign	8	38144405	38144405	Human		name
405235748	CV3079348	single nucleotide variant	NM_000349.3(STAR):c.306+13G>C	not provided [RCV003735802]	likely benign	8	38148187	38148187	Human		name
405049593	CV3079955	single nucleotide variant	NM_000349.3(STAR):c.745-17C>A	not provided [RCV003740431]	likely benign	8	38144403	38144403	Human		name
405244864	CV3080387	single nucleotide variant	NM_000349.3(STAR):c.745-16C>T	not provided [RCV003738001]	likely benign	8	38144402	38144402	Human		name
405113473	CV3118694	single nucleotide variant	NM_000349.3(STAR):c.744+19G>A	not provided [RCV003813922]	likely benign	8	38145203	38145203	Human		name
405194777	CV3128519	single nucleotide variant	NM_000349.3(STAR):c.650+18C>T	not provided [RCV003821256]	likely benign	8	38145945	38145945	Human		name
405051594	CV3150912	single nucleotide variant	NM_000349.3(STAR):c.465+10G>A	not provided [RCV003849516]	likely benign	8	38146279	38146279	Human		name
405218750	CV3161047	single nucleotide variant	NM_000349.3(STAR):c.178+17C>T	not provided [RCV003863109]	likely benign	8	38148624	38148624	Human		name
405238210	CV3166948	single nucleotide variant	NM_000349.3(STAR):c.650+20C>A	not provided [RCV003854203]	likely benign	8	38145943	38145943	Human		name
405090245	CV3167848	single nucleotide variant	NM_000349.3(STAR):c.650+16G>A	not provided [RCV003852238]	likely benign	8	38145947	38145947	Human		name
405255039	CV3175608	single nucleotide variant	NM_000349.3(STAR):c.744+15A>G	not provided [RCV003871875]	likely benign	8	38145207	38145207	Human		name
597835390	CV3828206	single nucleotide variant	NM_000349.3(STAR):c.744+12G>A	not provided [RCV005171098]	likely benign	8	38145210	38145210	Human		name
13504329	CV441233	single nucleotide variant	NM_000349.3(STAR):c.465+20A>G	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001809464]\|not provided [RCV001653881]\|not specified [RCV000518572]	benign	8	38146269	38146269	Human	2	name
13788403	CV544739	single nucleotide variant	NM_000349.3(STAR):c.466-11T>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000673944]	conflicting interpretations of pathogenicity\|uncertain significance	8	38146158	38146158	Human	2	name
15170328	CV744360	single nucleotide variant	NM_000349.3(STAR):c.306+10G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163636]\|not provided [RCV000905242]	likely benign\|uncertain significance	8	38148190	38148190	Human	2	name
28908780	CV900482	single nucleotide variant	NM_000349.3(STAR):c.650+13G>T	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001160265]\|not provided [RCV003558729]	benign\|uncertain significance	8	38145950	38145950	Human	2	name
28870724	CV900483	single nucleotide variant	NM_000349.3(STAR):c.179-14G>A	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV001163637]\|not provided [RCV001354114]	benign\|uncertain significance	8	38148341	38148341	Human	2	name
150427518	CV1187343	single nucleotide variant	NM_000349.3(STAR):c.307-157G>A	not provided [RCV001561029]	likely benign	8	38146604	38146604	Human		name
150431279	CV1206296	single nucleotide variant	NM_000349.3(STAR):c.178+113C>T	not provided [RCV001580945]	likely benign	8	38148528	38148528	Human		name
150463670	CV1252555	deletion	NM_000349.3(STAR):c.744+212del	not provided [RCV001669878]	benign	8	38145010	38145010	Human		name
405278303	CV3216566	single nucleotide variant	NM_020759.3(STARD9):c.560-6C>T	STARD9-related disorder [RCV003954476]	likely benign	15	42651010	42651010	Human		name
150506655	CV1210976	single nucleotide variant	NM_020759.3(STARD9):c.1254+4T>G	STARD9-related disorder [RCV003983993]\|not provided [RCV001596094]	benign	15	42665334	42665334	Human		name
151662507	CV1333163	single nucleotide variant	NM_020759.3(STARD9):c.1771-2A>T	not provided [RCV001837396]	uncertain significance	15	42675870	42675870	Human		name
153000706	CV1683820	deletion	NM_000349.3(STAR):c.65-12_68del	not provided [RCV002254439]	pathogenic	8	38148751	38148766	Human		name
11635493	CV308905	duplication	NM_000349.3(STAR):c.965_967dup	Congenital adrenal hyperplasia [RCV000351952]	uncertain significance	8	38143305	38143306	Human	2	name
13790141	CV544709	deletion	NM_000349.3(STAR):c.745-1_757del	Congenital lipoid adrenal hyperplasia due to STAR deficency [RCV000674882]	likely pathogenic	8	38144374	38144387	Human	2	name
15157359	CV779785	single nucleotide variant	NM_020759.3(STARD9):c.13372+9C>A	not provided [RCV000969293]	benign	15	42716773	42716773	Human		name
21074613	CV797130	single nucleotide variant	NM_020759.3(STARD9):c.13147-3C>A	not provided [RCV000995308]	uncertain significance	15	42695740	42695740	Human		name
15176305	CV778114	single nucleotide variant	NM_020759.3(STARD9):c.13372+10G>A	not provided [RCV000950794]	benign	15	42716774	42716774	Human		name
8587588	CV122219	single nucleotide variant	NM_014725.4(STARD8):c.-79-10343C>T	Lung cancer [RCV000102739]	uncertain significance	X	68702571	68702571	Human		name
151745077	CV1501652	deletion	NM_000349.3(STAR):c.466-3_466-1del	not provided [RCV002042640]	likely pathogenic	8	38146148	38146150	Human		name
8582779	CV117335	single nucleotide variant	NM_178006.3(STARD13):c.170-35549G>A	Lung cancer [RCV000097856]	uncertain significance	13	33203171	33203171	Human		name
8582780	CV117336	single nucleotide variant	NM_178006.3(STARD13):c.169+48719C>T	Lung cancer [RCV000097857]	uncertain significance	13	33236751	33236751	Human		name
8582782	CV117338	single nucleotide variant	NM_001243476.2(STARD13):c.-421+706C>G	Lung cancer [RCV000097859]	uncertain significance	13	33675972	33675972	Human		name
151891744	CV1394493	indel	NM_000349.3(STAR):c.745-1_745delinsAA	not provided [RCV002039226]	likely pathogenic	8	38144386	38144387	Human		name
8580238	CV114668	single nucleotide variant	NR_040093.1(STARD4-AS1):n.284-36251A>T	Lung cancer [RCV000095191]	uncertain significance	5	111633168	111633168	Human		name
150481899	CV1279856	deletion	NM_000349.3(STAR):c.744+211_744+212del	not provided [RCV001714929]	benign	8	38145010	38145011	Human		name
8582781	CV117337	single nucleotide variant	NM_001243476.2(STARD13):c.-105-61478C>A	Lung cancer [RCV000097858]	uncertain significance	13	33585850	33585850	Human		name
15099279	CV622967	microsatellite	NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]	Epilepsy, familial adult myoclonic, 2 [RCV000856832]	pathogenic	2	96197066	96200315	Human		name
8645565	CV104973	single nucleotide variant	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4-related disorder [RCV001849310]\|Cone-rod dystrophy 3 [RCV000850520]\|Cone-rod dystrophy 3 [RCV001353025]\|Cone-rod dystrophy 3 [RCV002498452]\|Retinal dystrophy [RCV000504951]\|Retinitis pigmentosa 19 [RCV002250560]\|Retinitis pigmentosa [RCV001723664]\|Severe early-childhood-onset retinal dystrophy ... (more) [RCV000408597]\|Stargardt disease 3 [RCV004558305]\|Stargardt disease [RCV003324506]\|not provided [RCV000085428]	pathogenic\|likely pathogenic\|not provided	1	94062710	94062710	Human	11	trait , alternate_id
8645869	CV105279	single nucleotide variant	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4-related disorder [RCV001097975]\|ABCA4-related retinopathy [RCV005357537]\|Age related macular degeneration 2 [RCV001197336]\|Cone-Rod Dystrophy, Recessive [RCV000293913]\|Cone-rod dystrophy 3 [RCV001262623]\|Macular degeneration [RCV000391356]\|Retinal dystrophy [RCV004815126]\|Retinitis Pigmentosa, ... (more) Recessive [RCV000348932]\|Retinitis pigmentosa [RCV001723669]\|Severe early-childhood-onset retinal dystrophy [RCV000721173]\|Stargardt Disease, Recessive [RCV000309306]\|Stargardt disease [RCV001002812]\|not provided [RCV000085744]\|not specified [RCV000178424]	likely pathogenic\|established risk allele\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|other\|not provided	1	94010911	94010911	Human	12	trait , alternate_id
8645882	CV105292	single nucleotide variant	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4-related disorder [RCV000778997]\|Age related macular degeneration 2 [RCV001196124]\|Cone-rod dystrophy 3 [RCV000332324]\|Cone-rod dystrophy 3 [RCV002498458]\|Cone-rod dystrophy 3 [RCV005357538]\|Optic atrophy [RCV004815127]\|Retinal dystrophy [RCV001074898]\|Retinitis pigmentosa 19 [RCV000210303]\|Sev ... (more) ere early-childhood-onset retinal dystrophy [RCV000210321]\|Stargardt disease [RCV000515694]\|Stargardt disease [RCV000845081]\|not provided [RCV000085757]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94010795	94010795	Human	13	trait , alternate_id
10045206	CV188992	single nucleotide variant	NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)	Autosomal recessive retinitis pigmentosa [RCV001257791]\|Retinal dystrophy [RCV004815269]\|Retinal macular dystrophy type 2 [RCV000348573]\|Retinitis pigmentosa 41 [RCV000987426]\|Retinitis pigmentosa [RCV000390528]\|Stargardt disease 4 [RCV000356757]\|Star ... (more) nt-weight:700;'>Stargardt disease 4 [RCV000765766]\|not provided [RCV000171375]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	16025218	16025218	Human	7	trait
8560170	CV22918	single nucleotide variant	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4-related disorder [RCV004532312]\|Abnormal macular morphology [RCV000415097]\|Age related macular degeneration 2 [RCV001198385]\|Cone-rod dystrophy 3 [RCV000008329]\|Cone-rod dystrophy 3 [RCV001535670]\|Cone-rod dystrophy 3 [RCV005025029]\|Cone-rod dystrophy 3 [RCV005357096]\|Cone-rod dystrophy [RCV00 ... (more) 0787768]\|Inborn genetic diseases [RCV000623365]\|Retinal dystrophy [RCV000505063]\|Retinitis pigmentosa 19 [RCV003224856]\|Retinitis pigmentosa [RCV000787487]\|Severe early-childhood-onset retinal dystrophy [RCV000008328]\|Stargardt disease 3 [RCV004558239]\|Stargardt disease [RCV000787486]\|not provided [RCV000085494]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|low penetrance\|no classifications from unflagged records\|not provided	1	94051698	94051698	Human	19	trait , alternate_id
8560175	CV22923	single nucleotide variant	NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	ABCA4-related disorder [RCV000778139]\|Cone dystrophy [RCV000504806]\|Cone-Rod Dystrophy, Recessive [RCV000285333]\|Cone-rod dystrophy 3 [RCV004783720]\|Macular degeneration [RCV000393726]\|Retinal dystrophy [RCV001075661]\|Retinitis Pigmentosa, Recessive [RCV000393715]\|Retinitis pigmentosa [RCV000787769] ... (more) \|Severe early-childhood-onset retinal dystrophy [RCV000008335]\|Stargardt Disease, Recessive [RCV000340261]\|Stargardt disease [RCV002470704]\|not provided [RCV000078671]\|not specified [RCV000259072]	pathogenic\|likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records\|not provided	1	94001992	94001992	Human	15	trait , alternate_id
8560188	CV22937	single nucleotide variant	NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	Cone-rod dystrophy 3 [RCV000179293]\|Cone-rod dystrophy 3 [RCV000763050]\|Retinal dystrophy [RCV001074780]\|Severe early-childhood-onset retinal dystrophy [RCV000008355]\|Stargardt disease 3 [RCV004558240]\|Stargardt disease [RCV ... (more) 000787521]\|not provided [RCV000085812]	pathogenic\|likely pathogenic\|not provided	1	94098928	94098928	Human	9	trait , alternate_id
11598651	CV237685	single nucleotide variant	NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	Cone-rod dystrophy 3 [RCV004796120]\|Cone-rod dystrophy [RCV000787491]\|Macular dystrophy [RCV000787492]\|Retinal dystrophy [RCV001074886]\|Retinitis pigmentosa 19 [RCV005252130]\|Retinitis pigmentosa [RCV000787770]\|Severe early-childhood-onset retinal dystrophy [RCV000408500]\|Star ... (more) 0;'>Stargardt disease 3 [RCV004558582]\|Stargardt disease [RCV000787490]\|not provided [RCV000413621]	pathogenic	1	94046943	94046943	Human	15	trait , alternate_id
11578307	CV237686	single nucleotide variant	NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)	Cone-Rod Dystrophy, Recessive [RCV000278622]\|Cone-rod dystrophy 3 [RCV005025374]\|Macular degeneration [RCV000338922]\|Optic atrophy [RCV004816397]\|Retinal dystrophy [RCV004816396]\|Retinitis Pigmentosa, Recessive [RCV000323631]\|Severe early-childhood-onset retinal dystrophy [RCV000408538]\|Star ... (more) 'font-weight:700;'>Stargardt Disease, Recessive [RCV000373695]\|Stargardt disease [RCV005418022]\|not provided [RCV000425865]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94046962	94046962	Human	14	trait , alternate_id
11577626	CV267624	single nucleotide variant	NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	ABCA4-related disorder [RCV001102037]\|Cone-Rod Dystrophy, Recessive [RCV000328209]\|Macular degeneration [RCV000385092]\|Retinal dystrophy [RCV001073584]\|Retinitis Pigmentosa, Recessive [RCV000270788]\|Severe early-childhood-onset retinal dystrophy [RCV000505101]\|Star ... (more) an>gardt Disease, Recessive [RCV000264059]\|Stargardt disease [RCV000844930]\|not provided [RCV000512657]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94077712	94077712	Human	8	trait , alternate_id
11586427	CV294078	single nucleotide variant	NM_006017.3(PROM1):c.631-14T>C	Cone-rod dystrophy 12 [RCV000314928]\|Retinal macular dystrophy type 2 [RCV000287975]\|Retinitis pigmentosa [RCV000396849]\|Stargardt disease 4 [RCV000345306]\|Stargardt disease 4 [RCV002502339]\|not provided [RCV001518834]	benign\|likely benign	4	16024372	16024372	Human	5	trait
11584378	CV297522	single nucleotide variant	NM_006017.3(PROM1):c.181A>G (p.Ile61Val)	Cone-rod dystrophy 12 [RCV000273204]\|Retinal macular dystrophy type 2 [RCV000308324]\|Retinitis pigmentosa [RCV000400360]\|Stargardt disease 4 [RCV000363045]\|Stargardt disease 4 [RCV005398476]\|not provided [RCV001439949]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	16075726	16075726	Human	5	trait
11649817	CV297621	single nucleotide variant	NM_006017.3(PROM1):c.-127A>G	Cone-rod dystrophy 12 [RCV000290663]\|Retinal macular dystrophy type 2 [RCV000289358]\|Retinitis pigmentosa [RCV000384989]\|Stargardt disease 4 [RCV000344310]\|Stargardt disease 4 [RCV002480212]	uncertain significance	4	16076033	16076033	Human	5	trait
14746749	CV672055	single nucleotide variant	NM_006017.3(PROM1):c.2112C>T (p.Arg704=)	Cone-rod dystrophy 12 [RCV001146426]\|Retinal macular dystrophy type 2 [RCV001146425]\|Retinitis pigmentosa [RCV001146427]\|Stargardt disease 4 [RCV001146424]\|Stargardt disease [RCV000844932]\|not provided [RCV000908779]	likely benign\|uncertain significance\|not provided	4	15987681	15987681	Human	6	trait , alternate_id
8645528	CV104937	deletion	NM_000350.3(ABCA4):c.1344del (p.Met448fs)	Severe early-childhood-onset retinal dystrophy [RCV002509208]\|not provided [RCV000085390]	pathogenic\|not provided	1	94078602	94078602	Human	2	alternate_id
8645790	CV105200	single nucleotide variant	NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	ABCA4-related disorder [RCV000314956]\|Cone-Rod Dystrophy, Recessive [RCV000335992]\|Cone-rod dystrophy 3 [RCV001005005]\|Cone-rod dystrophy [RCV000787778]\|Retinal dystrophy [RCV000505175]\|Retinitis Pigmentosa, Recessive [RCV000407014]\|Severe early-childhood-onset retinal dystrophy [RCV002509209]\|Star ... (more) style='font-weight:700;'>Stargardt disease [RCV000787502]\|not provided [RCV000085664]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94021934	94021934	Human	9	alternate_id
8560185	CV22934	single nucleotide variant	ABCA4, IVS13AS, G-A, -1	Stargardt disease 1 [RCV000008351]\|Retinitis pigmentosa 19 [RCV000008352]	pathogenic				Human		alternate_id
8560187	CV22936	single nucleotide variant	ABCA4, IVS5AS, A-G, -2	Stargardt disease 1 [RCV000008354]	pathogenic				Human		alternate_id
126737789	CV1003044	single nucleotide variant	NM_000350.3(ABCA4):c.4217A>G (p.His1406Arg)	Severe early-childhood-onset retinal dystrophy [RCV005235564]\|not provided [RCV001324844]	pathogenic\|likely pathogenic\|uncertain significance	1	94031032	94031032	Human	2	alternate_id
126772646	CV1003053	single nucleotide variant	NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)	Cone-rod dystrophy 3 [RCV002499633]\|not provided [RCV001323880]	uncertain significance	1	94047009	94047009	Human	1	alternate_id
8642841	CV101825	single nucleotide variant	NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)	Achromatopsia 3 [RCV000988077]\|Achromatopsia [RCV001831882]\|Severe early-childhood-onset retinal dystrophy [RCV000373837]\|not provided [RCV001522472]\|not specified [RCV000081979]	benign	8	86654023	86654023	Human	6	alternate_id
126770069	CV1023523	single nucleotide variant	NM_000350.3(ABCA4):c.5324T>A (p.Ile1775Asn)	Severe early-childhood-onset retinal dystrophy [RCV004563030]\|not provided [RCV001344272]	pathogenic\|likely pathogenic\|uncertain significance	1	94014679	94014679	Human	2	alternate_id
126736032	CV1023539	single nucleotide variant	NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu)	Cone-rod dystrophy 3 [RCV005023077]\|not provided [RCV001350170]\|not specified [RCV004699327]	likely pathogenic\|uncertain significance	1	94042841	94042841	Human	1	alternate_id
126770372	CV1023553	single nucleotide variant	NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser)	Stargardt disease [RCV002469377]\|not provided [RCV001344435]	likely pathogenic\|likely benign\|uncertain significance	1	94079360	94079360	Human	1	alternate_id
126753432	CV1036047	deletion	NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del	Severe early-childhood-onset retinal dystrophy [RCV001353006]	likely pathogenic				Human	2	alternate_id
126753426	CV1036052	single nucleotide variant	NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu)	Severe early-childhood-onset retinal dystrophy [RCV001353004]	likely pathogenic	1	93996194	93996194	Human	2	alternate_id
126753440	CV1036053	single nucleotide variant	NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)	Severe early-childhood-onset retinal dystrophy [RCV001353009]	likely pathogenic	1	94000887	94000887	Human	2	alternate_id
126753387	CV1036054	indel	NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis)	Severe early-childhood-onset retinal dystrophy [RCV001352983]	likely pathogenic	1	94001057	94001065	Human		alternate_id
126753404	CV1036055	single nucleotide variant	NM_000350.3(ABCA4):c.6282+1G>C	Retinal dystrophy [RCV004815443]\|Severe early-childhood-onset retinal dystrophy [RCV001352994]	likely pathogenic	1	94001857	94001857	Human	4	alternate_id
126753401	CV1036056	single nucleotide variant	NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)	Severe early-childhood-onset retinal dystrophy [RCV001352992]\|not provided [RCV002548492]\|not specified [RCV004699329]	pathogenic\|likely pathogenic\|uncertain significance	1	94005466	94005466	Human	2	alternate_id
126753453	CV1036057	single nucleotide variant	NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)	Severe early-childhood-onset retinal dystrophy [RCV001353016]	likely pathogenic	1	94007715	94007715	Human	2	alternate_id
126753446	CV1036058	microsatellite	NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs)	Severe early-childhood-onset retinal dystrophy [RCV001353012]	likely pathogenic	1	94008823	94008824	Human		alternate_id
126753502	CV1036059	deletion	NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del)	Severe early-childhood-onset retinal dystrophy [RCV001353046]	likely pathogenic	1	94010810	94010824	Human	2	alternate_id
126753371	CV1036060	single nucleotide variant	NM_000350.3(ABCA4):c.5461-6T>C	Severe early-childhood-onset retinal dystrophy [RCV001352975]	likely pathogenic	1	94011391	94011391	Human	2	alternate_id
126753388	CV1036061	single nucleotide variant	NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)	Severe early-childhood-onset retinal dystrophy [RCV001352984]\|not provided [RCV005094466]	pathogenic\|likely pathogenic	1	94014626	94014626	Human	2	alternate_id
126753494	CV1036062	single nucleotide variant	NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)	Retinal dystrophy [RCV004815444]\|Severe early-childhood-onset retinal dystrophy [RCV001353043]\|not provided [RCV001366508]	pathogenic\|likely pathogenic\|uncertain significance	1	94015740	94015740	Human	4	alternate_id
126753449	CV1036063	single nucleotide variant	NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)	ABCA4-related disorder [RCV004733268]\|Retinitis pigmentosa [RCV001724300]\|Severe early-childhood-onset retinal dystrophy [RCV001353015]\|not provided [RCV001379165]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94021280	94021280	Human	4	alternate_id
126753316	CV1036064	single nucleotide variant	NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)	Severe early-childhood-onset retinal dystrophy [RCV001352944]	likely pathogenic	1	94021300	94021300	Human	2	alternate_id
126753332	CV1036065	deletion	NM_000350.3(ABCA4):c.4609del (p.Thr1537fs)	Severe early-childhood-onset retinal dystrophy [RCV001352951]	likely pathogenic	1	94024979	94024979	Human	2	alternate_id
126753333	CV1036066	single nucleotide variant	NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)	Severe early-childhood-onset retinal dystrophy [RCV001352952]\|not provided [RCV001871907]	pathogenic\|likely pathogenic	1	94029601	94029601	Human	2	alternate_id
126753391	CV1036067	single nucleotide variant	NM_000350.3(ABCA4):c.3523-1G>A	Severe early-childhood-onset retinal dystrophy [RCV001352986]	likely pathogenic	1	94040128	94040128	Human	2	alternate_id
126753457	CV1036068	deletion	NM_000350.3(ABCA4):c.3323del (p.Arg1108fs)	Severe early-childhood-onset retinal dystrophy [RCV001353018]	likely pathogenic	1	94042766	94042766	Human	2	alternate_id
126753322	CV1036069	single nucleotide variant	NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)	Severe early-childhood-onset retinal dystrophy [RCV001352946]\|not provided [RCV001871906]\|not specified [RCV005408861]	pathogenic\|likely pathogenic\|uncertain significance	1	94043347	94043347	Human	2	alternate_id
126753474	CV1036070	single nucleotide variant	NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)	Severe early-childhood-onset retinal dystrophy [RCV001353029]\|not provided [RCV001871909]	pathogenic\|likely pathogenic	1	94044731	94044731	Human	2	alternate_id
126753327	CV1036071	single nucleotide variant	NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)	Severe early-childhood-onset retinal dystrophy [RCV001352949]	likely pathogenic	1	94063130	94063130	Human	2	alternate_id
126753431	CV1036074	deletion	NM_000350.3(ABCA4):c.428del (p.Pro143fs)	Severe early-childhood-onset retinal dystrophy [RCV001353005]\|not provided [RCV001871908]	pathogenic\|likely pathogenic	1	94108591	94108591	Human	2	alternate_id
126753384	CV1036075	single nucleotide variant	NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)	Severe early-childhood-onset retinal dystrophy [RCV001352982]\|not provided [RCV003490217]	likely pathogenic	1	94111556	94111556	Human	2	alternate_id
126917996	CV1040361	microsatellite	NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del)	Cone-rod dystrophy 3 [RCV005023112]\|not provided [RCV001372399]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94056684	94056686	Human		alternate_id
126908020	CV1040371	single nucleotide variant	NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)	Cone-rod dystrophy 3 [RCV002488138]\|not provided [RCV001367497]	likely benign\|uncertain significance	1	94108699	94108699	Human	1	alternate_id
8645152	CV104556	single nucleotide variant	NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	Autosomal recessive bestrophinopathy [RCV001353037]\|Cone-rod dystrophy [RCV001250317]\|PRPH2-related disorder [RCV001051727]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250316]\|Patterned macular dystrophy 1 [RCV000161145]\|Retinal dystrophy [RCV001074856]\|Retinitis pigmentosa 7 [RCV00 ... (more) 5031577]\|Retinitis pigmentosa [RCV001723663]\|Stargardt disease [RCV001250306]\|Vitelliform macular dystrophy 3 [RCV002508140]\|not provided [RCV000084969]	pathogenic\|likely pathogenic\|not provided	6	42721913	42721913	Human	16	alternate_id
8645154	CV104558	deletion	NM_000322.5(PRPH2):c.441del (p.Gly148fs)	PRPH2-related disorder [RCV001854487]\|Retinal dystrophy [RCV004815031]\|Stargardt disease [RCV001250322]\|maculopathy [RCV001003148]\|not provided [RCV000084972]	pathogenic\|not provided	6	42721894	42721894	Human	4	alternate_id
8645157	CV104561	single nucleotide variant	NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	PRPH2-related disorder [RCV001378482]\|Pigmentary retinal dystrophy [RCV001270171]\|Pigmentary retinopathy [RCV000626661]\|Retinal dystrophy [RCV001074377]\|Retinitis pigmentosa [RCV001250327]\|Stargardt disease [RCV001250326]\|not provided [RCV000084975]	pathogenic\|likely pathogenic\|not provided	6	42721866	42721866	Human	13	alternate_id
8645177	CV104582	single nucleotide variant	NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	PRPH2-related disorder [RCV001052017]\|Patterned macular dystrophy 1 [RCV001542667]\|Retinal dystrophy [RCV001074371]\|Stargardt disease [RCV001250308]\|not provided [RCV000085003]	pathogenic\|likely pathogenic\|not provided	6	42704555	42704555	Human	6	alternate_id
8645187	CV104593	single nucleotide variant	NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	Choroidal dystrophy, central areolar 2 [RCV004760371]\|Macular dystrophy [RCV000787668]\|PRPH2-related disorder [RCV001386136]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250336]\|Retinal dystrophy [RCV004815035]\|Stargardt disease [RCV001250335]\|no ... (more) t provided [RCV000085015]	pathogenic\|likely pathogenic\|not provided	6	42704478	42704478	Human	7	alternate_id
8645197	CV104603	single nucleotide variant	NM_000322.5(PRPH2):c.828+3A>T	Choroideremia [RCV001250345]\|Cone-rod dystrophy [RCV001250359]\|Doyne honeycomb retinal dystrophy [RCV001250358]\|PRPH2-related disorder [RCV001047656]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250346]\|Patterned macular dystrophy 1 [RCV001542666]\|Retinal dystrophy [RCV001073686]\|Ret ... (more) initis pigmentosa [RCV001250357]\|Stargardt disease [RCV001250344]\|Vitelliform macular dystrophy 2 [RCV001250347]\|not provided [RCV000085026]	pathogenic\|likely pathogenic\|not provided	6	42704362	42704362	Human	16	alternate_id
8645199	CV104605	single nucleotide variant	NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)	PRPH2-related disorder [RCV001438086]\|Retinal dystrophy [RCV004815038]\|Retinitis pigmentosa 7 [RCV005394359]\|Retinitis pigmentosa [RCV001161271]\|Stargardt disease [RCV001250360]\|not provided [RCV000085028]	pathogenic\|likely benign\|uncertain significance\|not provided	6	42698470	42698470	Human	13	alternate_id
8645205	CV104611	single nucleotide variant	NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	Adult-onset foveomacular vitelliform dystrophy [RCV000261808]\|Choroidal dystrophy, central areolar 2 [RCV000301680]\|Cone-rod dystrophy [RCV000406549]\|PRPH2-related disorder [RCV001066591]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250366]\|Patterned macular dystrophy 1 [RCV000298015 ... (more) ]\|Pigmentary retinal dystrophy [RCV000356624]\|Retinal dystrophy [RCV004815041]\|Retinitis pigmentosa [RCV000787872]\|Stargardt disease [RCV001250365]\|not provided [RCV000085034]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	6	42698398	42698398	Human	14	alternate_id
8645206	CV104612	single nucleotide variant	NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	Optic atrophy [RCV004815042]\|PRPH2-related disorder [RCV001462596]\|Retinal dystrophy [RCV003888461]\|Retinitis pigmentosa 7 [RCV005394360]\|Stargardt disease [RCV001250380]\|Vitelliform macular dystrophy 3 [RCV001352968]\|not provided [RCV000085036]\|not specified [R ... (more) CV001530276]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records\|not provided	6	42722241	42722241	Human	13	alternate_id
8645507	CV104916	deletion	NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)	Retinal dystrophy [RCV001075021]\|Severe early-childhood-onset retinal dystrophy [RCV000986373]\|not provided [RCV000085369]	pathogenic\|likely pathogenic\|not provided	1	94080539	94080552	Human	4	alternate_id
8645514	CV104923	single nucleotide variant	NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	ABCA4-related disorder [RCV001096640]\|Autosomal recessive retinitis pigmentosa [RCV001257823]\|Cone-rod dystrophy 3 [RCV000764205]\|Cone-rod dystrophy 3 [RCV005357535]\|Retinal dystrophy [RCV001073759]\|Severe early-childhood-onset retinal dystrophy [RCV000986372]\|not provided [RCV000085376]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94079421	94079421	Human	9	alternate_id
8645516	CV104925	single nucleotide variant	NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	Retinal dystrophy [RCV001074409]\|Retinitis pigmentosa 19 [RCV002513925]\|Retinitis pigmentosa [RCV003398695]\|Severe early-childhood-onset retinal dystrophy [RCV000152707]\|Stargardt disease 3 [RCV004558301]\|not provided [RCV000085378]	pathogenic\|not provided	1	94079339	94079339	Human	8	alternate_id
8645517	CV104926	single nucleotide variant	NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)	Retinal dystrophy [RCV004815077]\|Severe early-childhood-onset retinal dystrophy [RCV000408553]\|not provided [RCV000085379]	pathogenic\|not provided	1	94113011	94113011	Human	4	alternate_id
8645518	CV104927	single nucleotide variant	NM_000350.3(ABCA4):c.1240-14C>T	ABCA4-related disorder [RCV001096639]\|Age related macular degeneration 2 [RCV001548785]\|Cone-Rod Dystrophy, Recessive [RCV000275590]\|Cone-rod dystrophy 3 [RCV001548784]\|Macular degeneration [RCV000288568]\|Retinitis Pigmentosa, Recessive [RCV000332943]\|Retinitis pigmentosa 19 [RCV001548783]\|Severe ea ... (more) rly-childhood-onset retinal dystrophy [RCV001548782]\|Stargardt Disease, Recessive [RCV000389891]\|not provided [RCV000085380]\|not specified [RCV000173677]	benign\|not provided	1	94078720	94078720	Human	10	alternate_id
8645526	CV104935	single nucleotide variant	NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)	Retinal dystrophy [RCV000210294]\|Severe early-childhood-onset retinal dystrophy [RCV000504649]\|Stargardt disease [RCV005406817]\|not provided [RCV000085388]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94078611	94078611	Human	4	alternate_id
8645533	CV104942	single nucleotide variant	NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	ABCA4-related disorder [RCV001102041]\|Age related macular degeneration 2 [RCV001808322]\|Inborn genetic diseases [RCV000622340]\|Retinal dystrophy [RCV001074274]\|Severe early-childhood-onset retinal dystrophy [RCV003128228]\|Stargardt disease [RCV001002844]\|not pro ... (more) vided [RCV000085395]\|not specified [RCV003317086]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94077833	94077833	Human	7	alternate_id
8645543	CV104952	single nucleotide variant	NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	Macular dystrophy [RCV000505043]\|Retinal dystrophy [RCV001074843]\|Severe early-childhood-onset retinal dystrophy [RCV000408566]\|not provided [RCV000085405]	pathogenic\|likely pathogenic\|not provided	1	94063263	94063263	Human	6	alternate_id
8645546	CV104955	single nucleotide variant	NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)	ABCA4-related disorder [RCV004529882]\|Cone-rod dystrophy 3 [RCV005031583]\|Retinal dystrophy [RCV004815079]\|Severe early-childhood-onset retinal dystrophy [RCV000210980]\|Stargardt disease [RCV000826094]\|not provided [RCV000085408]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94111579	94111579	Human	8	alternate_id
8645547	CV104956	single nucleotide variant	NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)	Severe early-childhood-onset retinal dystrophy [RCV000132585]\|not provided [RCV000085409]	pathogenic\|not provided	1	94111579	94111579	Human	2	alternate_id
8645551	CV104959	single nucleotide variant	NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	ABCA4-related disorder [RCV000778263]\|Cone-rod dystrophy 3 [RCV000763048]\|Cone-rod dystrophy 3 [RCV000782281]\|Retinal dystrophy [RCV001074836]\|Retinitis pigmentosa 19 [RCV000761253]\|Stargardt disease 3 [RCV004558302]\|not provided [RCV000085413]	pathogenic\|likely pathogenic\|not provided	1	94063224	94063224	Human	9	alternate_id
8645557	CV104965	single nucleotide variant	NM_000350.3(ABCA4):c.1760+2T>G	Cone-rod dystrophy 3 [RCV005031584]\|Retinal dystrophy [RCV003888471]\|Retinitis pigmentosa 19 [RCV005252751]\|Severe early-childhood-onset retinal dystrophy [RCV000132587]\|not provided [RCV000085420]	pathogenic\|not provided	1	94063110	94063110	Human	8	alternate_id
8645561	CV104969	single nucleotide variant	NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)	Retinal dystrophy [RCV004815080]\|Severe early-childhood-onset retinal dystrophy [RCV000408487]\|not provided [RCV000085424]	likely pathogenic\|not provided	1	94062725	94062725	Human	4	alternate_id
8645564	CV104972	single nucleotide variant	NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	Cone-rod dystrophy 3 [RCV000763051]\|Retinal dystrophy [RCV001073359]\|Severe early-childhood-onset retinal dystrophy [RCV000408452]\|Stargardt disease 3 [RCV004558304]\|not provided [RCV000085427]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94111561	94111561	Human	9	alternate_id
8645568	CV104976	single nucleotide variant	NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	Retinal dystrophy [RCV001075859]\|Severe early-childhood-onset retinal dystrophy [RCV000408475]\|Stargardt disease [RCV000787762]\|not provided [RCV000085431]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94062695	94062695	Human	4	alternate_id
8645574	CV104982	single nucleotide variant	NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)	Cone-rod dystrophy 3 [RCV002498453]\|not provided [RCV000085437]	benign\|not provided	1	94062636	94062636	Human	1	alternate_id
8645577	CV104985	single nucleotide variant	NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)	Retinal dystrophy [RCV004815083]\|Retinitis pigmentosa [RCV005055575]\|Severe early-childhood-onset retinal dystrophy [RCV000408491]\|not provided [RCV000085440]	pathogenic\|likely pathogenic\|not provided	1	94062611	94062611	Human	6	alternate_id
8645582	CV104990	single nucleotide variant	NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	ABCA4-related disorder [RCV001098279]\|Cone-Rod Dystrophy, Recessive [RCV000318324]\|Macular degeneration [RCV000260757]\|Retinal dystrophy [RCV001075850]\|Retinitis Pigmentosa, Recessive [RCV000356519]\|Severe early-childhood-onset retinal dystrophy [RCV000986369]\|Star ... (more) an>gardt Disease, Recessive [RCV000353201]\|not provided [RCV000085445]\|not specified [RCV000174470]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94062587	94062587	Human	8	alternate_id
8645583	CV104991	single nucleotide variant	NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)	ABCA4-related disorder [RCV001098278]\|Cone-rod dystrophy 3 [RCV004720237]\|Cone-rod dystrophy 3 [RCV005364979]\|Retinal dystrophy [RCV001074170]\|Severe early-childhood-onset retinal dystrophy [RCV000408583]\|not provided [RCV000085446]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94062586	94062586	Human	6	alternate_id
8645584	CV104992	single nucleotide variant	NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)	Cone-rod dystrophy 3 [RCV005025146]\|Retinal dystrophy [RCV001074983]\|Retinitis pigmentosa [RCV004689454]\|not provided [RCV000085447]	pathogenic\|likely pathogenic\|not provided	1	94062581	94062581	Human	5	alternate_id
8645585	CV104993	single nucleotide variant	NM_000350.3(ABCA4):c.1937+1G>A	Cone dystrophy and rod monochromatism [RCV005417459]\|Retinal dystrophy [RCV004815084]\|Retinitis pigmentosa 19 [RCV001542645]\|See cases [RCV004584346]\|Severe early-childhood-onset retinal dystrophy [RCV000408499]\|Stargardt disease 3 [RCV004558306]\|not provided [R ... (more) CV000085448]	pathogenic\|not provided	1	94062576	94062576	Human	6	alternate_id
8645587	CV104995	single nucleotide variant	NM_000350.3(ABCA4):c.1938-1G>A	Macular dystrophy [RCV000504968]\|Retinitis pigmentosa 19 [RCV000008352]\|Severe early-childhood-onset retinal dystrophy [RCV000008351]\|not provided [RCV000085450]	pathogenic\|likely pathogenic\|not provided	1	94060760	94060760	Human	5	alternate_id
8645588	CV104996	single nucleotide variant	NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	Cone-rod dystrophy 3 [RCV002490741]\|Retinal dystrophy [RCV001074366]\|Severe early-childhood-onset retinal dystrophy [RCV000132588]\|not provided [RCV000085451]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94111546	94111546	Human	8	alternate_id
8645589	CV104997	single nucleotide variant	NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	ABCA4-related disorder [RCV004732662]\|Cone-rod dystrophy 3 [RCV000763047]\|Retinal dystrophy [RCV001074668]\|Severe early-childhood-onset retinal dystrophy [RCV000408546]\|not provided [RCV000085452]	pathogenic\|likely pathogenic\|not provided	1	94060740	94060740	Human	8	alternate_id
8645591	CV104999	single nucleotide variant	NM_000350.3(ABCA4):c.1A>G (p.Met1Val)	Abnormality of the eye [RCV001814056]\|Retinal dystrophy [RCV004815085]\|Severe early-childhood-onset retinal dystrophy [RCV000408483]\|not provided [RCV000085454]	pathogenic\|likely pathogenic\|not provided	1	94121045	94121045	Human	6	alternate_id
8645592	CV105000	deletion	NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)	Retinal dystrophy [RCV001074028]\|Severe early-childhood-onset retinal dystrophy [RCV001353038]\|not provided [RCV000085455]	pathogenic\|likely pathogenic\|not provided	1	94060691	94060692	Human	4	alternate_id
8645594	CV105002	single nucleotide variant	NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	ABCA4-related disorder [RCV004529883]\|Abnormal macular morphology [RCV000414796]\|Abnormal retinal morphology [RCV000626666]\|Age related macular degeneration 2 [RCV001198384]\|Cone-rod dystrophy 3 [RCV004796008]\|Retinal dystrophy [RCV001074514]\|Retinitis pigmentosa [RCV004586547]\|not provided [RCV0000 ... (more) 85457]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records\|not provided	1	94111537	94111537	Human	14	alternate_id
8645595	CV105003	single nucleotide variant	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4-related disorder [RCV004732663]\|Age related macular degeneration 2 [RCV001195987]\|Benign concentric annular macular dystrophy [RCV000210310]\|Cone-rod dystrophy 3 [RCV005025147]\|Leber congenital amaurosis [RCV000504983]\|Retinal dystrophy [RCV001073628]\|Severe early-childhood-onset retinal dystr ... (more) ophy [RCV000408512]\|Stargardt disease 3 [RCV004558307]\|not provided [RCV000085458]	pathogenic\|likely pathogenic\|not provided	1	94060656	94060656	Human	11	alternate_id
8645601	CV105009	single nucleotide variant	NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)	Age related macular degeneration 2 [RCV002466250]\|Retinal dystrophy [RCV004794358]\|Severe early-childhood-onset retinal dystrophy [RCV001353042]\|Stargardt disease [RCV000787776]\|not provided [RCV000085464]\|not specified [RCV001000882]	pathogenic\|likely pathogenic\|not provided	1	94111526	94111526	Human	6	alternate_id
8645603	CV105011	single nucleotide variant	NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)	Retinitis pigmentosa [RCV004782054]\|Severe early-childhood-onset retinal dystrophy [RCV000504688]\|not provided [RCV000085466]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94111517	94111517	Human	4	alternate_id
8645604	CV105012	single nucleotide variant	NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)	Retinal dystrophy [RCV001074411]\|Severe early-childhood-onset retinal dystrophy [RCV000408455]\|not provided [RCV000085467]	pathogenic\|likely pathogenic\|not provided	1	94056692	94056692	Human	4	alternate_id
8645606	CV105014	single nucleotide variant	NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)	ABCA4-related disorder [RCV004724803]\|Stargardt disease [RCV001002839]\|not provided [RCV000085469]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94056689	94056689	Human	2	alternate_id
8645608	CV105016	single nucleotide variant	NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)	ABCA4-related disorder [RCV004732664]\|Retinal dystrophy [RCV001074642]\|Retinitis pigmentosa [RCV005406818]\|Severe early-childhood-onset retinal dystrophy [RCV000408526]\|not provided [RCV000085471]	pathogenic\|likely pathogenic\|not provided	1	94056683	94056683	Human	6	alternate_id
8645616	CV105024	single nucleotide variant	NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)	Cone-rod dystrophy 3 [RCV005252127]\|Retinal dystrophy [RCV001075477]\|Stargardt disease [RCV000787774]\|not provided [RCV000085479]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94055245	94055245	Human	4	alternate_id
8645617	CV105025	single nucleotide variant	NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)	ABCA4-related disorder [RCV004732665]\|Cone-rod dystrophy 3 [RCV005025148]\|Retinal dystrophy [RCV001075705]\|Retinitis pigmentosa [RCV004586548]\|not provided [RCV000085480]	pathogenic\|not provided	1	94055237	94055237	Human	10	alternate_id
8645622	CV105030	single nucleotide variant	NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)	Optic atrophy [RCV004815087]\|Retinal dystrophy [RCV001074506]\|Severe early-childhood-onset retinal dystrophy [RCV000986366]\|not provided [RCV000085485]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94055152	94055152	Human	6	alternate_id
8645624	CV105032	single nucleotide variant	NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)	Cone-rod dystrophy 3 [RCV005025149]\|Retinal dystrophy [RCV001075467]\|Severe early-childhood-onset retinal dystrophy [RCV000504877]\|not provided [RCV000085487]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94055138	94055138	Human	8	alternate_id
8645625	CV105033	single nucleotide variant	NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)	Retinal dystrophy [RCV001073601]\|Severe early-childhood-onset retinal dystrophy [RCV000408572]\|not provided [RCV000085488]	pathogenic\|not provided	1	94055134	94055134	Human	4	alternate_id
8645636	CV105044	single nucleotide variant	NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)	ABCA4-related disorder [RCV001101956]\|Cone-rod dystrophy [RCV000787777]\|Stargardt disease [RCV002470763]\|not provided [RCV000085502]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94048910	94048910	Human	5	alternate_id
8645643	CV105051	single nucleotide variant	NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)	ABCA4-related disorder [RCV004529885]\|Retinal dystrophy [RCV001074959]\|Stargardt disease [RCV003330430]\|not provided [RCV000085510]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records\|not provided	1	94047010	94047010	Human	4	alternate_id
8645646	CV105054	single nucleotide variant	NM_000350.3(ABCA4):c.286A>C (p.Asn96His)	Severe early-childhood-onset retinal dystrophy [RCV005400423]\|not provided [RCV000085514]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94111454	94111454	Human	2	alternate_id
8645647	CV105055	single nucleotide variant	NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	Cone-rod dystrophy 3 [RCV005025150]\|Retinal dystrophy [RCV004815092]\|Severe early-childhood-onset retinal dystrophy [RCV000986376]\|not provided [RCV000085515]	pathogenic\|likely pathogenic\|not provided	1	94111454	94111454	Human	8	alternate_id
8645654	CV105062	single nucleotide variant	NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)	Cone-rod dystrophy 3 [RCV005031585]\|Severe early-childhood-onset retinal dystrophy [RCV002225080]\|not provided [RCV000085522]\|not specified [RCV000999861]	pathogenic\|likely pathogenic\|not provided	1	94046925	94046925	Human	6	alternate_id
8645655	CV105063	single nucleotide variant	NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	ABCA4-related disorder [RCV004732666]\|Cone-rod dystrophy 3 [RCV002498454]\|Retinal dystrophy [RCV000504717]\|Retinitis pigmentosa [RCV000505078]\|not provided [RCV000085523]	pathogenic\|likely pathogenic\|not provided	1	94046922	94046922	Human	10	alternate_id
8645661	CV105069	single nucleotide variant	NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)	ABCA4-related disorder [RCV004732667]\|Cone-rod dystrophy 3 [RCV005025151]\|Retinal dystrophy [RCV001074424]\|Severe early-childhood-onset retinal dystrophy [RCV000504904]\|not provided [RCV000085529]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94044697	94044697	Human	8	alternate_id
8645662	CV105070	duplication	NM_000350.3(ABCA4):c.296dup (p.Asn99fs)	Retinal dystrophy [RCV004815095]\|Severe early-childhood-onset retinal dystrophy [RCV000408568]\|not provided [RCV000085530]	pathogenic\|not provided	1	94111443	94111444	Human	4	alternate_id
8645663	CV105071	single nucleotide variant	NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	ABCA4-related disorder [RCV004529886]\|Age related macular degeneration 2 [RCV002247488]\|Cone-rod dystrophy 3 [RCV005025152]\|Macular dystrophy [RCV000505091]\|Optic atrophy [RCV004815096]\|Retinal dystrophy [RCV001073380]\|Retinitis pigmentosa 19 [RCV004699118]\|Severe early-childhood-onset retinal dystr ... (more) ophy [RCV003989317]\|not provided [RCV000085531]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94044692	94044692	Human	12	alternate_id
8645670	CV105078	single nucleotide variant	NM_000350.3(ABCA4):c.302+26A>G	Age related macular degeneration 2 [RCV001548793]\|Cone-rod dystrophy 3 [RCV001548792]\|Retinitis pigmentosa 19 [RCV001548791]\|Severe early-childhood-onset retinal dystrophy [RCV001548790]\|not provided [RCV000085538]\|not specified [RCV000247190]	benign\|not provided	1	94111412	94111412	Human	6	alternate_id
8645672	CV105080	single nucleotide variant	NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)	Severe early-childhood-onset retinal dystrophy [RCV004558308]\|not provided [RCV000085540]	pathogenic\|likely pathogenic\|not provided	1	94044622	94044622	Human	2	alternate_id
8645673	CV105081	single nucleotide variant	NM_000350.3(ABCA4):c.3050+5G>A	Cone-rod dystrophy 3 [RCV005025153]\|Retinal dystrophy [RCV001073618]\|Stargardt disease [RCV001002836]\|not provided [RCV000085541]	pathogenic\|not provided	1	94044608	94044608	Human	4	alternate_id
8645675	CV105083	single nucleotide variant	NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)	Cone-rod dystrophy 3 [RCV004796009]\|not provided [RCV000085543]	pathogenic\|not provided	1	94043471	94043471	Human	1	alternate_id
8645677	CV105085	single nucleotide variant	NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	ABCA4-related disorder [RCV004529887]\|Retinal dystrophy [RCV004815097]\|Retinitis pigmentosa [RCV004800282]\|Severe early-childhood-onset retinal dystrophy [RCV000408496]\|Stargardt disease [RCV003324507]\|not provided [RCV000085545]	pathogenic\|likely pathogenic\|not provided	1	94043462	94043462	Human	6	alternate_id
8645678	CV105086	single nucleotide variant	NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)	Retinal dystrophy [RCV004815098]\|Severe early-childhood-onset retinal dystrophy [RCV000408564]\|not provided [RCV000085546]	pathogenic\|not provided	1	94043441	94043441	Human	4	alternate_id
8645680	CV105088	single nucleotide variant	NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp)	Cone-rod dystrophy 3 [RCV005025154]\|Retinal dystrophy [RCV004815099]\|not provided [RCV000085550]	pathogenic\|likely pathogenic\|not provided	1	94043377	94043377	Human	3	alternate_id
8645681	CV105089	single nucleotide variant	NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp)	Retinal dystrophy [RCV004815100]\|Severe early-childhood-onset retinal dystrophy [RCV003992182]\|not provided [RCV000085551]	uncertain significance\|not provided	1	94043363	94043363	Human	4	alternate_id
8645688	CV105097	single nucleotide variant	NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)	ABCA4-related disorder [RCV002255094]\|Cone-rod dystrophy 3 [RCV005025155]\|Cone-rod dystrophy [RCV003324508]\|Retinal dystrophy [RCV004815102]\|Retinitis pigmentosa [RCV004689455]\|not provided [RCV000085559]	pathogenic\|likely pathogenic\|not provided	1	94042877	94042877	Human	12	alternate_id
8645691	CV105100	single nucleotide variant	NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	ABCA4-related disorder [RCV004732669]\|Abnormality of the eye [RCV001814057]\|Age related macular degeneration 2 [RCV001199228]\|Cone-rod dystrophy 3 [RCV002466427]\|Cone-rod dystrophy 3 [RCV002498455]\|Retinal dystrophy [RCV001075833]\|Retinitis pigmentosa 19 [RCV001808323]\|not provided [RCV000085562]	pathogenic\|not provided	1	94042830	94042830	Human	10	alternate_id
8645692	CV105101	single nucleotide variant	NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)	Retinal dystrophy [RCV001075184]\|Severe early-childhood-onset retinal dystrophy [RCV000408551]\|not provided [RCV000085563]	pathogenic\|likely pathogenic\|not provided	1	94042828	94042828	Human	4	alternate_id
8645693	CV105102	single nucleotide variant	NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)	Age related macular degeneration 2 [RCV001198727]\|Retinal dystrophy [RCV004815104]\|Severe early-childhood-onset retinal dystrophy [RCV000408464]\|not provided [RCV000085564]	likely pathogenic\|uncertain significance\|not provided	1	94042817	94042817	Human	6	alternate_id
8645697	CV105106	single nucleotide variant	NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	ABCA4-related disorder [RCV000779010]\|Age related macular degeneration 2 [RCV002247489]\|Cone-rod dystrophy 3 [RCV005025156]\|Cone-rod dystrophy [RCV003324509]\|Retinal dystrophy [RCV001074134]\|Retinitis pigmentosa [RCV001723665]\|Severe early-childhood-onset retinal dystrophy [RCV002051808]\|Star ... (more) ='font-weight:700;'>Stargardt disease [RCV003324510]\|not provided [RCV000085568]	pathogenic\|likely pathogenic\|not provided	1	94121014	94121014	Human	12	alternate_id
8645699	CV105108	single nucleotide variant	NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)	Retinal dystrophy [RCV001073697]\|Severe early-childhood-onset retinal dystrophy [RCV003992183]\|Stargardt disease [RCV004700403]\|not provided [RCV000085570]	pathogenic\|likely pathogenic\|not provided	1	94042766	94042766	Human	4	alternate_id
8645700	CV105109	single nucleotide variant	NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)	Retinal dystrophy [RCV004815105]\|Severe early-childhood-onset retinal dystrophy [RCV000408460]\|not provided [RCV000085571]	pathogenic\|likely pathogenic\|not provided	1	94042766	94042766	Human	4	alternate_id
8645704	CV105113	single nucleotide variant	NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	ABCA4-related disorder [RCV004732670]\|Age related macular degeneration 2 [RCV001199211]\|Cone-rod dystrophy 3 [RCV000763045]\|Cone-rod dystrophy 3 [RCV005252752]\|Retinal dystrophy [RCV001075726]\|Severe early-childhood-onset retinal dystrophy [RCV000408578]\|not provided [RCV000085576]	pathogenic\|likely pathogenic\|not provided	1	94041345	94041345	Human	8	alternate_id
8645719	CV105128	single nucleotide variant	NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)	ABCA4-related disorder [RCV001101851]\|Retinal dystrophy [RCV001075720]\|Severe early-childhood-onset retinal dystrophy [RCV000408481]\|not provided [RCV000085592]\|not specified [RCV003317087]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94037200	94037200	Human	4	alternate_id
8645720	CV105129	single nucleotide variant	NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)	Retinal dystrophy [RCV004815107]\|Severe early-childhood-onset retinal dystrophy [RCV000408535]\|not provided [RCV000085593]	pathogenic\|not provided	1	94037150	94037150	Human	4	alternate_id
8645723	CV105132	single nucleotide variant	NM_000350.3(ABCA4):c.3862+1G>A	Severe early-childhood-onset retinal dystrophy [RCV000986360]\|not provided [RCV000085596]	pathogenic\|not provided	1	94036739	94036739	Human	2	alternate_id
8645725	CV105134	single nucleotide variant	NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)	Retinal dystrophy [RCV001073602]\|Severe early-childhood-onset retinal dystrophy [RCV001727570]\|not provided [RCV000085598]	pathogenic\|not provided	1	94032008	94032008	Human	4	alternate_id
8645736	CV105145	single nucleotide variant	NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)	Retinal dystrophy [RCV003888473]\|Severe early-childhood-onset retinal dystrophy [RCV000132591]\|not provided [RCV000085609]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records\|not provided	1	94031054	94031054	Human	4	alternate_id
8645740	CV105149	single nucleotide variant	NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	Retinal dystrophy [RCV000210333]\|Severe early-childhood-onset retinal dystrophy [RCV000408501]\|not provided [RCV000085613]	pathogenic\|likely pathogenic\|uncertain significance\|other\|not provided	1	94031027	94031027	Human	4	alternate_id
8645743	CV105152	single nucleotide variant	NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	Cone-rod dystrophy 3 [RCV002490742]\|Retinal dystrophy [RCV001074847]\|Retinitis pigmentosa [RCV003155072]\|Severe early-childhood-onset retinal dystrophy [RCV000408549]\|not provided [RCV000085616]	pathogenic\|not provided	1	94031015	94031015	Human	10	alternate_id
8645745	CV105154	single nucleotide variant	NM_000350.3(ABCA4):c.4253+43G>A	ABCA4-related disorder [RCV004529888]\|Age related macular degeneration 2 [RCV001199365]\|Cone-rod dystrophy 3 [RCV005357536]\|Retinal dystrophy [RCV004815111]\|Severe early-childhood-onset retinal dystrophy [RCV001290208]\|not provided [RCV000085618]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94030953	94030953	Human	8	alternate_id
8645746	CV105155	single nucleotide variant	NM_000350.3(ABCA4):c.4253+4C>T	Inborn genetic diseases [RCV000624755]\|Retinal dystrophy [RCV001075880]\|Retinitis pigmentosa 19 [RCV005252753]\|Severe early-childhood-onset retinal dystrophy [RCV004562247]\|Stargardt disease [RCV005417461]\|not provided [RCV000085619]	pathogenic\|likely pathogenic\|not provided	1	94030992	94030992	Human	6	alternate_id
8645747	CV105156	single nucleotide variant	NM_000350.3(ABCA4):c.4253+5G>T	ABCA4-related disorder [RCV004529889]\|Cone-rod dystrophy 3 [RCV005031586]\|Retinal dystrophy [RCV001073983]\|Severe early-childhood-onset retinal dystrophy [RCV000504676]\|not provided [RCV000085620]	pathogenic\|likely pathogenic\|not provided	1	94030991	94030991	Human	8	alternate_id
8645753	CV105162	single nucleotide variant	NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)	Age related macular degeneration 2 [RCV001195926]\|Stargardt disease [RCV003330431]\|not provided [RCV000085626]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94108591	94108591	Human	2	alternate_id
8645757	CV105166	single nucleotide variant	NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)	Severe early-childhood-onset retinal dystrophy [RCV000504867]\|not provided [RCV000085630]	pathogenic\|likely pathogenic\|not provided	1	94030461	94030461	Human	2	alternate_id
8645758	CV105167	single nucleotide variant	NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	ABCA4-related disorder [RCV000779005]\|Age related macular degeneration 2 [RCV002247490]\|Cone-rod dystrophy 3 [RCV005025157]\|Retinal dystrophy [RCV001073587]\|Severe early-childhood-onset retinal dystrophy [RCV000408447]\|Stargardt disease [RCV003324511]\|not provid ... (more) ed [RCV000085631]	pathogenic\|likely pathogenic\|not provided	1	94030452	94030452	Human	8	alternate_id
8645762	CV105171	single nucleotide variant	NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	Severe early-childhood-onset retinal dystrophy [RCV001808324]\|Stargardt disease [RCV005055576]\|not provided [RCV000085635]	pathogenic\|not provided	1	94029548	94029548	Human	2	alternate_id
8645763	CV105172	single nucleotide variant	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	ABCA4-related disorder [RCV004732671]\|Age related macular degeneration 2 [RCV001198562]\|Cone-rod dystrophy 3 [RCV002498456]\|Retinal dystrophy [RCV001074852]\|Severe early-childhood-onset retinal dystrophy [RCV000408536]\|Stargardt disease [RCV001002829]\|not provid ... (more) ed [RCV000085636]	pathogenic\|likely pathogenic\|not provided	1	94029527	94029527	Human	8	alternate_id
8645764	CV105173	single nucleotide variant	NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	ABCA4-related disorder [RCV004732672]\|Cone-rod dystrophy 3 [RCV000763043]\|Cone-rod dystrophy 3 [RCV005234981]\|Cone-rod dystrophy [RCV005417462]\|Retinal dystrophy [RCV001073630]\|Retinitis pigmentosa 19 [RCV001808325]\|Severe early-childhood-onset retinal dystrophy [RCV000408472]\|Star ... (more) ht:700;'>Stargardt disease [RCV005417463]\|not provided [RCV000085637]	pathogenic\|likely pathogenic\|not provided	1	94029522	94029522	Human	11	alternate_id
8645765	CV105174	single nucleotide variant	NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)	Retinal dystrophy [RCV004815113]\|Severe early-childhood-onset retinal dystrophy [RCV000408580]\|not provided [RCV000085638]	pathogenic\|likely pathogenic\|not provided	1	94029521	94029521	Human	4	alternate_id
8645766	CV105175	single nucleotide variant	NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)	Cone-rod dystrophy 3 [RCV005025158]\|Severe early-childhood-onset retinal dystrophy [RCV002225081]\|not provided [RCV000085639]	pathogenic\|likely pathogenic\|not provided	1	94029521	94029521	Human	6	alternate_id
8645768	CV105177	single nucleotide variant	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4-related disorder [RCV000779003]\|Cone-rod dystrophy 3 [RCV005025159]\|Macular dystrophy [RCV000787763]\|Retinal dystrophy [RCV000210300]\|Retinitis pigmentosa 19 [RCV001542643]\|See cases [RCV004584347]\|Severe early-childhood-onset retinal dystrophy [RCV000177442]\|not provided [RCV000085641]	pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94029515	94029515	Human	10	alternate_id
8655064	CV105181	duplication	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	Cone-rod dystrophy 3 [RCV001004999]\|Cone-rod dystrophy [RCV002267726]\|Macular dystrophy [RCV000504962]\|Retinal dystrophy [RCV001074410]\|Retinitis pigmentosa 19 [RCV000678509]\|Retinitis pigmentosa [RCV000504708]\|Severe early-childhood-onset retinal dystrophy [RCV000210298]\|not provided [RCV000085645]	pathogenic\|likely pathogenic\|not provided	1	94029446	94029447	Human	12	alternate_id
8645772	CV105182	single nucleotide variant	NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)	Retinal dystrophy [RCV000505160]\|Severe early-childhood-onset retinal dystrophy [RCV001376334]\|not provided [RCV000085646]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94029446	94029446	Human	4	alternate_id
8645779	CV105189	single nucleotide variant	NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)	Cone-rod dystrophy 3 [RCV002272126]\|Retinal dystrophy [RCV001075709]\|Severe early-childhood-onset retinal dystrophy [RCV000408527]\|not provided [RCV000085653]	pathogenic\|likely pathogenic\|not provided	1	94103131	94103131	Human	5	alternate_id
8645780	CV105190	single nucleotide variant	NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	ABCA4-related disorder [RCV001100156]\|Retinal dystrophy [RCV004815114]\|Severe early-childhood-onset retinal dystrophy [RCV000408574]\|Stargardt disease [RCV000844929]\|not provided [RCV000085654]\|not specified [RCV000402682]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94103130	94103130	Human	4	alternate_id
8645782	CV105192	single nucleotide variant	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	Age related macular degeneration 2 [RCV001542561]\|Cone-rod dystrophy 3 [RCV005025160]\|Inborn genetic diseases [RCV000623715]\|Retinal dystrophy [RCV001075849]\|Retinitis pigmentosa 19 [RCV000210286]\|Severe early-childhood-onset retinal dystrophy [RCV000177509]\|Star ... (more) >gardt disease [RCV001002827]\|not provided [RCV000085656]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94025011	94025011	Human	9	alternate_id
8645783	CV105193	single nucleotide variant	NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	ABCA4-related disorder [RCV004529890]\|Cone-rod dystrophy 3 [RCV001535669]\|Cone-rod dystrophy 3 [RCV005025161]\|Retinal dystrophy [RCV001074286]\|Retinitis pigmentosa [RCV003235039]\|Severe early-childhood-onset retinal dystrophy [RCV000177510]\|maculopathy [RCV001002826]\|not provided [RCV000085657]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94024994	94024994	Human	12	alternate_id
8645784	CV105194	single nucleotide variant	NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)	Retinal dystrophy [RCV001075348]\|Severe early-childhood-onset retinal dystrophy [RCV000408591]\|not provided [RCV000085658]	pathogenic\|not provided	1	94121001	94121001	Human	4	alternate_id
8645785	CV105195	single nucleotide variant	NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)	Cone-rod dystrophy 3 [RCV005025162]\|Retinal dystrophy [RCV004815115]\|Severe early-childhood-onset retinal dystrophy [RCV000408504]\|not provided [RCV000085659]\|not specified [RCV001002608]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94024978	94024978	Human	8	alternate_id
8645789	CV105199	single nucleotide variant	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4-related disorder [RCV001100155]\|Abnormal retinal morphology [RCV000626667]\|Cone-rod dystrophy 3 [RCV000764207]\|Inborn genetic diseases [RCV000622993]\|Retinal dystrophy [RCV004815116]\|Severe early-childhood-onset retinal dystrophy [RCV000504910]\|not provided [RCV000085663]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94103119	94103119	Human	10	alternate_id
8645795	CV105205	single nucleotide variant	NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)	Severe early-childhood-onset retinal dystrophy [RCV001376269]\|not provided [RCV000085669]	pathogenic\|likely pathogenic\|not provided	1	94021871	94021871	Human	2	alternate_id
8645798	CV105208	single nucleotide variant	NM_000350.3(ABCA4):c.4773+48C>T	Age related macular degeneration 2 [RCV001549174]\|Cone-rod dystrophy 3 [RCV001549173]\|Retinitis pigmentosa 19 [RCV001549172]\|Severe early-childhood-onset retinal dystrophy [RCV001549171]\|not provided [RCV000085672]\|not specified [RCV000244871]	benign\|not provided	1	94021798	94021798	Human	6	alternate_id
8645800	CV105210	single nucleotide variant	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4-related disorder [RCV004732673]\|Autosomal recessive retinitis pigmentosa [RCV001257846]\|Cone-rod dystrophy 3 [RCV005025163]\|Cone-rod dystrophy [RCV005417464]\|Retinal dystrophy [RCV001074177]\|Retinitis pigmentosa 19 [RCV001808326]\|Retinitis pigmentosa [RCV003387758]\|Severe early-childhood-onset ... (more) retinal dystrophy [RCV000408465]\|Stargardt disease [RCV001002825]\|not provided [RCV000085674]	pathogenic\|likely pathogenic\|not provided	1	94021695	94021695	Human	12	alternate_id
8645801	CV105211	single nucleotide variant	NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys)	Retinal dystrophy [RCV004815117]\|Severe early-childhood-onset retinal dystrophy [RCV004595918]\|not provided [RCV000085675]	likely pathogenic\|uncertain significance\|not provided	1	94103104	94103104	Human	4	alternate_id
8645802	CV105212	deletion	NM_000350.3(ABCA4):c.4838del (p.Asp1613fs)	Retinal dystrophy [RCV001074975]\|Severe early-childhood-onset retinal dystrophy [RCV000999644]\|not provided [RCV000085676]	pathogenic\|likely pathogenic\|not provided	1	94021650	94021650	Human	4	alternate_id
8645809	CV105219	single nucleotide variant	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4-related disorder [RCV004732674]\|Cone-rod dystrophy 3 [RCV002505017]\|Cone-rod dystrophy 3 [RCV004760372]\|Leber congenital amaurosis [RCV000505114]\|Retinal dystrophy [RCV000210311]\|Severe early-childhood-onset retinal dystrophy [RCV000408519]\|Stargardt disea ... (more) se [RCV000787504]\|not provided [RCV000085683]	pathogenic\|likely pathogenic\|uncertain significance\|other\|not provided	1	94021340	94021340	Human	9	alternate_id
8645810	CV105220	single nucleotide variant	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	Cone-rod dystrophy 3 [RCV003223338]\|Cone-rod dystrophy 3 [RCV005031587]\|Retinal dystrophy [RCV000504816]\|Severe early-childhood-onset retinal dystrophy [RCV000321118]\|Stargardt disease [RCV000787505]\|not provided [RCV000085684]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94021339	94021339	Human	8	alternate_id
8645811	CV105221	single nucleotide variant	NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	Cone-rod dystrophy 3 [RCV005025164]\|Retinal dystrophy [RCV001075879]\|Retinitis pigmentosa [RCV000787506]\|Severe early-childhood-onset retinal dystrophy [RCV000986355]\|not provided [RCV000085685]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94021332	94021332	Human	10	alternate_id
8645817	CV105227	single nucleotide variant	NM_000350.3(ABCA4):c.5018+2T>C	Retinal dystrophy [RCV001074630]\|Severe early-childhood-onset retinal dystrophy [RCV000408523]\|not provided [RCV000085691]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94021238	94021238	Human	4	alternate_id
8645819	CV105229	deletion	NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	Cone-rod dystrophy 3 [RCV002498457]\|Cone-rod dystrophy [RCV003324512]\|Retinal dystrophy [RCV001073680]\|Severe early-childhood-onset retinal dystrophy [RCV000986352]\|Stargardt disease [RCV003324513]\|not provided [RCV000085693]	pathogenic\|not provided	1	94019720	94019734	Human	11	alternate_id
8645820	CV105230	single nucleotide variant	NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)	ABCA4-related disorder [RCV001099771]\|Cone-rod dystrophy 3 [RCV005025165]\|Retinal dystrophy [RCV001073381]\|Severe early-childhood-onset retinal dystrophy [RCV000986353]\|not provided [RCV000085694]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94019722	94019722	Human	8	alternate_id
8645821	CV105231	single nucleotide variant	NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)	Retinal dystrophy [RCV004815119]\|Severe early-childhood-onset retinal dystrophy [RCV000408570]\|not provided [RCV000085695]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94019713	94019713	Human	4	alternate_id
8645822	CV105232	single nucleotide variant	NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	ABCA4-related disorder [RCV004528785]\|Retinal dystrophy [RCV001073371]\|Severe early-childhood-onset retinal dystrophy [RCV002255285]\|Stargardt disease [RCV002470765]\|not provided [RCV000085696]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94019701	94019701	Human	4	alternate_id
8645823	CV105233	single nucleotide variant	NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)	Cone-rod dystrophy 3 [RCV002490743]\|Retinal dystrophy [RCV004815120]\|Severe early-childhood-onset retinal dystrophy [RCV000408469]\|not provided [RCV000085697]	pathogenic\|likely pathogenic\|not provided	1	94019691	94019691	Human	8	alternate_id
8645825	CV105235	single nucleotide variant	NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)	Retinal dystrophy [RCV004815121]\|Severe early-childhood-onset retinal dystrophy [RCV000408542]\|not provided [RCV000085699]	likely pathogenic\|not provided	1	94019664	94019664	Human	4	alternate_id
8645826	CV105236	single nucleotide variant	NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	Age related macular degeneration 2 [RCV001196794]\|Cone-rod dystrophy 3 [RCV005031588]\|Cone-rod dystrophy 3 [RCV005364981]\|Retinal dystrophy [RCV001073775]\|Severe early-childhood-onset retinal dystrophy [RCV001353027]\|Stargardt disease [RCV001449733]\|not provided ... (more) [RCV000085700]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94103071	94103071	Human	8	alternate_id
8645828	CV105238	deletion	NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)	Retinal dystrophy [RCV001073781]\|Severe early-childhood-onset retinal dystrophy [RCV000301420]\|not provided [RCV000085702]	pathogenic\|not provided	1	94019616	94019617	Human	4	alternate_id
8645829	CV105239	single nucleotide variant	NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)	Cone-rod dystrophy 3 [RCV005031589]\|Retinal dystrophy [RCV001074107]\|Retinitis pigmentosa [RCV004689457]\|not provided [RCV000085703]	pathogenic\|uncertain significance\|not provided	1	94019592	94019592	Human	5	alternate_id
8645830	CV105240	single nucleotide variant	NM_000350.3(ABCA4):c.5196+1G>A	Age related macular degeneration 2 [RCV001197154]\|Retinal dystrophy [RCV001074902]\|Severe early-childhood-onset retinal dystrophy [RCV000408528]\|maculopathy [RCV001002818]\|not provided [RCV000085704]	pathogenic\|not provided	1	94019581	94019581	Human	6	alternate_id
8645834	CV105244	single nucleotide variant	NM_000350.3(ABCA4):c.5196+2T>C	Retinal dystrophy [RCV001073647]\|Severe early-childhood-onset retinal dystrophy [RCV000408592]\|not provided [RCV000085708]	pathogenic\|likely pathogenic\|not provided	1	94019580	94019580	Human	4	alternate_id
8645846	CV105256	single nucleotide variant	NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)	ABCA4-related disorder [RCV004529892]\|Retinal dystrophy [RCV001074187]\|Retinitis pigmentosa [RCV001723668]\|Severe early-childhood-onset retinal dystrophy [RCV001352958]\|Stargardt disease [RCV000787509]\|not provided [RCV000085721]	pathogenic\|likely pathogenic\|not provided	1	94014687	94014687	Human	6	alternate_id
8645850	CV105260	single nucleotide variant	NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	Retinal dystrophy [RCV000504739]\|Retinitis pigmentosa [RCV004767070]\|Severe early-childhood-onset retinal dystrophy [RCV000677343]\|not provided [RCV000085725]	pathogenic\|likely pathogenic\|not provided	1	94014622	94014622	Human	6	alternate_id
8645852	CV105262	single nucleotide variant	NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)	Age related macular degeneration 2 [RCV001199290]\|Retinal dystrophy [RCV001074166]\|Retinitis pigmentosa [RCV004767071]\|Severe early-childhood-onset retinal dystrophy [RCV001352967]\|not provided [RCV000085727]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94014590	94014590	Human	8	alternate_id
8645854	CV105264	single nucleotide variant	NM_000350.3(ABCA4):c.5460+1G>A	Autosomal recessive retinitis pigmentosa [RCV001257848]\|Retinal dystrophy [RCV004815123]\|Retinitis pigmentosa [RCV000791319]\|Stargardt disease [RCV001002813]\|not provided [RCV000085729]	pathogenic\|not provided	1	94014542	94014542	Human	5	alternate_id
8645859	CV105269	single nucleotide variant	NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)	Retinal dystrophy [RCV004798774]\|Severe early-childhood-onset retinal dystrophy [RCV000408577]\|not provided [RCV000085734]	pathogenic\|likely pathogenic\|not provided	1	94011334	94011334	Human	4	alternate_id
8645861	CV105271	single nucleotide variant	NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)	Retinal dystrophy [RCV004815124]\|Severe early-childhood-onset retinal dystrophy [RCV004562248]\|Stargardt disease [RCV005406820]\|not provided [RCV000085736]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94011319	94011319	Human	4	alternate_id
8645862	CV105272	single nucleotide variant	NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)	Cone-rod dystrophy 3 [RCV003152681]\|Cone-rod dystrophy 3 [RCV005025166]\|Stargardt disease [RCV004689603]\|not provided [RCV000085737]	pathogenic\|likely pathogenic\|not provided	1	94011309	94011309	Human	2	alternate_id
8645864	CV105274	single nucleotide variant	NM_000350.3(ABCA4):c.5584+6T>C	Retinal dystrophy [RCV004815125]\|Severe early-childhood-onset retinal dystrophy [RCV000678512]\|Stargardt disease [RCV000787512]\|not provided [RCV000085739]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94011256	94011256	Human	4	alternate_id
8645868	CV105278	single nucleotide variant	NM_000350.3(ABCA4):c.5585-70C>T	Age related macular degeneration 2 [RCV001549166]\|Cone-rod dystrophy 3 [RCV001549165]\|Retinitis pigmentosa 19 [RCV001549149]\|Severe early-childhood-onset retinal dystrophy [RCV001549148]\|not provided [RCV000085743]	benign\|not provided	1	94010999	94010999	Human	6	alternate_id
8645875	CV105285	single nucleotide variant	NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)	ABCA4-related disorder [RCV001096233]\|Age related macular degeneration 2 [RCV001549147]\|Cone-Rod Dystrophy, Recessive [RCV000318478]\|Cone-rod dystrophy 3 [RCV001549146]\|Macular degeneration [RCV000376557]\|Retinal dystrophy [RCV003888477]\|Retinitis Pigmentosa, Recessive [RCV000321911]\|Retinitis pigme ... (more) ntosa 19 [RCV001549145]\|Severe early-childhood-onset retinal dystrophy [RCV001549144]\|Stargardt Disease, Recessive [RCV000263057]\|not provided [RCV000085750]\|not specified [RCV000178425]	benign\|likely benign\|not provided	1	94010832	94010832	Human	12	alternate_id
8645877	CV105287	single nucleotide variant	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4-related disorder [RCV000778998]\|Age related macular degeneration 2 [RCV001196150]\|Cone-rod dystrophy 3 [RCV002470766]\|Inborn genetic diseases [RCV000623966]\|Retinal dystrophy [RCV001075015]\|Retinitis pigmentosa [RCV000787764]\|Severe early-childhood-onset retinal dystrophy [RCV000408593]\|Star ... (more) style='font-weight:700;'>Stargardt disease [RCV000787513]\|not provided [RCV000085752]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94010821	94010821	Human	10	alternate_id
8645881	CV105291	single nucleotide variant	NM_000350.3(ABCA4):c.571-2A>G	Severe early-childhood-onset retinal dystrophy [RCV000008354]\|not provided [RCV000085756]	pathogenic\|not provided	1	94098993	94098993	Human	2	alternate_id
8645883	CV105293	single nucleotide variant	NM_000350.3(ABCA4):c.5715-25A>C	Age related macular degeneration 2 [RCV001549143]\|Cone-rod dystrophy 3 [RCV001549142]\|Retinitis pigmentosa 19 [RCV001549141]\|Severe early-childhood-onset retinal dystrophy [RCV001549140]\|not provided [RCV000085758]\|not specified [RCV000242093]	benign\|not provided	1	94008896	94008896	Human	6	alternate_id
8645885	CV105295	single nucleotide variant	NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)	Severe early-childhood-onset retinal dystrophy [RCV005234983]\|not provided [RCV000085760]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94008825	94008825	Human	2	alternate_id
8645886	CV105296	single nucleotide variant	NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)	ABCA4-related disorder [RCV001096230]\|Age related macular degeneration 2 [RCV001549139]\|Cone-Rod Dystrophy, Recessive [RCV000364498]\|Cone-rod dystrophy 3 [RCV001549138]\|Macular degeneration [RCV000349633]\|Retinal dystrophy [RCV003888478]\|Retinitis Pigmentosa, Recessive [RCV000309928]\|Retinitis pigme ... (more) ntosa 19 [RCV001549137]\|Severe early-childhood-onset retinal dystrophy [RCV001549136]\|Stargardt Disease, Recessive [RCV000402778]\|not provided [RCV000085761]\|not specified [RCV000211879]	benign\|likely benign\|not provided	1	94008772	94008772	Human	12	alternate_id
8645887	CV105297	single nucleotide variant	NM_000350.3(ABCA4):c.5836-11G>A	ABCA4-related disorder [RCV001096229]\|Age related macular degeneration 2 [RCV001548899]\|Cone-Rod Dystrophy, Recessive [RCV000313494]\|Cone-rod dystrophy 3 [RCV001548898]\|Macular degeneration [RCV000336246]\|Retinitis Pigmentosa, Recessive [RCV000407106]\|Retinitis pigmentosa 19 [RCV001548897]\|Severe ea ... (more) rly-childhood-onset retinal dystrophy [RCV001548896]\|Stargardt Disease, Recessive [RCV000281163]\|not provided [RCV000085763]\|not specified [RCV000152715]	benign\|likely benign\|not provided	1	94008308	94008308	Human	10	alternate_id
8645892	CV105302	single nucleotide variant	NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)	ABCA4-related disorder [RCV001096228]\|Age related macular degeneration 2 [RCV001195781]\|Cone-Rod Dystrophy, Recessive [RCV000379050]\|Macular degeneration [RCV000284620]\|Retinal dystrophy [RCV003888479]\|Retinitis Pigmentosa, Recessive [RCV000375640]\|Severe early-childhood-onset retinal dystrophy [RCV ... (more) 004562249]\|Stargardt Disease, Recessive [RCV000339604]\|not provided [RCV000085768]\|not specified [RCV000211880]	benign\|likely benign\|uncertain significance\|not provided	1	94008290	94008290	Human	10	alternate_id
8645898	CV105308	deletion	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4-related disorder [RCV003985075]\|Age related macular degeneration 2 [RCV000678514]\|Autosomal recessive retinitis pigmentosa [RCV001257850]\|Retinal dystrophy [RCV000504777]\|Retinitis pigmentosa 19 [RCV001542556]\|See cases [RCV004584348]\|Severe early-childhood-onset retinal dystrophy [RCV00040856 ... (more) 1]\|maculopathy [RCV001002810]\|not provided [RCV000085776]	pathogenic\|not provided	1	94007722	94007722	Human	8	alternate_id
8645900	CV105310	single nucleotide variant	NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	Retinal dystrophy [RCV001075771]\|Retinitis pigmentosa [RCV001002809]\|Severe early-childhood-onset retinal dystrophy [RCV005234984]\|Stargardt disease [RCV005055577]\|not provided [RCV000085778]	pathogenic\|likely pathogenic\|not provided	1	94007710	94007710	Human	6	alternate_id
8645901	CV105311	single nucleotide variant	NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)	Retinal dystrophy [RCV004815129]\|Severe early-childhood-onset retinal dystrophy [RCV000408461]\|not provided [RCV000085779]	pathogenic\|likely pathogenic\|not provided	1	94007703	94007703	Human	4	alternate_id
8645905	CV105315	single nucleotide variant	NM_000350.3(ABCA4):c.6006-16G>A	Age related macular degeneration 2 [RCV001548891]\|Cone-rod dystrophy 3 [RCV001548890]\|Retinitis pigmentosa 19 [RCV001548889]\|Severe early-childhood-onset retinal dystrophy [RCV001548888]\|not provided [RCV000085783]\|not specified [RCV000211881]	benign\|not provided	1	94005598	94005598	Human	6	alternate_id
8645907	CV105317	single nucleotide variant	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4-related disorder [RCV004529893]\|Age related macular degeneration 2 [RCV001197157]\|Cone-rod dystrophy 3 [RCV000763436]\|Macular dystrophy [RCV000787517]\|Progressive cone dystrophy (without rod involvement) [RCV000787766]\|Retinal dystrophy [RCV001074874]\|Severe early-childhood-onset retinal dystr ... (more) ophy [RCV000178545]\|Vitreoretinopathy [RCV000787516]\|not provided [RCV000085787]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94005499	94005499	Human	11	alternate_id
8645908	CV105318	single nucleotide variant	NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)	Stargardt disease [RCV003324514]\|not provided [RCV000085788]	likely pathogenic\|uncertain significance\|not provided	1	94005484	94005484	Human	1	alternate_id
8645909	CV105319	single nucleotide variant	NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	Retinal dystrophy [RCV001073850]\|Severe early-childhood-onset retinal dystrophy [RCV000408458]\|not provided [RCV000085789]	pathogenic\|not provided	1	94005476	94005476	Human	4	alternate_id
8645910	CV105320	single nucleotide variant	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4-related disorder [RCV004732675]\|Cone-rod dystrophy 3 [RCV000763435]\|Retinal dystrophy [RCV001073783]\|Severe early-childhood-onset retinal dystrophy [RCV002283455]\|Stargardt disease [RCV000787772]\|not provided [RCV000085790]	pathogenic\|likely pathogenic\|not provided	1	94005470	94005470	Human	8	alternate_id
8645912	CV105322	single nucleotide variant	NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	Cone-rod dystrophy 3 [RCV002490744]\|not provided [RCV000085792]	pathogenic\|not provided	1	94001961	94001961	Human	1	alternate_id
8645913	CV105323	single nucleotide variant	NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)	ABCA4-related disorder [RCV001098370]\|Cone-rod dystrophy 3 [RCV005357539]\|Retinal dystrophy [RCV001074695]\|Severe early-childhood-onset retinal dystrophy [RCV000986375]\|not provided [RCV000085793]\|not specified [RCV000391995]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94098944	94098944	Human	6	alternate_id
8645917	CV105327	single nucleotide variant	NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	Age related macular degeneration 2 [RCV001770079]\|Cone-rod dystrophy 3 [RCV001004998]\|Cone-rod dystrophy 3 [RCV005357540]\|Retinal dystrophy [RCV000504630]\|Stargardt disease [RCV000787519]\|not provided [RCV000085797]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94001911	94001911	Human	5	alternate_id
8645918	CV105328	microsatellite	NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)	Retinal dystrophy [RCV001073616]\|Severe early-childhood-onset retinal dystrophy [RCV000986345]\|not provided [RCV000085798]	pathogenic\|likely pathogenic\|not provided	1	94001901	94001902	Human		alternate_id
8645919	CV105329	single nucleotide variant	NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)	ABCA4-related disorder [RCV001101662]\|Cone-Rod Dystrophy, Recessive [RCV000383722]\|Cone-rod dystrophy 3 [RCV002498459]\|Macular degeneration [RCV000289405]\|Retinal dystrophy [RCV003888480]\|Retinitis Pigmentosa, Recessive [RCV000344433]\|Stargardt Disease, Recessiv ... (more) e [RCV000329139]\|not provided [RCV000085799]\|not specified [RCV000178562]	benign\|likely benign\|not provided	1	94001891	94001891	Human	12	alternate_id
8645922	CV105332	single nucleotide variant	NM_000350.3(ABCA4):c.6282+7G>A	ABCA4-related disorder [RCV001101660]\|Cone-Rod Dystrophy, Recessive [RCV000357799]\|Cone-rod dystrophy 3 [RCV002490745]\|Macular degeneration [RCV000263289]\|Retinitis Pigmentosa, Recessive [RCV000318414]\|Stargardt Disease, Recessive [RCV000354509]\|not provided [RC ... (more) V000085802]\|not specified [RCV000178563]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters\|not provided	1	94001851	94001851	Human	10	alternate_id
8645924	CV105334	single nucleotide variant	NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)	Stargardt disease [RCV004800285]\|not provided [RCV000085804]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94001102	94001102	Human	1	alternate_id
8645926	CV105336	single nucleotide variant	NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	ABCA4-related retinopathy [RCV005357541]\|Age related macular degeneration 2 [RCV004783742]\|Retinal dystrophy [RCV001075529]\|Retinitis pigmentosa [RCV005417958]\|Severe early-childhood-onset retinal dystrophy [RCV000408484]\|Stargardt disease [RCV004017397]\|not pro ... (more) vided [RCV000085806]	pathogenic\|likely pathogenic\|not provided	1	94001072	94001072	Human	8	alternate_id
8645927	CV105337	single nucleotide variant	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4-related disorder [RCV004528786]\|Cone-rod dystrophy 3 [RCV005025167]\|Macular dystrophy [RCV000505080]\|Optic atrophy [RCV004815130]\|Retinal dystrophy [RCV001074412]\|Retinitis pigmentosa 19 [RCV005252116]\|Severe early-childhood-onset retinal dystrophy [RCV000408534]\|Star ... (more) >Stargardt disease [RCV004017398]\|not provided [RCV000085807]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94001068	94001068	Human	12	alternate_id
8645929	CV105339	single nucleotide variant	NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)	Retinal dystrophy [RCV004815131]\|Severe early-childhood-onset retinal dystrophy [RCV000504640]\|not provided [RCV000085809]	pathogenic\|not provided	1	94001059	94001059	Human	4	alternate_id
8645930	CV105340	single nucleotide variant	NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met)	Severe early-childhood-onset retinal dystrophy [RCV004562250]\|not provided [RCV000085810]	likely pathogenic\|not provided	1	94001049	94001049	Human	2	alternate_id
8645931	CV105341	single nucleotide variant	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4-related disorder [RCV004529894]\|Cone-rod dystrophy 3 [RCV002490746]\|Retinal dystrophy [RCV001073884]\|Severe early-childhood-onset retinal dystrophy [RCV000318700]\|not provided [RCV000085811]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94001046	94001046	Human	8	alternate_id
8645934	CV105344	single nucleotide variant	NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)	Severe early-childhood-onset retinal dystrophy [RCV004562251]\|not provided [RCV000085815]	pathogenic\|uncertain significance\|not provided	1	94001005	94001005	Human	2	alternate_id
8645935	CV105345	single nucleotide variant	NM_000350.3(ABCA4):c.6386+2C>G	Retinal dystrophy [RCV004815132]\|Retinitis pigmentosa 19 [RCV003225930]\|Severe early-childhood-onset retinal dystrophy [RCV000408502]\|not provided [RCV000085816]	pathogenic\|likely pathogenic\|not provided	1	94001000	94001000	Human	5	alternate_id
8645936	CV105346	single nucleotide variant	NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	Cone-rod dystrophy 3 [RCV005031590]\|Retinal dystrophy [RCV001074273]\|Stargardt disease [RCV004526616]\|not provided [RCV000085817]	pathogenic\|likely pathogenic\|not provided	1	94000924	94000924	Human	4	alternate_id
8645937	CV105347	single nucleotide variant	NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)	ABCA4-related disorder [RCV004732676]\|Retinal dystrophy [RCV004815133]\|Retinitis pigmentosa [RCV005237531]\|Severe early-childhood-onset retinal dystrophy [RCV005222752]\|not provided [RCV000085818]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94000900	94000900	Human	6	alternate_id
8645939	CV105349	single nucleotide variant	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4-related disorder [RCV004724804]\|Retinal dystrophy [RCV000505094]\|Retinitis pigmentosa 19 [RCV004720238]\|Severe early-childhood-onset retinal dystrophy [RCV000132593]\|Visual loss [RCV000414922]\|not provided [RCV000085820]	pathogenic\|likely pathogenic\|not provided	1	94000870	94000870	Human	10	alternate_id
8645942	CV105352	single nucleotide variant	NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	Retinal dystrophy [RCV001074378]\|Severe early-childhood-onset retinal dystrophy [RCV000408531]\|not provided [RCV000085823]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94000866	94000866	Human	4	alternate_id
8645947	CV105357	single nucleotide variant	NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	Cone-rod dystrophy 3 [RCV005025168]\|Stargardt disease [RCV001002806]\|not provided [RCV000085829]	pathogenic\|not provided	1	93998027	93998027	Human	2	alternate_id
8645950	CV105360	single nucleotide variant	NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	Cone-rod dystrophy 3 [RCV002498460]\|Retinal dystrophy [RCV000504919]\|Severe early-childhood-onset retinal dystrophy [RCV002470767]\|not provided [RCV000085832]	pathogenic\|likely pathogenic\|not provided	1	94098904	94098904	Human	8	alternate_id
8645952	CV105362	single nucleotide variant	NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)	Retinal dystrophy [RCV003888484]\|Severe early-childhood-onset retinal dystrophy [RCV000408488]\|not provided [RCV000085834]	pathogenic\|not provided	1	93997981	93997981	Human	4	alternate_id
8645955	CV105365	single nucleotide variant	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4-related disorder [RCV004529895]\|Cone dystrophy [RCV000504742]\|Retinal dystrophy [RCV004794359]\|Retinitis pigmentosa 19 [RCV001352970]\|Severe early-childhood-onset retinal dystrophy [RCV000408450]\|not provided [RCV000085837]	pathogenic\|likely pathogenic\|not provided	1	93997932	93997932	Human	7	alternate_id
8645957	CV105367	deletion	NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	Cone-rod dystrophy 3 [RCV005025169]\|Retinal dystrophy [RCV001075620]\|Retinitis pigmentosa 19 [RCV002513926]\|Severe early-childhood-onset retinal dystrophy [RCV001723670]\|not provided [RCV000085839]	pathogenic\|not provided	1	94098884	94098896	Human	8	alternate_id
8645960	CV105370	single nucleotide variant	NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)	Retinal dystrophy [RCV001075761]\|Retinitis pigmentosa [RCV005417959]\|Severe early-childhood-onset retinal dystrophy [RCV004562252]\|not provided [RCV000085842]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	93997904	93997904	Human	6	alternate_id
8645965	CV105376	single nucleotide variant	NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	Retinal dystrophy [RCV001075235]\|Severe early-childhood-onset retinal dystrophy [RCV004786366]\|Stargardt disease [RCV003324515]\|not provided [RCV000085848]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	93997869	93997869	Human	4	alternate_id
8645969	CV105380	single nucleotide variant	NM_000350.3(ABCA4):c.6730-3T>C	ABCA4-related disorder [RCV001099673]\|Cone-Rod Dystrophy, Recessive [RCV000308440]\|Cone-rod dystrophy 3 [RCV002490747]\|Macular degeneration [RCV000366472]\|Retinitis Pigmentosa, Recessive [RCV000272093]\|Stargardt Disease, Recessive [RCV000311783]\|not provided [RC ... (more) V000085852]\|not specified [RCV000178684]	benign\|not provided	1	93996198	93996198	Human	10	alternate_id
8645972	CV105383	single nucleotide variant	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	ABCA4-related disorder [RCV001097882]\|Cone-Rod Dystrophy, Recessive [RCV000376116]\|Cone-rod dystrophy 3 [RCV002505018]\|Macular degeneration [RCV000281600]\|Retinal dystrophy [RCV003888485]\|Retinitis Pigmentosa, Recessive [RCV000336644]\|Stargardt Disease, Recessiv ... (more) e [RCV000340209]\|not provided [RCV000085855]\|not specified [RCV000178683]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters\|not provided	1	93996161	93996161	Human	12	alternate_id
8645975	CV105386	single nucleotide variant	NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)	Cone-rod dystrophy 3 [RCV005031591]\|not provided [RCV000085858]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	1	94113063	94113063	Human	1	alternate_id
8645976	CV105387	single nucleotide variant	NM_000350.3(ABCA4):c.71G>A (p.Arg24His)	ABCA4-related disorder [RCV000779009]\|Cone-rod dystrophy 3 [RCV004796010]\|Retinal dystrophy [RCV001074842]\|Retinitis pigmentosa 19 [RCV005252754]\|Severe early-childhood-onset retinal dystrophy [RCV005234985]\|not provided [RCV000085859]	pathogenic\|likely pathogenic\|likely benign\|uncertain significance\|not provided	1	94113062	94113062	Human	8	alternate_id
8645983	CV105394	single nucleotide variant	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4-related disorder [RCV004529896]\|Cone-rod dystrophy 3 [RCV000763049]\|Cone-rod dystrophy 3 [RCV003224863]\|Macular dystrophy [RCV000787525]\|Retinal dystrophy [RCV001074394]\|Retinitis pigmentosa 19 [RCV000678516]\|Retinitis pigmentosa [RCV000787526]\|Severe early-childhood-onset retinal dystrophy [R ... (more) CV000408540]\|Stargardt disease [RCV003993802]\|not provided [RCV000085866]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|no classifications from unflagged records\|not provided	1	94098794	94098794	Human	12	alternate_id
8645991	CV105402	single nucleotide variant	NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)	Cone-rod dystrophy 3 [RCV005025170]\|Macular dystrophy [RCV000504769]\|Retinal dystrophy [RCV001075838]\|not provided [RCV000085874]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94080651	94080651	Human	5	alternate_id
127237539	CV1054024	single nucleotide variant	NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)	Cone-rod dystrophy 3 [RCV002272462]\|Severe early-childhood-onset retinal dystrophy [RCV001376249]\|not provided [RCV002550231]	pathogenic\|uncertain significance	1	94011316	94011316	Human	3	alternate_id
127241057	CV1054025	single nucleotide variant	NM_000350.3(ABCA4):c.5461-1G>T	Severe early-childhood-onset retinal dystrophy [RCV001376209]\|not provided [RCV001379164]	pathogenic\|likely pathogenic	1	94011386	94011386	Human	2	alternate_id
127238169	CV1054026	single nucleotide variant	NM_000350.3(ABCA4):c.3608-35A>G	Severe early-childhood-onset retinal dystrophy [RCV001376528]	uncertain significance	1	94037385	94037385	Human	2	alternate_id
127237610	CV1054027	indel	NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer)	Severe early-childhood-onset retinal dystrophy [RCV001376281]	pathogenic	1	94056688	94056691	Human		alternate_id
127237734	CV1054028	single nucleotide variant	NM_000350.3(ABCA4):c.859-13T>C	Severe early-childhood-onset retinal dystrophy [RCV001376345]	uncertain significance	1	94080731	94080731	Human	2	alternate_id
127237878	CV1054029	single nucleotide variant	NM_000350.3(ABCA4):c.442+2T>A	Severe early-childhood-onset retinal dystrophy [RCV001376405]\|not provided [RCV002550236]	pathogenic\|likely pathogenic	1	94108575	94108575	Human	2	alternate_id
8645995	CV105406	single nucleotide variant	NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)	Retinal dystrophy [RCV001074202]\|Severe early-childhood-onset retinal dystrophy [RCV000986374]\|not provided [RCV000085878]	pathogenic\|not provided	1	94080595	94080595	Human	4	alternate_id
8645996	CV105407	single nucleotide variant	NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)	Cone-rod dystrophy 3 [RCV004796011]\|not provided [RCV000085879]	pathogenic\|likely pathogenic\|not provided	1	94080594	94080594	Human	1	alternate_id
127251656	CV1054891	single nucleotide variant	NM_000350.3(ABCA4):c.3522+1G>A	Cone-rod dystrophy 3 [RCV005023127]\|not provided [RCV001378602]	pathogenic\|likely pathogenic	1	94041208	94041208	Human	1	alternate_id
127245733	CV1054893	single nucleotide variant	NM_000350.3(ABCA4):c.3328+1G>A	Severe early-childhood-onset retinal dystrophy [RCV005235576]\|not provided [RCV001377471]	likely pathogenic	1	94042760	94042760	Human	2	alternate_id
127244854	CV1058841	single nucleotide variant	NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)	ABCA4-related disorder [RCV004733282]\|Cone-rod dystrophy 3 [RCV005361592]\|Severe early-childhood-onset retinal dystrophy [RCV004563873]\|not provided [RCV001384258]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94019664	94019664	Human	4	alternate_id
127253304	CV1058847	single nucleotide variant	NM_000350.3(ABCA4):c.4501G>T (p.Glu1501Ter)	Severe early-childhood-onset retinal dystrophy [RCV004699132]\|not provided [RCV001385903]	pathogenic	1	94029483	94029483	Human	2	alternate_id
127265089	CV1058859	deletion	NM_000350.3(ABCA4):c.2069del (p.Gly690fs)	Retinal dystrophy [RCV004815510]\|Severe early-childhood-onset retinal dystrophy [RCV002290699]\|not provided [RCV001381380]	pathogenic	1	94060628	94060628	Human	4	alternate_id
127256035	CV1058861	single nucleotide variant	NM_000350.3(ABCA4):c.1761-2A>G	Cone-rod dystrophy 3 [RCV005038198]\|Cone-rod dystrophy 3 [RCV005361594]\|Severe early-childhood-onset retinal dystrophy [RCV002225134]\|not provided [RCV001386479]	pathogenic\|likely pathogenic	1	94062755	94062755	Human	6	alternate_id
127233618	CV1058862	deletion	NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)	Severe early-childhood-onset retinal dystrophy [RCV001391313]\|not provided [RCV001383104]	pathogenic	1	94063122	94063123	Human	2	alternate_id
127256041	CV1058863	deletion	NM_000350.3(ABCA4):c.1561del (p.Val521fs)	Severe early-childhood-onset retinal dystrophy [RCV005235578]\|not provided [RCV001386480]	pathogenic\|likely pathogenic	1	94063311	94063311	Human	2	alternate_id
127272690	CV1058865	single nucleotide variant	NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter)	Severe early-childhood-onset retinal dystrophy [RCV001587394]\|not provided [RCV001390541]	pathogenic	1	94077853	94077853	Human	2	alternate_id
127239664	CV1060003	single nucleotide variant	NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)	Retinitis pigmentosa 41 [RCV005253830]\|Stargardt disease [RCV002466268]\|not provided [RCV001383295]	pathogenic	4	15989785	15989785	Human	2	alternate_id
8646947	CV106465	single nucleotide variant	NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)	Achromatopsia 3 [RCV000388205]\|Achromatopsia [RCV001826781]\|Severe early-childhood-onset retinal dystrophy [RCV000331894]\|not provided [RCV000086971]\|not specified [RCV000242664]	benign\|likely benign\|uncertain significance\|not provided	8	86743548	86743548	Human	6	alternate_id
127297710	CV1131775	single nucleotide variant	NM_000350.3(ABCA4):c.2383-13C>T	Stargardt disease [RCV005419156]\|not provided [RCV001497832]	benign\|likely benign\|uncertain significance	1	94055328	94055328	Human	1	alternate_id
127286286	CV1161885	single nucleotide variant	NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)	Severe early-childhood-onset retinal dystrophy [RCV001526707]\|Stargardt disease [RCV002469401]\|not provided [RCV002568845]	pathogenic\|likely pathogenic\|uncertain significance	1	94001080	94001080	Human	2	alternate_id
127286284	CV1161886	single nucleotide variant	NM_000350.3(ABCA4):c.3415T>G (p.Tyr1139Asp)	Severe early-childhood-onset retinal dystrophy [RCV001526706]	uncertain significance	1	94041316	94041316	Human	2	alternate_id
150339569	CV1174783	single nucleotide variant	NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)	Retinal dystrophy [RCV003888303]\|Severe early-childhood-onset retinal dystrophy [RCV003989695]\|not provided [RCV001543576]	pathogenic\|likely pathogenic	1	94042802	94042802	Human	4	alternate_id
150404740	CV1178862	single nucleotide variant	NM_000350.3(ABCA4):c.4352+54A>G	Age related macular degeneration 2 [RCV001549178]\|Cone-rod dystrophy 3 [RCV001549177]\|Retinitis pigmentosa 19 [RCV001549176]\|Severe early-childhood-onset retinal dystrophy [RCV001549175]\|not provided [RCV001713032]	benign	1	94030374	94030374	Human	6	alternate_id
150404484	CV1178863	deletion	NM_000350.3(ABCA4):c.1240-65del	Age related macular degeneration 2 [RCV001548789]\|Cone-rod dystrophy 3 [RCV001548788]\|Retinitis pigmentosa 19 [RCV001548787]\|Severe early-childhood-onset retinal dystrophy [RCV001548786]\|not provided [RCV001619970]	benign	1	94078771	94078771	Human	6	alternate_id
150453560	CV1203840	single nucleotide variant	NM_000350.3(ABCA4):c.758T>A (p.Leu253His)	Severe early-childhood-onset retinal dystrophy [RCV001591788]	likely pathogenic	1	94098804	94098804	Human	2	alternate_id
150453590	CV1203846	single nucleotide variant	NM_000350.3(ABCA4):c.4774-9G>A	Severe early-childhood-onset retinal dystrophy [RCV001591795]	uncertain significance	1	94021723	94021723	Human	2	alternate_id
150453616	CV1203852	indel	NM_000350.3(ABCA4):c.4734_4739delinsCC (p.Phe1579fs)	Severe early-childhood-onset retinal dystrophy [RCV001591801]	pathogenic	1	94021880	94021885	Human		alternate_id
150453656	CV1203862	single nucleotide variant	NM_000350.3(ABCA4):c.2744-402G>A	Severe early-childhood-onset retinal dystrophy [RCV001591811]	uncertain significance	1	94047495	94047495	Human	2	alternate_id
150453694	CV1203871	single nucleotide variant	NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro)	Severe early-childhood-onset retinal dystrophy [RCV001591820]	likely pathogenic	1	94041382	94041382	Human	2	alternate_id
150453751	CV1203885	single nucleotide variant	NM_152443.3(RDH12):c.607A>G (p.Ser203Gly)	Stargardt disease [RCV001591834]	likely pathogenic	14	67727139	67727139	Human	1	alternate_id
150454066	CV1203950	deletion	NM_000350.3(ABCA4):c.2922_2949del (p.Ile975fs)	Severe early-childhood-onset retinal dystrophy [RCV001591900]	pathogenic	1	94044714	94044741	Human	2	alternate_id
150454113	CV1203962	single nucleotide variant	NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)	Severe early-childhood-onset retinal dystrophy [RCV001591912]\|not provided [RCV003120640]	pathogenic	1	94042793	94042793	Human	2	alternate_id
150454138	CV1203968	single nucleotide variant	NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg)	Severe early-childhood-onset retinal dystrophy [RCV001591918]\|not provided [RCV001882714]	likely pathogenic	1	94042826	94042826	Human	2	alternate_id
150454175	CV1203976	single nucleotide variant	NM_000350.3(ABCA4):c.2873T>A (p.Ile958Asn)	Severe early-childhood-onset retinal dystrophy [RCV001591926]	likely pathogenic	1	94046964	94046964	Human	2	alternate_id
150471153	CV1209488	single nucleotide variant	NM_000350.3(ABCA4):c.2069G>T (p.Gly690Val)	Stargardt disease [RCV005237938]\|not provided [RCV001588599]	likely pathogenic\|uncertain significance	1	94060628	94060628	Human	1	alternate_id
150481521	CV1265645	single nucleotide variant	NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)	Cone-rod dystrophy 3 [RCV005023215]\|Stargardt disease [RCV004587194]\|not provided [RCV001682640]	pathogenic\|likely pathogenic	1	94011268	94011268	Human	2	alternate_id
150444803	CV1288115	single nucleotide variant	NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)	Severe early-childhood-onset retinal dystrophy [RCV001725798]\|not provided [RCV002539754]	likely pathogenic\|uncertain significance	1	94001089	94001089	Human	2	alternate_id
150528105	CV1301629	single nucleotide variant	NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)	Cone-rod dystrophy 3 [RCV002489788]\|not provided [RCV001755001]	conflicting interpretations of pathogenicity\|uncertain significance	1	94001009	94001009	Human	1	alternate_id
150536754	CV1314258	duplication	NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer)	Stargardt disease [RCV003389499]\|not provided [RCV001780683]	pathogenic\|likely pathogenic	11	61962717	61962718	Human	1	alternate_id
151348723	CV1324183	single nucleotide variant	NM_000350.3(ABCA4):c.3941C>T (p.Pro1314Leu)	Severe early-childhood-onset retinal dystrophy [RCV001808099]	uncertain significance	1	94031965	94031965	Human	2	alternate_id
151348780	CV1324217	single nucleotide variant	NM_000350.3(ABCA4):c.3814-2A>T	Retinitis pigmentosa 19 [RCV001808133]\|Stargardt disease [RCV002468642]	pathogenic	1	94036790	94036790	Human	2	alternate_id
151662652	CV1333365	single nucleotide variant	NM_000350.3(ABCA4):c.3266C>A (p.Thr1089Asn)	Stargardt disease [RCV001837557]	uncertain significance	1	94042823	94042823	Human	1	alternate_id
151712003	CV1334278	single nucleotide variant	NM_000350.3(ABCA4):c.1555-2A>C	Stargardt disease [RCV001839464]	likely pathogenic	1	94063319	94063319	Human	1	alternate_id
151750468	CV1334491	single nucleotide variant	NM_000350.3(ABCA4):c.4128+1G>A	Retinitis pigmentosa [RCV005419221]\|Severe early-childhood-onset retinal dystrophy [RCV001840952]\|not provided [RCV002292669]	pathogenic	1	94031777	94031777	Human	4	alternate_id
151751343	CV1357213	single nucleotide variant	NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys)	Retinal dystrophy [RCV004815672]\|Severe early-childhood-onset retinal dystrophy [RCV004797959]\|Stargardt disease [RCV005409042]\|not provided [RCV001894361]	likely pathogenic\|uncertain significance	1	94055149	94055149	Human	4	alternate_id
151882853	CV1364388	single nucleotide variant	NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val)	Cone-rod dystrophy 3 [RCV005025516]\|not provided [RCV001999928]\|not specified [RCV004526889]	pathogenic\|likely pathogenic\|uncertain significance	1	94044691	94044691	Human	1	alternate_id
151737352	CV1364710	single nucleotide variant	NM_000350.3(ABCA4):c.4852T>C (p.Trp1618Arg)	Severe early-childhood-onset retinal dystrophy [RCV004565159]\|not provided [RCV002021962]	pathogenic\|likely pathogenic	1	94021406	94021406	Human	2	alternate_id
151830545	CV1377797	single nucleotide variant	NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly)	Stargardt disease [RCV002469446]\|not provided [RCV002014272]	likely pathogenic\|uncertain significance	1	94000914	94000914	Human	1	alternate_id
151760970	CV1380292	single nucleotide variant	NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)	Cone-rod dystrophy 3 [RCV005025523]\|Retinal dystrophy [RCV004816824]\|Severe early-childhood-onset retinal dystrophy [RCV002250790]\|Stargardt disease [RCV004587272]\|not provided [RCV001970179]	pathogenic\|likely pathogenic\|uncertain significance	1	94042785	94042785	Human	8	alternate_id
151838401	CV1382744	single nucleotide variant	NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)	Cone-rod dystrophy 3 [RCV002507835]\|not provided [RCV002031532]	uncertain significance	1	94015842	94015842	Human	1	alternate_id
151762371	CV1393592	single nucleotide variant	NM_000350.3(ABCA4):c.6190G>A (p.Ala2064Thr)	Severe early-childhood-onset retinal dystrophy [RCV005235620]\|not provided [RCV001949300]	pathogenic\|likely pathogenic	1	94001950	94001950	Human	2	alternate_id
151811670	CV1393622	single nucleotide variant	NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)	Retinal dystrophy [RCV004816828]\|Stargardt disease [RCV003331250]\|not provided [RCV001953886]	pathogenic\|likely pathogenic	1	94031804	94031804	Human	3	alternate_id
8689987	CV139937	single nucleotide variant	NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)	ABCA4-related disorder [RCV001096227]\|Age related macular degeneration 2 [RCV001548895]\|Cone-Rod Dystrophy, Recessive [RCV000324408]\|Cone-rod dystrophy 3 [RCV001548894]\|Macular degeneration [RCV000382920]\|Retinal dystrophy [RCV003888516]\|Retinitis Pigmentosa, Recessive [RCV000269749]\|Retinitis pigme ... (more) ntosa 19 [RCV001548893]\|Severe early-childhood-onset retinal dystrophy [RCV001548892]\|Stargardt Disease, Recessive [RCV000328383]\|not provided [RCV000509128]\|not specified [RCV000152704]	benign\|likely benign\|not provided	1	94008289	94008289	Human	12	alternate_id
8689988	CV139938	single nucleotide variant	NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	ABCA4-related disorder [RCV001101664]\|Age related macular degeneration 2 [RCV001548887]\|Cone-Rod Dystrophy, Recessive [RCV000296912]\|Cone-rod dystrophy 3 [RCV001548886]\|Macular degeneration [RCV000355311]\|Retinal dystrophy [RCV003888517]\|Retinitis Pigmentosa, Recessive [RCV000404512]\|Retinitis pigme ... (more) ntosa 19 [RCV001548779]\|Severe early-childhood-onset retinal dystrophy [RCV001548778]\|Stargardt Disease, Recessive [RCV000300456]\|not provided [RCV000509567]\|not specified [RCV000178546]	benign\|not provided	1	94005519	94005519	Human	12	alternate_id
151837256	CV1416897	single nucleotide variant	NM_000350.3(ABCA4):c.4327C>T (p.Arg1443Cys)	Cone-rod dystrophy 3 [RCV005025567]\|Retinal dystrophy [RCV004816862]\|not provided [RCV002014925]	pathogenic\|likely pathogenic\|uncertain significance	1	94030453	94030453	Human	3	alternate_id
151774700	CV1419981	single nucleotide variant	NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)	Cone-rod dystrophy 3 [RCV002486550]\|not provided [RCV002009180]	uncertain significance	1	93998030	93998030	Human	1	alternate_id
151737382	CV1422312	deletion	NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)	Cone-rod dystrophy 3 [RCV004596498]\|Stargardt disease [RCV003331240]\|not provided [RCV001984876]	pathogenic	1	94001956	94001959	Human	2	alternate_id
151834000	CV1428877	single nucleotide variant	NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)	Stargardt disease [RCV002468652]\|not provided [RCV001993991]	likely pathogenic\|uncertain significance	1	94000869	94000869	Human	1	alternate_id
151715861	CV1441744	single nucleotide variant	NM_000350.3(ABCA4):c.4352+61G>A	Severe early-childhood-onset retinal dystrophy [RCV004565162]\|not provided [RCV002002915]	pathogenic\|likely pathogenic	1	94030367	94030367	Human	2	alternate_id
151866725	CV1447460	microsatellite	NM_000350.3(ABCA4):c.2741_2742del (p.His914fs)	Stargardt disease [RCV002469422]\|not provided [RCV001924697]	pathogenic	1	94048869	94048870	Human		alternate_id
151732226	CV1454510	deletion	NM_000350.3(ABCA4):c.2807del (p.Lys936fs)	Stargardt disease [RCV002469432]\|not provided [RCV001967237]	pathogenic	1	94047030	94047030	Human	1	alternate_id
151739473	CV1454827	single nucleotide variant	NM_000350.3(ABCA4):c.5714+1G>A	Cone-rod dystrophy 3 [RCV005032010]\|not provided [RCV001946958]	pathogenic	1	94010799	94010799	Human	1	alternate_id
151837756	CV1468145	deletion	NM_000350.3(ABCA4):c.5453del (p.Asn1818fs)	Severe early-childhood-onset retinal dystrophy [RCV002290820]\|not provided [RCV001956369]	pathogenic\|likely pathogenic	1	94014550	94014550	Human	2	alternate_id
151872746	CV1480726	single nucleotide variant	NM_006017.3(PROM1):c.1579-3T>G	Stargardt disease [RCV002466273]\|not provided [RCV001906702]	pathogenic\|uncertain significance	4	15998491	15998491	Human	1	alternate_id
151888510	CV1481420	single nucleotide variant	NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter)	Cone-rod dystrophy [RCV003324576]\|Stargardt disease [RCV003324577]\|not provided [RCV001963229]	pathogenic	1	94021899	94021899	Human	4	alternate_id
151766442	CV1485952	deletion	NM_000350.3(ABCA4):c.2908del (p.Thr970fs)	Stargardt disease [RCV002469415]\|not provided [RCV002044821]	pathogenic	1	94046929	94046929	Human	1	alternate_id
151739675	CV1492346	single nucleotide variant	NM_000350.3(ABCA4):c.2522A>C (p.Gln841Pro)	Stargardt disease [RCV004801062]\|not provided [RCV002042109]	pathogenic\|likely pathogenic\|uncertain significance	1	94055176	94055176	Human	1	alternate_id
151740554	CV1492453	single nucleotide variant	NM_000350.3(ABCA4):c.53G>A (p.Arg18Gln)	Stargardt disease [RCV004699498]\|not provided [RCV002042187]	pathogenic	1	94120993	94120993	Human	1	alternate_id
151797988	CV1512957	single nucleotide variant	NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)	Stargardt disease [RCV002466272]\|not provided [RCV001866864]	pathogenic\|likely pathogenic\|uncertain significance	4	16006568	16006568	Human	1	alternate_id
8555440	CV15142	deletion	NM_001029883.3(PCARE):c.947del (p.Asn316fs)	Retinitis pigmentosa 54 [RCV000000123]\|Stargardt disease [RCV002466389]\|not provided [RCV001043046]	pathogenic	2	29073315	29073315	Human	2	alternate_id
152045684	CV1670319	single nucleotide variant	NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter)	Severe early-childhood-onset retinal dystrophy [RCV002225171]	pathogenic	1	94056636	94056636	Human	2	alternate_id
152045989	CV1670367	deletion	NM_000350.3(ABCA4):c.2653+2del	Severe early-childhood-onset retinal dystrophy [RCV002225219]\|not provided [RCV003669254]	likely pathogenic\|uncertain significance	1	94051631	94051631	Human	2	alternate_id
152999111	CV1679551	deletion	NM_000350.3(ABCA4):c.3540del (p.Ser1181fs)	Severe early-childhood-onset retinal dystrophy [RCV002250940]	likely pathogenic	1	94040110	94040110	Human	2	alternate_id
153000400	CV1685438	single nucleotide variant	NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val)	Severe early-childhood-onset retinal dystrophy [RCV002259425]	likely pathogenic	1	93997892	93997892	Human	2	alternate_id
153302898	CV1689691	single nucleotide variant	NM_000350.3(ABCA4):c.2099G>T (p.Trp700Leu)	Severe early-childhood-onset retinal dystrophy [RCV002267680]	uncertain significance	1	94060598	94060598	Human	2	alternate_id
155800140	CV1694322	single nucleotide variant	NM_000350.3(ABCA4):c.5278C>A (p.Leu1760Ile)	Severe early-childhood-onset retinal dystrophy [RCV002466301]	uncertain significance	1	94015773	94015773	Human	2	alternate_id
155643360	CV1707804	single nucleotide variant	NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)	Severe early-childhood-onset retinal dystrophy [RCV002289265]\|not provided [RCV003101666]	pathogenic\|uncertain significance	1	94060592	94060592	Human	2	alternate_id
329356848	CV1708460	single nucleotide variant	NM_000350.3(ABCA4):c.5460+2T>C	Severe early-childhood-onset retinal dystrophy [RCV003164452]	pathogenic	1	94014541	94014541	Human	2	alternate_id
329356664	CV1708471	single nucleotide variant	NM_000350.3(ABCA4):c.2327A>G (p.His776Arg)	Severe early-childhood-onset retinal dystrophy [RCV003164463]	uncertain significance	1	94056656	94056656	Human	2	alternate_id
155710527	CV1770782	single nucleotide variant	NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)	Severe early-childhood-onset retinal dystrophy [RCV002302857]	likely pathogenic	1	94019665	94019665	Human	2	alternate_id
155665751	CV1773340	single nucleotide variant	NM_000350.3(ABCA4):c.5498T>G (p.Leu1833Arg)	Severe early-childhood-onset retinal dystrophy [RCV004565260]\|not provided [RCV002297052]	likely pathogenic\|uncertain significance	1	94011348	94011348	Human	2	alternate_id
8595898	CV17779	single nucleotide variant	NM_004183.4(BEST1):c.422G>A (p.Arg141His)	Autosomal recessive bestrophinopathy [RCV000002863]\|BEST1-related disorder [RCV004532276]\|BEST1-related dominant retinopathy [RCV005364864]\|Retinal dystrophy [RCV001075875]\|Stargardt disease [RCV000787541]\|Vitelliform macular dystrophy 2 [RCV000002862]\|not provi ... (more) ded [RCV000086135]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|not provided	11	61955892	61955892	Human	7	alternate_id
155794925	CV1860123	deletion	NM_198506.5(LRIT3):c.59_61del (p.Leu20del)	Stargardt disease [RCV002466764]	pathogenic	4	109848259	109848261	Human	1	alternate_id
155800973	CV1860975	single nucleotide variant	NM_000350.3(ABCA4):c.768+1G>A	Stargardt disease [RCV002468686]	pathogenic	1	94098793	94098793	Human	1	alternate_id
155794724	CV1860976	deletion	NM_000350.3:c.1876_1999del	Stargardt disease [RCV002468687]	pathogenic				Human	1	alternate_id
155794725	CV1860977	deletion	NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)	Stargardt disease [RCV002468688]	likely pathogenic	1	94055168	94055176	Human	1	alternate_id
155794726	CV1860978	deletion	NM_000350.3(ABCA4):c.3898del (p.Arg1300fs)	Stargardt disease [RCV002468689]	pathogenic	1	94032008	94032008	Human	1	alternate_id
155794916	CV1861194	single nucleotide variant	NM_000350.3(ABCA4):c.3608-1G>A	Stargardt disease [RCV002468911]	pathogenic	1	94037351	94037351	Human	1	alternate_id
155794918	CV1861196	single nucleotide variant	NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)	Stargardt disease [RCV002468913]	likely pathogenic	1	94030467	94030467	Human	1	alternate_id
155794919	CV1861197	single nucleotide variant	NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)	Stargardt disease [RCV002468914]	likely pathogenic	1	94098873	94098873	Human	1	alternate_id
155800366	CV1861652	single nucleotide variant	NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)	Stargardt disease [RCV002469936]	pathogenic	1	94055245	94055245	Human	1	alternate_id
155800369	CV1861657	duplication	NM_000350.3(ABCA4):c.4243dup (p.Thr1415fs)	Stargardt disease [RCV002469939]	pathogenic	1	94031005	94031006	Human	1	alternate_id
155798551	CV1862058	single nucleotide variant	NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)	Severe early-childhood-onset retinal dystrophy [RCV002471461]	likely pathogenic	1	94077736	94077736	Human	2	alternate_id
155799131	CV1862353	single nucleotide variant	NM_000350.3(ABCA4):c.1254T>A (p.Phe418Leu)	Stargardt disease [RCV002471759]	uncertain significance	1	94078692	94078692	Human	1	alternate_id
155799132	CV1862354	single nucleotide variant	NM_000350.3(ABCA4):c.443-2A>G	Stargardt disease [RCV002471760]	likely pathogenic	1	94103144	94103144	Human	1	alternate_id
155796569	CV1862925	single nucleotide variant	NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser)	Severe early-childhood-onset retinal dystrophy [RCV002470199]	uncertain significance	1	94007734	94007734	Human	2	alternate_id
155797358	CV1863291	single nucleotide variant	NM_000350.3(ABCA4):c.173A>T (p.Asn58Ile)	Severe early-childhood-onset retinal dystrophy [RCV002470565]	uncertain significance	1	94111567	94111567	Human	2	alternate_id
10041403	CV186769	single nucleotide variant	NM_019098.5(CNGB3):c.644-1G>C	Achromatopsia 3 [RCV000169108]\|Achromatopsia 3 [RCV001535671]\|Achromatopsia [RCV001002980]\|CNGB3-related disorder [RCV004732735]\|not provided [RCV000814009]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	8	86667134	86667134	Human	4	alternate_id
10045050	CV188789	microsatellite	NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)	Autosomal recessive retinitis pigmentosa [RCV001257847]\|Severe early-childhood-onset retinal dystrophy [RCV003989477]\|not provided [RCV000171154]	pathogenic\|likely pathogenic\|no classifications from unflagged records	1	94014611	94014612	Human		alternate_id
10049331	CV190248	single nucleotide variant	NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)	PRPH2-related disorder [RCV001232080]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250295]\|Stargardt disease [RCV001250296]\|not provided [RCV000173108]	uncertain significance	6	42722064	42722064	Human	2	alternate_id
10050638	CV192224	single nucleotide variant	NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)	PRPH2-related disorder [RCV001463523]\|Stargardt disease [RCV001250337]\|Usher syndrome [RCV003389460]\|not provided [RCV000175581]	likely pathogenic\|likely benign\|uncertain significance	6	42704468	42704468	Human	3	alternate_id
156158808	CV1928430	single nucleotide variant	NM_000350.3(ABCA4):c.6289C>T (p.Pro2097Ser)	Stargardt disease [RCV005419575]\|not provided [RCV002664166]	pathogenic	1	94001099	94001099	Human	1	alternate_id
156311307	CV1928467	single nucleotide variant	NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)	Stargardt disease [RCV003324587]\|not provided [RCV002648183]	pathogenic\|likely pathogenic	1	94121044	94121044	Human	1	alternate_id
10052024	CV194216	single nucleotide variant	NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)	Retinal dystrophy [RCV004816288]\|Severe early-childhood-onset retinal dystrophy [RCV000296428]\|not provided [RCV000790718]	pathogenic\|likely pathogenic\|uncertain significance	1	94011297	94011297	Human	4	alternate_id
10049004	CV195380	deletion	NM_130837.3(OPA1):c.800_801del (p.Lys267fs)	Autosomal dominant optic atrophy classic form [RCV002288784]\|Inborn genetic diseases [RCV000623100]\|Optic atrophy [RCV004816301]\|Stargardt disease [RCV003389462]\|not provided [RCV000517030]	pathogenic	3	193631621	193631622	Human	6	alternate_id
10049150	CV195881	single nucleotide variant	NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)	Cone-rod dystrophy 3 [RCV005025288]\|Retinitis pigmentosa 19 [RCV005252791]\|not provided [RCV000180146]	pathogenic	1	94080697	94080697	Human	2	alternate_id
8558559	CV20266	single nucleotide variant	NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)	Achromatopsia 3 [RCV000497748]\|Achromatopsia [RCV001276134]\|Severe early-childhood-onset retinal dystrophy [RCV000005538]\|not provided [RCV000881356]\|not specified [RCV000378015]	pathogenic\|likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	86628994	86628994	Human	6	alternate_id
155954677	CV2033327	single nucleotide variant	NM_000350.3(ABCA4):c.3308T>G (p.Leu1103Arg)	Severe early-childhood-onset retinal dystrophy [RCV004559966]\|not provided [RCV002730866]	pathogenic	1	94042781	94042781	Human	2	alternate_id
156348626	CV2061968	single nucleotide variant	NM_000350.3(ABCA4):c.1901T>C (p.Leu634Pro)	Severe early-childhood-onset retinal dystrophy [RCV003445179]\|not provided [RCV002811614]	uncertain significance	1	94062613	94062613	Human	2	alternate_id
155954586	CV2086876	single nucleotide variant	NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)	Severe early-childhood-onset retinal dystrophy [RCV004565630]\|not provided [RCV002862529]	pathogenic\|likely pathogenic	1	94000918	94000918	Human	2	alternate_id
10409059	CV209342	single nucleotide variant	NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	Cone-rod dystrophy 3 [RCV000194199]\|Cone-rod dystrophy 3 [RCV002485297]\|Retinal dystrophy [RCV001075570]\|Severe early-childhood-onset retinal dystrophy [RCV000408459]\|not provided [RCV001071977]	pathogenic\|likely pathogenic	1	94060733	94060733	Human	8	alternate_id
10409123	CV209475	single nucleotide variant	NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV002399731]\|SKI-related disorder [RCV003907725]\|Shprintzen-Goldberg syndrome [RCV000638898]\|not provided [RCV003456375]\|not specified [RCV000195482]	pathogenic\|likely benign\|uncertain significance	1	2304346	2304346	Human	5	alternate_id
10410228	CV209875	single nucleotide variant	NM_001105206.3(LAMA4):c.3122C>G (p.Ala1041Gly)	Cardiovascular phenotype [RCV004020372]\|Dilated cardiomyopathy 1JJ [RCV001371398]\|not provided [RCV000197744]	pathogenic\|uncertain significance	6	112139280	112139280	Human	3	alternate_id
156155618	CV2100504	single nucleotide variant	NM_000350.3(ABCA4):c.4254-5T>A	Stargardt disease [RCV005239521]\|not provided [RCV002872475]	likely pathogenic\|uncertain significance	1	94030531	94030531	Human	1	alternate_id
156085507	CV2138485	single nucleotide variant	NM_000350.3(ABCA4):c.302+4A>G	Cone-rod dystrophy 3 [RCV004796749]\|not provided [RCV002979411]	likely pathogenic\|uncertain significance	1	94111434	94111434	Human	1	alternate_id
156308934	CV2163863	single nucleotide variant	NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)	Severe early-childhood-onset retinal dystrophy [RCV004565656]\|not provided [RCV003045921]	likely pathogenic	1	94025030	94025030	Human	2	alternate_id
10766753	CV217189	single nucleotide variant	NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr)	Severe early-childhood-onset retinal dystrophy [RCV000203500]\|not provided [RCV002517367]	likely pathogenic\|uncertain significance	1	94063227	94063227	Human	2	alternate_id
11051482	CV226523	deletion	NM_000350.3(ABCA4):c.2713del (p.Glu905fs)	ABCA4-related disorder [RCV000785052]\|Retinal dystrophy [RCV000210324]\|Severe early-childhood-onset retinal dystrophy [RCV004556765]\|not provided [RCV001853370]	pathogenic\|likely pathogenic	1	94048898	94048898	Human	4	alternate_id
26910060	CV227508	single nucleotide variant	NM_000350.3(ABCA4):c.302+68C>T	Retinal dystrophy [RCV001074350]\|Severe early-childhood-onset retinal dystrophy [RCV001376346]	uncertain significance	1	94111370	94111370	Human	4	alternate_id
11598653	CV227509	single nucleotide variant	NM_000350.3(ABCA4):c.4539+2028C>T	ABCA4-related disorder [RCV004529387]\|Retinal dystrophy [RCV001074348]\|Severe early-childhood-onset retinal dystrophy [RCV000408506]\|not provided [RCV001380975]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94027417	94027417	Human	4	alternate_id
11087588	CV227510	deletion	NM_000350.3(ABCA4):c.6148-698_6670del	Severe early-childhood-onset retinal dystrophy [RCV000210994]	likely pathogenic	1	93997920	94002690	Human	2	alternate_id
8560171	CV22919	single nucleotide variant	NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	ABCA4-related disorder [RCV004732538]\|Cone-rod dystrophy 3 [RCV005025030]\|Retinal dystrophy [RCV001073603]\|Retinitis pigmentosa 19 [RCV001807722]\|Severe early-childhood-onset retinal dystrophy [RCV000008330]\|Stargardt disease [RCV001002838]\|not provided [RCV0000 ... (more) 85506]\|not specified [RCV002247267]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94047046	94047046	Human	8	alternate_id
8560172	CV22920	single nucleotide variant	NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val)	Severe early-childhood-onset retinal dystrophy [RCV000008331]\|not provided [RCV001040974]	pathogenic\|uncertain significance	1	94043443	94043443	Human	2	alternate_id
8560173	CV22921	single nucleotide variant	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	Age related macular degeneration 2 [RCV002247268]\|Cone-rod dystrophy 3 [RCV000008333]\|Cone-rod dystrophy 3 [RCV000763438]\|Retinal dystrophy [RCV001074885]\|Severe early-childhood-onset retinal dystrophy [RCV000008332]\|Stargardt disease [RCV000826132]\|not provided ... (more) [RCV000085785]	pathogenic\|likely pathogenic\|not provided	1	94005509	94005509	Human	8	alternate_id
8560174	CV22922	single nucleotide variant	NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)	Severe early-childhood-onset retinal dystrophy [RCV000008334]\|not provided [RCV000085489]	pathogenic\|not provided	1	94055133	94055133	Human	2	alternate_id
8560177	CV22925	single nucleotide variant	NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	Cone-rod dystrophy 3 [RCV004795382]\|Severe early-childhood-onset retinal dystrophy [RCV000008337]\|Stargardt disease [RCV003398468]\|not provided [RCV000085548]	pathogenic\|likely pathogenic\|not provided	1	94043420	94043420	Human	6	alternate_id
8654645	CV22926	insertion	NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)	Severe early-childhood-onset retinal dystrophy [RCV000008338]\|not provided [RCV000085558]	pathogenic\|not provided	1	94042878	94042879	Human	2	alternate_id
8560178	CV22927	single nucleotide variant	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4-related disorder [RCV000273328]\|ABCA4-related retinopathy [RCV003324710]\|Age related macular degeneration 2 [RCV000678513]\|Cone dystrophy [RCV005417422]\|Cone-rod dystrophy 3 [RCV000008341]\|Cone-rod dystrophy 3 [RCV001254602]\|Cone-rod dystrophy 3 [RCV005031424]\|Inborn genetic diseases [RCV00062 ... (more) 4210]\|MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO [RCV000008339]\|Macular dystrophy [RCV000504952]\|Retinal dystrophy [RCV000505149]\|Retinitis pigmentosa 19 [RCV001542557]\|Retinitis pigmentosa [RCV002247269]\|See cases [RCV004584319]\|Severe early-childhood-onset retinal dystrophy [RCV000008340]\|Stargardt disease [RCV000787514]\|Syndromic retinitis pigmentosa [RCV005417423]\|not provided [RCV000078670]\|not specified [RCV001731281]	pathogenic\|likely pathogenic\|risk factor\|benign\|conflicting interpretations of pathogenicity\|uncertain significance\|low penetrance\|no classifications from unflagged records\|not provided	1	94008251	94008251	Human	15	alternate_id
8560182	CV22931	single nucleotide variant	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	ABCA4-related disorder [RCV000778995]\|Retinal dystrophy [RCV001073250]\|Severe early-childhood-onset retinal dystrophy [RCV000408598]\|Stargardt disease [RCV000008346]\|Vitreoretinopathy [RCV000787515]\|not provided [RCV000085773]\|not specified [RCV000259062]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94007731	94007731	Human	5	alternate_id
8560183	CV22932	single nucleotide variant	NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)	Stargardt disease [RCV000008347]\|not provided [RCV000085774]	pathogenic\|not provided	1	94007727	94007727	Human	1	alternate_id
8560184	CV22933	single nucleotide variant	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4-related disorder [RCV000778259]\|Age related macular degeneration 2 [RCV001196125]\|Cone-rod dystrophy 3 [RCV000008350]\|Cone-rod dystrophy 3 [RCV000763046]\|Cone-rod dystrophy 3 [RCV005357097]\|Macular dystrophy [RCV000787495]\|Optic atrophy [RCV004814860]\|Retinal dystrophy [RCV000505109]\|Retinitis ... (more) pigmentosa [RCV000787494]\|Severe early-childhood-onset retinal dystrophy [RCV000008348]\|Stargardt disease [RCV000787493]\|not provided [RCV000085549]\|not specified [RCV001000014]	pathogenic\|likely pathogenic\|risk factor\|conflicting interpretations of pathogenicity\|not provided	1	94043413	94043413	Human	14	alternate_id
8560186	CV22935	single nucleotide variant	NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)	Severe early-childhood-onset retinal dystrophy [RCV000008353]\|not provided [RCV000085368]	pathogenic\|not provided	1	94080559	94080559	Human	2	alternate_id
8560189	CV22938	single nucleotide variant	NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	Retinal dystrophy [RCV001075717]\|Severe early-childhood-onset retinal dystrophy [RCV000008356]\|Stargardt disease 3 [RCV004558241]\|not provided [RCV000085719]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94120994	94120994	Human	5	alternate_id
8560190	CV22939	single nucleotide variant	NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)	Cone-rod dystrophy 3 [RCV005031425]\|Retinal dystrophy [RCV001074326]\|Severe early-childhood-onset retinal dystrophy [RCV000008357]\|not provided [RCV000085416]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94063157	94063157	Human	8	alternate_id
8645548	CV22940	single nucleotide variant	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4-related disorder [RCV004528784]\|Age related macular degeneration 2 [RCV001196126]\|Macular dystrophy [RCV000787482]\|Retinal dystrophy [RCV000505133]\|Retinitis pigmentosa [RCV000504750]\|Severe early-childhood-onset retinal dystrophy [RCV000408513]\|Stargardt ... (more) disease [RCV000787481]\|not provided [RCV000085410]\|not specified [RCV001002385]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94063250	94063250	Human	10	alternate_id
8560192	CV22942	single nucleotide variant	NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	ABCA4-related disorder [RCV001096421]\|Cone-Rod Dystrophy, Recessive [RCV000343774]\|Cone-rod dystrophy 3 [RCV000008361]\|Macular degeneration [RCV000401597]\|Retinal dystrophy [RCV004814861]\|Retinitis Pigmentosa, Recessive [RCV000340328]\|Severe early-childhood-onset retinal dystrophy [RCV000408567]\|... (more) an style='font-weight:700;'>Stargardt Disease, Recessive [RCV000308786]\|not provided [RCV000085583]\|not specified [RCV000176456]	pathogenic\|likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|no classifications from unflagged records\|not provided	1	94040048	94040048	Human	9	alternate_id
8560193	CV22943	single nucleotide variant	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4-related disorder [RCV000778258]\|Cone-rod dystrophy 3 [RCV000763044]\|Cone-rod dystrophy 3 [RCV004786246]\|MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO [RCV000023139]\|Mandibulofacial dysostosis with mental deficiency [RCV000454310]\|Retinal dystrophy [RCV001075868]\|Severe early-childhoo ... (more) d-onset retinal dystrophy [RCV000008362]\|Stargardt disease [RCV000787498]\|not provided [RCV000078666]	pathogenic\|likely pathogenic\|risk factor\|conflicting interpretations of pathogenicity\|not provided	1	94031110	94031110	Human	9	alternate_id
8560194	CV22944	deletion	NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	Cone-rod dystrophy 3 [RCV000008363]\|Severe early-childhood-onset retinal dystrophy [RCV000986365]\|Stargardt disease 3 [RCV004558242]\|not provided [RCV000085520]	pathogenic\|not provided	1	94046949	94046949	Human	4	alternate_id
8560196	CV22946	single nucleotide variant	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4-related disorder [RCV004528093]\|ABCA4-related retinopathy [RCV002512903]\|Cone-rod dystrophy 3 [RCV000763437]\|Leber congenital amaurosis 14 [RCV003447472]\|Retinal dystrophy [RCV000504794]\|Retinal dystrophy, early-onset severe [RCV000008365]\|Retinitis pigmentosa 19 [RCV001542555]\|Severe early-ch ... (more) ildhood-onset retinal dystrophy [RCV000505162]\|Stargardt disease [RCV000787773]\|not provided [RCV000085786]	pathogenic\|likely pathogenic\|not provided	1	94005500	94005500	Human	10	alternate_id
8560198	CV22948	single nucleotide variant	NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)	Cone-rod dystrophy 3 [RCV000008367]\|Severe early-childhood-onset retinal dystrophy [RCV000008368]	pathogenic	1	94015766	94015766	Human	3	alternate_id
8560200	CV22950	single nucleotide variant	NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	Cone-rod dystrophy 3 [RCV000008372]\|Severe early-childhood-onset retinal dystrophy [RCV000008371]\|Stargardt disease [RCV000008370]\|not provided [RCV000085762]	pathogenic\|likely pathogenic\|not provided	1	94008767	94008767	Human	3	alternate_id
8560201	CV22951	single nucleotide variant	NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	Cone-rod dystrophy 3 [RCV005025031]\|Optic atrophy [RCV004814862]\|Retinal dystrophy [RCV001073346]\|Severe early-childhood-onset retinal dystrophy [RCV000008373]\|not provided [RCV000994036]\|not specified [RCV003317029]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94014665	94014665	Human	10	alternate_id
11664709	CV237631	single nucleotide variant	NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)	Retinal dystrophy [RCV004816436]\|Severe early-childhood-onset retinal dystrophy [RCV000408503]	likely pathogenic	1	93997877	93997877	Human	4	alternate_id
11664724	CV237632	single nucleotide variant	NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)	Cone-rod dystrophy 3 [RCV004783767]\|Retinal dystrophy [RCV004816435]\|Severe early-childhood-onset retinal dystrophy [RCV000408559]\|not provided [RCV001378637]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	93997943	93997943	Human	8	alternate_id
11664747	CV237633	single nucleotide variant	NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)	Retinal dystrophy [RCV004816434]\|Severe early-childhood-onset retinal dystrophy [RCV000408595]\|not provided [RCV001854788]	likely pathogenic\|uncertain significance	1	93998075	93998075	Human	4	alternate_id
11664748	CV237634	single nucleotide variant	NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)	Retinal dystrophy [RCV004816433]\|Severe early-childhood-onset retinal dystrophy [RCV000408599]\|not provided [RCV001055307]	pathogenic\|likely pathogenic\|uncertain significance	1	94001062	94001062	Human	4	alternate_id
11664727	CV237635	indel	NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG	Severe early-childhood-onset retinal dystrophy [RCV000408569]	pathogenic	1	94001107	94001108	Human		alternate_id
11664695	CV237637	single nucleotide variant	NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)	Cone-rod dystrophy 3 [RCV000763439]\|Retinal dystrophy [RCV004816431]\|Severe early-childhood-onset retinal dystrophy [RCV000408446]\|not provided [RCV000480932]	pathogenic\|likely pathogenic	1	94005511	94005511	Human	8	alternate_id
11664723	CV237638	single nucleotide variant	NM_000350.3(ABCA4):c.5973G>C (p.Val1991=)	Retinal dystrophy [RCV004816430]\|Severe early-childhood-onset retinal dystrophy [RCV000408558]	uncertain significance	1	94007666	94007666	Human	4	alternate_id
11598681	CV237639	single nucleotide variant	NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)	Age related macular degeneration 2 [RCV001197194]\|Retinal dystrophy [RCV004816429]\|Severe early-childhood-onset retinal dystrophy [RCV000408493]	likely pathogenic	1	94007697	94007697	Human	6	alternate_id
11664706	CV237640	single nucleotide variant	NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)	Retinal dystrophy [RCV004816428]\|Severe early-childhood-onset retinal dystrophy [RCV000408495]	likely pathogenic	1	94007730	94007730	Human	4	alternate_id
11598654	CV237641	single nucleotide variant	NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)	ABCA4-related disorder [RCV000778996]\|Retinal dystrophy [RCV004816427]\|Severe early-childhood-onset retinal dystrophy [RCV000408510]\|not provided [RCV001229952]	pathogenic\|likely pathogenic	1	94008252	94008252	Human	4	alternate_id
11598648	CV237643	single nucleotide variant	NM_000350.3(ABCA4):c.5714+4C>T	Retinal dystrophy [RCV004816425]\|Severe early-childhood-onset retinal dystrophy [RCV000408476]\|not provided [RCV001366507]	uncertain significance	1	94010796	94010796	Human	4	alternate_id
11664716	CV237644	single nucleotide variant	NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)	Retinal dystrophy [RCV004816424]\|Severe early-childhood-onset retinal dystrophy [RCV000408529]	likely pathogenic	1	94010858	94010858	Human	4	alternate_id
11664726	CV237646	single nucleotide variant	NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)	Retinal dystrophy [RCV004816422]\|Severe early-childhood-onset retinal dystrophy [RCV000408565]	likely pathogenic	1	94011288	94011288	Human	4	alternate_id
11664740	CV237647	single nucleotide variant	NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)	Retinal dystrophy [RCV004816421]\|Severe early-childhood-onset retinal dystrophy [RCV000408470]\|not provided [RCV001854787]	pathogenic\|likely pathogenic	1	94011333	94011333	Human	4	alternate_id
11598655	CV237648	single nucleotide variant	NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)	Retinal dystrophy [RCV004816420]\|Severe early-childhood-onset retinal dystrophy [RCV000408514]\|not provided [RCV003556287]	pathogenic\|likely pathogenic	1	94011334	94011334	Human	4	alternate_id
11598643	CV237649	single nucleotide variant	NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)	Inborn genetic diseases [RCV004629171]\|Retinal dystrophy [RCV004816419]\|Severe early-childhood-onset retinal dystrophy [RCV000408453]\|not provided [RCV001854786]	likely benign\|uncertain significance	1	94011368	94011368	Human	5	alternate_id
11598666	CV237651	single nucleotide variant	NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	ABCA4-related disorder [RCV004732802]\|Cone-rod dystrophy 3 [RCV002485455]\|Retinal dystrophy [RCV001074401]\|Retinitis pigmentosa 19 [RCV005252827]\|Severe early-childhood-onset retinal dystrophy [RCV000408555]\|Stargardt disease [RCV000826133]\|not provided [RCV0004 ... (more) 41041]	pathogenic\|likely pathogenic	1	94014685	94014685	Human	8	alternate_id
11664711	CV237652	single nucleotide variant	NM_000350.3(ABCA4):c.5312+1G>A	Age related macular degeneration 2 [RCV001196916]\|Cone-rod dystrophy [RCV002267732]\|Retinal dystrophy [RCV001073541]\|Severe early-childhood-onset retinal dystrophy [RCV000408509]\|Stargardt disease [RCV005418025]\|not provided [RCV001383600]	pathogenic	1	94015738	94015738	Human	9	alternate_id
11664725	CV237653	single nucleotide variant	NM_000350.3(ABCA4):c.5196+1056A>G	Age related macular degeneration 2 [RCV002247669]\|Retinal dystrophy [RCV001074079]\|Severe early-childhood-onset retinal dystrophy [RCV000408562]\|not provided [RCV001091511]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94018526	94018526	Human	6	alternate_id
11664704	CV237654	single nucleotide variant	NM_000350.3(ABCA4):c.5196+1013A>G	Severe early-childhood-onset retinal dystrophy [RCV000408490]	uncertain significance	1	94018569	94018569	Human	2	alternate_id
11664701	CV237655	single nucleotide variant	NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	Retinal dystrophy [RCV001075418]\|Severe early-childhood-onset retinal dystrophy [RCV000408479]\|Stargardt disease [RCV001002819]	pathogenic\|likely pathogenic	1	94019589	94019589	Human	4	alternate_id
11598684	CV237657	single nucleotide variant	NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)	ABCA4-related retinopathy [RCV005361363]\|Retinal dystrophy [RCV004816417]\|Retinitis pigmentosa [RCV005238751]\|Severe early-childhood-onset retinal dystrophy [RCV000408584]\|not provided [RCV001854785]	pathogenic\|likely pathogenic\|uncertain significance	1	94019641	94019641	Human	6	alternate_id
11664699	CV237658	single nucleotide variant	NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	Retinal dystrophy [RCV004816416]\|Severe early-childhood-onset retinal dystrophy [RCV000408473]\|Stargardt disease [RCV001002822]\|not provided [RCV005090154]	pathogenic\|likely pathogenic	1	94021279	94021279	Human	4	alternate_id
11598665	CV237659	single nucleotide variant	NM_000350.3(ABCA4):c.4773+3A>G	Cone-rod dystrophy 3 [RCV005025377]\|Retinal dystrophy [RCV000787761]\|Severe early-childhood-onset retinal dystrophy [RCV000408554]\|not provided [RCV000425309]	pathogenic\|uncertain significance	1	94021843	94021843	Human	8	alternate_id
11598642	CV237660	single nucleotide variant	NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)	Retinal dystrophy [RCV004816415]\|Severe early-childhood-onset retinal dystrophy [RCV000408448]\|Stargardt disease [RCV005418024]\|not provided [RCV000761665]	likely pathogenic\|conflicting interpretations of pathogenicity	1	94021880	94021880	Human	4	alternate_id
11664703	CV237661	deletion	NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)	Retinal dystrophy [RCV004816414]\|Severe early-childhood-onset retinal dystrophy [RCV000408489]	pathogenic	1	94023413	94023413	Human	4	alternate_id
11664745	CV237662	single nucleotide variant	NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=)	Retinal dystrophy [RCV004816413]\|Severe early-childhood-onset retinal dystrophy [RCV000408590]	uncertain significance	1	94023418	94023418	Human	4	alternate_id
11664720	CV237664	single nucleotide variant	NM_000350.3(ABCA4):c.4540-2036C>A	Severe early-childhood-onset retinal dystrophy [RCV000408541]\|not specified [RCV000607126]	likely benign\|uncertain significance	1	94027084	94027084	Human	2	alternate_id
11598685	CV237665	single nucleotide variant	NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	ABCA4-related disorder [RCV004732801]\|Cone-rod dystrophy 3 [RCV005031808]\|Retinal dystrophy [RCV001074181]\|Severe early-childhood-onset retinal dystrophy [RCV000408586]\|Stargardt disease [RCV003401161]\|not provided [RCV001380976]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94029465	94029465	Human	8	alternate_id
11664702	CV237666	single nucleotide variant	NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)	Retinal dystrophy [RCV004816412]\|Severe early-childhood-onset retinal dystrophy [RCV000408486]\|not provided [RCV002519761]	pathogenic	1	94029630	94029630	Human	4	alternate_id
11598669	CV237667	single nucleotide variant	NM_000350.3(ABCA4):c.4352+1G>A	Retinal dystrophy [RCV003888652]\|Severe early-childhood-onset retinal dystrophy [RCV000408571]\|Stargardt disease [RCV005418023]\|not provided [RCV001854784]	pathogenic\|likely pathogenic	1	94030427	94030427	Human	4	alternate_id
11664713	CV237668	single nucleotide variant	NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)	Retinal dystrophy [RCV004816411]\|Severe early-childhood-onset retinal dystrophy [RCV000408520]	likely pathogenic	1	94030433	94030433	Human	4	alternate_id
11664712	CV237669	single nucleotide variant	NM_000350.3(ABCA4):c.4254-1G>C	Retinal dystrophy [RCV004816410]\|Severe early-childhood-onset retinal dystrophy [RCV000408511]\|not provided [RCV001543439]	pathogenic\|likely pathogenic	1	94030527	94030527	Human	4	alternate_id
11598645	CV237670	single nucleotide variant	NM_000350.3(ABCA4):c.4253+5G>A	Cone-rod dystrophy 3 [RCV005025376]\|Retinal dystrophy [RCV000504972]\|Retinitis pigmentosa [RCV004526649]\|Severe early-childhood-onset retinal dystrophy [RCV000408462]\|Stargardt disease [RCV000515660]\|not provided [RCV001854783]	pathogenic\|likely pathogenic	1	94030991	94030991	Human	10	alternate_id
11598664	CV237671	single nucleotide variant	NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)	ABCA4-related disorder [RCV000778257]\|Retinal dystrophy [RCV004816409]\|Severe early-childhood-onset retinal dystrophy [RCV000408552]	pathogenic\|likely pathogenic	1	94031054	94031054	Human	4	alternate_id
11598652	CV237672	single nucleotide variant	NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)	Retinal dystrophy [RCV004816408]\|Severe early-childhood-onset retinal dystrophy [RCV000408505]\|not provided [RCV001240711]	likely benign\|uncertain significance	1	94031109	94031109	Human	4	alternate_id
11598662	CV237674	single nucleotide variant	NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)	Age related macular degeneration 2 [RCV001198725]\|Retinal dystrophy [RCV004816406]\|Severe early-childhood-onset retinal dystrophy [RCV000408545]\|not provided [RCV001092801]	pathogenic	1	94032035	94032035	Human	6	alternate_id
11664707	CV237675	single nucleotide variant	NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)	Retinal dystrophy [RCV004816405]\|Severe early-childhood-onset retinal dystrophy [RCV000408497]	likely pathogenic	1	94036787	94036787	Human	4	alternate_id
11664719	CV237677	duplication	NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)	Retinal dystrophy [RCV004816403]\|Severe early-childhood-onset retinal dystrophy [RCV000408539]\|not provided [RCV001854782]	pathogenic	1	94040117	94040118	Human	4	alternate_id
11598646	CV237678	single nucleotide variant	NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	Autosomal recessive retinitis pigmentosa [RCV001257844]\|Cone-rod dystrophy 3 [RCV005025375]\|Cone-rod dystrophy [RCV002267731]\|Retinal dystrophy [RCV004816402]\|Severe early-childhood-onset retinal dystrophy [RCV000408467]\|Stargardt disease [RCV003330593]\|not prov ... (more) ided [RCV000761669]	pathogenic\|likely pathogenic	1	94041249	94041249	Human	12	alternate_id
11598657	CV237680	single nucleotide variant	NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)	Age related macular degeneration 2 [RCV001196593]\|Cone-rod dystrophy 3 [RCV004796121]\|Retinal dystrophy [RCV001074682]\|Severe early-childhood-onset retinal dystrophy [RCV000408518]\|not provided [RCV000478178]	pathogenic\|likely pathogenic	1	94042797	94042797	Human	8	alternate_id
11664696	CV237682	deletion	NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)	Cone-rod dystrophy 3 [RCV000449544]\|Retinal dystrophy [RCV004816400]\|Severe early-childhood-onset retinal dystrophy [RCV000408456]\|not provided [RCV001543589]	pathogenic	1	94043433	94043433	Human	5	alternate_id
11664749	CV237683	single nucleotide variant	NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe)	Retinal dystrophy [RCV004816399]\|Retinitis pigmentosa 19 [RCV005252826]\|Severe early-childhood-onset retinal dystrophy [RCV000408600]	uncertain significance	1	94044723	94044723	Human	5	alternate_id
11664721	CV237684	single nucleotide variant	NM_000350.3(ABCA4):c.2919-10T>C	ABCA4-related disorder [RCV001099947]\|Retinal dystrophy [RCV004816398]\|Severe early-childhood-onset retinal dystrophy [RCV000408547]\|not provided [RCV003556286]	likely pathogenic\|uncertain significance	1	94044754	94044754	Human	4	alternate_id
11598647	CV237687	single nucleotide variant	NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)	Retinal dystrophy [RCV004816395]\|Severe early-childhood-onset retinal dystrophy [RCV000408471]	pathogenic	1	94048919	94048919	Human	4	alternate_id
11598659	CV237688	single nucleotide variant	NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)	ABCA4-related disorder [RCV004532828]\|Retinal dystrophy [RCV001074708]\|Severe early-childhood-onset retinal dystrophy [RCV000408530]\|Stargardt disease [RCV005406968]\|not provided [RCV000490201]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94051677	94051677	Human	4	alternate_id
11598668	CV237689	single nucleotide variant	NM_000350.3(ABCA4):c.2160+1G>T	Retinal dystrophy [RCV001075206]\|Retinitis pigmentosa 19 [RCV001352989]\|Severe early-childhood-onset retinal dystrophy [RCV000408563]\|not provided [RCV001854780]	pathogenic\|likely pathogenic	1	94060536	94060536	Human	5	alternate_id
11598667	CV237690	single nucleotide variant	NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)	Retinal dystrophy [RCV004816394]\|Severe early-childhood-onset retinal dystrophy [RCV000408560]	likely pathogenic	1	94062596	94062596	Human	4	alternate_id
11664746	CV237691	single nucleotide variant	NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)	Retinal dystrophy [RCV004816393]\|Severe early-childhood-onset retinal dystrophy [RCV000408594]\|not provided [RCV005090153]	pathogenic\|likely pathogenic	1	94062623	94062623	Human	4	alternate_id
11598661	CV237692	single nucleotide variant	NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)	ABCA4-related disorder [RCV004732800]\|Cone-rod dystrophy 3 [RCV001723810]\|Retinal dystrophy [RCV001074552]\|Retinitis pigmentosa [RCV004782319]\|Severe early-childhood-onset retinal dystrophy [RCV000408543]\|not provided [RCV001090315]	pathogenic\|likely pathogenic	1	94062692	94062692	Human	7	alternate_id
11664717	CV237693	single nucleotide variant	NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly)	Retinal dystrophy [RCV004816392]\|Severe early-childhood-onset retinal dystrophy [RCV000408533]	uncertain significance	1	94062721	94062721	Human	4	alternate_id
11664728	CV237694	single nucleotide variant	NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)	Retinal dystrophy [RCV004816391]\|Severe early-childhood-onset retinal dystrophy [RCV000408573]\|Stargardt disease [RCV000787483]	likely pathogenic	1	94063153	94063153	Human	4	alternate_id
11578838	CV237695	single nucleotide variant	NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)	ABCA4-related disorder [RCV001100049]\|Cone-Rod Dystrophy, Recessive [RCV000339859]\|Inborn genetic diseases [RCV003258709]\|Macular degeneration [RCV000325173]\|Retinal dystrophy [RCV004816390]\|Retinitis Pigmentosa, Recessive [RCV000382014]\|Severe early-childhood-onset retinal dystrophy [RCV000408477]\| ... (more) Stargardt Disease, Recessive [RCV000290027]\|not provided [RCV001441278]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	94063180	94063180	Human	9	alternate_id
11579236	CV237696	single nucleotide variant	NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	ABCA4-related disorder [RCV001100053]\|Cone-Rod Dystrophy, Recessive [RCV000298675]\|Inborn genetic diseases [RCV004020725]\|Macular degeneration [RCV000312006]\|Retinal dystrophy [RCV003888651]\|Retinitis Pigmentosa, Recessive [RCV000337235]\|Severe early-childhood-onset retinal dystrophy [RCV000408457]\| ... (more) Stargardt Disease, Recessive [RCV000391529]\|not provided [RCV001522285]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	94063258	94063258	Human	9	alternate_id
11664715	CV237697	single nucleotide variant	NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)	Retinal dystrophy [RCV004816389]\|Severe early-childhood-onset retinal dystrophy [RCV000408522]\|not provided [RCV005090152]	pathogenic	1	94063288	94063288	Human	4	alternate_id
11664722	CV237698	single nucleotide variant	NM_000350.3(ABCA4):c.1357-2A>G	Retinal dystrophy [RCV004816388]\|Severe early-childhood-onset retinal dystrophy [RCV000408557]\|not provided [RCV005090151]	pathogenic\|likely pathogenic	1	94077889	94077889	Human	4	alternate_id
11664705	CV237699	single nucleotide variant	NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)	Age related macular degeneration 2 [RCV001198958]\|Retinal dystrophy [RCV004816387]\|Severe early-childhood-onset retinal dystrophy [RCV000408492]\|not provided [RCV001091615]	pathogenic	1	94078653	94078653	Human	6	alternate_id
11598644	CV237700	single nucleotide variant	NM_000350.3(ABCA4):c.1239+1G>C	Retinal dystrophy [RCV004816386]\|Retinitis pigmentosa [RCV005237763]\|Severe early-childhood-onset retinal dystrophy [RCV000408454]\|not provided [RCV001091616]	pathogenic	1	94079321	94079321	Human	6	alternate_id
11598650	CV237701	single nucleotide variant	NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)	Cone-rod dystrophy 3 [RCV005025373]\|Retinal dystrophy [RCV001074163]\|Severe early-childhood-onset retinal dystrophy [RCV000408494]\|not provided [RCV000414174]	pathogenic	1	94080491	94080491	Human	8	alternate_id
11664718	CV237702	single nucleotide variant	NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)	Cone-rod dystrophy 3 [RCV002478825]\|Retinal dystrophy [RCV004816385]\|Severe early-childhood-onset retinal dystrophy [RCV000408537]	uncertain significance	1	94080568	94080568	Human	8	alternate_id
11664714	CV237705	single nucleotide variant	NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)	Retinal dystrophy [RCV004816383]\|Severe early-childhood-onset retinal dystrophy [RCV000408521]	pathogenic	1	94111534	94111534	Human	4	alternate_id
11598658	CV237706	single nucleotide variant	NM_000350.3(ABCA4):c.180G>C (p.Ala60=)	Retinal dystrophy [RCV004816382]\|Severe early-childhood-onset retinal dystrophy [RCV000408524]	uncertain significance	1	94111560	94111560	Human	4	alternate_id
11664708	CV237707	single nucleotide variant	NM_000350.3(ABCA4):c.160+2T>C	Retinal dystrophy [RCV004816381]\|Severe early-childhood-onset retinal dystrophy [RCV000408498]	pathogenic	1	94112971	94112971	Human	4	alternate_id
11664698	CV237708	single nucleotide variant	NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)	Cone-rod dystrophy 3 [RCV002485454]\|Retinal dystrophy [RCV004816380]\|Severe early-childhood-onset retinal dystrophy [RCV000408466]	likely pathogenic	1	94112973	94112973	Human	8	alternate_id
11664710	CV237709	single nucleotide variant	NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)	Retinal dystrophy [RCV004816379]\|Severe early-childhood-onset retinal dystrophy [RCV000408508]	likely pathogenic	1	94113047	94113047	Human	4	alternate_id
11598683	CV237710	single nucleotide variant	NM_000350.3(ABCA4):c.67-1G>C	Retinal dystrophy [RCV004816378]\|Severe early-childhood-onset retinal dystrophy [RCV000408582]\|not provided [RCV001091620]	pathogenic	1	94113067	94113067	Human	4	alternate_id
156204630	CV2401436	deletion	NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)	Retinitis pigmentosa 19 [RCV002789986]\|Retinitis pigmentosa [RCV005419588]\|Severe early-childhood-onset retinal dystrophy [RCV003229942]	pathogenic\|likely pathogenic	1	94010877	94010877	Human	5	alternate_id
11346816	CV242589	single nucleotide variant	NM_018127.7(ELAC2):c.1458T>C (p.Leu486=)	Combined oxidative phosphorylation defect type 17 [RCV001493371]\|not provided [RCV005411256]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	17	12998474	12998474	Human	9	alternate_id
11543427	CV250030	single nucleotide variant	NM_000350.3(ABCA4):c.5836-43C>A	Age related macular degeneration 2 [RCV001549135]\|Cone-rod dystrophy 3 [RCV001549134]\|Retinitis pigmentosa 19 [RCV001548901]\|Severe early-childhood-onset retinal dystrophy [RCV001548900]\|not provided [RCV001541669]\|not specified [RCV000242440]	benign	1	94008340	94008340	Human	6	alternate_id
11548999	CV250031	deletion	NM_000350.3(ABCA4):c.4774-17_4774-16del	Age related macular degeneration 2 [RCV001549170]\|Cone-Rod Dystrophy, Recessive [RCV000272427]\|Cone-rod dystrophy 3 [RCV001549169]\|Macular degeneration [RCV000331033]\|Retinitis Pigmentosa, Recessive [RCV000324962]\|Retinitis pigmentosa 19 [RCV001549168]\|Severe early-childhood-onset retinal dystrophy ... (more) [RCV001549167]\|Stargardt Disease, Recessive [RCV000364584]\|not provided [RCV001518238]\|not specified [RCV000249840]	benign	1	94021730	94021731	Human	10	alternate_id
11547664	CV253180	single nucleotide variant	NM_019098.5(CNGB3):c.1781+10A>T	Achromatopsia 3 [RCV000284921]\|Achromatopsia [RCV001833279]\|Severe early-childhood-onset retinal dystrophy [RCV000339899]\|not provided [RCV001516848]\|not specified [RCV000248063]	benign\|likely benign	8	86604083	86604083	Human	6	alternate_id
11545138	CV253181	single nucleotide variant	NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)	Achromatopsia 3 [RCV000498988]\|Achromatopsia [RCV001272738]\|Severe early-childhood-onset retinal dystrophy [RCV001162414]\|not provided [RCV000961874]\|not specified [RCV000244737]	benign\|uncertain significance	8	86629002	86629002	Human	6	alternate_id
11552417	CV253182	single nucleotide variant	NM_019098.5(CNGB3):c.1356G>A (p.Gln452=)	Achromatopsia 3 [RCV000276714]\|Achromatopsia [RCV001833278]\|Severe early-childhood-onset retinal dystrophy [RCV000370896]\|not provided [RCV001510372]\|not specified [RCV000254349]	benign\|likely benign	8	86629043	86629043	Human	6	alternate_id
11543811	CV253184	single nucleotide variant	NM_019098.5(CNGB3):c.919A>G (p.Ile307Val)	Achromatopsia 3 [RCV000286399]\|Achromatopsia [RCV001272487]\|Severe early-childhood-onset retinal dystrophy [RCV000376272]\|not provided [RCV001510548]\|not specified [RCV000242961]	benign\|likely benign	8	86647872	86647872	Human	6	alternate_id
11549655	CV253186	single nucleotide variant	NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)	Achromatopsia 3 [RCV000988079]\|Achromatopsia [RCV001833281]\|Severe early-childhood-onset retinal dystrophy [RCV000364988]\|not provided [RCV001522473]\|not specified [RCV000250693]	benign	8	86667075	86667075	Human	6	alternate_id
11547114	CV253187	single nucleotide variant	NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln)	Achromatopsia 3 [RCV000372970]\|Achromatopsia [RCV001833280]\|Severe early-childhood-onset retinal dystrophy [RCV000316050]\|not provided [RCV001522474]\|not specified [RCV000247338]	benign\|likely benign	8	86668054	86668054	Human	6	alternate_id
11543357	CV253188	single nucleotide variant	NM_019098.5(CNGB3):c.354G>T (p.Pro118=)	Achromatopsia 3 [RCV001161027]\|Achromatopsia [RCV001272491]\|Severe early-childhood-onset retinal dystrophy [RCV001161026]\|not provided [RCV000961891]\|not specified [RCV000242350]	benign\|likely benign	8	86671083	86671083	Human	6	alternate_id
11545415	CV253190	single nucleotide variant	NM_019098.5(CNGB3):c.211+13T>G	Achromatopsia 3 [RCV000357426]\|Severe early-childhood-onset retinal dystrophy [RCV000274434]\|not provided [RCV001513345]\|not specified [RCV000245103]	benign\|likely benign	8	86739642	86739642	Human	3	alternate_id
11560243	CV259680	single nucleotide variant	NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	Cone-rod dystrophy 3 [RCV005025404]\|Retinal dystrophy [RCV001075471]\|Retinitis pigmentosa 19 [RCV002518745]\|Severe early-childhood-onset retinal dystrophy [RCV000504776]\|not provided [RCV000256006]	pathogenic	1	94062608	94062608	Human	8	alternate_id
11558123	CV259682	single nucleotide variant	NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)	ABCA4-related disorder [RCV004542963]\|Cone-rod dystrophy 3 [RCV000764206]\|not provided [RCV000255612]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	94083372	94083372	Human	6	alternate_id
11560045	CV259684	single nucleotide variant	NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)	Cone-rod dystrophy 3 [RCV005025403]\|Retinal dystrophy [RCV001075801]\|not provided [RCV000255556]	pathogenic	1	94098907	94098907	Human	3	alternate_id
11558254	CV260778	single nucleotide variant	NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)	Cone-rod dystrophy 3 [RCV000256375]\|Severe early-childhood-onset retinal dystrophy [RCV004563295]\|not provided [RCV001859496]	pathogenic\|likely pathogenic	1	94014670	94014670	Human	3	alternate_id
11639540	CV265376	single nucleotide variant	NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)	ABCB4-related disorder [RCV004529459]\|Cholestasis, intrahepatic, of pregnancy, 3 [RCV001164952]\|Progressive familial intrahepatic cholestasis type 1 [RCV000987905]\|Progressive familial intrahepatic cholestasis type 3 [RCV001164953]\|See cases [RCV002252078]\|Severe early-childhood-onset retinal dystro ... (more) phy [RCV003989517]\|not provided [RCV000413855]\|not specified [RCV000322710]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	87412017	87412017	Human	5	alternate_id
11637902	CV266497	single nucleotide variant	NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)	Cone-rod dystrophy 3 [RCV005031851]\|Severe early-childhood-onset retinal dystrophy [RCV002250614]\|not provided [RCV000291561]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94005475	94005475	Human	6	alternate_id
401735285	CV2672019	single nucleotide variant	NM_000350.3(ABCA4):c.4897G>A (p.Val1633Met)	Severe early-childhood-onset retinal dystrophy [RCV003238174]	uncertain significance	1	94021361	94021361	Human	2	alternate_id
11637433	CV267810	deletion	NM_000350.3(ABCA4):c.6729+5_6729+19del	Age related macular degeneration 2 [RCV001542553]\|Cone-rod dystrophy 3 [RCV000416441]\|Cone-rod dystrophy 3 [RCV002480011]\|Retinal dystrophy [RCV001074704]\|Retinitis pigmentosa 19 [RCV000678515]\|Retinitis pigmentosa [RCV000504933]\|not provided [RCV000497773]	pathogenic\|likely pathogenic\|uncertain significance	1	93997842	93997856	Human	7	alternate_id
11577705	CV268056	single nucleotide variant	NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe)	Achromatopsia 3 [RCV000265676]\|Severe early-childhood-onset retinal dystrophy [RCV000302120]\|not provided [RCV000312509]	uncertain significance	8	86667107	86667107	Human	3	alternate_id
11635937	CV268061	single nucleotide variant	NM_019098.5(CNGB3):c.1833C>T (p.His611=)	Achromatopsia 3 [RCV001164345]\|Achromatopsia [RCV001272479]\|Severe early-childhood-onset retinal dystrophy [RCV001164346]\|not provided [RCV000259449]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	86579201	86579201	Human	6	alternate_id
11639176	CV271072	single nucleotide variant	NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)	ABCA4-related disorder [RCV001101951]\|Cone-rod dystrophy 3 [RCV002487242]\|Cone-rod dystrophy 3 [RCV004786655]\|Retinal dystrophy [RCV001075267]\|not provided [RCV000316390]	uncertain significance	1	94047018	94047018	Human	8	alternate_id
11643206	CV272562	single nucleotide variant	NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys)	Cone-rod dystrophy 3 [RCV005025431]\|Retinal dystrophy [RCV004816512]\|Stargardt disease [RCV004586668]\|not provided [RCV000388365]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94078603	94078603	Human	4	alternate_id
11580297	CV272578	single nucleotide variant	NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)	Cone-rod dystrophy 3 [RCV005025432]\|Retinal dystrophy [RCV001074658]\|Severe early-childhood-onset retinal dystrophy [RCV000329208]\|Stargardt disease 3 [RCV004558613]\|not provided [RCV000478104]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94060674	94060674	Human	9	alternate_id
11643914	CV272971	single nucleotide variant	NM_019098.5(CNGB3):c.912C>T (p.Val304=)	Achromatopsia 3 [RCV001159528]\|Achromatopsia [RCV001828257]\|Severe early-childhood-onset retinal dystrophy [RCV001159529]\|not provided [RCV000892241]\|not specified [RCV000401931]	benign\|likely benign\|uncertain significance	8	86647879	86647879	Human	6	alternate_id
11582292	CV273547	single nucleotide variant	NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	Cone-rod dystrophy 3 [RCV005025438]\|Retinal dystrophy [RCV001074386]\|Retinitis pigmentosa 19 [RCV005252863]\|Severe early-childhood-onset retinal dystrophy [RCV004558614]\|Stargardt disease [RCV001002835]\|not provided [RCV000412846]	pathogenic\|likely pathogenic	1	94043470	94043470	Human	8	alternate_id
401829074	CV2743578	single nucleotide variant	NM_000350.3(ABCA4):c.769-784C>T	ABCA4-related disorder [RCV004529625]\|Optic atrophy [RCV004818325]\|Retinal dystrophy [RCV004818324]\|Stargardt disease [RCV005406664]\|not provided [RCV003326754]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94084225	94084225	Human	6	alternate_id
11638731	CV275240	single nucleotide variant	NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)	Achromatopsia 3 [RCV001160803]\|Achromatopsia [RCV001276130]\|Severe early-childhood-onset retinal dystrophy [RCV001160802]\|not provided [RCV000308981]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	86626051	86626051	Human	6	alternate_id
401855365	CV2752887	duplication	NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs)	Severe early-childhood-onset retinal dystrophy [RCV003337941]\|not provided [RCV003679189]	pathogenic\|likely pathogenic	1	94014631	94014632	Human	2	alternate_id
401928113	CV2795523	deletion	NM_000350.3(ABCA4):c.3732del (p.Ser1245fs)	Severe early-childhood-onset retinal dystrophy [RCV003389568]	pathogenic	1	94037226	94037226	Human	2	alternate_id
401928308	CV2795539	single nucleotide variant	NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)	Severe early-childhood-onset retinal dystrophy [RCV003389584]	likely pathogenic	1	94062694	94062694	Human	2	alternate_id
401928152	CV2795548	single nucleotide variant	NM_000350.3(ABCA4):c.4540-1573C>T	Severe early-childhood-onset retinal dystrophy [RCV003389592]	uncertain significance	1	94026621	94026621	Human	2	alternate_id
401927924	CV2795549	single nucleotide variant	NM_000350.3(ABCA4):c.5714+103A>G	Severe early-childhood-onset retinal dystrophy [RCV003389593]	uncertain significance	1	94010697	94010697	Human	2	alternate_id
401927949	CV2795552	single nucleotide variant	NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)	Severe early-childhood-onset retinal dystrophy [RCV003389596]	likely pathogenic	1	94031057	94031057	Human	2	alternate_id
401928015	CV2795560	single nucleotide variant	NM_000350.3(ABCA4):c.570+1818G>T	Severe early-childhood-onset retinal dystrophy [RCV003389604]	uncertain significance	1	94101197	94101197	Human	2	alternate_id
11581818	CV281365	single nucleotide variant	NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys)	Retinal dystrophy [RCV004816524]\|Severe early-childhood-onset retinal dystrophy [RCV005235252]\|not provided [RCV000413704]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	94041346	94041346	Human	4	alternate_id
8563540	CV28206	single nucleotide variant	NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	Choroidal dystrophy, central areolar 2 [RCV000014053]\|Macular dystrophy [RCV000787664]\|PRPH2-related disorder [RCV001054658]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250353]\|Retinal dystrophy [RCV001074392]\|Retinitis pigmentosa 7 [RCV005234784]\|Retinitis pigmentosa [RCV000787663] ... (more) \|Stargardt disease [RCV001250367]\|Vitelliform macular dystrophy 3 [RCV001799605]\|not provided [RCV000084982]	pathogenic\|likely pathogenic\|not provided	6	42721820	42721820	Human	11	alternate_id
8563543	CV28209	single nucleotide variant	NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	Choroidal dystrophy, central areolar 2 [RCV000014056]\|Cone-rod dystrophy [RCV001250350]\|PRPH2-related disorder [RCV001049315]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250349]\|Patterned macular dystrophy 1 [RCV001352972]\|Retinal dystrophy [RCV003887869]\|Retinitis pigmentosa 7 [RCV ... (more) 002466402]\|Retinitis pigmentosa [RCV001250348]\|Stargardt disease [RCV001250352]\|Vitelliform macular dystrophy 2 [RCV001250351]\|maculopathy [RCV001003147]\|not provided [RCV000084981]	pathogenic\|likely pathogenic\|not provided	6	42721821	42721821	Human	14	alternate_id
8563546	CV28212	single nucleotide variant	NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)	PRPH2-related disorder [RCV000322776]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250287]\|Retinal dystrophy [RCV001074849]\|Stargardt disease [RCV001250286]\|Vitelliform macular dystrophy 2 [RCV001250288]\|Vitelliform macular dystrophy 3 [RCV002508 ... (more) 119]\|not provided [RCV000084997]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	6	42704564	42704564	Human	7	alternate_id
8563550	CV28216	deletion	NM_000322.5(PRPH2):c.113del (p.Gly38fs)	PRPH2-related disorder [RCV001851844]\|Retinal dystrophy [RCV001074733]\|Stargardt disease [RCV001250275]\|Vitelliform macular dystrophy 3 [RCV002508122]\|not provided [RCV000084953]	pathogenic\|not provided	6	42722222	42722222	Human	5	alternate_id
8563551	CV28217	microsatellite	NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)	Cone-rod dystrophy [RCV001250325]\|PRPH2-related disorder [RCV001379857]\|Patterned macular dystrophy 1 [RCV000149467]\|Retinal dystrophy [RCV004814902]\|Retinitis pigmentosa 7 [RCV000014064]\|Stargardt disease [RCV001250324]\|not provided [RCV000084974]	pathogenic\|likely pathogenic\|not provided	6	42721872	42721874	Human		alternate_id
8563552	CV28218	single nucleotide variant	NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	Choroidal dystrophy, central areolar 2 [RCV003987319]\|PRPH2-related disorder [RCV001039794]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250291]\|Patterned macular dystrophy 1 [RCV000987699]\|Retinal dystrophy [RCV001075450]\|Retinitis pigmentosa 7 [RCV000014067]\|Star ... (more) t:700;'>Stargardt disease [RCV001250276]\|not provided [RCV000084955]	pathogenic\|likely pathogenic\|not provided	6	42722199	42722199	Human	8	alternate_id
8563556	CV28222	single nucleotide variant	NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	Choroidal dystrophy, central areolar 2 [RCV000014071]\|Cone dystrophy [RCV000678606]\|PRPH2-related disorder [RCV001061048]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250319]\|Patterned macular dystrophy 1 [RCV001353001]\|Progressive cone dystrophy (without rod involvement) [RCV0007876 ... (more) 61]\|Retinal dystrophy [RCV001075677]\|Retinitis pigmentosa [RCV001250320]\|Stargardt disease [RCV001250318]\|maculopathy [RCV001003149]\|not provided [RCV000084971]	pathogenic\|likely pathogenic\|no classifications from unflagged records\|not provided	6	42721911	42721911	Human	11	alternate_id
401944454	CV2831393	single nucleotide variant	NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)	Cone-rod dystrophy 3 [RCV005036807]\|Severe early-childhood-onset retinal dystrophy [RCV003445397]\|not provided [RCV003553940]	pathogenic	1	94055274	94055274	Human	6	alternate_id
11579110	CV283291	single nucleotide variant	NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys)	ABCA4-related disorder [RCV001102042]\|Cone-Rod Dystrophy, Recessive [RCV000387710]\|Cone-rod dystrophy 3 [RCV005429014]\|Macular degeneration [RCV000343633]\|Retinal dystrophy [RCV004816525]\|Retinitis Pigmentosa, Recessive [RCV000295678]\|Stargardt Disease, Recessiv ... (more) e [RCV000330893]\|not provided [RCV000523526]	likely pathogenic\|uncertain significance\|not provided	1	94078627	94078627	Human	10	alternate_id
11578656	CV283437	single nucleotide variant	NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)	Cone-rod dystrophy 3 [RCV005252868]\|Macular degeneration [RCV000286324]\|Retinal dystrophy [RCV001073691]\|Retinitis Pigmentosa, Recessive [RCV000378419]\|Retinitis pigmentosa [RCV003323503]\|Severe early-childhood-onset retinal dystrophy [RCV001590914]\|not provided [RCV001303441]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94077722	94077722	Human	9	alternate_id
405027975	CV2853301	single nucleotide variant	NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)	Severe early-childhood-onset retinal dystrophy [RCV003494496]	likely pathogenic	1	94000861	94000861	Human	2	alternate_id
405158883	CV2898244	single nucleotide variant	NM_000350.3(ABCA4):c.6479+1G>C	Severe early-childhood-onset retinal dystrophy [RCV005235721]\|not provided [RCV003562249]	pathogenic\|likely pathogenic	1	94000835	94000835	Human	2	alternate_id
405159618	CV2898282	single nucleotide variant	NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)	Cone-rod dystrophy 3 [RCV005036878]\|not provided [RCV003562273]	likely pathogenic	1	94103026	94103026	Human	1	alternate_id
405093263	CV2947162	single nucleotide variant	NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)	Cone-rod dystrophy 3 [RCV004796834]\|not provided [RCV003665440]	pathogenic\|uncertain significance	1	94011360	94011360	Human	1	alternate_id
405077525	CV3008184	duplication	NM_000350.3(ABCA4):c.6705dup (p.Val2236fs)	Cone-rod dystrophy 3 [RCV005030190]\|not provided [RCV003716878]	pathogenic\|likely pathogenic	1	93997884	93997885	Human	1	alternate_id
11608576	CV305952	single nucleotide variant	NM_019098.4(CNGB3):c.*1639C>A	Achromatopsia 3 [RCV000402102]\|Severe early-childhood-onset retinal dystrophy [RCV000356615]\|not provided [RCV004712636]	benign	8	86574165	86574165	Human	3	alternate_id
11606176	CV305953	single nucleotide variant	NM_019098.5(CNGB3):c.*1371G>T	Achromatopsia 3 [RCV000378267]\|Severe early-childhood-onset retinal dystrophy [RCV000328305]	uncertain significance	8	86574433	86574433	Human	3	alternate_id
11606762	CV305957	single nucleotide variant	NM_019098.5(CNGB3):c.*1183T>C	Achromatopsia 3 [RCV000335315]\|Severe early-childhood-onset retinal dystrophy [RCV000375939]	uncertain significance	8	86574621	86574621	Human	3	alternate_id
11607225	CV305964	single nucleotide variant	NM_019098.5(CNGB3):c.*84C>T	Achromatopsia 3 [RCV000399337]\|Severe early-childhood-onset retinal dystrophy [RCV000340724]	uncertain significance	8	86575720	86575720	Human	3	alternate_id
11604063	CV305970	single nucleotide variant	NM_019098.5(CNGB3):c.*51C>T	Achromatopsia 3 [RCV000305713]\|Severe early-childhood-onset retinal dystrophy [RCV000360498]	uncertain significance	8	86575753	86575753	Human	3	alternate_id
11598966	CV305971	single nucleotide variant	NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)	Achromatopsia 3 [RCV000356702]\|Retinal dystrophy [RCV004816625]\|Severe early-childhood-onset retinal dystrophy [RCV000261883]\|not provided [RCV001034257]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	86575926	86575926	Human	5	alternate_id
11603570	CV305972	single nucleotide variant	NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)	Achromatopsia 3 [RCV000301489]\|Achromatopsia [RCV001276129]\|Severe early-childhood-onset retinal dystrophy [RCV000356262]\|not provided [RCV000931567]	likely benign\|uncertain significance	8	86626030	86626030	Human	6	alternate_id
11602403	CV305985	single nucleotide variant	NM_019098.4(CNGB3):c.-32T>C	Achromatopsia 3 [RCV000290745]\|Severe early-childhood-onset retinal dystrophy [RCV000382884]	uncertain significance	8	86743659	86743659	Human	3	alternate_id
407451574	CV3081078	deletion	NM_000350.3(ABCA4):c.5569_5570del (p.Val1857fs)	Severe early-childhood-onset retinal dystrophy [RCV004691594]\|not provided [RCV005101427]	pathogenic\|likely pathogenic	1	94011276	94011277	Human	2	alternate_id
407451669	CV3081089	deletion	NM_000350.3(ABCA4):c.2203del (p.Leu735fs)	Severe early-childhood-onset retinal dystrophy [RCV004691605]	likely pathogenic	1	94056780	94056780	Human	2	alternate_id
11599017	CV309029	single nucleotide variant	NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)	ELOVL4-related disorder [RCV004737455]\|Inborn genetic diseases [RCV002524509]\|Spinocerebellar ataxia type 34 [RCV000765894]\|Stargardt disease 3 [RCV000262008]\|not provided [RCV000595647]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	79924970	79924970	Human	4	alternate_id
11600827	CV309991	single nucleotide variant	NM_019098.5(CNGB3):c.*1470G>C	Achromatopsia 3 [RCV000313249]\|Severe early-childhood-onset retinal dystrophy [RCV000276887]	uncertain significance	8	86574334	86574334	Human	3	alternate_id
11645894	CV309997	single nucleotide variant	NM_019098.5(CNGB3):c.*731C>T	Achromatopsia 3 [RCV000357675]\|Severe early-childhood-onset retinal dystrophy [RCV000267694]	uncertain significance	8	86575073	86575073	Human	3	alternate_id
11598700	CV310004	single nucleotide variant	NM_019098.5(CNGB3):c.*389A>C	Achromatopsia 3 [RCV000259273]\|Severe early-childhood-onset retinal dystrophy [RCV000319178]	benign\|likely benign	8	86575415	86575415	Human	3	alternate_id
11604504	CV310005	single nucleotide variant	NM_019098.5(CNGB3):c.*125G>C	Achromatopsia 3 [RCV000310278]\|Severe early-childhood-onset retinal dystrophy [RCV000398127]	likely benign\|uncertain significance	8	86575679	86575679	Human	3	alternate_id
11606868	CV310008	single nucleotide variant	NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)	Achromatopsia 3 [RCV000336568]\|Achromatopsia [RCV001833481]\|Severe early-childhood-onset retinal dystrophy [RCV000394987]\|not provided [RCV000487572]\|not specified [RCV001700999]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	86626027	86626027	Human	6	alternate_id
11650562	CV310011	single nucleotide variant	NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr)	Achromatopsia 3 [RCV000348660]\|Severe early-childhood-onset retinal dystrophy [RCV000293482]	uncertain significance	8	86667004	86667004	Human	3	alternate_id
11604838	CV310012	single nucleotide variant	NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr)	Achromatopsia 3 [RCV000313538]\|Achromatopsia [RCV001828365]\|Severe early-childhood-onset retinal dystrophy [RCV000394090]\|not provided [RCV001220465]	uncertain significance	8	86667038	86667038	Human	6	alternate_id
11607583	CV310016	single nucleotide variant	NM_019098.5(CNGB3):c.738C>T (p.Thr246=)	Achromatopsia 3 [RCV000345096]\|Severe early-childhood-onset retinal dystrophy [RCV000390143]\|not provided [RCV001489377]	likely benign\|uncertain significance	8	86667039	86667039	Human	3	alternate_id
11599838	CV315302	single nucleotide variant	NM_019098.5(CNGB3):c.*1459C>T	Achromatopsia 3 [RCV000268759]\|Severe early-childhood-onset retinal dystrophy [RCV000363365]	uncertain significance	8	86574345	86574345	Human	3	alternate_id
11645382	CV315315	single nucleotide variant	NM_019098.5(CNGB3):c.*1368T>C	Achromatopsia 3 [RCV000324660]\|Severe early-childhood-onset retinal dystrophy [RCV000264854]	uncertain significance	8	86574436	86574436	Human	3	alternate_id
11658743	CV315316	single nucleotide variant	NM_019098.5(CNGB3):c.*798A>C	Achromatopsia 3 [RCV000399193]\|Severe early-childhood-onset retinal dystrophy [RCV000351306]\|not provided [RCV004696091]	uncertain significance	8	86575006	86575006	Human	3	alternate_id
11604194	CV315319	single nucleotide variant	NM_019098.5(CNGB3):c.*778T>C	Achromatopsia 3 [RCV000307150]\|Severe early-childhood-onset retinal dystrophy [RCV000366427]	benign\|likely benign	8	86575026	86575026	Human	3	alternate_id
11602782	CV315320	single nucleotide variant	NM_019098.5(CNGB3):c.*379T>G	Achromatopsia 3 [RCV000374155]\|Severe early-childhood-onset retinal dystrophy [RCV000293703]	uncertain significance	8	86575425	86575425	Human	3	alternate_id
11607902	CV315321	single nucleotide variant	NM_019098.5(CNGB3):c.*293T>C	Achromatopsia 3 [RCV000389094]\|Severe early-childhood-onset retinal dystrophy [RCV000348561]	uncertain significance	8	86575511	86575511	Human	3	alternate_id
11600811	CV315322	single nucleotide variant	NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)	Achromatopsia 3 [RCV000277134]\|Severe early-childhood-onset retinal dystrophy [RCV000332145]\|not provided [RCV001239882]	likely benign\|uncertain significance	8	86575986	86575986	Human	3	alternate_id
11601847	CV315324	single nucleotide variant	NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val)	Achromatopsia 3 [RCV000394996]\|Severe early-childhood-onset retinal dystrophy [RCV000286042]	uncertain significance	8	86604160	86604160	Human	3	alternate_id
11599704	CV315330	single nucleotide variant	NM_019098.5(CNGB3):c.624C>T (p.Asn208=)	Achromatopsia 3 [RCV000267952]\|Severe early-childhood-onset retinal dystrophy [RCV000361581]\|not provided [RCV000927857]	likely benign\|uncertain significance	8	86668038	86668038	Human	3	alternate_id
11606245	CV315332	single nucleotide variant	NM_019098.4(CNGB3):c.-36T>G	Achromatopsia 3 [RCV000376943]\|Severe early-childhood-onset retinal dystrophy [RCV000329394]\|not provided [RCV001653741]	benign\|likely benign	8	86743663	86743663	Human	3	alternate_id
11651117	CV315403	single nucleotide variant	NM_019098.4(CNGB3):c.*1701C>T	Achromatopsia 3 [RCV000297130]\|Severe early-childhood-onset retinal dystrophy [RCV000398362]	uncertain significance	8	86574103	86574103	Human	3	alternate_id
11604744	CV315407	single nucleotide variant	NM_019098.4(CNGB3):c.*1638G>A	Achromatopsia 3 [RCV000312215]\|Severe early-childhood-onset retinal dystrophy [RCV000366928]\|not provided [RCV004712637]	benign\|likely benign	8	86574166	86574166	Human	3	alternate_id
11601215	CV315408	single nucleotide variant	NM_019098.5(CNGB3):c.*1303G>A	Achromatopsia 3 [RCV000280351]\|Severe early-childhood-onset retinal dystrophy [RCV000379480]\|not provided [RCV004712638]	benign\|likely benign	8	86574501	86574501	Human	3	alternate_id
11648283	CV315410	single nucleotide variant	NM_019098.5(CNGB3):c.*1093C>T	Achromatopsia 3 [RCV000350006]\|Severe early-childhood-onset retinal dystrophy [RCV000281044]	uncertain significance	8	86574711	86574711	Human	3	alternate_id
11600100	CV315413	single nucleotide variant	NM_019098.5(CNGB3):c.*735A>G	Achromatopsia 3 [RCV000271226]\|Severe early-childhood-onset retinal dystrophy [RCV000302975]\|not provided [RCV004712639]	benign\|likely benign	8	86575069	86575069	Human	3	alternate_id
11605693	CV315416	single nucleotide variant	NM_019098.5(CNGB3):c.*621G>A	Achromatopsia 3 [RCV000372583]\|Severe early-childhood-onset retinal dystrophy [RCV000322621]	likely benign\|uncertain significance	8	86575183	86575183	Human	3	alternate_id
11650755	CV315435	single nucleotide variant	NM_019098.5(CNGB3):c.*206G>A	Achromatopsia 3 [RCV000295002]\|Severe early-childhood-onset retinal dystrophy [RCV000345303]	uncertain significance	8	86575598	86575598	Human	3	alternate_id
11603168	CV315436	single nucleotide variant	NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)	Achromatopsia 3 [RCV000399992]\|Achromatopsia [RCV001833480]\|Retinal dystrophy [RCV004816624]\|Severe early-childhood-onset retinal dystrophy [RCV000297206]\|not provided [RCV000762525]\|not specified [RCV000608300]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	86575814	86575814	Human	8	alternate_id
11606164	CV315445	single nucleotide variant	NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)	Achromatopsia 3 [RCV000328479]\|Achromatopsia [RCV001828363]\|Severe early-childhood-onset retinal dystrophy [RCV000383096]\|not provided [RCV000980205]	pathogenic\|benign\|likely benign\|uncertain significance	8	86579219	86579219	Human	6	alternate_id
11604635	CV315446	single nucleotide variant	NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu)	Achromatopsia 3 [RCV000398277]\|Severe early-childhood-onset retinal dystrophy [RCV000311516]	uncertain significance	8	86626063	86626063	Human	3	alternate_id
11655600	CV315450	single nucleotide variant	NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys)	Achromatopsia 3 [RCV000327065]\|Achromatopsia [RCV001828364]\|Severe early-childhood-onset retinal dystrophy [RCV000363049]\|not provided [RCV001346392]	uncertain significance	8	86643769	86643769	Human	6	alternate_id
11605712	CV315454	single nucleotide variant	NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)	Achromatopsia 3 [RCV000322833]\|Achromatopsia [RCV001272747]\|Retinal dystrophy [RCV004816626]\|Severe early-childhood-onset retinal dystrophy [RCV000372778]\|not provided [RCV000762528]	conflicting interpretations of pathogenicity\|uncertain significance	8	86647878	86647878	Human	8	alternate_id
11599012	CV315455	single nucleotide variant	NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys)	Achromatopsia 3 [RCV000261965]\|Achromatopsia [RCV001272490]\|Severe early-childhood-onset retinal dystrophy [RCV000319376]\|not provided [RCV000947120]	benign\|likely benign	8	86668067	86668067	Human	6	alternate_id
11608090	CV315456	single nucleotide variant	NM_019098.5(CNGB3):c.494-11T>C	Achromatopsia 3 [RCV000389093]\|Severe early-childhood-onset retinal dystrophy [RCV000350722]\|not provided [RCV001499322]	benign\|likely benign	8	86668179	86668179	Human	3	alternate_id
11604500	CV315461	single nucleotide variant	NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala)	Achromatopsia 3 [RCV000397541]\|Severe early-childhood-onset retinal dystrophy [RCV000309960]\|not provided [RCV001090383]	uncertain significance	8	86726538	86726538	Human	3	alternate_id
11604089	CV315462	single nucleotide variant	NM_019098.5(CNGB3):c.212-3T>C	Achromatopsia 3 [RCV000306056]\|Achromatopsia [RCV001272755]\|Severe early-childhood-onset retinal dystrophy [RCV000353793]\|not provided [RCV000897140]	benign\|likely benign\|uncertain significance	8	86726660	86726660	Human	6	alternate_id
11600890	CV315470	single nucleotide variant	NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)	Achromatopsia 3 [RCV000277976]\|Achromatopsia [RCV001272756]\|Severe early-childhood-onset retinal dystrophy [RCV000325972]\|not provided [RCV000900243]	likely benign\|uncertain significance	8	86743585	86743585	Human	6	alternate_id
405711505	CV3225879	single nucleotide variant	NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)	Severe early-childhood-onset retinal dystrophy [RCV003990938]	likely pathogenic	1	94005544	94005544	Human	2	alternate_id
405853390	CV3392721	single nucleotide variant	NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)	Cone-rod dystrophy 3 [RCV005023562]\|Stargardt disease [RCV004526446]	pathogenic	1	94014652	94014652	Human	2	alternate_id
405853402	CV3392733	deletion	NM_000350.3(ABCA4):c.2055del (p.Thr685_Leu686insTer)	Cone-rod dystrophy 3 [RCV005023563]\|Retinitis pigmentosa [RCV004526458]	pathogenic	1	94060642	94060642	Human	3	alternate_id
405867325	CV3394300	single nucleotide variant	NM_000350.3(ABCA4):c.1230A>G (p.Ile410Met)	Severe early-childhood-onset retinal dystrophy [RCV004566417]	pathogenic	1	94079331	94079331	Human	2	alternate_id
405867443	CV3397753	deletion	NM_000350.3(ABCA4):c.4804del (p.Ile1602fs)	Severe early-childhood-onset retinal dystrophy [RCV004566504]	likely pathogenic	1	94021684	94021684	Human	2	alternate_id
405867444	CV3397754	single nucleotide variant	NM_000350.3(ABCA4):c.5335T>C (p.Tyr1779His)	Severe early-childhood-onset retinal dystrophy [RCV004566505]	likely pathogenic	1	94014668	94014668	Human	2	alternate_id
405867445	CV3397755	single nucleotide variant	NM_000350.3(ABCA4):c.6394G>T (p.Glu2132Ter)	Severe early-childhood-onset retinal dystrophy [RCV004566506]	likely pathogenic	1	94000921	94000921	Human	2	alternate_id
405867446	CV3397756	single nucleotide variant	NM_000350.3(ABCA4):c.6282+3A>T	Severe early-childhood-onset retinal dystrophy [RCV004566507]	uncertain significance	1	94001855	94001855	Human	2	alternate_id
405867626	CV3397944	single nucleotide variant	NM_000350.3(ABCA4):c.6220G>T (p.Gly2074Cys)	Severe early-childhood-onset retinal dystrophy [RCV004574944]	pathogenic	1	94001920	94001920	Human	2	alternate_id
596924323	CV3407844	single nucleotide variant	NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)	Retinal dystrophy [RCV004814304]\|Retinitis pigmentosa [RCV005059570]\|Severe early-childhood-onset retinal dystrophy [RCV004776461]	pathogenic\|likely pathogenic	1	94080560	94080560	Human	6	alternate_id
407427610	CV3410760	single nucleotide variant	NM_000350.3(ABCA4):c.2654-2A>C	Cone-rod dystrophy 3 [RCV004586407]	likely pathogenic	1	94048959	94048959	Human	1	alternate_id
408393926	CV3526284	single nucleotide variant	NM_000350.3(ABCA4):c.6083C>G (p.Thr2028Arg)	Severe early-childhood-onset retinal dystrophy [RCV004771716]	uncertain significance	1	94005505	94005505	Human	2	alternate_id
596922073	CV3529602	single nucleotide variant	NM_000350.3(ABCA4):c.4539+1G>C	Severe early-childhood-onset retinal dystrophy [RCV004776478]	likely pathogenic	1	94029444	94029444	Human	2	alternate_id
596922082	CV3529611	single nucleotide variant	NM_000350.3(ABCA4):c.1597C>T (p.Gln533Ter)	Severe early-childhood-onset retinal dystrophy [RCV004776487]	likely pathogenic	1	94063275	94063275	Human	2	alternate_id
596927709	CV3541090	duplication	NM_000350.3(ABCA4):c.2063dup (p.Asn688fs)	Cone-rod dystrophy 3 [RCV004796960]	pathogenic	1	94060633	94060634	Human	1	alternate_id
596927457	CV3541091	single nucleotide variant	NM_000350.3(ABCA4):c.5461-6T>G	Cone-rod dystrophy 3 [RCV004796961]	likely pathogenic	1	94011391	94011391	Human	1	alternate_id
596928409	CV3541483	single nucleotide variant	NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)	Cone-rod dystrophy 3 [RCV004797355]	likely pathogenic	1	94062679	94062679	Human	1	alternate_id
596941165	CV3542398	single nucleotide variant	NM_000350.3(ABCA4):c.1838A>G (p.Asp613Gly)	Severe early-childhood-onset retinal dystrophy [RCV004797668]	uncertain significance	1	94062676	94062676	Human	2	alternate_id
596946239	CV3550501	single nucleotide variant	NM_000350.3(ABCA4):c.4693A>T (p.Lys1565Ter)	Severe early-childhood-onset retinal dystrophy [RCV004819042]	pathogenic	1	94021926	94021926	Human	2	alternate_id
597648033	CV3551576	single nucleotide variant	NM_000350.3(ABCA4):c.1019A>G (p.Tyr340Cys)	Severe early-childhood-onset retinal dystrophy [RCV004819953]	likely pathogenic	1	94080558	94080558	Human	2	alternate_id
12742651	CV359265	single nucleotide variant	NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)	Cone-rod dystrophy 3 [RCV005027469]\|Retinal dystrophy [RCV004816637]\|Retinitis pigmentosa 19 [RCV001353030]\|not provided [RCV000414150]	pathogenic\|likely pathogenic	1	94060709	94060709	Human	4	alternate_id
12742355	CV359278	duplication	NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	ABCA4-related disorder [RCV004732866]\|Bietti crystalline corneoretinal dystrophy [RCV000787775]\|Retinal dystrophy [RCV001073604]\|Severe early-childhood-onset retinal dystrophy [RCV000504931]\|not provided [RCV000413475]	pathogenic\|likely pathogenic	1	94042877	94042878	Human	5	alternate_id
12742397	CV359518	duplication	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	Autosomal recessive retinitis pigmentosa [RCV001257789]\|Cone-rod dystrophy 12 [RCV000761312]\|Cone-rod dystrophy 2 [RCV001255712]\|PROM1-related disorder [RCV000779436]\|Retinal dystrophy [RCV000505153]\|Retinitis pigmentosa 41 [RCV000987422]\|Retinitis pigmentosa [RCV001003127]\|Star ... (more) 700;'>Stargardt disease [RCV002467446]\|not provided [RCV000413568]	pathogenic\|likely pathogenic	4	16006637	16006638	Human	11	alternate_id
12743162	CV361623	single nucleotide variant	NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)	Cone-rod dystrophy 3 [RCV000764208]\|not provided [RCV000416105]	conflicting interpretations of pathogenicity\|uncertain significance	1	94108649	94108649	Human	1	alternate_id
12849931	CV365228	single nucleotide variant	NM_000350.3(ABCA4):c.5898+1G>A	Retinal dystrophy [RCV001075185]\|Retinitis pigmentosa [RCV001723980]\|Stargardt disease [RCV005055959]\|not provided [RCV000438611]	pathogenic	1	94008234	94008234	Human	5	alternate_id
12849617	CV365431	single nucleotide variant	NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)	Cone-rod dystrophy 3 [RCV005027484]\|Retinal dystrophy [RCV001074499]\|Retinitis pigmentosa [RCV004586705]\|not provided [RCV000432926]	pathogenic\|likely pathogenic	1	94001071	94001071	Human	5	alternate_id
12850212	CV365433	single nucleotide variant	NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)	ABCA4-related disorder [RCV000779004]\|Cone-rod dystrophy 3 [RCV005027483]\|Retinal dystrophy [RCV001075739]\|Severe early-childhood-onset retinal dystrophy [RCV000505057]\|not provided [RCV000443223]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94029621	94029621	Human	8	alternate_id
12848963	CV365522	single nucleotide variant	NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)	Age related macular degeneration 2 [RCV003224874]\|Cone-rod dystrophy 3 [RCV002480281]\|Retinal dystrophy [RCV004816654]\|Severe early-childhood-onset retinal dystrophy [RCV002289547]\|not provided [RCV000421632]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94011274	94011274	Human	8	alternate_id
12849391	CV365528	single nucleotide variant	NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	ABCA4-related disorder [RCV000779006]\|Cone-rod dystrophy 3 [RCV002272229]\|Cone-rod dystrophy 3 [RCV004819223]\|Cone-rod dystrophy 3 [RCV005355712]\|Retinal dystrophy [RCV001074731]\|Retinitis pigmentosa 19 [RCV002250625]\|Severe early-childhood-onset retinal dystrophy [RCV005235274]\|not provided [RCV000 ... (more) 429156]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94077713	94077713	Human	8	alternate_id
597672882	CV3703344	deletion	NM_000350.3(ABCA4):c.3510del (p.Gly1172fs)	Severe early-childhood-onset retinal dystrophy [RCV004823547]	pathogenic	1	94041221	94041221	Human	2	alternate_id
617153909	CV3703412	single nucleotide variant	NM_006915.3(RP2):c.44C>G (p.Ser15Trp)	Stargardt disease [RCV005419807]	uncertain significance	X	46837144	46837144	Human	1	alternate_id
617153481	CV3703441	single nucleotide variant	NM_000350.3(ABCA4):c.5329A>G (p.Met1777Val)	Cone dystrophy and rod monochromatism [RCV005419838]\|Stargardt disease [RCV005419837]	likely pathogenic\|uncertain significance	1	94014674	94014674	Human	2	alternate_id
597681165	CV3724008	single nucleotide variant	NM_000350.3(ABCA4):c.3169G>T (p.Glu1057Ter)	Cone-rod dystrophy 3 [RCV005031088]	likely pathogenic	1	94043357	94043357	Human	1	alternate_id
597682771	CV3724230	single nucleotide variant	NM_000350.3(ABCA4):c.302+2T>G	Cone-rod dystrophy 3 [RCV005031254]	likely pathogenic	1	94111436	94111436	Human	1	alternate_id
597680124	CV3727285	single nucleotide variant	NM_000350.3(ABCA4):c.6209C>G (p.Thr2070Arg)	Cone-rod dystrophy 3 [RCV005030957]\|not provided [RCV005112815]	pathogenic\|likely pathogenic	1	94001931	94001931	Human	1	alternate_id
597680431	CV3727297	single nucleotide variant	NM_000350.3(ABCA4):c.6006-1G>A	Cone-rod dystrophy 3 [RCV005030970]	likely pathogenic	1	94005583	94005583	Human	1	alternate_id
597711642	CV3727364	single nucleotide variant	NM_000350.3(ABCA4):c.4871G>A (p.Trp1624Ter)	Cone-rod dystrophy 3 [RCV005034891]	likely pathogenic	1	94021387	94021387	Human	1	alternate_id
597832833	CV3762143	single nucleotide variant	NM_000350.3(ABCA4):c.1918C>A (p.Pro640Thr)	Severe early-childhood-onset retinal dystrophy [RCV005087561]	likely pathogenic	1	94062596	94062596	Human	2	alternate_id
597972637	CV3790433	duplication	NM_000350.3(ABCA4):c.3326dup (p.Gly1110fs)	Severe early-childhood-onset retinal dystrophy [RCV005254993]\|not provided [RCV005142856]	pathogenic\|likely pathogenic	1	94042762	94042763	Human	2	alternate_id
598124431	CV3883526	single nucleotide variant	NM_000350.3(ABCA4):c.1712T>G (p.Ile571Ser)	Severe early-childhood-onset retinal dystrophy [RCV005235887]	likely pathogenic	1	94063160	94063160	Human	2	alternate_id
598124432	CV3883527	single nucleotide variant	NM_000350.3(ABCA4):c.3224C>A (p.Ala1075Asp)	Severe early-childhood-onset retinal dystrophy [RCV005235888]	likely pathogenic	1	94042865	94042865	Human	2	alternate_id
598124436	CV3883529	single nucleotide variant	NM_000350.3(ABCA4):c.4127A>C (p.Gln1376Pro)	Severe early-childhood-onset retinal dystrophy [RCV005235890]	likely pathogenic	1	94031779	94031779	Human	2	alternate_id
598124437	CV3883530	deletion	NM_000350.3(ABCA4):c.4149del (p.Phe1383fs)	Severe early-childhood-onset retinal dystrophy [RCV005235891]	likely pathogenic	1	94031100	94031100	Human	2	alternate_id
598218810	CV3891713	single nucleotide variant	NM_000350.3(ABCA4):c.859-25A>G	Severe early-childhood-onset retinal dystrophy [RCV005252556]	pathogenic	1	94080743	94080743	Human	2	alternate_id
598220518	CV3891812	single nucleotide variant	NM_000350.3(ABCA4):c.67-2A>T	Cone-rod dystrophy 3 [RCV005253150]	pathogenic	1	94113068	94113068	Human	1	alternate_id
8568196	CV39173	single nucleotide variant	NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg)	Severe early-childhood-onset retinal dystrophy [RCV000023140]	pathogenic	1	94055237	94055237	Human	2	alternate_id
8568197	CV39174	single nucleotide variant	NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	Retinal dystrophy [RCV001073572]\|Retinitis pigmentosa [RCV000504768]\|Severe early-childhood-onset retinal dystrophy [RCV000023141]\|not provided [RCV000085574]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94041367	94041367	Human	6	alternate_id
616932970	CV4009541	deletion	NM_000350.3(ABCA4):c.3081del (p.Phe1026_Tyr1027insTer)	Severe early-childhood-onset retinal dystrophy [RCV005402713]	pathogenic	1	94043445	94043445	Human	2	alternate_id
12895478	CV405251	single nucleotide variant	NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)	Age related macular degeneration 2 [RCV002248696]\|Retinal dystrophy [RCV000504970]\|Severe early-childhood-onset retinal dystrophy [RCV002250633]\|not provided [RCV000486602]	pathogenic\|likely pathogenic	1	94007707	94007707	Human	6	alternate_id
12893799	CV405254	single nucleotide variant	NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)	Retinal dystrophy [RCV001073593]\|Retinitis pigmentosa [RCV005239062]\|Stargardt disease [RCV000787780]\|not provided [RCV000480271]	pathogenic\|likely pathogenic	1	94030454	94030454	Human	5	alternate_id
12893744	CV406402	single nucleotide variant	NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)	Cone-rod dystrophy [RCV005418155]\|Inborn genetic diseases [RCV002313243]\|Macular dystrophy with central cone involvement [RCV001542748]\|Neuronal ceroid lipofuscinosis 7 [RCV000805545]\|Neuronal ceroid lipofuscinosis 7 [RCV005027540]\|Neuronal ceroid lipofuscinosis [RCV001805096]\|Retinal dystrophy [RCV ... (more) 000505174]\|Retinitis pigmentosa [RCV000504782]\|Severe early-childhood-onset retinal dystrophy [RCV000505013]\|not provided [RCV000480079]	pathogenic\|likely pathogenic\|uncertain significance	4	127920826	127920826	Human	12	alternate_id
12893473	CV406868	single nucleotide variant	NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)	PRPH2-related disorder [RCV002525801]\|Stargardt disease [RCV001250338]\|not provided [RCV000479139]	pathogenic\|likely pathogenic	6	42704445	42704445	Human	2	alternate_id
12895463	CV406870	single nucleotide variant	NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)	PRPH2-related disorder [RCV001302351]\|Stargardt disease [RCV001250321]\|not provided [RCV000486555]	likely pathogenic\|uncertain significance	6	42721910	42721910	Human	2	alternate_id
12899665	CV407456	single nucleotide variant	NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)	Achromatopsia 3 [RCV000764781]\|Achromatopsia [RCV001276131]\|CNGB3-related disorder [RCV004535518]\|not provided [RCV000480707]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	86626069	86626069	Human	3	alternate_id
12905541	CV413234	single nucleotide variant	NM_000350.3(ABCA4):c.6816+2T>A	Retinal dystrophy [RCV004816698]\|Stargardt disease [RCV001199629]\|not provided [RCV000487635]	pathogenic\|likely pathogenic	1	93996107	93996107	Human	3	alternate_id
12905922	CV413236	single nucleotide variant	NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)	ABCA4-related disorder [RCV001099950]\|Isolated macular dystrophy [RCV001199608]\|Retinitis pigmentosa [RCV005418162]\|Severe early-childhood-onset retinal dystrophy [RCV005248064]\|not provided [RCV000488184]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94046962	94046962	Human	4	alternate_id
12905572	CV413712	single nucleotide variant	NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)	Isolated macular dystrophy [RCV001199528]\|PRPH2-related disorder [RCV002526003]\|Stargardt disease [RCV001199524]\|not provided [RCV000487688]	pathogenic\|likely pathogenic\|uncertain significance	6	42704540	42704540	Human	2	alternate_id
12906790	CV414812	single nucleotide variant	NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)	Cone-rod dystrophy 3 [RCV005027567]\|Retinitis pigmentosa 19 [RCV001353028]\|Severe early-childhood-onset retinal dystrophy [RCV005252923]\|not provided [RCV000489654]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94021385	94021385	Human	6	alternate_id
13211709	CV425388	single nucleotide variant	NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)	Stargardt disease [RCV003324528]\|not provided [RCV000497807]	pathogenic\|likely pathogenic	1	94014676	94014676	Human	1	alternate_id
13212902	CV426740	microsatellite	NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs)	Severe early-childhood-onset retinal dystrophy [RCV000498003]	pathogenic\|likely pathogenic	1	94063250	94063251	Human		alternate_id
13216999	CV428632	single nucleotide variant	NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)	Spinocerebellar ataxia type 34 [RCV000504460]\|Spinocerebellar ataxia type 34 [RCV005034041]\|not provided [RCV001662494]	pathogenic\|likely pathogenic	6	79921654	79921654	Human	1	alternate_id
13434933	CV431613	single nucleotide variant	NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)	Retinal dystrophy [RCV000504619]\|Stargardt disease [RCV000787518]\|not provided [RCV003558424]	pathogenic\|likely pathogenic	1	94005490	94005490	Human	3	alternate_id
13435129	CV431614	single nucleotide variant	NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro)	Retinal dystrophy [RCV004817733]\|Severe early-childhood-onset retinal dystrophy [RCV000504985]	likely pathogenic	1	94005490	94005490	Human	4	alternate_id
13435203	CV431615	single nucleotide variant	NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser)	Severe early-childhood-onset retinal dystrophy [RCV000505135]	likely pathogenic	1	94011330	94011330	Human	2	alternate_id
13435108	CV431616	single nucleotide variant	NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=)	Severe early-childhood-onset retinal dystrophy [RCV000504940]\|not provided [RCV001037052]	likely pathogenic\|uncertain significance	1	94011383	94011383	Human	2	alternate_id
13434950	CV431618	single nucleotide variant	NM_000350.3(ABCA4):c.5196+1137G>A	Cone-rod dystrophy [RCV003324531]\|Macular dystrophy [RCV000787507]\|Retinal dystrophy [RCV000504651]\|Retinitis pigmentosa 19 [RCV001542560]\|Severe early-childhood-onset retinal dystrophy [RCV000504847]\|Stargardt disease [RCV000787508]\|not provided [RCV001388591]	pathogenic\|likely pathogenic	1	94018445	94018445	Human	10	alternate_id
13435054	CV431619	single nucleotide variant	NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg)	Severe early-childhood-onset retinal dystrophy [RCV000504832]	likely pathogenic	1	94019690	94019690	Human	2	alternate_id
13435034	CV431621	single nucleotide variant	NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)	Severe early-childhood-onset retinal dystrophy [RCV000504799]\|not provided [RCV002524408]	likely pathogenic	1	94021892	94021892	Human	2	alternate_id
13434956	CV431623	single nucleotide variant	NM_000350.3(ABCA4):c.4129-1G>A	Severe early-childhood-onset retinal dystrophy [RCV000504663]	likely pathogenic	1	94031121	94031121	Human	2	alternate_id
13435194	CV431625	single nucleotide variant	NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)	Congenital stationary night blindness [RCV000505122]\|Severe early-childhood-onset retinal dystrophy [RCV005407661]	pathogenic	1	94042830	94042830	Human	4	alternate_id
13435098	CV431626	single nucleotide variant	NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter)	Retinal dystrophy [RCV004794397]\|Severe early-childhood-onset retinal dystrophy [RCV000504918]\|not provided [RCV003558422]	pathogenic	1	94043445	94043445	Human	4	alternate_id
13435078	CV431627	single nucleotide variant	NM_000350.3(ABCA4):c.2918+1060G>T	Severe early-childhood-onset retinal dystrophy [RCV000504881]	likely pathogenic\|likely benign	1	94045859	94045859	Human	2	alternate_id
13435085	CV431628	single nucleotide variant	NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)	Cone-rod dystrophy 3 [RCV005034047]\|Cone-rod dystrophy 3 [RCV005356025]\|Retinal dystrophy [RCV000504891]\|not provided [RCV001047033]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94047024	94047024	Human	3	alternate_id
13435206	CV431634	deletion	NM_000350.3(ABCA4):c.885del (p.Leu296fs)	Progressive cone dystrophy (without rod involvement) [RCV000787781]\|Retinal dystrophy [RCV000505141]\|Retinitis pigmentosa 19 [RCV004546511]\|Severe early-childhood-onset retinal dystrophy [RCV005235366]\|Stargardt disease [RCV000787527]\|not provided [RCV001857213]	pathogenic\|likely pathogenic	1	94080692	94080692	Human	5	alternate_id
13435050	CV431694	single nucleotide variant	NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	Choroidal dystrophy, central areolar 2 [RCV004787813]\|Macular dystrophy [RCV000504827]\|PRPH2-related disorder [RCV001051123]\|Patterned macular dystrophy 1 [RCV000787665]\|Pigmentary retinal dystrophy [RCV002248741]\|Retinal dystrophy [RCV001074827]\|Stargardt disea ... (more) se [RCV001250285]\|not provided [RCV001530240]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	42704570	42704570	Human	11	alternate_id
13434966	CV431695	deletion	NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)	PRPH2-related disorder [RCV001857204]\|Retinal dystrophy [RCV000504674]\|Stargardt disease [RCV001250294]\|not provided [RCV001530215]	pathogenic	6	42722069	42722076	Human	4	alternate_id
13434972	CV431851	deletion	Single allele	Severe early-childhood-onset retinal dystrophy [RCV000504681]	likely pathogenic	1	93937187	94040126	Human	2	alternate_id
13509055	CV481602	single nucleotide variant	NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)	Cone-rod dystrophy 3 [RCV005027679]\|Retinal dystrophy [RCV001075053]\|Severe early-childhood-onset retinal dystrophy [RCV001376340]\|not provided [RCV000578767]	pathogenic	1	94108700	94108700	Human	8	alternate_id
13518855	CV488481	single nucleotide variant	NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)	ABCA4-related disorder [RCV001101855]\|ABCA4-related retinopathy [RCV005367445]\|Age related macular degeneration 2 [RCV001195780]\|Cone-rod dystrophy 3 [RCV002497243]\|Cone-rod dystrophy [RCV002267738]\|Retinal dystrophy [RCV004817792]\|Retinitis pigmentosa 19 [RCV002289889]\|Star ... (more) '>Stargardt disease [RCV004594081]\|not provided [RCV000597651]\|not specified [RCV003235303]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94037350	94037350	Human	11	alternate_id
13522525	CV489360	single nucleotide variant	NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)	Cone-rod dystrophy 3 [RCV002483586]\|Retinal dystrophy [RCV001073247]\|Retinitis pigmentosa 19 [RCV005252977]\|not provided [RCV000591844]	uncertain significance	1	94021904	94021904	Human	4	alternate_id
13515980	CV489425	single nucleotide variant	NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)	Cone-rod dystrophy 3 [RCV005027700]\|not provided [RCV000594953]	pathogenic	1	94056638	94056638	Human	1	alternate_id
13515576	CV491183	single nucleotide variant	NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)	Cone-rod dystrophy 3 [RCV005357785]\|not provided [RCV000594447]	conflicting interpretations of pathogenicity\|uncertain significance	1	94030438	94030438	Human	1	alternate_id
13533887	CV498604	single nucleotide variant	NM_000350.3(ABCA4):c.5196+1136C>A	Retinal dystrophy [RCV001075845]\|Severe early-childhood-onset retinal dystrophy [RCV000986351]\|not specified [RCV000601786]	likely benign\|uncertain significance	1	94018446	94018446	Human	4	alternate_id
13540826	CV498627	single nucleotide variant	NM_000350.3(ABCA4):c.4539+2064C>T	Retinal dystrophy [RCV004817819]\|Severe early-childhood-onset retinal dystrophy [RCV001352957]\|not provided [RCV000994041]	pathogenic\|likely pathogenic\|likely benign\|uncertain significance	1	94027381	94027381	Human	4	alternate_id
13539472	CV498850	single nucleotide variant	NM_000350.3(ABCA4):c.5196+1159G>A	Retinal dystrophy [RCV004817820]\|Severe early-childhood-onset retinal dystrophy [RCV000986350]\|not provided [RCV001811117]\|not specified [RCV000613329]	likely pathogenic\|benign\|likely benign\|no classifications from unflagged records	1	94018423	94018423	Human	4	alternate_id
13531092	CV511211	single nucleotide variant	NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)	Inborn genetic diseases [RCV000623037]\|Leber congenital amaurosis 8 [RCV003451477]\|Retinitis pigmentosa 12 [RCV001040018]\|Retinitis pigmentosa 12 [RCV003451476]\|Stargardt disease [RCV000678549]	pathogenic	1	197435035	197435035	Human	4	alternate_id
13534348	CV513016	single nucleotide variant	NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)	Cone-rod dystrophy 3 [RCV000625606]\|Retinal dystrophy [RCV004798849]\|Severe early-childhood-onset retinal dystrophy [RCV002289913]\|not provided [RCV001860463]	pathogenic\|likely pathogenic	1	94025021	94025021	Human	5	alternate_id
13674095	CV536020	deletion	NM_000350.3(ABCA4):c.287del (p.Asn96fs)	Severe early-childhood-onset retinal dystrophy [RCV000656498]\|not provided [RCV001861674]	pathogenic	1	94111453	94111453	Human	2	alternate_id
13705953	CV537089	single nucleotide variant	NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)	Cone-rod dystrophy 3 [RCV002507145]\|not provided [RCV000658513]\|not specified [RCV002249386]	conflicting interpretations of pathogenicity\|uncertain significance	1	94029567	94029567	Human	1	alternate_id
13785575	CV543956	single nucleotide variant	NM_001142800.2(EYS):c.1459+5C>T	Retinitis pigmentosa 25 [RCV000667100]\|Retinitis pigmentosa [RCV001162942]\|Stargardt disease [RCV000787832]\|not provided [RCV000762420]\|not specified [RCV004768526]	likely pathogenic\|uncertain significance	6	65353453	65353453	Human	4	alternate_id
13795158	CV551504	single nucleotide variant	NM_201253.3(CRB1):c.849-26A>G	Stargardt disease [RCV000678551]	uncertain significance	1	197347314	197347314	Human	1	alternate_id
13795471	CV551522	single nucleotide variant	NM_000350.3(ABCA4):c.4539+2001G>A	Retinal dystrophy [RCV001074340]\|Severe early-childhood-onset retinal dystrophy [RCV000678510]\|not provided [RCV001701152]	pathogenic\|likely pathogenic	1	94027444	94027444	Human	4	alternate_id
13827379	CV581848	single nucleotide variant	NM_000350.3(ABCA4):c.2587+2T>C	Cone-rod dystrophy 3 [RCV005027888]\|Severe early-childhood-onset retinal dystrophy [RCV000722087]\|not provided [RCV001868917]	pathogenic\|likely pathogenic	1	94055109	94055109	Human	6	alternate_id
13832708	CV583381	single nucleotide variant	NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)	Achromatopsia 3 [RCV001164343]\|CNGB3-related retinopathy [RCV005357967]\|Retinal dystrophy [RCV004817954]\|Severe early-childhood-onset retinal dystrophy [RCV001164344]\|not provided [RCV000727616]	conflicting interpretations of pathogenicity\|uncertain significance	8	86579136	86579136	Human	5	alternate_id
14395726	CV611528	single nucleotide variant	NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)	Cone-rod dystrophy 3 [RCV005029408]\|Retinal dystrophy [RCV004798864]\|maculopathy [RCV001002843]\|not provided [RCV000760305]	pathogenic	1	94063158	94063158	Human	8	alternate_id
14396669	CV612550	single nucleotide variant	NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)	Stargardt disease [RCV001199616]\|not provided [RCV000761666]	pathogenic\|uncertain significance	1	94024990	94024990	Human	1	alternate_id
14396670	CV612551	single nucleotide variant	NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu)	Retinitis pigmentosa [RCV004800573]\|Severe early-childhood-onset retinal dystrophy [RCV004564474]\|not provided [RCV000761667]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94031836	94031836	Human	4	alternate_id
14397320	CV612831	microsatellite	NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])	Achromatopsia 3 [RCV001810484]\|Achromatopsia [RCV001275881]\|Severe early-childhood-onset retinal dystrophy [RCV001029857]\|not provided [RCV000762527]\|not specified [RCV003987697]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	8	86576035	86576055	Human		alternate_id
14693433	CV620017	single nucleotide variant	NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	ABCA4-related disorder [RCV000779001]\|Cone-rod dystrophy [RCV001199620]\|Retinal dystrophy [RCV001074860]\|Retinitis pigmentosa 1 [RCV003322616]\|Retinitis pigmentosa 19 [RCV004760780]\|Severe early-childhood-onset retinal dystrophy [RCV002267624]\|not provided [RCV000994038]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94019665	94019665	Human	9	alternate_id
14692981	CV620019	single nucleotide variant	NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)	Retinal dystrophy [RCV001073511]\|Severe early-childhood-onset retinal dystrophy [RCV001353035]\|not provided [RCV001683659]	pathogenic\|likely pathogenic\|uncertain significance	1	94055297	94055297	Human	4	alternate_id
14695856	CV622315	single nucleotide variant	NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)	ABCA4-related disorder [RCV000785053]\|Cone dystrophy [RCV005418344]\|Severe early-childhood-onset retinal dystrophy [RCV001353013]\|not provided [RCV001204682]	pathogenic\|likely pathogenic	1	94019606	94019606	Human	4	alternate_id
14697884	CV623247	single nucleotide variant	NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	Cone-rod dystrophy 3 [RCV000786893]\|Cone-rod dystrophy 3 [RCV005029445]\|Retinal dystrophy [RCV004817995]\|Stargardt disease [RCV001002840]\|not provided [RCV003768465]	likely pathogenic	1	94060739	94060739	Human	4	alternate_id
14698441	CV623813	single nucleotide variant	NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)	Retinal dystrophy [RCV004817999]\|Stargardt disease [RCV000787524]\|not provided [RCV003558594]	pathogenic\|likely pathogenic	1	94000837	94000837	Human	3	alternate_id
14698633	CV623814	single nucleotide variant	NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)	Retinal dystrophy [RCV004817998]\|Stargardt disease [RCV000787523]\|not provided [RCV005411562]	likely pathogenic	1	94000861	94000861	Human	3	alternate_id
14698632	CV623815	single nucleotide variant	NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)	Retinal dystrophy [RCV001074913]\|Stargardt disease [RCV000787520]\|not provided [RCV001380601]	pathogenic\|uncertain significance	1	94001069	94001069	Human	3	alternate_id
14698439	CV623817	single nucleotide variant	NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)	Macular dystrophy [RCV000787503]\|Stargardt disease [RCV000787767]	uncertain significance	1	94021646	94021646	Human	3	alternate_id
14698631	CV623818	single nucleotide variant	NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn)	Stargardt disease [RCV000787501]	uncertain significance	1	94021940	94021940	Human	1	alternate_id
14698437	CV623819	single nucleotide variant	NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)	Stargardt disease [RCV000787499]	likely pathogenic	1	94031006	94031006	Human	1	alternate_id
14698436	CV623820	duplication	NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs)	Stargardt disease [RCV000787497]	likely pathogenic	1	94037189	94037190	Human	1	alternate_id
14698630	CV623821	single nucleotide variant	NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)	Stargardt disease [RCV000787496]\|not provided [RCV001873209]	pathogenic\|likely pathogenic	1	94041351	94041351	Human	1	alternate_id
14698341	CV623822	duplication	NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)	Stargardt disease [RCV000787489]	likely pathogenic	1	94048930	94048931	Human	1	alternate_id
14698340	CV623824	deletion	NM_000350.3(ABCA4):c.2408del (p.Gly803fs)	Stargardt disease [RCV000787484]\|not provided [RCV003558593]	pathogenic	1	94055290	94055290	Human	1	alternate_id
14698662	CV623851	single nucleotide variant	NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)	Retinal dystrophy [RCV000787662]\|Stargardt disease [RCV001250328]\|not provided [RCV001530345]	pathogenic\|likely pathogenic	6	42721857	42721857	Human	3	alternate_id
14698444	CV623876	single nucleotide variant	NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter)	Stargardt disease [RCV000787536]	likely pathogenic	11	61959973	61959973	Human	1	alternate_id
14698347	CV623896	duplication	NM_000554.6(CRX):c.381dup (p.Ser128fs)	Stargardt disease [RCV000787586]	likely pathogenic	19	47839445	47839446	Human	1	alternate_id
14698639	CV623898	single nucleotide variant	NM_000554.6(CRX):c.827G>A (p.Trp276Ter)	Stargardt disease [RCV000787588]	likely pathogenic	19	47839894	47839894	Human	1	alternate_id
14698342	CV623922	single nucleotide variant	NM_000350.3(ABCA4):c.4539+2066C>G	Stargardt disease [RCV000787500]	uncertain significance	1	94027379	94027379	Human	1	alternate_id
14698586	CV623948	deletion	NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs)	Stargardt disease [RCV000787835]	likely pathogenic	1	212895015	212895019	Human	1	alternate_id
14698679	CV623954	deletion	NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)	Age related macular degeneration 2 [RCV001195988]\|Retinal dystrophy [RCV004818015]\|Stargardt disease [RCV000787779]	pathogenic\|likely pathogenic	1	94031027	94031027	Human	4	alternate_id
14698593	CV623955	single nucleotide variant	NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)	Retinitis pigmentosa [RCV005240568]\|Stargardt disease [RCV000787903]\|not provided [RCV001235117]	pathogenic\|uncertain significance	1	94031837	94031837	Human	3	alternate_id
14698516	CV623956	single nucleotide variant	NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)	Retinal dystrophy [RCV001074143]\|Stargardt disease [RCV000787765]	likely pathogenic	1	94046942	94046942	Human	3	alternate_id
14698390	CV623984	duplication	NM_133497.4(KCNV2):c.357dup (p.Lys120fs)	Cone dystrophy with supernormal rod response [RCV000030810]\|Progressive cone dystrophy (without rod involvement) [RCV000787846]\|Stargardt disease [RCV000787847]	pathogenic	9	2718092	2718093	Human	3	alternate_id
14698521	CV623991	single nucleotide variant	NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)	Stargardt disease [RCV000787797]\|not provided [RCV001338345]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	61951901	61951901	Human	1	alternate_id
14698383	CV624029	deletion	NM_000350.2:c.(6816+1_6817-1)_(*1_?)del	Stargardt disease [RCV000787759]	pathogenic				Human	1	alternate_id
14698548	CV624034	single nucleotide variant	NM_014014.5(SNRNP200):c.210-5A>G	Stargardt disease [RCV000787886]	uncertain significance	2	96303335	96303335	Human	1	alternate_id
14736193	CV658103	single nucleotide variant	NM_000350.3(ABCA4):c.4128+156C>T	Age related macular degeneration 2 [RCV001548781]\|Cone-rod dystrophy 3 [RCV001548780]\|Retinitis pigmentosa 19 [RCV001549180]\|Severe early-childhood-onset retinal dystrophy [RCV001549179]\|not provided [RCV000838362]	benign	1	94031622	94031622	Human	6	alternate_id
14746747	CV672067	deletion	NM_000322.5(PRPH2):c.394del (p.Gln132fs)	PRPH2-related disorder [RCV001061370]\|Retinal dystrophy [RCV004818062]\|Retinitis pigmentosa [RCV000844928]\|Stargardt disease [RCV001250304]\|not provided [RCV001530283]	pathogenic\|not provided	6	42721941	42721941	Human	6	alternate_id
14746748	CV672072	single nucleotide variant	NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val)	Inborn genetic diseases [RCV004029248]\|RP1L1-related disorder [RCV004751753]\|Retinal dystrophy [RCV004818063]\|Stargardt disease [RCV000844931]	likely benign\|uncertain significance\|not provided	8	10611171	10611171	Human	6	alternate_id
14978334	CV677405	single nucleotide variant	NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	ABCA4-related disorder [RCV004733063]\|Cone-rod dystrophy 3 [RCV000850519]\|Cone-rod dystrophy 3 [RCV001262439]\|Retinal dystrophy [RCV001074418]\|not provided [RCV001234782]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	1	94001919	94001919	Human	6	alternate_id
15147022	CV691989	single nucleotide variant	NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)	PRPH2-related disorder [RCV000878664]\|Stargardt disease [RCV001250329]\|not provided [RCV001530346]	likely benign\|uncertain significance	6	42721852	42721852	Human	2	alternate_id
15177431	CV711650	single nucleotide variant	NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)	Achromatopsia 3 [RCV001159426]\|Achromatopsia [RCV001272482]\|Severe early-childhood-onset retinal dystrophy [RCV001159425]\|not provided [RCV000973424]	benign\|likely benign	8	86611624	86611624	Human	6	alternate_id
15174269	CV736761	single nucleotide variant	NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)	Achromatopsia 3 [RCV001161028]\|Achromatopsia [RCV001272753]\|CNGB3-related disorder [RCV004733088]\|Severe early-childhood-onset retinal dystrophy [RCV001161029]\|not provided [RCV000905932]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	86726550	86726550	Human	6	alternate_id
15164429	CV751254	single nucleotide variant	NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)	Achromatopsia 3 [RCV001162415]\|Achromatopsia [RCV001272740]\|Severe early-childhood-onset retinal dystrophy [RCV001162416]\|not provided [RCV000926379]	benign\|likely benign\|uncertain significance	8	86629031	86629031	Human	6	alternate_id
15194224	CV766898	single nucleotide variant	NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)	Achromatopsia 3 [RCV001162312]\|Achromatopsia [RCV001276124]\|CNGB3-related disorder [RCV004733090]\|Severe early-childhood-onset retinal dystrophy [RCV001162313]\|not provided [RCV000933583]	likely benign\|uncertain significance	8	86576075	86576075	Human	6	alternate_id
15129351	CV766903	single nucleotide variant	NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)	Achromatopsia 3 [RCV001162418]\|Achromatopsia [RCV001272741]\|Severe early-childhood-onset retinal dystrophy [RCV001162417]\|not provided [RCV000941867]	likely benign\|uncertain significance	8	86629052	86629052	Human	6	alternate_id
15128096	CV766908	single nucleotide variant	NM_019098.5(CNGB3):c.720C>T (p.Leu240=)	Achromatopsia 3 [RCV001162523]\|Achromatopsia [RCV001279841]\|Severe early-childhood-onset retinal dystrophy [RCV001162524]\|not provided [RCV000941658]	likely benign\|uncertain significance	8	86667057	86667057	Human	6	alternate_id
15163053	CV779561	single nucleotide variant	NM_019098.5(CNGB3):c.1178+9T>C	Achromatopsia 3 [RCV001164461]\|Achromatopsia [RCV001272742]\|Severe early-childhood-onset retinal dystrophy [RCV001164462]\|not provided [RCV000970399]	benign\|uncertain significance	8	86643742	86643742	Human	6	alternate_id
21070389	CV790002	deletion	NM_000350.3(ABCA4):c.6471del (p.Lys2158fs)	Severe early-childhood-onset retinal dystrophy [RCV000986344]\|not provided [RCV001858637]	pathogenic	1	94000844	94000844	Human	2	alternate_id
21070391	CV790003	deletion	NM_000350.3(ABCA4):c.6221del (p.Gly2074fs)	Severe early-childhood-onset retinal dystrophy [RCV000986346]	pathogenic	1	94001919	94001919	Human	2	alternate_id
21070392	CV790004	single nucleotide variant	NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe)	Severe early-childhood-onset retinal dystrophy [RCV000986348]	likely benign	1	94005581	94005581	Human	2	alternate_id
21070393	CV790005	single nucleotide variant	NM_000350.3(ABCA4):c.5714+1G>T	Severe early-childhood-onset retinal dystrophy [RCV000986349]\|not provided [RCV001071878]	pathogenic\|likely pathogenic	1	94010799	94010799	Human	2	alternate_id
21070394	CV790006	deletion	NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs)	Cone-rod dystrophy 3 [RCV005029545]\|Severe early-childhood-onset retinal dystrophy [RCV000986354]	pathogenic\|likely pathogenic	1	94021242	94021246	Human	6	alternate_id
21070397	CV790007	deletion	NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del)	Severe early-childhood-onset retinal dystrophy [RCV000986356]	pathogenic	1	94021880	94021885	Human	2	alternate_id
21070398	CV790008	deletion	NM_000350.3(ABCA4):c.4108del (p.His1370fs)	Severe early-childhood-onset retinal dystrophy [RCV000986357]\|not provided [RCV002549665]	pathogenic	1	94031798	94031798	Human	2	alternate_id
21070400	CV790009	microsatellite	NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs)	Severe early-childhood-onset retinal dystrophy [RCV000986358]\|not provided [RCV001071876]	pathogenic	1	94031869	94031870	Human		alternate_id
21070402	CV790010	deletion	NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs)	Severe early-childhood-onset retinal dystrophy [RCV000986359]\|not provided [RCV001858638]	pathogenic	1	94031902	94031903	Human	2	alternate_id
21070403	CV790011	single nucleotide variant	NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)	Severe early-childhood-onset retinal dystrophy [RCV000986361]\|not provided [RCV001244393]	pathogenic	1	94037229	94037229	Human	2	alternate_id
21070405	CV790012	single nucleotide variant	NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)	Severe early-childhood-onset retinal dystrophy [RCV000986362]\|not provided [RCV001858639]	likely pathogenic\|uncertain significance	1	94037260	94037260	Human	2	alternate_id
21070406	CV790013	deletion	NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del)	Severe early-childhood-onset retinal dystrophy [RCV000986363]\|not provided [RCV001858640]	likely pathogenic\|uncertain significance	1	94037289	94037294	Human	2	alternate_id
21070408	CV790014	single nucleotide variant	NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly)	Retinal dystrophy [RCV004818091]\|Severe early-childhood-onset retinal dystrophy [RCV000986364]	likely pathogenic\|uncertain significance	1	94041346	94041346	Human	4	alternate_id
21070409	CV790015	single nucleotide variant	NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly)	Severe early-childhood-onset retinal dystrophy [RCV000986367]	likely pathogenic	1	94055161	94055161	Human	2	alternate_id
21070411	CV790016	single nucleotide variant	NM_000350.3(ABCA4):c.2161-1G>A	Severe early-childhood-onset retinal dystrophy [RCV000986368]	pathogenic	1	94056823	94056823	Human	2	alternate_id
21070412	CV790017	single nucleotide variant	NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)	Severe early-childhood-onset retinal dystrophy [RCV000986370]\|Stargardt disease [RCV001002841]\|not provided [RCV001858641]	pathogenic\|likely pathogenic	1	94062668	94062668	Human	2	alternate_id
21070413	CV790018	single nucleotide variant	NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)	Severe early-childhood-onset retinal dystrophy [RCV000986371]\|not provided [RCV001869332]	pathogenic\|uncertain significance	1	94077880	94077880	Human	2	alternate_id
21070415	CV790019	single nucleotide variant	NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)	Severe early-childhood-onset retinal dystrophy [RCV000986377]\|not provided [RCV005092967]	pathogenic	1	94121010	94121010	Human	2	alternate_id
21071293	CV790453	single nucleotide variant	NM_006017.3(PROM1):c.1984-1G>T	Cone-rod dystrophy [RCV003324540]\|Leber congenital amaurosis [RCV003324541]\|PROM1-related disorder [RCV004536013]\|Retinitis pigmentosa 41 [RCV000987420]\|Stargardt disease [RCV002467454]\|not provided [RCV001049161]	pathogenic\|likely pathogenic	4	15989825	15989825	Human	7	alternate_id
21071297	CV790456	single nucleotide variant	NM_006017.3(PROM1):c.784+1G>A	Leber congenital amaurosis [RCV003324543]\|Retinal dystrophy [RCV001075553]\|Retinitis pigmentosa 41 [RCV000987424]\|Stargardt disease [RCV002466264]\|not provided [RCV001047807]	pathogenic\|likely pathogenic	4	16023325	16023325	Human	5	alternate_id
21071896	CV794733	single nucleotide variant	NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)	Retinal dystrophy [RCV004818106]\|Stargardt disease [RCV001199625]\|not provided [RCV000994034]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94008812	94008812	Human	3	alternate_id
21404203	CV799030	single nucleotide variant	NM_019098.5(CNGB3):c.1781+1G>T	Achromatopsia 3 [RCV000999643]	pathogenic	8	86604092	86604092	Human	1	alternate_id
21404776	CV800450	deletion	NM_000350.3(ABCA4):c.6077del (p.Leu2026fs)	Stargardt disease [RCV001002808]	pathogenic	1	94005511	94005511	Human	1	alternate_id
21404783	CV800452	single nucleotide variant	NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)	Stargardt disease [RCV001002814]\|not provided [RCV001035476]	pathogenic\|likely pathogenic	1	94014623	94014623	Human	1	alternate_id
21404785	CV800453	single nucleotide variant	NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)	Stargardt disease [RCV001002815]\|not provided [RCV003769391]	pathogenic	1	94014652	94014652	Human	1	alternate_id
21404791	CV800455	single nucleotide variant	NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)	Retinal dystrophy [RCV004818134]\|Stargardt disease [RCV001002820]\|not provided [RCV001388592]	pathogenic	1	94019609	94019609	Human	3	alternate_id
21404792	CV800456	deletion	NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)	Stargardt disease [RCV001002821]\|not provided [RCV003769392]	pathogenic	1	94019719	94019719	Human	1	alternate_id
21404795	CV800458	single nucleotide variant	NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	Retinal dystrophy [RCV001074894]\|Severe early-childhood-onset retinal dystrophy [RCV004563619]\|Stargardt disease [RCV001002824]\|not provided [RCV001216794]	pathogenic\|likely pathogenic\|uncertain significance	1	94021404	94021404	Human	4	alternate_id
21404801	CV800459	deletion	NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del)	Stargardt disease [RCV001002833]	pathogenic	1	94041280	94041282	Human	1	alternate_id
21404808	CV800460	single nucleotide variant	NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu)	Stargardt disease [RCV001002842]	likely pathogenic	1	94063114	94063114	Human	1	alternate_id
21404811	CV800461	deletion	NM_000350.3(ABCA4):c.1172del (p.Lys391fs)	Stargardt disease [RCV001002845]	pathogenic	1	94079389	94079389	Human	1	alternate_id
21404814	CV800462	deletion	NM_000350.3(ABCA4):c.834del (p.Asp279fs)	Retinal dystrophy [RCV001074665]\|Retinitis pigmentosa 19 [RCV001542646]\|Stargardt disease [RCV001002846]\|not provided [RCV001008400]	pathogenic\|likely pathogenic	1	94083376	94083376	Human	4	alternate_id
21404816	CV800463	single nucleotide variant	NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr)	Retinal dystrophy [RCV004818135]\|Stargardt disease [RCV001002847]\|not provided [RCV001860519]	likely pathogenic\|uncertain significance	1	94103133	94103133	Human	3	alternate_id
21404818	CV800464	single nucleotide variant	NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser)	Stargardt disease [RCV001002848]	likely pathogenic	1	94111498	94111498	Human	1	alternate_id
21404799	CV800685	single nucleotide variant	NM_000350.3(ABCA4):c.4254-1G>A	Retinal dystrophy [RCV001074402]\|Stargardt disease [RCV001002830]	pathogenic\|likely pathogenic	1	94030527	94030527	Human	3	alternate_id
21404970	CV800697	single nucleotide variant	NM_001844.5(COL2A1):c.1527+135G>A	Stargardt disease [RCV001002986]\|Stickler syndrome type 1 [RCV005253675]\|not provided [RCV001571488]	pathogenic	12	47986201	47986201	Human	2	alternate_id
38464738	CV801310	microsatellite	NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu)	Retinal dystrophy [RCV004818163]\|Stargardt disease [RCV001199626]	pathogenic\|likely pathogenic	1	94007726	94007727	Human		alternate_id
38464725	CV801311	single nucleotide variant	NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)	ABCA4-related retinopathy [RCV005359739]\|Isolated macular dystrophy [RCV001199622]\|Retinal dystrophy [RCV004818161]\|Severe early-childhood-onset retinal dystrophy [RCV001352943]\|not provided [RCV001450679]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	94014674	94014674	Human	4	alternate_id
38465184	CV801314	single nucleotide variant	NM_000350.3(ABCA4):c.4848+1G>T	Stargardt disease [RCV001199631]	pathogenic	1	94021639	94021639	Human	1	alternate_id
38464679	CV801319	deletion	NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs)	Stargardt disease [RCV001199607]	pathogenic	1	94048879	94048880	Human	1	alternate_id
38464662	CV801325	microsatellite	NM_000350.3(ABCA4):c.2012_2013del (p.Val671fs)	Retinitis pigmentosa [RCV001199603]\|Severe early-childhood-onset retinal dystrophy [RCV004761860]	pathogenic	1	94060684	94060685	Human		alternate_id
38464652	CV801327	deletion	NM_000350.3(ABCA4):c.1454del (p.Gly485fs)	Retinal dystrophy [RCV004818160]\|Stargardt disease [RCV001199601]	pathogenic	1	94077790	94077790	Human	3	alternate_id
38464720	CV801329	duplication	NM_000350.3(ABCA4):c.517dup (p.Leu173fs)	Stargardt disease [RCV001199621]	pathogenic	1	94103067	94103068	Human	1	alternate_id
28912200	CV801386	single nucleotide variant	NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter)	Retinal dystrophy [RCV004818157]\|Stargardt disease [RCV001199560]\|not provided [RCV001093077]	pathogenic	6	35503760	35503760	Human	3	alternate_id
38464732	CV801502	duplication	NM_000350.3(ABCA4):c.571_580dup	Retinal dystrophy [RCV004818162]\|Stargardt disease [RCV001199624]	pathogenic	1	94098981	94098982	Human	3	alternate_id
25314700	CV818175	single nucleotide variant	NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro)	Severe early-childhood-onset retinal dystrophy [RCV001029767]	likely pathogenic	1	94005475	94005475	Human	2	alternate_id
25314804	CV818177	deletion	NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)	Severe early-childhood-onset retinal dystrophy [RCV001029826]\|Stargardt disease 3 [RCV004559836]\|not provided [RCV001873430]	pathogenic	1	94103094	94103097	Human	3	alternate_id
26890030	CV824455	single nucleotide variant	NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)	Cone-rod dystrophy 3 [RCV002471022]\|Cone-rod dystrophy 3 [RCV005029638]\|Retinal dystrophy [RCV004813655]\|not provided [RCV001058803]	pathogenic\|likely pathogenic\|uncertain significance	1	94010872	94010872	Human	3	alternate_id
26916833	CV824456	single nucleotide variant	NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)	Cone-rod dystrophy 3 [RCV002479263]\|Retinitis pigmentosa [RCV001270350]\|not provided [RCV001040976]	likely pathogenic\|uncertain significance	1	94014620	94014620	Human	3	alternate_id
26916257	CV824477	single nucleotide variant	NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)	Retinal dystrophy [RCV004813571]\|Severe early-childhood-onset retinal dystrophy [RCV001352962]\|not provided [RCV001040117]	pathogenic\|likely pathogenic	1	94044716	94044716	Human	4	alternate_id
26893946	CV824478	single nucleotide variant	NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met)	ABCA4-related retinopathy [RCV005359834]\|Cone-rod dystrophy 3 [RCV005029647]\|Retinal dystrophy [RCV004813673]\|not provided [RCV001063061]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94044733	94044733	Human	8	alternate_id
26907323	CV824482	single nucleotide variant	NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter)	Retinal dystrophy [RCV001073797]\|Severe early-childhood-onset retinal dystrophy [RCV004594246]\|not provided [RCV001068714]	pathogenic\|likely pathogenic	1	94051660	94051660	Human	4	alternate_id
26895626	CV824485	single nucleotide variant	NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)	Retinal dystrophy [RCV004813678]\|Stargardt disease [RCV002469338]\|not provided [RCV001064178]	pathogenic\|likely pathogenic\|uncertain significance	1	94055302	94055302	Human	3	alternate_id
26885389	CV824497	single nucleotide variant	NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)	ABCA4-related retinopathy [RCV005359819]\|Cone-rod dystrophy 3 [RCV002481977]\|Retinal dystrophy [RCV004813627]\|not provided [RCV001053452]	uncertain significance	1	94062722	94062722	Human	8	alternate_id
26919501	CV824499	single nucleotide variant	NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)	Stargardt disease [RCV005429299]\|not provided [RCV001045652]	pathogenic\|likely pathogenic\|uncertain significance	1	94063280	94063280	Human	1	alternate_id
26904204	CV824501	single nucleotide variant	NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter)	Cone-rod dystrophy 3 [RCV005036344]\|Retinal dystrophy [RCV001075839]\|not provided [RCV001052785]	pathogenic\|likely pathogenic	1	94077748	94077748	Human	3	alternate_id
26893923	CV824502	single nucleotide variant	NM_000350.3(ABCA4):c.1342A>G (p.Met448Val)	Cone-rod dystrophy 3 [RCV005036365]\|not provided [RCV001063057]\|not specified [RCV004702620]	pathogenic\|likely pathogenic\|uncertain significance	1	94078604	94078604	Human	1	alternate_id
26905704	CV824513	duplication	NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)	Cone-rod dystrophy 3 [RCV002471023]\|Retinal dystrophy [RCV001074519]\|Severe early-childhood-onset retinal dystrophy [RCV001352948]\|not provided [RCV001059911]	pathogenic\|likely pathogenic	1	94111489	94111490	Human	5	alternate_id
26907201	CV824517	single nucleotide variant	NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter)	Retinal dystrophy [RCV001074538]\|Retinitis pigmentosa [RCV005236580]\|Severe early-childhood-onset retinal dystrophy [RCV005232105]\|not provided [RCV001067891]	pathogenic\|likely pathogenic	1	94113040	94113040	Human	6	alternate_id
26922168	CV831959	single nucleotide variant	NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)	PRPH2-related disorder [RCV001051591]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250315]\|Stargardt disease [RCV001250332]\|not provided [RCV001530252]	likely pathogenic\|uncertain significance	6	42704510	42704510	Human	2	alternate_id
26889057	CV835088	single nucleotide variant	NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn)	Achromatopsia 3 [RCV001162610]\|Severe early-childhood-onset retinal dystrophy [RCV001162611]\|not provided [RCV001057922]	uncertain significance	8	86739698	86739698	Human	3	alternate_id
26906828	CV850822	single nucleotide variant	NM_000350.3(ABCA4):c.859-9T>C	ABCA4-related disorder [RCV004536128]\|Cone-rod dystrophy 3 [RCV005036373]\|Retinal dystrophy [RCV001074005]\|Severe early-childhood-onset retinal dystrophy [RCV005235516]\|not provided [RCV001065436]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	1	94080727	94080727	Human	8	alternate_id
26916469	CV851007	single nucleotide variant	NM_000350.3(ABCA4):c.5460+3G>A	Stargardt disease [RCV002468616]\|not provided [RCV001040442]	likely pathogenic\|uncertain significance	1	94014540	94014540	Human	1	alternate_id
26916332	CV851327	duplication	NM_000350.3(ABCA4):c.1356+4dup	Severe early-childhood-onset retinal dystrophy [RCV001593204]\|not provided [RCV001040253]	uncertain significance	1	94078585	94078586	Human	2	alternate_id
26909716	CV856029	single nucleotide variant	NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)	Cone-rod dystrophy 3 [RCV005029676]\|Retinal dystrophy [RCV001073878]\|Severe early-childhood-onset retinal dystrophy [RCV004564573]\|not provided [RCV001371824]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	1	93997872	93997872	Human	8	alternate_id
26909463	CV856037	single nucleotide variant	NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val)	Cone-rod dystrophy 3 [RCV005029675]\|Retinal dystrophy [RCV001073480]\|Retinitis pigmentosa [RCV004587039]\|not provided [RCV003558652]	pathogenic\|likely pathogenic	1	94001949	94001949	Human	5	alternate_id
26910153	CV856040	single nucleotide variant	NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)	Retinal dystrophy [RCV001074505]\|Severe early-childhood-onset retinal dystrophy [RCV004570317]\|not provided [RCV001366334]	pathogenic\|uncertain significance	1	94005494	94005494	Human	4	alternate_id
26910043	CV856042	single nucleotide variant	NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)	Retinal dystrophy [RCV001074320]\|Severe early-childhood-onset retinal dystrophy [RCV004570316]\|not provided [RCV001209734]	pathogenic\|uncertain significance	1	94007688	94007688	Human	4	alternate_id
26910794	CV856046	single nucleotide variant	NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln)	Retinal dystrophy [RCV001075476]\|Severe early-childhood-onset retinal dystrophy [RCV004564578]\|not provided [RCV001862615]	uncertain significance	1	94008762	94008762	Human	4	alternate_id
26909374	CV856060	single nucleotide variant	NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)	Cone-rod dystrophy 3 [RCV005029673]\|Retinal dystrophy [RCV001073357]\|not provided [RCV001247223]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94019719	94019719	Human	3	alternate_id
26909722	CV856064	deletion	NM_000350.3(ABCA4):c.4880del (p.Leu1627fs)	ABCA4-related disorder [RCV004733149]\|Retinal dystrophy [RCV001073887]\|Severe early-childhood-onset retinal dystrophy [RCV004564574]\|not provided [RCV001232685]	pathogenic\|likely pathogenic	1	94021378	94021378	Human	4	alternate_id
26910712	CV856066	single nucleotide variant	NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)	Retinal dystrophy [RCV001075350]\|Severe early-childhood-onset retinal dystrophy [RCV004564577]\|Stargardt disease [RCV004017784]\|not provided [RCV001340257]	pathogenic\|likely pathogenic\|uncertain significance	1	94021846	94021846	Human	4	alternate_id
26909630	CV856067	single nucleotide variant	NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)	Cone-rod dystrophy 3 [RCV002505662]\|Retinal dystrophy [RCV001073758]\|not provided [RCV001359813]	uncertain significance	1	94021854	94021854	Human	3	alternate_id
26910471	CV856071	single nucleotide variant	NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)	ABCA4-related disorder [RCV004733152]\|Retinal dystrophy [RCV001075014]\|Severe early-childhood-onset retinal dystrophy [RCV004564576]\|not provided [RCV001220523]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94023386	94023386	Human	4	alternate_id
26909371	CV856080	single nucleotide variant	NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)	Cone-rod dystrophy 3 [RCV002497485]\|Retinal dystrophy [RCV001073352]\|not provided [RCV001220401]	uncertain significance	1	94041315	94041315	Human	3	alternate_id
26909533	CV856084	single nucleotide variant	NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)	Cone-rod dystrophy 3 [RCV005036386]\|Retinal dystrophy [RCV001073590]\|not provided [RCV003405293]	pathogenic\|likely pathogenic	1	94041345	94041345	Human	3	alternate_id
26909406	CV856085	single nucleotide variant	NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly)	Retinal dystrophy [RCV001073403]\|Severe early-childhood-onset retinal dystrophy [RCV004559902]	likely pathogenic\|uncertain significance	1	94041348	94041348	Human	4	alternate_id
26910174	CV856097	single nucleotide variant	NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)	Cone-rod dystrophy 3 [RCV002505665]\|Retinal dystrophy [RCV001074539]\|not provided [RCV001346357]	uncertain significance	1	94055122	94055122	Human	3	alternate_id
26910195	CV856103	single nucleotide variant	NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)	Cone-rod dystrophy 3 [RCV005029680]\|Retinal dystrophy [RCV001074567]\|Severe early-childhood-onset retinal dystrophy [RCV001376519]\|not provided [RCV001381381]	pathogenic	1	94060702	94060702	Human	8	alternate_id
26909433	CV856108	single nucleotide variant	NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)	Cone-rod dystrophy 3 [RCV005029674]\|Retinal dystrophy [RCV001073439]\|not provided [RCV001862502]	pathogenic\|likely pathogenic	1	94063146	94063146	Human	3	alternate_id
26910202	CV856119	single nucleotide variant	NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)	Retinal dystrophy [RCV001074574]\|Severe early-childhood-onset retinal dystrophy [RCV001729794]\|Stargardt disease 3 [RCV004559903]\|not provided [RCV001268174]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	94080709	94080709	Human	5	alternate_id
26910690	CV856454	single nucleotide variant	NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)	PRPH2-related disorder [RCV001386137]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250333]\|Retinal dystrophy [RCV001075315]\|Stargardt disease [RCV001250334]\|not provided [RCV001530324]	pathogenic\|likely pathogenic	6	42704485	42704485	Human	4	alternate_id
26910487	CV856459	single nucleotide variant	NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)	PRPH2-related disorder [RCV001228233]\|Retinal dystrophy [RCV001075038]\|Stargardt disease [RCV001250313]\|not provided [RCV001530249]	pathogenic\|likely pathogenic\|uncertain significance	6	42704528	42704528	Human	4	alternate_id
26909549	CV856470	single nucleotide variant	NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)	PRPH2-related disorder [RCV001862510]\|Retinal dystrophy [RCV001073624]\|Stargardt disease [RCV001250293]\|not provided [RCV001530300]	pathogenic\|likely pathogenic	6	42722089	42722089	Human	4	alternate_id
26910194	CV857141	single nucleotide variant	NM_000350.3(ABCA4):c.6817-2A>G	Retinal dystrophy [RCV001074566]\|Severe early-childhood-onset retinal dystrophy [RCV003989637]\|not provided [RCV001862833]	pathogenic\|likely pathogenic	1	93993244	93993244	Human	4	alternate_id
26909965	CV857147	single nucleotide variant	NM_000350.3(ABCA4):c.4849-1G>A	ABCA4-related disorder [RCV004733150]\|Cone-rod dystrophy 3 [RCV005029679]\|Retinal dystrophy [RCV001074206]\|Severe early-childhood-onset retinal dystrophy [RCV004564575]\|not provided [RCV001235111]	pathogenic\|likely pathogenic	1	94021410	94021410	Human	8	alternate_id
26910499	CV857160	single nucleotide variant	NM_000350.3(ABCA4):c.3523-2A>G	Retinal dystrophy [RCV001075055]\|Severe early-childhood-onset retinal dystrophy [RCV005235521]	pathogenic\|likely pathogenic	1	94040129	94040129	Human	4	alternate_id
26910644	CV857174	single nucleotide variant	NM_000350.3(ABCA4):c.302+4A>C	Cone-rod dystrophy 3 [RCV005029682]\|Retinal dystrophy [RCV001075244]\|Retinitis pigmentosa 19 [RCV005253712]\|Retinitis pigmentosa [RCV004689988]\|not provided [RCV005093414]	pathogenic\|likely pathogenic	1	94111434	94111434	Human	6	alternate_id
28887191	CV858972	microsatellite	NM_000350.3(ABCA4):c.4246TTC[1] (p.Phe1417del)	Retinal dystrophy [RCV004813745]\|Severe early-childhood-onset retinal dystrophy [RCV004564579]\|not provided [RCV001091947]	pathogenic\|conflicting interpretations of pathogenicity	1	94030998	94031000	Human		alternate_id
28884832	CV858974	deletion	NM_000350.3(ABCA4):c.967del (p.Leu323fs)	Stargardt disease [RCV005418992]\|not provided [RCV001091617]	pathogenic	1	94080610	94080610	Human	1	alternate_id
28884656	CV864842	single nucleotide variant	NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)	ABCA4-related disorder [RCV001097881]\|Cone-rod dystrophy 3 [RCV002489742]\|not provided [RCV001856321]	uncertain significance	1	93996120	93996120	Human	6	alternate_id
28909027	CV900096	single nucleotide variant	NM_019098.4(CNGB3):c.*1733T>C	Achromatopsia 3 [RCV001160380]\|Severe early-childhood-onset retinal dystrophy [RCV001160381]	uncertain significance	8	86574071	86574071	Human	3	alternate_id
28909030	CV900097	single nucleotide variant	NM_019098.4(CNGB3):c.*1705A>C	Achromatopsia 3 [RCV001160382]\|Severe early-childhood-onset retinal dystrophy [RCV001160383]	uncertain significance	8	86574099	86574099	Human	3	alternate_id
28867689	CV900098	single nucleotide variant	NM_019098.4(CNGB3):c.*1654C>T	Achromatopsia 3 [RCV001162032]\|Severe early-childhood-onset retinal dystrophy [RCV001162033]	uncertain significance	8	86574150	86574150	Human	3	alternate_id
28871633	CV900099	single nucleotide variant	NM_019098.5(CNGB3):c.*1476T>A	Achromatopsia 3 [RCV001164045]\|Severe early-childhood-onset retinal dystrophy [RCV001164044]	uncertain significance	8	86574328	86574328	Human	3	alternate_id
28906769	CV900100	single nucleotide variant	NM_019098.5(CNGB3):c.*1431G>A	Achromatopsia 3 [RCV001159141]\|Severe early-childhood-onset retinal dystrophy [RCV001159140]	uncertain significance	8	86574373	86574373	Human	3	alternate_id
28909226	CV900101	single nucleotide variant	NM_019098.5(CNGB3):c.*1218C>T	Achromatopsia 3 [RCV001160493]\|Severe early-childhood-onset retinal dystrophy [RCV001160492]	uncertain significance	8	86574586	86574586	Human	3	alternate_id
28909228	CV900102	single nucleotide variant	NM_019098.5(CNGB3):c.*1143T>C	Achromatopsia 3 [RCV001160494]\|Severe early-childhood-onset retinal dystrophy [RCV001160495]	uncertain significance	8	86574661	86574661	Human	3	alternate_id
28867848	CV900103	single nucleotide variant	NM_019098.5(CNGB3):c.*997A>G	Achromatopsia 3 [RCV001162126]\|Severe early-childhood-onset retinal dystrophy [RCV001162127]	benign\|likely benign	8	86574807	86574807	Human	3	alternate_id
28867850	CV900104	single nucleotide variant	NM_019098.5(CNGB3):c.*915G>C	Achromatopsia 3 [RCV001162129]\|Severe early-childhood-onset retinal dystrophy [RCV001162128]	benign	8	86574889	86574889	Human	3	alternate_id
28867854	CV900105	single nucleotide variant	NM_019098.5(CNGB3):c.*800C>G	Achromatopsia 3 [RCV001162131]\|Severe early-childhood-onset retinal dystrophy [RCV001162130]	uncertain significance	8	86575004	86575004	Human	3	alternate_id
28871874	CV900106	single nucleotide variant	NM_019098.5(CNGB3):c.*737T>C	Achromatopsia 3 [RCV001164146]\|Severe early-childhood-onset retinal dystrophy [RCV001164147]	uncertain significance	8	86575067	86575067	Human	3	alternate_id
28906951	CV900107	single nucleotide variant	NM_019098.5(CNGB3):c.*649A>G	Achromatopsia 3 [RCV001159238]\|Severe early-childhood-onset retinal dystrophy [RCV001159237]	uncertain significance	8	86575155	86575155	Human	3	alternate_id
28906955	CV900108	single nucleotide variant	NM_019098.5(CNGB3):c.*570T>C	Achromatopsia 3 [RCV001159240]\|Severe early-childhood-onset retinal dystrophy [RCV001159239]	uncertain significance	8	86575234	86575234	Human	3	alternate_id
28906957	CV900109	single nucleotide variant	NM_019098.5(CNGB3):c.*499G>C	Achromatopsia 3 [RCV001159241]\|Severe early-childhood-onset retinal dystrophy [RCV001159242]	uncertain significance	8	86575305	86575305	Human	3	alternate_id
28909400	CV900110	single nucleotide variant	NM_019098.5(CNGB3):c.*435G>A	Achromatopsia 3 [RCV001160593]\|Severe early-childhood-onset retinal dystrophy [RCV001160592]	uncertain significance	8	86575369	86575369	Human	3	alternate_id
28867973	CV900111	single nucleotide variant	NM_019098.5(CNGB3):c.*291T>A	Achromatopsia 3 [RCV001162207]\|Severe early-childhood-onset retinal dystrophy [RCV001162208]	uncertain significance	8	86575513	86575513	Human	3	alternate_id
28867975	CV900112	single nucleotide variant	NM_019098.5(CNGB3):c.*272G>T	Achromatopsia 3 [RCV001162210]\|Severe early-childhood-onset retinal dystrophy [RCV001162209]	uncertain significance	8	86575532	86575532	Human	3	alternate_id
28867979	CV900113	single nucleotide variant	NM_019098.5(CNGB3):c.*183A>C	Achromatopsia 3 [RCV001162211]\|Severe early-childhood-onset retinal dystrophy [RCV001162212]	uncertain significance	8	86575621	86575621	Human	3	alternate_id
28872085	CV900114	single nucleotide variant	NM_019098.5(CNGB3):c.*108C>T	Achromatopsia 3 [RCV001164238]\|Severe early-childhood-onset retinal dystrophy [RCV001164237]\|not provided [RCV004695066]	uncertain significance	8	86575696	86575696	Human	3	alternate_id
28907130	CV900115	single nucleotide variant	NM_019098.5(CNGB3):c.*29G>T	Achromatopsia 3 [RCV001159335]\|Severe early-childhood-onset retinal dystrophy [RCV001159334]	uncertain significance	8	86575775	86575775	Human	3	alternate_id
28907132	CV900116	single nucleotide variant	NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)	Achromatopsia 3 [RCV001159336]\|Inborn genetic diseases [RCV002558410]\|Severe early-childhood-onset retinal dystrophy [RCV001159337]	uncertain significance	8	86575811	86575811	Human	4	alternate_id
28907134	CV900117	single nucleotide variant	NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)	Achromatopsia 3 [RCV001159338]\|Severe early-childhood-onset retinal dystrophy [RCV001159339]\|not provided [RCV002558411]	uncertain significance	8	86575815	86575815	Human	3	alternate_id
28909554	CV900118	single nucleotide variant	NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)	Achromatopsia 3 [RCV001160704]\|Severe early-childhood-onset retinal dystrophy [RCV001160705]	uncertain significance	8	86575884	86575884	Human	3	alternate_id
28868149	CV900119	single nucleotide variant	NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)	Achromatopsia 3 [RCV001162314]\|Achromatopsia [RCV001828576]\|Inborn genetic diseases [RCV003353182]\|Severe early-childhood-onset retinal dystrophy [RCV001162315]\|not provided [RCV001247986]	likely benign\|uncertain significance	8	86578705	86578705	Human	7	alternate_id
28907269	CV900120	single nucleotide variant	NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)	Achromatopsia 3 [RCV001159423]\|Severe early-childhood-onset retinal dystrophy [RCV001159424]	uncertain significance	8	86604101	86604101	Human	3	alternate_id
28909691	CV900121	single nucleotide variant	NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)	Achromatopsia 3 [RCV001160800]\|Achromatopsia [RCV001828574]\|Severe early-childhood-onset retinal dystrophy [RCV001160801]\|not provided [RCV001240796]	likely benign\|uncertain significance	8	86626046	86626046	Human	6	alternate_id
28872573	CV900122	single nucleotide variant	NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg)	Achromatopsia 3 [RCV001164463]\|Severe early-childhood-onset retinal dystrophy [RCV001164464]	uncertain significance	8	86647802	86647802	Human	3	alternate_id
28868486	CV900123	single nucleotide variant	NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)	Achromatopsia 3 [RCV001160908]\|Severe early-childhood-onset retinal dystrophy [RCV001162522]\|not provided [RCV001474218]	likely benign\|uncertain significance	8	86667056	86667056	Human	3	alternate_id
28868490	CV900124	single nucleotide variant	NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn)	Achromatopsia 3 [RCV001164560]\|Severe early-childhood-onset retinal dystrophy [RCV001162525]\|not provided [RCV002558550]	uncertain significance	8	86667100	86667100	Human	3	alternate_id
28907610	CV900125	single nucleotide variant	NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu)	Achromatopsia 3 [RCV001159642]\|Retinal dystrophy [RCV004813812]\|Severe early-childhood-onset retinal dystrophy [RCV001159643]	uncertain significance	8	86670964	86670964	Human	5	alternate_id
28907614	CV900126	single nucleotide variant	NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr)	Achromatopsia 3 [RCV001159646]\|Severe early-childhood-onset retinal dystrophy [RCV001159645]	uncertain significance	8	86670977	86670977	Human	3	alternate_id
28909977	CV900127	single nucleotide variant	NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu)	Achromatopsia 3 [RCV001161024]\|Severe early-childhood-onset retinal dystrophy [RCV001161025]	uncertain significance	8	86671050	86671050	Human	3	alternate_id
28873002	CV900128	single nucleotide variant	NM_019098.5(CNGB3):c.-1G>A	Achromatopsia 3 [RCV001164672]\|Severe early-childhood-onset retinal dystrophy [RCV001164671]	uncertain significance	8	86743628	86743628	Human	3	alternate_id
34890998	CV905881	deletion	NM_000350.3(ABCA4):c.6146del (p.Lys2049fs)	Retinitis pigmentosa 19 [RCV005253730]\|Severe early-childhood-onset retinal dystrophy [RCV001250529]\|Stargardt disease [RCV001174687]\|not provided [RCV003727942]	pathogenic	1	94005442	94005442	Human	3	alternate_id
38462790	CV918665	single nucleotide variant	NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)	Age related macular degeneration 2 [RCV001196793]\|Cone-rod dystrophy 3 [RCV005359925]\|Severe early-childhood-onset retinal dystrophy [RCV001352988]\|not provided [RCV001233979]	likely pathogenic\|uncertain significance	1	94098886	94098886	Human	6	alternate_id
38471013	CV930698	single nucleotide variant	NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg)	Retinal dystrophy [RCV004813895]\|Severe early-childhood-onset retinal dystrophy [RCV001376391]\|not provided [RCV001213685]	uncertain significance	1	94055225	94055225	Human	4	alternate_id
38458608	CV930702	inversion	NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)	Stargardt disease [RCV002471046]\|not provided [RCV001211455]	uncertain significance	1	94078678	94078679	Human		alternate_id
38471031	CV933337	single nucleotide variant	NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu)	PRPH2-related disorder [RCV001208448]\|Stargardt disease [RCV001250305]\|not provided [RCV001530284]	uncertain significance	6	42721932	42721932	Human	2	alternate_id
38477813	CV933524	single nucleotide variant	NM_022726.4(ELOVL4):c.226C>T (p.Arg76Cys)	Spinocerebellar ataxia type 34 [RCV005036457]\|not provided [RCV001205258]	uncertain significance	6	79926256	79926256	Human	1	alternate_id
38479819	CV939832	single nucleotide variant	NM_000350.3(ABCA4):c.303-3C>T	Cone-rod dystrophy 3 [RCV002484113]\|not provided [RCV001206140]	uncertain significance	1	94108719	94108719	Human	1	alternate_id
38471078	CV940038	single nucleotide variant	NM_000322.5(PRPH2):c.582-1G>A	Choroideremia [RCV005419038]\|PRPH2-related disorder [RCV001212443]\|Retinal dystrophy [RCV004813889]\|Stargardt disease [RCV001250354]\|not provided [RCV001530353]	pathogenic\|likely pathogenic	6	42704612	42704612	Human	6	alternate_id
38475811	CV942123	single nucleotide variant	NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly)	Severe early-childhood-onset retinal dystrophy [RCV003313997]\|not provided [RCV001232792]	pathogenic\|likely pathogenic\|uncertain significance	1	94037146	94037146	Human	2	alternate_id
38481568	CV942127	single nucleotide variant	NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)	Severe early-childhood-onset retinal dystrophy [RCV004557470]\|not provided [RCV001235193]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94041379	94041379	Human	2	alternate_id
38466209	CV942129	single nucleotide variant	NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val)	Cone-rod dystrophy 3 [RCV005036499]\|Retinitis pigmentosa [RCV004587084]\|not provided [RCV001230252]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	94046937	94046937	Human	3	alternate_id
38477105	CV942145	single nucleotide variant	NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)	Retinal dystrophy [RCV004813942]\|Severe early-childhood-onset retinal dystrophy [RCV001353021]\|not provided [RCV001233348]	pathogenic\|likely pathogenic	1	94120985	94120985	Human	4	alternate_id
38497195	CV943737	single nucleotide variant	NM_198506.5(LRIT3):c.277G>T (p.Val93Leu)	Stargardt disease [RCV002466640]\|not provided [RCV001226899]	pathogenic\|uncertain significance	4	109851664	109851664	Human	1	alternate_id
38471174	CV945035	deletion	NM_000322.5(PRPH2):c.318del (p.Leu107fs)	PRPH2-related disorder [RCV001229461]\|Patterned dystrophy of the retinal pigment epithelium [RCV001732083]\|Retinal dystrophy [RCV004813925]\|Stargardt disease [RCV001250300]\|not provided [RCV001530222]	pathogenic\|likely pathogenic	6	42722017	42722017	Human	4	alternate_id
38471194	CV945036	deletion	NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)	PRPH2-related disorder [RCV001232081]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250298]\|Stargardt disease [RCV001250299]\|not provided [RCV001530221]	pathogenic	6	42722022	42722025	Human	2	alternate_id
38493162	CV952532	single nucleotide variant	NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu)	Severe early-childhood-onset retinal dystrophy [RCV004562083]\|Stargardt disease [RCV005057139]\|not provided [RCV001240517]	pathogenic\|likely pathogenic	1	94001082	94001082	Human	2	alternate_id
38496644	CV952533	indel	NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)	Cone-rod dystrophy 3 [RCV002504344]\|not provided [RCV001242691]	pathogenic\|likely pathogenic	1	94007675	94007680	Human		alternate_id
38498343	CV952555	single nucleotide variant	NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)	Cone-rod dystrophy 3 [RCV002491814]\|Retinal dystrophy [RCV004813995]\|not provided [RCV001243761]	uncertain significance	1	94098796	94098796	Human	3	alternate_id
38482401	CV959571	single nucleotide variant	NM_000350.3(ABCA4):c.2382+1G>A	Stargardt disease [RCV005419046]\|not provided [RCV001235513]	pathogenic\|likely pathogenic	1	94056600	94056600	Human	1	alternate_id
38495951	CV960458	single nucleotide variant	NM_201548.5(CERKL):c.678-1G>A	Retinitis pigmentosa 26 [RCV003469461]\|Stargardt disease [RCV002466648]\|not provided [RCV001242249]	pathogenic\|likely pathogenic	2	181558709	181558709	Human	2	alternate_id
38465807	CV962010	single nucleotide variant	NM_000322.5(PRPH2):c.961G>T (p.Glu321Ter)	Stargardt disease [RCV001250381]\|not provided [RCV001530391]	pathogenic\|uncertain significance	6	42698375	42698375	Human	1	alternate_id
38465762	CV962014	single nucleotide variant	NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)	PRPH2-related disorder [RCV001387192]\|Stargardt disease [RCV001250310]\|not provided [RCV001530363]	pathogenic\|likely pathogenic	6	42704551	42704551	Human	2	alternate_id
38465758	CV962015	single nucleotide variant	NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)	PRPH2-related disorder [RCV002568706]\|Stargardt disease [RCV001250307]\|not provided [RCV001530361]	pathogenic\|likely pathogenic	6	42704555	42704555	Human	2	alternate_id
38465741	CV962017	single nucleotide variant	NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro)	PRPH2-related disorder [RCV003770295]\|Stargardt disease [RCV001250283]\|not provided [RCV001530237]	uncertain significance	6	42704579	42704579	Human	2	alternate_id
38465735	CV962018	single nucleotide variant	NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)	PRPH2-related disorder [RCV001879779]\|Patterned dystrophy of the retinal pigment epithelium [RCV001250281]\|Stargardt disease [RCV001250373]\|Vitelliform macular dystrophy 2 [RCV001250282]	pathogenic	6	42704581	42704581	Human	4	alternate_id
38465937	CV962020	duplication	NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs)	Stargardt disease [RCV001250278]\|not provided [RCV001530359]	pathogenic\|likely pathogenic	6	42704603	42704604	Human	1	alternate_id
38465804	CV962022	single nucleotide variant	NM_000322.5(PRPH2):c.541A>T (p.Ser181Cys)	Stargardt disease [RCV001250372]	uncertain significance	6	42721794	42721794	Human	1	alternate_id
38465772	CV962025	single nucleotide variant	NM_000322.5(PRPH2):c.458A>C (p.Lys153Thr)	Stargardt disease [RCV001250323]\|not provided [RCV001530341]	uncertain significance	6	42721877	42721877	Human	1	alternate_id
38465754	CV962026	single nucleotide variant	NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)	Cone-rod dystrophy [RCV001250301]\|PRPH2-related disorder [RCV001400129]\|Stargardt disease [RCV001250302]\|not provided [RCV001530280]	likely pathogenic\|likely benign\|uncertain significance	6	42721955	42721955	Human	5	alternate_id
38465749	CV962027	deletion	NM_000322.5(PRPH2):c.163del (p.Ser55fs)	PRPH2-related disorder [RCV001381387]\|Stargardt disease [RCV001250292]\|not provided [RCV001530294]	pathogenic	6	42722172	42722172	Human	2	alternate_id
38465787	CV962028	single nucleotide variant	NM_000322.5(PRPH2):c.828+2T>C	PRPH2-related disorder [RCV001301121]\|Stargardt disease [RCV001250343]\|not provided [RCV001530260]	pathogenic\|likely pathogenic\|uncertain significance	6	42704363	42704363	Human	2	alternate_id
40888008	CV972858	single nucleotide variant	NM_000539.3(RHO):c.361G>A (p.Gly121Ser)	Severe early-childhood-onset retinal dystrophy [RCV001265182]\|not provided [RCV001323778]	uncertain significance	3	129529094	129529094	Human	2	alternate_id
126730475	CV986106	deletion	NM_000554.6(CRX):c.590del (p.Pro197fs)	Leber congenital amaurosis 7 [RCV001925009]\|Retinal dystrophy [RCV004815748]\|Stargardt disease [RCV002466710]	pathogenic\|likely pathogenic\|uncertain significance	19	47839654	47839654	Human	5	alternate_id
8639791	CV98774	single nucleotide variant	NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4-related disorder [RCV004537308]\|Age related macular degeneration 2 [RCV001195927]\|Cone-rod dystrophy 3 [RCV002490678]\|Inborn genetic diseases [RCV005338078]\|Retinal dystrophy [RCV001074904]\|Severe early-childhood-onset retinal dystrophy [RCV000150052]\|Star ... (more) gardt disease [RCV001002834]\|not provided [RCV000078665]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	1	94042767	94042767	Human	9	alternate_id
8639794	CV98777	single nucleotide variant	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4-related disorder [RCV004732655]\|Age related macular degeneration 2 [RCV000678511]\|Benign concentric annular macular dystrophy [RCV000210325]\|Cone-rod dystrophy 3 [RCV000008366]\|Cone-rod dystrophy 3 [RCV000763440]\|Inborn genetic diseases [RCV004975272]\|Macular dystrophy [RCV000504857]\|Retinal d ... (more) ystrophy [RCV000210327]\|Retinitis pigmentosa 19 [RCV001542559]\|Retinitis pigmentosa [RCV000787510]\|Severe early-childhood-onset retinal dystrophy [RCV000177965]\|Stargardt disease [RCV000787771]\|not provided [RCV000078669]\|not specified [RCV001000430]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	94011395	94011395	Human	14	alternate_id
126734135	CV987772	single nucleotide variant	NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)	Severe early-childhood-onset retinal dystrophy [RCV001352990]\|Stargardt disease [RCV005236773]\|not provided [RCV001296443]	pathogenic\|likely pathogenic\|uncertain significance	1	94010823	94010823	Human	2	alternate_id
8639795	CV98778	single nucleotide variant	NM_000350.3(ABCA4):c.67-2A>G	Cone-rod dystrophy 3 [RCV005025131]\|Retinal dystrophy [RCV001074239]\|Severe early-childhood-onset retinal dystrophy [RCV000078672]\|Visual impairment [RCV000415227]\|not provided [RCV000723703]	pathogenic\|likely pathogenic	1	94113068	94113068	Human	15	alternate_id
126762406	CV987786	single nucleotide variant	NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)	Cone-rod dystrophy 3 [RCV002486156]\|not provided [RCV001300386]	uncertain significance	1	94043450	94043450	Human	1	alternate_id
126732620	CV987788	single nucleotide variant	NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg)	Severe early-childhood-onset retinal dystrophy [RCV001376520]\|not provided [RCV001294592]	likely pathogenic\|uncertain significance	1	94044647	94044647	Human	2	alternate_id
126737526	CV987797	single nucleotide variant	NM_000350.3(ABCA4):c.1694C>A (p.Pro565His)	Stargardt disease [RCV002468632]\|not provided [RCV001295365]	likely pathogenic\|likely benign\|uncertain significance	1	94063178	94063178	Human	1	alternate_id
126750392	CV987802	single nucleotide variant	NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser)	Cone-rod dystrophy 3 [RCV005029864]\|not provided [RCV001297313]\|not specified [RCV004690068]	likely pathogenic\|uncertain significance	1	94080558	94080558	Human	1	alternate_id
126759207	CV991810	single nucleotide variant	NM_022726.4(ELOVL4):c.164T>A (p.Leu55His)	Spinocerebellar ataxia type 34 [RCV005394913]\|not provided [RCV001299422]	uncertain significance	6	79926318	79926318	Human	1	alternate_id

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