Prom1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11583171	CV292712	single nucleotide variant	NM_006017.3(PROM1):c.-37C>T	Cone-Rod Dystrophy, Dominant [RCV000324335]\|Macular dystrophy, retinal [RCV000264638]\|Retinitis Pigmentosa, Recessive [RCV000378966]\|Stargardt Disease, Dominant [RCV000377929]	uncertain significance	4	16075943	16075943	Human	4	name
11583496	CV297538	deletion	NM_006017.3(PROM1):c.*84del	Cone-Rod Dystrophy, Dominant [RCV000302181]\|Macular dystrophy, retinal [RCV000266972]\|Retinitis Pigmentosa, Recessive [RCV000359246]\|Stargardt Disease, Dominant [RCV000305762]	likely benign	4	15969309	15969309	Human	4	name
11582422	CV297620	single nucleotide variant	NM_006017.3(PROM1):c.-25T>A	Cone-rod dystrophy 12 [RCV000354399]\|Retinal macular dystrophy type 2 [RCV000313534]\|Retinitis pigmentosa [RCV000319521]\|Stargardt disease 4 [RCV000259686]	benign\|likely benign\|uncertain significance	4	16075931	16075931	Human	5	name
11587419	CV292688	single nucleotide variant	NM_006017.3(PROM1):c.*667A>C	Cone-rod dystrophy 12 [RCV000348387]\|Retinal macular dystrophy type 2 [RCV000352014]\|Retinitis pigmentosa [RCV000386635]\|Stargardt disease 4 [RCV000294834]\|not provided [RCV001660729]	benign\|likely benign	4	15968726	15968726	Human	5	name
11653022	CV292691	single nucleotide variant	NM_006017.3(PROM1):c.*551A>T	Cone-rod dystrophy 12 [RCV000308271]\|Retinal macular dystrophy type 2 [RCV000408241]\|Retinitis pigmentosa [RCV000400044]\|Stargardt disease 4 [RCV000346622]	uncertain significance	4	15968842	15968842	Human	5	name
11585008	CV294067	single nucleotide variant	NM_006017.3(PROM1):c.*684C>T	Cone-rod dystrophy 12 [RCV000316805]\|Retinal macular dystrophy type 2 [RCV000278098]\|Retinitis pigmentosa [RCV000373870]\|Stargardt disease 4 [RCV000281713]	benign\|likely benign\|uncertain significance	4	15968709	15968709	Human	5	name
11589973	CV294081	single nucleotide variant	NM_006017.3(PROM1):c.-148G>A	Cone-rod dystrophy 12 [RCV000314617]\|Retinal macular dystrophy type 2 [RCV000396125]\|Retinitis pigmentosa [RCV000350732]\|Stargardt disease 4 [RCV000350327]	uncertain significance	4	16076054	16076054	Human	5	name
11582714	CV294082	single nucleotide variant	NM_006017.3(PROM1):c.-168G>A	Cone-rod dystrophy 12 [RCV000296943]\|Retinal macular dystrophy type 2 [RCV000356355]\|Retinitis pigmentosa [RCV000401292]\|Stargardt disease 4 [RCV000261622]	uncertain significance	4	16076074	16076074	Human	5	name
11645501	CV297480	single nucleotide variant	NM_006017.3(PROM1):c.*963A>G	Cone-rod dystrophy 12 [RCV000323028]\|Retinal macular dystrophy type 2 [RCV000358063]\|Retinitis pigmentosa [RCV000265688]\|Stargardt disease 4 [RCV000380018]	uncertain significance	4	15968430	15968430	Human	5	name
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	name
28874754	CV890365	single nucleotide variant	NM_006017.3(PROM1):c.*985C>G	Cone-rod dystrophy 12 [RCV001147340]\|Retinal macular dystrophy type 2 [RCV001148280]\|Retinitis pigmentosa [RCV001147339]\|Stargardt disease 4 [RCV001147341]	uncertain significance	4	15968408	15968408	Human	5	name
28870759	CV890366	single nucleotide variant	NM_006017.3(PROM1):c.*781G>A	Cone-rod dystrophy 12 [RCV001149842]\|Retinal macular dystrophy type 2 [RCV001145504]\|Retinitis pigmentosa [RCV001149844]\|Stargardt disease 4 [RCV001149843]	uncertain significance	4	15968612	15968612	Human	5	name
28870762	CV890367	single nucleotide variant	NM_006017.3(PROM1):c.*681C>G	Cone-rod dystrophy 12 [RCV001145505]\|Retinal macular dystrophy type 2 [RCV001145507]\|Retinitis pigmentosa [RCV001147454]\|Stargardt disease 4 [RCV001145506]	uncertain significance	4	15968712	15968712	Human	5	name
28875000	CV890368	single nucleotide variant	NM_006017.3(PROM1):c.*640T>A	Cone-rod dystrophy 12 [RCV001148385]\|Retinal macular dystrophy type 2 [RCV001147456]\|Retinitis pigmentosa [RCV001147457]\|Stargardt disease 4 [RCV001147455]	uncertain significance	4	15968753	15968753	Human	5	name
28877571	CV890369	single nucleotide variant	NM_006017.3(PROM1):c.*580T>A	Cone-rod dystrophy 12 [RCV001148388]\|Retinal macular dystrophy type 2 [RCV001148389]\|Retinitis pigmentosa [RCV001148387]\|Stargardt disease 4 [RCV001148386]	uncertain significance	4	15968813	15968813	Human	5	name
28882442	CV890370	single nucleotide variant	NM_006017.3(PROM1):c.*198T>C	Cone-rod dystrophy 12 [RCV001149948]\|Retinal macular dystrophy type 2 [RCV001149946]\|Retinitis pigmentosa [RCV001149947]\|Stargardt disease 4 [RCV001149945]	uncertain significance	4	15969195	15969195	Human	5	name
28870954	CV890371	single nucleotide variant	NM_006017.3(PROM1):c.*189A>G	Cone-rod dystrophy 12 [RCV001145609]\|Retinal macular dystrophy type 2 [RCV001149950]\|Retinitis pigmentosa [RCV001149951]\|Stargardt disease 4 [RCV001149949]	uncertain significance	4	15969204	15969204	Human	5	name
28870955	CV890372	single nucleotide variant	NM_006017.3(PROM1):c.*107G>T	Cone-rod dystrophy 12 [RCV001145613]\|Retinal macular dystrophy type 2 [RCV001145610]\|Retinitis pigmentosa [RCV001145612]\|Stargardt disease 4 [RCV001145611]	uncertain significance	4	15969286	15969286	Human	5	name
127246749	CV1055419	single nucleotide variant	NM_006017.3(PROM1):c.784+2T>C	not provided [RCV001377654]	pathogenic\|likely pathogenic	4	16023324	16023324	Human		name
127247807	CV1055420	single nucleotide variant	NM_006017.3(PROM1):c.220+2T>A	not provided [RCV001377841]	pathogenic\|likely pathogenic	4	16075685	16075685	Human		name
127276087	CV1093131	single nucleotide variant	NM_006017.3(PROM1):c.277-5T>A	not provided [RCV001432622]	likely benign	4	16035766	16035766	Human		name
127314212	CV1114681	single nucleotide variant	NM_006017.3(PROM1):c.509+8C>T	not provided [RCV001457632]	likely benign	4	16033296	16033296	Human		name
127314588	CV1154705	deletion	NM_006017.3(PROM1):c.221-5del	not provided [RCV001519669]	benign	4	16039006	16039006	Human		name
151348791	CV1324223	single nucleotide variant	NM_006017.3(PROM1):c.276+2T>C	Retinitis pigmentosa 41 [RCV001808139]	likely pathogenic	4	16038944	16038944	Human	1	name
151783942	CV1343896	single nucleotide variant	NM_006017.3(PROM1):c.220+6T>G	not provided [RCV002046417]	uncertain significance	4	16075681	16075681	Human		name
151761877	CV1455940	single nucleotide variant	NM_006017.3(PROM1):c.220+1G>C	not provided [RCV002044375]	pathogenic\|likely pathogenic	4	16075686	16075686	Human		name
152166995	CV1577335	single nucleotide variant	NM_006017.3(PROM1):c.630+8C>A	not provided [RCV002204596]	likely benign	4	16025184	16025184	Human		name
152143066	CV1636567	single nucleotide variant	NM_006017.3(PROM1):c.220+7G>A	not provided [RCV002120642]	likely benign	4	16075680	16075680	Human		name
155797139	CV1860175	single nucleotide variant	NM_006017.3(PROM1):c.631-2A>G	Retinal dystrophy [RCV002466816]	pathogenic	4	16024360	16024360	Human	2	name
156441829	CV1941479	single nucleotide variant	NM_006017.3(PROM1):c.630+1G>A	not provided [RCV003112162]	pathogenic	4	16025191	16025191	Human		name
155981501	CV2025257	single nucleotide variant	NM_006017.3(PROM1):c.784+9T>C	not provided [RCV002755348]	likely benign	4	16023317	16023317	Human		name
156031702	CV2117556	single nucleotide variant	NM_006017.3(PROM1):c.509+5G>A	not provided [RCV002923543]	uncertain significance	4	16033299	16033299	Human		name
156302213	CV2129558	deletion	NM_006017.3(PROM1):c.630+1del	not provided [RCV002962196]	pathogenic	4	16025191	16025191	Human		name
156277667	CV2137349	single nucleotide variant	NM_006017.3(PROM1):c.694+3G>T	not provided [RCV003009486]	uncertain significance	4	16024292	16024292	Human		name
156035600	CV2178504	single nucleotide variant	NM_006017.3(PROM1):c.303+1G>C	not provided [RCV003036364]	pathogenic	4	16035734	16035734	Human		name
156165458	CV2189975	single nucleotide variant	NM_006017.3(PROM1):c.221-9T>C	not provided [RCV003040860]	likely benign	4	16039010	16039010	Human		name
11345560	CV238022	single nucleotide variant	NM_006017.3(PROM1):c.694+4A>T	Retinal dystrophy [RCV000225443]	uncertain significance	4	16024291	16024291	Human	2	name
11351232	CV238023	single nucleotide variant	NM_006017.3(PROM1):c.694+1G>A	Retinal dystrophy [RCV000225617]	uncertain significance	4	16024294	16024294	Human	2	name
11551730	CV251367	single nucleotide variant	NM_006017.3(PROM1):c.303+6G>A	Cone-rod dystrophy 12 [RCV000329200]\|Retinal macular dystrophy type 2 [RCV000271856]\|Retinitis pigmentosa 41 [RCV001789282]\|Retinitis pigmentosa [RCV000321055]\|Stargardt disease 4 [RCV000359497]\|not provided [RCV000836050]\|not specified [RCV000253413]	benign	4	16035729	16035729	Human	6	name
11585299	CV292683	single nucleotide variant	NM_006017.3(PROM1):c.*1078A>G	Cone-rod dystrophy 12 [RCV000343278]\|Retinal macular dystrophy type 2 [RCV000399307]\|Retinitis pigmentosa [RCV000337375]\|Stargardt disease 4 [RCV000279953]\|not provided [RCV004716173]	benign	4	15968315	15968315	Human	5	name
11653498	CV292686	single nucleotide variant	NM_006017.3(PROM1):c.*1070A>G	Cone-rod dystrophy 12 [RCV000368634]\|Retinal macular dystrophy type 2 [RCV000407525]\|Retinitis pigmentosa [RCV000311499]\|Stargardt disease 4 [RCV000407588]	uncertain significance	4	15968323	15968323	Human	5	name
11584106	CV294050	single nucleotide variant	NM_006017.3(PROM1):c.*1052G>A	Cone-rod dystrophy 12 [RCV000328709]\|Retinal macular dystrophy type 2 [RCV000306689]\|Retinitis pigmentosa [RCV000363732]\|Stargardt disease 4 [RCV000271338]	benign\|likely benign\|uncertain significance	4	15968341	15968341	Human	5	name
11649252	CV297535	single nucleotide variant	NM_006017.3(PROM1):c.*1160A>G	Cone-rod dystrophy 12 [RCV000320454]\|Retinal macular dystrophy type 2 [RCV000377430]\|Retinitis pigmentosa [RCV000285990]\|Stargardt disease 4 [RCV000291140]	uncertain significance	4	15968233	15968233	Human	5	name
405264371	CV3187954	single nucleotide variant	NM_006017.3(PROM1):c.631-2A>C	Retinal dystrophy [RCV003890900]	uncertain significance	4	16024360	16024360	Human	2	name
405746361	CV3226396	single nucleotide variant	NM_006017.3(PROM1):c.509+1G>A	Retinitis pigmentosa 41 [RCV003991387]\|not provided [RCV005103174]	likely pathogenic	4	16033303	16033303	Human	1	name
596939352	CV3407788	single nucleotide variant	NM_006017.3(PROM1):c.694+6T>A	Retinal dystrophy [RCV004814248]	uncertain significance	4	16024289	16024289	Human	2	name
596939289	CV3407800	single nucleotide variant	NM_006017.3(PROM1):c.220+1G>T	Retinal dystrophy [RCV004814260]	pathogenic	4	16075686	16075686	Human	2	name
596939811	CV3408073	single nucleotide variant	NM_006017.3(PROM1):c.509+5G>C	Retinal dystrophy [RCV004814533]	uncertain significance	4	16033299	16033299	Human	2	name
597888448	CV3787744	single nucleotide variant	NM_006017.3(PROM1):c.630+6A>G	not provided [RCV005125311]	uncertain significance	4	16025186	16025186	Human		name
14698359	CV623925	single nucleotide variant	NM_006017.3(PROM1):c.630+2T>A	Retinal dystrophy [RCV001075335]\|Retinitis pigmentosa [RCV000787651]	likely pathogenic	4	16025190	16025190	Human	4	name
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	name
26907023	CV850974	single nucleotide variant	NM_006017.3(PROM1):c.303+1G>A	Retinal dystrophy [RCV001073433]\|not provided [RCV001066624]	pathogenic\|likely pathogenic	4	16035734	16035734	Human	2	name
26909788	CV857199	single nucleotide variant	NM_006017.3(PROM1):c.695-6A>G	Retinal dystrophy [RCV001073979]\|not provided [RCV001483536]	likely benign\|uncertain significance	4	16023421	16023421	Human	2	name
28876837	CV890363	single nucleotide variant	NM_006017.3(PROM1):c.*1149A>G	Cone-rod dystrophy 12 [RCV001148168]\|Retinal macular dystrophy type 2 [RCV001149730]\|Retinitis pigmentosa [RCV001148169]\|Stargardt disease 4 [RCV001148170]	uncertain significance	4	15968244	15968244	Human	5	name
28881773	CV890364	single nucleotide variant	NM_006017.3(PROM1):c.*1143A>C	Cone-rod dystrophy 12 [RCV001149732]\|Retinal macular dystrophy type 2 [RCV001149731]\|Retinitis pigmentosa [RCV001149733]\|Stargardt disease 4 [RCV001149734]	uncertain significance	4	15968250	15968250	Human	5	name
38496896	CV959717	single nucleotide variant	NM_006017.3(PROM1):c.303+1G>T	not provided [RCV001226730]	pathogenic\|likely pathogenic	4	16035734	16035734	Human		name
126738196	CV1000433	single nucleotide variant	NM_006017.3(PROM1):c.1683-8T>A	not provided [RCV001312039]	likely benign	4	15994079	15994079	Human		name
126752810	CV1005159	single nucleotide variant	NM_006017.3(PROM1):c.1454+4A>G	not provided [RCV001316380]	uncertain significance	4	16006534	16006534	Human		name
8642243	CV101227	single nucleotide variant	NM_006017.3(PROM1):c.1003-6T>G	not provided [RCV000081345]	uncertain significance	4	16016246	16016246	Human		name
8642245	CV101229	single nucleotide variant	NM_006017.3(PROM1):c.2281-6C>G	Cone-rod dystrophy 12 [RCV000346832]\|Retinal macular dystrophy type 2 [RCV000322412]\|Retinitis pigmentosa 41 [RCV001789128]\|Retinitis pigmentosa [RCV000377008]\|Stargardt disease 4 [RCV000291850]\|not provided [RCV000826342]\|not specified [RCV000081347]	benign	4	15984361	15984361	Human	6	name
8642248	CV101232	duplication	NM_006017.3(PROM1):c.2374-5dup	Cone-Rod Dystrophy, Dominant [RCV000304729]\|Macular dystrophy, retinal [RCV000310545]\|Retinitis Pigmentosa, Recessive [RCV000264787]\|Stargardt Disease, Dominant [RCV000359498]\|not provided [RCV000836759]\|not specified [RCV000081350]	benign\|likely benign	4	15980540	15980541	Human	4	name
8642249	CV101233	single nucleotide variant	NM_006017.3(PROM1):c.2374-6T>C	Cone-rod dystrophy 12 [RCV000281916]\|Retinal macular dystrophy type 2 [RCV000385618]\|Retinitis pigmentosa 41 [RCV001789129]\|Retinitis pigmentosa [RCV000276106]\|Stargardt disease 4 [RCV000331161]\|not provided [RCV000836688]\|not specified [RCV000081351]	benign	4	15980543	15980543	Human	6	name
126772297	CV1025733	single nucleotide variant	NM_006017.3(PROM1):c.1077+3A>T	not provided [RCV001345533]	uncertain significance	4	16016163	16016163	Human		name
127255087	CV1055418	single nucleotide variant	NM_006017.3(PROM1):c.2130+1G>C	not provided [RCV001379295]	likely pathogenic	4	15987662	15987662	Human		name
8646938	CV106455	single nucleotide variant	NM_006017.3(PROM1):c.1768-5C>T	Cone-rod dystrophy 12 [RCV000330367]\|Retinal macular dystrophy type 2 [RCV000375607]\|Retinitis pigmentosa [RCV000336295]\|Stargardt disease 4 [RCV000281202]\|not provided [RCV000086960]\|not specified [RCV000252795]	benign\|likely benign\|not provided	4	15992396	15992396	Human	5	name
127251149	CV1071516	single nucleotide variant	NM_006017.3(PROM1):c.2489+7A>G	PROM1-related disorder [RCV004734170]\|not provided [RCV001400017]	likely benign	4	15980415	15980415	Human		name , alternate_id
127259008	CV1071524	single nucleotide variant	NM_006017.3(PROM1):c.695-16G>C	not provided [RCV001401801]	likely benign	4	16023431	16023431	Human		name
127267192	CV1071526	single nucleotide variant	NM_006017.3(PROM1):c.303+15T>G	not provided [RCV001404030]	likely benign	4	16035720	16035720	Human		name
127252778	CV1093128	single nucleotide variant	NM_006017.3(PROM1):c.1302-4C>T	not provided [RCV001425887]	likely benign	4	16006694	16006694	Human		name
127281088	CV1093130	single nucleotide variant	NM_006017.3(PROM1):c.785-18C>T	not provided [RCV001446887]	likely benign	4	16018558	16018558	Human		name
127318257	CV1114670	single nucleotide variant	NM_006017.3(PROM1):c.2280+8G>A	not provided [RCV001466123]	likely benign	4	15985752	15985752	Human		name
127300706	CV1114680	single nucleotide variant	NM_006017.3(PROM1):c.630+19A>G	not provided [RCV001461157]	likely benign	4	16025173	16025173	Human		name
127333681	CV1135578	single nucleotide variant	NM_006017.3(PROM1):c.220+10G>A	not provided [RCV001490326]	likely benign	4	16075677	16075677	Human		name
127290670	CV1154701	deletion	NM_006017.3(PROM1):c.2281-4del	not provided [RCV001509943]	benign	4	15984359	15984359	Human		name
150501443	CV1256301	single nucleotide variant	NM_006017.3(PROM1):c.694+81G>A	not provided [RCV001676925]	benign	4	16024214	16024214	Human		name
150456264	CV1269054	duplication	NM_006017.3(PROM1):c.304-98dup	not provided [RCV001692878]	benign	4	16033586	16033587	Human		name
150447102	CV1270258	single nucleotide variant	NM_006017.3(PROM1):c.694+65T>C	not provided [RCV001691393]	benign	4	16024230	16024230	Human		name
150490485	CV1279755	single nucleotide variant	NM_006017.3(PROM1):c.510-48A>G	not provided [RCV001716482]	benign	4	16025360	16025360	Human		name
151874375	CV1380515	single nucleotide variant	NM_006017.3(PROM1):c.695-11T>G	not provided [RCV001998754]	uncertain significance	4	16023426	16023426	Human		name
151715419	CV1394533	single nucleotide variant	NM_006017.3(PROM1):c.1767+1G>A	not provided [RCV002039254]	likely pathogenic	4	15993986	15993986	Human		name
151797095	CV1401071	single nucleotide variant	NM_006017.3(PROM1):c.785-17G>A	not provided [RCV002011228]	likely benign\|uncertain significance	4	16018557	16018557	Human		name
151753759	CV1405369	single nucleotide variant	NM_006017.3(PROM1):c.2373+5G>T	not provided [RCV001927785]	uncertain significance	4	15984258	15984258	Human		name
151848924	CV1431103	single nucleotide variant	NM_006017.3(PROM1):c.221-20T>G	not provided [RCV001922504]	uncertain significance	4	16039021	16039021	Human		name
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	name
151869278	CV1510952	single nucleotide variant	NM_006017.3(PROM1):c.2280+1G>A	not provided [RCV001998124]	likely pathogenic	4	15985759	15985759	Human		name
152120525	CV1521302	single nucleotide variant	NM_006017.3(PROM1):c.2281-8C>T	not provided [RCV002135652]	likely benign	4	15984363	15984363	Human		name
152042366	CV1522149	single nucleotide variant	NM_006017.3(PROM1):c.630+10A>G	not provided [RCV002088130]	likely benign	4	16025182	16025182	Human		name
152127026	CV1533921	single nucleotide variant	NM_006017.3(PROM1):c.220+19G>A	not provided [RCV002136449]	likely benign	4	16075668	16075668	Human		name
152174229	CV1536184	single nucleotide variant	NM_006017.3(PROM1):c.509+10A>G	not provided [RCV002144368]	likely benign	4	16033294	16033294	Human		name
152035306	CV1552907	single nucleotide variant	NM_006017.3(PROM1):c.2489+9G>A	not provided [RCV002187393]	likely benign	4	15980413	15980413	Human		name
152163472	CV1561409	single nucleotide variant	NM_006017.3(PROM1):c.1302-6C>T	not provided [RCV002104236]	likely benign	4	16006696	16006696	Human		name
152093552	CV1561625	single nucleotide variant	NM_006017.3(PROM1):c.277-14G>T	not provided [RCV002194609]	likely benign	4	16035775	16035775	Human		name
152040484	CV1561718	single nucleotide variant	NM_006017.3(PROM1):c.695-10T>G	not provided [RCV002188184]	likely benign	4	16023425	16023425	Human		name
152047101	CV1580218	single nucleotide variant	NM_006017.3(PROM1):c.509+13T>C	not provided [RCV002166402]	likely benign	4	16033291	16033291	Human		name
152145468	CV1582668	single nucleotide variant	NM_006017.3(PROM1):c.2582+8A>C	not provided [RCV002201170]	likely benign	4	15979387	15979387	Human		name
152110272	CV1586142	single nucleotide variant	NM_006017.3(PROM1):c.277-14G>A	not provided [RCV002134390]	likely benign	4	16035775	16035775	Human		name
152043877	CV1588457	single nucleotide variant	NM_006017.3(PROM1):c.2212-4C>G	not provided [RCV002188608]	likely benign	4	15985832	15985832	Human		name
152165025	CV1595766	single nucleotide variant	NM_006017.3(PROM1):c.2490-7T>C	not provided [RCV002204154]	likely benign	4	15979911	15979911	Human		name
152109606	CV1604400	single nucleotide variant	NM_006017.3(PROM1):c.1578+7A>G	not provided [RCV002080067]	likely benign	4	16000489	16000489	Human		name
152132401	CV1633388	single nucleotide variant	NM_006017.3(PROM1):c.785-16G>T	not provided [RCV002137092]	likely benign	4	16018556	16018556	Human		name
152072167	CV1633909	single nucleotide variant	NM_006017.3(PROM1):c.510-20C>T	not provided [RCV002191927]	likely benign	4	16025332	16025332	Human		name
152149023	CV1642678	single nucleotide variant	NM_006017.3(PROM1):c.221-16G>A	not provided [RCV002179162]	likely benign	4	16039017	16039017	Human		name
152039601	CV1644432	single nucleotide variant	NM_006017.3(PROM1):c.276+11A>G	not provided [RCV002165487]	likely benign	4	16038935	16038935	Human		name
152080436	CV1650086	single nucleotide variant	NM_006017.3(PROM1):c.631-17G>A	not provided [RCV002092770]	likely benign	4	16024375	16024375	Human		name
152052624	CV1659138	single nucleotide variant	NM_006017.3(PROM1):c.784+14A>G	not provided [RCV002189598]	likely benign	4	16023312	16023312	Human		name
155264867	CV1704416	single nucleotide variant	NM_006017.3(PROM1):c.1301+1G>A	not provided [RCV002284632]	pathogenic\|likely pathogenic	4	16008948	16008948	Human		name
156363870	CV1934826	single nucleotide variant	NM_006017.3(PROM1):c.1911+1G>A	not provided [RCV002651822]	pathogenic	4	15992247	15992247	Human		name
156080026	CV1959848	single nucleotide variant	NM_006017.3(PROM1):c.2281-8C>A	not provided [RCV002569879]	uncertain significance	4	15984363	15984363	Human		name
10049253	CV196277	single nucleotide variant	NM_006017.3(PROM1):c.1077+6C>G	not provided [RCV000906134]\|not specified [RCV000180629]	likely benign	4	16016160	16016160	Human		name
156381233	CV1978736	single nucleotide variant	NM_006017.3(PROM1):c.2374-5C>T	not provided [RCV002603979]	likely benign	4	15980542	15980542	Human		name
155911190	CV1980174	single nucleotide variant	NM_006017.3(PROM1):c.1911+4T>C	not provided [RCV002614003]	uncertain significance	4	15992244	15992244	Human		name
156122421	CV1982821	single nucleotide variant	NM_006017.3(PROM1):c.631-13G>T	not provided [RCV002622995]	likely benign	4	16024371	16024371	Human		name
156325606	CV1985286	deletion	NM_006017.3(PROM1):c.1078-3del	not provided [RCV002649535]	uncertain significance	4	16013341	16013341	Human		name
156133956	CV1998751	single nucleotide variant	NM_006017.3(PROM1):c.1579-3T>C	not provided [RCV002663325]	uncertain significance	4	15998491	15998491	Human		name
156212147	CV2028464	single nucleotide variant	NM_006017.3(PROM1):c.2281-6C>T	not provided [RCV002711804]	likely benign	4	15984361	15984361	Human		name
156370778	CV2031083	single nucleotide variant	NM_006017.3(PROM1):c.1077+8T>G	PROM1-related disorder [RCV004545377]\|not provided [RCV002721498]	likely benign	4	16016158	16016158	Human		name , alternate_id
155923614	CV2034447	single nucleotide variant	NM_006017.3(PROM1):c.2076+7G>A	not provided [RCV002750829]	likely benign	4	15989725	15989725	Human		name
156372501	CV2059131	single nucleotide variant	NM_006017.3(PROM1):c.1683-5C>T	not provided [RCV002814411]	likely benign	4	15994076	15994076	Human		name
155936147	CV2075199	single nucleotide variant	NM_006017.3(PROM1):c.221-11T>C	not provided [RCV002839088]	likely benign	4	16039012	16039012	Human		name
156223698	CV2080989	duplication	NM_006017.3(PROM1):c.2281-4dup	not provided [RCV002853306]	benign	4	15984358	15984359	Human		name
156184664	CV2086493	single nucleotide variant	NM_006017.3(PROM1):c.2211+2T>C	not provided [RCV002851944]	pathogenic	4	15985955	15985955	Human		name
156058248	CV2089958	single nucleotide variant	NM_006017.3(PROM1):c.2513+4A>C	not provided [RCV002868017]	uncertain significance	4	15979877	15979877	Human		name
155937338	CV2146308	single nucleotide variant	NM_006017.3(PROM1):c.2489+1G>A	not provided [RCV003014033]	pathogenic	4	15980421	15980421	Human		name
156235683	CV2173347	single nucleotide variant	NM_006017.3(PROM1):c.695-10T>C	not provided [RCV003059475]	likely benign	4	16023425	16023425	Human		name
156213144	CV2176405	single nucleotide variant	NM_006017.3(PROM1):c.2374-4C>A	not provided [RCV003024885]	uncertain significance	4	15980541	15980541	Human		name
156064947	CV2179852	single nucleotide variant	NM_006017.3(PROM1):c.276+17G>T	not provided [RCV003053535]	likely benign	4	16038929	16038929	Human		name
156039646	CV2187822	single nucleotide variant	NM_006017.3(PROM1):c.303+14C>A	not provided [RCV003036517]	likely benign	4	16035721	16035721	Human		name
11345591	CV238019	single nucleotide variant	NM_006017.3(PROM1):c.1579-1G>C	Retinal dystrophy [RCV000225654]\|not provided [RCV001388263]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	15998489	15998489	Human	2	name
11351203	CV238020	single nucleotide variant	NM_006017.3(PROM1):c.1141+5G>C	Retinal dystrophy [RCV000225558]	uncertain significance	4	16013270	16013270	Human	2	name
11351177	CV238021	single nucleotide variant	NM_006017.3(PROM1):c.1141+1G>A	Retinal dystrophy [RCV000225496]	uncertain significance	4	16013274	16013274	Human	2	name
243053588	CV2405481	single nucleotide variant	NM_006017.3(PROM1):c.2212-1G>A	not provided [RCV003131266]	likely pathogenic	4	15985829	15985829	Human		name
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	name
405100705	CV2948052	single nucleotide variant	NM_006017.3(PROM1):c.630+16T>C	not provided [RCV003666067]	likely benign	4	16025176	16025176	Human		name
405114498	CV2956855	single nucleotide variant	NM_006017.3(PROM1):c.2130+3A>G	not provided [RCV003666751]	uncertain significance	4	15987660	15987660	Human		name
11582583	CV297488	single nucleotide variant	NM_006017.3(PROM1):c.2281-5C>G	Cone-rod dystrophy 12 [RCV000285875]\|Retinal macular dystrophy type 2 [RCV000260970]\|Retinitis pigmentosa [RCV000316222]\|Stargardt disease 4 [RCV000380196]\|not provided [RCV001247620]	uncertain significance	4	15984360	15984360	Human	5	name
11588111	CV297491	single nucleotide variant	NM_006017.3(PROM1):c.2211+7C>T	Cone-rod dystrophy 12 [RCV000391793]\|Retinal macular dystrophy type 2 [RCV000366791]\|Retinitis pigmentosa [RCV000300221]\|Stargardt disease 4 [RCV000312096]\|not provided [RCV001455863]	benign\|likely benign\|uncertain significance	4	15985950	15985950	Human	5	name
11588422	CV297494	single nucleotide variant	NM_006017.3(PROM1):c.1683-3C>T	Cone-rod dystrophy 12 [RCV000302494]\|Retinal macular dystrophy type 2 [RCV000398666]\|Retinitis pigmentosa [RCV000348076]\|Stargardt disease 4 [RCV000308385]\|not provided [RCV000886518]	benign\|likely benign\|uncertain significance	4	15994074	15994074	Human	5	name
11585010	CV297497	single nucleotide variant	NM_006017.3(PROM1):c.1579-6T>C	Cone-rod dystrophy 12 [RCV000369060]\|Retinal macular dystrophy type 2 [RCV000277946]\|Retinitis pigmentosa [RCV000314370]\|Stargardt disease 4 [RCV000363164]\|not provided [RCV000956181]	benign\|likely benign\|uncertain significance	4	15998494	15998494	Human	5	name
11582699	CV297508	single nucleotide variant	NM_006017.3(PROM1):c.1578+9G>C	Cone-rod dystrophy 12 [RCV000353950]\|Retinal macular dystrophy type 2 [RCV000261455]\|Retinitis pigmentosa [RCV000262727]\|Stargardt disease 4 [RCV000320164]\|not provided [RCV002057918]	likely benign\|uncertain significance	4	16000487	16000487	Human	5	name
11586688	CV297521	single nucleotide variant	NM_006017.3(PROM1):c.277-15C>T	Cone-rod dystrophy 12 [RCV000332880]\|Retinal macular dystrophy type 2 [RCV000381583]\|Retinitis pigmentosa [RCV000389815]\|Stargardt disease 4 [RCV000289511]\|not provided [RCV002057921]	likely benign\|uncertain significance	4	16035776	16035776	Human	5	name
11649451	CV297567	single nucleotide variant	NM_006017.3(PROM1):c.785-11T>G	Cone-Rod Dystrophy, Dominant [RCV000287210]\|Macular dystrophy, retinal [RCV000339818]\|Retinitis Pigmentosa, Recessive [RCV000309550]\|Stargardt Disease, Dominant [RCV000401786]	uncertain significance	4	16018551	16018551	Human	4	name
11585037	CV297616	single nucleotide variant	NM_006017.3(PROM1):c.276+15G>T	Cone-rod dystrophy 12 [RCV000278099]\|Retinal macular dystrophy type 2 [RCV000295776]\|Retinitis pigmentosa [RCV000394477]\|Stargardt disease 4 [RCV000350668]	likely benign\|uncertain significance	4	16038931	16038931	Human	5	name
405024465	CV3002757	single nucleotide variant	NM_006017.3(PROM1):c.2280+4A>T	not provided [RCV003694955]	uncertain significance	4	15985756	15985756	Human		name
405058803	CV3019840	single nucleotide variant	NM_006017.3(PROM1):c.1984-8T>C	not provided [RCV003697534]	likely benign	4	15989832	15989832	Human		name
405085157	CV3028290	single nucleotide variant	NM_006017.3(PROM1):c.695-13T>C	not provided [RCV003699330]	likely benign	4	16023428	16023428	Human		name
405066258	CV3140024	single nucleotide variant	NM_006017.3(PROM1):c.2374-8T>C	not provided [RCV003833179]	likely benign	4	15980545	15980545	Human		name
405048107	CV3150753	single nucleotide variant	NM_006017.3(PROM1):c.2281-6C>A	not provided [RCV003849356]	likely benign	4	15984361	15984361	Human		name
405143294	CV3155690	single nucleotide variant	NM_006017.3(PROM1):c.220+20A>C	not provided [RCV003855732]	likely benign	4	16075667	16075667	Human		name
405189023	CV3156675	single nucleotide variant	NM_006017.3(PROM1):c.1767+3A>G	not provided [RCV003859553]	uncertain significance	4	15993984	15993984	Human		name
405204126	CV3165500	single nucleotide variant	NM_006017.3(PROM1):c.277-19C>A	not provided [RCV003861166]	likely benign	4	16035780	16035780	Human		name
405292455	CV3192452	single nucleotide variant	NM_006017.3(PROM1):c.1767+6T>G	PROM1-related disorder [RCV004532068]	likely benign	4	15993981	15993981	Human		name , trait , alternate_id
407427633	CV3410776	single nucleotide variant	NM_006017.3(PROM1):c.1984-1G>A	Stargardt disease 4 [RCV004586423]	likely pathogenic	4	15989825	15989825	Human	1	name
597845992	CV3736403	single nucleotide variant	NM_006017.3(PROM1):c.2490-4A>G	not provided [RCV005059981]	likely benign	4	15979908	15979908	Human		name
597865073	CV3742274	single nucleotide variant	NM_006017.3(PROM1):c.2490-1G>A	not provided [RCV005067890]	likely pathogenic	4	15979905	15979905	Human		name
597965262	CV3751075	single nucleotide variant	NM_006017.3(PROM1):c.1984-6T>C	not provided [RCV005082637]	likely benign	4	15989830	15989830	Human		name
597920917	CV3808003	single nucleotide variant	NM_006017.3(PROM1):c.785-12G>C	not provided [RCV005155711]	likely benign	4	16018552	16018552	Human		name
597944866	CV3812836	single nucleotide variant	NM_006017.3(PROM1):c.2582+3A>C	not provided [RCV005159849]	uncertain significance	4	15979392	15979392	Human		name
597940593	CV3819085	single nucleotide variant	NM_006017.3(PROM1):c.2281-9C>A	not provided [RCV005158896]	uncertain significance	4	15984364	15984364	Human		name
597855204	CV3821773	single nucleotide variant	NM_006017.3(PROM1):c.510-18C>G	not provided [RCV005174251]	likely benign	4	16025330	16025330	Human		name
597865091	CV3823265	single nucleotide variant	NM_006017.3(PROM1):c.276+12T>C	not provided [RCV005175615]	likely benign	4	16038934	16038934	Human		name
13435202	CV431669	single nucleotide variant	NM_006017.3(PROM1):c.1002+5G>A	Cone-rod dystrophy 12 [RCV001145013]\|Cone-rod dystrophy [RCV005418178]\|Retinal dystrophy [RCV000505134]\|Retinal macular dystrophy type 2 [RCV001145014]\|Retinitis pigmentosa [RCV001145015]\|Stargardt disease 4 [RCV001146960]	likely pathogenic\|uncertain significance	4	16018318	16018318	Human	9	name
13446356	CV438272	single nucleotide variant	NM_006017.3(PROM1):c.1578+1G>A	Cone-rod dystrophy [RCV001199726]\|Retinal dystrophy [RCV003889918]\|not provided [RCV000513607]	pathogenic\|likely pathogenic	4	16000495	16000495	Human	5	name
13795475	CV551533	single nucleotide variant	NM_006017.3(PROM1):c.1983+5G>T	Usher syndrome [RCV000678601]\|not provided [RCV003565438]	uncertain significance	4	15991217	15991217	Human	1	name
13838140	CV589436	single nucleotide variant	NM_006017.3(PROM1):c.1077+1G>C	not provided [RCV000734753]	likely pathogenic	4	16016165	16016165	Human		name
14396380	CV612177	single nucleotide variant	NM_006017.3(PROM1):c.1301+2T>C	Cone-rod dystrophy 12 [RCV000761332]\|Cone-rod dystrophy [RCV001199727]\|Retinal dystrophy [RCV004817970]\|Retinitis pigmentosa 41 [RCV001592948]\|not provided [RCV001093373]	pathogenic\|likely pathogenic	4	16008947	16008947	Human	7	name
14397021	CV612676	single nucleotide variant	NM_006017.3(PROM1):c.2514-4A>G	not provided [RCV000762137]	conflicting interpretations of pathogenicity\|uncertain significance	4	15979467	15979467	Human		name
14698690	CV624036	single nucleotide variant	NM_006017.3(PROM1):c.1911+8G>A	Cone-rod dystrophy 12 [RCV001146547]\|Retinal macular dystrophy type 2 [RCV001149316]\|Retinitis pigmentosa [RCV000787863]\|Stargardt disease 4 [RCV001146548]\|not provided [RCV000895051]	benign\|likely benign\|uncertain significance	4	15992240	15992240	Human	5	name
14732609	CV660370	single nucleotide variant	NM_006017.3(PROM1):c.784+64T>C	not provided [RCV000836687]	benign	4	16023262	16023262	Human		name
15161425	CV759403	single nucleotide variant	NM_006017.3(PROM1):c.303+10T>G	not provided [RCV000925682]	likely benign	4	16035725	16035725	Human		name
15120637	CV787430	single nucleotide variant	NM_006017.3(PROM1):c.1768-4G>A	not provided [RCV000979322]	likely benign	4	15992395	15992395	Human		name
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	name , alternate_id
21068787	CV795552	single nucleotide variant	NM_006017.3(PROM1):c.1455-4C>A	not provided [RCV000998226]	uncertain significance	4	16000623	16000623	Human		name
21068791	CV795553	single nucleotide variant	NM_006017.3(PROM1):c.1142-1G>A	Cone-rod dystrophy 12 [RCV001352977]\|Retinal dystrophy [RCV001075075]\|Retinal macular dystrophy type 2 [RCV003987756]\|Stargardt disease 4 [RCV002497313]\|not provided [RCV000998228]	pathogenic\|likely pathogenic	4	16009109	16009109	Human	5	name
28892914	CV801363	single nucleotide variant	NM_006017.3(PROM1):c.2211+1G>A	Cone-rod dystrophy [RCV001199725]\|not provided [RCV001092553]	pathogenic\|likely pathogenic	4	15985956	15985956	Human	3	name
38464982	CV801364	single nucleotide variant	NM_006017.3(PROM1):c.1767+4A>G	Isolated macular dystrophy [RCV001199728]	pathogenic	4	15993983	15993983	Human		name
26918596	CV851596	single nucleotide variant	NM_006017.3(PROM1):c.1911+9C>T	not provided [RCV001043956]	likely benign\|uncertain significance	4	15992239	15992239	Human		name
26910818	CV857193	single nucleotide variant	NM_006017.3(PROM1):c.2490-2A>G	Retinal dystrophy [RCV001075507]\|Retinal macular dystrophy type 2 [RCV001724244]\|not provided [RCV001228903]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	15979906	15979906	Human	3	name
26910559	CV857194	single nucleotide variant	NM_006017.3(PROM1):c.2131-1G>A	Retinal dystrophy [RCV001075128]\|not provided [RCV003679034]	likely pathogenic	4	15986038	15986038	Human	2	name
26909846	CV857195	single nucleotide variant	NM_006017.3(PROM1):c.1768-4G>T	Retinal dystrophy [RCV001074047]\|not provided [RCV002067733]	likely benign\|uncertain significance	4	15992395	15992395	Human	2	name
26910969	CV857196	single nucleotide variant	NM_006017.3(PROM1):c.1682+1G>T	Retinal dystrophy [RCV001075727]	likely pathogenic	4	15998384	15998384	Human	2	name
26909761	CV857197	single nucleotide variant	NM_006017.3(PROM1):c.1579-2A>C	Retinal dystrophy [RCV001073944]\|not provided [RCV001244457]	pathogenic\|likely pathogenic	4	15998490	15998490	Human	2	name
26909385	CV857198	single nucleotide variant	NM_006017.3(PROM1):c.1002+6C>T	Retinal dystrophy [RCV001073374]	uncertain significance	4	16018317	16018317	Human	2	name
28870959	CV891764	single nucleotide variant	NM_006017.3(PROM1):c.2582+9A>C	Cone-rod dystrophy 12 [RCV001145615]\|Retinal macular dystrophy type 2 [RCV001145728]\|Retinitis pigmentosa [RCV001145616]\|Stargardt disease 4 [RCV001145614]\|not provided [RCV002557115]	likely benign\|uncertain significance	4	15979386	15979386	Human	5	name
28877889	CV891765	single nucleotide variant	NM_006017.3(PROM1):c.2489+8T>C	Cone-rod dystrophy 12 [RCV001150065]\|Retinal macular dystrophy type 2 [RCV001148499]\|Retinitis pigmentosa [RCV001148497]\|Stargardt disease 4 [RCV001148498]	uncertain significance	4	15980414	15980414	Human	5	name
38458601	CV939962	deletion	NM_006017.3(PROM1):c.2130+2del	Autosomal recessive retinitis pigmentosa [RCV001257790]\|not provided [RCV001211454]	pathogenic\|likely pathogenic	4	15987661	15987661	Human	1	name
38482795	CV939963	single nucleotide variant	NM_006017.3(PROM1):c.1455-1G>A	not provided [RCV001207406]	likely pathogenic	4	16000620	16000620	Human		name
38477209	CV939964	single nucleotide variant	NM_006017.3(PROM1):c.1301+3G>A	PROM1-related disorder [RCV004538442]\|not provided [RCV001204990]	likely benign\|uncertain significance	4	16008946	16008946	Human		name , alternate_id
38461417	CV959716	deletion	NM_006017.3(PROM1):c.2281-3del	not provided [RCV001229533]	uncertain significance	4	15984358	15984358	Human		name
38493084	CV960531	single nucleotide variant	NM_006017.3(PROM1):c.2281-2A>G	Retinitis pigmentosa 41 [RCV003483805]\|not provided [RCV001240495]	likely pathogenic\|not provided	4	15984357	15984357	Human	1	name
38456430	CV960532	single nucleotide variant	NM_006017.3(PROM1):c.2211+6C>T	not provided [RCV001245772]	uncertain significance	4	15985951	15985951	Human		name
38493081	CV960533	single nucleotide variant	NM_006017.3(PROM1):c.1682+3A>G	Retinitis pigmentosa 41 [RCV003483804]\|not provided [RCV001240494]	pathogenic\|not provided	4	15998382	15998382	Human	1	name
126756711	CV989994	single nucleotide variant	NM_006017.3(PROM1):c.2513+3A>T	not provided [RCV001298667]	uncertain significance	4	15979878	15979878	Human		name
127262598	CV1071520	single nucleotide variant	NM_006017.3(PROM1):c.1683-14G>A	not provided [RCV001402686]	likely benign	4	15994085	15994085	Human		name
127230497	CV1071523	single nucleotide variant	NM_006017.3(PROM1):c.1002+20C>T	not provided [RCV001412483]	likely benign	4	16018303	16018303	Human		name
127242240	CV1093124	single nucleotide variant	NM_006017.3(PROM1):c.2514-12T>C	not provided [RCV001423698]	likely benign	4	15979475	15979475	Human		name
127302282	CV1114668	single nucleotide variant	NM_006017.3(PROM1):c.2513+19A>G	not provided [RCV001461583]	likely benign	4	15979862	15979862	Human		name
127296261	CV1135569	single nucleotide variant	NM_006017.3(PROM1):c.2130+15T>C	not provided [RCV001497430]	likely benign	4	15987648	15987648	Human		name
127322660	CV1135570	single nucleotide variant	NM_006017.3(PROM1):c.1984-10C>G	not provided [RCV001484996]	likely benign	4	15989834	15989834	Human		name
127288351	CV1135571	deletion	NM_006017.3(PROM1):c.1579-16del	not provided [RCV001495185]	likely benign	4	15998504	15998504	Human		name
127335114	CV1135574	single nucleotide variant	NM_006017.3(PROM1):c.1077+17A>T	not provided [RCV001491284]	likely benign	4	16016149	16016149	Human		name
127298983	CV1154699	single nucleotide variant	NM_006017.3(PROM1):c.2374-16G>A	not provided [RCV001513506]	benign	4	15980553	15980553	Human		name
127312987	CV1154702	single nucleotide variant	NM_006017.3(PROM1):c.2281-23T>G	not provided [RCV001519115]	benign	4	15984378	15984378	Human		name
127315137	CV1154703	single nucleotide variant	NM_006017.3(PROM1):c.2131-17G>C	not provided [RCV001519874]	benign	4	15986054	15986054	Human		name
127298987	CV1154704	single nucleotide variant	NM_006017.3(PROM1):c.1142-17G>T	not provided [RCV001513507]	benign	4	16009125	16009125	Human		name
150406791	CV1176446	single nucleotide variant	NM_006017.3(PROM1):c.2211+30C>T	not provided [RCV001545372]	likely benign	4	15985927	15985927	Human		name
150433946	CV1204225	single nucleotide variant	NM_006017.3(PROM1):c.2131-75T>G	not provided [RCV001581974]	likely benign	4	15986112	15986112	Human		name
150430745	CV1231032	single nucleotide variant	NM_006017.3(PROM1):c.1983+43T>C	not provided [RCV001641581]	benign	4	15991179	15991179	Human		name
150431071	CV1235325	single nucleotide variant	NM_006017.3(PROM1):c.1455-46A>G	not provided [RCV001641695]	benign	4	16000665	16000665	Human		name
150441807	CV1246794	single nucleotide variant	NM_006017.3(PROM1):c.2280+35G>A	not provided [RCV001666448]	benign	4	15985725	15985725	Human		name
150510050	CV1248487	single nucleotide variant	NM_006017.3(PROM1):c.1983+62T>G	not provided [RCV001659556]	benign	4	15991160	15991160	Human		name
150489618	CV1250888	single nucleotide variant	NM_006017.3(PROM1):c.1767+92G>A	not provided [RCV001674555]	benign	4	15993895	15993895	Human		name
150486327	CV1251342	single nucleotide variant	NM_006017.3(PROM1):c.1003-35A>C	Cone-rod dystrophy 12 [RCV001789502]\|Retinal macular dystrophy type 2 [RCV001789501]\|Retinitis pigmentosa 41 [RCV001789499]\|Stargardt disease 4 [RCV001789500]\|not provided [RCV001674013]	benign	4	16016275	16016275	Human	4	name
150483487	CV1261794	single nucleotide variant	NM_006017.3(PROM1):c.2280+49T>C	not provided [RCV001686398]	benign	4	15985711	15985711	Human		name
150485266	CV1262059	single nucleotide variant	NM_006017.3(PROM1):c.2076+80C>T	not provided [RCV001686750]	benign	4	15989652	15989652	Human		name
150458997	CV1263944	single nucleotide variant	NM_006017.3(PROM1):c.1003-97T>C	not provided [RCV001681858]	benign	4	16016337	16016337	Human		name
150448723	CV1275580	single nucleotide variant	NM_006017.3(PROM1):c.2373+84T>G	not provided [RCV001708035]	benign	4	15984179	15984179	Human		name
150464696	CV1276454	single nucleotide variant	NM_006017.3(PROM1):c.1455-75G>A	not provided [RCV001710400]	benign	4	16000694	16000694	Human		name
150446522	CV1278327	deletion	NM_006017.3(PROM1):c.2130+95del	not provided [RCV001707470]	benign	4	15987568	15987568	Human		name
150457998	CV1278706	single nucleotide variant	NM_006017.3(PROM1):c.2582+43C>T	Cone-rod dystrophy 12 [RCV001789547]\|Retinal macular dystrophy type 2 [RCV001789546]\|Retinitis pigmentosa 41 [RCV001789544]\|Stargardt disease 4 [RCV001789545]\|not provided [RCV001709322]	benign	4	15979352	15979352	Human	4	name
150531977	CV1291733	deletion	NM_006017.3(PROM1):c.2490-84del	not provided [RCV001733453]	benign	4	15979988	15979988	Human		name
152175013	CV1520612	single nucleotide variant	NM_006017.3(PROM1):c.1683-18C>T	not provided [RCV002184706]	likely benign	4	15994089	15994089	Human		name
152120655	CV1521322	single nucleotide variant	NM_006017.3(PROM1):c.1301+11C>T	not provided [RCV002135666]	likely benign	4	16008938	16008938	Human		name
152121305	CV1521427	single nucleotide variant	NM_006017.3(PROM1):c.2374-10T>G	not provided [RCV002135743]	likely benign	4	15980547	15980547	Human		name
152053803	CV1523777	single nucleotide variant	NM_006017.3(PROM1):c.2281-10A>G	not provided [RCV002127537]	likely benign	4	15984365	15984365	Human		name
152084123	CV1525438	single nucleotide variant	NM_006017.3(PROM1):c.1983+17C>T	not provided [RCV002131208]	likely benign	4	15991205	15991205	Human		name
152059377	CV1536085	single nucleotide variant	NM_006017.3(PROM1):c.2076+17T>C	not provided [RCV002146595]	likely benign	4	15989715	15989715	Human		name
152063564	CV1542472	single nucleotide variant	NM_006017.3(PROM1):c.2374-13T>A	not provided [RCV002209002]	likely benign	4	15980550	15980550	Human		name
152048437	CV1549809	single nucleotide variant	NM_006017.3(PROM1):c.2212-16T>G	not provided [RCV002166552]	likely benign	4	15985844	15985844	Human		name
152060599	CV1557341	single nucleotide variant	NM_006017.3(PROM1):c.1003-11T>C	not provided [RCV002146727]	likely benign	4	16016251	16016251	Human		name
152105087	CV1559857	single nucleotide variant	NM_006017.3(PROM1):c.1768-16C>T	not provided [RCV002133744]	likely benign	4	15992407	15992407	Human		name
152086007	CV1567601	single nucleotide variant	NM_006017.3(PROM1):c.1984-14T>C	not provided [RCV002171177]	likely benign	4	15989838	15989838	Human		name
152051256	CV1569228	single nucleotide variant	NM_006017.3(PROM1):c.2280+19A>G	not provided [RCV002207549]	likely benign	4	15985741	15985741	Human		name
152141095	CV1571416	single nucleotide variant	NM_006017.3(PROM1):c.2489+19A>G	not provided [RCV002138186]	likely benign	4	15980403	15980403	Human		name
152127230	CV1572058	single nucleotide variant	NM_006017.3(PROM1):c.2490-11G>A	not provided [RCV002217578]	likely benign	4	15979915	15979915	Human		name
152106336	CV1572687	single nucleotide variant	NM_006017.3(PROM1):c.2489+13G>A	not provided [RCV002152445]	likely benign	4	15980409	15980409	Human		name
152110387	CV1586200	single nucleotide variant	NM_006017.3(PROM1):c.1767+18T>C	not provided [RCV002134404]	likely benign	4	15993969	15993969	Human		name
152067392	CV1588857	single nucleotide variant	NM_006017.3(PROM1):c.2281-16G>A	not provided [RCV002209530]	likely benign	4	15984371	15984371	Human		name
152087850	CV1590133	duplication	NM_006017.3(PROM1):c.2130+15dup	not provided [RCV002193880]	likely benign	4	15987647	15987648	Human		name
152174606	CV1602155	single nucleotide variant	NM_006017.3(PROM1):c.1578+13T>C	not provided [RCV002144494]	likely benign	4	16000483	16000483	Human		name
152129595	CV1607798	single nucleotide variant	NM_006017.3(PROM1):c.2077-19A>G	not provided [RCV002176622]	likely benign	4	15987735	15987735	Human		name
152063272	CV1612051	single nucleotide variant	NM_006017.3(PROM1):c.1983+18G>A	not provided [RCV002128609]	likely benign	4	15991204	15991204	Human		name
152079791	CV1612594	single nucleotide variant	NM_006017.3(PROM1):c.1078-16T>C	not provided [RCV002170390]	likely benign	4	16013354	16013354	Human		name
152134781	CV1613445	single nucleotide variant	NM_006017.3(PROM1):c.2490-18C>T	not provided [RCV002155996]	likely benign	4	15979922	15979922	Human		name
152027108	CV1636023	single nucleotide variant	NM_006017.3(PROM1):c.2076+12C>T	not provided [RCV002085023]	likely benign	4	15989720	15989720	Human		name
152091975	CV1647106	single nucleotide variant	NM_006017.3(PROM1):c.2076+16G>T	not provided [RCV002150709]	likely benign	4	15989716	15989716	Human		name
152133813	CV1652041	single nucleotide variant	NM_006017.3(PROM1):c.2131-18T>C	not provided [RCV002199676]	likely benign	4	15986055	15986055	Human		name
152116109	CV1653718	single nucleotide variant	NM_006017.3(PROM1):c.2281-22C>G	not provided [RCV002153674]	likely benign	4	15984377	15984377	Human		name
152034996	CV1670073	single nucleotide variant	NM_006017.3(PROM1):c.1077+15A>G	not provided [RCV002223607]	uncertain significance	4	16016151	16016151	Human		name
156077441	CV1952727	single nucleotide variant	NM_006017.3(PROM1):c.2489+20C>T	not provided [RCV002569798]	likely benign	4	15980402	15980402	Human		name
156410933	CV1966725	single nucleotide variant	NM_006017.3(PROM1):c.1984-20G>C	not provided [RCV002608110]	likely benign	4	15989844	15989844	Human		name
156416404	CV1976575	single nucleotide variant	NM_006017.3(PROM1):c.1767+14G>T	not provided [RCV002589673]	likely benign	4	15993973	15993973	Human		name
156161273	CV1977809	single nucleotide variant	NM_006017.3(PROM1):c.1767+14G>A	not provided [RCV002594476]	likely benign	4	15993973	15993973	Human		name
156341873	CV1984968	single nucleotide variant	NM_006017.3(PROM1):c.2490-17T>C	not provided [RCV002631470]	likely benign	4	15979921	15979921	Human		name
156172326	CV2003837	single nucleotide variant	NM_006017.3(PROM1):c.1682+19T>C	not provided [RCV002642756]	likely benign	4	15998366	15998366	Human		name
156288687	CV2058323	single nucleotide variant	NM_006017.3(PROM1):c.1578+18C>T	not provided [RCV002833108]	likely benign	4	16000478	16000478	Human		name
156020462	CV2081430	single nucleotide variant	NM_006017.3(PROM1):c.1454+10T>C	not provided [RCV002866580]	likely benign	4	16006528	16006528	Human		name
156164172	CV2097024	single nucleotide variant	NM_006017.3(PROM1):c.2077-15T>C	not provided [RCV002872771]	uncertain significance	4	15987731	15987731	Human		name
156269402	CV2097352	single nucleotide variant	NM_006017.3(PROM1):c.2490-20C>T	not provided [RCV002877552]	likely benign	4	15979924	15979924	Human		name
156385470	CV2125472	single nucleotide variant	NM_006017.3(PROM1):c.1767+17A>T	not provided [RCV002943452]	likely benign	4	15993970	15993970	Human		name
156205860	CV2131238	single nucleotide variant	NM_006017.3(PROM1):c.1455-20A>G	not provided [RCV002985394]	likely benign	4	16000639	16000639	Human		name
155920161	CV2148329	single nucleotide variant	NM_006017.3(PROM1):c.2076+14A>G	not provided [RCV003013146]	likely benign	4	15989718	15989718	Human		name
155909003	CV2156782	single nucleotide variant	NM_006017.3(PROM1):c.1002+13G>C	not provided [RCV003012114]	likely benign	4	16018310	16018310	Human		name
156306067	CV2157386	single nucleotide variant	NM_006017.3(PROM1):c.2513+11T>A	not provided [RCV003028328]	likely benign	4	15979870	15979870	Human		name
11544700	CV251364	single nucleotide variant	NM_006017.3(PROM1):c.1983+14G>A	Cone-rod dystrophy 12 [RCV000324663]\|Retinal macular dystrophy type 2 [RCV000355042]\|Retinitis pigmentosa [RCV000360716]\|Stargardt disease 4 [RCV000260205]\|not provided [RCV001511591]\|not specified [RCV000244142]	benign\|likely benign	4	15991208	15991208	Human	5	name
405166826	CV2857644	single nucleotide variant	NM_006017.3(PROM1):c.1983+14G>C	not provided [RCV003541855]	likely benign	4	15991208	15991208	Human		name
11647854	CV294070	single nucleotide variant	NM_006017.3(PROM1):c.2373+13C>G	Cone-rod dystrophy 12 [RCV000373139]\|Retinal macular dystrophy type 2 [RCV000342928]\|Retinitis pigmentosa [RCV000278589]\|Stargardt disease 4 [RCV000318449]	uncertain significance	4	15984250	15984250	Human	5	name
405133339	CV2959272	single nucleotide variant	NM_006017.3(PROM1):c.1078-20T>C	not provided [RCV003668533]	likely benign	4	16013358	16013358	Human		name
11634770	CV297540	duplication	NM_006017.3(PROM1):c.2374-14dup	Cone-Rod Dystrophy, Dominant [RCV000325557]\|Macular dystrophy, retinal [RCV000365045]\|Retinal dystrophy [RCV004816592]\|Retinitis Pigmentosa, Recessive [RCV000389475]\|Stargardt Disease, Dominant [RCV000270462]\|not provided [RCV000948275]	benign\|uncertain significance	4	15980542	15980543	Human	6	name
11584305	CV297553	single nucleotide variant	NM_006017.3(PROM1):c.1911+14G>A	Cone-rod dystrophy 12 [RCV000357535]\|Retinal macular dystrophy type 2 [RCV000309053]\|Retinitis pigmentosa [RCV000363702]\|Stargardt disease 4 [RCV000272696]\|not provided [RCV001513432]	benign\|likely benign\|uncertain significance	4	15992234	15992234	Human	5	name
405154130	CV3027974	single nucleotide variant	NM_006017.3(PROM1):c.1002+12T>C	not provided [RCV003703495]	likely benign	4	16018311	16018311	Human		name
405113940	CV3115371	duplication	NM_006017.3(PROM1):c.2583-10dup	not provided [RCV003814053]	benign	4	15971091	15971092	Human		name
405005720	CV3120910	duplication	NM_006017.3(PROM1):c.2490-12dup	not provided [RCV003828513]	benign	4	15979915	15979916	Human		name
405120724	CV3131513	single nucleotide variant	NM_006017.3(PROM1):c.2076+13G>A	not provided [RCV003837377]	likely benign	4	15989719	15989719	Human		name
404987681	CV3135574	single nucleotide variant	NM_006017.3(PROM1):c.2582+16G>A	not provided [RCV003826869]	likely benign	4	15979379	15979379	Human		name
405221700	CV3158162	single nucleotide variant	NM_006017.3(PROM1):c.1911+18A>G	not provided [RCV003863657]	likely benign	4	15992230	15992230	Human		name
405208701	CV3162496	single nucleotide variant	NM_006017.3(PROM1):c.1142-14A>G	not provided [RCV003861795]	likely benign	4	16009122	16009122	Human		name
405226199	CV3169376	single nucleotide variant	NM_006017.3(PROM1):c.2489+18C>T	not provided [RCV003864400]	likely benign	4	15980404	15980404	Human		name
597831757	CV3740079	single nucleotide variant	NM_006017.3(PROM1):c.2077-16A>G	not provided [RCV005062778]	likely benign	4	15987732	15987732	Human		name
597880232	CV3744772	single nucleotide variant	NM_006017.3(PROM1):c.1142-17G>A	not provided [RCV005069797]	likely benign	4	16009125	16009125	Human		name
597898689	CV3826662	single nucleotide variant	NM_006017.3(PROM1):c.2374-15A>T	not provided [RCV005180795]	likely benign	4	15980552	15980552	Human		name
597857571	CV3850092	single nucleotide variant	NM_006017.3(PROM1):c.1455-17T>A	not provided [RCV005195424]	likely benign	4	16000636	16000636	Human		name
14732681	CV660207	single nucleotide variant	NM_006017.3(PROM1):c.1578+69A>G	not provided [RCV000836736]	benign	4	16000427	16000427	Human		name
14732682	CV660248	single nucleotide variant	NM_006017.3(PROM1):c.2130+95G>A	not provided [RCV000836737]	benign	4	15987568	15987568	Human		name
14732685	CV660365	single nucleotide variant	NM_006017.3(PROM1):c.2281-64C>T	not provided [RCV000836738]	benign	4	15984419	15984419	Human		name
28875259	CV891766	single nucleotide variant	NM_006017.3(PROM1):c.1579-12A>C	Cone-rod dystrophy 12 [RCV001147571]\|Retinal macular dystrophy type 2 [RCV001147573]\|Retinitis pigmentosa [RCV001147572]\|Stargardt disease 4 [RCV001147574]\|not provided [RCV002070791]	likely benign\|uncertain significance	4	15998500	15998500	Human	5	name
28869400	CV891767	single nucleotide variant	NM_006017.3(PROM1):c.1301+11C>A	Cone-rod dystrophy 12 [RCV001151006]\|Retinal macular dystrophy type 2 [RCV001151004]\|Retinitis pigmentosa [RCV001144910]\|Stargardt disease 4 [RCV001151005]	likely benign\|uncertain significance	4	16008938	16008938	Human	5	name
28869402	CV891768	single nucleotide variant	NM_006017.3(PROM1):c.1301+10T>A	Cone-rod dystrophy 12 [RCV001144914]\|Retinal macular dystrophy type 2 [RCV001144912]\|Retinitis pigmentosa [RCV001144911]\|Stargardt disease 4 [RCV001144913]	likely benign\|uncertain significance	4	16008939	16008939	Human	5	name
10058931	CV188197	single nucleotide variant	NM_006017.3(PROM1):c.2077-521A>G	Cone-rod dystrophy 2 [RCV000186496]\|Retinal dystrophy [RCV001074060]\|not provided [RCV005089850]	pathogenic\|likely pathogenic\|uncertain significance	4	15988237	15988237	Human	4	name
405244174	CV2971916	microsatellite	NM_006017.3(PROM1):c.510-20CT[2]	not provided [RCV003684776]	likely benign	4	16025327	16025328	Human		name
405187136	CV3040453	single nucleotide variant	NM_006017.3(PROM1):c.2077-521A>T	not provided [RCV003706010]	likely benign	4	15988237	15988237	Human		name
151843404	CV1475683	duplication	NM_006017.3(PROM1):c.221-1_223dup	not provided [RCV001995032]	uncertain significance	4	16038998	16038999	Human		name
11544956	CV251365	microsatellite	NM_006017.3(PROM1):c.1454+15CT[2]	not provided [RCV001519118]\|not specified [RCV000244489]	benign	4	16006518	16006519	Human		name
8642250	CV101234	indel	NM_006017.3(PROM1):c.2374-6delinsCC	not provided [RCV000081352]	uncertain significance	4	15980543	15980543	Human		name
151840569	CV1342080	single nucleotide variant	NM_006017.3(PROM1):c.9C>T (p.Leu3=)	PROM1-related disorder [RCV004538693]\|not provided [RCV001956699]	likely benign	4	16075898	16075898	Human		name , alternate_id
152116986	CV1566391	single nucleotide variant	NM_006017.3(PROM1):c.6C>G (p.Ala2=)	not provided [RCV002153779]	likely benign	4	16075901	16075901	Human		name
597912556	CV3817298	deletion	NM_006017.3(PROM1):c.510-9_510-8del	not provided [RCV005154500]	likely benign	4	16025320	16025321	Human		name
127317985	CV1135577	deletion	NM_006017.3(PROM1):c.509+9_509+10del	not provided [RCV001503536]	likely benign	4	16033294	16033295	Human		name
127319167	CV1135579	single nucleotide variant	NM_006017.3(PROM1):c.18C>A (p.Gly6=)	not provided [RCV001503940]	likely benign	4	16075889	16075889	Human		name
152037176	CV1521892	single nucleotide variant	NM_006017.3(PROM1):c.15C>G (p.Leu5=)	not provided [RCV002187702]	likely benign	4	16075892	16075892	Human		name
156320719	CV1968542	microsatellite	NM_006017.3(PROM1):c.304-12_304-9del	not provided [RCV002630324]	likely benign	4	16033518	16033521	Human		name
155922275	CV1991391	single nucleotide variant	NM_006017.3(PROM1):c.25T>C (p.Leu9=)	not provided [RCV002614614]	likely benign	4	16075882	16075882	Human		name
156348406	CV2052071	single nucleotide variant	NM_006017.3(PROM1):c.22C>T (p.Leu8=)	not provided [RCV002811599]	likely benign	4	16075885	16075885	Human		name
156017601	CV2121497	deletion	NM_006017.3(PROM1):c.631-10_631-8del	not provided [RCV002948614]	uncertain significance	4	16024366	16024368	Human		name
11548865	CV251369	single nucleotide variant	NM_006017.3(PROM1):c.15C>T (p.Leu5=)	Cone-rod dystrophy 12 [RCV000312520]\|Retinal macular dystrophy type 2 [RCV000367292]\|Retinitis pigmentosa [RCV000398887]\|Stargardt disease 4 [RCV000277416]\|not provided [RCV001512766]\|not specified [RCV000249658]	benign\|likely benign	4	16075892	16075892	Human	5	name
596944221	CV3408760	deletion	NM_006017.3(PROM1):c.2131-99_2356del	Retinal dystrophy [RCV004817409]	pathogenic	4	15984280	15986136	Human	2	name
150429121	CV1186720	duplication	NM_006017.3(PROM1):c.304-98_304-94dup	not provided [RCV001563184]	likely benign	4	16033586	16033587	Human		name
150510372	CV1211614	duplication	NM_006017.3(PROM1):c.304-98_304-97dup	not provided [RCV001597406]	benign	4	16033586	16033587	Human		name
150440861	CV1220227	duplication	NM_006017.3(PROM1):c.304-98_304-95dup	not provided [RCV001610210]	benign	4	16033586	16033587	Human		name
152066951	CV1636734	deletion	NM_006017.3(PROM1):c.694+20_694+21del	not provided [RCV002110918]	likely benign	4	16024274	16024275	Human		name
156163522	CV1934828	single nucleotide variant	NM_006017.3(PROM1):c.3G>A (p.Met1Ile)	not provided [RCV002664339]	pathogenic\|likely pathogenic\|uncertain significance	4	16075904	16075904	Human		name
156350660	CV1985575	single nucleotide variant	NM_006017.3(PROM1):c.42C>T (p.Cys14=)	not provided [RCV002631956]	likely benign	4	16075865	16075865	Human		name
405197023	CV2975941	deletion	NM_006017.3(PROM1):c.1003-126_1008del	not provided [RCV003677666]	likely pathogenic	4	16016235	16016366	Human		name
596944092	CV3408671	deletion	NM_006017.3(PROM1):c.2131-100_2354del	Retinal dystrophy [RCV004817320]	pathogenic	4	15984282	15986137	Human	2	name
26894953	CV828941	single nucleotide variant	NM_006017.3(PROM1):c.1A>G (p.Met1Val)	not provided [RCV001063747]	pathogenic\|likely pathogenic\|uncertain significance	4	16075906	16075906	Human		name
8631065	CV86221	single nucleotide variant	NM_006017.2(PROM1):c.51C>T (p.Ser17=)	Malignant melanoma [RCV000066312]	not provided	4	16075856	16075856	Human		name
8642246	CV101230	single nucleotide variant	NM_006017.3(PROM1):c.228G>A (p.Leu76=)	Cone-rod dystrophy 12 [RCV000362013]\|Retinal dystrophy [RCV003888439]\|Retinal macular dystrophy type 2 [RCV000337715]\|Retinitis pigmentosa [RCV000399220]\|Stargardt disease 4 [RCV000302705]\|not provided [RCV001518003]\|not specified [RCV000081348]	benign\|likely benign	4	16038994	16038994	Human	7	name
127266709	CV1071527	single nucleotide variant	NM_006017.3(PROM1):c.108G>A (p.Leu36=)	not provided [RCV001403930]	likely benign	4	16075799	16075799	Human		name
151846066	CV1495000	single nucleotide variant	NM_006017.3(PROM1):c.10G>A (p.Val4Ile)	not provided [RCV001978293]	uncertain significance	4	16075897	16075897	Human		name
152037812	CV1530307	single nucleotide variant	NM_006017.3(PROM1):c.111T>A (p.Pro37=)	not provided [RCV002087503]	likely benign	4	16075796	16075796	Human		name
152174897	CV1536148	single nucleotide variant	NM_006017.3(PROM1):c.279A>G (p.Pro93=)	not provided [RCV002163307]	likely benign	4	16035759	16035759	Human		name
152062712	CV1613038	single nucleotide variant	NM_006017.3(PROM1):c.177G>C (p.Val59=)	not provided [RCV002073870]	likely benign	4	16075730	16075730	Human		name
152143647	CV1651524	single nucleotide variant	NM_006017.3(PROM1):c.165C>T (p.Leu55=)	not provided [RCV002138491]	likely benign	4	16075742	16075742	Human		name
156383165	CV1886512	single nucleotide variant	NM_006017.3(PROM1):c.216A>G (p.Pro72=)	not provided [RCV003093461]	likely benign	4	16075691	16075691	Human		name
156007309	CV1981231	single nucleotide variant	NM_006017.3(PROM1):c.20C>T (p.Ser7Phe)	not provided [RCV002618728]	uncertain significance	4	16075887	16075887	Human		name
156397094	CV2012511	single nucleotide variant	NM_006017.3(PROM1):c.204G>A (p.Pro68=)	not provided [RCV002725664]	likely benign	4	16075703	16075703	Human		name
11551161	CV251368	single nucleotide variant	NM_006017.3(PROM1):c.129C>T (p.Thr43=)	Cone-rod dystrophy 12 [RCV000388410]\|Retinal macular dystrophy type 2 [RCV000375651]\|Retinitis pigmentosa [RCV000279950]\|Stargardt disease 4 [RCV000316444]\|not provided [RCV001509696]\|not specified [RCV000252686]	benign\|likely benign	4	16075778	16075778	Human	5	name
401923249	CV2822450	single nucleotide variant	NM_006017.3(PROM1):c.102T>C (p.Tyr34=)	not provided [RCV003434982]	likely benign	4	16075805	16075805	Human		name
11648228	CV294080	single nucleotide variant	NM_006017.3(PROM1):c.105A>G (p.Glu35=)	Cone-rod dystrophy 12 [RCV000340399]\|Retinal macular dystrophy type 2 [RCV000280677]\|Retinitis pigmentosa [RCV000398030]\|Stargardt disease 4 [RCV000286424]	uncertain significance	4	16075802	16075802	Human	5	name
405222408	CV3154844	single nucleotide variant	NM_006017.3(PROM1):c.16G>A (p.Gly6Ser)	not provided [RCV003847339]	uncertain significance	4	16075891	16075891	Human		name
617153461	CV3703432	duplication	NM_006017.3(PROM1):c.45dup (p.Asn16fs)	Cone-rod dystrophy [RCV005419827]	pathogenic	4	16075861	16075862	Human	3	name
597887049	CV3787503	single nucleotide variant	NM_006017.3(PROM1):c.150A>T (p.Gly50=)	not provided [RCV005125069]	likely benign	4	16075757	16075757	Human		name
38462017	CV918886	single nucleotide variant	NM_006017.3(PROM1):c.11T>C (p.Val4Ala)	Cone-rod dystrophy 12 [RCV001198097]	likely benign	4	16075896	16075896	Human	1	name
127277891	CV1071525	single nucleotide variant	NM_006017.3(PROM1):c.477A>G (p.Ala159=)	PROM1-related disorder [RCV004531242]\|not provided [RCV001408111]	likely benign	4	16033336	16033336	Human		name , alternate_id
127284436	CV1093129	single nucleotide variant	NM_006017.3(PROM1):c.967C>T (p.Leu323=)	not provided [RCV001449451]	likely benign	4	16018358	16018358	Human		name
127316301	CV1114678	single nucleotide variant	NM_006017.3(PROM1):c.963G>A (p.Leu321=)	not provided [RCV001465504]	likely benign	4	16018362	16018362	Human		name
127298860	CV1114679	single nucleotide variant	NM_006017.3(PROM1):c.807G>A (p.Ala269=)	Retinal dystrophy [RCV003888201]\|not provided [RCV001478005]	likely benign	4	16018518	16018518	Human	2	name
127302343	CV1114682	single nucleotide variant	NM_006017.3(PROM1):c.349C>T (p.Leu117=)	not provided [RCV001461595]	likely benign	4	16033464	16033464	Human		name
127294605	CV1135573	microsatellite	NM_006017.3(PROM1):c.1141+11_1141+12del	not provided [RCV001497021]	likely benign	4	16013263	16013264	Human		name
127289045	CV1135575	single nucleotide variant	NM_006017.3(PROM1):c.808T>C (p.Leu270=)	PROM1-related disorder [RCV004533880]\|not provided [RCV001495501]	likely benign	4	16018517	16018517	Human		name , alternate_id
127316155	CV1135576	single nucleotide variant	NM_006017.3(PROM1):c.540T>C (p.Asn180=)	not provided [RCV001502941]	likely benign	4	16025282	16025282	Human		name
151746102	CV1365717	single nucleotide variant	NM_006017.3(PROM1):c.83C>T (p.Ala28Val)	not provided [RCV001893786]	uncertain significance	4	16075824	16075824	Human		name
151834853	CV1471341	single nucleotide variant	NM_006017.3(PROM1):c.642T>C (p.Tyr214=)	not provided [RCV001956048]	likely benign	4	16024347	16024347	Human		name
151797397	CV1503815	single nucleotide variant	NM_006017.3(PROM1):c.444G>A (p.Lys148=)	not provided [RCV001973597]	likely benign	4	16033369	16033369	Human		name
152126247	CV1544715	microsatellite	NM_006017.3(PROM1):c.2077-17_2077-15del	not provided [RCV002154914]	likely benign	4	15987731	15987733	Human		name
152154448	CV1560783	single nucleotide variant	NM_006017.3(PROM1):c.750C>A (p.Ile250=)	not provided [RCV002102730]	likely benign	4	16023360	16023360	Human		name
152118781	CV1575905	single nucleotide variant	NM_006017.3(PROM1):c.613T>C (p.Leu205=)	not provided [RCV002197762]	likely benign	4	16025209	16025209	Human		name
152124809	CV1580564	single nucleotide variant	NM_006017.3(PROM1):c.876C>A (p.Thr292=)	not provided [RCV002082063]	likely benign	4	16018449	16018449	Human		name
152065926	CV1601552	single nucleotide variant	NM_006017.3(PROM1):c.756T>A (p.Val252=)	not provided [RCV002168657]	likely benign	4	16023354	16023354	Human		name
152116248	CV1610908	single nucleotide variant	NM_006017.3(PROM1):c.891C>T (p.Ser297=)	not provided [RCV002135131]	likely benign	4	16018434	16018434	Human		name
152161785	CV1619537	microsatellite	NM_006017.3(PROM1):c.2131-16_2131-15del	not provided [RCV002159768]	likely benign	4	15986052	15986053	Human		name
152173136	CV1652924	single nucleotide variant	NM_006017.3(PROM1):c.333A>C (p.Leu111=)	not provided [RCV002144012]	likely benign	4	16033480	16033480	Human		name
152120062	CV1654901	single nucleotide variant	NM_006017.3(PROM1):c.585T>C (p.Asp195=)	not provided [RCV002216655]	likely benign	4	16025237	16025237	Human		name
152154080	CV1657894	insertion	NM_006017.3(PROM1):c.2374-6_2374-5insTC	not provided [RCV002179890]	likely benign	4	15980542	15980543	Human		name
152055547	CV1662614	single nucleotide variant	NM_006017.3(PROM1):c.888T>A (p.Thr296=)	not provided [RCV002146177]	likely benign	4	16018437	16018437	Human		name
155749939	CV1776699	single nucleotide variant	NM_006017.3(PROM1):c.65A>G (p.Gln22Arg)	not provided [RCV002305182]	uncertain significance	4	16075842	16075842	Human		name
156384544	CV1883524	single nucleotide variant	NM_006017.3(PROM1):c.91G>C (p.Ala31Pro)	not provided [RCV003093565]	uncertain significance	4	16075816	16075816	Human		name
10047555	CV190494	single nucleotide variant	NM_006017.3(PROM1):c.55T>G (p.Ser19Ala)	Cone-rod dystrophy 12 [RCV000341369]\|Retinal macular dystrophy type 2 [RCV000398024]\|Retinitis pigmentosa [RCV000306230]\|Stargardt disease 4 [RCV000347121]\|not provided [RCV001515324]\|not specified [RCV000173395]	benign\|likely benign	4	16075852	16075852	Human	5	name
10049483	CV190495	single nucleotide variant	NM_006017.3(PROM1):c.96G>T (p.Trp32Cys)	not provided [RCV000173396]	uncertain significance	4	16075811	16075811	Human		name
10053243	CV195998	single nucleotide variant	NM_006017.3(PROM1):c.879C>T (p.Ser293=)	not provided [RCV000180293]	conflicting interpretations of pathogenicity\|uncertain significance	4	16018446	16018446	Human		name
156407081	CV1963894	single nucleotide variant	NM_006017.3(PROM1):c.43G>A (p.Gly15Arg)	not provided [RCV002586114]	uncertain significance	4	16075864	16075864	Human		name
156073275	CV1968975	single nucleotide variant	NM_006017.3(PROM1):c.76A>G (p.Thr26Ala)	Inborn genetic diseases [RCV004065756]\|not provided [RCV002621310]	uncertain significance	4	16075831	16075831	Human	1	name
156117215	CV1972886	single nucleotide variant	NM_006017.3(PROM1):c.471C>T (p.Cys157=)	not provided [RCV002592993]	likely benign	4	16033342	16033342	Human		name
156256184	CV1977346	single nucleotide variant	NM_006017.3(PROM1):c.916C>T (p.Leu306=)	not provided [RCV002597630]	likely benign	4	16018409	16018409	Human		name
156162470	CV1977860	deletion	NM_006017.3(PROM1):c.2076+11_2076+14del	not provided [RCV002594514]	likely benign	4	15989718	15989721	Human		name
156368339	CV2007500	single nucleotide variant	NM_006017.3(PROM1):c.630G>A (p.Glu210=)	not provided [RCV002676721]	uncertain significance	4	16025192	16025192	Human		name
156368060	CV2021069	single nucleotide variant	NM_006017.3(PROM1):c.603G>A (p.Leu201=)	not provided [RCV002721318]	likely benign	4	16025219	16025219	Human		name
156102943	CV2051199	single nucleotide variant	NM_006017.3(PROM1):c.600C>T (p.Asp200=)	not provided [RCV002824625]	likely benign	4	16025222	16025222	Human		name
156277823	CV2074405	single nucleotide variant	NM_006017.3(PROM1):c.381G>A (p.Gly127=)	not provided [RCV002856277]	likely benign	4	16033432	16033432	Human		name
155984039	CV2101266	microsatellite	NM_006017.3(PROM1):c.2374-19_2374-17del	not provided [RCV002882071]	likely benign	4	15980554	15980556	Human		name
11542094	CV247775	deletion	NM_006017.3(PROM1):c.2281-20_2281-11del	Cone-rod dystrophy 12 [RCV000239774]\|Cone-rod dystrophy [RCV002267734]	pathogenic	4	15984366	15984375	Human	4	name
11549403	CV251366	single nucleotide variant	NM_006017.3(PROM1):c.786G>A (p.Ala262=)	Cone-rod dystrophy 12 [RCV000279196]\|Retinal dystrophy [RCV003888660]\|Retinal macular dystrophy type 2 [RCV000379416]\|Retinitis pigmentosa [RCV000336486]\|Stargardt disease 4 [RCV000375986]\|not provided [RCV000836779]\|not specified [RCV000250373]	benign\|likely benign	4	16018539	16018539	Human	7	name
11638699	CV271281	single nucleotide variant	NM_006017.3(PROM1):c.321A>C (p.Ala107=)	not provided [RCV000308326]	conflicting interpretations of pathogenicity\|uncertain significance	4	16033492	16033492	Human		name
405203136	CV2915172	single nucleotide variant	NM_006017.3(PROM1):c.759T>C (p.Leu253=)	not provided [RCV003566160]	likely benign	4	16023351	16023351	Human		name
405224438	CV2919944	single nucleotide variant	NM_006017.3(PROM1):c.918G>A (p.Leu306=)	not provided [RCV003568910]	likely benign	4	16018407	16018407	Human		name
405100455	CV2938288	deletion	NM_006017.3(PROM1):c.2077-14_2077-13del	not provided [RCV003665902]	likely benign	4	15987729	15987730	Human		name
405084887	CV2946520	single nucleotide variant	NM_006017.3(PROM1):c.348G>A (p.Gly116=)	not provided [RCV003664881]	likely benign	4	16033465	16033465	Human		name
405178712	CV2962087	single nucleotide variant	NM_006017.3(PROM1):c.789C>A (p.Ile263=)	not provided [RCV003676009]	likely benign	4	16018536	16018536	Human		name
11584351	CV297519	single nucleotide variant	NM_006017.3(PROM1):c.843C>T (p.His281=)	Cone-rod dystrophy 12 [RCV000276686]\|Retinal macular dystrophy type 2 [RCV000307126]\|Retinitis pigmentosa [RCV000273099]\|Stargardt disease 4 [RCV000364245]\|not provided [RCV002057920]	benign\|likely benign\|uncertain significance	4	16018482	16018482	Human	5	name
11584557	CV297565	single nucleotide variant	NM_006017.3(PROM1):c.792G>A (p.Lys264=)	Cone-rod dystrophy 12 [RCV000317930]\|Retinal macular dystrophy type 2 [RCV000386341]\|Retinitis pigmentosa [RCV000334145]\|Stargardt disease 4 [RCV000274554]\|not provided [RCV003766007]	likely benign\|uncertain significance	4	16018533	16018533	Human	5	name
11583452	CV297569	single nucleotide variant	NM_006017.3(PROM1):c.717C>T (p.Gly239=)	Cone-rod dystrophy 12 [RCV000324190]\|Retinal macular dystrophy type 2 [RCV000266664]\|Retinitis pigmentosa [RCV000315947]\|Stargardt disease 4 [RCV000372846]\|not provided [RCV001454692]	likely benign\|uncertain significance	4	16023393	16023393	Human	5	name
11585925	CV297593	single nucleotide variant	NM_006017.3(PROM1):c.678G>A (p.Ala226=)	Cone-rod dystrophy 12 [RCV000345958]\|Retinal dystrophy [RCV003888827]\|Retinal macular dystrophy type 2 [RCV000384160]\|Retinitis pigmentosa [RCV000376482]\|Stargardt disease 4 [RCV000283971]\|not provided [RCV000912093]	benign\|likely benign\|uncertain significance	4	16024311	16024311	Human	7	name
404981922	CV2986348	single nucleotide variant	NM_006017.3(PROM1):c.663T>C (p.Thr221=)	Retinal dystrophy [RCV003889321]\|not provided [RCV003691349]	likely benign\|uncertain significance	4	16024326	16024326	Human	2	name
402524074	CV3123608	single nucleotide variant	NM_006017.3(PROM1):c.59G>T (p.Gly20Val)	not provided [RCV003825034]	uncertain significance	4	16075848	16075848	Human		name
405177130	CV3148583	single nucleotide variant	NM_006017.3(PROM1):c.42C>G (p.Cys14Trp)	not provided [RCV003858360]	uncertain significance	4	16075865	16075865	Human		name
405074614	CV3156092	single nucleotide variant	NM_006017.3(PROM1):c.768T>C (p.Ile256=)	not provided [RCV003851150]	likely benign	4	16023342	16023342	Human		name
405244337	CV3161234	single nucleotide variant	NM_006017.3(PROM1):c.813G>A (p.Glu271=)	not provided [RCV003868143]	likely benign	4	16018512	16018512	Human		name
597965016	CV3830645	single nucleotide variant	NM_006017.3(PROM1):c.303G>A (p.Lys101=)	not provided [RCV005164785]	uncertain significance	4	16035735	16035735	Human		name
598203577	CV3896458	deletion	NM_006017.3(PROM1):c.154del (p.Ile52fs)	Stargardt disease 4 [RCV005356699]	likely pathogenic	4	16075753	16075753	Human	1	name
13523055	CV489365	single nucleotide variant	NM_006017.3(PROM1):c.97A>G (p.Asn33Asp)	not provided [RCV000592517]	uncertain significance	4	16075810	16075810	Human		name
13706342	CV537451	single nucleotide variant	NM_006017.3(PROM1):c.85C>T (p.Pro29Ser)	Retinal dystrophy [RCV003889942]\|not provided [RCV000658995]	uncertain significance	4	16075822	16075822	Human	2	name
13795167	CV551535	duplication	NM_006017.3(PROM1):c.262dup (p.Ile88fs)	Cone-rod dystrophy 12 [RCV000678603]	pathogenic	4	16038959	16038960	Human	1	name
14396990	CV612679	single nucleotide variant	NM_006017.3(PROM1):c.83C>A (p.Ala28Asp)	not provided [RCV000762095]	uncertain significance	4	16075824	16075824	Human		name
15017079	CV681857	deletion	NM_006017.3(PROM1):c.139del (p.His47fs)	Cone-rod dystrophy 12 [RCV005235496]\|Leber congenital amaurosis 1 [RCV000855430]\|Retinitis pigmentosa 41 [RCV002051900]\|not provided [RCV001858523]	pathogenic\|likely pathogenic	4	16075768	16075768	Human	3	name
15199644	CV720819	single nucleotide variant	NM_006017.3(PROM1):c.714A>G (p.Gly238=)	Cone-rod dystrophy 12 [RCV001147060]\|PROM1-related disorder [RCV004735870]\|Retinal macular dystrophy type 2 [RCV001147063]\|Retinitis pigmentosa [RCV001147062]\|Stargardt disease 4 [RCV001147061]\|not provided [RCV000890690]\|not specified [RCV001000892]	benign\|likely benign\|uncertain significance	4	16023396	16023396	Human	5	name , alternate_id
15168953	CV720820	single nucleotide variant	NM_006017.3(PROM1):c.684A>G (p.Thr228=)	not provided [RCV000883168]	likely benign	4	16024305	16024305	Human		name
15163066	CV734509	single nucleotide variant	NM_006017.3(PROM1):c.801A>G (p.Lys267=)	not provided [RCV000903691]	likely benign	4	16018524	16018524	Human		name
15192194	CV734510	single nucleotide variant	NM_006017.3(PROM1):c.333A>G (p.Leu111=)	Retinal dystrophy [RCV003890055]\|not provided [RCV000910468]	benign\|likely benign	4	16033480	16033480	Human	2	name
15197183	CV748799	single nucleotide variant	NM_006017.3(PROM1):c.999G>A (p.Arg333=)	not provided [RCV000911905]	likely benign	4	16018326	16018326	Human		name
15138644	CV781898	single nucleotide variant	NM_006017.3(PROM1):c.921C>T (p.Cys307=)	not provided [RCV000982506]	likely benign	4	16018404	16018404	Human		name
21068794	CV795554	single nucleotide variant	NM_006017.3(PROM1):c.906C>T (p.Leu302=)	not provided [RCV000998229]	likely benign	4	16018419	16018419	Human		name
21405629	CV799345	single nucleotide variant	NM_006017.3(PROM1):c.456C>G (p.Pro152=)	not provided [RCV001470779]\|not specified [RCV001000893]	likely benign	4	16033357	16033357	Human		name
26910840	CV856329	single nucleotide variant	NM_006017.3(PROM1):c.53T>C (p.Phe18Ser)	Retinal dystrophy [RCV001075541]	uncertain significance	4	16075854	16075854	Human	2	name
38488607	CV923459	single nucleotide variant	NM_006017.3(PROM1):c.50C>A (p.Ser17Tyr)	not provided [RCV001221310]	uncertain significance	4	16075857	16075857	Human		name
38476822	CV943891	single nucleotide variant	NM_006017.3(PROM1):c.89A>G (p.Lys30Arg)	Inborn genetic diseases [RCV005262320]\|not provided [RCV001233243]	uncertain significance	4	16075818	16075818	Human	1	name
8642244	CV101228	single nucleotide variant	NM_006017.3(PROM1):c.1977C>T (p.Asn659=)	Cone-rod dystrophy 12 [RCV000351307]\|Retinal disorders [RCV005400701]\|Retinal macular dystrophy type 2 [RCV000296436]\|Retinitis pigmentosa [RCV000381327]\|Stargardt disease 4 [RCV000326660]\|not provided [RCV000892544]\|not specified [RCV000081346]	benign\|likely benign\|uncertain significance	4	15991228	15991228	Human	6	name
126771286	CV1025728	single nucleotide variant	NM_006017.3(PROM1):c.1578G>A (p.Arg526=)	not provided [RCV001344948]	uncertain significance	4	16000496	16000496	Human		name
126766044	CV1025729	single nucleotide variant	NM_006017.3(PROM1):c.1344C>A (p.Ile448=)	not provided [RCV001342269]	likely benign\|uncertain significance	4	16006648	16006648	Human		name
127276443	CV1071517	single nucleotide variant	NM_006017.3(PROM1):c.2085A>G (p.Leu695=)	not provided [RCV001407164]	likely benign	4	15987708	15987708	Human		name
127243073	CV1071518	single nucleotide variant	NM_006017.3(PROM1):c.2043C>T (p.His681=)	not provided [RCV001416059]	likely benign	4	15989765	15989765	Human		name
127280029	CV1071521	single nucleotide variant	NM_006017.3(PROM1):c.1330C>T (p.Leu444=)	not provided [RCV001409515]	likely benign	4	16006662	16006662	Human		name
127241402	CV1093125	single nucleotide variant	NM_006017.3(PROM1):c.2484C>T (p.Tyr828=)	not provided [RCV001434396]	likely benign	4	15980427	15980427	Human		name
127271955	CV1093126	single nucleotide variant	NM_006017.3(PROM1):c.2481G>A (p.Val827=)	not provided [RCV001442001]	likely benign	4	15980430	15980430	Human		name
127266901	CV1093127	single nucleotide variant	NM_006017.3(PROM1):c.2115A>G (p.Thr705=)	not provided [RCV001429501]	likely benign	4	15987678	15987678	Human		name
127297008	CV1114671	single nucleotide variant	NM_006017.3(PROM1):c.2253A>G (p.Glu751=)	not provided [RCV001452918]	likely benign	4	15985787	15985787	Human		name
127300348	CV1114672	single nucleotide variant	NM_006017.3(PROM1):c.2238A>T (p.Ile746=)	not provided [RCV001478401]	likely benign	4	15985802	15985802	Human		name
127290879	CV1114673	single nucleotide variant	NM_006017.3(PROM1):c.2199T>C (p.Ser733=)	not provided [RCV001451361]	likely benign	4	15985969	15985969	Human		name
127335169	CV1114674	single nucleotide variant	NM_006017.3(PROM1):c.2151A>G (p.Leu717=)	not provided [RCV001474054]	likely benign	4	15986017	15986017	Human		name
127300314	CV1114675	single nucleotide variant	NM_006017.3(PROM1):c.1995T>C (p.Asn665=)	not provided [RCV001478395]	likely benign	4	15989813	15989813	Human		name
127331071	CV1114676	single nucleotide variant	NM_006017.3(PROM1):c.1926C>T (p.Pro642=)	not provided [RCV001471310]	likely benign	4	15991279	15991279	Human		name
127297703	CV1114677	single nucleotide variant	NM_006017.3(PROM1):c.1263C>T (p.His421=)	not provided [RCV001453118]	likely benign	4	16008987	16008987	Human		name
127305247	CV1135572	single nucleotide variant	NM_006017.3(PROM1):c.1560G>A (p.Thr520=)	not provided [RCV001479737]	likely benign	4	16000514	16000514	Human		name
127299727	CV1154698	single nucleotide variant	NM_006017.3(PROM1):c.2454C>T (p.Tyr818=)	PROM1-related disorder [RCV004533928]\|not provided [RCV001513817]	benign\|likely benign	4	15980457	15980457	Human		name , alternate_id
127303120	CV1154700	single nucleotide variant	NM_006017.3(PROM1):c.2358C>T (p.Tyr786=)	not provided [RCV001515341]	benign	4	15984278	15984278	Human		name
151851780	CV1358417	deletion	NM_006017.3(PROM1):c.754del (p.Val252fs)	not provided [RCV001979040]	pathogenic	4	16023356	16023356	Human		name
151837452	CV1383270	duplication	NM_006017.3(PROM1):c.386dup (p.Phe130fs)	not provided [RCV001935709]	pathogenic	4	16033426	16033427	Human		name
151890188	CV1394745	single nucleotide variant	NM_006017.3(PROM1):c.205C>T (p.Arg69Cys)	not provided [RCV001888346]	uncertain significance	4	16075702	16075702	Human		name
151803946	CV1401596	single nucleotide variant	NM_006017.3(PROM1):c.1953A>G (p.Ala651=)	not provided [RCV001932566]	likely benign\|uncertain significance	4	15991252	15991252	Human		name
151891562	CV1410145	single nucleotide variant	NM_006017.3(PROM1):c.1002G>A (p.Gln334=)	not provided [RCV001943418]	uncertain significance	4	16018323	16018323	Human		name
151768172	CV1410440	single nucleotide variant	NM_006017.3(PROM1):c.268T>A (p.Tyr90Asn)	Inborn genetic diseases [RCV002563481]\|not provided [RCV001987984]	uncertain significance	4	16038954	16038954	Human	1	name
151823227	CV1412103	single nucleotide variant	NM_006017.3(PROM1):c.262A>T (p.Ile88Phe)	not provided [RCV001901089]	uncertain significance	4	16038960	16038960	Human		name
151722509	CV1414019	single nucleotide variant	NM_006017.3(PROM1):c.2130G>A (p.Leu710=)	not provided [RCV002020387]	uncertain significance	4	15987663	15987663	Human		name
151889225	CV1419510	single nucleotide variant	NM_006017.3(PROM1):c.124G>A (p.Glu42Lys)	Inborn genetic diseases [RCV004044407]\|Retinal dystrophy [RCV003888948]\|not provided [RCV001963385]	uncertain significance	4	16075783	16075783	Human	3	name
151760347	CV1435004	single nucleotide variant	NM_006017.3(PROM1):c.1533G>A (p.Val511=)	not provided [RCV001913904]	likely benign\|uncertain significance	4	16000541	16000541	Human		name
151769270	CV1441864	single nucleotide variant	NM_006017.3(PROM1):c.199C>G (p.Gln67Glu)	Inborn genetic diseases [RCV004042486]\|not provided [RCV002025196]	uncertain significance	4	16075708	16075708	Human	1	name
151862369	CV1448769	single nucleotide variant	NM_006017.3(PROM1):c.2136A>G (p.Arg712=)	Retinal dystrophy [RCV004816847]\|not provided [RCV001959383]	likely benign\|uncertain significance	4	15986032	15986032	Human	2	name
151748106	CV1478766	single nucleotide variant	NM_006017.3(PROM1):c.152C>T (p.Pro51Leu)	Inborn genetic diseases [RCV005264174]\|not provided [RCV002023071]	uncertain significance	4	16075755	16075755	Human	1	name
151792403	CV1490137	single nucleotide variant	NM_006017.3(PROM1):c.2421G>A (p.Pro807=)	not provided [RCV001952171]	uncertain significance	4	15980490	15980490	Human		name
151754929	CV1498832	single nucleotide variant	NM_006017.3(PROM1):c.133G>A (p.Asp45Asn)	not provided [RCV002023758]	uncertain significance	4	16075774	16075774	Human		name
151773287	CV1502259	single nucleotide variant	NM_006017.3(PROM1):c.179A>G (p.His60Arg)	not provided [RCV001929737]	uncertain significance	4	16075728	16075728	Human		name
151769991	CV1502377	single nucleotide variant	NM_006017.3(PROM1):c.116C>A (p.Thr39Lys)	not provided [RCV001896241]	uncertain significance	4	16075791	16075791	Human		name
151873751	CV1511332	single nucleotide variant	NM_006017.3(PROM1):c.245A>G (p.Lys82Arg)	not provided [RCV001960781]	uncertain significance	4	16038977	16038977	Human		name
152108700	CV1530009	single nucleotide variant	NM_006017.3(PROM1):c.1962A>G (p.Leu654=)	not provided [RCV002196490]	likely benign	4	15991243	15991243	Human		name
152090964	CV1532015	single nucleotide variant	NM_006017.3(PROM1):c.1716T>C (p.Thr572=)	not provided [RCV002077706]	likely benign	4	15994038	15994038	Human		name
152141907	CV1533028	single nucleotide variant	NM_006017.3(PROM1):c.2028T>A (p.Thr676=)	not provided [RCV002156883]	likely benign	4	15989780	15989780	Human		name
152082249	CV1548415	single nucleotide variant	NM_006017.3(PROM1):c.2478C>T (p.Asp826=)	not provided [RCV002076527]	likely benign	4	15980433	15980433	Human		name
152138306	CV1564966	single nucleotide variant	NM_006017.3(PROM1):c.1011C>T (p.Pro337=)	not provided [RCV002083815]	likely benign	4	16016232	16016232	Human		name
152068177	CV1567067	single nucleotide variant	NM_006017.3(PROM1):c.1179C>T (p.Ile393=)	not provided [RCV002091216]	likely benign	4	16009071	16009071	Human		name
152087520	CV1574086	single nucleotide variant	NM_006017.3(PROM1):c.1041C>T (p.Asn347=)	not provided [RCV002150138]	likely benign	4	16016202	16016202	Human		name
152102235	CV1579007	single nucleotide variant	NM_006017.3(PROM1):c.1047T>C (p.Leu349=)	not provided [RCV002079143]	likely benign	4	16016196	16016196	Human		name
152136004	CV1587750	single nucleotide variant	NM_006017.3(PROM1):c.1593C>T (p.Pro531=)	not provided [RCV002083510]	likely benign	4	15998474	15998474	Human		name
152153655	CV1592104	single nucleotide variant	NM_006017.3(PROM1):c.1320C>T (p.Val440=)	not provided [RCV002102612]	likely benign\|conflicting interpretations of pathogenicity	4	16006672	16006672	Human		name
152072322	CV1597703	single nucleotide variant	NM_006017.3(PROM1):c.1182C>T (p.Asp394=)	not provided [RCV002169458]	likely benign	4	16009068	16009068	Human		name
152167638	CV1600874	single nucleotide variant	NM_006017.3(PROM1):c.1410C>A (p.Thr470=)	not provided [RCV002160917]	likely benign	4	16006582	16006582	Human		name
152161652	CV1606194	single nucleotide variant	NM_006017.3(PROM1):c.1722C>T (p.His574=)	not provided [RCV002181038]	likely benign	4	15994032	15994032	Human		name
152087382	CV1608526	single nucleotide variant	NM_006017.3(PROM1):c.1596C>T (p.Tyr532=)	not provided [RCV002212232]	likely benign	4	15998471	15998471	Human		name
152158874	CV1620902	single nucleotide variant	NM_006017.3(PROM1):c.1221A>G (p.Ser407=)	not provided [RCV002203087]	likely benign	4	16009029	16009029	Human		name
152130628	CV1635058	single nucleotide variant	NM_006017.3(PROM1):c.1434C>T (p.Thr478=)	not provided [RCV002099436]	likely benign	4	16006558	16006558	Human		name
152040101	CV1644525	single nucleotide variant	NM_006017.3(PROM1):c.1392C>T (p.Asp464=)	not provided [RCV002165558]	likely benign	4	16006600	16006600	Human		name
152075042	CV1652875	single nucleotide variant	NM_006017.3(PROM1):c.1386C>T (p.Gly462=)	not provided [RCV002148588]	likely benign	4	16006606	16006606	Human		name
155744412	CV1773854	single nucleotide variant	NM_006017.3(PROM1):c.272A>G (p.Asp91Gly)	not provided [RCV002303154]	uncertain significance	4	16038950	16038950	Human		name
9688770	CV177982	single nucleotide variant	NM_006017.3(PROM1):c.1497C>T (p.Ile499=)	Cone-rod dystrophy 12 [RCV001150904]\|Retinal dystrophy [RCV004815231]\|Retinal macular dystrophy type 2 [RCV001144801]\|Retinitis pigmentosa [RCV001150902]\|Stargardt disease 4 [RCV001150903]\|not provided [RCV000757689]\|not specified [RCV000153771]	benign\|likely benign\|uncertain significance	4	16000577	16000577	Human	7	name
156412885	CV1887001	single nucleotide variant	NM_006017.3(PROM1):c.161T>C (p.Ile54Thr)	not provided [RCV003073072]	uncertain significance	4	16075746	16075746	Human		name
156293183	CV1892060	single nucleotide variant	NM_006017.3(PROM1):c.1584G>A (p.Leu528=)	not provided [RCV003061548]	likely benign	4	15998483	15998483	Human		name
10049481	CV190492	single nucleotide variant	NM_006017.3(PROM1):c.134A>G (p.Asp45Gly)	Inborn genetic diseases [RCV002516583]\|not provided [RCV000173393]	conflicting interpretations of pathogenicity\|uncertain significance	4	16075773	16075773	Human	1	name
10049482	CV190493	single nucleotide variant	NM_006017.3(PROM1):c.103G>C (p.Glu35Gln)	Inborn genetic diseases [RCV002517664]\|not provided [RCV000173394]	conflicting interpretations of pathogenicity\|uncertain significance	4	16075804	16075804	Human	1	name
156250676	CV1967199	single nucleotide variant	NM_006017.3(PROM1):c.1827G>T (p.Leu609=)	not provided [RCV002597459]	uncertain significance	4	15992332	15992332	Human		name
156150082	CV1967410	single nucleotide variant	NM_006017.3(PROM1):c.1134C>T (p.Val378=)	not provided [RCV002594117]	likely benign	4	16013282	16013282	Human		name
156267514	CV1994017	single nucleotide variant	NM_006017.3(PROM1):c.169G>A (p.Glu57Lys)	not provided [RCV002646423]	uncertain significance	4	16075738	16075738	Human		name
156213531	CV1997261	single nucleotide variant	NM_006017.3(PROM1):c.1383C>T (p.Cys461=)	not provided [RCV002666934]	likely benign	4	16006609	16006609	Human		name
156041195	CV1999030	single nucleotide variant	NM_006017.3(PROM1):c.1767G>A (p.Glu589=)	not provided [RCV002659044]	pathogenic\|uncertain significance	4	15993987	15993987	Human		name
156107530	CV2008456	single nucleotide variant	NM_006017.3(PROM1):c.2325A>G (p.Leu775=)	not provided [RCV002695538]	likely benign	4	15984311	15984311	Human		name
156197756	CV2024418	single nucleotide variant	NM_006017.3(PROM1):c.140A>G (p.His47Arg)	not provided [RCV002711296]	uncertain significance	4	16075767	16075767	Human		name
155940207	CV2025376	single nucleotide variant	NM_006017.3(PROM1):c.1005T>G (p.Leu335=)	not provided [RCV002730061]	likely benign	4	16016238	16016238	Human		name
156013323	CV2035848	single nucleotide variant	NM_006017.3(PROM1):c.1960C>T (p.Leu654=)	not provided [RCV002756804]	likely benign	4	15991245	15991245	Human		name
156280347	CV2053798	single nucleotide variant	NM_006017.3(PROM1):c.238T>G (p.Leu80Val)	not provided [RCV002806969]	uncertain significance	4	16038984	16038984	Human		name
156001196	CV2057438	single nucleotide variant	NM_006017.3(PROM1):c.295G>T (p.Gly99Cys)	not provided [RCV002819657]	uncertain significance	4	16035743	16035743	Human		name
156293218	CV2065175	single nucleotide variant	NM_006017.3(PROM1):c.1422T>C (p.Cys474=)	not provided [RCV002856839]	likely benign	4	16006570	16006570	Human		name
156265621	CV2100924	single nucleotide variant	NM_006017.3(PROM1):c.1731C>T (p.Asn577=)	not provided [RCV002877427]	likely benign	4	15994023	15994023	Human		name
156371766	CV2109946	single nucleotide variant	NM_006017.3(PROM1):c.1071C>T (p.Val357=)	not provided [RCV002942380]	likely benign	4	16016172	16016172	Human		name
156031777	CV2117571	single nucleotide variant	NM_006017.3(PROM1):c.1044T>C (p.Val348=)	not provided [RCV002923546]	likely benign	4	16016199	16016199	Human		name
156365807	CV2130619	single nucleotide variant	NM_006017.3(PROM1):c.160A>G (p.Ile54Val)	not provided [RCV002967294]	uncertain significance	4	16075747	16075747	Human		name
155937490	CV2135095	single nucleotide variant	NM_006017.3(PROM1):c.2301G>A (p.Ser767=)	not provided [RCV002993835]	likely benign	4	15984335	15984335	Human		name
156137259	CV2141239	single nucleotide variant	NM_006017.3(PROM1):c.2436G>A (p.Ala812=)	not provided [RCV002982183]	likely benign	4	15980475	15980475	Human		name
156186068	CV2152230	single nucleotide variant	NM_006017.3(PROM1):c.1333C>T (p.Leu445=)	not provided [RCV003005856]	likely benign	4	16006659	16006659	Human		name
156028770	CV2156255	single nucleotide variant	NM_006017.3(PROM1):c.2553A>G (p.Val851=)	not provided [RCV003018581]	likely benign\|uncertain significance	4	15979424	15979424	Human		name
155953978	CV2161519	single nucleotide variant	NM_006017.3(PROM1):c.1315C>T (p.Leu439=)	not provided [RCV003032585]	likely benign	4	16006677	16006677	Human		name
156230409	CV2165000	single nucleotide variant	NM_006017.3(PROM1):c.162T>G (p.Ile54Met)	not provided [RCV003043064]	uncertain significance	4	16075745	16075745	Human		name
156296098	CV2179472	single nucleotide variant	NM_006017.3(PROM1):c.260A>G (p.Lys87Arg)	not provided [RCV003027880]	uncertain significance	4	16038962	16038962	Human		name
156127523	CV2184799	single nucleotide variant	NM_006017.3(PROM1):c.1209G>A (p.Gln403=)	not provided [RCV003039564]	likely benign	4	16009041	16009041	Human		name
156283576	CV2187004	single nucleotide variant	NM_006017.3(PROM1):c.2046G>A (p.Gln682=)	not provided [RCV003044860]	likely benign	4	15989762	15989762	Human		name
11345586	CV238018	single nucleotide variant	NM_006017.3(PROM1):c.1632G>T (p.Gly544=)	Retinal dystrophy [RCV000225631]\|Stargardt disease 4 [RCV000765765]\|not provided [RCV000488414]	likely pathogenic\|uncertain significance	4	15998435	15998435	Human	3	name
11578753	CV273853	single nucleotide variant	NM_006017.3(PROM1):c.2271C>T (p.Ile757=)	Cone-rod dystrophy 12 [RCV000390492]\|Retinal macular dystrophy type 2 [RCV000401506]\|Retinitis pigmentosa [RCV000352868]\|Stargardt disease 4 [RCV000288468]\|not provided [RCV000386501]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	15985769	15985769	Human	5	name
11650916	CV292704	single nucleotide variant	NM_006017.3(PROM1):c.1218C>G (p.Leu406=)	Cone-rod dystrophy 12 [RCV000388013]\|Retinal macular dystrophy type 2 [RCV000295982]\|Retinitis pigmentosa [RCV000394593]\|Stargardt disease 4 [RCV000348661]\|not provided [RCV001504867]	likely benign\|uncertain significance	4	16009032	16009032	Human	5	name
11587446	CV294074	single nucleotide variant	NM_006017.3(PROM1):c.1377C>T (p.Gly459=)	Cone-rod dystrophy 12 [RCV000352517]\|Retinal macular dystrophy type 2 [RCV000295344]\|Retinitis pigmentosa [RCV000401437]\|Stargardt disease 4 [RCV000312842]\|not provided [RCV001861230]	likely benign\|uncertain significance	4	16006615	16006615	Human	5	name
11584473	CV294079	single nucleotide variant	NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)	Cone-rod dystrophy 12 [RCV000273932]\|Retinal dystrophy [RCV004816594]\|Retinal macular dystrophy type 2 [RCV000333734]\|Retinitis pigmentosa [RCV000327985]\|Stargardt disease 4 [RCV000368597]\|not provided [RCV001850847]	uncertain significance	4	16075752	16075752	Human	7	name
405128740	CV2954946	single nucleotide variant	NM_006017.3(PROM1):c.1341C>T (p.Leu447=)	not provided [RCV003668184]	likely benign	4	16006651	16006651	Human		name
405116522	CV2961659	single nucleotide variant	NM_006017.3(PROM1):c.178C>T (p.His60Tyr)	not provided [RCV003671008]	uncertain significance	4	16075729	16075729	Human		name
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	name
11585906	CV297546	single nucleotide variant	NM_006017.3(PROM1):c.2364C>T (p.Ile788=)	Cone-rod dystrophy 12 [RCV000399730]\|Retinal macular dystrophy type 2 [RCV000283949]\|Retinitis pigmentosa [RCV000399383]\|Stargardt disease 4 [RCV000339031]\|not provided [RCV001442000]	likely benign\|uncertain significance	4	15984272	15984272	Human	5	name
11587741	CV297555	single nucleotide variant	NM_006017.3(PROM1):c.1344C>T (p.Ile448=)	Cone-rod dystrophy 12 [RCV000354443]\|PROM1-related disorder [RCV004530407]\|Retinal dystrophy [RCV003888824]\|Retinal macular dystrophy type 2 [RCV000407818]\|Retinitis pigmentosa [RCV000297263]\|Stargardt disease 4 [RCV000355570]\|not provided [RCV000998227]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	16006648	16006648	Human	7	name , alternate_id
405248388	CV2983972	single nucleotide variant	NM_006017.3(PROM1):c.1116A>G (p.Gln372=)	not provided [RCV003685896]	likely benign	4	16013300	16013300	Human		name
404994292	CV2996058	single nucleotide variant	NM_006017.3(PROM1):c.1260C>T (p.Ile420=)	not provided [RCV003692589]	likely benign	4	16008990	16008990	Human		name
402482758	CV3001327	single nucleotide variant	NM_006017.3(PROM1):c.1989A>G (p.Pro663=)	not provided [RCV003686746]	likely benign	4	15989819	15989819	Human		name
405086206	CV3028260	single nucleotide variant	NM_006017.3(PROM1):c.241C>T (p.Gln81Ter)	not provided [RCV003699314]	pathogenic	4	16038981	16038981	Human		name
405047046	CV3071749	single nucleotide variant	NM_006017.3(PROM1):c.1806G>A (p.Lys602=)	not provided [RCV003740330]	uncertain significance	4	15992353	15992353	Human		name
405229134	CV3075479	single nucleotide variant	NM_006017.3(PROM1):c.1551A>G (p.Glu517=)	not provided [RCV003734590]	likely benign	4	16000523	16000523	Human		name
405196326	CV3128695	single nucleotide variant	NM_006017.3(PROM1):c.1638A>G (p.Leu546=)	not provided [RCV003821433]	likely benign	4	15998429	15998429	Human		name
405224485	CV3142197	single nucleotide variant	NM_006017.3(PROM1):c.206G>A (p.Arg69His)	not provided [RCV003847736]	uncertain significance	4	16075701	16075701	Human		name
405186371	CV3149060	single nucleotide variant	NM_006017.3(PROM1):c.1440C>T (p.Gly480=)	PROM1-related disorder [RCV004539165]\|not provided [RCV003842984]	likely benign	4	16006552	16006552	Human		name , alternate_id
405264353	CV3187942	single nucleotide variant	NM_006017.3(PROM1):c.1659G>A (p.Lys553=)	Retinal dystrophy [RCV003890888]	likely benign	4	15998408	15998408	Human	2	name
405264354	CV3187943	single nucleotide variant	NM_006017.3(PROM1):c.1545C>T (p.Ile515=)	Retinal dystrophy [RCV003890889]	uncertain significance	4	16000529	16000529	Human	2	name
405264358	CV3187945	single nucleotide variant	NM_006017.3(PROM1):c.1407G>T (p.Pro469=)	Retinal dystrophy [RCV003890891]	uncertain significance	4	16006585	16006585	Human	2	name
596939812	CV3408040	duplication	NM_006017.3(PROM1):c.864dup (p.Ser289fs)	Retinal dystrophy [RCV004814500]	pathogenic	4	16018460	16018461	Human	2	name
596944022	CV3408654	single nucleotide variant	NM_006017.3(PROM1):c.252T>A (p.Tyr84Ter)	Retinal dystrophy [RCV004817303]	likely pathogenic	4	16038970	16038970	Human	2	name
407491271	CV3496642	duplication	NM_006017.3(PROM1):c.914dup (p.Leu306fs)	Cone-rod dystrophy 12 [RCV004696843]	pathogenic	4	16018410	16018411	Human	1	name
597695189	CV3588117	single nucleotide variant	NM_006017.3(PROM1):c.154A>T (p.Ile52Phe)	Inborn genetic diseases [RCV004954714]	uncertain significance	4	16075753	16075753	Human	1	name
597851541	CV3737543	single nucleotide variant	NM_006017.3(PROM1):c.1032C>T (p.Asn344=)	not provided [RCV005066316]	likely benign	4	16016211	16016211	Human		name
597857025	CV3748120	single nucleotide variant	NM_006017.3(PROM1):c.255A>T (p.Glu85Asp)	not provided [RCV005066942]	uncertain significance	4	16038967	16038967	Human		name
597922182	CV3775662	single nucleotide variant	NM_006017.3(PROM1):c.1842A>T (p.Gly614=)	not provided [RCV005115377]	uncertain significance	4	15992317	15992317	Human		name
597945608	CV3786945	single nucleotide variant	NM_006017.3(PROM1):c.187C>G (p.Leu63Val)	not provided [RCV005119765]	uncertain significance	4	16075720	16075720	Human		name
597927413	CV3788675	single nucleotide variant	NM_006017.3(PROM1):c.139C>T (p.His47Tyr)	not provided [RCV005131153]	uncertain significance	4	16075768	16075768	Human		name
597951792	CV3798422	single nucleotide variant	NM_006017.3(PROM1):c.1296A>G (p.Ser432=)	not provided [RCV005136203]	likely benign	4	16008954	16008954	Human		name
597974774	CV3831834	single nucleotide variant	NM_006017.3(PROM1):c.1599A>G (p.Leu533=)	not provided [RCV005168773]	likely benign	4	15998468	15998468	Human		name
597927101	CV3836876	single nucleotide variant	NM_006017.3(PROM1):c.1662C>T (p.Leu554=)	not provided [RCV005185227]	likely benign	4	15998405	15998405	Human		name
12858958	CV389198	deletion	NM_006017.3(PROM1):c.622del (p.Thr208fs)	Retinal dystrophy [RCV001073994]\|Retinitis pigmentosa 41 [RCV000454283]\|Stargardt disease 4 [RCV005355783]\|not provided [RCV001048594]	pathogenic\|likely pathogenic	4	16025200	16025200	Human	4	name
12905574	CV413664	single nucleotide variant	NM_006017.3(PROM1):c.2319C>T (p.Thr773=)	not provided [RCV000487690]	conflicting interpretations of pathogenicity\|uncertain significance	4	15984317	15984317	Human		name
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	name
15159587	CV720818	single nucleotide variant	NM_006017.3(PROM1):c.1194G>A (p.Gln398=)	not provided [RCV000881222]	likely benign	4	16009056	16009056	Human		name
15189837	CV734508	single nucleotide variant	NM_006017.3(PROM1):c.1128G>A (p.Thr376=)	not provided [RCV000909771]	benign	4	16013288	16013288	Human		name
15126267	CV748798	single nucleotide variant	NM_006017.3(PROM1):c.2094C>T (p.Ser698=)	not provided [RCV000919293]	likely benign	4	15987699	15987699	Human		name
15200801	CV764376	single nucleotide variant	NM_006017.3(PROM1):c.1279T>C (p.Leu427=)	Cone-rod dystrophy 12 [RCV001146867]\|Retinal macular dystrophy type 2 [RCV001144915]\|Retinitis pigmentosa [RCV001144916]\|Stargardt disease 4 [RCV001144917]\|not provided [RCV000935482]	benign\|likely benign\|uncertain significance	4	16008971	16008971	Human	5	name
21071296	CV790455	deletion	NM_006017.3(PROM1):c.869del (p.Ser290fs)	Cone-rod dystrophy [RCV003324542]\|Retinitis pigmentosa 41 [RCV000987423]\|not provided [RCV001858666]	pathogenic	4	16018456	16018456	Human	4	name
26920134	CV828930	single nucleotide variant	NM_006017.3(PROM1):c.2472G>A (p.Ser824=)	not provided [RCV001047040]	likely benign\|uncertain significance	4	15980439	15980439	Human		name
26915293	CV828940	single nucleotide variant	NM_006017.3(PROM1):c.132A>T (p.Gln44His)	not provided [RCV001038799]	uncertain significance	4	16075775	16075775	Human		name
8631062	CV86218	single nucleotide variant	NM_006017.2(PROM1):c.1164C>T (p.Ser388=)	Malignant melanoma [RCV000066309]	not provided	4	16009086	16009086	Human		name
28903238	CV890374	single nucleotide variant	NM_006017.3(PROM1):c.2397A>G (p.Gly799=)	Cone-rod dystrophy 12 [RCV001143945]\|Retinal macular dystrophy type 2 [RCV001143946]\|Retinitis pigmentosa [RCV001143944]\|Stargardt disease 4 [RCV001143943]	uncertain significance	4	15980514	15980514	Human	5	name
28873247	CV890378	single nucleotide variant	NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)	Cone-rod dystrophy 12 [RCV001146664]\|Retinal dystrophy [RCV003890297]\|Retinal macular dystrophy type 2 [RCV001144701]\|Retinitis pigmentosa [RCV001144702]\|Stargardt disease 4 [RCV001144703]\|not provided [RCV002557089]	likely benign\|uncertain significance	4	15994044	15994044	Human	7	name
28873449	CV890380	single nucleotide variant	NM_006017.3(PROM1):c.1407G>A (p.Pro469=)	Cone-rod dystrophy 12 [RCV001146764]\|Retinal dystrophy [RCV003890301]\|Retinal macular dystrophy type 2 [RCV001146765]\|Retinitis pigmentosa [RCV001146763]\|Stargardt disease 4 [RCV001146762]\|not provided [RCV001442163]	likely benign\|uncertain significance	4	16006585	16006585	Human	7	name
28881430	CV890386	single nucleotide variant	NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)	Cone-rod dystrophy 12 [RCV001149625]\|Retinal macular dystrophy type 2 [RCV001149626]\|Retinitis pigmentosa [RCV001149624]\|Stargardt disease 4 [RCV001149627]	uncertain significance	4	16038972	16038972	Human	5	name
28870326	CV890387	single nucleotide variant	NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)	Cone-rod dystrophy 12 [RCV001145315]\|Retinal dystrophy [RCV003890299]\|Retinal macular dystrophy type 2 [RCV001145317]\|Retinitis pigmentosa [RCV001145316]\|Stargardt disease 4 [RCV001147260]\|not provided [RCV001366102]	likely benign\|uncertain significance	4	16075749	16075749	Human	7	name
38491451	CV923458	single nucleotide variant	NM_006017.3(PROM1):c.149G>A (p.Gly50Glu)	Inborn genetic diseases [RCV004960575]\|not provided [RCV001222847]	uncertain significance	4	16075758	16075758	Human	1	name
38483002	CV932246	single nucleotide variant	NM_006017.3(PROM1):c.247G>A (p.Ala83Thr)	Inborn genetic diseases [RCV003284047]\|not provided [RCV001207483]	uncertain significance	4	16038975	16038975	Human	1	name
38484450	CV943889	single nucleotide variant	NM_006017.3(PROM1):c.253G>T (p.Glu85Ter)	not provided [RCV001236342]	pathogenic	4	16038969	16038969	Human		name
38482499	CV943890	single nucleotide variant	NM_006017.3(PROM1):c.232A>C (p.Lys78Gln)	not provided [RCV001235550]	uncertain significance	4	16038990	16038990	Human		name
40890166	CV975130	single nucleotide variant	NM_006017.3(PROM1):c.199C>T (p.Gln67Ter)	not provided [RCV001268778]	pathogenic	4	16075708	16075708	Human		name
126743160	CV990012	single nucleotide variant	NM_006017.3(PROM1):c.203C>T (p.Pro68Leu)	Inborn genetic diseases [RCV003355375]\|not provided [RCV001305657]	uncertain significance	4	16075704	16075704	Human	1	name
126737327	CV1005160	single nucleotide variant	NM_006017.3(PROM1):c.950A>G (p.Asn317Ser)	not provided [RCV001324781]	uncertain significance	4	16018375	16018375	Human		name
126769449	CV1005161	single nucleotide variant	NM_006017.3(PROM1):c.880G>A (p.Val294Met)	not provided [RCV001321966]	uncertain significance	4	16018445	16018445	Human		name
126756892	CV1005162	single nucleotide variant	NM_006017.3(PROM1):c.645A>G (p.Ile215Met)	Inborn genetic diseases [RCV003166825]\|PROM1-related disorder [RCV004734121]\|not provided [RCV001317327]	uncertain significance	4	16024344	16024344	Human	1	name , alternate_id
126764535	CV1005163	single nucleotide variant	NM_006017.3(PROM1):c.605G>T (p.Arg202Leu)	not provided [RCV001319685]	uncertain significance	4	16025217	16025217	Human		name
126763700	CV1005164	single nucleotide variant	NM_006017.3(PROM1):c.572G>A (p.Arg191Gln)	Inborn genetic diseases [RCV004034964]\|Retinal dystrophy [RCV003888021]\|not provided [RCV001319351]	likely benign\|uncertain significance	4	16025250	16025250	Human	3	name
126760403	CV1005165	single nucleotide variant	NM_006017.3(PROM1):c.356T>G (p.Phe119Cys)	not provided [RCV001318327]	uncertain significance	4	16033457	16033457	Human		name
126743381	CV1016399	single nucleotide variant	NM_006017.3(PROM1):c.449A>G (p.Asn150Ser)	Cone-rod dystrophy 12 [RCV001330188]	uncertain significance	4	16033364	16033364	Human	1	name
126743374	CV1016400	single nucleotide variant	NM_006017.3(PROM1):c.439C>T (p.Gln147Ter)	Cone-rod dystrophy 12 [RCV001330187]	pathogenic	4	16033374	16033374	Human		name
126764442	CV1025734	single nucleotide variant	NM_006017.3(PROM1):c.728A>C (p.Asp243Ala)	not provided [RCV001341658]	uncertain significance	4	16023382	16023382	Human		name
126753465	CV1036080	single nucleotide variant	NM_006017.3(PROM1):c.380G>A (p.Gly127Glu)	Cone-rod dystrophy 12 [RCV001353023]	likely pathogenic	4	16033433	16033433	Human	1	name
126922110	CV1042653	single nucleotide variant	NM_006017.3(PROM1):c.971G>A (p.Ser324Asn)	not provided [RCV001364282]	uncertain significance	4	16018354	16018354	Human		name
126909636	CV1042654	single nucleotide variant	NM_006017.3(PROM1):c.522C>G (p.Phe174Leu)	not provided [RCV001368562]	uncertain significance	4	16025300	16025300	Human		name
126923292	CV1042655	single nucleotide variant	NM_006017.3(PROM1):c.521T>C (p.Phe174Ser)	not provided [RCV001365674]	uncertain significance	4	16025301	16025301	Human		name
126912755	CV1042656	single nucleotide variant	NM_006017.3(PROM1):c.401G>C (p.Arg134Pro)	not provided [RCV001358930]	uncertain significance	4	16033412	16033412	Human		name
126924316	CV1042657	single nucleotide variant	NM_006017.3(PROM1):c.389T>C (p.Phe130Ser)	not provided [RCV001366894]	uncertain significance	4	16033424	16033424	Human		name
127248820	CV1059997	deletion	NM_006017.3(PROM1):c.2476del (p.Asp826fs)	not provided [RCV001384986]	pathogenic	4	15980435	15980435	Human		name
127269505	CV1059998	duplication	NM_006017.3(PROM1):c.2329dup (p.Thr777fs)	PROM1-related disorder [RCV004699365]\|not provided [RCV001389543]	pathogenic	4	15984306	15984307	Human		name , alternate_id
127265122	CV1060000	deletion	NM_006017.3(PROM1):c.2215del (p.Thr739fs)	Retinal macular dystrophy type 2 [RCV003989690]\|not provided [RCV001388358]	pathogenic	4	15985825	15985825	Human	1	name
127246381	CV1060002	deletion	NM_006017.3(PROM1):c.2196del (p.Ser733fs)	not provided [RCV001384538]	pathogenic	4	15985972	15985972	Human		name
150535187	CV1306971	single nucleotide variant	NM_006017.3(PROM1):c.695G>T (p.Ser232Ile)	not provided [RCV001759025]	uncertain significance	4	16023415	16023415	Human		name
150552753	CV1307226	single nucleotide variant	NM_006017.3(PROM1):c.599A>G (p.Asp200Gly)	not provided [RCV001768338]	uncertain significance	4	16025223	16025223	Human		name
150528937	CV1307447	single nucleotide variant	NM_006017.3(PROM1):c.958A>G (p.Arg320Gly)	not provided [RCV001755584]	uncertain significance	4	16018367	16018367	Human		name
150553865	CV1308917	single nucleotide variant	NM_006017.3(PROM1):c.818T>A (p.Met273Lys)	not provided [RCV001769830]	uncertain significance	4	16018507	16018507	Human		name
151812776	CV1347194	single nucleotide variant	NM_006017.3(PROM1):c.970A>G (p.Ser324Gly)	Inborn genetic diseases [RCV004651925]\|Stargardt disease 4 [RCV005397290]\|not provided [RCV002049017]	uncertain significance	4	16018355	16018355	Human	2	name
151851313	CV1349508	single nucleotide variant	NM_006017.3(PROM1):c.673A>C (p.Lys225Gln)	not provided [RCV001958032]	uncertain significance	4	16024316	16024316	Human		name
151827899	CV1356946	single nucleotide variant	NM_006017.3(PROM1):c.478A>G (p.Ile160Val)	not provided [RCV001993418]	uncertain significance	4	16033335	16033335	Human		name
151829550	CV1362383	single nucleotide variant	NM_006017.3(PROM1):c.392G>T (p.Cys131Phe)	not provided [RCV001993579]	uncertain significance	4	16033421	16033421	Human		name
151882504	CV1364226	duplication	NM_006017.3(PROM1):c.1282dup (p.Glu428fs)	not provided [RCV001999843]	pathogenic	4	16008967	16008968	Human		name
151751110	CV1370631	single nucleotide variant	NM_006017.3(PROM1):c.895C>T (p.Arg299Trp)	Inborn genetic diseases [RCV003264138]\|not provided [RCV001872260]	uncertain significance	4	16018430	16018430	Human	1	name
151843602	CV1375654	single nucleotide variant	NM_006017.3(PROM1):c.532G>A (p.Val178Met)	Stargardt disease 4 [RCV005397215]\|not provided [RCV001995055]	uncertain significance	4	16025290	16025290	Human	1	name
151816142	CV1378839	single nucleotide variant	NM_006017.3(PROM1):c.505A>G (p.Ile169Val)	not provided [RCV001900432]	uncertain significance	4	16033308	16033308	Human		name
151850538	CV1389807	single nucleotide variant	NM_006017.3(PROM1):c.789C>G (p.Ile263Met)	Inborn genetic diseases [RCV004039866]\|not provided [RCV001937282]	uncertain significance	4	16018536	16018536	Human	1	name
151789622	CV1394267	single nucleotide variant	NM_006017.3(PROM1):c.751C>G (p.Pro251Ala)	not provided [RCV002046975]	uncertain significance	4	16023359	16023359	Human		name
151792341	CV1399302	single nucleotide variant	NM_006017.3(PROM1):c.370C>G (p.Pro124Ala)	not provided [RCV001898295]	uncertain significance	4	16033443	16033443	Human		name
151834869	CV1408503	single nucleotide variant	NM_006017.3(PROM1):c.425A>G (p.Glu142Gly)	not provided [RCV001935442]	uncertain significance	4	16033388	16033388	Human		name
151892708	CV1419046	single nucleotide variant	NM_006017.3(PROM1):c.896G>A (p.Arg299Gln)	not provided [RCV001944400]	uncertain significance	4	16018429	16018429	Human		name
151867332	CV1422598	single nucleotide variant	NM_006017.3(PROM1):c.414A>T (p.Lys138Asn)	not provided [RCV001884698]	uncertain significance	4	16033399	16033399	Human		name
151826157	CV1425829	single nucleotide variant	NM_006017.3(PROM1):c.631C>T (p.Gln211Ter)	not provided [RCV001993253]	pathogenic	4	16024358	16024358	Human		name
151755174	CV1453933	single nucleotide variant	NM_006017.3(PROM1):c.908A>G (p.Asn303Ser)	not provided [RCV001913380]	uncertain significance	4	16018417	16018417	Human		name
151807158	CV1463751	single nucleotide variant	NM_006017.3(PROM1):c.314A>G (p.Tyr105Cys)	not provided [RCV001932845]	likely pathogenic\|uncertain significance	4	16033499	16033499	Human		name
151764557	CV1468261	single nucleotide variant	NM_006017.3(PROM1):c.442A>T (p.Lys148Ter)	not provided [RCV001949537]	pathogenic	4	16033371	16033371	Human		name
151718054	CV1469248	single nucleotide variant	NM_006017.3(PROM1):c.743A>G (p.Asn248Ser)	Inborn genetic diseases [RCV004953147]\|not provided [RCV002039636]	uncertain significance	4	16023367	16023367	Human	1	name
151807687	CV1474663	single nucleotide variant	NM_006017.3(PROM1):c.848A>G (p.Gln283Arg)	Inborn genetic diseases [RCV004043467]\|not provided [RCV001932892]	uncertain significance	4	16018477	16018477	Human	1	name
151726183	CV1482233	single nucleotide variant	NM_006017.3(PROM1):c.806C>T (p.Ala269Val)	Retinal dystrophy [RCV004816929]\|not provided [RCV002020805]	uncertain significance	4	16018519	16018519	Human	2	name
151816465	CV1482537	single nucleotide variant	NM_006017.3(PROM1):c.361A>T (p.Ile121Phe)	not provided [RCV002049362]	uncertain significance	4	16033452	16033452	Human		name
151746871	CV1485266	single nucleotide variant	NM_006017.3(PROM1):c.406T>A (p.Cys136Ser)	not provided [RCV002006409]	uncertain significance	4	16033407	16033407	Human		name
151844568	CV1496358	single nucleotide variant	NM_006017.3(PROM1):c.605G>A (p.Arg202Gln)	Inborn genetic diseases [RCV004041228]\|Retinal dystrophy [RCV004815717]\|Stargardt disease 4 [RCV005038429]\|not provided [RCV001921944]	uncertain significance	4	16025217	16025217	Human	4	name
151764431	CV1499550	single nucleotide variant	NM_006017.3(PROM1):c.401G>A (p.Arg134His)	Retinal dystrophy [RCV004815661]\|not provided [RCV001863469]	uncertain significance	4	16033412	16033412	Human	2	name
151710644	CV1500629	single nucleotide variant	NM_006017.3(PROM1):c.307G>T (p.Val103Phe)	not provided [RCV002001889]	uncertain significance	4	16033506	16033506	Human		name
151731811	CV1512191	single nucleotide variant	NM_006017.3(PROM1):c.557G>A (p.Arg186Gln)	not provided [RCV002021374]	uncertain significance	4	16025265	16025265	Human		name
155664219	CV1773234	single nucleotide variant	NM_006017.3(PROM1):c.493A>G (p.Ile165Val)	not provided [RCV002296946]	uncertain significance	4	16033320	16033320	Human		name
155720615	CV1776408	single nucleotide variant	NM_006017.3(PROM1):c.935C>T (p.Ser312Leu)	not provided [RCV002296683]	uncertain significance	4	16018390	16018390	Human		name
155743276	CV1777490	single nucleotide variant	NM_006017.3(PROM1):c.752C>T (p.Pro251Leu)	not provided [RCV002302985]	uncertain significance	4	16023358	16023358	Human		name
156398548	CV1881089	single nucleotide variant	NM_006017.3(PROM1):c.893T>A (p.Leu298Gln)	Retinal dystrophy [RCV003889222]\|not provided [RCV003068907]	uncertain significance	4	16018432	16018432	Human	2	name
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]\|Stargardt disease 4 [RCV000765766]\|not provided [RCV0 ... (more) 00171375]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	16025218	16025218	Human	7	name
156363888	CV1934827	single nucleotide variant	NM_006017.3(PROM1):c.980A>G (p.Asn327Ser)	not provided [RCV002651823]	uncertain significance	4	16018345	16018345	Human		name
156436029	CV1937299	single nucleotide variant	NM_006017.3(PROM1):c.781A>G (p.Thr261Ala)	not provided [RCV003105159]	uncertain significance	4	16023329	16023329	Human		name
156449109	CV1944367	single nucleotide variant	NM_006017.3(PROM1):c.772T>A (p.Ser258Thr)	not provided [RCV003121221]	uncertain significance	4	16023338	16023338	Human		name
156447508	CV1945468	single nucleotide variant	NM_006017.3(PROM1):c.400C>G (p.Arg134Gly)	not provided [RCV003119037]	uncertain significance	4	16033413	16033413	Human		name
156072564	CV1968884	single nucleotide variant	NM_006017.3(PROM1):c.731G>C (p.Arg244Pro)	not provided [RCV002621288]	uncertain significance	4	16023379	16023379	Human		name
156229414	CV2027926	single nucleotide variant	NM_006017.3(PROM1):c.649G>A (p.Ala217Thr)	not provided [RCV002745249]	uncertain significance	4	16024340	16024340	Human		name
156259920	CV2037622	single nucleotide variant	NM_006017.3(PROM1):c.937A>G (p.Ser313Gly)	not provided [RCV002806292]	uncertain significance	4	16018388	16018388	Human		name
156236118	CV2056292	deletion	NM_006017.3(PROM1):c.2250del (p.Phe750fs)	not provided [RCV002791179]	pathogenic	4	15985790	15985790	Human		name
156088816	CV2056865	duplication	NM_006017.3(PROM1):c.1817dup (p.Asn606fs)	not provided [RCV002824108]	pathogenic	4	15992341	15992342	Human		name
156267818	CV2059691	single nucleotide variant	NM_006017.3(PROM1):c.429G>T (p.Met143Ile)	not provided [RCV002806554]	uncertain significance	4	16033384	16033384	Human		name
8558811	CV20647	deletion	NM_006017.3(PROM1):c.1841del (p.Gly614fs)	Retinitis pigmentosa 41 [RCV000005958]	pathogenic	4	15992318	15992318	Human	1	name
156315799	CV2071009	single nucleotide variant	NM_006017.3(PROM1):c.347G>T (p.Gly116Val)	not provided [RCV002834392]	uncertain significance	4	16033466	16033466	Human		name
155998511	CV2074476	single nucleotide variant	NM_006017.3(PROM1):c.859C>T (p.Leu287Phe)	not provided [RCV002843296]	uncertain significance	4	16018466	16018466	Human		name
156206193	CV2076722	duplication	NM_006017.3(PROM1):c.1187dup (p.Thr397fs)	not provided [RCV002852650]	pathogenic	4	16009062	16009063	Human		name
156053756	CV2093621	deletion	NM_006017.3(PROM1):c.1539del (p.Lys513fs)	not provided [RCV002867870]	pathogenic	4	16000535	16000535	Human		name
156339071	CV2106703	single nucleotide variant	NM_006017.3(PROM1):c.782C>T (p.Thr261Ile)	not provided [RCV002938796]	uncertain significance	4	16023328	16023328	Human		name
155988749	CV2151089	single nucleotide variant	NM_006017.3(PROM1):c.880G>C (p.Val294Leu)	not provided [RCV003016721]	uncertain significance	4	16018445	16018445	Human		name
156310570	CV2164034	single nucleotide variant	NM_006017.3(PROM1):c.341T>A (p.Val114Asp)	not provided [RCV003046005]	uncertain significance	4	16033472	16033472	Human		name
156214129	CV2176486	single nucleotide variant	NM_006017.3(PROM1):c.510C>A (p.Ser170Arg)	not provided [RCV003024926]	uncertain significance	4	16025312	16025312	Human		name
156240989	CV2177123	single nucleotide variant	NM_006017.3(PROM1):c.770A>G (p.Lys257Arg)	not provided [RCV003043442]	uncertain significance	4	16023340	16023340	Human		name
156235099	CV2180697	single nucleotide variant	NM_006017.3(PROM1):c.614T>C (p.Leu205Ser)	not provided [RCV003043236]	uncertain significance	4	16025208	16025208	Human		name
156040407	CV2187885	deletion	NM_006017.3(PROM1):c.2409del (p.Leu805fs)	not provided [RCV003036546]	pathogenic	4	15980502	15980502	Human		name
155967949	CV2216936	single nucleotide variant	NM_006017.3(PROM1):c.660C>G (p.Asn220Lys)	Inborn genetic diseases [RCV002687238]\|not provided [RCV003720655]	uncertain significance	4	16024329	16024329	Human	1	name
155969587	CV2262130	single nucleotide variant	NM_006017.3(PROM1):c.442A>G (p.Lys148Glu)	Inborn genetic diseases [RCV002817581]	uncertain significance	4	16033371	16033371	Human	1	name
156284904	CV2317588	single nucleotide variant	NM_006017.3(PROM1):c.904C>G (p.Leu302Val)	Inborn genetic diseases [RCV002935177]	uncertain significance	4	16018421	16018421	Human	1	name
11351157	CV238016	deletion	NM_006017.3(PROM1):c.2309del (p.Pro770fs)	Cone-rod dystrophy 12 [RCV001542528]\|Retinal dystrophy [RCV000225433]	likely pathogenic	4	15984327	15984327	Human	3	name
11345554	CV238017	deletion	NM_006017.3(PROM1):c.1697del (p.Asn566fs)	Retinal dystrophy [RCV000225407]	pathogenic\|likely pathogenic	4	15994057	15994057	Human	2	name
329373200	CV2455946	single nucleotide variant	NM_006017.3(PROM1):c.823A>G (p.Ser275Gly)	Inborn genetic diseases [RCV003210367]	uncertain significance	4	16018502	16018502	Human	1	name
329396247	CV2462458	single nucleotide variant	NM_006017.3(PROM1):c.749T>C (p.Ile250Thr)	Inborn genetic diseases [RCV003194868]\|not provided [RCV005101310]	uncertain significance	4	16023361	16023361	Human	1	name
11526095	CV246963	single nucleotide variant	NM_006017.3(PROM1):c.914C>T (p.Pro305Leu)	not provided [RCV001056391]\|not specified [RCV000239347]	pathogenic\|likely benign\|uncertain significance	4	16018411	16018411	Human		name
329846575	CV2523795	deletion	NM_006017.3(PROM1):c.2118del (p.Asn707fs)	Cone-rod dystrophy 12 [RCV003226085]	likely pathogenic	4	15987675	15987675	Human	1	name
11579427	CV273551	single nucleotide variant	NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)	Cone-rod dystrophy 12 [RCV000361771]\|PROM1-related disorder [RCV004535428]\|Retinal dystrophy [RCV003888691]\|Retinal macular dystrophy type 2 [RCV000365161]\|Retinitis pigmentosa [RCV000303463]\|Stargardt disease 4 [RCV000400435]\|not provided [RCV000950665]\|not spe ... (more) cified [RCV000313919]	benign\|likely benign\|uncertain significance	4	16018457	16018457	Human	7	name , alternate_id
402499179	CV2922819	single nucleotide variant	NM_006017.3(PROM1):c.439C>G (p.Gln147Glu)	not provided [RCV003573812]	uncertain significance	4	16033374	16033374	Human		name
11589084	CV292711	single nucleotide variant	NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)	Cone-rod dystrophy 12 [RCV000398824]\|Retinal dystrophy [RCV003888826]\|Retinal macular dystrophy type 2 [RCV000347822]\|Retinitis pigmentosa [RCV000369682]\|Stargardt disease 4 [RCV000308028]\|not provided [RCV001300200]	likely benign\|uncertain significance	4	16023379	16023379	Human	7	name
402503916	CV2933467	single nucleotide variant	NM_006017.3(PROM1):c.369G>A (p.Met123Ile)	not provided [RCV003574276]	uncertain significance	4	16033444	16033444	Human		name
405072373	CV2941140	single nucleotide variant	NM_006017.3(PROM1):c.371C>T (p.Pro124Leu)	not provided [RCV003664057]	uncertain significance	4	16033442	16033442	Human		name
405166488	CV2954680	single nucleotide variant	NM_006017.3(PROM1):c.736A>G (p.Arg246Gly)	not provided [RCV003675077]	uncertain significance	4	16023374	16023374	Human		name
405127646	CV2957153	single nucleotide variant	NM_006017.3(PROM1):c.544C>T (p.Gln182Ter)	not provided [RCV003672112]	pathogenic	4	16025278	16025278	Human		name
11582801	CV297520	single nucleotide variant	NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)	Cone-rod dystrophy 12 [RCV000311752]\|Inborn genetic diseases [RCV004649137]\|Retinal macular dystrophy type 2 [RCV000262406]\|Retinitis pigmentosa [RCV000277700]\|Stargardt disease 4 [RCV000368672]\|not provided [RCV001350400]	uncertain significance	4	16023392	16023392	Human	6	name
11585608	CV297564	single nucleotide variant	NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)	Cone-rod dystrophy 12 [RCV000399717]\|PROM1-related disorder [RCV004530408]\|Retinal dystrophy [RCV003888825]\|Retinal macular dystrophy type 2 [RCV000335053]\|Retinitis pigmentosa [RCV000304480]\|Stargardt disease 4 [RCV000282344]\|not provided [RCV002057919]	benign\|likely benign\|uncertain significance	4	16018362	16018362	Human	7	name , alternate_id
11583649	CV297594	single nucleotide variant	NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)	Cone-rod dystrophy 12 [RCV000268102]\|Retinal macular dystrophy type 2 [RCV000360430]\|Retinitis pigmentosa [RCV000298692]\|Stargardt disease 4 [RCV000390262]\|not provided [RCV001861231]	uncertain significance	4	16025266	16025266	Human	5	name
405248289	CV2977836	deletion	NM_006017.3(PROM1):c.1744del (p.Ser582fs)	not provided [RCV003721058]	pathogenic	4	15994010	15994010	Human		name
405208348	CV3117160	single nucleotide variant	NM_006017.3(PROM1):c.671A>G (p.Asp224Gly)	not provided [RCV003822947]	uncertain significance	4	16024318	16024318	Human		name
405198918	CV3164521	single nucleotide variant	NM_006017.3(PROM1):c.554C>T (p.Thr185Ile)	not provided [RCV003860578]	uncertain significance	4	16025268	16025268	Human		name
405264349	CV3187940	deletion	NM_006017.3(PROM1):c.1926del (p.Ala643fs)	Retinal dystrophy [RCV003890886]	pathogenic	4	15991279	15991279	Human	2	name
405264365	CV3187950	single nucleotide variant	NM_006017.3(PROM1):c.910G>A (p.Asp304Asn)	Retinal dystrophy [RCV003890896]	uncertain significance	4	16018415	16018415	Human	2	name
405264367	CV3187951	single nucleotide variant	NM_006017.3(PROM1):c.719G>T (p.Gly240Val)	Retinal dystrophy [RCV003890897]	uncertain significance	4	16023391	16023391	Human	2	name
405264369	CV3187952	single nucleotide variant	NM_006017.3(PROM1):c.718G>T (p.Gly240Ter)	Retinal dystrophy [RCV003890898]	uncertain significance	4	16023392	16023392	Human	2	name
405264370	CV3187953	single nucleotide variant	NM_006017.3(PROM1):c.676G>A (p.Ala226Thr)	Retinal dystrophy [RCV003890899]	uncertain significance	4	16024313	16024313	Human	2	name
405795470	CV3377368	single nucleotide variant	NM_006017.3(PROM1):c.638A>G (p.Lys213Arg)	Inborn genetic diseases [RCV004507380]\|not provided [RCV005104842]	uncertain significance	4	16024351	16024351	Human	1	name
405795473	CV3377369	single nucleotide variant	NM_006017.3(PROM1):c.817A>G (p.Met273Val)	Inborn genetic diseases [RCV004507381]	likely benign	4	16018508	16018508	Human	1	name
596939076	CV3407631	single nucleotide variant	NM_006017.3(PROM1):c.785C>T (p.Ala262Val)	Retinal dystrophy [RCV004814091]	uncertain significance	4	16018540	16018540	Human	2	name
596939657	CV3407993	deletion	NM_006017.3(PROM1):c.1612del (p.Trp538fs)	Retinal dystrophy [RCV004814453]	pathogenic	4	15998455	15998455	Human	2	name
407465879	CV3461159	single nucleotide variant	NM_006017.3(PROM1):c.459C>G (p.Phe153Leu)	Inborn genetic diseases [RCV004660344]	uncertain significance	4	16033354	16033354	Human	1	name
407513433	CV3461164	single nucleotide variant	NM_006017.3(PROM1):c.367A>T (p.Met123Leu)	Inborn genetic diseases [RCV004648822]	uncertain significance	4	16033446	16033446	Human	1	name
408370101	CV3502993	single nucleotide variant	NM_006017.3(PROM1):c.413A>G (p.Lys138Arg)	not provided [RCV004724114]	uncertain significance	4	16033400	16033400	Human		name
408394130	CV3521737	deletion	NM_006017.3(PROM1):c.2366del (p.Asp789fs)	Retinal macular dystrophy type 2 [RCV004764536]	likely pathogenic	4	15984270	15984270	Human	1	name
597695180	CV3588116	single nucleotide variant	NM_006017.3(PROM1):c.611T>G (p.Leu204Arg)	Inborn genetic diseases [RCV004954713]\|not provided [RCV005107756]	uncertain significance	4	16025211	16025211	Human	1	name
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 [R ... (more) CV001003127]\|Stargardt disease [RCV002467446]\|not provided [RCV000413568]	pathogenic\|likely pathogenic	4	16006637	16006638	Human	11	name , alternate_id
597917940	CV3737774	single nucleotide variant	NM_006017.3(PROM1):c.583G>C (p.Asp195His)	not provided [RCV005074373]	uncertain significance	4	16025239	16025239	Human		name
597919647	CV3737986	single nucleotide variant	NM_006017.3(PROM1):c.683C>T (p.Thr228Ile)	not provided [RCV005074585]	uncertain significance	4	16024306	16024306	Human		name
597878058	CV3744331	single nucleotide variant	NM_006017.3(PROM1):c.953G>A (p.Ser318Asn)	not provided [RCV005069545]	uncertain significance	4	16018372	16018372	Human		name
597848693	CV3746504	single nucleotide variant	NM_006017.3(PROM1):c.499A>G (p.Ile167Val)	not provided [RCV005060323]	uncertain significance	4	16033314	16033314	Human		name
597910164	CV3749592	single nucleotide variant	NM_006017.3(PROM1):c.524A>C (p.Tyr175Ser)	not provided [RCV005073440]	uncertain significance	4	16025298	16025298	Human		name
597940006	CV3760592	single nucleotide variant	NM_006017.3(PROM1):c.559A>C (p.Ile187Leu)	not provided [RCV005077319]	uncertain significance	4	16025263	16025263	Human		name
597967616	CV3760686	single nucleotide variant	NM_006017.3(PROM1):c.424G>C (p.Glu142Gln)	not provided [RCV005083253]	uncertain significance	4	16033389	16033389	Human		name
597870561	CV3768193	deletion	NM_006017.3(PROM1):c.2058del (p.Pro687fs)	not provided [RCV005122572]	pathogenic	4	15989750	15989750	Human		name
597869935	CV3771959	single nucleotide variant	NM_006017.3(PROM1):c.773C>T (p.Ser258Phe)	not provided [RCV005122469]	uncertain significance	4	16023337	16023337	Human		name
597877767	CV3776194	single nucleotide variant	NM_006017.3(PROM1):c.877A>G (p.Ser293Gly)	not provided [RCV005123722]	uncertain significance	4	16018448	16018448	Human		name
597898910	CV3782632	single nucleotide variant	NM_006017.3(PROM1):c.779C>T (p.Ala260Val)	not provided [RCV005126857]	uncertain significance	4	16023331	16023331	Human		name
597963883	CV3792063	single nucleotide variant	NM_006017.3(PROM1):c.598G>A (p.Asp200Asn)	not provided [RCV005139619]	uncertain significance	4	16025224	16025224	Human		name
597953276	CV3795500	single nucleotide variant	NM_006017.3(PROM1):c.875C>T (p.Thr292Ile)	not provided [RCV005136510]	uncertain significance	4	16018450	16018450	Human		name
597955785	CV3796316	single nucleotide variant	NM_006017.3(PROM1):c.965C>G (p.Ser322Cys)	not provided [RCV005137133]	uncertain significance	4	16018360	16018360	Human		name
597856888	CV3816642	single nucleotide variant	NM_006017.3(PROM1):c.437G>A (p.Arg146Gln)	not provided [RCV005146215]	uncertain significance	4	16033376	16033376	Human		name
597940167	CV3818797	single nucleotide variant	NM_006017.3(PROM1):c.850A>C (p.Ser284Arg)	not provided [RCV005158803]	uncertain significance	4	16018475	16018475	Human		name
597927111	CV3836877	single nucleotide variant	NM_006017.3(PROM1):c.338G>A (p.Cys113Tyr)	not provided [RCV005185228]	uncertain significance	4	16033475	16033475	Human		name
597910418	CV3854204	single nucleotide variant	NM_006017.3(PROM1):c.303G>T (p.Lys101Asn)	not provided [RCV005203473]	uncertain significance	4	16035735	16035735	Human		name
13434934	CV431670	single nucleotide variant	NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)	Cone-rod dystrophy 12 [RCV003236584]\|Retinal dystrophy [RCV000504621]\|not provided [RCV001857223]	pathogenic	4	16023380	16023380	Human	3	name
13435130	CV431671	single nucleotide variant	NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)	Retinal dystrophy [RCV000504986]\|Retinitis pigmentosa 41 [RCV000987427]\|not provided [RCV001865639]	pathogenic	4	16033377	16033377	Human	3	name
13521935	CV491866	deletion	NM_006017.3(PROM1):c.1234del (p.Tyr412fs)	PROM1-related disorder [RCV004530703]\|Retinal dystrophy [RCV001074705]\|not provided [RCV000591097]	pathogenic\|likely pathogenic	4	16009016	16009016	Human	2	name , alternate_id
13523232	CV493429	single nucleotide variant	NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys)	Inborn genetic diseases [RCV005260236]\|not provided [RCV000592738]\|not specified [RCV001000733]	likely benign\|uncertain significance	4	16025298	16025298	Human	1	name
13706341	CV537450	single nucleotide variant	NM_006017.3(PROM1):c.533T>C (p.Val178Ala)	not provided [RCV000658994]	uncertain significance	4	16025289	16025289	Human		name
21071299	CV790457	single nucleotide variant	NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)	Cone-rod dystrophy 12 [RCV001198630]\|Retinitis pigmentosa 41 [RCV000987425]\|not provided [RCV001383311]	pathogenic\|likely pathogenic	4	16024337	16024337	Human	2	name
21068796	CV795555	single nucleotide variant	NM_006017.3(PROM1):c.677C>T (p.Ala226Val)	Cone-rod dystrophy 12 [RCV001147962]\|Retinal macular dystrophy type 2 [RCV001149511]\|Retinitis pigmentosa [RCV001147963]\|Stargardt disease 4 [RCV001147961]\|not provided [RCV000998230]	conflicting interpretations of pathogenicity\|uncertain significance	4	16024312	16024312	Human	5	name
21406303	CV799346	single nucleotide variant	NM_006017.3(PROM1):c.400C>T (p.Arg134Cys)	Stargardt disease 4 [RCV001199381]\|not specified [RCV001002450]	pathogenic\|uncertain significance	4	16033413	16033413	Human	1	name
28892899	CV801362	duplication	NM_006017.3(PROM1):c.2414dup (p.Leu805fs)	Retinitis pigmentosa [RCV001199724]\|not provided [RCV001092552]	pathogenic	4	15980496	15980497	Human	2	name
26894643	CV828935	duplication	NM_006017.3(PROM1):c.1276dup (p.Thr426fs)	not provided [RCV001063591]	pathogenic\|conflicting interpretations of pathogenicity	4	16008973	16008974	Human		name
26899844	CV828939	single nucleotide variant	NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter)	Cone-rod dystrophy 12 [RCV003883533]\|Cone-rod dystrophy [RCV003324549]\|Retinal dystrophy [RCV001075595]\|not provided [RCV001037546]	pathogenic	4	16024347	16024347	Human	6	name
26910752	CV856321	duplication	NM_006017.3(PROM1):c.1697dup (p.Asn566fs)	Retinal dystrophy [RCV001075408]\|not provided [RCV001862849]	pathogenic	4	15994056	15994057	Human	2	name
26910538	CV856326	single nucleotide variant	NM_006017.3(PROM1):c.879C>A (p.Ser293Arg)	Retinal dystrophy [RCV001075103]\|not provided [RCV001862843]	uncertain significance	4	16018446	16018446	Human	2	name
26910783	CV856327	single nucleotide variant	NM_006017.3(PROM1):c.562A>G (p.Lys188Glu)	Retinal dystrophy [RCV001075458]\|not provided [RCV001318959]	uncertain significance	4	16025260	16025260	Human	2	name
26910557	CV856328	microsatellite	NM_006017.3(PROM1):c.77_78del (p.Thr26fs)	Retinal dystrophy [RCV001075126]	likely pathogenic	4	16075829	16075830	Human		name
28874128	CV890383	single nucleotide variant	NM_006017.3(PROM1):c.706G>A (p.Val236Met)	Cone-rod dystrophy 12 [RCV001147065]\|Retinal dystrophy [RCV003890302]\|Retinal macular dystrophy type 2 [RCV001147960]\|Retinitis pigmentosa [RCV001147064]\|Stargardt disease 4 [RCV001147066]\|not provided [RCV001234845]	likely benign\|uncertain significance	4	16023404	16023404	Human	7	name
28870091	CV890384	single nucleotide variant	NM_006017.3(PROM1):c.380G>T (p.Gly127Val)	Cone-rod dystrophy 12 [RCV001145211]\|Retinal macular dystrophy type 2 [RCV001145212]\|Retinitis pigmentosa [RCV001145210]\|Stargardt disease 4 [RCV001147172]	uncertain significance	4	16033433	16033433	Human	5	name
28874365	CV890385	single nucleotide variant	NM_006017.3(PROM1):c.376G>A (p.Val126Met)	Cone-rod dystrophy 12 [RCV001147176]\|Retinal dystrophy [RCV004813803]\|Retinal macular dystrophy type 2 [RCV001147175]\|Retinitis pigmentosa [RCV001147174]\|Stargardt disease 4 [RCV001147173]\|not provided [RCV001241210]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	16033437	16033437	Human	7	name
38467976	CV920468	single nucleotide variant	NM_006017.3(PROM1):c.734T>C (p.Leu245Pro)	Stargardt disease 4 [RCV001199380]	pathogenic	4	16023376	16023376	Human	1	name
38489738	CV923457	single nucleotide variant	NM_006017.3(PROM1):c.731G>T (p.Arg244Leu)	not provided [RCV001221834]	uncertain significance	4	16023379	16023379	Human		name
38477102	CV932243	deletion	NM_006017.3(PROM1):c.1500del (p.Ile500fs)	Retinitis pigmentosa 41 [RCV001587222]\|not provided [RCV001204940]	pathogenic	4	16000574	16000574	Human	1	name
38469806	CV943887	single nucleotide variant	NM_006017.3(PROM1):c.383A>G (p.Tyr128Cys)	not provided [RCV001230833]	uncertain significance	4	16033430	16033430	Human		name
38469796	CV943888	single nucleotide variant	NM_006017.3(PROM1):c.335G>A (p.Cys112Tyr)	not provided [RCV001230832]	uncertain significance	4	16033478	16033478	Human		name
38493086	CV953722	single nucleotide variant	NM_006017.3(PROM1):c.847C>A (p.Gln283Lys)	not provided [RCV001240496]	uncertain significance	4	16018478	16018478	Human		name
126760872	CV990006	single nucleotide variant	NM_006017.3(PROM1):c.835A>G (p.Ser279Gly)	not provided [RCV001309434]	uncertain significance	4	16018490	16018490	Human		name
126730362	CV990007	single nucleotide variant	NM_006017.3(PROM1):c.661A>C (p.Thr221Pro)	not provided [RCV001303720]	uncertain significance	4	16024328	16024328	Human		name
126766931	CV990008	single nucleotide variant	NM_006017.3(PROM1):c.559A>G (p.Ile187Val)	Inborn genetic diseases [RCV004036224]\|not provided [RCV001302085]	uncertain significance	4	16025263	16025263	Human	1	name
126767364	CV990009	single nucleotide variant	NM_006017.3(PROM1):c.475G>A (p.Ala159Thr)	not provided [RCV001302254]	uncertain significance	4	16033338	16033338	Human		name
126730309	CV990010	single nucleotide variant	NM_006017.3(PROM1):c.323G>A (p.Gly108Glu)	not provided [RCV001303713]	uncertain significance	4	16033490	16033490	Human		name
126725868	CV990011	single nucleotide variant	NM_006017.3(PROM1):c.313T>C (p.Tyr105His)	not provided [RCV001302710]	uncertain significance	4	16033500	16033500	Human		name
8642247	CV101231	single nucleotide variant	NM_006017.3(PROM1):c.2320G>A (p.Ala774Thr)	not provided [RCV000081349]	uncertain significance	4	15984316	15984316	Human		name
126764530	CV1025726	single nucleotide variant	NM_006017.3(PROM1):c.1656G>A (p.Met552Ile)	not provided [RCV001341688]	uncertain significance	4	15998411	15998411	Human		name
126919182	CV1042648	single nucleotide variant	NM_006017.3(PROM1):c.1834G>C (p.Ala612Pro)	not provided [RCV001373086]	uncertain significance	4	15992325	15992325	Human		name
8646937	CV106454	single nucleotide variant	NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)	Cone-rod dystrophy 12 [RCV002288584]\|PROM1-related disorder [RCV004734647]\|Retinal dystrophy [RCV000504778]\|not provided [RCV000086959]	pathogenic\|not provided	4	16000517	16000517	Human	3	name , alternate_id
150453711	CV1203875	single nucleotide variant	NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter)	Retinitis pigmentosa 41 [RCV001591824]\|not provided [RCV002569129]	pathogenic\|likely pathogenic	4	15991249	15991249	Human	1	name
150532534	CV1306808	single nucleotide variant	NM_006017.3(PROM1):c.1739A>G (p.Asn580Ser)	not provided [RCV001757806]	uncertain significance	4	15994015	15994015	Human		name
151235417	CV1318713	single nucleotide variant	NM_006017.3(PROM1):c.1302G>A (p.Trp434Ter)	not provided [RCV001795530]	pathogenic	4	16006690	16006690	Human		name
151348701	CV1324171	single nucleotide variant	NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter)	Retinitis pigmentosa 41 [RCV001808087]	likely pathogenic	4	15985959	15985959	Human	1	name
151881193	CV1339521	single nucleotide variant	NM_006017.3(PROM1):c.1525G>A (p.Ala509Thr)	not provided [RCV001999598]	uncertain significance	4	16000549	16000549	Human		name
151793736	CV1340973	single nucleotide variant	NM_006017.3(PROM1):c.1906G>T (p.Ala636Ser)	not provided [RCV001931664]	uncertain significance	4	15992253	15992253	Human		name
151799601	CV1347631	single nucleotide variant	NM_006017.3(PROM1):c.1042G>A (p.Val348Ile)	Inborn genetic diseases [RCV002549001]\|not provided [RCV002027963]	likely benign\|uncertain significance	4	16016201	16016201	Human	1	name
151823950	CV1349483	single nucleotide variant	NM_006017.3(PROM1):c.1526C>A (p.Ala509Glu)	not provided [RCV001934419]	uncertain significance	4	16000548	16000548	Human		name
151759055	CV1349919	single nucleotide variant	NM_006017.3(PROM1):c.1559C>T (p.Thr520Met)	not provided [RCV001987048]	uncertain significance	4	16000515	16000515	Human		name
151885483	CV1350999	single nucleotide variant	NM_006017.3(PROM1):c.1441G>T (p.Val481Phe)	not provided [RCV001887364]	uncertain significance	4	16006551	16006551	Human		name
151854665	CV1353744	single nucleotide variant	NM_006017.3(PROM1):c.1147A>G (p.Lys383Glu)	not provided [RCV001979379]	uncertain significance	4	16009103	16009103	Human		name
151715668	CV1355306	single nucleotide variant	NM_006017.3(PROM1):c.2408T>C (p.Val803Ala)	not provided [RCV001965179]	uncertain significance	4	15980503	15980503	Human		name
151865275	CV1357670	single nucleotide variant	NM_006017.3(PROM1):c.1486A>G (p.Ile496Val)	not provided [RCV001905806]	uncertain significance	4	16000588	16000588	Human		name
151827014	CV1359862	single nucleotide variant	NM_006017.3(PROM1):c.1711G>A (p.Gly571Ser)	not provided [RCV002050345]	uncertain significance	4	15994043	15994043	Human		name
151808683	CV1362811	single nucleotide variant	NM_006017.3(PROM1):c.2198C>T (p.Ser733Phe)	not provided [RCV001991615]	uncertain significance	4	15985970	15985970	Human		name
151812514	CV1367512	single nucleotide variant	NM_006017.3(PROM1):c.1327T>C (p.Ser443Pro)	not provided [RCV001878413]	uncertain significance	4	16006665	16006665	Human		name
151876527	CV1372864	single nucleotide variant	NM_006017.3(PROM1):c.2104C>G (p.Leu702Val)	not provided [RCV002019606]	uncertain significance	4	15987689	15987689	Human		name
151719617	CV1373809	single nucleotide variant	NM_006017.3(PROM1):c.1697A>G (p.Asn566Ser)	not provided [RCV001890884]	uncertain significance	4	15994057	15994057	Human		name
151876007	CV1376388	single nucleotide variant	NM_006017.3(PROM1):c.1105G>A (p.Asp369Asn)	not provided [RCV002019544]	uncertain significance	4	16013311	16013311	Human		name
151854004	CV1376418	single nucleotide variant	NM_006017.3(PROM1):c.1712G>A (p.Gly571Asp)	not provided [RCV001996313]	uncertain significance	4	15994042	15994042	Human		name
151776857	CV1379195	single nucleotide variant	NM_006017.3(PROM1):c.2062A>G (p.Ile688Val)	Retinal dystrophy [RCV003888893]\|not provided [RCV001896873]	uncertain significance	4	15989746	15989746	Human	2	name
151850638	CV1385952	single nucleotide variant	NM_006017.3(PROM1):c.1406C>T (p.Pro469Leu)	Inborn genetic diseases [RCV004039867]\|not provided [RCV001937293]	uncertain significance	4	16006586	16006586	Human	1	name
151728166	CV1388587	single nucleotide variant	NM_006017.3(PROM1):c.1603A>C (p.Asn535His)	not provided [RCV001966838]	uncertain significance	4	15998464	15998464	Human		name
151714863	CV1388780	single nucleotide variant	NM_006017.3(PROM1):c.1939C>T (p.Leu647Phe)	not provided [RCV002002732]	uncertain significance	4	15991266	15991266	Human		name
151859079	CV1389542	single nucleotide variant	NM_006017.3(PROM1):c.1922C>T (p.Ser641Phe)	not provided [RCV001905053]	uncertain significance	4	15991283	15991283	Human		name
151733366	CV1397868	single nucleotide variant	NM_006017.3(PROM1):c.2515A>G (p.Met839Val)	not provided [RCV002005010]	uncertain significance	4	15979462	15979462	Human		name
151775278	CV1402540	single nucleotide variant	NM_006017.3(PROM1):c.1150A>G (p.Arg384Gly)	not provided [RCV001929918]	uncertain significance	4	16009100	16009100	Human		name
151713544	CV1405225	single nucleotide variant	NM_006017.3(PROM1):c.1287G>C (p.Glu429Asp)	not provided [RCV001889871]	uncertain significance	4	16008963	16008963	Human		name
151880647	CV1405937	single nucleotide variant	NM_006017.3(PROM1):c.1189A>C (p.Thr397Pro)	not provided [RCV001940975]	uncertain significance	4	16009061	16009061	Human		name
151753123	CV1407247	single nucleotide variant	NM_006017.3(PROM1):c.1204A>C (p.Ile402Leu)	not provided [RCV002023594]	uncertain significance	4	16009046	16009046	Human		name
151843896	CV1408827	single nucleotide variant	NM_006017.3(PROM1):c.1135G>A (p.Val379Ile)	not provided [RCV002015668]	uncertain significance	4	16013281	16013281	Human		name
151771019	CV1410855	single nucleotide variant	NM_006017.3(PROM1):c.2458C>T (p.Arg820Cys)	Retinal dystrophy [RCV004816860]\|not provided [RCV001971184]	uncertain significance	4	15980453	15980453	Human	2	name
151795484	CV1411049	single nucleotide variant	NM_006017.3(PROM1):c.2092A>G (p.Ser698Gly)	not provided [RCV001973439]	uncertain significance	4	15987701	15987701	Human		name
151879856	CV1411154	single nucleotide variant	NM_006017.3(PROM1):c.1276A>G (p.Thr426Ala)	not provided [RCV002019996]	uncertain significance	4	16008974	16008974	Human		name
151773536	CV1417159	single nucleotide variant	NM_006017.3(PROM1):c.2296G>A (p.Ala766Thr)	PROM1-related disorder [RCV004543671]\|not provided [RCV001971411]	uncertain significance	4	15984340	15984340	Human		name , alternate_id
151792217	CV1422885	single nucleotide variant	NM_006017.3(PROM1):c.1768C>T (p.His590Tyr)	not provided [RCV001916931]	uncertain significance	4	15992391	15992391	Human		name
151868432	CV1426034	single nucleotide variant	NM_006017.3(PROM1):c.1946C>A (p.Ser649Ter)	not provided [RCV002035347]	pathogenic	4	15991259	15991259	Human		name
151817645	CV1427465	single nucleotide variant	NM_006017.3(PROM1):c.1052C>T (p.Thr351Ile)	not provided [RCV001878906]	uncertain significance	4	16016191	16016191	Human		name
151773609	CV1427825	single nucleotide variant	NM_006017.3(PROM1):c.2593C>A (p.His865Asn)	not provided [RCV001915216]	uncertain significance	4	15971072	15971072	Human		name
151884182	CV1428567	single nucleotide variant	NM_006017.3(PROM1):c.1301G>A (p.Trp434Ter)	not provided [RCV002000216]	pathogenic	4	16008949	16008949	Human		name
151884745	CV1428847	single nucleotide variant	NM_006017.3(PROM1):c.1022A>G (p.Glu341Gly)	Inborn genetic diseases [RCV004956058]\|not provided [RCV002000341]	uncertain significance	4	16016221	16016221	Human	1	name
151710109	CV1433595	single nucleotide variant	NM_006017.3(PROM1):c.1863T>G (p.Phe621Leu)	not provided [RCV002001781]	uncertain significance	4	15992296	15992296	Human		name
151872093	CV1435131	single nucleotide variant	NM_006017.3(PROM1):c.2258A>G (p.Tyr753Cys)	not provided [RCV001939945]	uncertain significance	4	15985782	15985782	Human		name
151842886	CV1438430	single nucleotide variant	NM_006017.3(PROM1):c.1760T>C (p.Ile587Thr)	not provided [RCV001921745]	uncertain significance	4	15993994	15993994	Human		name
151814973	CV1444586	single nucleotide variant	NM_006017.3(PROM1):c.1569A>C (p.Glu523Asp)	not provided [RCV001933579]	uncertain significance	4	16000505	16000505	Human		name
151834068	CV1446749	single nucleotide variant	NM_006017.3(PROM1):c.2049A>T (p.Gln683His)	not provided [RCV002031097]	uncertain significance	4	15989759	15989759	Human		name
151708858	CV1448913	single nucleotide variant	NM_006017.3(PROM1):c.1385G>T (p.Gly462Val)	not provided [RCV001963879]	uncertain significance	4	16006607	16006607	Human		name
151761443	CV1459681	single nucleotide variant	NM_006017.3(PROM1):c.1163C>A (p.Ser388Tyr)	not provided [RCV002044326]	uncertain significance	4	16009087	16009087	Human		name
151803003	CV1462497	single nucleotide variant	NM_006017.3(PROM1):c.1450A>G (p.Met484Val)	Stargardt disease 4 [RCV002486592]\|not provided [RCV002028275]	uncertain significance	4	16006542	16006542	Human	1	name
151828649	CV1468594	single nucleotide variant	NM_006017.3(PROM1):c.1178T>G (p.Ile393Ser)	not provided [RCV002030582]	uncertain significance	4	16009072	16009072	Human		name
151748443	CV1478838	single nucleotide variant	NM_006017.3(PROM1):c.1085A>G (p.Gln362Arg)	not provided [RCV002023110]	uncertain significance	4	16013331	16013331	Human		name
151877725	CV1481114	single nucleotide variant	NM_006017.3(PROM1):c.1033G>A (p.Val345Ile)	not provided [RCV001982118]	uncertain significance	4	16016210	16016210	Human		name
151867764	CV1493728	single nucleotide variant	NM_006017.3(PROM1):c.1660C>G (p.Leu554Val)	not provided [RCV001960036]	uncertain significance	4	15998407	15998407	Human		name
151723376	CV1494539	single nucleotide variant	NM_006017.3(PROM1):c.2296G>T (p.Ala766Ser)	not provided [RCV001983381]	uncertain significance	4	15984340	15984340	Human		name
151814890	CV1507439	single nucleotide variant	NM_006017.3(PROM1):c.1591C>T (p.Pro531Ser)	not provided [RCV001954184]	uncertain significance	4	15998476	15998476	Human		name
151854282	CV1511145	single nucleotide variant	NM_006017.3(PROM1):c.2213A>C (p.Glu738Ala)	Inborn genetic diseases [RCV004956011]\|not provided [RCV001979335]	uncertain significance	4	15985827	15985827	Human	1	name
151873656	CV1511308	single nucleotide variant	NM_006017.3(PROM1):c.1615G>A (p.Glu539Lys)	not provided [RCV001960770]	uncertain significance	4	15998452	15998452	Human		name
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	name
151789520	CV1515243	single nucleotide variant	NM_006017.3(PROM1):c.1651A>G (p.Lys551Glu)	Retinal dystrophy [RCV004816931]\|not provided [RCV002027084]	uncertain significance	4	15998416	15998416	Human	2	name
151870678	CV1515655	single nucleotide variant	NM_006017.3(PROM1):c.1789G>A (p.Glu597Lys)	not provided [RCV001981258]	uncertain significance	4	15992370	15992370	Human		name
155642974	CV1707615	single nucleotide variant	NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter)	Cone-rod dystrophy 12 [RCV002289076]	pathogenic	4	15992257	15992257	Human	1	name
155645576	CV1708976	single nucleotide variant	NM_006017.3(PROM1):c.1494G>C (p.Met498Ile)	not provided [RCV002291852]	uncertain significance	4	16000580	16000580	Human		name
9693244	CV176960	single nucleotide variant	NM_006017.3(PROM1):c.1090C>T (p.Leu364Phe)	PROM1-related disorder [RCV004734721]\|not provided [RCV000153772]	uncertain significance	4	16013326	16013326	Human		name , alternate_id
155735895	CV1774474	single nucleotide variant	NM_006017.3(PROM1):c.1965A>C (p.Glu655Asp)	not provided [RCV002301930]	uncertain significance	4	15991240	15991240	Human		name
155705158	CV1774942	single nucleotide variant	NM_006017.3(PROM1):c.2407G>T (p.Val803Leu)	not provided [RCV002300183]	uncertain significance	4	15980504	15980504	Human		name
155746852	CV1778072	single nucleotide variant	NM_006017.3(PROM1):c.2537A>C (p.Tyr846Ser)	not provided [RCV002303456]	uncertain significance	4	15979440	15979440	Human		name
155747336	CV1778491	single nucleotide variant	NM_006017.3(PROM1):c.2575A>G (p.Met859Val)	not provided [RCV002303650]	uncertain significance	4	15979402	15979402	Human		name
155692319	CV1779451	single nucleotide variant	NM_006017.3(PROM1):c.2513A>T (p.Asn838Ile)	not provided [RCV002294981]	uncertain significance	4	15979881	15979881	Human		name
156403250	CV1885697	single nucleotide variant	NM_006017.3(PROM1):c.2020G>A (p.Ala674Thr)	not provided [RCV003069434]	uncertain significance	4	15989788	15989788	Human		name
156352868	CV1893414	single nucleotide variant	NM_006017.3(PROM1):c.1373G>A (p.Cys458Tyr)	not provided [RCV003091116]	uncertain significance	4	16006619	16006619	Human		name
156099606	CV1920651	single nucleotide variant	NM_006017.3(PROM1):c.2549A>G (p.His850Arg)	not provided [RCV002592225]	uncertain significance	4	15979428	15979428	Human		name
156164484	CV1929903	single nucleotide variant	NM_006017.3(PROM1):c.1622A>G (p.Tyr541Cys)	not provided [RCV002624499]	uncertain significance	4	15998445	15998445	Human		name
156363855	CV1934825	single nucleotide variant	NM_006017.3(PROM1):c.2383T>C (p.Trp795Arg)	not provided [RCV002651821]	uncertain significance	4	15980528	15980528	Human		name
156330051	CV1954025	single nucleotide variant	NM_006017.3(PROM1):c.1118G>A (p.Arg373His)	not provided [RCV002579946]	uncertain significance	4	16013298	16013298	Human		name
156299008	CV1955467	single nucleotide variant	NM_006017.3(PROM1):c.2207T>C (p.Ile736Thr)	Inborn genetic diseases [RCV004064524]\|not provided [RCV002578144]	uncertain significance	4	15985961	15985961	Human	1	name
156397522	CV1965729	single nucleotide variant	NM_006017.3(PROM1):c.2545G>A (p.Asp849Asn)	not provided [RCV002584526]	uncertain significance	4	15979432	15979432	Human		name
156397909	CV1965793	single nucleotide variant	NM_006017.3(PROM1):c.1360C>G (p.Leu454Val)	not provided [RCV002584561]	uncertain significance	4	16006632	16006632	Human		name
156136194	CV1977270	single nucleotide variant	NM_006017.3(PROM1):c.1813C>G (p.Leu605Val)	Inborn genetic diseases [RCV003167456]\|not provided [RCV002593668]	uncertain significance	4	15992346	15992346	Human	1	name
156255971	CV1977339	single nucleotide variant	NM_006017.3(PROM1):c.1655T>C (p.Met552Thr)	not provided [RCV002597624]	uncertain significance	4	15998412	15998412	Human		name
156395552	CV1980378	single nucleotide variant	NM_006017.3(PROM1):c.1901A>G (p.Tyr634Cys)	not provided [RCV002605101]	uncertain significance	4	15992258	15992258	Human		name
156351193	CV1985620	single nucleotide variant	NM_006017.3(PROM1):c.2080A>G (p.Thr694Ala)	not provided [RCV002631990]	uncertain significance	4	15987713	15987713	Human		name
156392460	CV1991510	single nucleotide variant	NM_006017.3(PROM1):c.1142G>A (p.Gly381Asp)	not provided [RCV002635123]	uncertain significance	4	16009108	16009108	Human		name
156116884	CV1993997	single nucleotide variant	NM_006017.3(PROM1):c.2113A>G (p.Thr705Ala)	not provided [RCV002662701]	uncertain significance	4	15987680	15987680	Human		name
156380353	CV1997912	single nucleotide variant	NM_006017.3(PROM1):c.1882A>G (p.Arg628Gly)	not provided [RCV002653614]	uncertain significance	4	15992277	15992277	Human		name
156028178	CV2004734	single nucleotide variant	NM_006017.3(PROM1):c.2579C>T (p.Thr860Ile)	not provided [RCV002658543]	uncertain significance	4	15979398	15979398	Human		name
156359048	CV2006885	single nucleotide variant	NM_006017.3(PROM1):c.1555T>G (p.Tyr519Asp)	not provided [RCV002676122]	uncertain significance	4	16000519	16000519	Human		name
156361654	CV2016712	single nucleotide variant	NM_006017.3(PROM1):c.1970A>G (p.Lys657Arg)	not provided [RCV002720907]	uncertain significance	4	15991235	15991235	Human		name
156082913	CV2023662	single nucleotide variant	NM_006017.3(PROM1):c.2462G>A (p.Arg821Gln)	not provided [RCV002760684]	uncertain significance	4	15980449	15980449	Human		name
156269973	CV2026851	single nucleotide variant	NM_006017.3(PROM1):c.2419C>T (p.Pro807Ser)	not provided [RCV002746604]	uncertain significance	4	15980492	15980492	Human		name
155984971	CV2030362	single nucleotide variant	NM_006017.3(PROM1):c.2284A>C (p.Ser762Arg)	not provided [RCV002755498]	uncertain significance	4	15984352	15984352	Human		name
156239851	CV2047384	single nucleotide variant	NM_006017.3(PROM1):c.2401G>T (p.Ala801Ser)	not provided [RCV002805636]	uncertain significance	4	15980510	15980510	Human		name
156040495	CV2049701	single nucleotide variant	NM_006017.3(PROM1):c.1474C>G (p.Leu492Val)	not provided [RCV002796417]	uncertain significance	4	16000600	16000600	Human		name
156066546	CV2054482	single nucleotide variant	NM_006017.3(PROM1):c.2269A>T (p.Ile757Phe)	not provided [RCV002797270]	uncertain significance	4	15985771	15985771	Human		name
8596854	CV20648	single nucleotide variant	NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)	Retinal dystrophy [RCV000210292]\|Retinitis pigmentosa 41 [RCV000005959]\|Retinitis pigmentosa [RCV000504792]	pathogenic	4	15994028	15994028	Human	5	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]\|Stargardt disease 4 [RCV002496275]\|Stargardt disease [RCV000787648]\|not provid ... (more) ed [RCV000479499]	pathogenic\|likely pathogenic	4	16013299	16013299	Human	10	name
156272894	CV2067322	single nucleotide variant	NM_006017.3(PROM1):c.1931G>A (p.Gly644Glu)	not provided [RCV002856114]	uncertain significance	4	15991274	15991274	Human		name
155941701	CV2068230	single nucleotide variant	NM_006017.3(PROM1):c.2194T>A (p.Ser732Thr)	not provided [RCV002839452]	uncertain significance	4	15985974	15985974	Human		name
155947689	CV2068922	single nucleotide variant	NM_006017.3(PROM1):c.1141G>A (p.Gly381Ser)	not provided [RCV002862171]	uncertain significance	4	16013275	16013275	Human		name
156300775	CV2069902	single nucleotide variant	NM_006017.3(PROM1):c.2351G>A (p.Cys784Tyr)	not provided [RCV002833609]	uncertain significance	4	15984285	15984285	Human		name
156024914	CV2100093	single nucleotide variant	NM_006017.3(PROM1):c.1799G>T (p.Ser600Ile)	not provided [RCV002885131]	uncertain significance	4	15992360	15992360	Human		name
156023700	CV2105938	single nucleotide variant	NM_006017.3(PROM1):c.1162T>C (p.Ser388Pro)	not provided [RCV002923190]	uncertain significance	4	16009088	16009088	Human		name
156352229	CV2118701	single nucleotide variant	NM_006017.3(PROM1):c.1855C>T (p.Gln619Ter)	not provided [RCV002966383]	pathogenic	4	15992304	15992304	Human		name
156037130	CV2119998	single nucleotide variant	NM_006017.3(PROM1):c.1012G>A (p.Val338Met)	Inborn genetic diseases [RCV003269360]\|not provided [RCV002949471]	uncertain significance	4	16016231	16016231	Human	1	name
155949440	CV2123388	single nucleotide variant	NM_006017.3(PROM1):c.2330C>T (p.Thr777Ile)	not provided [RCV002971777]	uncertain significance	4	15984306	15984306	Human		name
156036883	CV2124508	single nucleotide variant	NM_006017.3(PROM1):c.1564A>G (p.Lys522Glu)	not provided [RCV002923750]	uncertain significance	4	16000510	16000510	Human		name
156127579	CV2124976	single nucleotide variant	NM_006017.3(PROM1):c.1210G>A (p.Asp404Asn)	not provided [RCV002953751]	uncertain significance	4	16009040	16009040	Human		name
155930329	CV2129098	single nucleotide variant	NM_006017.3(PROM1):c.2019T>A (p.Asp673Glu)	not provided [RCV002970597]	uncertain significance	4	15989789	15989789	Human		name
156057898	CV2134012	single nucleotide variant	NM_006017.3(PROM1):c.1010C>G (p.Pro337Arg)	not provided [RCV003000097]	uncertain significance	4	16016233	16016233	Human		name
155958214	CV2135325	single nucleotide variant	NM_006017.3(PROM1):c.1922C>A (p.Ser641Tyr)	Retinal dystrophy [RCV003889198]\|not provided [RCV002995013]	uncertain significance	4	15991283	15991283	Human	2	name
155954348	CV2143855	single nucleotide variant	NM_006017.3(PROM1):c.2456A>G (p.Tyr819Cys)	not provided [RCV002994810]	uncertain significance	4	15980455	15980455	Human		name
156040704	CV2146764	single nucleotide variant	NM_006017.3(PROM1):c.1179C>G (p.Ile393Met)	not provided [RCV003019045]	uncertain significance	4	16009071	16009071	Human		name
155912839	CV2148572	single nucleotide variant	NM_006017.3(PROM1):c.1258A>G (p.Ile420Val)	not provided [RCV002991446]	uncertain significance	4	16008992	16008992	Human		name
156091843	CV2155720	single nucleotide variant	NM_006017.3(PROM1):c.1027G>A (p.Asp343Asn)	not provided [RCV003020714]	uncertain significance	4	16016216	16016216	Human		name
156325572	CV2159819	single nucleotide variant	NM_006017.3(PROM1):c.2500A>G (p.Ile834Val)	not provided [RCV003029466]	uncertain significance	4	15979894	15979894	Human		name
156071257	CV2168929	single nucleotide variant	NM_006017.3(PROM1):c.1537A>G (p.Lys513Glu)	not provided [RCV003037574]	uncertain significance	4	16000537	16000537	Human		name
156133655	CV2169329	single nucleotide variant	NM_006017.3(PROM1):c.1403C>T (p.Thr468Ile)	not provided [RCV003022270]	uncertain significance	4	16006589	16006589	Human		name
156230693	CV2172982	single nucleotide variant	NM_006017.3(PROM1):c.2534G>T (p.Gly845Val)	not provided [RCV003059293]	uncertain significance	4	15979443	15979443	Human		name
156365673	CV2176983	single nucleotide variant	NM_006017.3(PROM1):c.1234T>C (p.Tyr412His)	not provided [RCV003049332]	uncertain significance	4	16009016	16009016	Human		name
155967318	CV2180187	single nucleotide variant	NM_006017.3(PROM1):c.1000C>T (p.Gln334Ter)	not provided [RCV003033229]	pathogenic	4	16018325	16018325	Human		name
156167833	CV2201052	single nucleotide variant	NM_006017.3(PROM1):c.2393T>C (p.Ile798Thr)	Inborn genetic diseases [RCV002664549]\|not provided [RCV005099466]	uncertain significance	4	15980518	15980518	Human	1	name
155987750	CV2234135	single nucleotide variant	NM_006017.3(PROM1):c.2086T>C (p.Tyr696His)	Inborn genetic diseases [RCV002733036]	uncertain significance	4	15987707	15987707	Human	1	name
156239374	CV2235916	single nucleotide variant	NM_006017.3(PROM1):c.2584C>G (p.Pro862Ala)	Inborn genetic diseases [RCV002768167]	uncertain significance	4	15971081	15971081	Human	1	name
329402005	CV2467722	single nucleotide variant	NM_006017.3(PROM1):c.1078G>A (p.Gly360Ser)	Inborn genetic diseases [RCV003221185]	uncertain significance	4	16013338	16013338	Human	1	name
329352860	CV2476929	single nucleotide variant	NM_006017.3(PROM1):c.1559C>G (p.Thr520Arg)	not provided [RCV003223161]	uncertain significance	4	16000515	16000515	Human		name
401741024	CV2702733	single nucleotide variant	NM_006017.3(PROM1):c.2189A>G (p.Asn730Ser)	Inborn genetic diseases [RCV003292505]\|Retinal dystrophy [RCV003889292]	uncertain significance	4	15985979	15985979	Human	3	name
401797683	CV2742418	single nucleotide variant	NM_006017.3(PROM1):c.2267G>A (p.Trp756Ter)	Cone-rod dystrophy [RCV003324707]	likely pathogenic	4	15985773	15985773	Human	3	name
401874942	CV2756142	single nucleotide variant	NM_006017.3(PROM1):c.1577G>T (p.Arg526Leu)	Inborn genetic diseases [RCV003347514]	uncertain significance	4	16000497	16000497	Human	1	name
401890885	CV2778407	single nucleotide variant	NM_006017.3(PROM1):c.2004C>A (p.Asn668Lys)	Inborn genetic diseases [RCV003354626]	uncertain significance	4	15989804	15989804	Human	1	name
404981485	CV2850863	single nucleotide variant	NM_006017.3(PROM1):c.2231G>C (p.Arg744Thr)	not provided [RCV003488308]	uncertain significance	4	15985809	15985809	Human		name
405199405	CV2877013	single nucleotide variant	NM_006017.3(PROM1):c.2572G>T (p.Val858Phe)	not provided [RCV003551236]	uncertain significance	4	15979405	15979405	Human		name
405123623	CV2889394	single nucleotide variant	NM_006017.3(PROM1):c.1951G>T (p.Ala651Ser)	not provided [RCV003559357]	uncertain significance	4	15991254	15991254	Human		name
405228847	CV2894675	single nucleotide variant	NM_006017.3(PROM1):c.2011A>T (p.Lys671Ter)	not provided [RCV003555148]	pathogenic	4	15989797	15989797	Human		name
402521550	CV2899979	single nucleotide variant	NM_006017.3(PROM1):c.1874G>T (p.Gly625Val)	not provided [RCV003575896]	uncertain significance	4	15992285	15992285	Human		name
405182196	CV2909446	single nucleotide variant	NM_006017.3(PROM1):c.2531A>G (p.Asn844Ser)	not provided [RCV003564024]	uncertain significance	4	15979446	15979446	Human		name
405174317	CV2919267	single nucleotide variant	NM_006017.3(PROM1):c.1767G>T (p.Glu589Asp)	not provided [RCV003563404]	uncertain significance	4	15993987	15993987	Human		name
402481506	CV2921561	single nucleotide variant	NM_006017.3(PROM1):c.1099A>G (p.Ile367Val)	not provided [RCV003572137]	uncertain significance	4	16013317	16013317	Human		name
405059204	CV2929033	single nucleotide variant	NM_006017.3(PROM1):c.2335G>A (p.Val779Ile)	not provided [RCV003580344]	uncertain significance	4	15984301	15984301	Human		name
405012885	CV2930118	single nucleotide variant	NM_006017.3(PROM1):c.1154T>C (p.Val385Ala)	not provided [RCV003576889]	uncertain significance	4	16009096	16009096	Human		name
405068459	CV2936860	single nucleotide variant	NM_006017.3(PROM1):c.1748A>G (p.Glu583Gly)	not provided [RCV003659274]	uncertain significance	4	15994006	15994006	Human		name
405100521	CV2938218	single nucleotide variant	NM_006017.3(PROM1):c.1811A>G (p.Asn604Ser)	not provided [RCV003665859]	uncertain significance	4	15992348	15992348	Human		name
405113041	CV2939093	single nucleotide variant	NM_006017.3(PROM1):c.1605T>G (p.Asn535Lys)	PROM1-related disorder [RCV004723401]\|not provided [RCV003666567]	uncertain significance	4	15998462	15998462	Human		name , alternate_id
405123991	CV2942634	single nucleotide variant	NM_006017.3(PROM1):c.2453A>G (p.Tyr818Cys)	not provided [RCV003671772]	uncertain significance	4	15980458	15980458	Human		name
402499186	CV2946846	single nucleotide variant	NM_006017.3(PROM1):c.2501T>C (p.Ile834Thr)	not provided [RCV003661429]	uncertain significance	4	15979893	15979893	Human		name
405232754	CV2965307	single nucleotide variant	NM_006017.3(PROM1):c.1877T>G (p.Ile626Arg)	not provided [RCV003682530]	uncertain significance	4	15992282	15992282	Human		name
405184596	CV2967596	single nucleotide variant	NM_006017.3(PROM1):c.2167G>T (p.Ala723Ser)	not provided [RCV003676625]	uncertain significance	4	15986001	15986001	Human		name
405215798	CV2967802	single nucleotide variant	NM_006017.3(PROM1):c.1444T>G (p.Phe482Val)	not provided [RCV003679929]	uncertain significance	4	16006548	16006548	Human		name
405244836	CV2972670	single nucleotide variant	NM_006017.3(PROM1):c.1820T>A (p.Ile607Asn)	not provided [RCV003684969]	uncertain significance	4	15992339	15992339	Human		name
11585820	CV297554	single nucleotide variant	NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)	Retinal dystrophy [RCV003888823]\|Retinal macular dystrophy type 2 [RCV000322364]\|Retinitis pigmentosa [RCV000283728]\|Stargardt disease 4 [RCV000323535]\|not provided [RCV000594499]	likely pathogenic\|likely benign\|uncertain significance	4	16000498	16000498	Human	6	name
405033740	CV3006655	single nucleotide variant	NM_006017.3(PROM1):c.1142G>T (p.Gly381Val)	not provided [RCV003695768]	uncertain significance	4	16009108	16009108	Human		name
405130173	CV3010953	single nucleotide variant	NM_006017.3(PROM1):c.1695A>C (p.Lys565Asn)	not provided [RCV003701627]	uncertain significance	4	15994059	15994059	Human		name
405200869	CV3041311	single nucleotide variant	NM_006017.3(PROM1):c.1599A>C (p.Leu533Phe)	not provided [RCV003707428]	uncertain significance	4	15998468	15998468	Human		name
405241992	CV3078564	single nucleotide variant	NM_006017.3(PROM1):c.1388A>G (p.Tyr463Cys)	not provided [RCV003737479]	uncertain significance	4	16006604	16006604	Human		name
402503704	CV3081106	duplication	NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter)	Retinal dystrophy [RCV004818411]\|Retinal macular dystrophy type 2 [RCV004691622]\|not provided [RCV003779373]	pathogenic\|likely pathogenic	4	15994044	15994045	Human	3	name
407451512	CV3081107	single nucleotide variant	NM_006017.3(PROM1):c.1853T>G (p.Leu618Arg)	Cone-rod dystrophy 12 [RCV004691623]	likely pathogenic	4	15992306	15992306	Human	1	name
404981330	CV3121066	single nucleotide variant	NM_006017.3(PROM1):c.1108A>G (p.Arg370Gly)	not provided [RCV003826058]	uncertain significance	4	16013308	16013308	Human		name
405195768	CV3128719	single nucleotide variant	NM_006017.3(PROM1):c.2299T>A (p.Ser767Thr)	Inborn genetic diseases [RCV004953569]\|not provided [RCV003821457]	uncertain significance	4	15984337	15984337	Human	1	name
405117366	CV3130952	single nucleotide variant	NM_006017.3(PROM1):c.1838C>T (p.Ala613Val)	not provided [RCV003837008]	uncertain significance	4	15992321	15992321	Human		name
405185395	CV3138674	single nucleotide variant	NM_006017.3(PROM1):c.1415G>A (p.Arg472Gln)	not provided [RCV003842886]	uncertain significance	4	16006577	16006577	Human		name
405041091	CV3141053	single nucleotide variant	NM_006017.3(PROM1):c.1572A>C (p.Leu524Phe)	PROM1-related disorder [RCV004736416]\|not provided [RCV003831346]	uncertain significance	4	16000502	16000502	Human		name , alternate_id
405199397	CV3147166	single nucleotide variant	NM_006017.3(PROM1):c.1273C>T (p.Pro425Ser)	not provided [RCV003844326]	uncertain significance	4	16008977	16008977	Human		name
405061496	CV3148294	single nucleotide variant	NM_006017.3(PROM1):c.1966G>A (p.Ala656Thr)	not provided [RCV003850250]	uncertain significance	4	15991239	15991239	Human		name
405222088	CV3154878	single nucleotide variant	NM_006017.3(PROM1):c.2315C>T (p.Ala772Val)	not provided [RCV003847373]	uncertain significance	4	15984321	15984321	Human		name
405219341	CV3161333	single nucleotide variant	NM_006017.3(PROM1):c.2042A>G (p.His681Arg)	not provided [RCV003863202]	uncertain significance	4	15989766	15989766	Human		name
402502092	CV3180961	single nucleotide variant	NM_006017.3(PROM1):c.2534G>C (p.Gly845Ala)	not provided [RCV003877978]	uncertain significance	4	15979443	15979443	Human		name
405264345	CV3187937	single nucleotide variant	NM_006017.3(PROM1):c.2547T>A (p.Asp849Glu)	Retinal dystrophy [RCV003890883]	uncertain significance	4	15979430	15979430	Human	2	name
405264346	CV3187938	single nucleotide variant	NM_006017.3(PROM1):c.2464A>G (p.Met822Val)	Retinal dystrophy [RCV003890884]	uncertain significance	4	15980447	15980447	Human	2	name
405264348	CV3187939	single nucleotide variant	NM_006017.3(PROM1):c.2357A>G (p.Tyr786Cys)	Retinal dystrophy [RCV003890885]	uncertain significance	4	15984279	15984279	Human	2	name
405264351	CV3187941	single nucleotide variant	NM_006017.3(PROM1):c.1745G>T (p.Ser582Ile)	Retinal dystrophy [RCV003890887]	uncertain significance	4	15994009	15994009	Human	2	name
405264355	CV3187944	single nucleotide variant	NM_006017.3(PROM1):c.1438G>A (p.Gly480Ser)	Inborn genetic diseases [RCV004953635]\|Retinal dystrophy [RCV003890890]	uncertain significance	4	16006554	16006554	Human	3	name
405264359	CV3187946	single nucleotide variant	NM_006017.3(PROM1):c.1363G>C (p.Gly455Arg)	Retinal dystrophy [RCV003890892]	uncertain significance	4	16006629	16006629	Human	2	name
405264360	CV3187947	single nucleotide variant	NM_006017.3(PROM1):c.1259T>C (p.Ile420Thr)	Retinal dystrophy [RCV003890893]	uncertain significance	4	16008991	16008991	Human	2	name
405264363	CV3187948	single nucleotide variant	NM_006017.3(PROM1):c.1215A>G (p.Ile405Met)	Retinal dystrophy [RCV003890894]	uncertain significance	4	16009035	16009035	Human	2	name
405264364	CV3187949	single nucleotide variant	NM_006017.3(PROM1):c.1151G>A (p.Arg384Lys)	Retinal dystrophy [RCV003890895]	likely pathogenic	4	16009099	16009099	Human	2	name
405795455	CV3377363	single nucleotide variant	NM_006017.3(PROM1):c.1499T>C (p.Ile500Thr)	Inborn genetic diseases [RCV004507375]	uncertain significance	4	16000575	16000575	Human	1	name
405795458	CV3377364	single nucleotide variant	NM_006017.3(PROM1):c.1696A>C (p.Asn566His)	Inborn genetic diseases [RCV004507376]	uncertain significance	4	15994058	15994058	Human	1	name
405795464	CV3377366	single nucleotide variant	NM_006017.3(PROM1):c.2018A>T (p.Asp673Val)	Inborn genetic diseases [RCV004507378]	uncertain significance	4	15989790	15989790	Human	1	name
405795467	CV3377367	single nucleotide variant	NM_006017.3(PROM1):c.2294T>C (p.Val765Ala)	Inborn genetic diseases [RCV004507379]	uncertain significance	4	15984342	15984342	Human	1	name
596945500	CV3407504	single nucleotide variant	NM_006017.3(PROM1):c.1418G>C (p.Gly473Ala)	Retinal dystrophy [RCV004818597]	uncertain significance	4	16006574	16006574	Human	2	name
596939081	CV3407643	single nucleotide variant	NM_006017.3(PROM1):c.2482T>C (p.Tyr828His)	Retinal dystrophy [RCV004814103]	uncertain significance	4	15980429	15980429	Human	2	name
596939086	CV3407649	single nucleotide variant	NM_006017.3(PROM1):c.2105T>A (p.Leu702His)	Retinal dystrophy [RCV004814109]	uncertain significance	4	15987688	15987688	Human	2	name
596939206	CV3407714	single nucleotide variant	NM_006017.3(PROM1):c.1756A>T (p.Asn586Tyr)	Retinal dystrophy [RCV004814174]	uncertain significance	4	15993998	15993998	Human	2	name
596939320	CV3407816	single nucleotide variant	NM_006017.3(PROM1):c.2378T>A (p.Leu793Ter)	Retinal dystrophy [RCV004814276]\|Stargardt disease 4 [RCV005412666]	pathogenic\|likely pathogenic	4	15980533	15980533	Human	3	name
596941339	CV3408100	single nucleotide variant	NM_006017.3(PROM1):c.2484C>A (p.Tyr828Ter)	Retinal dystrophy [RCV004815771]	pathogenic	4	15980427	15980427	Human	2	name
596944238	CV3408783	single nucleotide variant	NM_006017.3(PROM1):c.1144A>G (p.Ile382Val)	Retinal dystrophy [RCV004817432]	uncertain significance	4	16009106	16009106	Human	2	name
407465882	CV3461160	single nucleotide variant	NM_006017.3(PROM1):c.1675G>A (p.Val559Ile)	Inborn genetic diseases [RCV004660345]	uncertain significance	4	15998392	15998392	Human	1	name
407465885	CV3461161	single nucleotide variant	NM_006017.3(PROM1):c.1132G>A (p.Val378Ile)	Inborn genetic diseases [RCV004660346]	likely benign	4	16013284	16013284	Human	1	name
407513429	CV3461162	single nucleotide variant	NM_006017.3(PROM1):c.1111G>A (p.Val371Ile)	Inborn genetic diseases [RCV004648820]	uncertain significance	4	16013305	16013305	Human	1	name
408387185	CV3524437	single nucleotide variant	NM_006017.3(PROM1):c.1897A>G (p.Ser633Gly)	not provided [RCV004768311]	uncertain significance	4	15992262	15992262	Human		name
596929737	CV3541002	single nucleotide variant	NM_006017.3(PROM1):c.1649C>G (p.Ser550Ter)	Retinal dystrophy [RCV004795325]	pathogenic	4	15998418	15998418	Human	2	name
596948324	CV3549407	single nucleotide variant	NM_006017.3(PROM1):c.1234T>G (p.Tyr412Asp)	not provided [RCV004812227]	uncertain significance	4	16009016	16009016	Human		name
597695162	CV3588114	single nucleotide variant	NM_006017.3(PROM1):c.1252A>G (p.Ser418Gly)	Inborn genetic diseases [RCV004954711]	uncertain significance	4	16008998	16008998	Human	1	name
597695171	CV3588115	single nucleotide variant	NM_006017.3(PROM1):c.2429T>C (p.Ile810Thr)	Inborn genetic diseases [RCV004954712]	uncertain significance	4	15980482	15980482	Human	1	name
597695195	CV3588118	single nucleotide variant	NM_006017.3(PROM1):c.2135G>C (p.Arg712Thr)	Inborn genetic diseases [RCV004954715]	uncertain significance	4	15986033	15986033	Human	1	name
597695203	CV3588119	single nucleotide variant	NM_006017.3(PROM1):c.1553C>T (p.Pro518Leu)	Inborn genetic diseases [RCV004954716]	uncertain significance	4	16000521	16000521	Human	1	name
617153467	CV3703435	single nucleotide variant	NM_006017.3(PROM1):c.1623T>A (p.Tyr541Ter)	Cone-rod dystrophy [RCV005419831]	pathogenic	4	15998444	15998444	Human	3	name
597923056	CV3738575	single nucleotide variant	NM_006017.3(PROM1):c.2548C>G (p.His850Asp)	not provided [RCV005074983]	uncertain significance	4	15979429	15979429	Human		name
597892762	CV3743880	single nucleotide variant	NM_006017.3(PROM1):c.1753C>G (p.Leu585Val)	Inborn genetic diseases [RCV005264584]\|not provided [RCV005071350]	uncertain significance	4	15994001	15994001	Human	1	name
597945328	CV3755344	single nucleotide variant	NM_006017.3(PROM1):c.1145T>C (p.Ile382Thr)	not provided [RCV005078353]	uncertain significance	4	16009105	16009105	Human		name
597893488	CV3763502	single nucleotide variant	NM_006017.3(PROM1):c.1498A>G (p.Ile500Val)	not provided [RCV005111083]	uncertain significance	4	16000576	16000576	Human		name
597918847	CV3764895	single nucleotide variant	NM_006017.3(PROM1):c.2257T>C (p.Tyr753His)	not provided [RCV005114910]	uncertain significance	4	15985783	15985783	Human		name
597870572	CV3768194	single nucleotide variant	NM_006017.3(PROM1):c.2056C>A (p.Leu686Ile)	not provided [RCV005122573]	uncertain significance	4	15989752	15989752	Human		name
597929621	CV3780142	single nucleotide variant	NM_006017.3(PROM1):c.1945T>A (p.Ser649Thr)	not provided [RCV005116462]	uncertain significance	4	15991260	15991260	Human		name
597880417	CV3783622	single nucleotide variant	NM_006017.3(PROM1):c.2136A>T (p.Arg712Ser)	not provided [RCV005124118]	uncertain significance	4	15986032	15986032	Human		name
597954864	CV3786771	single nucleotide variant	NM_006017.3(PROM1):c.1049G>A (p.Arg350Lys)	not provided [RCV005121862]	uncertain significance	4	16016194	16016194	Human		name
597881415	CV3786923	single nucleotide variant	NM_006017.3(PROM1):c.2480T>A (p.Val827Glu)	not provided [RCV005123999]	uncertain significance	4	15980431	15980431	Human		name
597879693	CV3786927	single nucleotide variant	NM_006017.3(PROM1):c.2478C>A (p.Asp826Glu)	not provided [RCV005124003]	uncertain significance	4	15980433	15980433	Human		name
597937052	CV3787807	single nucleotide variant	NM_006017.3(PROM1):c.2129T>A (p.Leu710Ter)	not provided [RCV005132686]	pathogenic	4	15987664	15987664	Human		name
597939077	CV3788417	single nucleotide variant	NM_006017.3(PROM1):c.1747G>A (p.Glu583Lys)	not provided [RCV005133092]	uncertain significance	4	15994007	15994007	Human		name
597966379	CV3793997	single nucleotide variant	NM_006017.3(PROM1):c.1453G>C (p.Val485Leu)	not provided [RCV005140379]	uncertain significance	4	16006539	16006539	Human		name
597961439	CV3795168	single nucleotide variant	NM_006017.3(PROM1):c.2272G>T (p.Glu758Ter)	not provided [RCV005138860]	pathogenic	4	15985768	15985768	Human		name
597869993	CV3839325	single nucleotide variant	NM_006017.3(PROM1):c.1876A>G (p.Ile626Val)	not provided [RCV005176436]	uncertain significance	4	15992283	15992283	Human		name
597900303	CV3855003	single nucleotide variant	NM_006017.3(PROM1):c.2038A>C (p.Ile680Leu)	not provided [RCV005201912]	uncertain significance	4	15989770	15989770	Human		name
597865642	CV3861250	single nucleotide variant	NM_006017.3(PROM1):c.2540A>C (p.His847Pro)	not provided [RCV005196598]	uncertain significance	4	15979437	15979437	Human		name
597923229	CV3862924	single nucleotide variant	NM_006017.3(PROM1):c.2297C>T (p.Ala766Val)	not provided [RCV005205412]	uncertain significance	4	15984339	15984339	Human		name
598223000	CV3892223	single nucleotide variant	NM_006017.3(PROM1):c.1356C>A (p.Tyr452Ter)	Retinitis pigmentosa 41 [RCV005253562]	likely pathogenic	4	16006636	16006636	Human	1	name
598226392	CV3894376	single nucleotide variant	NM_006017.3(PROM1):c.2186A>G (p.Asn729Ser)	not provided [RCV005257619]	uncertain significance	4	15985982	15985982	Human		name
598247760	CV3901211	single nucleotide variant	NM_006017.3(PROM1):c.1247C>T (p.Thr416Ile)	Inborn genetic diseases [RCV005258687]	uncertain significance	4	16009003	16009003	Human	1	name
598247765	CV3901212	single nucleotide variant	NM_006017.3(PROM1):c.1441G>A (p.Val481Ile)	Inborn genetic diseases [RCV005258688]	likely benign	4	16006551	16006551	Human	1	name
598247777	CV3901214	single nucleotide variant	NM_006017.3(PROM1):c.1229C>G (p.Ser410Cys)	Inborn genetic diseases [RCV005258690]	uncertain significance	4	16009021	16009021	Human	1	name
598210903	CV4008079	single nucleotide variant	NM_006017.3(PROM1):c.2440A>G (p.Lys814Glu)	Stargardt disease 4 [RCV005400393]	uncertain significance	4	15980471	15980471	Human	1	name
13795474	CV551534	single nucleotide variant	NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)	Usher syndrome [RCV000678600]	pathogenic	4	16000612	16000612	Human	1	name
13837890	CV589186	single nucleotide variant	NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly)	Inborn genetic diseases [RCV002536520]\|not provided [RCV000734444]	conflicting interpretations of pathogenicity\|uncertain significance	4	15998457	15998457	Human	1	name
14397022	CV612677	single nucleotide variant	NM_006017.3(PROM1):c.1577G>A (p.Arg526Gln)	not provided [RCV000762138]	uncertain significance	4	16000497	16000497	Human		name
14396987	CV612678	single nucleotide variant	NM_006017.3(PROM1):c.1136T>C (p.Val379Ala)	Inborn genetic diseases [RCV004958076]\|not provided [RCV000762094]	uncertain significance	4	16013280	16013280	Human	1	name
14695806	CV622344	single nucleotide variant	NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter)	Cone-rod dystrophy 12 [RCV004796310]\|Retinal dystrophy [RCV003889979]\|Retinitis pigmentosa 41 [RCV000784975]\|not provided [RCV001093370]	pathogenic	4	15989758	15989758	Human	4	name
14698658	CV623836	single nucleotide variant	NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)	Cone-rod dystrophy 12 [RCV003225955]\|Retinal dystrophy [RCV004818009]\|Retinitis pigmentosa [RCV000787650]\|not provided [RCV001388262]	pathogenic\|likely pathogenic	4	15980450	15980450	Human	5	name
14698702	CV623966	single nucleotide variant	NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)	Retinal dystrophy [RCV001075504]\|Retinitis pigmentosa [RCV000787917]\|not provided [RCV001058099]	pathogenic\|likely pathogenic\|uncertain significance	4	15987683	15987683	Human	4	name
15156820	CV709217	single nucleotide variant	NM_006017.3(PROM1):c.1751A>G (p.His584Arg)	Cone-rod dystrophy 12 [RCV001150812]\|PROM1-related disorder [RCV004535951]\|Retinal macular dystrophy type 2 [RCV001150810]\|Retinitis pigmentosa [RCV001150809]\|Stargardt disease 4 [RCV001150811]\|not provided [RCV000969187]	benign\|likely benign\|uncertain significance	4	15994003	15994003	Human	5	name , alternate_id
21071294	CV790454	single nucleotide variant	NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu)	Inborn genetic diseases [RCV002550601]\|Retinal dystrophy [RCV004818095]\|Retinitis pigmentosa 41 [RCV000987421]\|not provided [RCV001220696]	uncertain significance	4	15992379	15992379	Human	4	name
21068783	CV795551	single nucleotide variant	NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg)	not provided [RCV000998225]	likely benign\|conflicting interpretations of pathogenicity	4	15992303	15992303	Human		name
26900125	CV828929	single nucleotide variant	NM_006017.3(PROM1):c.2590C>T (p.Gln864Ter)	not provided [RCV001067541]	uncertain significance	4	15971075	15971075	Human		name
26884483	CV828931	single nucleotide variant	NM_006017.3(PROM1):c.2387T>A (p.Phe796Tyr)	Inborn genetic diseases [RCV004031620]\|not provided [RCV001051890]	uncertain significance	4	15980524	15980524	Human	1	name
26918928	CV828932	single nucleotide variant	NM_006017.3(PROM1):c.2167G>A (p.Ala723Thr)	not provided [RCV001044564]	uncertain significance	4	15986001	15986001	Human		name
26889027	CV828933	single nucleotide variant	NM_006017.3(PROM1):c.2021C>T (p.Ala674Val)	not provided [RCV001057906]	uncertain significance	4	15989787	15989787	Human		name
26897573	CV828934	single nucleotide variant	NM_006017.3(PROM1):c.1339C>G (p.Leu447Val)	not provided [RCV001065899]	uncertain significance	4	16006653	16006653	Human		name
26918912	CV828937	single nucleotide variant	NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)	Cone-rod dystrophy 12 [RCV001145008]\|Retinal macular dystrophy type 2 [RCV001151120]\|Retinitis pigmentosa [RCV001151121]\|Stargardt disease 4 [RCV001151119]\|not provided [RCV001044541]	likely benign\|uncertain significance	4	16009098	16009098	Human	5	name
26905355	CV828938	single nucleotide variant	NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)	Cone-rod dystrophy 12 [RCV001145010]\|Retinal macular dystrophy type 2 [RCV001145009]\|Retinitis pigmentosa [RCV001145011]\|Stargardt disease 4 [RCV001145012]\|not provided [RCV001071853]	uncertain significance	4	16016207	16016207	Human	5	name
26910542	CV856314	single nucleotide variant	NM_006017.3(PROM1):c.2479G>A (p.Val827Met)	Retinal dystrophy [RCV001075108]\|not provided [RCV002554743]	uncertain significance	4	15980432	15980432	Human	2	name
26909857	CV856315	single nucleotide variant	NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)	Retinal dystrophy [RCV001074064]\|Stargardt disease 4 [RCV002482152]\|not provided [RCV001092551]	uncertain significance	4	15980465	15980465	Human	3	name
26910406	CV856316	single nucleotide variant	NM_006017.3(PROM1):c.2415A>T (p.Leu805Phe)	Retinal dystrophy [RCV001074912]	uncertain significance	4	15980496	15980496	Human	2	name
26910477	CV856317	single nucleotide variant	NM_006017.3(PROM1):c.2373G>T (p.Leu791Phe)	Retinal dystrophy [RCV001075023]	likely pathogenic	4	15984263	15984263	Human	2	name
26909737	CV856318	single nucleotide variant	NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)	Retinal dystrophy [RCV001073905]\|Retinitis pigmentosa 41 [RCV001376252]\|Stargardt disease 4 [RCV002489720]\|not provided [RCV001862810]	likely pathogenic\|uncertain significance	4	15984309	15984309	Human	4	name
26909311	CV856319	single nucleotide variant	NM_006017.3(PROM1):c.2300C>T (p.Ser767Leu)	Retinal dystrophy [RCV001073268]\|not provided [RCV001862491]	uncertain significance	4	15984336	15984336	Human	2	name
26909411	CV856320	single nucleotide variant	NM_006017.3(PROM1):c.2020G>T (p.Ala674Ser)	Retinal dystrophy [RCV001073409]\|not provided [RCV003768989]	uncertain significance	4	15989788	15989788	Human	2	name
26910663	CV856322	single nucleotide variant	NM_006017.3(PROM1):c.1576C>G (p.Arg526Gly)	Retinal dystrophy [RCV001075274]	uncertain significance	4	16000498	16000498	Human	2	name
26910533	CV856323	single nucleotide variant	NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter)	Retinal dystrophy [RCV001075098]\|not provided [RCV001240750]	pathogenic\|likely pathogenic	4	16006578	16006578	Human	2	name
26910523	CV856324	single nucleotide variant	NM_006017.3(PROM1):c.1238T>A (p.Val413Asp)	Retinal dystrophy [RCV001075086]\|not provided [RCV003558655]	likely pathogenic\|uncertain significance	4	16009012	16009012	Human	2	name
26909734	CV856325	single nucleotide variant	NM_006017.3(PROM1):c.1139C>T (p.Ala380Val)	Retinal dystrophy [RCV001073902]\|not provided [RCV002554690]	uncertain significance	4	16013277	16013277	Human	2	name
28907992	CV859341	single nucleotide variant	NM_006017.3(PROM1):c.1337C>A (p.Thr446Asn)	not provided [RCV001093372]	uncertain significance	4	16006655	16006655	Human		name
8631063	CV86219	single nucleotide variant	NM_006017.2(PROM1):c.1163C>T (p.Ser388Phe)	Malignant melanoma [RCV000066310]	not provided	4	16009087	16009087	Human		name
28882767	CV890373	single nucleotide variant	NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)	Cone-rod dystrophy 12 [RCV001150066]\|Retinal dystrophy [RCV003890308]\|Retinal macular dystrophy type 2 [RCV001150067]\|Retinitis pigmentosa [RCV001150069]\|Stargardt disease 4 [RCV001150068]\|not provided [RCV001326315]	benign\|likely benign\|uncertain significance	4	15980426	15980426	Human	7	name
28872748	CV890375	single nucleotide variant	NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)	Cone-rod dystrophy 12 [RCV001149203]\|Optic atrophy [RCV004813801]\|PROM1-related disorder [RCV004734032]\|Retinal macular dystrophy type 2 [RCV001146429]\|Retinitis pigmentosa [RCV001146430]\|Stargardt disease 4 [RCV001146428]\|not provided [RCV001229010]	benign\|likely benign\|uncertain significance	4	15987699	15987699	Human	7	name , alternate_id
28880115	CV890376	single nucleotide variant	NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)	Cone-rod dystrophy 12 [RCV001149207]\|Retinal macular dystrophy type 2 [RCV001149205]\|Retinitis pigmentosa [RCV001149206]\|Stargardt disease 4 [RCV001149204]\|not provided [RCV002557210]	uncertain significance	4	15989758	15989758	Human	5	name
28885273	CV890377	single nucleotide variant	NM_006017.3(PROM1):c.1738A>C (p.Asn580His)	Cone-rod dystrophy 12 [RCV001144700]\|Retinal dystrophy [RCV003890296]\|Retinal macular dystrophy type 2 [RCV001150814]\|Retinitis pigmentosa [RCV001150815]\|Stargardt disease 4 [RCV001150813]\|not provided [RCV001300999]	benign\|likely benign\|uncertain significance	4	15994016	15994016	Human	7	name
28873444	CV890379	single nucleotide variant	NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)	Cone-rod dystrophy 12 [RCV001144804]\|Retinal dystrophy [RCV003890298]\|Retinal macular dystrophy type 2 [RCV001144802]\|Retinitis pigmentosa [RCV001146761]\|Stargardt disease 4 [RCV001144803]\|not provided [RCV001326038]	likely benign\|uncertain significance	4	16000606	16000606	Human	7	name
28873454	CV890381	single nucleotide variant	NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)	Cone-rod dystrophy 12 [RCV001146766]\|Retinal macular dystrophy type 2 [RCV001146767]\|Retinitis pigmentosa [RCV001146768]\|Stargardt disease 4 [RCV001147665]	uncertain significance	4	16006605	16006605	Human	5	name
28886297	CV890382	single nucleotide variant	NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)	Cone-rod dystrophy 12 [RCV001151116]\|Retinal macular dystrophy type 2 [RCV001151118]\|Retinitis pigmentosa [RCV001151115]\|Stargardt disease 4 [RCV001151117]\|not provided [RCV001858986]	likely benign\|uncertain significance	4	16009055	16009055	Human	5	name
38462969	CV918885	single nucleotide variant	NM_006017.3(PROM1):c.2540A>G (p.His847Arg)	Cone-rod dystrophy 12 [RCV001198793]	uncertain significance	4	15979437	15979437	Human	1	name
38493762	CV923456	single nucleotide variant	NM_006017.3(PROM1):c.2111G>A (p.Arg704His)	not provided [RCV001224497]	uncertain significance	4	15987682	15987682	Human		name
38487228	CV932236	single nucleotide variant	NM_006017.3(PROM1):c.2471C>T (p.Ser824Leu)	Retinal dystrophy [RCV004813877]\|not provided [RCV001209225]	uncertain significance	4	15980440	15980440	Human	2	name
38484904	CV932238	single nucleotide variant	NM_006017.3(PROM1):c.1945T>C (p.Ser649Pro)	not provided [RCV001208274]	uncertain significance	4	15991260	15991260	Human		name
38480004	CV932239	single nucleotide variant	NM_006017.3(PROM1):c.1834G>A (p.Ala612Thr)	Inborn genetic diseases [RCV005262270]\|not provided [RCV001206215]	uncertain significance	4	15992325	15992325	Human	1	name
38467862	CV932240	single nucleotide variant	NM_006017.3(PROM1):c.1730A>G (p.Asn577Ser)	Retinal dystrophy [RCV004813852]\|not provided [RCV001202102]	uncertain significance	4	15994024	15994024	Human	2	name
38483091	CV932241	single nucleotide variant	NM_006017.3(PROM1):c.1563C>A (p.Ser521Arg)	Inborn genetic diseases [RCV005262273]\|not provided [RCV001207513]	uncertain significance	4	16000511	16000511	Human	1	name
38485373	CV932242	single nucleotide variant	NM_006017.3(PROM1):c.1528A>T (p.Asn510Tyr)	not provided [RCV001208447]	uncertain significance	4	16000546	16000546	Human		name
38481815	CV932244	single nucleotide variant	NM_006017.3(PROM1):c.1384G>A (p.Gly462Ser)	not provided [RCV001206998]	uncertain significance	4	16006608	16006608	Human		name
38478174	CV932245	single nucleotide variant	NM_006017.3(PROM1):c.1166T>C (p.Ile389Thr)	not provided [RCV001205431]	uncertain significance	4	16009084	16009084	Human		name
38461717	CV943882	single nucleotide variant	NM_006017.3(PROM1):c.2236A>C (p.Ile746Leu)	Inborn genetic diseases [RCV002563728]\|not provided [RCV001229587]	uncertain significance	4	15985804	15985804	Human	1	name
38486534	CV943883	single nucleotide variant	NM_006017.3(PROM1):c.1984C>A (p.Pro662Thr)	not provided [RCV001236912]	uncertain significance	4	15989824	15989824	Human		name
38498605	CV943884	single nucleotide variant	NM_006017.3(PROM1):c.1925C>T (p.Pro642Leu)	Inborn genetic diseases [RCV004960589]\|not provided [RCV001227856]	uncertain significance	4	15991280	15991280	Human	1	name
38477545	CV943886	single nucleotide variant	NM_006017.3(PROM1):c.1204A>G (p.Ile402Val)	not provided [RCV001233531]	uncertain significance	4	16009046	16009046	Human		name
38493553	CV953715	single nucleotide variant	NM_006017.3(PROM1):c.2340T>G (p.Asp780Glu)	not provided [RCV001240747]	uncertain significance	4	15984296	15984296	Human		name
38495357	CV953716	single nucleotide variant	NM_006017.3(PROM1):c.2170C>T (p.Gln724Ter)	not provided [RCV001241892]	pathogenic	4	15985998	15985998	Human		name
38498299	CV953717	single nucleotide variant	NM_006017.3(PROM1):c.1954T>C (p.Tyr652His)	not provided [RCV001243730]	uncertain significance	4	15991251	15991251	Human		name
38495712	CV953718	single nucleotide variant	NM_006017.3(PROM1):c.1796A>T (p.Glu599Val)	not provided [RCV001242110]	uncertain significance	4	15992363	15992363	Human		name
38495753	CV953719	single nucleotide variant	NM_006017.3(PROM1):c.1778G>A (p.Ser593Asn)	not provided [RCV001242134]	uncertain significance	4	15992381	15992381	Human		name
38456414	CV953720	single nucleotide variant	NM_006017.3(PROM1):c.1309G>A (p.Gly437Ser)	not provided [RCV001245767]	uncertain significance	4	16006683	16006683	Human		name
38500058	CV953721	single nucleotide variant	NM_006017.3(PROM1):c.1272A>T (p.Leu424Phe)	not provided [RCV001245343]	uncertain significance	4	16008978	16008978	Human		name
40816026	CV967079	single nucleotide variant	NM_006017.3(PROM1):c.1557C>G (p.Tyr519Ter)	Autosomal recessive retinitis pigmentosa [RCV001257888]	pathogenic	4	16000517	16000517	Human	1	name
126770025	CV1025732	single nucleotide variant	NM_006017.3(PROM1):c.1196G>A (p.Arg399His)	PROM1-related disorder [RCV004734132]\|not provided [RCV001344246]	uncertain significance	4	16009054	16009054	Human		alternate_id
127280769	CV1071519	single nucleotide variant	NM_006017.3(PROM1):c.1912A>G (p.Thr638Ala)	PROM1-related disorder [RCV004734178]\|not provided [RCV001410027]	likely benign	4	15991293	15991293	Human		alternate_id
10049983	CV191235	single nucleotide variant	NM_006017.3(PROM1):c.1345G>A (p.Val449Met)	Cone-rod dystrophy 12 [RCV001147666]\|PROM1-related disorder [RCV004539610]\|Retinal macular dystrophy type 2 [RCV001147668]\|Retinitis pigmentosa 41 [RCV001535742]\|Retinitis pigmentosa [RCV001147667]\|Stargardt disease 4 [RCV001151003]\|not provided [RCV000724359]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	4	16006647	16006647	Human	6	alternate_id
11579175	CV271311	single nucleotide variant	NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)	Cone-rod dystrophy 12 [RCV000342856]\|PROM1-related disorder [RCV004734935]\|Retinal macular dystrophy type 2 [RCV000390893]\|Retinitis pigmentosa [RCV000303280]\|Stargardt disease 4 [RCV000297319]\|not provided [RCV000356389]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	15991277	15991277	Human	5	alternate_id
11589188	CV292699	single nucleotide variant	NM_006017.3(PROM1):c.2309C>A (p.Pro770His)	Cone-rod dystrophy 12 [RCV000314748]\|PROM1-related disorder [RCV004544649]\|Retinal macular dystrophy type 2 [RCV000393001]\|Retinitis pigmentosa [RCV000363627]\|Stargardt disease 4 [RCV000308984]\|not provided [RCV001518533]	benign\|likely benign\|uncertain significance	4	15984327	15984327	Human	5	alternate_id
14693736	CV620158	microsatellite	NM_006017.3(PROM1):c.1229_1230del (p.Ser410fs)	PROM1-related disorder [RCV000779437]	uncertain significance	4	16009020	16009021	Human		trait , alternate_id
126766050	CV1005155	indel	NM_006017.3(PROM1):c.2281-7_2281-6delinsAG	not provided [RCV001320287]	uncertain significance	4	15984361	15984362	Human		name
127244588	CV1071522	indel	NM_006017.3(PROM1):c.1301+10_1301+11delinsAA	not provided [RCV001416363]	likely benign	4	16008938	16008939	Human		name
12743322	CV361938	deletion	NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del	Retinal dystrophy [RCV000416309]	likely pathogenic				Human	2	name

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