Rp1l1 Variant Search Result - Rat Genome Database

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1005 records found for search term Rp1l1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405264818	CV3188244	single nucleotide variant	NM_178857.6(RP1L1):c.*1A>G	Retinal dystrophy [RCV003891191]	uncertain significance	8	10606894	10606894	Human	2	name
28872710	CV898746	single nucleotide variant	NM_178857.6(RP1L1):c.-8C>T	Occult macular dystrophy [RCV001164528]	benign	8	10623209	10623209	Human	2	name
11593823	CV303787	deletion	NM_178857.6(RP1L1):c.*27del	Occult macular dystrophy [RCV000352514]	benign	8	10606868	10606868	Human	2	name
11594139	CV303945	single nucleotide variant	NM_178857.6(RP1L1):c.-49G>A	Occult macular dystrophy [RCV000356159]	likely benign\|uncertain significance	8	10654927	10654927	Human	2	name
11655414	CV312139	single nucleotide variant	NM_178857.6(RP1L1):c.*99C>A	Occult macular dystrophy [RCV000325699]	uncertain significance	8	10606796	10606796	Human	2	name
11610505	CV312140	single nucleotide variant	NM_178857.6(RP1L1):c.*98C>T	Occult macular dystrophy [RCV000382698]\|not provided [RCV004712440]	benign	8	10606797	10606797	Human	2	name
11602928	CV312260	single nucleotide variant	NM_178857.6(RP1L1):c.*38C>G	Occult macular dystrophy [RCV000295346]	benign\|likely benign	8	10606857	10606857	Human	2	name
11603321	CV312538	single nucleotide variant	NM_178857.6(RP1L1):c.-12A>C	Occult macular dystrophy [RCV000298994]	uncertain significance	8	10623213	10623213	Human	2	name
11588228	CV303772	single nucleotide variant	NM_178857.6(RP1L1):c.*335T>G	Occult macular dystrophy [RCV000301462]\|not provided [RCV004712435]	benign	8	10606560	10606560	Human	2	name
11582633	CV303780	single nucleotide variant	NM_178857.6(RP1L1):c.*307T>C	Occult macular dystrophy [RCV000261286]	likely benign\|uncertain significance	8	10606588	10606588	Human	2	name
11594697	CV303781	single nucleotide variant	NM_178857.6(RP1L1):c.*265G>T	Occult macular dystrophy [RCV000361918]	uncertain significance	8	10606630	10606630	Human	2	name
11594489	CV303947	single nucleotide variant	NM_178857.6(RP1L1):c.-165G>A	Occult macular dystrophy [RCV000360007]\|not provided [RCV003430944]	likely benign\|uncertain significance	8	10655043	10655043	Human	2	name
11612063	CV307271	single nucleotide variant	NM_178857.6(RP1L1):c.*356C>G	Occult macular dystrophy [RCV000403105]	benign\|likely benign	8	10606539	10606539	Human	2	name
11599298	CV307273	single nucleotide variant	NM_178857.6(RP1L1):c.*244C>T	Occult macular dystrophy [RCV000264632]\|not provided [RCV004712437]	benign	8	10606651	10606651	Human	2	name
11605644	CV307277	single nucleotide variant	NM_178857.6(RP1L1):c.*226G>C	Occult macular dystrophy [RCV000322097]\|not provided [RCV004712438]	benign	8	10606669	10606669	Human	2	name
11599220	CV307484	single nucleotide variant	NM_178857.6(RP1L1):c.-123C>G	Occult macular dystrophy [RCV000263731]\|not provided [RCV004712478]	benign	8	10655001	10655001	Human	2	name
11607565	CV312129	single nucleotide variant	NM_178857.6(RP1L1):c.*513G>C	Occult macular dystrophy [RCV000344800]	benign\|likely benign	8	10606382	10606382	Human	2	name
11609518	CV312130	single nucleotide variant	NM_178857.6(RP1L1):c.*444T>A	Occult macular dystrophy [RCV000369061]	benign\|likely benign	8	10606451	10606451	Human	2	name
11610583	CV312133	single nucleotide variant	NM_178857.6(RP1L1):c.*200G>A	Occult macular dystrophy [RCV000383625]	benign\|likely benign	8	10606695	10606695	Human	2	name
11602501	CV312135	single nucleotide variant	NM_178857.6(RP1L1):c.*199C>T	Occult macular dystrophy [RCV000291611]\|not provided [RCV004712439]	benign	8	10606696	10606696	Human	2	name
11663147	CV312239	single nucleotide variant	NM_178857.6(RP1L1):c.*495G>A	Occult macular dystrophy [RCV000393147]	uncertain significance	8	10606400	10606400	Human	2	name
11604730	CV312241	single nucleotide variant	NM_178857.6(RP1L1):c.*461T>G	Occult macular dystrophy [RCV000311997]\|not provided [RCV004712434]	benign	8	10606434	10606434	Human	2	name
11608343	CV312245	single nucleotide variant	NM_178857.6(RP1L1):c.*330T>G	Occult macular dystrophy [RCV000353805]\|not provided [RCV004712436]	benign	8	10606565	10606565	Human	2	name
11605754	CV312247	single nucleotide variant	NM_178857.6(RP1L1):c.*266C>T	Occult macular dystrophy [RCV000323534]	benign\|likely benign	8	10606629	10606629	Human	2	name
11605546	CV312501	single nucleotide variant	NM_178857.6(RP1L1):c.-153C>A	Occult macular dystrophy [RCV000321196]	benign\|likely benign	8	10655031	10655031	Human	2	name
11599703	CV312542	single nucleotide variant	NM_178857.6(RP1L1):c.-208C>A	Occult macular dystrophy [RCV000267665]	uncertain significance	8	10655086	10655086	Human	2	name
28869217	CV898609	single nucleotide variant	NM_178857.6(RP1L1):c.*441A>C	Occult macular dystrophy [RCV001162989]	uncertain significance	8	10606454	10606454	Human	2	name
28873801	CV898610	single nucleotide variant	NM_178857.6(RP1L1):c.*367C>T	Occult macular dystrophy [RCV001165069]	uncertain significance	8	10606528	10606528	Human	2	name
28873804	CV898611	single nucleotide variant	NM_178857.6(RP1L1):c.*332G>A	Occult macular dystrophy [RCV001165070]	benign	8	10606563	10606563	Human	2	name
28873806	CV898612	single nucleotide variant	NM_178857.6(RP1L1):c.*291C>T	Occult macular dystrophy [RCV001165071]	uncertain significance	8	10606604	10606604	Human	2	name
28905311	CV898613	single nucleotide variant	NM_178857.6(RP1L1):c.*256G>A	Occult macular dystrophy [RCV001158358]	uncertain significance	8	10606639	10606639	Human	2	name
28905314	CV898614	single nucleotide variant	NM_178857.6(RP1L1):c.*191C>G	Occult macular dystrophy [RCV001158359]	uncertain significance	8	10606704	10606704	Human	2	name
28905316	CV898615	single nucleotide variant	NM_178857.6(RP1L1):c.*122G>C	Occult macular dystrophy [RCV001158360]	uncertain significance	8	10606773	10606773	Human	2	name
28907547	CV898747	single nucleotide variant	NM_178857.6(RP1L1):c.-143T>G	Occult macular dystrophy [RCV001159600]	uncertain significance	8	10655021	10655021	Human	2	name
28907549	CV898748	single nucleotide variant	NM_178857.6(RP1L1):c.-226C>A	Occult macular dystrophy [RCV001159601]	uncertain significance	8	10655104	10655104	Human	2	name
151807271	CV1426384	single nucleotide variant	NM_178857.6(RP1L1):c.609+5G>A	not provided [RCV001974453]	uncertain significance	8	10622588	10622588	Human		name
156327878	CV1982365	single nucleotide variant	NM_178857.6(RP1L1):c.751+9G>C	not provided [RCV002649658]	likely benign	8	10616437	10616437	Human		name
156231937	CV2039782	single nucleotide variant	NM_178857.6(RP1L1):c.751+6T>C	not provided [RCV002805347]	uncertain significance	8	10616440	10616440	Human		name
598210492	CV3896898	single nucleotide variant	NM_178857.6(RP1L1):c.-20+1G>A	Retinitis pigmentosa [RCV005358543]	uncertain significance	8	10654897	10654897	Human	2	name
13706421	CV537521	single nucleotide variant	NM_178857.6(RP1L1):c.751+5G>C	Occult macular dystrophy [RCV005357876]\|not provided [RCV000659099]	uncertain significance	8	10616441	10616441	Human	2	name
15189631	CV730530	single nucleotide variant	NM_178857.6(RP1L1):c.609+2T>C	Retinal dystrophy [RCV004818075]\|not provided [RCV000887874]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	10622591	10622591	Human	2	name
151817428	CV1435890	single nucleotide variant	NM_178857.6(RP1L1):c.609+20C>A	not provided [RCV001975395]	likely benign\|uncertain significance	8	10622573	10622573	Human		name
152038474	CV1530523	single nucleotide variant	NM_178857.6(RP1L1):c.610-19C>G	not provided [RCV002087600]	likely benign	8	10616606	10616606	Human		name
152031825	CV1546145	single nucleotide variant	NM_178857.6(RP1L1):c.610-20C>T	not provided [RCV002124638]	benign	8	10616607	10616607	Human		name
152154296	CV1579455	single nucleotide variant	NM_178857.6(RP1L1):c.610-17G>A	not provided [RCV002158640]	benign	8	10616604	10616604	Human		name
152164480	CV1588449	single nucleotide variant	NM_178857.6(RP1L1):c.609+16C>T	not provided [RCV002181544]	likely benign	8	10622577	10622577	Human		name
152146231	CV1599932	single nucleotide variant	NM_178857.6(RP1L1):c.610-18C>T	not provided [RCV002138842]	likely benign	8	10616605	10616605	Human		name
152084142	CV1648025	single nucleotide variant	NM_178857.6(RP1L1):c.610-14C>T	not provided [RCV002076762]	likely benign	8	10616601	10616601	Human		name
152098941	CV1650432	single nucleotide variant	NM_178857.6(RP1L1):c.610-16C>T	not provided [RCV002115071]	likely benign	8	10616603	10616603	Human		name
156388177	CV1955064	single nucleotide variant	NM_178857.6(RP1L1):c.609+20C>T	not provided [RCV002583647]	likely benign	8	10622573	10622573	Human		name
155954557	CV2014213	single nucleotide variant	NM_178857.6(RP1L1):c.609+18G>C	not provided [RCV002686196]	likely benign	8	10622575	10622575	Human		name
155910386	CV2069363	single nucleotide variant	NM_178857.6(RP1L1):c.610-17G>T	not provided [RCV002837665]	likely benign	8	10616604	10616604	Human		name
155910546	CV2088437	single nucleotide variant	NM_178857.6(RP1L1):c.751+17G>A	not provided [RCV002858453]	likely benign	8	10616429	10616429	Human		name
156078850	CV2161960	single nucleotide variant	NM_178857.6(RP1L1):c.609+13G>A	not provided [RCV003037814]	likely benign	8	10622580	10622580	Human		name
11606477	CV312467	single nucleotide variant	NM_178857.6(RP1L1):c.610-13G>A	Occult macular dystrophy [RCV000332216]\|Retinitis pigmentosa 88 [RCV001796016]\|not provided [RCV001516196]	benign	8	10616600	10616600	Human	3	name
597971127	CV3832758	single nucleotide variant	NM_178857.6(RP1L1):c.609+12G>A	not provided [RCV005166837]	likely benign	8	10622581	10622581	Human		name
156269903	CV2059782	deletion	NM_178857.6(RP1L1):c.610-668_639del	not provided [RCV002806623]	uncertain significance	8	10616558	10617255	Human		name
11611769	CV312535	single nucleotide variant	NM_178857.6(RP1L1):c.9C>T (p.Ser3=)	Occult macular dystrophy [RCV000399639]\|not provided [RCV002523625]	likely benign\|uncertain significance	8	10623193	10623193	Human	2	name
11604950	CV312497	single nucleotide variant	NM_178857.6(RP1L1):c.24C>G (p.Ala8=)	Occult macular dystrophy [RCV000314336]\|not provided [RCV002523624]	benign\|likely benign	8	10623178	10623178	Human	2	name
151761259	CV1349605	single nucleotide variant	NM_178857.6(RP1L1):c.78G>A (p.Ser26=)	not provided [RCV001949169]	likely benign\|uncertain significance	8	10623124	10623124	Human		name
152035907	CV1545860	single nucleotide variant	NM_178857.6(RP1L1):c.39C>T (p.His13=)	not provided [RCV002164933]	likely benign	8	10623163	10623163	Human		name
152161498	CV1568903	single nucleotide variant	NM_178857.6(RP1L1):c.69C>T (p.Arg23=)	Retinal dystrophy [RCV003889096]\|not provided [RCV002203509]	likely benign\|uncertain significance	8	10623133	10623133	Human	2	name
152035428	CV1590393	single nucleotide variant	NM_178857.6(RP1L1):c.72C>T (p.Thr24=)	not provided [RCV002205500]	likely benign	8	10623130	10623130	Human		name
152112467	CV1623647	single nucleotide variant	NM_178857.6(RP1L1):c.75C>G (p.Pro25=)	not provided [RCV002134660]	likely benign	8	10623127	10623127	Human		name
152074523	CV1638234	single nucleotide variant	NM_178857.6(RP1L1):c.99C>T (p.Ala33=)	not provided [RCV002192236]	likely benign	8	10623103	10623103	Human		name
156078025	CV2170939	single nucleotide variant	NM_178857.6(RP1L1):c.81C>T (p.Val27=)	not provided [RCV003020254]	likely benign	8	10623121	10623121	Human		name
156275673	CV2187709	single nucleotide variant	NM_178857.6(RP1L1):c.60T>G (p.Ser20=)	not provided [RCV003044609]	likely benign	8	10623142	10623142	Human		name
11597972	CV303944	single nucleotide variant	NM_178857.6(RP1L1):c.33G>A (p.Pro11=)	Occult macular dystrophy [RCV000400237]\|Retinal dystrophy [RCV003888892]\|not provided [RCV001511042]	benign\|likely benign	8	10623169	10623169	Human	4	name
405233162	CV3144897	single nucleotide variant	NM_178857.6(RP1L1):c.78G>T (p.Ser26=)	not provided [RCV003853154]	likely benign	8	10623124	10623124	Human		name
405262955	CV3188375	single nucleotide variant	NM_178857.6(RP1L1):c.3G>A (p.Met1Ile)	Retinal dystrophy [RCV003889439]	uncertain significance	8	10623199	10623199	Human	2	name
28868427	CV898741	single nucleotide variant	NM_178857.6(RP1L1):c.72C>A (p.Thr24=)	Occult macular dystrophy [RCV001162482]	uncertain significance	8	10623130	10623130	Human	2	name
28909763	CV898743	single nucleotide variant	NM_178857.6(RP1L1):c.45G>A (p.Glu15=)	Occult macular dystrophy [RCV001160857]\|not provided [RCV002559541]	benign\|likely benign	8	10623157	10623157	Human	2	name
127297893	CV1139084	single nucleotide variant	NM_178857.6(RP1L1):c.180C>T (p.Thr60=)	not provided [RCV001497872]	likely benign	8	10623022	10623022	Human		name
127330893	CV1139085	single nucleotide variant	NM_178857.6(RP1L1):c.168C>T (p.Arg56=)	not provided [RCV001488442]	likely benign	8	10623034	10623034	Human		name
151746272	CV1401215	single nucleotide variant	NM_178857.6(RP1L1):c.13C>G (p.Pro5Ala)	Inborn genetic diseases [RCV002657696]\|not provided [RCV002022853]	uncertain significance	8	10623189	10623189	Human	1	name
151740713	CV1425326	single nucleotide variant	NM_178857.6(RP1L1):c.234G>A (p.Val78=)	Retinal dystrophy [RCV003888919]\|not provided [RCV001926441]	likely benign\|uncertain significance	8	10622968	10622968	Human	2	name
151724624	CV1455488	single nucleotide variant	NM_178857.6(RP1L1):c.25C>T (p.Gln9Ter)	Retinal dystrophy [RCV003889004]\|not provided [RCV002020625]	likely pathogenic\|uncertain significance	8	10623177	10623177	Human	2	name
151741669	CV1494860	single nucleotide variant	NM_178857.6(RP1L1):c.22G>A (p.Ala8Thr)	not provided [RCV001968201]	uncertain significance	8	10623180	10623180	Human		name
152091039	CV1532031	single nucleotide variant	NM_178857.6(RP1L1):c.189C>T (p.Ala63=)	RP1L1-related disorder [RCV003911192]\|not provided [RCV002077715]	likely benign	8	10623013	10623013	Human	1	name , alternate_id
152061054	CV1540723	single nucleotide variant	NM_178857.6(RP1L1):c.192C>A (p.Leu64=)	not provided [RCV002110117]	likely benign	8	10623010	10623010	Human		name
152124503	CV1563232	single nucleotide variant	NM_178857.6(RP1L1):c.204C>G (p.Leu68=)	not provided [RCV002118271]	likely benign	8	10622998	10622998	Human		name
152118236	CV1602478	single nucleotide variant	NM_178857.6(RP1L1):c.186C>T (p.Ser62=)	not provided [RCV002117491]	likely benign	8	10623016	10623016	Human		name
156349911	CV1873311	single nucleotide variant	NM_178857.6(RP1L1):c.258C>T (p.Gly86=)	not provided [RCV003064762]	likely benign	8	10622944	10622944	Human		name
156116259	CV1952370	single nucleotide variant	NM_178857.6(RP1L1):c.159T>C (p.Val53=)	not provided [RCV002571685]	likely benign	8	10623043	10623043	Human		name
155944109	CV2003005	single nucleotide variant	NM_178857.6(RP1L1):c.11C>G (p.Thr4Ser)	not provided [RCV002685644]	uncertain significance	8	10623191	10623191	Human		name
155919621	CV2032065	single nucleotide variant	NM_178857.6(RP1L1):c.11C>T (p.Thr4Ile)	not provided [RCV002727317]	uncertain significance	8	10623191	10623191	Human		name
156030930	CV2052245	single nucleotide variant	NM_178857.6(RP1L1):c.231G>A (p.Gly77=)	not provided [RCV002821058]	likely benign	8	10622971	10622971	Human		name
156012402	CV2071892	single nucleotide variant	NM_178857.6(RP1L1):c.255G>C (p.Arg85=)	not provided [RCV002843945]	likely benign	8	10622947	10622947	Human		name
11593123	CV303934	single nucleotide variant	NM_178857.6(RP1L1):c.117C>G (p.Leu39=)	Occult macular dystrophy [RCV000345819]\|not provided [RCV002058691]	likely benign\|uncertain significance	8	10623085	10623085	Human	2	name
11605411	CV307481	single nucleotide variant	NM_178857.6(RP1L1):c.249A>G (p.Thr83=)	Occult macular dystrophy [RCV000319255]\|not provided [RCV000898994]\|not specified [RCV001700018]	benign\|likely benign	8	10622953	10622953	Human	2	name
11601716	CV312479	single nucleotide variant	NM_178857.6(RP1L1):c.168C>A (p.Arg56=)	Occult macular dystrophy [RCV000284868]\|not provided [RCV000659101]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	10623034	10623034	Human	2	name
11598996	CV312514	single nucleotide variant	NM_178857.6(RP1L1):c.273C>T (p.Ser91=)	Occult macular dystrophy [RCV000261780]\|Retinal dystrophy [RCV003888890]\|not provided [RCV000585376]\|not specified [RCV001700017]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	10622929	10622929	Human	4	name
11660875	CV312523	single nucleotide variant	NM_178857.6(RP1L1):c.23C>G (p.Ala8Gly)	Occult macular dystrophy [RCV000371263]	uncertain significance	8	10623179	10623179	Human	2	name
402518505	CV3135998	single nucleotide variant	NM_178857.6(RP1L1):c.216G>A (p.Val72=)	not provided [RCV003824624]	likely benign	8	10622986	10622986	Human		name
15165594	CV722789	single nucleotide variant	NM_178857.6(RP1L1):c.138T>C (p.Phe46=)	not provided [RCV000882447]	likely benign	8	10623064	10623064	Human		name
15106588	CV766518	single nucleotide variant	NM_178857.6(RP1L1):c.246C>T (p.Thr82=)	not provided [RCV000937809]	likely benign	8	10622956	10622956	Human		name
28907393	CV898735	single nucleotide variant	NM_178857.6(RP1L1):c.213C>T (p.Arg71=)	Occult macular dystrophy [RCV001159502]\|not provided [RCV001729803]\|not specified [RCV001729804]	benign\|likely benign	8	10622989	10622989	Human	2	name
28907394	CV898736	single nucleotide variant	NM_178857.6(RP1L1):c.198C>T (p.Asp66=)	Inborn genetic diseases [RCV004032840]\|Occult macular dystrophy [RCV001159503]\|RP1L1-related disorder [RCV003898154]\|not provided [RCV001434540]	benign\|likely benign	8	10623004	10623004	Human	3	name , alternate_id
28909783	CV898739	single nucleotide variant	NM_178857.6(RP1L1):c.156C>T (p.Ala52=)	Occult macular dystrophy [RCV001160871]\|RP1L1-related disorder [RCV003938532]\|Retinal dystrophy [RCV003890325]\|not provided [RCV001512086]\|not specified [RCV001700707]	benign\|likely benign	8	10623046	10623046	Human	4	name , alternate_id
28872708	CV898745	single nucleotide variant	NM_178857.6(RP1L1):c.11C>A (p.Thr4Asn)	Occult macular dystrophy [RCV001164527]\|not provided [RCV002559578]	uncertain significance	8	10623191	10623191	Human	2	name
126743061	CV1007736	single nucleotide variant	NM_178857.6(RP1L1):c.88G>T (p.Val30Phe)	not provided [RCV001314747]	uncertain significance	8	10623114	10623114	Human		name
126916127	CV1045221	single nucleotide variant	NM_178857.6(RP1L1):c.92C>T (p.Thr31Met)	Inborn genetic diseases [RCV002550128]\|not provided [RCV001371318]	uncertain significance	8	10623110	10623110	Human	1	name
151818858	CV1390639	single nucleotide variant	NM_178857.6(RP1L1):c.351C>T (p.Gly117=)	not provided [RCV001954557]	likely benign\|uncertain significance	8	10622851	10622851	Human		name
151852852	CV1406721	single nucleotide variant	NM_178857.6(RP1L1):c.71C>T (p.Thr24Ile)	Inborn genetic diseases [RCV002579677]\|Optic atrophy [RCV004816880]\|not provided [RCV002033406]	uncertain significance	8	10623131	10623131	Human	3	name
151879462	CV1412681	single nucleotide variant	NM_178857.6(RP1L1):c.41G>A (p.Arg14His)	not provided [RCV001926239]	uncertain significance	8	10623161	10623161	Human		name
151812754	CV1413770	single nucleotide variant	NM_178857.6(RP1L1):c.420C>T (p.Gly140=)	not provided [RCV002029133]	likely benign\|uncertain significance	8	10622782	10622782	Human		name
151744185	CV1427988	single nucleotide variant	NM_178857.6(RP1L1):c.40C>A (p.Arg14Ser)	not provided [RCV001926776]	uncertain significance	8	10623162	10623162	Human		name
151829026	CV1462282	single nucleotide variant	NM_178857.6(RP1L1):c.44A>G (p.Glu15Gly)	not provided [RCV001993522]	uncertain significance	8	10623158	10623158	Human		name
151812129	CV1510376	single nucleotide variant	NM_178857.6(RP1L1):c.83C>T (p.Thr28Ile)	not provided [RCV001918716]	uncertain significance	8	10623119	10623119	Human		name
152165659	CV1536718	single nucleotide variant	NM_178857.6(RP1L1):c.327C>T (p.Pro109=)	Inborn genetic diseases [RCV004958439]\|not provided [RCV002160492]	likely benign	8	10622875	10622875	Human	1	name
152124032	CV1562982	single nucleotide variant	NM_178857.6(RP1L1):c.714T>A (p.Ala238=)	not provided [RCV002118208]	likely benign	8	10616483	10616483	Human		name
152030218	CV1566088	single nucleotide variant	NM_178857.6(RP1L1):c.522T>C (p.Asn174=)	not provided [RCV002086070]	likely benign	8	10622680	10622680	Human		name
152033589	CV1572912	single nucleotide variant	NM_178857.6(RP1L1):c.429C>G (p.Ser143=)	not provided [RCV002187117]	likely benign	8	10622773	10622773	Human		name
152172147	CV1575741	single nucleotide variant	NM_178857.6(RP1L1):c.591C>T (p.Tyr197=)	not provided [RCV002183745]	likely benign	8	10622611	10622611	Human		name
152132680	CV1588107	single nucleotide variant	NM_178857.6(RP1L1):c.549C>T (p.Gly183=)	Retinal dystrophy [RCV004816949]\|not provided [RCV002199529]	likely benign\|uncertain significance	8	10622653	10622653	Human	2	name
152134304	CV1590404	single nucleotide variant	NM_178857.6(RP1L1):c.681C>G (p.Thr227=)	not provided [RCV002218500]	likely benign	8	10616516	10616516	Human		name
152170841	CV1592605	single nucleotide variant	NM_178857.6(RP1L1):c.324G>A (p.Lys108=)	not provided [RCV002161905]	likely benign	8	10622878	10622878	Human		name
152123060	CV1603076	single nucleotide variant	NM_178857.6(RP1L1):c.378T>C (p.Ala126=)	not provided [RCV002198316]	likely benign	8	10622824	10622824	Human		name
152162462	CV1606320	single nucleotide variant	NM_178857.6(RP1L1):c.396C>T (p.Val132=)	not provided [RCV002181164]	likely benign	8	10622806	10622806	Human		name
152061661	CV1611215	single nucleotide variant	NM_178857.6(RP1L1):c.618G>A (p.Ser206=)	not provided [RCV002146848]	likely benign	8	10616579	10616579	Human		name
152122706	CV1613591	single nucleotide variant	NM_178857.6(RP1L1):c.385T>C (p.Leu129=)	not provided [RCV002081779]	likely benign	8	10622817	10622817	Human		name
152144658	CV1616319	single nucleotide variant	NM_178857.6(RP1L1):c.303C>T (p.Cys101=)	not provided [RCV002120850]	likely benign	8	10622899	10622899	Human		name
152174212	CV1622222	single nucleotide variant	NM_178857.6(RP1L1):c.546C>T (p.Leu182=)	not provided [RCV002184435]	likely benign	8	10622656	10622656	Human		name
152077251	CV1632854	single nucleotide variant	NM_178857.6(RP1L1):c.537C>T (p.Ala179=)	not provided [RCV002170085]	likely benign	8	10622665	10622665	Human		name
152146916	CV1635559	single nucleotide variant	NM_178857.6(RP1L1):c.681C>T (p.Thr227=)	not provided [RCV002201373]	likely benign	8	10616516	10616516	Human		name
152043905	CV1637759	single nucleotide variant	NM_178857.6(RP1L1):c.619C>T (p.Leu207=)	not provided [RCV002144858]	likely benign	8	10616578	10616578	Human		name
152168200	CV1645095	single nucleotide variant	NM_178857.6(RP1L1):c.453C>T (p.Pro151=)	not provided [RCV002142358]	likely benign	8	10622749	10622749	Human		name
152098286	CV1650321	single nucleotide variant	NM_178857.6(RP1L1):c.510C>T (p.Leu170=)	not provided [RCV002114990]	likely benign	8	10622692	10622692	Human		name
152145978	CV1658450	single nucleotide variant	NM_178857.6(RP1L1):c.498G>A (p.Gln166=)	RP1L1-related disorder [RCV003968830]\|not provided [RCV002220052]	likely benign	8	10622704	10622704	Human	1	name , alternate_id
152026177	CV1666246	single nucleotide variant	NM_178857.6(RP1L1):c.600C>T (p.Ser200=)	not provided [RCV002084712]	likely benign	8	10622602	10622602	Human		name
156388569	CV1875820	single nucleotide variant	NM_178857.6(RP1L1):c.633G>A (p.Leu211=)	not provided [RCV003051077]	likely benign	8	10616564	10616564	Human		name
156102988	CV1907241	single nucleotide variant	NM_178857.6(RP1L1):c.564C>A (p.Leu188=)	not provided [RCV003080675]	likely benign	8	10622638	10622638	Human		name
156439225	CV1944159	single nucleotide variant	NM_178857.6(RP1L1):c.672C>T (p.Ala224=)	not provided [RCV003109183]	likely benign	8	10616525	10616525	Human		name
156447464	CV1945418	single nucleotide variant	NM_178857.6(RP1L1):c.708C>T (p.Ser236=)	not provided [RCV003118992]	likely benign	8	10616489	10616489	Human		name
156444833	CV1948877	single nucleotide variant	NM_178857.6(RP1L1):c.36C>A (p.Ser12Arg)	Inborn genetic diseases [RCV004961183]\|not provided [RCV003115763]	likely benign	8	10623166	10623166	Human	1	name
156445934	CV1952185	single nucleotide variant	NM_178857.6(RP1L1):c.330C>G (p.Pro110=)	not provided [RCV003116897]	likely benign	8	10622872	10622872	Human		name
156220366	CV1965228	single nucleotide variant	NM_178857.6(RP1L1):c.29C>A (p.Ala10Asp)	Inborn genetic diseases [RCV004064539]\|not provided [RCV002596433]	uncertain significance	8	10623173	10623173	Human	1	name
156138003	CV1973466	single nucleotide variant	NM_178857.6(RP1L1):c.612G>A (p.Val204=)	not provided [RCV002593730]	likely benign	8	10616585	10616585	Human		name
156071897	CV2018583	single nucleotide variant	NM_178857.6(RP1L1):c.429C>T (p.Ser143=)	not provided [RCV002705711]	likely benign	8	10622773	10622773	Human		name
156322509	CV2022236	single nucleotide variant	NM_178857.6(RP1L1):c.35G>T (p.Ser12Ile)	not provided [RCV002717189]	uncertain significance	8	10623167	10623167	Human		name
156196495	CV2024364	single nucleotide variant	NM_178857.6(RP1L1):c.37C>T (p.His13Tyr)	not provided [RCV002711255]	uncertain significance	8	10623165	10623165	Human		name
155983770	CV2030276	single nucleotide variant	NM_178857.6(RP1L1):c.426C>T (p.Ser142=)	not provided [RCV002755444]	likely benign	8	10622776	10622776	Human		name
156093578	CV2030754	single nucleotide variant	NM_178857.6(RP1L1):c.435G>A (p.Arg145=)	not provided [RCV002761039]	likely benign	8	10622767	10622767	Human		name
156217214	CV2035414	single nucleotide variant	NM_178857.6(RP1L1):c.330C>T (p.Pro110=)	not provided [RCV002766848]	likely benign	8	10622872	10622872	Human		name
156277343	CV2053661	single nucleotide variant	NM_178857.6(RP1L1):c.86A>T (p.Lys29Met)	not provided [RCV002806872]	uncertain significance	8	10623116	10623116	Human		name
156382036	CV2118091	single nucleotide variant	NM_178857.6(RP1L1):c.730C>T (p.Leu244=)	not provided [RCV002943213]	likely benign	8	10616467	10616467	Human		name
156146036	CV2130808	single nucleotide variant	NM_178857.6(RP1L1):c.660C>T (p.Ala220=)	not provided [RCV002982484]	likely benign	8	10616537	10616537	Human		name
156092975	CV2135638	single nucleotide variant	NM_178857.6(RP1L1):c.348A>T (p.Pro116=)	not provided [RCV003001901]	likely benign	8	10622854	10622854	Human		name
156367315	CV2177762	single nucleotide variant	NM_178857.6(RP1L1):c.333G>A (p.Lys111=)	not provided [RCV003049436]	likely benign	8	10622869	10622869	Human		name
156136089	CV2188162	single nucleotide variant	NM_178857.6(RP1L1):c.537C>G (p.Ala179=)	not provided [RCV003056007]	likely benign	8	10622665	10622665	Human		name
329848024	CV2667643	single nucleotide variant	NM_178857.6(RP1L1):c.94C>T (p.Pro32Ser)	Retinal dystrophy [RCV003889285]\|not provided [RCV003229210]	uncertain significance	8	10623108	10623108	Human	2	name
401923915	CV2820883	single nucleotide variant	NM_178857.6(RP1L1):c.777G>A (p.Pro259=)	not provided [RCV003435451]	likely benign	8	10613321	10613321	Human		name
401909192	CV2820884	single nucleotide variant	NM_178857.6(RP1L1):c.489C>T (p.Arg163=)	not provided [RCV003423906]	likely benign	8	10622713	10622713	Human		name
405218332	CV2968685	single nucleotide variant	NM_178857.6(RP1L1):c.55C>A (p.Pro19Thr)	not provided [RCV003680319]	uncertain significance	8	10623147	10623147	Human		name
11660000	CV303912	single nucleotide variant	NM_178857.6(RP1L1):c.675C>T (p.Phe225=)	Occult macular dystrophy [RCV000363299]\|not provided [RCV002524538]	likely benign\|uncertain significance	8	10616522	10616522	Human	2	name
11587046	CV303943	single nucleotide variant	NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu)	Inborn genetic diseases [RCV002523623]\|Occult macular dystrophy [RCV000292118]\|Retinal dystrophy [RCV003888891]\|not provided [RCV000932448]	benign\|likely benign\|uncertain significance	8	10623125	10623125	Human	5	name
11603110	CV307431	single nucleotide variant	NM_178857.6(RP1L1):c.960C>T (p.Ser320=)	Occult macular dystrophy [RCV000296670]	uncertain significance	8	10613138	10613138	Human	2	name
11606759	CV307433	single nucleotide variant	NM_178857.6(RP1L1):c.954C>T (p.Asp318=)	Occult macular dystrophy [RCV000335272]\|Occult macular dystrophy [RCV002488808]\|not provided [RCV004712475]\|not specified [RCV001700097]	benign\|likely benign	8	10613144	10613144	Human	2	name
11599676	CV307442	single nucleotide variant	NM_178857.6(RP1L1):c.792G>A (p.Ser264=)	Occult macular dystrophy [RCV000267719]	benign\|likely benign	8	10613306	10613306	Human	2	name
11609892	CV307448	single nucleotide variant	NM_178857.6(RP1L1):c.501A>G (p.Thr167=)	Occult macular dystrophy [RCV000374298]\|Retinal dystrophy [RCV003888887]\|not provided [RCV001521103]	benign	8	10622701	10622701	Human	4	name
11601403	CV307458	single nucleotide variant	NM_178857.6(RP1L1):c.489C>A (p.Arg163=)	Occult macular dystrophy [RCV000282132]\|not provided [RCV000960262]\|not specified [RCV001700098]	benign\|likely benign	8	10622713	10622713	Human	2	name
11607945	CV307483	single nucleotide variant	NM_178857.6(RP1L1):c.40C>G (p.Arg14Gly)	Occult macular dystrophy [RCV000349380]	uncertain significance	8	10623162	10623162	Human	2	name
11604042	CV312469	single nucleotide variant	NM_178857.6(RP1L1):c.444T>G (p.Leu148=)	Occult macular dystrophy [RCV000305541]\|Occult macular dystrophy [RCV002488810]\|not provided [RCV000903527]\|not specified [RCV001700357]	benign\|likely benign	8	10622758	10622758	Human	2	name
11611082	CV312478	single nucleotide variant	NM_178857.6(RP1L1):c.420C>A (p.Gly140=)	Occult macular dystrophy [RCV000390022]\|not provided [RCV000956559]\|not specified [RCV001700099]	benign\|likely benign	8	10622782	10622782	Human	2	name
405105557	CV3139909	single nucleotide variant	NM_178857.6(RP1L1):c.336C>A (p.Thr112=)	not provided [RCV003835320]	likely benign	8	10622866	10622866	Human		name
405195732	CV3168071	single nucleotide variant	NM_178857.6(RP1L1):c.423C>G (p.Thr141=)	not provided [RCV003860203]	likely benign	8	10622779	10622779	Human		name
405254768	CV3175526	single nucleotide variant	NM_178857.6(RP1L1):c.88G>A (p.Val30Ile)	not provided [RCV003871793]	uncertain significance	8	10623114	10623114	Human		name
405262937	CV3188363	single nucleotide variant	NM_178857.6(RP1L1):c.813G>T (p.Thr271=)	Retinal dystrophy [RCV003889427]	uncertain significance	8	10613285	10613285	Human	2	name
405262938	CV3188364	single nucleotide variant	NM_178857.6(RP1L1):c.732G>A (p.Leu244=)	Retinal dystrophy [RCV003889428]	uncertain significance	8	10616465	10616465	Human	2	name
405262943	CV3188367	single nucleotide variant	NM_178857.6(RP1L1):c.570C>G (p.Arg190=)	Retinal dystrophy [RCV003889431]	uncertain significance	8	10622632	10622632	Human	2	name
405262945	CV3188368	single nucleotide variant	NM_178857.6(RP1L1):c.501A>T (p.Thr167=)	Retinal dystrophy [RCV003889432]	uncertain significance	8	10622701	10622701	Human	2	name
405294258	CV3214712	single nucleotide variant	NM_178857.6(RP1L1):c.900G>A (p.Ser300=)	RP1L1-related disorder [RCV003934145]\|not provided [RCV004810619]	likely benign	8	10613198	10613198	Human	1	name , alternate_id
408379058	CV3517891	single nucleotide variant	NM_178857.6(RP1L1):c.801G>C (p.Pro267=)	RP1L1-related disorder [RCV004752520]	likely benign	8	10613297	10613297	Human		name , trait , alternate_id
597719553	CV3587033	single nucleotide variant	NM_178857.6(RP1L1):c.73C>T (p.Pro25Ser)	Inborn genetic diseases [RCV004960320]	uncertain significance	8	10623129	10623129	Human	1	name
597852615	CV3737659	single nucleotide variant	NM_178857.6(RP1L1):c.31C>T (p.Pro11Ser)	not provided [RCV005066432]	uncertain significance	8	10623171	10623171	Human		name
597856668	CV3748077	single nucleotide variant	NM_178857.6(RP1L1):c.46T>C (p.Cys16Arg)	not provided [RCV005066899]	uncertain significance	8	10623156	10623156	Human		name
597928842	CV3749187	single nucleotide variant	NM_178857.6(RP1L1):c.89T>C (p.Val30Ala)	not provided [RCV005075643]	uncertain significance	8	10623113	10623113	Human		name
597959227	CV3752064	single nucleotide variant	NM_178857.6(RP1L1):c.426C>A (p.Ser142=)	not provided [RCV005081194]	likely benign	8	10622776	10622776	Human		name
597887946	CV3787655	single nucleotide variant	NM_178857.6(RP1L1):c.73C>G (p.Pro25Ala)	not provided [RCV005125221]	uncertain significance	8	10623129	10623129	Human		name
597974653	CV3802299	single nucleotide variant	NM_178857.6(RP1L1):c.300C>T (p.Gly100=)	not provided [RCV005144076]	likely benign	8	10622902	10622902	Human		name
597914741	CV3833969	single nucleotide variant	NM_178857.6(RP1L1):c.639C>T (p.Ser213=)	not provided [RCV005183328]	likely benign	8	10616558	10616558	Human		name
12905966	CV413769	single nucleotide variant	NM_178857.6(RP1L1):c.906G>A (p.Pro302=)	Occult macular dystrophy [RCV001164312]\|not provided [RCV000488243]	benign\|likely benign\|uncertain significance	8	10613192	10613192	Human	2	name
15149902	CV711228	single nucleotide variant	NM_178857.6(RP1L1):c.594G>A (p.Thr198=)	Occult macular dystrophy [RCV001160759]\|RP1L1-related disorder [RCV003943162]\|not provided [RCV000967841]	benign\|likely benign	8	10622608	10622608	Human	2	name , alternate_id
15188268	CV736394	single nucleotide variant	NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu)	Occult macular dystrophy [RCV001164526]\|Retinal dystrophy [RCV003890053]\|not provided [RCV000909321]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	10623170	10623170	Human	4	name
15163607	CV750875	single nucleotide variant	NM_178857.6(RP1L1):c.618G>T (p.Ser206=)	not provided [RCV000926168]	likely benign	8	10616579	10616579	Human		name
15116059	CV750876	single nucleotide variant	NM_178857.6(RP1L1):c.354G>A (p.Arg118=)	not provided [RCV000917558]	likely benign	8	10622848	10622848	Human		name
25318787	CV816399	single nucleotide variant	NM_178857.6(RP1L1):c.56C>A (p.Pro19His)	Retinitis pigmentosa 88 [RCV001027884]	pathogenic	8	10623146	10623146	Human	1	name
26909924	CV856586	single nucleotide variant	NM_178857.6(RP1L1):c.32C>G (p.Pro11Arg)	Retinal dystrophy [RCV001074154]	uncertain significance	8	10623170	10623170	Human	2	name
8632760	CV87975	single nucleotide variant	NM_178857.5(RP1L1):c.579G>A (p.Val193=)	Malignant melanoma [RCV000068067]	not provided	8	10622623	10622623	Human		name
28872265	CV898728	single nucleotide variant	NM_178857.6(RP1L1):c.858C>T (p.Gly286=)	Occult macular dystrophy [RCV001164314]	uncertain significance	8	10613240	10613240	Human	2	name
28909623	CV898730	single nucleotide variant	NM_178857.6(RP1L1):c.631C>T (p.Leu211=)	Occult macular dystrophy [RCV001160758]\|Retinal dystrophy [RCV003890324]\|not provided [RCV002070989]	likely benign\|uncertain significance	8	10616566	10616566	Human	4	name
28868428	CV898742	single nucleotide variant	NM_178857.6(RP1L1):c.67C>T (p.Arg23Cys)	Occult macular dystrophy [RCV001162483]\|not provided [RCV001296636]	likely benign\|uncertain significance	8	10623135	10623135	Human	2	name
28868431	CV898744	single nucleotide variant	NM_178857.6(RP1L1):c.40C>T (p.Arg14Cys)	Inborn genetic diseases [RCV002558549]\|Occult macular dystrophy [RCV001162484]\|not provided [RCV002067979]	likely benign\|uncertain significance	8	10623162	10623162	Human	3	name
126745586	CV1007735	single nucleotide variant	NM_178857.6(RP1L1):c.206C>T (p.Ser69Phe)	Inborn genetic diseases [RCV004034339]\|not provided [RCV001315091]	uncertain significance	8	10622996	10622996	Human	1	name
126753409	CV1036085	single nucleotide variant	NM_178857.6(RP1L1):c.196G>C (p.Asp66His)	Retinitis pigmentosa 88 [RCV001352996]	likely pathogenic	8	10623006	10623006	Human	1	name
126918219	CV1045220	single nucleotide variant	NM_178857.6(RP1L1):c.194T>C (p.Met65Thr)	Inborn genetic diseases [RCV002547775]\|Retinal dystrophy [RCV004815459]\|not provided [RCV001361602]	uncertain significance	8	10623008	10623008	Human	3	name
150487688	CV1274150	single nucleotide variant	NM_178857.6(RP1L1):c.1317C>A (p.Gly439=)	not provided [RCV001727923]\|not specified [RCV001699607]	benign\|likely benign	8	10612781	10612781	Human		name
150487908	CV1274464	single nucleotide variant	NM_178857.6(RP1L1):c.1509C>T (p.Pro503=)	not provided [RCV001727942]\|not specified [RCV001699680]	benign\|likely benign	8	10612589	10612589	Human		name
150554955	CV1309945	single nucleotide variant	NM_178857.6(RP1L1):c.236G>A (p.Arg79His)	Retinal dystrophy [RCV003888320]\|not provided [RCV001861125]	uncertain significance	8	10622966	10622966	Human	2	name
150544838	CV1315275	duplication	NM_178857.6(RP1L1):c.300dup (p.Cys101fs)	not provided [RCV001783690]	likely pathogenic	8	10622901	10622902	Human		name
151348404	CV1324022	duplication	NM_178857.6(RP1L1):c.330dup (p.Lys111fs)	Retinal dystrophy [RCV003888323]\|Retinitis pigmentosa 88 [RCV001807934]\|not provided [RCV001869574]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	10622871	10622872	Human	3	name
151812285	CV1359601	single nucleotide variant	NM_178857.6(RP1L1):c.280G>C (p.Glu94Gln)	not provided [RCV001991950]	uncertain significance	8	10622922	10622922	Human		name
151812831	CV1373070	single nucleotide variant	NM_178857.6(RP1L1):c.170C>T (p.Ala57Val)	not provided [RCV001900119]	uncertain significance	8	10623032	10623032	Human		name
151714302	CV1379861	single nucleotide variant	NM_178857.6(RP1L1):c.214G>A (p.Val72Met)	not provided [RCV001964911]	uncertain significance	8	10622988	10622988	Human		name
151820331	CV1388562	single nucleotide variant	NM_178857.6(RP1L1):c.158T>C (p.Val53Ala)	not provided [RCV001975663]	uncertain significance	8	10623044	10623044	Human		name
151720548	CV1396670	single nucleotide variant	NM_178857.6(RP1L1):c.195G>A (p.Met65Ile)	not provided [RCV001891030]	uncertain significance	8	10623007	10623007	Human		name
151785663	CV1397175	single nucleotide variant	NM_178857.6(RP1L1):c.257G>A (p.Gly86Asp)	Inborn genetic diseases [RCV004955846]\|not provided [RCV001930869]	uncertain significance	8	10622945	10622945	Human	1	name
151801942	CV1404764	single nucleotide variant	NM_178857.6(RP1L1):c.179C>T (p.Thr60Ile)	not provided [RCV001932392]	uncertain significance	8	10623023	10623023	Human		name
151764766	CV1407710	single nucleotide variant	NM_178857.6(RP1L1):c.199G>A (p.Glu67Lys)	not provided [RCV002044667]	uncertain significance	8	10623003	10623003	Human		name
151821118	CV1408619	single nucleotide variant	NM_178857.6(RP1L1):c.245C>G (p.Thr82Ser)	not provided [RCV002013391]	uncertain significance	8	10622957	10622957	Human		name
151770475	CV1410789	single nucleotide variant	NM_178857.6(RP1L1):c.232G>A (p.Val78Met)	not provided [RCV001971133]	uncertain significance	8	10622970	10622970	Human		name
151869933	CV1412286	single nucleotide variant	NM_178857.6(RP1L1):c.131C>T (p.Pro44Leu)	not provided [RCV001885010]	uncertain significance	8	10623071	10623071	Human		name
151757354	CV1414595	single nucleotide variant	NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe)	Occult macular dystrophy [RCV002478178]\|not provided [RCV001894929]	uncertain significance	8	10623000	10623000	Human	2	name
151719212	CV1421914	single nucleotide variant	NM_178857.6(RP1L1):c.121C>T (p.Arg41Ter)	not provided [RCV001909461]	uncertain significance	8	10623081	10623081	Human		name
151799369	CV1426251	single nucleotide variant	NM_178857.6(RP1L1):c.157G>A (p.Val53Ile)	Inborn genetic diseases [RCV004042378]\|not provided [RCV001990809]	uncertain significance	8	10623045	10623045	Human	1	name
151873286	CV1430204	single nucleotide variant	NM_178857.6(RP1L1):c.188C>A (p.Ala63Asp)	not provided [RCV002035950]	uncertain significance	8	10623014	10623014	Human		name
151764362	CV1462369	single nucleotide variant	NM_178857.6(RP1L1):c.230G>A (p.Gly77Glu)	not provided [RCV001970543]	uncertain significance	8	10622972	10622972	Human		name
151754389	CV1467627	single nucleotide variant	NM_178857.6(RP1L1):c.250C>G (p.Pro84Ala)	not provided [RCV001948475]	uncertain significance	8	10622952	10622952	Human		name
151828674	CV1468621	deletion	NM_178857.6(RP1L1):c.454del (p.Arg152fs)	not provided [RCV002030584]	uncertain significance	8	10622748	10622748	Human		name
151796225	CV1476357	deletion	NM_178857.6(RP1L1):c.435del (p.Lys146fs)	not provided [RCV001931889]	conflicting interpretations of pathogenicity\|uncertain significance	8	10622767	10622767	Human		name
151713728	CV1476720	single nucleotide variant	NM_178857.6(RP1L1):c.181T>G (p.Phe61Val)	Inborn genetic diseases [RCV004953288]\|not provided [RCV001908535]	uncertain significance	8	10623021	10623021	Human	1	name
151883985	CV1476787	single nucleotide variant	NM_178857.6(RP1L1):c.262C>T (p.His88Tyr)	Retinal dystrophy [RCV003888383]\|not provided [RCV001887050]	uncertain significance	8	10622940	10622940	Human	2	name
151876156	CV1483378	single nucleotide variant	NM_178857.6(RP1L1):c.149G>A (p.Arg50His)	not provided [RCV001907088]	uncertain significance	8	10623053	10623053	Human		name
151792165	CV1490100	deletion	NM_178857.6(RP1L1):c.330del (p.Lys111fs)	not provided [RCV001952151]	uncertain significance	8	10622872	10622872	Human		name
9480350	CV152883	single nucleotide variant	NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys)	Occult macular dystrophy [RCV005394497]\|Retinal dystrophy [RCV003888569]\|Retinitis pigmentosa [RCV000132696]\|not provided [RCV001857476]	likely pathogenic\|uncertain significance	8	10622967	10622967	Human	6	name
152158056	CV1541908	single nucleotide variant	NM_178857.6(RP1L1):c.169G>A (p.Ala57Thr)	not provided [RCV002103254]	benign	8	10623033	10623033	Human		name
8556687	CV17232	single nucleotide variant	NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	Occult macular dystrophy [RCV000002277]\|Optic atrophy [RCV004814802]\|Retinal dystrophy [RCV001074376]\|Retinitis pigmentosa 88 [RCV001197672]\|not provided [RCV000726920]	pathogenic\|likely pathogenic\|risk factor\|conflicting interpretations of pathogenicity\|uncertain significance	8	10623069	10623069	Human	7	name
155749528	CV1773897	single nucleotide variant	NM_178857.6(RP1L1):c.142G>C (p.Gly48Arg)	not provided [RCV002304745]	uncertain significance	8	10623060	10623060	Human		name
155716358	CV1780481	single nucleotide variant	NM_178857.6(RP1L1):c.278T>G (p.Leu93Arg)	not provided [RCV002306086]	uncertain significance	8	10622924	10622924	Human		name
156408967	CV1922131	duplication	NM_178857.6(RP1L1):c.460dup (p.Ile154fs)	not provided [RCV002607413]	uncertain significance	8	10622741	10622742	Human		name
156203027	CV1925824	single nucleotide variant	NM_178857.6(RP1L1):c.256G>A (p.Gly86Ser)	not provided [RCV002643704]	uncertain significance	8	10622946	10622946	Human		name
156439040	CV1943906	single nucleotide variant	NM_178857.6(RP1L1):c.163C>T (p.Gln55Ter)	not provided [RCV003108993]	uncertain significance	8	10623039	10623039	Human		name
156387342	CV1979864	single nucleotide variant	NM_178857.6(RP1L1):c.245C>T (p.Thr82Ile)	not provided [RCV002604379]	uncertain significance	8	10622957	10622957	Human		name
156217174	CV1980373	single nucleotide variant	NM_178857.6(RP1L1):c.220C>G (p.Leu74Val)	not provided [RCV002626308]	uncertain significance	8	10622982	10622982	Human		name
156294153	CV1995093	single nucleotide variant	NM_178857.6(RP1L1):c.198C>G (p.Asp66Glu)	not provided [RCV002670884]	uncertain significance	8	10623004	10623004	Human		name
156029043	CV2058991	single nucleotide variant	NM_178857.6(RP1L1):c.187G>A (p.Ala63Thr)	not provided [RCV002795970]	uncertain significance	8	10623015	10623015	Human		name
156379037	CV2117815	single nucleotide variant	NM_178857.6(RP1L1):c.167G>A (p.Arg56His)	not provided [RCV002942994]	uncertain significance	8	10623035	10623035	Human		name
156035926	CV2124381	single nucleotide variant	NM_178857.6(RP1L1):c.197A>G (p.Asp66Gly)	not provided [RCV002923713]	uncertain significance	8	10623005	10623005	Human		name
156302493	CV2129573	duplication	NM_178857.6(RP1L1):c.454dup (p.Arg152fs)	not provided [RCV002962208]	uncertain significance	8	10622747	10622748	Human		name
156371094	CV2188682	single nucleotide variant	NM_178857.6(RP1L1):c.274G>T (p.Ala92Ser)	not provided [RCV003066291]	uncertain significance	8	10622928	10622928	Human		name
329392218	CV2470481	single nucleotide variant	NM_178857.6(RP1L1):c.193A>T (p.Met65Leu)	Inborn genetic diseases [RCV003217657]	uncertain significance	8	10623009	10623009	Human	1	name
329353255	CV2477044	single nucleotide variant	NM_178857.6(RP1L1):c.2754G>A (p.Gly918=)	not provided [RCV003223276]	likely benign	8	10611344	10611344	Human		name
401886624	CV2776662	single nucleotide variant	NM_178857.6(RP1L1):c.136T>C (p.Phe46Leu)	Inborn genetic diseases [RCV003366890]	uncertain significance	8	10623066	10623066	Human	1	name
401923909	CV2820878	single nucleotide variant	NM_178857.6(RP1L1):c.2397G>A (p.Thr799=)	not provided [RCV003435447]	likely benign	8	10611701	10611701	Human		name
401923911	CV2820879	single nucleotide variant	NM_178857.6(RP1L1):c.2379G>T (p.Gly793=)	not provided [RCV003435448]	likely benign	8	10611719	10611719	Human		name
401909190	CV2820880	single nucleotide variant	NM_178857.6(RP1L1):c.1539C>T (p.Gly513=)	not provided [RCV003423904]	likely benign	8	10612559	10612559	Human		name
404991532	CV2995074	single nucleotide variant	NM_178857.6(RP1L1):c.172T>A (p.Phe58Ile)	not provided [RCV003692261]	uncertain significance	8	10623030	10623030	Human		name
405219369	CV3035063	single nucleotide variant	NM_178857.6(RP1L1):c.154G>A (p.Ala52Thr)	not provided [RCV003709741]	uncertain significance	8	10623048	10623048	Human		name
11588536	CV303868	single nucleotide variant	NM_178857.6(RP1L1):c.2850C>T (p.Arg950=)	Occult macular dystrophy [RCV000303637]\|not provided [RCV002512093]	benign\|likely benign	8	10611248	10611248	Human	2	name
11590274	CV303879	single nucleotide variant	NM_178857.6(RP1L1):c.2469C>T (p.Ser823=)	Occult macular dystrophy [RCV000317698]\|RP1L1-related disorder [RCV003970061]	likely benign	8	10611629	10611629	Human	2	name , alternate_id
11588871	CV303884	single nucleotide variant	NM_178857.6(RP1L1):c.2319G>A (p.Pro773=)	Occult macular dystrophy [RCV000306300]\|not provided [RCV001727708]\|not specified [RCV001699399]	benign\|likely benign	8	10611779	10611779	Human	2	name
11591772	CV303886	single nucleotide variant	NM_178857.6(RP1L1):c.2157G>C (p.Leu719=)	Occult macular dystrophy [RCV000332437]	likely benign	8	10611941	10611941	Human	2	name
11586781	CV303895	single nucleotide variant	NM_178857.6(RP1L1):c.1779G>A (p.Thr593=)	Occult macular dystrophy [RCV000290129]\|not provided [RCV004712472]	benign\|likely benign	8	10612319	10612319	Human	2	name
11635110	CV303920	duplication	NM_178857.6(RP1L1):c.416dup (p.Gly140fs)	Occult macular dystrophy [RCV000308962]\|Retinal dystrophy [RCV003888888]\|not provided [RCV000893307]\|not specified [RCV001729566]	benign\|likely benign\|uncertain significance	8	10622785	10622786	Human	4	name
11590885	CV303927	single nucleotide variant	NM_178857.6(RP1L1):c.166C>T (p.Arg56Cys)	Occult macular dystrophy [RCV000323563]\|not provided [RCV000948801]	benign	8	10623036	10623036	Human	2	name
405202027	CV3066954	single nucleotide variant	NM_178857.6(RP1L1):c.178A>G (p.Thr60Ala)	not provided [RCV003730828]	uncertain significance	8	10623024	10623024	Human		name
11609119	CV307387	single nucleotide variant	NM_178857.6(RP1L1):c.2751G>A (p.Ala917=)	Occult macular dystrophy [RCV000364288]\|RP1L1-related disorder [RCV004751500]	likely benign\|uncertain significance	8	10611347	10611347	Human	2	name , alternate_id
11611014	CV307390	single nucleotide variant	NM_178857.6(RP1L1):c.2568G>A (p.Pro856=)	Occult macular dystrophy [RCV000389551]	benign\|likely benign	8	10611530	10611530	Human	2	name
11609219	CV307394	single nucleotide variant	NM_178857.6(RP1L1):c.2316G>A (p.Ser772=)	Occult macular dystrophy [RCV000365700]\|Retinal dystrophy [RCV003888875]\|not provided [RCV004712468]	benign	8	10611782	10611782	Human	4	name
11598735	CV307398	single nucleotide variant	NM_178857.6(RP1L1):c.2061G>C (p.Pro687=)	Occult macular dystrophy [RCV000259749]\|not provided [RCV003311789]	likely benign	8	10612037	10612037	Human	2	name
11605436	CV307399	single nucleotide variant	NM_178857.6(RP1L1):c.2049C>T (p.Thr683=)	Occult macular dystrophy [RCV000319576]\|not provided [RCV004712471]	benign\|likely benign	8	10612049	10612049	Human	2	name
11607493	CV307400	single nucleotide variant	NM_178857.6(RP1L1):c.1806G>C (p.Thr602=)	Occult macular dystrophy [RCV000343967]\|not provided [RCV001726147]\|not specified [RCV001700356]	benign\|likely benign\|uncertain significance	8	10612292	10612292	Human	2	name
11611619	CV307405	single nucleotide variant	NM_178857.6(RP1L1):c.1791C>T (p.Gly597=)	Occult macular dystrophy [RCV000397861]\|Retinal dystrophy [RCV003888877]\|Retinitis pigmentosa 88 [RCV001796013]\|not provided [RCV001709634]\|not specified [RCV001528277]	benign	8	10612307	10612307	Human	5	name
11607772	CV307408	single nucleotide variant	NM_178857.6(RP1L1):c.1599G>A (p.Ser533=)	Occult macular dystrophy [RCV000347319]\|RP1L1-related disorder [RCV003932492]\|not provided [RCV003430942]	benign\|likely benign	8	10612499	10612499	Human	2	name , alternate_id
11605850	CV307429	single nucleotide variant	NM_178857.6(RP1L1):c.1273A>C (p.Arg425=)	Occult macular dystrophy [RCV000324707]	benign\|uncertain significance	8	10612825	10612825	Human	2	name
11602168	CV307482	single nucleotide variant	NM_178857.6(RP1L1):c.122G>A (p.Arg41Gln)	Occult macular dystrophy [RCV000288411]\|not provided [RCV002523622]	likely benign\|uncertain significance	8	10623080	10623080	Human	2	name
11610611	CV312385	single nucleotide variant	NM_178857.6(RP1L1):c.2643C>T (p.Ala881=)	Occult macular dystrophy [RCV000383555]	benign\|likely benign	8	10611455	10611455	Human	2	name
11602942	CV312393	single nucleotide variant	NM_178857.6(RP1L1):c.2499G>A (p.Pro833=)	Occult macular dystrophy [RCV000295477]\|Occult macular dystrophy [RCV002481240]\|Retinal dystrophy [RCV003888872]\|not provided [RCV005243215]	benign\|likely benign	8	10611599	10611599	Human	4	name
11611946	CV312410	single nucleotide variant	NM_178857.6(RP1L1):c.2928G>A (p.Ala976=)	Occult macular dystrophy [RCV000401638]	benign\|uncertain significance	8	10611170	10611170	Human	2	name
11601964	CV312418	single nucleotide variant	NM_178857.6(RP1L1):c.1821A>C (p.Thr607=)	Occult macular dystrophy [RCV000286687]	uncertain significance	8	10612277	10612277	Human	2	name
11611147	CV312442	single nucleotide variant	NM_178857.6(RP1L1):c.2268C>T (p.Asn756=)	Occult macular dystrophy [RCV000391131]\|Retinal dystrophy [RCV003888876]\|not provided [RCV004712469]	benign	8	10611830	10611830	Human	5	name
11611147	CV312442	single nucleotide variant	NM_178857.6(RP1L1):c.2268C>T (p.Asn756=)	Occult macular dystrophy [RCV000391131]\|Retinal dystrophy [RCV003888876]\|not provided [RCV004712469]	benign	8	10611830	10611831	Human	5	name
11608794	CV312444	single nucleotide variant	NM_178857.6(RP1L1):c.1320C>T (p.His440=)	Occult macular dystrophy [RCV000359584]\|not provided [RCV001729564]\|not specified [RCV001729565]	benign\|likely benign	8	10612778	10612778	Human	2	name
11600817	CV312456	single nucleotide variant	NM_178857.6(RP1L1):c.2172G>A (p.Ser724=)	Occult macular dystrophy [RCV000277202]\|not provided [RCV004712470]	benign	8	10611926	10611926	Human	2	name
11604719	CV312474	single nucleotide variant	NM_178857.6(RP1L1):c.1551A>G (p.Gln517=)	Occult macular dystrophy [RCV000312339]\|Retinal dystrophy [RCV003888879]	benign\|likely benign\|uncertain significance	8	10612547	10612547	Human	4	name
11598953	CV312482	single nucleotide variant	NM_178857.6(RP1L1):c.1434C>T (p.Asp478=)	Occult macular dystrophy [RCV000261708]\|not provided [RCV000415757]	benign\|likely benign\|uncertain significance	8	10612664	10612664	Human	2	name
11611666	CV312492	single nucleotide variant	NM_178857.6(RP1L1):c.109A>G (p.Thr37Ala)	Occult macular dystrophy [RCV000397818]\|not provided [RCV001861313]	likely benign\|uncertain significance	8	10623093	10623093	Human	2	name
11605109	CV312504	single nucleotide variant	NM_178857.6(RP1L1):c.289G>C (p.Glu97Gln)	Occult macular dystrophy [RCV000315870]\|RP1L1-related disorder [RCV004751504]\|Retinal dystrophy [RCV003888889]\|not provided [RCV000926428]	benign\|likely benign	8	10622913	10622913	Human	4	name , alternate_id
11659016	CV312513	single nucleotide variant	NM_178857.6(RP1L1):c.275C>T (p.Ala92Val)	Occult macular dystrophy [RCV000354066]\|not provided [RCV002523621]	uncertain significance	8	10622927	10622927	Human	2	name
11610033	CV312518	single nucleotide variant	NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser)	Occult macular dystrophy [RCV000376225]\|RP1L1-related disorder [RCV003902411]\|not provided [RCV000659100]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	10622985	10622985	Human	2	name , alternate_id
11610325	CV312520	single nucleotide variant	NM_178857.6(RP1L1):c.130C>G (p.Pro44Ala)	Occult macular dystrophy [RCV000380382]\|not provided [RCV001517261]	benign\|likely benign	8	10623072	10623072	Human	2	name
405089369	CV3138120	single nucleotide variant	NM_178857.6(RP1L1):c.254G>A (p.Arg85Gln)	Inborn genetic diseases [RCV005273955]\|not provided [RCV003834638]	uncertain significance	8	10622948	10622948	Human	1	name
405262780	CV3188324	single nucleotide variant	NM_178857.6(RP1L1):c.2886C>T (p.Asp962=)	Retinal dystrophy [RCV003889388]	uncertain significance	8	10611212	10611212	Human	2	name
405262914	CV3188326	single nucleotide variant	NM_178857.6(RP1L1):c.2763G>A (p.Gly921=)	Retinal dystrophy [RCV003889390]	uncertain significance	8	10611335	10611335	Human	2	name
405262797	CV3188332	single nucleotide variant	NM_178857.6(RP1L1):c.2481A>G (p.Ser827=)	Retinal dystrophy [RCV003889396]	uncertain significance	8	10611617	10611617	Human	2	name
405262803	CV3188335	single nucleotide variant	NM_178857.6(RP1L1):c.2256C>T (p.Val752=)	Retinal dystrophy [RCV003889399]	uncertain significance	8	10611842	10611842	Human	2	name
405262811	CV3188340	single nucleotide variant	NM_178857.6(RP1L1):c.1863G>A (p.Ser621=)	Retinal dystrophy [RCV003889404]	uncertain significance	8	10612235	10612235	Human	2	name
405262814	CV3188342	single nucleotide variant	NM_178857.6(RP1L1):c.1845T>C (p.Leu615=)	Retinal dystrophy [RCV003889406]	uncertain significance	8	10612253	10612253	Human	2	name
405262815	CV3188343	single nucleotide variant	NM_178857.6(RP1L1):c.1779G>T (p.Thr593=)	Retinal dystrophy [RCV003889407]	likely pathogenic	8	10612319	10612319	Human	2	name
405262825	CV3188346	single nucleotide variant	NM_178857.6(RP1L1):c.1716C>T (p.Gly572=)	Retinal dystrophy [RCV003889410]	uncertain significance	8	10612382	10612382	Human	2	name
405257103	CV3188349	single nucleotide variant	NM_178857.6(RP1L1):c.1491G>C (p.Gly497=)	RP1L1-related disorder [RCV003921410]\|Retinal dystrophy [RCV003889413]	benign\|likely benign	8	10612607	10612607	Human	3	name , alternate_id
405262870	CV3188352	single nucleotide variant	NM_178857.6(RP1L1):c.1341A>G (p.Arg447=)	Retinal dystrophy [RCV003889416]	uncertain significance	8	10612757	10612757	Human	2	name
405262930	CV3188359	single nucleotide variant	NM_178857.6(RP1L1):c.1074T>A (p.Val358=)	Retinal dystrophy [RCV003889423]	uncertain significance	8	10613024	10613024	Human	2	name
405262951	CV3188373	single nucleotide variant	NM_178857.6(RP1L1):c.260T>C (p.Leu87Pro)	Occult macular dystrophy [RCV005392726]\|Retinal dystrophy [RCV003889437]\|not provided [RCV005101481]	uncertain significance	8	10622942	10622942	Human	4	name
405262953	CV3188374	single nucleotide variant	NM_178857.6(RP1L1):c.166C>G (p.Arg56Gly)	Retinal dystrophy [RCV003889438]	uncertain significance	8	10623036	10623036	Human	2	name
405276909	CV3198664	single nucleotide variant	NM_178857.6(RP1L1):c.1683C>T (p.Ala561=)	RP1L1-related disorder [RCV003903990]	likely benign	8	10612415	10612415	Human		name , trait , alternate_id
405285203	CV3202519	single nucleotide variant	NM_178857.6(RP1L1):c.1707C>T (p.Ser569=)	RP1L1-related disorder [RCV003909780]	likely benign	8	10612391	10612391	Human		name , trait , alternate_id
405279442	CV3217452	single nucleotide variant	NM_178857.6(RP1L1):c.1872C>G (p.Ala624=)	RP1L1-related disorder [RCV003976863]	likely benign	8	10612226	10612226	Human		name , trait , alternate_id
405719373	CV3309858	single nucleotide variant	NM_178857.6(RP1L1):c.105G>T (p.Lys35Asn)	Inborn genetic diseases [RCV004449606]	uncertain significance	8	10623097	10623097	Human	1	name
405719490	CV3309873	single nucleotide variant	NM_178857.6(RP1L1):c.221T>G (p.Leu74Arg)	Inborn genetic diseases [RCV004449621]	uncertain significance	8	10622981	10622981	Human	1	name
405719503	CV3309875	single nucleotide variant	NM_178857.6(RP1L1):c.238T>A (p.Ser80Thr)	Inborn genetic diseases [RCV004449623]	uncertain significance	8	10622964	10622964	Human	1	name
408378198	CV3511330	single nucleotide variant	NM_178857.6(RP1L1):c.2664G>A (p.Pro888=)	RP1L1-related disorder [RCV004752166]	likely benign	8	10611434	10611434	Human		name , trait , alternate_id
408378256	CV3511686	single nucleotide variant	NM_178857.6(RP1L1):c.1194C>T (p.Gly398=)	RP1L1-related disorder [RCV004752194]	likely benign	8	10612904	10612904	Human		name , trait , alternate_id
408378481	CV3513668	single nucleotide variant	NM_178857.6(RP1L1):c.2959C>T (p.Leu987=)	RP1L1-related disorder [RCV004752296]	likely benign	8	10611139	10611139	Human		name , trait , alternate_id
596947747	CV3547330	single nucleotide variant	NM_178857.6(RP1L1):c.1041C>T (p.Ser347=)	not provided [RCV004811634]	likely benign	8	10613057	10613057	Human		name
597719738	CV3587064	single nucleotide variant	NM_178857.6(RP1L1):c.130C>T (p.Pro44Ser)	Inborn genetic diseases [RCV004960348]	uncertain significance	8	10623072	10623072	Human	1	name
597726579	CV3587086	single nucleotide variant	NM_178857.6(RP1L1):c.193A>G (p.Met65Val)	Inborn genetic diseases [RCV004962323]\|not provided [RCV005061550]	uncertain significance	8	10623009	10623009	Human	1	name
617153504	CV3703453	deletion	NM_178857.6(RP1L1):c.516del (p.His172fs)	Retinitis pigmentosa [RCV005419852]	pathogenic	8	10622686	10622686	Human	2	name
597900409	CV3741045	single nucleotide variant	NM_178857.6(RP1L1):c.208C>T (p.Gln70Ter)	not provided [RCV005072208]	uncertain significance	8	10622994	10622994	Human		name
597933389	CV3742785	single nucleotide variant	NM_178857.6(RP1L1):c.110C>A (p.Thr37Asn)	not provided [RCV005076224]	uncertain significance	8	10623092	10623092	Human		name
597973835	CV3820708	single nucleotide variant	NM_178857.6(RP1L1):c.250C>A (p.Pro84Thr)	not provided [RCV005168225]	uncertain significance	8	10622952	10622952	Human		name
597879582	CV3826270	single nucleotide variant	NM_178857.6(RP1L1):c.272G>A (p.Ser91Asn)	not provided [RCV005177966]	uncertain significance	8	10622930	10622930	Human		name
598122359	CV3889822	single nucleotide variant	NM_178857.6(RP1L1):c.250C>T (p.Pro84Ser)	Occult macular dystrophy [RCV005247926]	uncertain significance	8	10622952	10622952	Human	2	name
12905576	CV413770	single nucleotide variant	NM_178857.6(RP1L1):c.212G>A (p.Arg71His)	not provided [RCV000487692]	conflicting interpretations of pathogenicity\|uncertain significance	8	10622990	10622990	Human		name
13474924	CV444198	single nucleotide variant	NM_178857.6(RP1L1):c.148C>T (p.Arg50Cys)	not provided [RCV000519763]	uncertain significance	8	10623054	10623054	Human		name
8572429	CV59496	deletion	NM_178857.6(RP1L1):c.603del (p.Lys203fs)	Retinitis pigmentosa 88 [RCV000043522]	pathogenic\|uncertain significance	8	10622599	10622599	Human	1	name
14397283	CV612799	single nucleotide variant	NM_178857.6(RP1L1):c.2325C>A (p.Pro775=)	not provided [RCV000762492]	uncertain significance	8	10611773	10611773	Human		name
14397290	CV612805	single nucleotide variant	NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter)	Retinal dystrophy [RCV004817983]\|not provided [RCV000762498]	likely pathogenic\|uncertain significance	8	10622919	10622919	Human	2	name
21069706	CV796112	single nucleotide variant	NM_178857.6(RP1L1):c.2295C>T (p.Asp765=)	not provided [RCV000998993]	uncertain significance	8	10611803	10611803	Human		name
21069708	CV796114	single nucleotide variant	NM_178857.6(RP1L1):c.274G>A (p.Ala92Thr)	Inborn genetic diseases [RCV003160153]\|not provided [RCV000998996]	uncertain significance	8	10622928	10622928	Human	1	name
26910405	CV856581	deletion	NM_178857.6(RP1L1):c.831del (p.Arg277fs)	Retinal dystrophy [RCV001074910]	likely pathogenic	8	10613267	10613267	Human	2	name
26910115	CV856584	deletion	NM_178857.6(RP1L1):c.332del (p.Lys111fs)	Retinal dystrophy [RCV001074459]\|not provided [RCV002554719]	uncertain significance	8	10622870	10622870	Human	2	name
26910033	CV856585	single nucleotide variant	NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys)	Inborn genetic diseases [RCV003283966]\|Retinal dystrophy [RCV001074310]\|not provided [RCV001862824]	uncertain significance	8	10622991	10622991	Human	3	name
28906694	CV898692	single nucleotide variant	NM_178857.6(RP1L1):c.2586C>T (p.Cys862=)	Occult macular dystrophy [RCV001159097]	uncertain significance	8	10611512	10611512	Human	2	name
28906697	CV898693	single nucleotide variant	NM_178857.6(RP1L1):c.2583C>T (p.Pro861=)	Occult macular dystrophy [RCV001159098]\|not provided [RCV001727841]\|not specified [RCV001700705]	benign\|likely benign	8	10611515	10611515	Human	2	name
28871786	CV898702	single nucleotide variant	NM_178857.6(RP1L1):c.2238G>A (p.Ser746=)	Occult macular dystrophy [RCV001164112]	benign	8	10611860	10611860	Human	2	name
28871790	CV898703	single nucleotide variant	NM_178857.6(RP1L1):c.2235C>T (p.His745=)	Occult macular dystrophy [RCV001164113]	uncertain significance	8	10611863	10611863	Human	2	name
28871792	CV898704	single nucleotide variant	NM_178857.6(RP1L1):c.2205C>T (p.Thr735=)	Occult macular dystrophy [RCV001164114]	uncertain significance	8	10611893	10611893	Human	2	name
28906884	CV898705	single nucleotide variant	NM_178857.6(RP1L1):c.2127G>A (p.Ser709=)	Occult macular dystrophy [RCV001159203]	benign	8	10611971	10611971	Human	2	name
28909359	CV898707	single nucleotide variant	NM_178857.6(RP1L1):c.1980C>T (p.Ala660=)	Occult macular dystrophy [RCV001160564]	likely benign	8	10612118	10612118	Human	2	name
28872017	CV898713	single nucleotide variant	NM_178857.6(RP1L1):c.1734C>T (p.Ala578=)	Occult macular dystrophy [RCV001164206]	uncertain significance	8	10612364	10612364	Human	2	name
28872025	CV898715	single nucleotide variant	NM_178857.6(RP1L1):c.1617C>T (p.Thr539=)	Occult macular dystrophy [RCV001164208]	likely benign	8	10612481	10612481	Human	2	name
28872029	CV898716	single nucleotide variant	NM_178857.6(RP1L1):c.1605G>A (p.Ser535=)	Inborn genetic diseases [RCV005268919]\|Occult macular dystrophy [RCV001164209]\|not provided [RCV003433067]	benign\|likely benign	8	10612493	10612493	Human	3	name
28907071	CV898719	single nucleotide variant	NM_178857.6(RP1L1):c.1386C>T (p.Pro462=)	Occult macular dystrophy [RCV001159302]\|not provided [RCV004712963]\|not specified [RCV001700706]	benign	8	10612712	10612712	Human	2	name
28909493	CV898721	single nucleotide variant	NM_178857.6(RP1L1):c.1203A>C (p.Pro401=)	Occult macular dystrophy [RCV001160666]	uncertain significance	8	10612895	10612895	Human	2	name
28868086	CV898722	single nucleotide variant	NM_178857.6(RP1L1):c.1179A>G (p.Glu393=)	Occult macular dystrophy [RCV001162277]	uncertain significance	8	10612919	10612919	Human	2	name
28868089	CV898723	single nucleotide variant	NM_178857.6(RP1L1):c.1035G>A (p.Arg345=)	Occult macular dystrophy [RCV001162278]\|not provided [RCV004712972]	benign	8	10613063	10613063	Human	2	name
28872513	CV898733	single nucleotide variant	NM_178857.6(RP1L1):c.292G>A (p.Asp98Asn)	Inborn genetic diseases [RCV002558591]\|Occult macular dystrophy [RCV001164432]\|RP1L1-related disorder [RCV003396779]\|not provided [RCV001365866]	likely benign\|uncertain significance	8	10622910	10622910	Human	3	name , alternate_id
28907391	CV898734	single nucleotide variant	NM_178857.6(RP1L1):c.253C>T (p.Arg85Trp)	Occult macular dystrophy [RCV001159501]\|not provided [RCV002070967]	benign\|likely benign	8	10622949	10622949	Human	2	name
28909779	CV898737	single nucleotide variant	NM_178857.6(RP1L1):c.190C>T (p.Leu64Phe)	Occult macular dystrophy [RCV001160869]\|not provided [RCV001364294]	benign\|uncertain significance	8	10623012	10623012	Human	2	name
28909781	CV898738	single nucleotide variant	NM_178857.6(RP1L1):c.166C>A (p.Arg56Ser)	Occult macular dystrophy [RCV001160870]\|not provided [RCV001859040]	likely benign\|uncertain significance	8	10623036	10623036	Human	2	name
28909785	CV898740	single nucleotide variant	NM_178857.6(RP1L1):c.134G>A (p.Arg45Gln)	Occult macular dystrophy [RCV001160872]\|not provided [RCV001859041]	benign\|uncertain significance	8	10623068	10623068	Human	2	name
126736205	CV992541	single nucleotide variant	NM_178857.6(RP1L1):c.133C>G (p.Arg45Gly)	not provided [RCV001295189]	uncertain significance	8	10623069	10623069	Human		name
126729281	CV1016986	single nucleotide variant	NM_178857.6(RP1L1):c.591C>G (p.Tyr197Ter)	Occult macular dystrophy [RCV001333104]	pathogenic	8	10622611	10622611	Human	1	name
126734781	CV1020428	single nucleotide variant	NM_178857.6(RP1L1):c.379C>T (p.Gln127Ter)	not provided [RCV001923590]	pathogenic\|uncertain significance	8	10622823	10622823	Human		name
8643464	CV102447	single nucleotide variant	NM_178857.6(RP1L1):c.652G>T (p.Val218Leu)	Occult macular dystrophy [RCV000385669]\|RP1L1-related disorder [RCV003905072]\|not provided [RCV000591460]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	10616545	10616545	Human	2	name , alternate_id
8643465	CV102448	single nucleotide variant	NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu)	Occult macular dystrophy [RCV000300062]\|RP1L1-related disorder [RCV003905073]\|not provided [RCV000594063]	benign\|likely benign\|uncertain significance	8	10613199	10613199	Human	2	name , alternate_id
126767440	CV1028271	single nucleotide variant	NM_178857.6(RP1L1):c.397G>A (p.Glu133Lys)	not provided [RCV001342823]	uncertain significance	8	10622805	10622805	Human		name
126910919	CV1037840	single nucleotide variant	NM_178857.6(RP1L1):c.434G>A (p.Arg145Gln)	not provided [RCV001354791]	benign\|uncertain significance	8	10622768	10622768	Human		name
150447550	CV1201905	single nucleotide variant	NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln)	Occult macular dystrophy [RCV002476889]\|Retinal dystrophy [RCV004815574]\|not provided [RCV001584774]	uncertain significance	8	10622747	10622747	Human	4	name
150490515	CV1274158	single nucleotide variant	NM_178857.6(RP1L1):c.3591C>T (p.Ser1197=)	not provided [RCV001727924]\|not specified [RCV001700817]	benign\|likely benign	8	10610507	10610507	Human		name
150487929	CV1274476	single nucleotide variant	NM_178857.6(RP1L1):c.4002G>A (p.Glu1334=)	not provided [RCV001726648]\|not specified [RCV001699683]	benign\|likely benign	8	10610096	10610096	Human		name
150489944	CV1274730	single nucleotide variant	NM_178857.6(RP1L1):c.4851G>C (p.Ser1617=)	not provided [RCV001727967]\|not specified [RCV001700598]	benign\|likely benign	8	10609247	10609247	Human		name
150516702	CV1287491	single nucleotide variant	NM_178857.6(RP1L1):c.592A>G (p.Thr198Ala)	not provided [RCV001723469]	uncertain significance	8	10622610	10622610	Human		name
150550361	CV1300206	single nucleotide variant	NM_178857.6(RP1L1):c.989A>T (p.His330Leu)	Inborn genetic diseases [RCV003264081]\|not provided [RCV001765676]	uncertain significance	8	10613109	10613109	Human	1	name
151792776	CV1341522	single nucleotide variant	NM_178857.6(RP1L1):c.406C>T (p.Arg136Cys)	Occult macular dystrophy [RCV005397051]\|not provided [RCV001866399]	uncertain significance	8	10622796	10622796	Human	2	name
151779979	CV1341701	single nucleotide variant	NM_178857.6(RP1L1):c.659C>T (p.Ala220Val)	not provided [RCV001897145]	uncertain significance	8	10616538	10616538	Human		name
151781243	CV1341859	single nucleotide variant	NM_178857.6(RP1L1):c.384G>T (p.Gln128His)	not provided [RCV001897259]	uncertain significance	8	10622818	10622818	Human		name
151841117	CV1342313	single nucleotide variant	NM_178857.6(RP1L1):c.376G>A (p.Ala126Thr)	not provided [RCV001956760]	uncertain significance	8	10622826	10622826	Human		name
151785319	CV1344799	single nucleotide variant	NM_178857.6(RP1L1):c.602G>A (p.Gly201Glu)	not provided [RCV001989510]	uncertain significance	8	10622600	10622600	Human		name
151861861	CV1353906	single nucleotide variant	NM_178857.6(RP1L1):c.565C>G (p.Leu189Val)	Inborn genetic diseases [RCV004044565]\|not provided [RCV001959319]	uncertain significance	8	10622637	10622637	Human	1	name
151796816	CV1356172	single nucleotide variant	NM_178857.6(RP1L1):c.398A>G (p.Glu133Gly)	not provided [RCV002027723]	uncertain significance	8	10622804	10622804	Human		name
151803489	CV1364721	single nucleotide variant	NM_178857.6(RP1L1):c.617C>A (p.Ser206Ter)	not provided [RCV001991164]	uncertain significance	8	10616580	10616580	Human		name
151836554	CV1367237	single nucleotide variant	NM_178857.6(RP1L1):c.725C>G (p.Ser242Cys)	not provided [RCV001994252]	uncertain significance	8	10616472	10616472	Human		name
151825146	CV1373399	single nucleotide variant	NM_178857.6(RP1L1):c.749A>G (p.Asn250Ser)	Inborn genetic diseases [RCV004039812]\|not provided [RCV001934521]	uncertain significance	8	10616448	10616448	Human	1	name
151758969	CV1375601	single nucleotide variant	NM_178857.6(RP1L1):c.448A>G (p.Thr150Ala)	Inborn genetic diseases [RCV003348664]\|not provided [RCV001969954]	likely benign\|uncertain significance	8	10622754	10622754	Human	1	name
151866344	CV1381395	single nucleotide variant	NM_178857.6(RP1L1):c.454C>G (p.Arg152Gly)	Inborn genetic diseases [RCV003264184]\|not provided [RCV001905928]	uncertain significance	8	10622748	10622748	Human	1	name
151726399	CV1387168	single nucleotide variant	NM_178857.6(RP1L1):c.506T>C (p.Val169Ala)	not provided [RCV001910391]	uncertain significance	8	10622696	10622696	Human		name
151743535	CV1387237	single nucleotide variant	NM_178857.6(RP1L1):c.671C>A (p.Ala224Asp)	not provided [RCV001985479]	uncertain significance	8	10616526	10616526	Human		name
151714720	CV1388696	single nucleotide variant	NM_178857.6(RP1L1):c.380A>T (p.Gln127Leu)	not provided [RCV002002705]	uncertain significance	8	10622822	10622822	Human		name
151711375	CV1395043	single nucleotide variant	NM_178857.6(RP1L1):c.473A>G (p.Lys158Arg)	not provided [RCV001964368]	uncertain significance	8	10622729	10622729	Human		name
151752202	CV1397912	single nucleotide variant	NM_178857.6(RP1L1):c.622C>T (p.Gln208Ter)	not provided [RCV001969301]	uncertain significance	8	10616575	10616575	Human		name
151744939	CV1401665	single nucleotide variant	NM_178857.6(RP1L1):c.433C>T (p.Arg145Trp)	not provided [RCV001947489]	uncertain significance	8	10622769	10622769	Human		name
151772223	CV1402628	single nucleotide variant	NM_178857.6(RP1L1):c.386T>C (p.Leu129Ser)	not provided [RCV001896451]	uncertain significance	8	10622816	10622816	Human		name
151780361	CV1408451	single nucleotide variant	NM_178857.6(RP1L1):c.335C>T (p.Thr112Ile)	not provided [RCV001915818]	uncertain significance	8	10622867	10622867	Human		name
151870346	CV1416998	single nucleotide variant	NM_178857.6(RP1L1):c.477C>G (p.Asn159Lys)	not provided [RCV001998250]	uncertain significance	8	10622725	10622725	Human		name
151726604	CV1433535	single nucleotide variant	NM_178857.6(RP1L1):c.484C>G (p.Pro162Ala)	not provided [RCV001983755]	uncertain significance	8	10622718	10622718	Human		name
151827716	CV1435473	single nucleotide variant	NM_178857.6(RP1L1):c.593C>T (p.Thr198Met)	Retinal dystrophy [RCV004816794]\|not provided [RCV001955369]	uncertain significance	8	10622609	10622609	Human	2	name
151711437	CV1440103	single nucleotide variant	NM_178857.6(RP1L1):c.626C>T (p.Ala209Val)	not provided [RCV001908090]	uncertain significance	8	10616571	10616571	Human		name
151776093	CV1440279	single nucleotide variant	NM_178857.6(RP1L1):c.499A>T (p.Thr167Ser)	Inborn genetic diseases [RCV003355594]\|not provided [RCV001874917]	uncertain significance	8	10622703	10622703	Human	1	name
151728237	CV1444324	single nucleotide variant	NM_178857.6(RP1L1):c.308T>C (p.Leu103Pro)	not provided [RCV001945776]	uncertain significance	8	10622894	10622894	Human		name
151884034	CV1452545	single nucleotide variant	NM_178857.6(RP1L1):c.712G>A (p.Ala238Thr)	not provided [RCV002037470]	uncertain significance	8	10616485	10616485	Human		name
151852659	CV1455886	single nucleotide variant	NM_178857.6(RP1L1):c.377C>A (p.Ala126Asp)	Inborn genetic diseases [RCV003365464]\|not provided [RCV002033382]	uncertain significance	8	10622825	10622825	Human	1	name
151852573	CV1459017	single nucleotide variant	NM_178857.6(RP1L1):c.541T>A (p.Phe181Ile)	Inborn genetic diseases [RCV003365655]\|not provided [RCV002016786]	uncertain significance	8	10622661	10622661	Human	1	name
151831906	CV1459559	single nucleotide variant	NM_178857.6(RP1L1):c.617C>T (p.Ser206Leu)	not provided [RCV002050804]	uncertain significance	8	10616580	10616580	Human		name
151770943	CV1460681	single nucleotide variant	NM_178857.6(RP1L1):c.387G>C (p.Leu129Phe)	not provided [RCV001864066]	uncertain significance	8	10622815	10622815	Human		name
151829544	CV1465815	single nucleotide variant	NM_178857.6(RP1L1):c.325C>T (p.Pro109Ser)	Retinal dystrophy [RCV003888337]\|not provided [RCV002050587]	uncertain significance	8	10622877	10622877	Human	2	name
151818955	CV1466076	single nucleotide variant	NM_178857.6(RP1L1):c.526A>G (p.Arg176Gly)	not provided [RCV001900691]	uncertain significance	8	10622676	10622676	Human		name
151754173	CV1467526	single nucleotide variant	NM_178857.6(RP1L1):c.569G>A (p.Arg190His)	Retinal dystrophy [RCV003888925]\|not provided [RCV001948451]	uncertain significance	8	10622633	10622633	Human	2	name
151718356	CV1469313	single nucleotide variant	NM_178857.6(RP1L1):c.329C>G (p.Pro110Arg)	not provided [RCV002039683]	uncertain significance	8	10622873	10622873	Human		name
151716116	CV1470540	single nucleotide variant	NM_178857.6(RP1L1):c.326C>A (p.Pro109His)	not provided [RCV001908990]	uncertain significance	8	10622876	10622876	Human		name
151817897	CV1482036	single nucleotide variant	NM_178857.6(RP1L1):c.484C>A (p.Pro162Thr)	not provided [RCV002029600]	uncertain significance	8	10622718	10622718	Human		name
151868105	CV1492049	single nucleotide variant	NM_178857.6(RP1L1):c.538G>A (p.Ala180Thr)	not provided [RCV002018596]	uncertain significance	8	10622664	10622664	Human		name
151720202	CV1498287	single nucleotide variant	NM_178857.6(RP1L1):c.500C>A (p.Thr167Lys)	not provided [RCV001965857]	uncertain significance	8	10622702	10622702	Human		name
151763530	CV1499338	single nucleotide variant	NM_178857.6(RP1L1):c.605A>G (p.Lys202Arg)	not provided [RCV001863370]	uncertain significance	8	10622597	10622597	Human		name
151853905	CV1501024	single nucleotide variant	NM_178857.6(RP1L1):c.428C>A (p.Ser143Tyr)	not provided [RCV001958355]	uncertain significance	8	10622774	10622774	Human		name
151745859	CV1502731	single nucleotide variant	NM_178857.6(RP1L1):c.556T>C (p.Ser186Pro)	not provided [RCV001912411]	uncertain significance	8	10622646	10622646	Human		name
151763478	CV1503191	single nucleotide variant	NM_178857.6(RP1L1):c.361G>A (p.Glu121Lys)	not provided [RCV001914258]	uncertain significance	8	10622841	10622841	Human		name
151796504	CV1503719	single nucleotide variant	NM_178857.6(RP1L1):c.480G>T (p.Met160Ile)	not provided [RCV001973524]	uncertain significance	8	10622722	10622722	Human		name
151797580	CV1503835	single nucleotide variant	NM_178857.6(RP1L1):c.404A>G (p.Gln135Arg)	not provided [RCV001973611]	uncertain significance	8	10622798	10622798	Human		name
151818348	CV1505975	single nucleotide variant	NM_178857.6(RP1L1):c.478A>C (p.Met160Leu)	not provided [RCV002049541]	uncertain significance	8	10622724	10622724	Human		name
151742636	CV1507436	single nucleotide variant	NM_178857.6(RP1L1):c.325C>A (p.Pro109Thr)	Inborn genetic diseases [RCV002564429]\|not provided [RCV001968294]	uncertain significance	8	10622877	10622877	Human	1	name
151839882	CV1507902	single nucleotide variant	NM_178857.6(RP1L1):c.353G>A (p.Arg118Gln)	Inborn genetic diseases [RCV004044490]\|Retinal dystrophy [RCV004816840]\|not provided [RCV001956615]	uncertain significance	8	10622849	10622849	Human	3	name
151865738	CV1509954	single nucleotide variant	NM_178857.6(RP1L1):c.751G>A (p.Gly251Arg)	not provided [RCV001924580]	uncertain significance	8	10616446	10616446	Human		name
151723142	CV1511824	single nucleotide variant	NM_178857.6(RP1L1):c.502G>A (p.Val168Met)	not provided [RCV002003943]	uncertain significance	8	10622700	10622700	Human		name
152116352	CV1643117	single nucleotide variant	NM_178857.6(RP1L1):c.556T>G (p.Ser186Ala)	not provided [RCV002216186]	likely benign	8	10622646	10622646	Human		name
152978004	CV1671131	single nucleotide variant	NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter)	Retinal dystrophy [RCV003889103]\|Retinitis pigmentosa 88 [RCV002226808]\|not provided [RCV003093893]	pathogenic\|likely pathogenic\|uncertain significance	8	10622799	10622799	Human	3	name
153347559	CV1692095	single nucleotide variant	NM_178857.6(RP1L1):c.976A>G (p.Lys326Glu)	Inborn genetic diseases [RCV004047491]\|not provided [RCV002273580]	uncertain significance	8	10613122	10613122	Human	1	name
155749502	CV1778484	single nucleotide variant	NM_178857.6(RP1L1):c.496C>G (p.Gln166Glu)	not provided [RCV002304718]	uncertain significance	8	10622706	10622706	Human		name
156061475	CV1868105	single nucleotide variant	NM_178857.6(RP1L1):c.661G>A (p.Gly221Arg)	Retinal dystrophy [RCV003889213]\|not provided [RCV003037277]	uncertain significance	8	10616536	10616536	Human	2	name
156262743	CV1869192	single nucleotide variant	NM_178857.6(RP1L1):c.599G>C (p.Ser200Thr)	not provided [RCV003060420]	uncertain significance	8	10622603	10622603	Human		name
156178977	CV1888187	single nucleotide variant	NM_178857.6(RP1L1):c.487C>T (p.Arg163Cys)	not provided [RCV003083492]	likely benign	8	10622715	10622715	Human		name
156442724	CV1948833	single nucleotide variant	NM_178857.6(RP1L1):c.459G>T (p.Arg153Ser)	not provided [RCV003113076]	uncertain significance	8	10622743	10622743	Human		name
156407326	CV1960545	single nucleotide variant	NM_178857.6(RP1L1):c.452C>G (p.Pro151Arg)	not provided [RCV002586193]	uncertain significance	8	10622750	10622750	Human		name
156419508	CV1967325	single nucleotide variant	NM_178857.6(RP1L1):c.415C>T (p.Pro139Ser)	not provided [RCV002612745]	uncertain significance	8	10622787	10622787	Human		name
156313241	CV1969947	single nucleotide variant	NM_178857.6(RP1L1):c.424T>G (p.Ser142Ala)	not provided [RCV002578810]	uncertain significance	8	10622778	10622778	Human		name
155916891	CV1980950	single nucleotide variant	NM_178857.6(RP1L1):c.422C>A (p.Thr141Asn)	not provided [RCV002614359]	uncertain significance	8	10622780	10622780	Human		name
156398783	CV1984673	single nucleotide variant	NM_178857.6(RP1L1):c.321G>C (p.Lys107Asn)	not provided [RCV002605401]	uncertain significance	8	10622881	10622881	Human		name
156114934	CV1993846	single nucleotide variant	NM_178857.6(RP1L1):c.311G>A (p.Cys104Tyr)	not provided [RCV002662630]	uncertain significance	8	10622891	10622891	Human		name
156394973	CV2015945	single nucleotide variant	NM_178857.6(RP1L1):c.637A>G (p.Ser213Gly)	not provided [RCV002725459]	uncertain significance	8	10616560	10616560	Human		name
156021857	CV2019405	single nucleotide variant	NM_178857.6(RP1L1):c.347C>G (p.Pro116Arg)	not provided [RCV002691040]	uncertain significance	8	10622855	10622855	Human		name
156373592	CV2028311	single nucleotide variant	NM_178857.6(RP1L1):c.689T>C (p.Met230Thr)	not provided [RCV002721726]	uncertain significance	8	10616508	10616508	Human		name
155918302	CV2031960	single nucleotide variant	NM_178857.6(RP1L1):c.363G>T (p.Glu121Asp)	not provided [RCV002727250]	uncertain significance	8	10622839	10622839	Human		name
156071286	CV2032708	single nucleotide variant	NM_178857.6(RP1L1):c.416C>T (p.Pro139Leu)	not provided [RCV002760327]	uncertain significance	8	10622786	10622786	Human		name
156196418	CV2038278	single nucleotide variant	NM_178857.6(RP1L1):c.529A>T (p.Asn177Tyr)	not provided [RCV002766081]	uncertain significance	8	10622673	10622673	Human		name
155956715	CV2040180	single nucleotide variant	NM_178857.6(RP1L1):c.512G>A (p.Ser171Asn)	Inborn genetic diseases [RCV002790074]\|not provided [RCV002776055]	uncertain significance	8	10622690	10622690	Human	1	name
155949603	CV2046596	single nucleotide variant	NM_178857.6(RP1L1):c.313T>C (p.Ser105Pro)	Inborn genetic diseases [RCV004958761]\|not provided [RCV002775699]	uncertain significance	8	10622889	10622889	Human	1	name
156168402	CV2056709	single nucleotide variant	NM_178857.6(RP1L1):c.575C>G (p.Pro192Arg)	not provided [RCV002801878]	uncertain significance	8	10622627	10622627	Human		name
156203348	CV2063025	single nucleotide variant	NM_178857.6(RP1L1):c.640C>G (p.Pro214Ala)	not provided [RCV002829022]	uncertain significance	8	10616557	10616557	Human		name
156151544	CV2070333	single nucleotide variant	NM_178857.6(RP1L1):c.360G>T (p.Gln120His)	not provided [RCV002850886]	uncertain significance	8	10622842	10622842	Human		name
156281000	CV2074810	single nucleotide variant	NM_178857.6(RP1L1):c.370C>G (p.Pro124Ala)	not provided [RCV002856383]	uncertain significance	8	10622832	10622832	Human		name
156024980	CV2112373	single nucleotide variant	NM_178857.6(RP1L1):c.547G>T (p.Gly183Cys)	not provided [RCV002909794]	uncertain significance	8	10622655	10622655	Human		name
156158078	CV2118393	single nucleotide variant	NM_178857.6(RP1L1):c.377C>T (p.Ala126Val)	not provided [RCV002929140]	uncertain significance	8	10622825	10622825	Human		name
156365437	CV2130587	single nucleotide variant	NM_178857.6(RP1L1):c.713C>A (p.Ala238Asp)	not provided [RCV002967268]	uncertain significance	8	10616484	10616484	Human		name
156162885	CV2136924	single nucleotide variant	NM_178857.6(RP1L1):c.661G>C (p.Gly221Arg)	not provided [RCV003005132]	uncertain significance	8	10616536	10616536	Human		name
156209227	CV2160372	single nucleotide variant	NM_178857.6(RP1L1):c.442C>G (p.Leu148Val)	not provided [RCV003042267]	uncertain significance	8	10622760	10622760	Human		name
156372715	CV2185142	single nucleotide variant	NM_178857.6(RP1L1):c.424T>A (p.Ser142Thr)	not provided [RCV003049841]	uncertain significance	8	10622778	10622778	Human		name
156084581	CV2205599	single nucleotide variant	NM_178857.6(RP1L1):c.454C>T (p.Arg152Trp)	Inborn genetic diseases [RCV002660991]\|Retinal dystrophy [RCV004818255]\|not provided [RCV003777605]	uncertain significance	8	10622748	10622748	Human	3	name
155922672	CV2251745	single nucleotide variant	NM_178857.6(RP1L1):c.484C>T (p.Pro162Ser)	Inborn genetic diseases [RCV002773216]	uncertain significance	8	10622718	10622718	Human	1	name
156108830	CV2254471	single nucleotide variant	NM_178857.6(RP1L1):c.817C>T (p.Arg273Trp)	Inborn genetic diseases [RCV002799592]\|not provided [RCV005412491]	uncertain significance	8	10613281	10613281	Human	1	name
156277591	CV2284853	single nucleotide variant	NM_178857.6(RP1L1):c.331A>G (p.Lys111Glu)	Inborn genetic diseases [RCV002877989]\|Retinal dystrophy [RCV003889271]\|not provided [RCV003574994]	uncertain significance	8	10622871	10622871	Human	3	name
156245768	CV2310433	single nucleotide variant	NM_178857.6(RP1L1):c.604A>G (p.Lys202Glu)	Inborn genetic diseases [RCV002919607]\|not provided [RCV003660987]	uncertain significance	8	10622598	10622598	Human	1	name
156046346	CV2315598	single nucleotide variant	NM_178857.6(RP1L1):c.806G>A (p.Gly269Asp)	Inborn genetic diseases [RCV002924199]	uncertain significance	8	10613292	10613292	Human	1	name
156151327	CV2318770	single nucleotide variant	NM_178857.6(RP1L1):c.610G>A (p.Val204Met)	Inborn genetic diseases [RCV002954667]	uncertain significance	8	10616587	10616587	Human	1	name
155921019	CV2350599	single nucleotide variant	NM_178857.6(RP1L1):c.857G>T (p.Gly286Val)	Inborn genetic diseases [RCV002991963]\|RP1L1-related disorder [RCV003936675]	likely benign\|uncertain significance	8	10613241	10613241	Human	2	name , alternate_id
156339386	CV2351576	single nucleotide variant	NM_178857.6(RP1L1):c.880C>G (p.Gln294Glu)	Inborn genetic diseases [RCV002965114]	uncertain significance	8	10613218	10613218	Human	1	name
329376093	CV2437968	single nucleotide variant	NM_178857.6(RP1L1):c.873G>C (p.Arg291Ser)	Inborn genetic diseases [RCV003185951]	uncertain significance	8	10613225	10613225	Human	1	name
329356711	CV2460495	single nucleotide variant	NM_178857.6(RP1L1):c.460A>G (p.Ile154Val)	Inborn genetic diseases [RCV003203406]	uncertain significance	8	10622742	10622742	Human	1	name
329370671	CV2461800	single nucleotide variant	NM_178857.6(RP1L1):c.876C>A (p.His292Gln)	Inborn genetic diseases [RCV003209484]	uncertain significance	8	10613222	10613222	Human	1	name
329392781	CV2468925	single nucleotide variant	NM_178857.6(RP1L1):c.692A>T (p.Lys231Ile)	Inborn genetic diseases [RCV003217948]	uncertain significance	8	10616505	10616505	Human	1	name
329848670	CV2523418	single nucleotide variant	NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)	Optic atrophy [RCV004818305]\|RP1L1-related disorder [RCV003936732]\|not provided [RCV003225432]	benign\|uncertain significance	8	10613295	10613295	Human	3	name , alternate_id
11558266	CV260789	single nucleotide variant	NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser)	Occult macular dystrophy [RCV001164431]\|Ulnar/fibula ray defect-brachydactyly syndrome [RCV000256389]\|not provided [RCV001416005]	likely pathogenic\|benign\|likely benign	8	10622874	10622874	Human	3	name
329848074	CV2667693	single nucleotide variant	NM_178857.6(RP1L1):c.755G>C (p.Ser252Thr)	not provided [RCV003229260]	uncertain significance	8	10613343	10613343	Human		name
11636793	CV268498	single nucleotide variant	NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu)	Retinal dystrophy [RCV004816494]\|not provided [RCV000273596]	uncertain significance	8	10622873	10622873	Human	2	name
401775940	CV2692544	single nucleotide variant	NM_178857.6(RP1L1):c.859C>A (p.Pro287Thr)	Inborn genetic diseases [RCV003286263]	uncertain significance	8	10613239	10613239	Human	1	name
401767593	CV2727214	single nucleotide variant	NM_178857.6(RP1L1):c.614A>G (p.Asp205Gly)	Inborn genetic diseases [RCV003282915]	uncertain significance	8	10616583	10616583	Human	1	name
401888295	CV2788272	single nucleotide variant	NM_178857.6(RP1L1):c.302G>T (p.Cys101Phe)	Inborn genetic diseases [RCV003367680]	uncertain significance	8	10622900	10622900	Human	1	name
401888296	CV2788273	single nucleotide variant	NM_178857.6(RP1L1):c.303C>G (p.Cys101Trp)	Inborn genetic diseases [RCV003367681]\|Occult macular dystrophy [RCV003989838]	uncertain significance	8	10622899	10622899	Human	3	name
401871038	CV2788995	single nucleotide variant	NM_178857.6(RP1L1):c.943A>G (p.Met315Val)	Inborn genetic diseases [RCV003381434]	uncertain significance	8	10613155	10613155	Human	1	name
401923897	CV2820868	single nucleotide variant	NM_178857.6(RP1L1):c.6753G>A (p.Gly2251=)	not provided [RCV003435439]	likely benign	8	10607345	10607345	Human		name
401923899	CV2820869	single nucleotide variant	NM_178857.6(RP1L1):c.6270A>T (p.Ala2090=)	not provided [RCV003435440]	likely benign	8	10607828	10607828	Human		name
401923900	CV2820870	single nucleotide variant	NM_178857.6(RP1L1):c.6261C>T (p.Ala2087=)	not provided [RCV003435441]	likely benign	8	10607837	10607837	Human		name
401923903	CV2820872	single nucleotide variant	NM_178857.6(RP1L1):c.5610G>A (p.Glu1870=)	not provided [RCV003435443]	likely benign	8	10608488	10608488	Human		name
401909189	CV2820874	single nucleotide variant	NM_178857.6(RP1L1):c.5124G>A (p.Val1708=)	RP1L1-related disorder [RCV003908962]\|not provided [RCV003423903]	benign\|likely benign	8	10608974	10608974	Human	1	name , alternate_id
401923905	CV2820875	single nucleotide variant	NM_178857.6(RP1L1):c.4692G>A (p.Val1564=)	not provided [RCV003435444]	likely benign	8	10609406	10609406	Human		name
401923908	CV2820877	single nucleotide variant	NM_178857.6(RP1L1):c.3486C>T (p.Asp1162=)	not provided [RCV003435446]	likely benign	8	10610612	10610612	Human		name
401944863	CV2840661	single nucleotide variant	NM_178857.6(RP1L1):c.4479C>G (p.Ala1493=)	not provided [RCV003457532]	likely benign	8	10609619	10609619	Human		name
404992934	CV2850916	single nucleotide variant	NM_178857.6(RP1L1):c.539C>T (p.Ala180Val)	not provided [RCV003491413]	uncertain significance	8	10622663	10622663	Human		name
402492684	CV2877942	single nucleotide variant	NM_178857.6(RP1L1):c.376G>T (p.Ala126Ser)	not provided [RCV003545100]	uncertain significance	8	10622826	10622826	Human		name
405138269	CV2903488	single nucleotide variant	NM_178857.6(RP1L1):c.572T>G (p.Phe191Cys)	not provided [RCV003560631]	uncertain significance	8	10622630	10622630	Human		name
402473428	CV2908963	single nucleotide variant	NM_178857.6(RP1L1):c.528G>C (p.Arg176Ser)	not provided [RCV003570996]	uncertain significance	8	10622674	10622674	Human		name
405200543	CV2918499	single nucleotide variant	NM_178857.6(RP1L1):c.548G>T (p.Gly183Val)	not provided [RCV003565899]	uncertain significance	8	10622654	10622654	Human		name
405247562	CV2976663	single nucleotide variant	NM_178857.6(RP1L1):c.365G>C (p.Arg122Thr)	not provided [RCV003685689]	uncertain significance	8	10622837	10622837	Human		name
402491370	CV2981016	single nucleotide variant	NM_178857.6(RP1L1):c.637A>T (p.Ser213Cys)	Inborn genetic diseases [RCV004953371]\|not provided [RCV003713806]	uncertain significance	8	10616560	10616560	Human	1	name
404980582	CV3006117	single nucleotide variant	NM_178857.6(RP1L1):c.384G>C (p.Gln128His)	not provided [RCV003691147]	uncertain significance	8	10622818	10622818	Human		name
402524268	CV3011563	single nucleotide variant	NM_178857.6(RP1L1):c.381G>C (p.Gln127His)	not provided [RCV003716665]	uncertain significance	8	10622821	10622821	Human		name
405220677	CV3032189	single nucleotide variant	NM_178857.6(RP1L1):c.342T>G (p.Ser114Arg)	not provided [RCV003709923]	uncertain significance	8	10622860	10622860	Human		name
11587261	CV303788	single nucleotide variant	NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=)	Occult macular dystrophy [RCV000293675]\|RP1L1-related disorder [RCV003922611]\|not provided [RCV000512949]\|not specified [RCV001700352]	benign\|likely benign\|uncertain significance	8	10607051	10607051	Human	2	name , alternate_id
11655503	CV303797	single nucleotide variant	NM_178857.6(RP1L1):c.6603A>T (p.Ala2201=)	Occult macular dystrophy [RCV000326402]	uncertain significance	8	10607495	10607495	Human	2	name
11588859	CV303812	single nucleotide variant	NM_178857.6(RP1L1):c.6159C>T (p.Asp2053=)	Occult macular dystrophy [RCV000306398]\|not provided [RCV003422355]	benign\|likely benign\|uncertain significance	8	10607939	10607939	Human	2	name
11584083	CV303829	single nucleotide variant	NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=)	Occult macular dystrophy [RCV000271187]\|Occult macular dystrophy [RCV002502390]\|not provided [RCV004712455]	benign\|likely benign	8	10609616	10609616	Human	2	name
11598040	CV303835	single nucleotide variant	NM_178857.6(RP1L1):c.4062G>A (p.Ala1354=)	Occult macular dystrophy [RCV000400587]	benign\|uncertain significance	8	10610036	10610036	Human	2	name
11582655	CV303841	single nucleotide variant	NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=)	Occult macular dystrophy [RCV000261243]\|not provided [RCV001662340]\|not specified [RCV001530121]	benign	8	10610126	10610126	Human	2	name
11583938	CV303855	single nucleotide variant	NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=)	Occult macular dystrophy [RCV000270172]\|Occult macular dystrophy [RCV002502392]\|RP1L1-related disorder [RCV003922614]\|not provided [RCV001699398]	benign\|likely benign\|uncertain significance	8	10610897	10610897	Human	3	name , alternate_id
11598066	CV303908	single nucleotide variant	NM_178857.6(RP1L1):c.844A>C (p.Asn282His)	Occult macular dystrophy [RCV000400899]\|Occult macular dystrophy [RCV002488809]\|not provided [RCV001821097]	benign	8	10613254	10613254	Human	2	name
11588437	CV303911	single nucleotide variant	NM_178857.6(RP1L1):c.814C>G (p.Pro272Ala)	Occult macular dystrophy [RCV000302874]\|not provided [RCV004712477]	benign\|likely benign	8	10613284	10613284	Human	2	name
11584566	CV303914	single nucleotide variant	NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys)	Occult macular dystrophy [RCV000274892]\|RP1L1-related disorder [RCV003932493]\|Retinal dystrophy [RCV003888884]\|not provided [RCV000923441]	benign\|likely benign	8	10616575	10616575	Human	4	name , alternate_id
11592947	CV303918	single nucleotide variant	NM_178857.6(RP1L1):c.428C>T (p.Ser143Phe)	Occult macular dystrophy [RCV000344029]\|not provided [RCV002058690]	likely benign\|uncertain significance	8	10622774	10622774	Human	2	name
11589634	CV303921	single nucleotide variant	NM_178857.6(RP1L1):c.337C>T (p.Pro113Ser)	Occult macular dystrophy [RCV000312280]\|not provided [RCV001522117]	benign\|likely benign	8	10622865	10622865	Human	2	name
11595298	CV303923	single nucleotide variant	NM_178857.6(RP1L1):c.335C>G (p.Thr112Ser)	Occult macular dystrophy [RCV000369262]\|not provided [RCV001515802]	benign	8	10622867	10622867	Human	2	name
405245245	CV3055017	single nucleotide variant	NM_178857.6(RP1L1):c.388C>T (p.Arg130Trp)	Occult macular dystrophy [RCV005392672]\|Retinal dystrophy [RCV004818409]\|not provided [RCV003720237]	uncertain significance	8	10622814	10622814	Human	4	name
405223787	CV3061454	single nucleotide variant	NM_178857.6(RP1L1):c.476A>G (p.Asn159Ser)	not provided [RCV003733715]	uncertain significance	8	10622726	10622726	Human		name
11603963	CV307295	single nucleotide variant	NM_178857.6(RP1L1):c.6816C>T (p.Val2272=)	Occult macular dystrophy [RCV000305105]\|not provided [RCV004712442]	benign\|likely benign	8	10607282	10607282	Human	2	name
11601407	CV307296	single nucleotide variant	NM_178857.6(RP1L1):c.6522A>G (p.Gln2174=)	Occult macular dystrophy [RCV000282156]\|not provided [RCV004696045]	uncertain significance	8	10607576	10607576	Human	2	name
11602373	CV307340	single nucleotide variant	NM_178857.6(RP1L1):c.5643A>G (p.Gly1881=)	Occult macular dystrophy [RCV000290484]	benign	8	10608455	10608455	Human	2	name
11611344	CV307346	single nucleotide variant	NM_178857.6(RP1L1):c.5589T>A (p.Ala1863=)	Occult macular dystrophy [RCV000393470]	benign\|uncertain significance	8	10608509	10608509	Human	2	name
11610017	CV307351	single nucleotide variant	NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=)	Occult macular dystrophy [RCV000376039]\|not provided [RCV000513289]	benign\|likely benign\|uncertain significance	8	10608887	10608887	Human	2	name
11604441	CV307360	single nucleotide variant	NM_178857.6(RP1L1):c.4020A>G (p.Glu1340=)	Occult macular dystrophy [RCV000309272]\|not provided [RCV001594997]	benign	8	10610078	10610078	Human	2	name
11603402	CV307372	single nucleotide variant	NM_178857.6(RP1L1):c.3303C>T (p.Pro1101=)	Occult macular dystrophy [RCV000299787]\|RP1L1-related disorder [RCV003902408]	likely benign\|uncertain significance	8	10610795	10610795	Human	2	name , alternate_id
11610638	CV307378	single nucleotide variant	NM_178857.6(RP1L1):c.3027G>A (p.Ala1009=)	Occult macular dystrophy [RCV000384420]\|not provided [RCV004721343]	benign\|likely benign	8	10611071	10611071	Human	2	name
11611956	CV307434	single nucleotide variant	NM_178857.6(RP1L1):c.940C>T (p.Arg314Cys)	Occult macular dystrophy [RCV000401731]\|Retinal dystrophy [RCV003888881]	benign\|likely benign\|uncertain significance	8	10613158	10613158	Human	4	name
11600995	CV307446	single nucleotide variant	NM_178857.6(RP1L1):c.568C>A (p.Arg190Ser)	Occult macular dystrophy [RCV000278524]	uncertain significance	8	10622634	10622634	Human	2	name
11606783	CV307447	single nucleotide variant	NM_178857.6(RP1L1):c.547G>A (p.Gly183Ser)	Occult macular dystrophy [RCV000335889]\|Retinal dystrophy [RCV003888886]\|not provided [RCV000948800]	benign\|likely benign	8	10622655	10622655	Human	4	name
11607193	CV307464	single nucleotide variant	NM_178857.6(RP1L1):c.488G>A (p.Arg163His)	Occult macular dystrophy [RCV000340682]\|not provided [RCV002058689]	benign\|likely benign	8	10622714	10622714	Human	2	name
11600402	CV307479	single nucleotide variant	NM_178857.6(RP1L1):c.352C>T (p.Arg118Trp)	Occult macular dystrophy [RCV000273706]\|not provided [RCV001467563]	benign\|likely benign	8	10622850	10622850	Human	2	name
11611234	CV312143	single nucleotide variant	NM_178857.6(RP1L1):c.6993G>A (p.Thr2331=)	Occult macular dystrophy [RCV000392023]\|not provided [RCV004584696]	benign\|likely benign	8	10607105	10607105	Human	2	name
11599415	CV312151	single nucleotide variant	NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=)	Occult macular dystrophy [RCV000265580]\|Retinal dystrophy [RCV003888851]\|Retinitis pigmentosa 88 [RCV001795998]\|not provided [RCV001653730]\|not specified [RCV001528907]	benign	8	10607375	10607375	Human	6	name
11599415	CV312151	single nucleotide variant	NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=)	Occult macular dystrophy [RCV000265580]\|Retinal dystrophy [RCV003888851]\|Retinitis pigmentosa 88 [RCV001795998]\|not provided [RCV001653730]\|not specified [RCV001528907]	benign	8	10607375	10607376	Human	6	name
11610907	CV312156	single nucleotide variant	NM_178857.6(RP1L1):c.6600G>A (p.Glu2200=)	Occult macular dystrophy [RCV000388012]\|not provided [RCV000762487]	benign\|likely benign	8	10607498	10607498	Human	2	name
11605256	CV312177	single nucleotide variant	NM_178857.6(RP1L1):c.5793C>T (p.Asp1931=)	Occult macular dystrophy [RCV000317673]\|not provided [RCV005243214]	benign\|likely benign	8	10608305	10608305	Human	2	name
11603112	CV312181	single nucleotide variant	NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=)	Occult macular dystrophy [RCV000297033]\|not provided [RCV001726145]\|not specified [RCV001700354]	benign\|likely benign	8	10608677	10608677	Human	2	name
11611196	CV312233	single nucleotide variant	NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=)	Occult macular dystrophy [RCV000391834]\|Retinal dystrophy [RCV003888863]\|not provided [RCV001200301]	benign\|likely benign	8	10609427	10609427	Human	4	name
11606483	CV312251	single nucleotide variant	NM_178857.6(RP1L1):c.4440G>A (p.Pro1480=)	Occult macular dystrophy [RCV000332006]\|not provided [RCV004712457]	benign	8	10609658	10609658	Human	2	name
11601476	CV312254	single nucleotide variant	NM_178857.6(RP1L1):c.4323G>A (p.Pro1441=)	Occult macular dystrophy [RCV000282680]\|not provided [RCV001727707]\|not specified [RCV001700013]	benign\|likely benign	8	10609775	10609775	Human	2	name
11604359	CV312261	single nucleotide variant	NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=)	Occult macular dystrophy [RCV000308494]\|Retinitis pigmentosa 88 [RCV001796008]\|not provided [RCV004712460]\|not specified [RCV001529814]	benign	8	10610066	10610066	Human	4	name
11604359	CV312261	single nucleotide variant	NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=)	Occult macular dystrophy [RCV000308494]\|Retinitis pigmentosa 88 [RCV001796008]\|not provided [RCV004712460]\|not specified [RCV001529814]	benign	8	10610066	10610067	Human	4	name
11650991	CV312283	single nucleotide variant	NM_178857.6(RP1L1):c.6597A>G (p.Pro2199=)	Occult macular dystrophy [RCV000296112]	uncertain significance	8	10607501	10607501	Human	2	name
11604963	CV312291	single nucleotide variant	NM_178857.6(RP1L1):c.5997T>C (p.Asp1999=)	Occult macular dystrophy [RCV000314424]\|not provided [RCV004712447]	benign	8	10608101	10608101	Human	2	name
11607799	CV312302	single nucleotide variant	NM_178857.6(RP1L1):c.3660C>T (p.Asp1220=)	Occult macular dystrophy [RCV000347575]	benign\|uncertain significance	8	10610438	10610438	Human	2	name
11610650	CV312313	single nucleotide variant	NM_178857.6(RP1L1):c.4953G>A (p.Ala1651=)	Occult macular dystrophy [RCV000384596]\|Retinal dystrophy [RCV003888861]	benign\|likely benign	8	10609145	10609145	Human	4	name
11607886	CV312315	single nucleotide variant	NM_178857.6(RP1L1):c.4797G>T (p.Leu1599=)	Occult macular dystrophy [RCV000348723]	benign\|likely benign	8	10609301	10609301	Human	2	name
11601297	CV312316	single nucleotide variant	NM_178857.6(RP1L1):c.4746G>A (p.Arg1582=)	Occult macular dystrophy [RCV000281060]\|RP1L1-related disorder [RCV003950282]	likely benign\|uncertain significance	8	10609352	10609352	Human	2	name , alternate_id
11600003	CV312319	single nucleotide variant	NM_178857.6(RP1L1):c.4542C>T (p.Cys1514=)	Occult macular dystrophy [RCV000270101]	likely benign\|uncertain significance	8	10609556	10609556	Human	2	name
11611145	CV312321	single nucleotide variant	NM_178857.6(RP1L1):c.3582G>T (p.Thr1194=)	Occult macular dystrophy [RCV000390401]	benign\|likely benign	8	10610516	10610516	Human	2	name
11653856	CV312328	single nucleotide variant	NM_178857.6(RP1L1):c.3378G>A (p.Gln1126=)	Occult macular dystrophy [RCV000313685]	uncertain significance	8	10610720	10610720	Human	2	name
11610236	CV312351	single nucleotide variant	NM_178857.6(RP1L1):c.3231C>G (p.Gly1077=)	Occult macular dystrophy [RCV000379107]\|RP1L1-related disorder [RCV003972522]	benign\|likely benign\|uncertain significance	8	10610867	10610867	Human	2	name , alternate_id
11601877	CV312367	single nucleotide variant	NM_178857.6(RP1L1):c.3921A>G (p.Lys1307=)	Occult macular dystrophy [RCV000286293]	uncertain significance	8	10610177	10610177	Human	2	name
11608747	CV312379	single nucleotide variant	NM_178857.6(RP1L1):c.3303C>G (p.Pro1101=)	Occult macular dystrophy [RCV000359342]\|not provided [RCV002512092]	benign\|likely benign	8	10610795	10610795	Human	2	name
11607042	CV312451	single nucleotide variant	NM_178857.6(RP1L1):c.850C>G (p.Pro284Ala)	Occult macular dystrophy [RCV000338682]\|not provided [RCV004712476]	benign\|likely benign	8	10613248	10613248	Human	2	name
11604119	CV312458	single nucleotide variant	NM_178857.6(RP1L1):c.776C>A (p.Pro259Gln)	Inborn genetic diseases [RCV002523620]\|Occult macular dystrophy [RCV000306249]	benign\|likely benign	8	10613322	10613322	Human	3	name
11600139	CV312462	single nucleotide variant	NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr)	Occult macular dystrophy [RCV000271188]\|Retinal dystrophy [RCV003888882]\|not provided [RCV002058688]	benign\|likely benign	8	10616527	10616527	Human	4	name
11606175	CV312463	single nucleotide variant	NM_178857.6(RP1L1):c.665A>C (p.His222Pro)	Occult macular dystrophy [RCV000328547]\|Retinal dystrophy [RCV003888883]\|Retinitis pigmentosa 88 [RCV001796015]\|not provided [RCV001515801]\|not specified [RCV001528934]	benign	8	10616532	10616532	Human	5	name
11608834	CV312488	single nucleotide variant	NM_178857.6(RP1L1):c.793C>G (p.Arg265Gly)	Occult macular dystrophy [RCV000360075]\|RP1L1-related disorder [RCV003957852]	benign\|likely benign	8	10613305	10613305	Human	2	name , alternate_id
11610985	CV312490	single nucleotide variant	NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys)	Occult macular dystrophy [RCV000389130]\|Retinal dystrophy [RCV003888885]\|not provided [RCV000892343]	benign\|likely benign	8	10622634	10622634	Human	4	name
11611691	CV312491	single nucleotide variant	NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly)	Inborn genetic diseases [RCV002524539]\|Occult macular dystrophy [RCV000398766]\|not provided [RCV000998995]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	10622715	10622715	Human	3	name
11609238	CV312494	single nucleotide variant	NM_178857.6(RP1L1):c.407G>A (p.Arg136His)	Inborn genetic diseases [RCV002524540]\|Occult macular dystrophy [RCV000365874]\|not provided [RCV000585100]\|not specified [RCV001700016]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	10622795	10622795	Human	3	name
405205367	CV3144227	single nucleotide variant	NM_178857.6(RP1L1):c.346C>T (p.Pro116Ser)	not provided [RCV003845017]	uncertain significance	8	10622856	10622856	Human		name
405174702	CV3148177	single nucleotide variant	NM_178857.6(RP1L1):c.356C>T (p.Pro119Leu)	not provided [RCV003858149]	uncertain significance	8	10622846	10622846	Human		name
405188270	CV3149248	single nucleotide variant	NM_178857.6(RP1L1):c.355C>T (p.Pro119Ser)	not provided [RCV003843174]	uncertain significance	8	10622847	10622847	Human		name
405132619	CV3163821	single nucleotide variant	NM_178857.6(RP1L1):c.344G>A (p.Gly115Glu)	not provided [RCV003854809]	uncertain significance	8	10622858	10622858	Human		name
405239468	CV3165929	single nucleotide variant	NM_178857.6(RP1L1):c.471T>G (p.Ile157Met)	not provided [RCV003866941]	uncertain significance	8	10622731	10622731	Human		name
405264829	CV3188253	single nucleotide variant	NM_178857.6(RP1L1):c.6618A>G (p.Gln2206=)	Retinal dystrophy [RCV003891201]	likely benign	8	10607480	10607480	Human	2	name
405264836	CV3188259	single nucleotide variant	NM_178857.6(RP1L1):c.6312A>G (p.Pro2104=)	Retinal dystrophy [RCV003891207]	benign	8	10607786	10607786	Human	2	name
405264840	CV3188261	single nucleotide variant	NM_178857.6(RP1L1):c.6009A>G (p.Pro2003=)	Retinal dystrophy [RCV003891209]	uncertain significance	8	10608089	10608089	Human	2	name
405264843	CV3188263	single nucleotide variant	NM_178857.6(RP1L1):c.5802G>A (p.Glu1934=)	Retinal dystrophy [RCV003891211]	uncertain significance	8	10608296	10608296	Human	2	name
405264845	CV3188266	single nucleotide variant	NM_178857.6(RP1L1):c.5739G>A (p.Lys1913=)	Retinal dystrophy [RCV003891214]	uncertain significance	8	10608359	10608359	Human	2	name
405264856	CV3188275	single nucleotide variant	NM_178857.6(RP1L1):c.5280C>T (p.Leu1760=)	Retinal dystrophy [RCV003891223]	uncertain significance	8	10608818	10608818	Human	2	name
405264857	CV3188276	single nucleotide variant	NM_178857.6(RP1L1):c.5160T>C (p.Thr1720=)	Retinal dystrophy [RCV003891224]	likely benign	8	10608938	10608938	Human	2	name
405264858	CV3188277	single nucleotide variant	NM_178857.6(RP1L1):c.5154G>C (p.Thr1718=)	Retinal dystrophy [RCV003891225]	likely pathogenic	8	10608944	10608944	Human	2	name
405257179	CV3188278	single nucleotide variant	NM_178857.6(RP1L1):c.5145G>A (p.Thr1715=)	RP1L1-related disorder [RCV003981198]\|Retinal dystrophy [RCV003891226]	likely benign\|uncertain significance	8	10608953	10608953	Human	3	name , alternate_id
405264861	CV3188279	single nucleotide variant	NM_178857.6(RP1L1):c.5079G>A (p.Leu1693=)	Retinal dystrophy [RCV003891227]	uncertain significance	8	10609019	10609019	Human	2	name
405264901	CV3188282	single nucleotide variant	NM_178857.6(RP1L1):c.5016C>T (p.Pro1672=)	Retinal dystrophy [RCV003891230]	uncertain significance	8	10609082	10609082	Human	2	name
405264864	CV3188283	single nucleotide variant	NM_178857.6(RP1L1):c.5016C>G (p.Pro1672=)	Retinal dystrophy [RCV003891231]	uncertain significance	8	10609082	10609082	Human	2	name
405264865	CV3188284	single nucleotide variant	NM_178857.6(RP1L1):c.4986C>T (p.Cys1662=)	Retinal dystrophy [RCV003891232]	uncertain significance	8	10609112	10609112	Human	2	name
405264869	CV3188286	single nucleotide variant	NM_178857.6(RP1L1):c.4800C>G (p.Leu1600=)	Retinal dystrophy [RCV003891234]	uncertain significance	8	10609298	10609298	Human	2	name
405257180	CV3188293	single nucleotide variant	NM_178857.6(RP1L1):c.4560C>T (p.Ser1520=)	RP1L1-related disorder [RCV003968904]\|Retinal dystrophy [RCV003891241]	likely benign\|uncertain significance	8	10609538	10609538	Human	3	name , alternate_id
405257181	CV3188294	single nucleotide variant	NM_178857.6(RP1L1):c.4515G>A (p.Ser1505=)	RP1L1-related disorder [RCV003981199]\|Retinal dystrophy [RCV003891242]	likely benign\|uncertain significance	8	10609583	10609583	Human	3	name , alternate_id
405264879	CV3188296	single nucleotide variant	NM_178857.6(RP1L1):c.4407T>C (p.Ser1469=)	Retinal dystrophy [RCV003891244]	uncertain significance	8	10609691	10609691	Human	2	name
405264881	CV3188297	single nucleotide variant	NM_178857.6(RP1L1):c.4263C>T (p.Ser1421=)	Retinal dystrophy [RCV003891245]	uncertain significance	8	10609835	10609835	Human	2	name
405257184	CV3188308	single nucleotide variant	NM_178857.6(RP1L1):c.3582G>A (p.Thr1194=)	RP1L1-related disorder [RCV003949102]\|Retinal dystrophy [RCV003891256]	likely benign	8	10610516	10610516	Human	3	name , alternate_id
405264912	CV3188309	single nucleotide variant	NM_178857.6(RP1L1):c.3570G>A (p.Thr1190=)	Retinal dystrophy [RCV003891257]	uncertain significance	8	10610528	10610528	Human	2	name
405264916	CV3188311	single nucleotide variant	NM_178857.6(RP1L1):c.3417G>A (p.Val1139=)	Retinal dystrophy [RCV003891259]	uncertain significance	8	10610681	10610681	Human	2	name
405264922	CV3188314	single nucleotide variant	NM_178857.6(RP1L1):c.3261G>A (p.Arg1087=)	Retinal dystrophy [RCV003891262]	uncertain significance	8	10610837	10610837	Human	2	name
405262769	CV3188317	single nucleotide variant	NM_178857.6(RP1L1):c.3180A>G (p.Ala1060=)	Retinal dystrophy [RCV003889381]	uncertain significance	8	10610918	10610918	Human	2	name
405262771	CV3188318	single nucleotide variant	NM_178857.6(RP1L1):c.3165T>C (p.Pro1055=)	Retinal dystrophy [RCV003889382]	uncertain significance	8	10610933	10610933	Human	2	name
405262772	CV3188319	single nucleotide variant	NM_178857.6(RP1L1):c.3144A>G (p.Pro1048=)	Retinal dystrophy [RCV003889383]	uncertain significance	8	10610954	10610954	Human	2	name
405262933	CV3188361	single nucleotide variant	NM_178857.6(RP1L1):c.995T>C (p.Val332Ala)	Retinal dystrophy [RCV003889425]	likely benign	8	10613103	10613103	Human	2	name
405262935	CV3188362	single nucleotide variant	NM_178857.6(RP1L1):c.994G>A (p.Val332Ile)	Retinal dystrophy [RCV003889426]	likely benign	8	10613104	10613104	Human	2	name
405262940	CV3188365	single nucleotide variant	NM_178857.6(RP1L1):c.728G>C (p.Gly243Ala)	Retinal dystrophy [RCV003889429]	uncertain significance	8	10616469	10616469	Human	2	name
405262942	CV3188366	single nucleotide variant	NM_178857.6(RP1L1):c.583C>T (p.Gln195Ter)	Retinal dystrophy [RCV003889430]	likely pathogenic	8	10622619	10622619	Human	2	name
405262947	CV3188369	single nucleotide variant	NM_178857.6(RP1L1):c.451C>T (p.Pro151Ser)	Retinal dystrophy [RCV003889433]	uncertain significance	8	10622751	10622751	Human	2	name
405262949	CV3188370	single nucleotide variant	NM_178857.6(RP1L1):c.412G>A (p.Ala138Thr)	Retinal dystrophy [RCV003889434]	uncertain significance	8	10622790	10622790	Human	2	name
405262950	CV3188371	single nucleotide variant	NM_178857.6(RP1L1):c.397G>T (p.Glu133Ter)	Retinal dystrophy [RCV003889435]	likely pathogenic	8	10622805	10622805	Human	2	name
405286335	CV3192729	single nucleotide variant	NM_178857.6(RP1L1):c.5316A>G (p.Arg1772=)	RP1L1-related disorder [RCV003981481]	likely benign	8	10608782	10608782	Human		name , trait , alternate_id
405274473	CV3208776	single nucleotide variant	NM_178857.6(RP1L1):c.5154G>A (p.Thr1718=)	RP1L1-related disorder [RCV003951585]	likely benign	8	10608944	10608944	Human		name , trait , alternate_id
405285911	CV3209768	single nucleotide variant	NM_178857.6(RP1L1):c.4218C>T (p.His1406=)	RP1L1-related disorder [RCV003959326]	likely benign	8	10609880	10609880	Human		name , trait , alternate_id
405289948	CV3213955	single nucleotide variant	NM_178857.6(RP1L1):c.3618C>T (p.Gly1206=)	RP1L1-related disorder [RCV003926808]	likely benign	8	10610480	10610480	Human		name , trait , alternate_id
405290214	CV3214147	single nucleotide variant	NM_178857.6(RP1L1):c.3147G>A (p.Glu1049=)	RP1L1-related disorder [RCV003926981]	likely benign	8	10610951	10610951	Human		name , trait , alternate_id
405278400	CV3216567	single nucleotide variant	NM_178857.6(RP1L1):c.6954T>C (p.His2318=)	RP1L1-related disorder [RCV003954477]	likely benign	8	10607144	10607144	Human		name , trait , alternate_id
405279868	CV3217626	single nucleotide variant	NM_178857.6(RP1L1):c.3615C>T (p.Ser1205=)	RP1L1-related disorder [RCV003976994]	likely benign	8	10610483	10610483	Human		name , trait , alternate_id
405289995	CV3218869	single nucleotide variant	NM_178857.6(RP1L1):c.3855G>A (p.Ala1285=)	RP1L1-related disorder [RCV003962009]\|not provided [RCV004707843]	likely benign	8	10610243	10610243	Human	1	name , alternate_id
405719635	CV3309892	single nucleotide variant	NM_178857.6(RP1L1):c.358C>A (p.Gln120Lys)	Inborn genetic diseases [RCV004449640]\|not provided [RCV004767546]	uncertain significance	8	10622844	10622844	Human	1	name
405719830	CV3309918	single nucleotide variant	NM_178857.6(RP1L1):c.505G>A (p.Val169Ile)	Inborn genetic diseases [RCV004449666]	uncertain significance	8	10622697	10622697	Human	1	name
405720005	CV3309942	single nucleotide variant	NM_178857.6(RP1L1):c.763C>A (p.Pro255Thr)	Inborn genetic diseases [RCV004449690]	uncertain significance	8	10613335	10613335	Human	1	name
405720012	CV3309943	single nucleotide variant	NM_178857.6(RP1L1):c.776C>T (p.Pro259Leu)	Inborn genetic diseases [RCV004449691]	uncertain significance	8	10613322	10613322	Human	1	name
405720016	CV3309944	single nucleotide variant	NM_178857.6(RP1L1):c.945G>A (p.Met315Ile)	Inborn genetic diseases [RCV004449692]	uncertain significance	8	10613153	10613153	Human	1	name
405720024	CV3309945	single nucleotide variant	NM_178857.6(RP1L1):c.983G>C (p.Arg328Pro)	Inborn genetic diseases [RCV004449693]	uncertain significance	8	10613115	10613115	Human	1	name
596939183	CV3407745	single nucleotide variant	NM_178857.6(RP1L1):c.800C>T (p.Pro267Leu)	Retinal dystrophy [RCV004814205]	uncertain significance	8	10613298	10613298	Human	2	name
596939282	CV3407770	single nucleotide variant	NM_178857.6(RP1L1):c.553G>T (p.Ala185Ser)	Retinal dystrophy [RCV004814230]	uncertain significance	8	10622649	10622649	Human	2	name
407487370	CV3476010	single nucleotide variant	NM_178857.6(RP1L1):c.708C>A (p.Ser236Arg)	Inborn genetic diseases [RCV004665661]	uncertain significance	8	10616489	10616489	Human	1	name
407487383	CV3476014	single nucleotide variant	NM_178857.6(RP1L1):c.298G>A (p.Gly100Ser)	Inborn genetic diseases [RCV004665664]	uncertain significance	8	10622904	10622904	Human	1	name
407487397	CV3476020	single nucleotide variant	NM_178857.6(RP1L1):c.631C>A (p.Leu211Met)	Inborn genetic diseases [RCV004665668]	uncertain significance	8	10616566	10616566	Human	1	name
407487274	CV3479922	single nucleotide variant	NM_178857.6(RP1L1):c.770C>T (p.Thr257Ile)	Inborn genetic diseases [RCV004665637]	uncertain significance	8	10613328	10613328	Human	1	name
407487318	CV3479939	single nucleotide variant	NM_178857.6(RP1L1):c.953A>T (p.Asp318Val)	Inborn genetic diseases [RCV004665649]	uncertain significance	8	10613145	10613145	Human	1	name
408378219	CV3511477	single nucleotide variant	NM_178857.6(RP1L1):c.812C>T (p.Thr271Met)	Inborn genetic diseases [RCV004953722]\|RP1L1-related disorder [RCV004752178]	uncertain significance	8	10613286	10613286	Human	2	name , alternate_id
408378351	CV3512129	single nucleotide variant	NM_178857.6(RP1L1):c.5418A>G (p.Gln1806=)	RP1L1-related disorder [RCV004752222]	likely benign	8	10608680	10608680	Human		name , trait , alternate_id
408378522	CV3512670	single nucleotide variant	NM_178857.6(RP1L1):c.4977C>T (p.Cys1659=)	RP1L1-related disorder [RCV004752256]	likely benign	8	10609121	10609121	Human		name , trait , alternate_id
408378583	CV3513561	single nucleotide variant	NM_178857.6(RP1L1):c.4374C>T (p.Ser1458=)	RP1L1-related disorder [RCV004752289]	likely benign	8	10609724	10609724	Human		name , trait , alternate_id
597719441	CV3587014	single nucleotide variant	NM_178857.6(RP1L1):c.415C>G (p.Pro139Ala)	Inborn genetic diseases [RCV004960304]	uncertain significance	8	10622787	10622787	Human	1	name
597719462	CV3587019	single nucleotide variant	NM_178857.6(RP1L1):c.794G>A (p.Arg265Gln)	Inborn genetic diseases [RCV004960308]	uncertain significance	8	10613304	10613304	Human	1	name
597719586	CV3587039	single nucleotide variant	NM_178857.6(RP1L1):c.941G>A (p.Arg314His)	Inborn genetic diseases [RCV004960325]	likely benign	8	10613157	10613157	Human	1	name
597719612	CV3587044	single nucleotide variant	NM_178857.6(RP1L1):c.831G>T (p.Arg277Ser)	Inborn genetic diseases [RCV004960329]	uncertain significance	8	10613267	10613267	Human	1	name
597719663	CV3587052	single nucleotide variant	NM_178857.6(RP1L1):c.478A>G (p.Met160Val)	Inborn genetic diseases [RCV004960337]	uncertain significance	8	10622724	10622724	Human	1	name
597720305	CV3587069	single nucleotide variant	NM_178857.6(RP1L1):c.983G>A (p.Arg328His)	Inborn genetic diseases [RCV004960351]	uncertain significance	8	10613115	10613115	Human	1	name
597726592	CV3587088	single nucleotide variant	NM_178857.6(RP1L1):c.532C>G (p.Leu178Val)	Inborn genetic diseases [RCV004962325]	uncertain significance	8	10622670	10622670	Human	1	name
12743273	CV361318	single nucleotide variant	NM_178857.6(RP1L1):c.4725G>A (p.Glu1575=)	not provided [RCV000416249]	uncertain significance	8	10609373	10609373	Human		name
597865308	CV3742305	single nucleotide variant	NM_178857.6(RP1L1):c.751G>T (p.Gly251Trp)	not provided [RCV005067921]	uncertain significance	8	10616446	10616446	Human		name
597884388	CV3745468	single nucleotide variant	NM_178857.6(RP1L1):c.553G>C (p.Ala185Pro)	not provided [RCV005070304]	uncertain significance	8	10622649	10622649	Human		name
597913490	CV3770946	single nucleotide variant	NM_178857.6(RP1L1):c.314C>T (p.Ser105Phe)	not provided [RCV005114064]	uncertain significance	8	10622888	10622888	Human		name
597922046	CV3775012	single nucleotide variant	NM_178857.6(RP1L1):c.688A>C (p.Met230Leu)	not provided [RCV005115358]	uncertain significance	8	10616509	10616509	Human		name
597934199	CV3776933	single nucleotide variant	NM_178857.6(RP1L1):c.723A>T (p.Leu241Phe)	not provided [RCV005117092]	uncertain significance	8	10616474	10616474	Human		name
597960379	CV3798042	single nucleotide variant	NM_178857.6(RP1L1):c.386T>A (p.Leu129Ter)	not provided [RCV005138516]	uncertain significance	8	10622816	10622816	Human		name
597872509	CV3805338	single nucleotide variant	NM_178857.6(RP1L1):c.658G>A (p.Ala220Thr)	not provided [RCV005148616]	uncertain significance	8	10616539	10616539	Human		name
597891543	CV3809700	single nucleotide variant	NM_178857.6(RP1L1):c.644C>G (p.Ser215Cys)	not provided [RCV005151419]	uncertain significance	8	10616553	10616553	Human		name
597915841	CV3814643	single nucleotide variant	NM_178857.6(RP1L1):c.407G>C (p.Arg136Pro)	not provided [RCV005154958]	uncertain significance	8	10622795	10622795	Human		name
598129773	CV3887194	single nucleotide variant	NM_178857.6(RP1L1):c.6780C>A (p.Gly2260=)	not provided [RCV005245254]	likely benign	8	10607318	10607318	Human		name
598219424	CV3906178	single nucleotide variant	NM_178857.6(RP1L1):c.448A>C (p.Thr150Pro)	Inborn genetic diseases [RCV005272161]	uncertain significance	8	10622754	10622754	Human	1	name
598219347	CV3906199	single nucleotide variant	NM_178857.6(RP1L1):c.440G>A (p.Ser147Asn)	Inborn genetic diseases [RCV005272182]	uncertain significance	8	10622762	10622762	Human	1	name
598219323	CV3906203	single nucleotide variant	NM_178857.6(RP1L1):c.960C>G (p.Ser320Arg)	Inborn genetic diseases [RCV005272186]	uncertain significance	8	10613138	10613138	Human	1	name
598218037	CV3906217	single nucleotide variant	NM_178857.6(RP1L1):c.600C>A (p.Ser200Arg)	Inborn genetic diseases [RCV005272200]	uncertain significance	8	10622602	10622602	Human	1	name
598176908	CV4008208	single nucleotide variant	NM_178857.6(RP1L1):c.462A>G (p.Ile154Met)	Occult macular dystrophy [RCV005393724]	uncertain significance	8	10622740	10622740	Human	2	name
598176919	CV4008210	single nucleotide variant	NM_178857.6(RP1L1):c.838C>T (p.Pro280Ser)	Occult macular dystrophy [RCV005393726]	uncertain significance	8	10613260	10613260	Human	2	name
617149750	CV4021272	single nucleotide variant	NM_178857.6(RP1L1):c.4629A>G (p.Ala1543=)	not provided [RCV005425241]	likely benign	8	10609469	10609469	Human		name
13446133	CV438379	single nucleotide variant	NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile)	Occult macular dystrophy [RCV000765984]\|Retinal dystrophy [RCV004817746]\|not provided [RCV000513317]	likely pathogenic\|likely benign\|uncertain significance	8	10622753	10622753	Human	4	name
13445634	CV438380	single nucleotide variant	NM_178857.6(RP1L1):c.394G>A (p.Val132Ile)	not provided [RCV000512655]	uncertain significance	8	10622808	10622808	Human		name
13519398	CV486437	single nucleotide variant	NM_178857.6(RP1L1):c.498G>C (p.Gln166His)	not provided [RCV000585631]	uncertain significance	8	10622704	10622704	Human		name
14397282	CV612798	deletion	NM_178857.6(RP1L1):c.2327del (p.Ile776fs)	not provided [RCV000762491]	uncertain significance	8	10611771	10611771	Human		name
15132772	CV736392	single nucleotide variant	NM_178857.6(RP1L1):c.523A>G (p.Thr175Ala)	Inborn genetic diseases [RCV002540163]\|RP1L1-related disorder [RCV003922904]\|not provided [RCV000898016]	likely benign\|uncertain significance	8	10622679	10622679	Human	2	name , alternate_id
15156245	CV736393	single nucleotide variant	NM_178857.6(RP1L1):c.389G>A (p.Arg130Gln)	Inborn genetic diseases [RCV002537556]\|not provided [RCV000902295]	likely benign\|uncertain significance	8	10622813	10622813	Human	1	name
21069701	CV796107	single nucleotide variant	NM_178857.6(RP1L1):c.5223C>T (p.Asp1741=)	not provided [RCV000998986]	uncertain significance	8	10608875	10608875	Human		name
26910862	CV856576	deletion	NM_178857.6(RP1L1):c.1451del (p.Ser484fs)	Retinal dystrophy [RCV001075576]\|Retinitis pigmentosa 88 [RCV001593256]	pathogenic\|likely pathogenic	8	10612647	10612647	Human	3	name
26911013	CV856580	single nucleotide variant	NM_178857.6(RP1L1):c.955G>A (p.Gly319Ser)	Retinal dystrophy [RCV001075796]	uncertain significance	8	10613143	10613143	Human	2	name
26910032	CV856582	single nucleotide variant	NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg)	Inborn genetic diseases [RCV002554708]\|Occult macular dystrophy [RCV005429047]\|Retinal dystrophy [RCV001074309]\|not provided [RCV001862551]	uncertain significance\|not provided	8	10622601	10622601	Human	5	name
28910608	CV898616	single nucleotide variant	NM_178857.6(RP1L1):c.7149C>A (p.Pro2383=)	Occult macular dystrophy [RCV001161570]	uncertain significance	8	10606949	10606949	Human	2	name
28910610	CV898617	single nucleotide variant	NM_178857.6(RP1L1):c.7143C>A (p.Leu2381=)	Occult macular dystrophy [RCV001161571]\|not provided [RCV003433061]	benign\|likely benign	8	10606955	10606955	Human	2	name
28874054	CV898621	single nucleotide variant	NM_178857.6(RP1L1):c.6729A>T (p.Gly2243=)	Occult macular dystrophy [RCV001165185]	uncertain significance	8	10607369	10607369	Human	2	name
28910769	CV898628	single nucleotide variant	NM_178857.6(RP1L1):c.6429T>A (p.Pro2143=)	Occult macular dystrophy [RCV001161685]\|not provided [RCV004695039]	uncertain significance	8	10607669	10607669	Human	2	name
28869702	CV898631	single nucleotide variant	NM_178857.6(RP1L1):c.6291A>G (p.Glu2097=)	Occult macular dystrophy [RCV001163204]	uncertain significance	8	10607807	10607807	Human	2	name
28869705	CV898632	single nucleotide variant	NM_178857.6(RP1L1):c.6276G>A (p.Gly2092=)	Occult macular dystrophy [RCV001163205]	benign	8	10607822	10607822	Human	2	name
28874306	CV898635	single nucleotide variant	NM_178857.6(RP1L1):c.6174G>A (p.Pro2058=)	Occult macular dystrophy [RCV001165299]\|Retinal dystrophy [RCV003890336]\|not provided [RCV001699515]	benign\|likely benign	8	10607924	10607924	Human	4	name
28905702	CV898638	single nucleotide variant	NM_178857.6(RP1L1):c.6015T>A (p.Ala2005=)	Occult macular dystrophy [RCV001158572]	uncertain significance	8	10608083	10608083	Human	2	name
28905706	CV898640	single nucleotide variant	NM_178857.6(RP1L1):c.5967A>T (p.Ala1989=)	Occult macular dystrophy [RCV001158574]	uncertain significance	8	10608131	10608131	Human	2	name
28869928	CV898645	single nucleotide variant	NM_178857.6(RP1L1):c.5727G>A (p.Pro1909=)	Occult macular dystrophy [RCV001163312]	benign	8	10608371	10608371	Human	2	name
28867470	CV898652	single nucleotide variant	NM_178857.6(RP1L1):c.4905C>T (p.Asp1635=)	Occult macular dystrophy [RCV001161905]\|not provided [RCV003433063]	benign\|likely benign	8	10609193	10609193	Human	2	name
28870194	CV898653	single nucleotide variant	NM_178857.6(RP1L1):c.4788C>T (p.Thr1596=)	Occult macular dystrophy [RCV001163427]\|not provided [RCV004712975]	benign	8	10609310	10609310	Human	2	name
28870197	CV898654	single nucleotide variant	NM_178857.6(RP1L1):c.4674C>T (p.Ala1558=)	Occult macular dystrophy [RCV001163428]	likely benign	8	10609424	10609424	Human	2	name
28906129	CV898655	single nucleotide variant	NM_178857.6(RP1L1):c.4440G>T (p.Pro1480=)	Occult macular dystrophy [RCV001158799]\|Retinal dystrophy [RCV003890317]	benign\|likely benign	8	10609658	10609658	Human	4	name
28870432	CV898662	single nucleotide variant	NM_178857.6(RP1L1):c.4056A>G (p.Glu1352=)	Occult macular dystrophy [RCV001163523]	uncertain significance	8	10610042	10610042	Human	2	name
28870436	CV898664	single nucleotide variant	NM_178857.6(RP1L1):c.4044A>G (p.Gly1348=)	Occult macular dystrophy [RCV001163525]\|not provided [RCV001560228]	benign\|likely benign	8	10610054	10610054	Human	2	name
28870439	CV898665	single nucleotide variant	NM_178857.6(RP1L1):c.4038A>G (p.Gly1346=)	Occult macular dystrophy [RCV001163526]	uncertain significance	8	10610060	10610060	Human	2	name
28906323	CV898671	single nucleotide variant	NM_178857.6(RP1L1):c.3981A>G (p.Thr1327=)	Occult macular dystrophy [RCV001158907]\|not provided [RCV001726438]\|not specified [RCV001700704]	benign\|likely benign	8	10610117	10610117	Human	2	name
28868091	CV898724	single nucleotide variant	NM_178857.6(RP1L1):c.967G>A (p.Val323Met)	Occult macular dystrophy [RCV001162279]\|RP1L1-related disorder [RCV004751897]	likely benign\|uncertain significance	8	10613131	10613131	Human	2	name , alternate_id
28872255	CV898725	single nucleotide variant	NM_178857.6(RP1L1):c.919G>A (p.Asp307Asn)	Occult macular dystrophy [RCV001164310]	uncertain significance	8	10613179	10613179	Human	2	name
28872258	CV898726	single nucleotide variant	NM_178857.6(RP1L1):c.917G>C (p.Gly306Ala)	Inborn genetic diseases [RCV002558590]\|Occult macular dystrophy [RCV001164311]\|not provided [RCV001699514]	likely benign\|uncertain significance	8	10613181	10613181	Human	3	name
28872262	CV898727	single nucleotide variant	NM_178857.6(RP1L1):c.905C>T (p.Pro302Leu)	Occult macular dystrophy [RCV001164313]\|not provided [RCV004761942]	likely benign\|uncertain significance	8	10613193	10613193	Human	2	name
28907221	CV898729	single nucleotide variant	NM_178857.6(RP1L1):c.851C>T (p.Pro284Leu)	Occult macular dystrophy [RCV001159395]\|not provided [RCV004712964]\|not specified [RCV001701293]	benign	8	10613247	10613247	Human	2	name
28868265	CV898731	single nucleotide variant	NM_178857.6(RP1L1):c.477C>A (p.Asn159Lys)	Inborn genetic diseases [RCV005268918]\|Occult macular dystrophy [RCV001162383]\|not provided [RCV001859049]	likely benign\|uncertain significance	8	10622725	10622725	Human	3	name
28872509	CV898732	single nucleotide variant	NM_178857.6(RP1L1):c.371C>T (p.Pro124Leu)	Occult macular dystrophy [RCV001164430]\|not provided [RCV001859056]	likely benign\|uncertain significance	8	10622831	10622831	Human	2	name
126756195	CV992540	single nucleotide variant	NM_178857.6(RP1L1):c.520A>C (p.Asn174His)	not provided [RCV001308043]	uncertain significance	8	10622682	10622682	Human		name
126734787	CV1020427	deletion	NM_178857.6(RP1L1):c.4021del (p.Thr1341fs)	Occult macular dystrophy [RCV001334698]	pathogenic	8	10610077	10610077	Human	1	name
150453817	CV1203898	single nucleotide variant	NM_178857.6(RP1L1):c.2464C>T (p.Arg822Ter)	Retinitis pigmentosa 88 [RCV001591847]	pathogenic	8	10611634	10611634	Human	1	name
150487681	CV1274149	single nucleotide variant	NM_178857.6(RP1L1):c.2807G>A (p.Gly936Glu)	not provided [RCV001699605]	likely benign	8	10611291	10611291	Human		name
150487858	CV1274360	single nucleotide variant	NM_178857.6(RP1L1):c.1702G>C (p.Ala568Pro)	not provided [RCV001726633]\|not specified [RCV001699661]	benign\|likely benign	8	10612396	10612396	Human		name
150488929	CV1274435	single nucleotide variant	NM_178857.6(RP1L1):c.1169G>A (p.Gly390Glu)	not provided [RCV001699989]	uncertain significance	8	10612929	10612929	Human		name
150516611	CV1287446	single nucleotide variant	NM_178857.6(RP1L1):c.1030G>T (p.Gly344Cys)	not provided [RCV001723425]	uncertain significance	8	10613068	10613068	Human		name
150551004	CV1292391	single nucleotide variant	NM_178857.6(RP1L1):c.1937G>C (p.Ser646Thr)	not provided [RCV001753998]	uncertain significance	8	10612161	10612161	Human		name
150553014	CV1298021	single nucleotide variant	NM_178857.6(RP1L1):c.2042C>T (p.Ser681Phe)	not provided [RCV001768634]	uncertain significance	8	10612056	10612056	Human		name
150553654	CV1303975	single nucleotide variant	NM_178857.6(RP1L1):c.2146T>C (p.Ser716Pro)	Inborn genetic diseases [RCV003264087]\|not provided [RCV001769360]	uncertain significance	8	10611952	10611952	Human	1	name
151235414	CV1318708	single nucleotide variant	NM_178857.6(RP1L1):c.1298G>A (p.Arg433His)	not provided [RCV001795525]	uncertain significance	8	10612800	10612800	Human		name
9480349	CV152882	single nucleotide variant	NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter)	Retinal dystrophy [RCV001074141]\|Retinitis pigmentosa [RCV000132695]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	8	10612126	10612126	Human	4	name
152045953	CV1670362	single nucleotide variant	NM_178857.6(RP1L1):c.2380G>T (p.Glu794Ter)	Retinitis pigmentosa 88 [RCV002225214]	likely pathogenic	8	10611718	10611718	Human	1	name
152981801	CV1677093	single nucleotide variant	NM_178857.6(RP1L1):c.2140C>T (p.Gln714Ter)	not specified [RCV002248162]	uncertain significance	8	10611958	10611958	Human		name
152981802	CV1677094	single nucleotide variant	NM_178857.6(RP1L1):c.1231C>T (p.Pro411Ser)	Inborn genetic diseases [RCV004958500]\|not specified [RCV002248163]	uncertain significance	8	10612867	10612867	Human	1	name
153347242	CV1691987	single nucleotide variant	NM_178857.6(RP1L1):c.1043C>T (p.Ala348Val)	Inborn genetic diseases [RCV004047490]\|not provided [RCV002273472]	uncertain significance	8	10613055	10613055	Human	1	name
153349763	CV1693934	single nucleotide variant	NM_178857.6(RP1L1):c.1810G>A (p.Ala604Thr)	not provided [RCV002276182]	uncertain significance	8	10612288	10612288	Human		name
155641760	CV1706037	single nucleotide variant	NM_178857.6(RP1L1):c.1072G>T (p.Val358Phe)	not provided [RCV002286899]	uncertain significance	8	10613026	10613026	Human		name
8556688	CV17233	single nucleotide variant	NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg)	Occult macular dystrophy [RCV000002278]\|Retinal dystrophy [RCV001075327]\|not provided [RCV000998992]	pathogenic\|uncertain significance	8	10611220	10611220	Human	4	name
155978336	CV2215012	single nucleotide variant	NM_178857.6(RP1L1):c.1880C>A (p.Thr627Asn)	Inborn genetic diseases [RCV002688129]	uncertain significance	8	10612218	10612218	Human	1	name
156328808	CV2216273	single nucleotide variant	NM_178857.6(RP1L1):c.1000G>A (p.Glu334Lys)	Inborn genetic diseases [RCV002717741]	uncertain significance	8	10613098	10613098	Human	1	name
156332701	CV2220726	single nucleotide variant	NM_178857.6(RP1L1):c.1190G>A (p.Arg397Gln)	Inborn genetic diseases [RCV002718189]	likely benign	8	10612908	10612908	Human	1	name
156343555	CV2232798	single nucleotide variant	NM_178857.6(RP1L1):c.1732G>T (p.Ala578Ser)	Inborn genetic diseases [RCV002719423]	uncertain significance	8	10612366	10612366	Human	1	name
155917478	CV2236562	single nucleotide variant	NM_178857.6(RP1L1):c.2063G>A (p.Arg688Lys)	Inborn genetic diseases [RCV002772507]	uncertain significance	8	10612035	10612035	Human	1	name
156129544	CV2238544	single nucleotide variant	NM_178857.6(RP1L1):c.2136G>C (p.Arg712Ser)	Inborn genetic diseases [RCV002762842]	uncertain significance	8	10611962	10611962	Human	1	name
156048163	CV2245035	single nucleotide variant	NM_178857.6(RP1L1):c.2321C>G (p.Ala774Gly)	Inborn genetic diseases [RCV002781861]	uncertain significance	8	10611777	10611777	Human	1	name
156142476	CV2257335	single nucleotide variant	NM_178857.6(RP1L1):c.1072G>C (p.Val358Leu)	Inborn genetic diseases [RCV002826286]	uncertain significance	8	10613026	10613026	Human	1	name
156070812	CV2267189	single nucleotide variant	NM_178857.6(RP1L1):c.1088A>T (p.Asp363Val)	Inborn genetic diseases [RCV002823436]	uncertain significance	8	10613010	10613010	Human	1	name
12907375	CV227315	deletion	NM_178857.6(RP1L1):c.6063del (p.Asp2021fs)	Occult macular dystrophy [RCV000490383]\|Retinal dystrophy [RCV003888646]	uncertain significance	8	10608035	10608035	Human	4	name
155907448	CV2276404	single nucleotide variant	NM_178857.6(RP1L1):c.2932G>A (p.Glu978Lys)	Inborn genetic diseases [RCV002837448]	uncertain significance	8	10611166	10611166	Human	1	name
156275859	CV2276652	single nucleotide variant	NM_178857.6(RP1L1):c.1879A>G (p.Thr627Ala)	Inborn genetic diseases [RCV002832600]	uncertain significance	8	10612219	10612219	Human	1	name
156257121	CV2277633	single nucleotide variant	NM_178857.6(RP1L1):c.2155C>A (p.Leu719Met)	Inborn genetic diseases [RCV002855182]	uncertain significance	8	10611943	10611943	Human	1	name
156174174	CV2290244	single nucleotide variant	NM_178857.6(RP1L1):c.2792G>A (p.Gly931Glu)	Inborn genetic diseases [RCV002891576]	uncertain significance	8	10611306	10611306	Human	1	name
155940924	CV2294163	single nucleotide variant	NM_178857.6(RP1L1):c.1373G>T (p.Ser458Ile)	Inborn genetic diseases [RCV002879635]	uncertain significance	8	10612725	10612725	Human	1	name
156040133	CV2310771	single nucleotide variant	NM_178857.6(RP1L1):c.1427C>T (p.Pro476Leu)	Inborn genetic diseases [RCV002910561]	likely benign	8	10612671	10612671	Human	1	name
156162780	CV2319573	single nucleotide variant	NM_178857.6(RP1L1):c.1654C>G (p.Pro552Ala)	Inborn genetic diseases [RCV002955366]	uncertain significance	8	10612444	10612444	Human	1	name
156354598	CV2324310	single nucleotide variant	NM_178857.6(RP1L1):c.2293G>T (p.Asp765Tyr)	Inborn genetic diseases [RCV002940406]\|Retinal dystrophy [RCV003889274]	uncertain significance	8	10611805	10611805	Human	3	name
156361242	CV2326437	single nucleotide variant	NM_178857.6(RP1L1):c.2294A>G (p.Asp765Gly)	Inborn genetic diseases [RCV002941376]	uncertain significance	8	10611804	10611804	Human	1	name
156358911	CV2328106	single nucleotide variant	NM_178857.6(RP1L1):c.2866G>A (p.Val956Met)	Inborn genetic diseases [RCV002941040]	uncertain significance	8	10611232	10611232	Human	1	name
155965443	CV2330573	single nucleotide variant	NM_178857.6(RP1L1):c.2171C>T (p.Ser724Leu)	Inborn genetic diseases [RCV002945307]	likely benign	8	10611927	10611927	Human	1	name
156015176	CV2360233	single nucleotide variant	NM_178857.6(RP1L1):c.2374C>G (p.Leu792Val)	Inborn genetic diseases [RCV002998194]\|not provided [RCV003229114]	uncertain significance	8	10611724	10611724	Human	1	name
155937816	CV2364917	single nucleotide variant	NM_178857.6(RP1L1):c.2729G>C (p.Arg910Thr)	Inborn genetic diseases [RCV002685147]	uncertain significance	8	10611369	10611369	Human	1	name
156345193	CV2372885	single nucleotide variant	NM_178857.6(RP1L1):c.2252G>A (p.Gly751Glu)	Inborn genetic diseases [RCV002674935]	uncertain significance	8	10611846	10611846	Human	1	name
155997718	CV2373208	single nucleotide variant	NM_178857.6(RP1L1):c.1576C>T (p.Arg526Trp)	Inborn genetic diseases [RCV002689773]	uncertain significance	8	10612522	10612522	Human	1	name
155937391	CV2373574	single nucleotide variant	NM_178857.6(RP1L1):c.2993A>G (p.His998Arg)	Inborn genetic diseases [RCV002729677]	uncertain significance	8	10611105	10611105	Human	1	name
156184562	CV2377735	single nucleotide variant	NM_178857.6(RP1L1):c.1420A>G (p.Arg474Gly)	Inborn genetic diseases [RCV002699582]	uncertain significance	8	10612678	10612678	Human	1	name
155991869	CV2379252	single nucleotide variant	NM_178857.6(RP1L1):c.1330G>A (p.Gly444Arg)	Inborn genetic diseases [RCV002689283]	uncertain significance	8	10612768	10612768	Human	1	name
156270337	CV2379499	single nucleotide variant	NM_178857.6(RP1L1):c.2858C>T (p.Pro953Leu)	Inborn genetic diseases [RCV002703575]	uncertain significance	8	10611240	10611240	Human	1	name
156183228	CV2382215	single nucleotide variant	NM_178857.6(RP1L1):c.2191G>C (p.Asp731His)	Inborn genetic diseases [RCV002699504]	uncertain significance	8	10611907	10611907	Human	1	name
156208290	CV2382479	single nucleotide variant	NM_178857.6(RP1L1):c.2852C>T (p.Ser951Leu)	Inborn genetic diseases [RCV002743901]	uncertain significance	8	10611246	10611246	Human	1	name
156105788	CV2387039	single nucleotide variant	NM_178857.6(RP1L1):c.2612G>A (p.Gly871Glu)	Inborn genetic diseases [RCV002739387]	uncertain significance	8	10611486	10611486	Human	1	name
156005683	CV2401118	single nucleotide variant	NM_178857.6(RP1L1):c.2318C>T (p.Pro773Leu)	Inborn genetic diseases [RCV002779779]	uncertain significance	8	10611780	10611780	Human	1	name
243057959	CV2405605	duplication	NM_178857.6(RP1L1):c.4403dup (p.Ser1469fs)	not provided [RCV003133787]	likely pathogenic	8	10609694	10609695	Human		name
243057967	CV2405611	single nucleotide variant	NM_178857.6(RP1L1):c.2077C>T (p.Arg693Ter)	not provided [RCV003133789]	likely pathogenic	8	10612021	10612021	Human		name
243051147	CV2413782	single nucleotide variant	NM_178857.6(RP1L1):c.1204G>A (p.Gly402Arg)	not provided [RCV003130420]	uncertain significance	8	10612894	10612894	Human		name
243060228	CV2413783	single nucleotide variant	NM_178857.6(RP1L1):c.1069C>A (p.Pro357Thr)	not provided [RCV003135793]	uncertain significance	8	10613029	10613029	Human		name
329356098	CV2430578	single nucleotide variant	NM_178857.6(RP1L1):c.1706G>A (p.Ser569Asn)	Inborn genetic diseases [RCV003178041]	uncertain significance	8	10612392	10612392	Human	1	name
329377855	CV2436057	single nucleotide variant	NM_178857.6(RP1L1):c.2281G>A (p.Gly761Arg)	Inborn genetic diseases [RCV003174640]	uncertain significance	8	10611817	10611817	Human	1	name
329400080	CV2440535	single nucleotide variant	NM_178857.6(RP1L1):c.1376C>T (p.Thr459Ile)	Inborn genetic diseases [RCV003197087]	uncertain significance	8	10612722	10612722	Human	1	name
329365717	CV2441069	single nucleotide variant	NM_178857.6(RP1L1):c.1651C>T (p.Arg551Trp)	Inborn genetic diseases [RCV003207382]	uncertain significance	8	10612447	10612447	Human	1	name
329366643	CV2441777	single nucleotide variant	NM_178857.6(RP1L1):c.1981C>T (p.Pro661Ser)	Inborn genetic diseases [RCV003207866]	uncertain significance	8	10612117	10612117	Human	1	name
329372380	CV2443124	single nucleotide variant	NM_178857.6(RP1L1):c.2576G>A (p.Gly859Glu)	Inborn genetic diseases [RCV003184821]	uncertain significance	8	10611522	10611522	Human	1	name
329399654	CV2444084	single nucleotide variant	NM_178857.6(RP1L1):c.1195G>A (p.Gly399Arg)	Inborn genetic diseases [RCV003196797]\|RP1L1-related disorder [RCV004750874]\|Retinal dystrophy [RCV003889283]	likely benign\|uncertain significance	8	10612903	10612903	Human	4	name , alternate_id
329390991	CV2447596	single nucleotide variant	NM_178857.6(RP1L1):c.2597G>A (p.Arg866His)	Inborn genetic diseases [RCV003191895]	likely benign	8	10611501	10611501	Human	1	name
329396156	CV2451925	single nucleotide variant	NM_178857.6(RP1L1):c.2297C>T (p.Ala766Val)	Inborn genetic diseases [RCV003194818]	uncertain significance	8	10611801	10611801	Human	1	name
329352338	CV2452886	single nucleotide variant	NM_178857.6(RP1L1):c.2638A>G (p.Thr880Ala)	Inborn genetic diseases [RCV003200443]	likely benign	8	10611460	10611460	Human	1	name
329368439	CV2453274	single nucleotide variant	NM_178857.6(RP1L1):c.1221C>G (p.Ile407Met)	Inborn genetic diseases [RCV003208712]	uncertain significance	8	10612877	10612877	Human	1	name
329367451	CV2456867	single nucleotide variant	NM_178857.6(RP1L1):c.1406C>T (p.Ser469Phe)	Inborn genetic diseases [RCV003208317]	uncertain significance	8	10612692	10612692	Human	1	name
329386022	CV2458733	single nucleotide variant	NM_178857.6(RP1L1):c.1628A>T (p.Glu543Val)	Inborn genetic diseases [RCV003214629]	uncertain significance	8	10612470	10612470	Human	1	name
329369820	CV2461236	single nucleotide variant	NM_178857.6(RP1L1):c.2938A>G (p.Thr980Ala)	Inborn genetic diseases [RCV003209162]	uncertain significance	8	10611160	10611160	Human	1	name
329848669	CV2523417	single nucleotide variant	NM_178857.6(RP1L1):c.2579G>T (p.Arg860Leu)	Inborn genetic diseases [RCV004961236]\|not provided [RCV003225431]	uncertain significance	8	10611519	10611519	Human	1	name
329953995	CV2669337	single nucleotide variant	NM_178857.6(RP1L1):c.2645G>A (p.Arg882Gln)	not provided [RCV003231844]	uncertain significance	8	10611453	10611453	Human		name
401739101	CV2676436	single nucleotide variant	NM_178857.6(RP1L1):c.2074C>T (p.Arg692Trp)	Inborn genetic diseases [RCV003240321]	uncertain significance	8	10612024	10612024	Human	1	name
401758342	CV2678630	single nucleotide variant	NM_178857.6(RP1L1):c.2173G>T (p.Gly725Cys)	Inborn genetic diseases [RCV003279686]	uncertain significance	8	10611925	10611925	Human	1	name
401781420	CV2681993	single nucleotide variant	NM_178857.6(RP1L1):c.2012G>A (p.Arg671His)	Inborn genetic diseases [RCV003265221]	uncertain significance	8	10612086	10612086	Human	1	name
401734300	CV2688463	single nucleotide variant	NM_178857.6(RP1L1):c.1072G>A (p.Val358Ile)	Inborn genetic diseases [RCV003290730]\|RP1L1-related disorder [RCV004750884]	likely benign\|uncertain significance	8	10613026	10613026	Human	2	name , alternate_id
401734998	CV2688678	single nucleotide variant	NM_178857.6(RP1L1):c.1982C>T (p.Pro661Leu)	Inborn genetic diseases [RCV003290923]\|Retinal dystrophy [RCV003889289]	uncertain significance	8	10612116	10612116	Human	3	name
401775937	CV2692543	single nucleotide variant	NM_178857.6(RP1L1):c.1339A>G (p.Arg447Gly)	Inborn genetic diseases [RCV003286262]	uncertain significance	8	10612759	10612759	Human	1	name
401720161	CV2705735	single nucleotide variant	NM_178857.6(RP1L1):c.2908C>T (p.Leu970Phe)	Inborn genetic diseases [RCV003267097]	uncertain significance	8	10611190	10611190	Human	1	name
401777361	CV2730298	single nucleotide variant	NM_178857.6(RP1L1):c.2269G>A (p.Ala757Thr)	Inborn genetic diseases [RCV003306357]	uncertain significance	8	10611829	10611829	Human	1	name
401872599	CV2749667	single nucleotide variant	NM_178857.6(RP1L1):c.1022G>A (p.Arg341Gln)	Inborn genetic diseases [RCV005273667]\|not provided [RCV003332795]	uncertain significance	8	10613076	10613076	Human	1	name
401893114	CV2754988	single nucleotide variant	NM_178857.6(RP1L1):c.2121C>G (p.Ser707Arg)	Inborn genetic diseases [RCV003356062]	uncertain significance	8	10611977	10611977	Human	1	name
401890324	CV2768091	single nucleotide variant	NM_178857.6(RP1L1):c.2078G>A (p.Arg693Gln)	Inborn genetic diseases [RCV003354368]	uncertain significance	8	10612020	10612020	Human	1	name
401887207	CV2773234	single nucleotide variant	NM_178857.6(RP1L1):c.2503C>G (p.Gln835Glu)	Inborn genetic diseases [RCV003367069]	likely benign	8	10611595	10611595	Human	1	name
401873277	CV2776460	single nucleotide variant	NM_178857.6(RP1L1):c.2095G>C (p.Gly699Arg)	Inborn genetic diseases [RCV003361945]	uncertain significance	8	10612003	10612003	Human	1	name
401865759	CV2786118	single nucleotide variant	NM_178857.6(RP1L1):c.1727C>T (p.Ser576Phe)	Inborn genetic diseases [RCV003379427]	uncertain significance	8	10612371	10612371	Human	1	name
401898523	CV2787982	single nucleotide variant	NM_178857.6(RP1L1):c.1471G>A (p.Ala491Thr)	Inborn genetic diseases [RCV003376678]	uncertain significance	8	10612627	10612627	Human	1	name
401870369	CV2792354	single nucleotide variant	NM_178857.6(RP1L1):c.1652G>A (p.Arg551Gln)	Inborn genetic diseases [RCV003381204]	likely benign	8	10612446	10612446	Human	1	name
401936156	CV2802737	single nucleotide variant	NM_178857.6(RP1L1):c.2915C>T (p.Thr972Ile)	RP1L1-related disorder [RCV003414127]	uncertain significance	8	10611183	10611183	Human		name , trait , alternate_id
401934741	CV2802839	single nucleotide variant	NM_178857.6(RP1L1):c.1215T>G (p.Tyr405Ter)	RP1L1-related disorder [RCV003412168]	likely pathogenic	8	10612883	10612883	Human		name , trait , alternate_id
401923912	CV2820881	single nucleotide variant	NM_178857.6(RP1L1):c.1387G>A (p.Glu463Lys)	Inborn genetic diseases [RCV004961310]\|not provided [RCV003435449]	likely benign\|uncertain significance	8	10612711	10612711	Human	1	name
401923913	CV2820882	single nucleotide variant	NM_178857.6(RP1L1):c.1363C>A (p.Pro455Thr)	not provided [RCV003435450]	likely benign	8	10612735	10612735	Human		name
11587692	CV303865	single nucleotide variant	NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met)	Inborn genetic diseases [RCV002523615]\|Occult macular dystrophy [RCV000296972]\|RP1L1-related disorder [RCV003922615]\|not provided [RCV001572577]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	10611175	10611175	Human	3	name , alternate_id
11592460	CV303866	single nucleotide variant	NM_178857.6(RP1L1):c.2915C>G (p.Thr972Arg)	Occult macular dystrophy [RCV000338809]	uncertain significance	8	10611183	10611183	Human	2	name
11583849	CV303870	single nucleotide variant	NM_178857.6(RP1L1):c.2732G>T (p.Ser911Ile)	Occult macular dystrophy [RCV000269753]\|not provided [RCV003884510]	likely benign\|uncertain significance	8	10611366	10611366	Human	2	name
11585988	CV303890	single nucleotide variant	NM_178857.6(RP1L1):c.2028C>G (p.Ser676Arg)	Occult macular dystrophy [RCV000284551]	likely benign	8	10612070	10612070	Human	2	name
11595307	CV303896	single nucleotide variant	NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser)	Occult macular dystrophy [RCV000369318]\|Retinal dystrophy [RCV003888880]\|Retinitis pigmentosa 88 [RCV001796014]\|not provided [RCV001613208]\|not specified [RCV001528979]	benign	8	10612558	10612558	Human	5	name
11597197	CV303903	single nucleotide variant	NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln)	Occult macular dystrophy [RCV000391554]\|Occult macular dystrophy [RCV002488807]\|not provided [RCV004712473]	benign	8	10612620	10612620	Human	2	name
11587651	CV303904	single nucleotide variant	NM_178857.6(RP1L1):c.1460C>T (p.Ala487Val)	Occult macular dystrophy [RCV000296890]\|not provided [RCV004712474]	benign	8	10612638	10612638	Human	2	name
11593547	CV303907	single nucleotide variant	NM_178857.6(RP1L1):c.1067A>T (p.Asp356Val)	Inborn genetic diseases [RCV002523619]\|Occult macular dystrophy [RCV000350056]\|RP1L1-related disorder [RCV004751503]\|not provided [RCV000659098]	likely benign\|uncertain significance	8	10613031	10613031	Human	3	name , alternate_id
11603003	CV307382	single nucleotide variant	NM_178857.6(RP1L1):c.2991C>G (p.Asp997Glu)	Inborn genetic diseases [RCV004022064]\|Occult macular dystrophy [RCV000295701]	benign\|likely benign\|uncertain significance	8	10611107	10611107	Human	3	name
11608047	CV307384	single nucleotide variant	NM_178857.6(RP1L1):c.2977G>A (p.Asp993Asn)	Occult macular dystrophy [RCV000350594]	benign\|likely benign	8	10611121	10611121	Human	2	name
11603954	CV307385	single nucleotide variant	NM_178857.6(RP1L1):c.2780C>A (p.Thr927Asn)	Occult macular dystrophy [RCV000305028]\|not provided [RCV004712464]	benign	8	10611318	10611318	Human	2	name
11606233	CV307388	single nucleotide variant	NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp)	Occult macular dystrophy [RCV000329036]\|not provided [RCV000762490]\|not specified [RCV001700096]	benign\|likely benign\|uncertain significance	8	10611454	10611454	Human	2	name
11600585	CV307389	single nucleotide variant	NM_178857.6(RP1L1):c.2620G>A (p.Gly874Ser)	Occult macular dystrophy [RCV000275168]\|not provided [RCV004712465]	benign\|likely benign	8	10611478	10611478	Human	2	name
11609762	CV307391	single nucleotide variant	NM_178857.6(RP1L1):c.2441A>G (p.Glu814Gly)	Occult macular dystrophy [RCV000372315]\|RP1L1-related disorder [RCV004751501]\|Retinal dystrophy [RCV003888873]\|not provided [RCV004712466]	benign\|likely benign	8	10611657	10611657	Human	4	name , alternate_id
11611693	CV307393	single nucleotide variant	NM_178857.6(RP1L1):c.2396C>T (p.Thr799Met)	Occult macular dystrophy [RCV000398785]\|RP1L1-related disorder [RCV004751502]	benign\|likely benign	8	10611702	10611702	Human	2	name , alternate_id
11608381	CV307396	single nucleotide variant	NM_178857.6(RP1L1):c.2154C>A (p.Asn718Lys)	Occult macular dystrophy [RCV000354602]\|not provided [RCV001572827]	benign\|likely benign	8	10611944	10611944	Human	2	name
11608369	CV307415	single nucleotide variant	NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu)	Occult macular dystrophy [RCV000354140]	uncertain significance	8	10612662	10612662	Human	2	name
11599645	CV307427	single nucleotide variant	NM_178857.6(RP1L1):c.1297C>T (p.Arg433Cys)	Occult macular dystrophy [RCV000267172]\|not provided [RCV003430943]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	10612801	10612801	Human	2	name
11610437	CV307430	single nucleotide variant	NM_178857.6(RP1L1):c.1271A>G (p.Lys424Arg)	Occult macular dystrophy [RCV000381763]	uncertain significance	8	10612827	10612827	Human	2	name
11606353	CV312390	single nucleotide variant	NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp)	Occult macular dystrophy [RCV000330290]\|Retinal dystrophy [RCV003888871]\|not provided [RCV001672700]	benign	8	10611520	10611520	Human	6	name
11606353	CV312390	single nucleotide variant	NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp)	Occult macular dystrophy [RCV000330290]\|Retinal dystrophy [RCV003888871]\|not provided [RCV001672700]	benign	8	10611520	10611521	Human	6	name
11610714	CV312399	single nucleotide variant	NM_178857.6(RP1L1):c.2992C>A (p.His998Asn)	Occult macular dystrophy [RCV000385489]	uncertain significance	8	10611106	10611106	Human	2	name
11607165	CV312406	single nucleotide variant	NM_178857.6(RP1L1):c.2398C>A (p.Pro800Thr)	Occult macular dystrophy [RCV000340332]	likely benign	8	10611700	10611700	Human	2	name
11601941	CV312408	single nucleotide variant	NM_178857.6(RP1L1):c.2383G>A (p.Glu795Lys)	Occult macular dystrophy [RCV000286490]\|RP1L1-related disorder [RCV003922616]	likely benign	8	10611715	10611715	Human	2	name , alternate_id
11612333	CV312413	single nucleotide variant	NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys)	Occult macular dystrophy [RCV000407436]\|RP1L1-related disorder [RCV003902409]\|not provided [RCV000762489]\|not specified [RCV001700015]	benign\|likely benign	8	10611199	10611199	Human	2	name , alternate_id
11608666	CV312414	single nucleotide variant	NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser)	Occult macular dystrophy [RCV000358396]\|Retinal dystrophy [RCV001075518]	uncertain significance	8	10611253	10611253	Human	4	name
11609893	CV312415	single nucleotide variant	NM_178857.6(RP1L1):c.2037C>G (p.Asp679Glu)	Occult macular dystrophy [RCV000374340]	uncertain significance	8	10612061	10612061	Human	2	name
11605526	CV312416	single nucleotide variant	NM_178857.6(RP1L1):c.1870G>A (p.Ala624Thr)	Occult macular dystrophy [RCV000320927]\|not provided [RCV004597788]	benign\|likely benign	8	10612228	10612228	Human	2	name
11611750	CV312423	single nucleotide variant	NM_178857.6(RP1L1):c.1555G>A (p.Gly519Ser)	Occult macular dystrophy [RCV000399436]\|Retinal dystrophy [RCV003888878]	benign\|likely benign	8	10612543	10612543	Human	4	name
11599811	CV312427	single nucleotide variant	NM_178857.6(RP1L1):c.2791G>C (p.Gly931Arg)	Inborn genetic diseases [RCV002523616]\|Occult macular dystrophy [RCV000268558]\|RP1L1-related disorder [RCV003902410]	benign\|uncertain significance	8	10611307	10611307	Human	3	name , alternate_id
11605551	CV312433	single nucleotide variant	NM_178857.6(RP1L1):c.1340G>C (p.Arg447Thr)	Occult macular dystrophy [RCV000321240]	uncertain significance	8	10612758	10612758	Human	2	name
11601217	CV312435	single nucleotide variant	NM_178857.6(RP1L1):c.2413C>G (p.Pro805Ala)	Occult macular dystrophy [RCV000280627]	uncertain significance	8	10611685	10611685	Human	2	name
11607243	CV312440	single nucleotide variant	NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro)	Occult macular dystrophy [RCV000341291]\|Retinal dystrophy [RCV003888874]\|Retinitis pigmentosa 88 [RCV001796012]\|not provided [RCV004712467]\|not specified [RCV001529863]	benign	8	10611723	10611723	Human	7	name
11607243	CV312440	single nucleotide variant	NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro)	Occult macular dystrophy [RCV000341291]\|Retinal dystrophy [RCV003888874]\|Retinitis pigmentosa 88 [RCV001796012]\|not provided [RCV004712467]\|not specified [RCV001529863]	benign	8	10611723	10611724	Human	7	name
11611756	CV312441	single nucleotide variant	NM_178857.6(RP1L1):c.2365G>A (p.Ala789Thr)	Inborn genetic diseases [RCV004659015]\|Occult macular dystrophy [RCV000399539]\|RP1L1-related disorder [RCV003957851]	benign\|likely benign\|uncertain significance	8	10611733	10611733	Human	3	name , alternate_id
11606157	CV312445	single nucleotide variant	NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg)	Occult macular dystrophy [RCV000328391]\|RP1L1-related disorder [RCV003922617]\|Retinal dystrophy [RCV004816618]\|not provided [RCV000659097]	benign\|likely benign\|uncertain significance	8	10612960	10612960	Human	4	name , alternate_id
11610691	CV312446	single nucleotide variant	NM_178857.6(RP1L1):c.1128C>G (p.Phe376Leu)	Occult macular dystrophy [RCV000385230]\|not provided [RCV002512094]	benign\|likely benign	8	10612970	10612970	Human	2	name
11602665	CV312447	single nucleotide variant	NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala)	Inborn genetic diseases [RCV002523618]\|Occult macular dystrophy [RCV000292749]\|not provided [RCV002472996]	likely benign\|uncertain significance	8	10613008	10613008	Human	3	name
11610926	CV312448	single nucleotide variant	NM_178857.6(RP1L1):c.1007C>T (p.Thr336Met)	Inborn genetic diseases [RCV004659016]\|Occult macular dystrophy [RCV000388280]	likely benign\|uncertain significance	8	10613091	10613091	Human	3	name
11604759	CV312450	single nucleotide variant	NM_178857.6(RP1L1):c.2191G>A (p.Asp731Asn)	Occult macular dystrophy [RCV000312461]	benign\|uncertain significance	8	10611907	10611907	Human	2	name
11609334	CV312452	single nucleotide variant	NM_178857.6(RP1L1):c.2174G>T (p.Gly725Val)	Inborn genetic diseases [RCV002524537]\|Occult macular dystrophy [RCV000367102]	benign\|likely benign\|uncertain significance	8	10611924	10611924	Human	3	name
11610380	CV312457	single nucleotide variant	NM_178857.6(RP1L1):c.1862C>G (p.Ser621Trp)	Occult macular dystrophy [RCV000380236]	uncertain significance	8	10612236	10612236	Human	2	name
11600062	CV312484	single nucleotide variant	NM_178857.6(RP1L1):c.1268G>C (p.Arg423Pro)	Inborn genetic diseases [RCV002523617]\|Occult macular dystrophy [RCV000270861]\|not provided [RCV001355517]	likely benign\|uncertain significance	8	10612830	10612830	Human	3	name
405260804	CV3185922	single nucleotide variant	NM_178857.6(RP1L1):c.2585G>T (p.Cys862Phe)	not provided [RCV003884998]	uncertain significance	8	10611513	10611513	Human		name
405259860	CV3186451	single nucleotide variant	NM_178857.6(RP1L1):c.2369C>T (p.Ala790Val)	not provided [RCV003884210]	uncertain significance	8	10611729	10611729	Human		name
405264855	CV3188274	deletion	NM_178857.6(RP1L1):c.5284del (p.Glu1762fs)	Retinal dystrophy [RCV003891222]	uncertain significance	8	10608814	10608814	Human	2	name
405262778	CV3188322	single nucleotide variant	NM_178857.6(RP1L1):c.2981C>G (p.Pro994Arg)	Retinal dystrophy [RCV003889386]	uncertain significance	8	10611117	10611117	Human	2	name
405262779	CV3188323	single nucleotide variant	NM_178857.6(RP1L1):c.2887A>C (p.Asn963His)	Retinal dystrophy [RCV003889387]	uncertain significance	8	10611211	10611211	Human	2	name
405262784	CV3188325	single nucleotide variant	NM_178857.6(RP1L1):c.2869G>T (p.Val957Phe)	Retinal dystrophy [RCV003889389]	uncertain significance	8	10611229	10611229	Human	2	name
405262789	CV3188327	single nucleotide variant	NM_178857.6(RP1L1):c.2624G>A (p.Ser875Asn)	Retinal dystrophy [RCV003889391]	uncertain significance	8	10611474	10611474	Human	2	name
405262790	CV3188328	single nucleotide variant	NM_178857.6(RP1L1):c.2596C>T (p.Arg866Cys)	Retinal dystrophy [RCV003889392]	uncertain significance	8	10611502	10611502	Human	2	name
405262793	CV3188329	single nucleotide variant	NM_178857.6(RP1L1):c.2588C>A (p.Pro863His)	Retinal dystrophy [RCV003889393]	uncertain significance	8	10611510	10611510	Human	2	name
405262795	CV3188330	single nucleotide variant	NM_178857.6(RP1L1):c.2567C>T (p.Pro856Leu)	Retinal dystrophy [RCV003889394]	uncertain significance	8	10611531	10611531	Human	2	name
405262796	CV3188331	single nucleotide variant	NM_178857.6(RP1L1):c.2564C>A (p.Thr855Asn)	Retinal dystrophy [RCV003889395]	uncertain significance	8	10611534	10611534	Human	2	name
405262800	CV3188333	single nucleotide variant	NM_178857.6(RP1L1):c.2450C>T (p.Ala817Val)	Retinal dystrophy [RCV003889397]	uncertain significance	8	10611648	10611648	Human	2	name
405262802	CV3188334	single nucleotide variant	NM_178857.6(RP1L1):c.2326A>G (p.Ile776Val)	Retinal dystrophy [RCV003889398]	uncertain significance	8	10611772	10611772	Human	2	name
405262805	CV3188336	single nucleotide variant	NM_178857.6(RP1L1):c.2239G>A (p.Asp747Asn)	Retinal dystrophy [RCV003889400]	uncertain significance	8	10611859	10611859	Human	2	name
405262806	CV3188337	single nucleotide variant	NM_178857.6(RP1L1):c.2237C>T (p.Ser746Leu)	Inborn genetic diseases [RCV004953638]\|Retinal dystrophy [RCV003889401]	uncertain significance	8	10611861	10611861	Human	3	name
405262807	CV3188338	single nucleotide variant	NM_178857.6(RP1L1):c.2026A>T (p.Ser676Cys)	Retinal dystrophy [RCV003889402]	likely benign	8	10612072	10612072	Human	2	name
405262809	CV3188339	single nucleotide variant	NM_178857.6(RP1L1):c.1883C>A (p.Pro628His)	Retinal dystrophy [RCV003889403]	uncertain significance	8	10612215	10612215	Human	2	name
405262812	CV3188341	single nucleotide variant	NM_178857.6(RP1L1):c.1857G>C (p.Trp619Cys)	Retinal dystrophy [RCV003889405]	uncertain significance	8	10612241	10612241	Human	2	name
405262817	CV3188344	single nucleotide variant	NM_178857.6(RP1L1):c.1778C>T (p.Thr593Met)	Inborn genetic diseases [RCV004953639]\|Retinal dystrophy [RCV003889408]	likely benign\|uncertain significance	8	10612320	10612320	Human	3	name
405262776	CV3188345	single nucleotide variant	NM_178857.6(RP1L1):c.1766T>C (p.Leu589Pro)	Retinal dystrophy [RCV003889409]	uncertain significance	8	10612332	10612332	Human	2	name
405262826	CV3188347	single nucleotide variant	NM_178857.6(RP1L1):c.1618G>A (p.Gly540Ser)	Retinal dystrophy [RCV003889411]	uncertain significance	8	10612480	10612480	Human	2	name
405262833	CV3188348	single nucleotide variant	NM_178857.6(RP1L1):c.1501G>T (p.Glu501Ter)	Retinal dystrophy [RCV003889412]	uncertain significance	8	10612597	10612597	Human	2	name
405262781	CV3188350	single nucleotide variant	NM_178857.6(RP1L1):c.1484C>G (p.Ala495Gly)	Retinal dystrophy [RCV003889414]	uncertain significance	8	10612614	10612614	Human	2	name
405262783	CV3188351	single nucleotide variant	NM_178857.6(RP1L1):c.1381C>G (p.Leu461Val)	Retinal dystrophy [RCV003889415]	uncertain significance	8	10612717	10612717	Human	2	name
405262871	CV3188353	single nucleotide variant	NM_178857.6(RP1L1):c.1305T>G (p.Ser435Arg)	Retinal dystrophy [RCV003889417]	uncertain significance	8	10612793	10612793	Human	2	name
405262786	CV3188354	single nucleotide variant	NM_178857.6(RP1L1):c.1301G>T (p.Cys434Phe)	Retinal dystrophy [RCV003889418]	uncertain significance	8	10612797	10612797	Human	2	name
405262788	CV3188355	single nucleotide variant	NM_178857.6(RP1L1):c.1288C>T (p.Gln430Ter)	Retinal dystrophy [RCV003889419]	likely pathogenic	8	10612810	10612810	Human	2	name
405262966	CV3188356	single nucleotide variant	NM_178857.6(RP1L1):c.1286C>A (p.Ala429Asp)	Retinal dystrophy [RCV003889420]	uncertain significance	8	10612812	10612812	Human	2	name
405262916	CV3188357	single nucleotide variant	NM_178857.6(RP1L1):c.1118C>T (p.Pro373Leu)	Retinal dystrophy [RCV003889421]	uncertain significance	8	10612980	10612980	Human	2	name
405262791	CV3188358	single nucleotide variant	NM_178857.6(RP1L1):c.1112G>T (p.Gly371Val)	Retinal dystrophy [RCV003889422]	likely benign	8	10612986	10612986	Human	2	name
405262931	CV3188360	single nucleotide variant	NM_178857.6(RP1L1):c.1058G>C (p.Ser353Thr)	Retinal dystrophy [RCV003889424]	likely benign	8	10613040	10613040	Human	2	name
405719362	CV3309857	single nucleotide variant	NM_178857.6(RP1L1):c.1057A>G (p.Ser353Gly)	Inborn genetic diseases [RCV004449605]	uncertain significance	8	10613041	10613041	Human	1	name
405719380	CV3309859	single nucleotide variant	NM_178857.6(RP1L1):c.1075C>G (p.Leu359Val)	Inborn genetic diseases [RCV004449607]	uncertain significance	8	10613023	10613023	Human	1	name
405719384	CV3309860	single nucleotide variant	NM_178857.6(RP1L1):c.1268G>A (p.Arg423Gln)	Inborn genetic diseases [RCV004449608]\|Occult macular dystrophy [RCV005392784]	uncertain significance	8	10612830	10612830	Human	3	name
405719394	CV3309861	single nucleotide variant	NM_178857.6(RP1L1):c.1358C>T (p.Ala453Val)	Inborn genetic diseases [RCV004449609]	uncertain significance	8	10612740	10612740	Human	1	name
405719401	CV3309862	single nucleotide variant	NM_178857.6(RP1L1):c.1388A>C (p.Glu463Ala)	Inborn genetic diseases [RCV004449610]	uncertain significance	8	10612710	10612710	Human	1	name
405719408	CV3309863	single nucleotide variant	NM_178857.6(RP1L1):c.1448C>T (p.Ala483Val)	Inborn genetic diseases [RCV004449611]	uncertain significance	8	10612650	10612650	Human	1	name
405719422	CV3309865	single nucleotide variant	NM_178857.6(RP1L1):c.1805C>T (p.Thr602Met)	Inborn genetic diseases [RCV004449613]	uncertain significance	8	10612293	10612293	Human	1	name
405719432	CV3309866	single nucleotide variant	NM_178857.6(RP1L1):c.1807G>A (p.Gly603Arg)	Inborn genetic diseases [RCV004449614]	uncertain significance	8	10612291	10612291	Human	1	name
405719442	CV3309867	single nucleotide variant	NM_178857.6(RP1L1):c.1865A>T (p.Glu622Val)	Inborn genetic diseases [RCV004449615]	uncertain significance	8	10612233	10612233	Human	1	name
405719449	CV3309868	single nucleotide variant	NM_178857.6(RP1L1):c.1873T>C (p.Ser625Pro)	Inborn genetic diseases [RCV004449616]	uncertain significance	8	10612225	10612225	Human	1	name
405719456	CV3309869	single nucleotide variant	NM_178857.6(RP1L1):c.1933G>T (p.Ala645Ser)	Inborn genetic diseases [RCV004449617]	uncertain significance	8	10612165	10612165	Human	1	name
405719467	CV3309870	single nucleotide variant	NM_178857.6(RP1L1):c.2011C>T (p.Arg671Cys)	Inborn genetic diseases [RCV004449618]\|Occult macular dystrophy [RCV005392785]	likely benign\|uncertain significance	8	10612087	10612087	Human	3	name
405719477	CV3309871	single nucleotide variant	NM_178857.6(RP1L1):c.2012G>T (p.Arg671Leu)	Inborn genetic diseases [RCV004449619]	uncertain significance	8	10612086	10612086	Human	1	name
405719483	CV3309872	single nucleotide variant	NM_178857.6(RP1L1):c.2075G>A (p.Arg692Gln)	Inborn genetic diseases [RCV004449620]	uncertain significance	8	10612023	10612023	Human	1	name
405719495	CV3309874	single nucleotide variant	NM_178857.6(RP1L1):c.2321C>T (p.Ala774Val)	Inborn genetic diseases [RCV004449622]	uncertain significance	8	10611777	10611777	Human	1	name
405719509	CV3309876	single nucleotide variant	NM_178857.6(RP1L1):c.2515C>T (p.Arg839Trp)	Inborn genetic diseases [RCV004449624]	likely benign	8	10611583	10611583	Human	1	name
405719518	CV3309877	single nucleotide variant	NM_178857.6(RP1L1):c.2561C>T (p.Pro854Leu)	Inborn genetic diseases [RCV004449625]	uncertain significance	8	10611537	10611537	Human	1	name
405719529	CV3309878	single nucleotide variant	NM_178857.6(RP1L1):c.2790T>G (p.Ser930Arg)	Inborn genetic diseases [RCV004449626]	uncertain significance	8	10611308	10611308	Human	1	name
405719534	CV3309879	single nucleotide variant	NM_178857.6(RP1L1):c.2800C>T (p.Pro934Ser)	Inborn genetic diseases [RCV004449627]	uncertain significance	8	10611298	10611298	Human	1	name
405719541	CV3309880	single nucleotide variant	NM_178857.6(RP1L1):c.2806G>T (p.Gly936Trp)	Inborn genetic diseases [RCV004449628]\|not provided [RCV004598315]	likely benign\|uncertain significance	8	10611292	10611292	Human	1	name
405719548	CV3309881	single nucleotide variant	NM_178857.6(RP1L1):c.2930A>G (p.Asp977Gly)	Inborn genetic diseases [RCV004449629]	uncertain significance	8	10611168	10611168	Human	1	name
596939411	CV3407865	single nucleotide variant	NM_178857.6(RP1L1):c.1825G>T (p.Glu609Ter)	Retinal dystrophy [RCV004814325]	uncertain significance	8	10612273	10612273	Human	2	name
596941541	CV3408236	single nucleotide variant	NM_178857.6(RP1L1):c.1049C>A (p.Thr350Lys)	Inborn genetic diseases [RCV004953683]\|Retinal dystrophy [RCV004815907]	uncertain significance	8	10613049	10613049	Human	3	name
596941810	CV3408281	single nucleotide variant	NM_178857.6(RP1L1):c.2180T>G (p.Leu727Arg)	Retinal dystrophy [RCV004815952]	uncertain significance	8	10611918	10611918	Human	2	name
596941832	CV3408336	single nucleotide variant	NM_178857.6(RP1L1):c.2677C>T (p.Arg893Cys)	Retinal dystrophy [RCV004816007]	uncertain significance	8	10611421	10611421	Human	2	name
407425332	CV3411200	single nucleotide variant	NM_178857.6(RP1L1):c.2332C>T (p.Pro778Ser)	not provided [RCV004588891]	uncertain significance	8	10611766	10611766	Human		name
407427370	CV3411871	single nucleotide variant	NM_178857.6(RP1L1):c.2065C>T (p.Pro689Ser)	not provided [RCV004592042]	uncertain significance	8	10612033	10612033	Human		name
407487359	CV3476008	single nucleotide variant	NM_178857.6(RP1L1):c.1211A>C (p.Lys404Thr)	Inborn genetic diseases [RCV004665659]	uncertain significance	8	10612887	10612887	Human	1	name
407487272	CV3479921	single nucleotide variant	NM_178857.6(RP1L1):c.1165G>A (p.Val389Met)	Inborn genetic diseases [RCV004665636]	uncertain significance	8	10612933	10612933	Human	1	name
407487280	CV3479924	single nucleotide variant	NM_178857.6(RP1L1):c.1294G>A (p.Val432Ile)	Inborn genetic diseases [RCV004665639]\|not provided [RCV005256982]	uncertain significance	8	10612804	10612804	Human	1	name
407487287	CV3479927	single nucleotide variant	NM_178857.6(RP1L1):c.1684G>A (p.Glu562Lys)	Inborn genetic diseases [RCV004665641]	uncertain significance	8	10612414	10612414	Human	1	name
407513620	CV3479930	single nucleotide variant	NM_178857.6(RP1L1):c.2279C>T (p.Ala760Val)	Inborn genetic diseases [RCV004674181]	likely benign	8	10611819	10611819	Human	1	name
407487306	CV3479935	single nucleotide variant	NM_178857.6(RP1L1):c.2579G>A (p.Arg860Gln)	Inborn genetic diseases [RCV004665646]	likely benign	8	10611519	10611519	Human	1	name
407487309	CV3479936	single nucleotide variant	NM_178857.6(RP1L1):c.1633T>G (p.Ser545Ala)	Inborn genetic diseases [RCV004665647]	uncertain significance	8	10612465	10612465	Human	1	name
407487339	CV3479947	single nucleotide variant	NM_178857.6(RP1L1):c.1441G>A (p.Asp481Asn)	Inborn genetic diseases [RCV004665655]	uncertain significance	8	10612657	10612657	Human	1	name
408377620	CV3510028	single nucleotide variant	NM_178857.6(RP1L1):c.2348C>T (p.Ser783Phe)	Inborn genetic diseases [RCV004953717]\|RP1L1-related disorder [RCV004751120]	uncertain significance	8	10611750	10611750	Human	2	name , alternate_id
408378622	CV3514668	single nucleotide variant	NM_178857.6(RP1L1):c.1270A>T (p.Lys424Ter)	RP1L1-related disorder [RCV004752358]\|Retinitis pigmentosa [RCV005419779]	likely pathogenic	8	10612828	10612828	Human	3	name , alternate_id
597719279	CV3587013	single nucleotide variant	NM_178857.6(RP1L1):c.1321G>A (p.Gly441Arg)	Inborn genetic diseases [RCV004960303]	uncertain significance	8	10612777	10612777	Human	1	name
597719478	CV3587021	single nucleotide variant	NM_178857.6(RP1L1):c.1874C>A (p.Ser625Tyr)	Inborn genetic diseases [RCV004960310]	uncertain significance	8	10612224	10612224	Human	1	name
597719487	CV3587022	single nucleotide variant	NM_178857.6(RP1L1):c.2462A>G (p.His821Arg)	Inborn genetic diseases [RCV004960311]	uncertain significance	8	10611636	10611636	Human	1	name
597719495	CV3587024	single nucleotide variant	NM_178857.6(RP1L1):c.2323C>G (p.Pro775Ala)	Inborn genetic diseases [RCV004960312]	uncertain significance	8	10611775	10611775	Human	1	name
597719535	CV3587030	single nucleotide variant	NM_178857.6(RP1L1):c.1507C>T (p.Pro503Ser)	Inborn genetic diseases [RCV004960317]	uncertain significance	8	10612591	10612591	Human	1	name
597719541	CV3587031	single nucleotide variant	NM_178857.6(RP1L1):c.1973G>T (p.Arg658Leu)	Inborn genetic diseases [RCV004960318]	uncertain significance	8	10612125	10612125	Human	1	name
597719578	CV3587038	single nucleotide variant	NM_178857.6(RP1L1):c.2437C>A (p.Pro813Thr)	Inborn genetic diseases [RCV004960324]	uncertain significance	8	10611661	10611661	Human	1	name
597719624	CV3587046	single nucleotide variant	NM_178857.6(RP1L1):c.1322G>A (p.Gly441Glu)	Inborn genetic diseases [RCV004960331]	uncertain significance	8	10612776	10612776	Human	1	name
597719637	CV3587048	single nucleotide variant	NM_178857.6(RP1L1):c.1430A>G (p.Glu477Gly)	Inborn genetic diseases [RCV004960333]	uncertain significance	8	10612668	10612668	Human	1	name
597719647	CV3587050	single nucleotide variant	NM_178857.6(RP1L1):c.1045C>G (p.Leu349Val)	Inborn genetic diseases [RCV004960335]	uncertain significance	8	10613053	10613053	Human	1	name
597719680	CV3587055	single nucleotide variant	NM_178857.6(RP1L1):c.2768C>T (p.Ser923Phe)	Inborn genetic diseases [RCV004960339]	likely benign	8	10611330	10611330	Human	1	name
597719723	CV3587061	single nucleotide variant	NM_178857.6(RP1L1):c.2885A>T (p.Asp962Val)	Inborn genetic diseases [RCV004960345]	uncertain significance	8	10611213	10611213	Human	1	name
597720284	CV3587072	single nucleotide variant	NM_178857.6(RP1L1):c.2603C>A (p.Ser868Tyr)	Inborn genetic diseases [RCV004960354]	uncertain significance	8	10611495	10611495	Human	1	name
597720260	CV3587077	single nucleotide variant	NM_178857.6(RP1L1):c.1825G>A (p.Glu609Lys)	Inborn genetic diseases [RCV004960358]	uncertain significance	8	10612273	10612273	Human	1	name
597726586	CV3587087	single nucleotide variant	NM_178857.6(RP1L1):c.1148G>T (p.Gly383Val)	Inborn genetic diseases [RCV004962324]	uncertain significance	8	10612950	10612950	Human	1	name
12742968	CV361319	single nucleotide variant	NM_178857.6(RP1L1):c.2456G>C (p.Gly819Ala)	Occult macular dystrophy [RCV001160454]\|not provided [RCV000415818]	likely benign\|uncertain significance	8	10611642	10611642	Human	2	name
598125548	CV3881709	single nucleotide variant	NM_178857.6(RP1L1):c.2116G>T (p.Gly706Ter)	Occult macular dystrophy [RCV005232597]	pathogenic	8	10611982	10611982	Human	2	name
598222948	CV3892232	single nucleotide variant	NM_178857.6(RP1L1):c.2123C>A (p.Ser708Ter)	Retinitis pigmentosa 88 [RCV005253571]	likely pathogenic	8	10611975	10611975	Human	1	name
598219436	CV3906176	single nucleotide variant	NM_178857.6(RP1L1):c.2326A>T (p.Ile776Leu)	Inborn genetic diseases [RCV005272159]	uncertain significance	8	10611772	10611772	Human	1	name
598219414	CV3906180	single nucleotide variant	NM_178857.6(RP1L1):c.2048C>T (p.Thr683Ile)	Inborn genetic diseases [RCV005272163]	uncertain significance	8	10612050	10612050	Human	1	name
598219385	CV3906185	single nucleotide variant	NM_178857.6(RP1L1):c.2889C>A (p.Asn963Lys)	Inborn genetic diseases [RCV005272168]	uncertain significance	8	10611209	10611209	Human	1	name
598219379	CV3906186	single nucleotide variant	NM_178857.6(RP1L1):c.1931G>A (p.Arg644Gln)	Inborn genetic diseases [RCV005272169]	uncertain significance	8	10612167	10612167	Human	1	name
598219370	CV3906188	single nucleotide variant	NM_178857.6(RP1L1):c.1602C>G (p.Asp534Glu)	Inborn genetic diseases [RCV005272171]	uncertain significance	8	10612496	10612496	Human	1	name
598217950	CV3906190	single nucleotide variant	NM_178857.6(RP1L1):c.2678G>A (p.Arg893His)	Inborn genetic diseases [RCV005272173]	likely benign	8	10611420	10611420	Human	1	name
598217953	CV3906191	single nucleotide variant	NM_178857.6(RP1L1):c.2450C>A (p.Ala817Glu)	Inborn genetic diseases [RCV005272174]	uncertain significance	8	10611648	10611648	Human	1	name
598219364	CV3906196	single nucleotide variant	NM_178857.6(RP1L1):c.1517G>A (p.Cys506Tyr)	Inborn genetic diseases [RCV005272179]	uncertain significance	8	10612581	10612581	Human	1	name
598219327	CV3906202	single nucleotide variant	NM_178857.6(RP1L1):c.1493G>T (p.Ser498Ile)	Inborn genetic diseases [RCV005272185]	uncertain significance	8	10612605	10612605	Human	1	name
598218011	CV3906212	single nucleotide variant	NM_178857.6(RP1L1):c.2300G>T (p.Gly767Val)	Inborn genetic diseases [RCV005272195]	uncertain significance	8	10611798	10611798	Human	1	name
598218033	CV3906216	single nucleotide variant	NM_178857.6(RP1L1):c.1921C>T (p.His641Tyr)	Inborn genetic diseases [RCV005272199]	uncertain significance	8	10612177	10612177	Human	1	name
598218042	CV3906218	single nucleotide variant	NM_178857.6(RP1L1):c.1942A>G (p.Met648Val)	Inborn genetic diseases [RCV005272201]	likely benign	8	10612156	10612156	Human	1	name
598218052	CV3906220	single nucleotide variant	NM_178857.6(RP1L1):c.1438G>A (p.Val480Met)	Inborn genetic diseases [RCV005272203]	uncertain significance	8	10612660	10612660	Human	1	name
598176903	CV4008207	single nucleotide variant	NM_178857.6(RP1L1):c.2693C>A (p.Thr898Lys)	Occult macular dystrophy [RCV005393723]	uncertain significance	8	10611405	10611405	Human	2	name
12905448	CV413767	single nucleotide variant	NM_178857.6(RP1L1):c.2849G>A (p.Arg950His)	Occult macular dystrophy [RCV001161997]\|not provided [RCV000487497]	benign\|uncertain significance	8	10611249	10611249	Human	2	name
12905723	CV413768	single nucleotide variant	NM_178857.6(RP1L1):c.1682C>A (p.Ala561Asp)	not provided [RCV000487901]	uncertain significance	8	10612416	10612416	Human		name
13445872	CV438378	single nucleotide variant	NM_178857.6(RP1L1):c.2129G>A (p.Ser710Asn)	not provided [RCV000512964]	uncertain significance	8	10611969	10611969	Human		name
13519368	CV486434	single nucleotide variant	NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr)	Occult macular dystrophy [RCV001162179]\|Retinal dystrophy [RCV001075146]\|not provided [RCV000585607]	benign\|uncertain significance	8	10612336	10612336	Human	4	name
13518758	CV486435	single nucleotide variant	NM_178857.6(RP1L1):c.1378G>A (p.Gly460Ser)	Inborn genetic diseases [RCV002530866]\|Occult macular dystrophy [RCV001159303]\|not provided [RCV000585081]	likely benign\|uncertain significance	8	10612720	10612720	Human	3	name
13518951	CV486436	single nucleotide variant	NM_178857.6(RP1L1):c.1106G>T (p.Trp369Leu)	not provided [RCV000585249]	likely benign	8	10612992	10612992	Human		name
14396198	CV611688	single nucleotide variant	NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter)	not provided [RCV000760938]	likely pathogenic	8	10612549	10612549	Human		name
14397284	CV612800	single nucleotide variant	NM_178857.6(RP1L1):c.2068C>G (p.Pro690Ala)	Occult macular dystrophy [RCV001159204]\|not provided [RCV000762493]	likely benign\|uncertain significance	8	10612030	10612030	Human	2	name
14397285	CV612801	single nucleotide variant	NM_178857.6(RP1L1):c.1958G>A (p.Ser653Asn)	not provided [RCV000762494]	uncertain significance	8	10612140	10612140	Human		name
14397286	CV612802	single nucleotide variant	NM_178857.6(RP1L1):c.1616C>T (p.Thr539Ile)	not provided [RCV000762495]	uncertain significance	8	10612482	10612482	Human		name
14746748	CV672072	single nucleotide variant	NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val)	Inborn genetic diseases [RCV004029248]\|RP1L1-related disorder [RCV004751753]\|Retinal dystrophy [RCV004818063]\|Stargardt disease [RCV000844931]	likely benign\|uncertain significance\|not provided	8	10611171	10611171	Human	6	name , alternate_id
21069707	CV796113	single nucleotide variant	NM_178857.6(RP1L1):c.2221A>G (p.Thr741Ala)	not provided [RCV000998994]	likely benign	8	10611877	10611877	Human		name
26910766	CV856572	single nucleotide variant	NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter)	Retinal dystrophy [RCV001075432]	likely pathogenic	8	10611618	10611618	Human	2	name
26910577	CV856574	single nucleotide variant	NM_178857.6(RP1L1):c.2005C>A (p.His669Asn)	Retinal dystrophy [RCV001075149]	uncertain significance	8	10612093	10612093	Human	2	name
26909421	CV856575	single nucleotide variant	NM_178857.6(RP1L1):c.1850G>T (p.Cys617Phe)	Retinal dystrophy [RCV001073419]	uncertain significance	8	10612248	10612248	Human	2	name
26909571	CV856577	single nucleotide variant	NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)	Occult macular dystrophy [RCV002489719]\|Occult macular dystrophy [RCV005232118]\|Retinal dystrophy [RCV001073663]\|Retinitis pigmentosa 88 [RCV005253709]	pathogenic\|likely pathogenic	8	10612909	10612909	Human	5	name
26909301	CV856578	single nucleotide variant	NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)	RP1L1-related disorder [RCV003405291]\|Retinal dystrophy [RCV001073256]\|Retinitis pigmentosa 88 [RCV001593252]\|not provided [RCV001090299]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	8	10612991	10612991	Human	4	name , alternate_id
26909990	CV856579	single nucleotide variant	NM_178857.6(RP1L1):c.1025G>A (p.Arg342Lys)	Retinal dystrophy [RCV001074247]	uncertain significance	8	10613073	10613073	Human	2	name
8632757	CV87972	single nucleotide variant	NM_178857.5(RP1L1):c.2380G>A (p.Glu794Lys)	Malignant melanoma [RCV000068064]	not provided	8	10611718	10611718	Human		name
8632758	CV87973	single nucleotide variant	NM_178857.5(RP1L1):c.2182C>T (p.Pro728Ser)	Malignant melanoma [RCV000068065]	not provided	8	10611916	10611916	Human		name
8632759	CV87974	single nucleotide variant	NM_178857.6(RP1L1):c.1081G>A (p.Glu361Lys)	not provided [RCV003423905]	likely benign\|not provided	8	10613017	10613017	Human		name
28908958	CV898686	single nucleotide variant	NM_178857.6(RP1L1):c.2954G>A (p.Gly985Asp)	Occult macular dystrophy [RCV001160343]	uncertain significance	8	10611144	10611144	Human	2	name
28867630	CV898687	single nucleotide variant	NM_178857.6(RP1L1):c.2848C>T (p.Arg950Cys)	Inborn genetic diseases [RCV004032856]\|Occult macular dystrophy [RCV001161998]	benign\|uncertain significance	8	10611250	10611250	Human	3	name
28867632	CV898688	single nucleotide variant	NM_178857.6(RP1L1):c.2848C>G (p.Arg950Gly)	Occult macular dystrophy [RCV001161999]	benign	8	10611250	10611250	Human	2	name
28871561	CV898689	single nucleotide variant	NM_178857.6(RP1L1):c.2814G>T (p.Glu938Asp)	Occult macular dystrophy [RCV001164011]	likely benign	8	10611284	10611284	Human	2	name
28871563	CV898690	single nucleotide variant	NM_178857.6(RP1L1):c.2696C>T (p.Pro899Leu)	Occult macular dystrophy [RCV001164012]	benign	8	10611402	10611402	Human	2	name
28906691	CV898691	single nucleotide variant	NM_178857.6(RP1L1):c.2629C>T (p.His877Tyr)	Occult macular dystrophy [RCV001159096]\|RP1L1-related disorder [RCV003938526]\|Retinal dystrophy [RCV003890318]	likely benign	8	10611469	10611469	Human	4	name , alternate_id
28906699	CV898694	single nucleotide variant	NM_178857.6(RP1L1):c.2516G>A (p.Arg839Gln)	Inborn genetic diseases [RCV002558404]\|Occult macular dystrophy [RCV001159099]	benign\|uncertain significance	8	10611582	10611582	Human	3	name
28909167	CV898695	single nucleotide variant	NM_178857.6(RP1L1):c.2498C>T (p.Pro833Leu)	Inborn genetic diseases [RCV002559537]\|Occult macular dystrophy [RCV001160452]	likely benign	8	10611600	10611600	Human	3	name
28909169	CV898696	single nucleotide variant	NM_178857.6(RP1L1):c.2465G>A (p.Arg822Gln)	Occult macular dystrophy [RCV001160453]\|Retinal dystrophy [RCV003890323]	benign\|likely benign	8	10611633	10611633	Human	4	name
28909171	CV898697	single nucleotide variant	NM_178857.6(RP1L1):c.2435G>A (p.Arg812Gln)	Occult macular dystrophy [RCV001160455]	uncertain significance	8	10611663	10611663	Human	2	name
28909174	CV898698	single nucleotide variant	NM_178857.6(RP1L1):c.2434C>T (p.Arg812Trp)	Inborn genetic diseases [RCV004960501]\|Occult macular dystrophy [RCV001160456]	likely benign\|uncertain significance	8	10611664	10611664	Human	3	name
28867788	CV898699	single nucleotide variant	NM_178857.6(RP1L1):c.2399C>T (p.Pro800Leu)	Occult macular dystrophy [RCV001162087]	uncertain significance	8	10611699	10611699	Human	2	name
28871779	CV898700	single nucleotide variant	NM_178857.6(RP1L1):c.2315C>T (p.Ser772Leu)	Occult macular dystrophy [RCV001164110]	likely benign	8	10611783	10611783	Human	2	name
28871783	CV898701	single nucleotide variant	NM_178857.6(RP1L1):c.2261C>T (p.Pro754Leu)	Occult macular dystrophy [RCV001164111]	likely benign	8	10611837	10611837	Human	2	name
28906889	CV898706	single nucleotide variant	NM_178857.6(RP1L1):c.2060C>T (p.Pro687Leu)	Inborn genetic diseases [RCV004659364]\|Occult macular dystrophy [RCV001159205]	uncertain significance	8	10612038	10612038	Human	3	name
28909362	CV898708	single nucleotide variant	NM_178857.6(RP1L1):c.1916G>A (p.Arg639Lys)	Occult macular dystrophy [RCV001160565]	uncertain significance	8	10612182	10612182	Human	2	name
28909365	CV898709	single nucleotide variant	NM_178857.6(RP1L1):c.1835T>A (p.Val612Asp)	Occult macular dystrophy [RCV001160566]	uncertain significance	8	10612263	10612263	Human	2	name
28867932	CV898710	single nucleotide variant	NM_178857.6(RP1L1):c.1811C>T (p.Ala604Val)	Occult macular dystrophy [RCV001162176]	benign	8	10612287	10612287	Human	2	name
28867934	CV898711	single nucleotide variant	NM_178857.6(RP1L1):c.1795G>A (p.Glu599Lys)	Occult macular dystrophy [RCV001162177]\|not provided [RCV001726440]\|not specified [RCV001701294]	benign\|likely benign	8	10612303	10612303	Human	2	name
28867936	CV898712	single nucleotide variant	NM_178857.6(RP1L1):c.1763A>G (p.Asp588Gly)	Occult macular dystrophy [RCV001162178]\|Retinal dystrophy [RCV003890328]	benign\|likely benign	8	10612335	10612335	Human	4	name
28872022	CV898714	single nucleotide variant	NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys)	Occult macular dystrophy [RCV001164207]\|Occult macular dystrophy [RCV002483919]\|not provided [RCV004712977]	benign\|likely benign	8	10612407	10612407	Human	2	name
28872031	CV898717	single nucleotide variant	NM_178857.6(RP1L1):c.1587G>C (p.Glu529Asp)	Occult macular dystrophy [RCV001164210]\|Retinal dystrophy [RCV003890335]	likely benign	8	10612511	10612511	Human	4	name
28872034	CV898718	single nucleotide variant	NM_178857.6(RP1L1):c.1568C>A (p.Pro523Gln)	Occult macular dystrophy [RCV001164211]	uncertain significance	8	10612530	10612530	Human	2	name
28909491	CV898720	single nucleotide variant	NM_178857.6(RP1L1):c.1290G>T (p.Gln430His)	Inborn genetic diseases [RCV002558523]\|Occult macular dystrophy [RCV001160665]	benign\|uncertain significance	8	10612808	10612808	Human	3	name
34891765	CV904507	single nucleotide variant	NM_178857.6(RP1L1):c.1394C>T (p.Ser465Leu)	Inborn genetic diseases [RCV003363134]\|not provided [RCV001172183]	uncertain significance	8	10612704	10612704	Human	1	name
38461291	CV919134	single nucleotide variant	NM_178857.6(RP1L1):c.2720C>T (p.Ala907Val)	Retinitis pigmentosa 88 [RCV001197485]	uncertain significance	8	10611378	10611378	Human	1	name
40890048	CV975231	single nucleotide variant	NM_178857.6(RP1L1):c.1122G>A (p.Trp374Ter)	not provided [RCV001268626]	pathogenic	8	10612976	10612976	Human		name
41408174	CV980929	deletion	NM_178857.6(RP1L1):c.5033del (p.Ala1678fs)	Occult macular dystrophy [RCV001283766]	likely pathogenic	8	10609065	10609065	Human	2	name
42723621	CV984503	single nucleotide variant	NM_178857.6(RP1L1):c.2107C>T (p.Arg703Ter)	not provided [RCV001291593]	pathogenic	8	10611991	10611991	Human		name
9480351	CV152884	single nucleotide variant	NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His)	Occult macular dystrophy [RCV000398688]\|Retinal dystrophy [RCV003888570]\|not provided [RCV000132697]	benign\|likely benign	8	10609825	10609825	Human	4	name
596942067	CV3408385	single nucleotide variant	NM_178857.6(RP1L1):c.3189G>C (p.Glu1063Asp)	Retinal dystrophy [RCV004816056]	uncertain significance	8	10610909	10610909	Human	2	name
597719511	CV3587026	single nucleotide variant	NM_178857.6(RP1L1):c.3616G>A (p.Gly1206Ser)	Inborn genetic diseases [RCV004960314]	uncertain significance	8	10610482	10610482	Human	1	name
597719701	CV3587058	single nucleotide variant	NM_178857.6(RP1L1):c.6335A>G (p.Lys2112Arg)	Inborn genetic diseases [RCV004960342]	uncertain significance	8	10607763	10607763	Human	1	name
597719714	CV3587060	single nucleotide variant	NM_178857.6(RP1L1):c.6190G>A (p.Ala2064Thr)	Inborn genetic diseases [RCV004960344]	uncertain significance	8	10607908	10607908	Human	1	name
597719734	CV3587063	single nucleotide variant	NM_178857.6(RP1L1):c.5686G>C (p.Glu1896Gln)	Inborn genetic diseases [RCV004960347]	uncertain significance	8	10608412	10608412	Human	1	name
597719747	CV3587067	single nucleotide variant	NM_178857.6(RP1L1):c.3290C>T (p.Pro1097Leu)	Inborn genetic diseases [RCV004960349]	uncertain significance	8	10610808	10610808	Human	1	name
597719754	CV3587068	single nucleotide variant	NM_178857.6(RP1L1):c.3987A>C (p.Glu1329Asp)	Inborn genetic diseases [RCV004960350]	uncertain significance	8	10610111	10610111	Human	1	name
597720297	CV3587070	single nucleotide variant	NM_178857.6(RP1L1):c.6526G>C (p.Glu2176Gln)	Inborn genetic diseases [RCV004960352]	uncertain significance	8	10607572	10607572	Human	1	name
597720290	CV3587071	single nucleotide variant	NM_178857.6(RP1L1):c.6326A>G (p.Glu2109Gly)	Inborn genetic diseases [RCV004960353]	uncertain significance	8	10607772	10607772	Human	1	name
597720279	CV3587073	single nucleotide variant	NM_178857.6(RP1L1):c.4195C>T (p.Leu1399Phe)	Inborn genetic diseases [RCV004960355]	likely benign	8	10609903	10609903	Human	1	name
597720266	CV3587076	single nucleotide variant	NM_178857.6(RP1L1):c.5359T>G (p.Leu1787Val)	Inborn genetic diseases [RCV004960357]	uncertain significance	8	10608739	10608739	Human	1	name
597720252	CV3587078	single nucleotide variant	NM_178857.6(RP1L1):c.3350C>G (p.Ala1117Gly)	Inborn genetic diseases [RCV004960359]	uncertain significance	8	10610748	10610748	Human	1	name
597720247	CV3587079	single nucleotide variant	NM_178857.6(RP1L1):c.4885C>T (p.Leu1629Phe)	Inborn genetic diseases [RCV004960360]	likely benign	8	10609213	10609213	Human	1	name
597720241	CV3587080	single nucleotide variant	NM_178857.6(RP1L1):c.3401C>T (p.Ser1134Phe)	Inborn genetic diseases [RCV004960361]	uncertain significance	8	10610697	10610697	Human	1	name
597720235	CV3587081	single nucleotide variant	NM_178857.6(RP1L1):c.3629C>T (p.Ser1210Leu)	Inborn genetic diseases [RCV004960362]	uncertain significance	8	10610469	10610469	Human	1	name
597726563	CV3587083	single nucleotide variant	NM_178857.6(RP1L1):c.3986A>G (p.Glu1329Gly)	Inborn genetic diseases [RCV004962320]	uncertain significance	8	10610112	10610112	Human	1	name
597726567	CV3587084	single nucleotide variant	NM_178857.6(RP1L1):c.3034C>A (p.Gln1012Lys)	Inborn genetic diseases [RCV004962321]	uncertain significance	8	10611064	10611064	Human	1	name
597726572	CV3587085	single nucleotide variant	NM_178857.6(RP1L1):c.6410C>A (p.Ala2137Asp)	Inborn genetic diseases [RCV004962322]	uncertain significance	8	10607688	10607688	Human	1	name
598124904	CV3883728	single nucleotide variant	NM_178857.6(RP1L1):c.5480G>A (p.Gly1827Glu)	not provided [RCV005236083]	uncertain significance	8	10608618	10608618	Human		name
598219458	CV3906172	single nucleotide variant	NM_178857.6(RP1L1):c.3658G>A (p.Asp1220Asn)	Inborn genetic diseases [RCV005272155]	uncertain significance	8	10610440	10610440	Human	1	name
598219441	CV3906175	single nucleotide variant	NM_178857.6(RP1L1):c.5377G>C (p.Glu1793Gln)	Inborn genetic diseases [RCV005272158]	uncertain significance	8	10608721	10608721	Human	1	name
598219419	CV3906179	single nucleotide variant	NM_178857.6(RP1L1):c.6698C>G (p.Ala2233Gly)	Inborn genetic diseases [RCV005272162]	uncertain significance	8	10607400	10607400	Human	1	name
598219409	CV3906181	single nucleotide variant	NM_178857.6(RP1L1):c.6137G>T (p.Gly2046Val)	Inborn genetic diseases [RCV005272164]	uncertain significance	8	10607961	10607961	Human	1	name
598219404	CV3906182	single nucleotide variant	NM_178857.6(RP1L1):c.5237G>C (p.Gly1746Ala)	Inborn genetic diseases [RCV005272165]	uncertain significance	8	10608861	10608861	Human	1	name
598219400	CV3906183	single nucleotide variant	NM_178857.6(RP1L1):c.5144C>A (p.Thr1715Lys)	Inborn genetic diseases [RCV005272166]	uncertain significance	8	10608954	10608954	Human	1	name
598219373	CV3906187	single nucleotide variant	NM_178857.6(RP1L1):c.3235G>T (p.Val1079Leu)	Inborn genetic diseases [RCV005272170]	uncertain significance	8	10610863	10610863	Human	1	name
598217945	CV3906189	single nucleotide variant	NM_178857.6(RP1L1):c.6268G>A (p.Ala2090Thr)	Inborn genetic diseases [RCV005272172]	uncertain significance	8	10607830	10607830	Human	1	name
598217959	CV3906192	single nucleotide variant	NM_178857.6(RP1L1):c.4027G>C (p.Glu1343Gln)	Inborn genetic diseases [RCV005272175]	uncertain significance	8	10610071	10610071	Human	1	name
598217970	CV3906194	single nucleotide variant	NM_178857.6(RP1L1):c.6742G>A (p.Glu2248Lys)	Inborn genetic diseases [RCV005272177]	uncertain significance	8	10607356	10607356	Human	1	name
598219361	CV3906197	single nucleotide variant	NM_178857.6(RP1L1):c.5102C>G (p.Thr1701Ser)	Inborn genetic diseases [RCV005272180]	uncertain significance	8	10608996	10608996	Human	1	name
598219340	CV3906200	single nucleotide variant	NM_178857.6(RP1L1):c.5338G>A (p.Glu1780Lys)	Inborn genetic diseases [RCV005272183]	likely benign	8	10608760	10608760	Human	1	name
598219333	CV3906201	single nucleotide variant	NM_178857.6(RP1L1):c.5192G>T (p.Gly1731Val)	Inborn genetic diseases [RCV005272184]	uncertain significance	8	10608906	10608906	Human	1	name
598219318	CV3906204	single nucleotide variant	NM_178857.6(RP1L1):c.6677A>G (p.Glu2226Gly)	Inborn genetic diseases [RCV005272187]	uncertain significance	8	10607421	10607421	Human	1	name
598219311	CV3906205	single nucleotide variant	NM_178857.6(RP1L1):c.6955G>A (p.Val2319Ile)	Inborn genetic diseases [RCV005272188]	uncertain significance	8	10607143	10607143	Human	1	name
598217985	CV3906207	single nucleotide variant	NM_178857.6(RP1L1):c.4445G>C (p.Gly1482Ala)	Inborn genetic diseases [RCV005272190]	uncertain significance	8	10609653	10609653	Human	1	name
598217989	CV3906208	single nucleotide variant	NM_178857.6(RP1L1):c.5345G>C (p.Ser1782Thr)	Inborn genetic diseases [RCV005272191]	uncertain significance	8	10608753	10608753	Human	1	name
598217996	CV3906209	single nucleotide variant	NM_178857.6(RP1L1):c.6358G>A (p.Glu2120Lys)	Inborn genetic diseases [RCV005272192]	uncertain significance	8	10607740	10607740	Human	1	name
598218001	CV3906210	single nucleotide variant	NM_178857.6(RP1L1):c.4930G>C (p.Gly1644Arg)	Inborn genetic diseases [RCV005272193]	uncertain significance	8	10609168	10609168	Human	1	name
598218003	CV3906211	single nucleotide variant	NM_178857.6(RP1L1):c.5554G>A (p.Glu1852Lys)	Inborn genetic diseases [RCV005272194]	uncertain significance	8	10608544	10608544	Human	1	name
598218018	CV3906213	single nucleotide variant	NM_178857.6(RP1L1):c.5988G>C (p.Glu1996Asp)	Inborn genetic diseases [RCV005272196]	uncertain significance	8	10608110	10608110	Human	1	name
598218024	CV3906214	single nucleotide variant	NM_178857.6(RP1L1):c.5218G>A (p.Val1740Met)	Inborn genetic diseases [RCV005272197]	uncertain significance	8	10608880	10608880	Human	1	name
598218048	CV3906219	single nucleotide variant	NM_178857.6(RP1L1):c.5047A>T (p.Ile1683Phe)	Inborn genetic diseases [RCV005272202]	uncertain significance	8	10609051	10609051	Human	1	name
616940001	CV4014274	single nucleotide variant	NM_178857.6(RP1L1):c.4178G>A (p.Gly1393Asp)	not provided [RCV005413768]	uncertain significance	8	10609920	10609920	Human		name
8632755	CV87970	single nucleotide variant	NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met)	Inborn genetic diseases [RCV005268553]\|Occult macular dystrophy [RCV000359483]\|not provided [RCV000998988]	benign\|likely benign\|uncertain significance\|not provided	8	10609521	10609521	Human	3	name
8632756	CV87971	single nucleotide variant	NM_178857.5(RP1L1):c.3013G>A (p.Glu1005Lys)	Malignant melanoma [RCV000068063]	not provided	8	10611085	10611085	Human		name
156193004	CV2350462	single nucleotide variant	NM_178857.6(RP1L1):c.3235G>A (p.Val1079Met)	Inborn genetic diseases [RCV002984726]\|RP1L1-related disorder [RCV003936674]	likely benign\|uncertain significance	8	10610863	10610863	Human	2	alternate_id
401931674	CV2803849	insertion	NM_178857.6(RP1L1):c.796_797insTT (p.Ser266fs)	RP1L1-related disorder [RCV003408403]	likely pathogenic	8	10613301	10613302	Human		trait , alternate_id
11586466	CV303821	single nucleotide variant	NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys)	Occult macular dystrophy [RCV000287972]\|RP1L1-related disorder [RCV003922612]\|not provided [RCV001357290]	benign\|likely benign	8	10609192	10609192	Human	2	alternate_id
11605883	CV307359	single nucleotide variant	NM_178857.6(RP1L1):c.4514C>T (p.Ser1505Leu)	Occult macular dystrophy [RCV000325122]\|RP1L1-related disorder [RCV003902407]	benign\|likely benign	8	10609584	10609584	Human	2	alternate_id
11610448	CV312301	single nucleotide variant	NM_178857.6(RP1L1):c.3691C>T (p.Pro1231Ser)	Inborn genetic diseases [RCV002523614]\|Occult macular dystrophy [RCV000381920]\|RP1L1-related disorder [RCV004751499]	benign\|likely benign\|uncertain significance	8	10610407	10610407	Human	3	alternate_id
11602977	CV312335	single nucleotide variant	NM_178857.6(RP1L1):c.4444G>A (p.Gly1482Arg)	Inborn genetic diseases [RCV002523613]\|Occult macular dystrophy [RCV000295774]\|RP1L1-related disorder [RCV003912550]\|not provided [RCV001700094]	benign\|likely benign	8	10609654	10609654	Human	3	alternate_id
11606930	CV312336	single nucleotide variant	NM_178857.6(RP1L1):c.4275C>A (p.Asp1425Glu)	Occult macular dystrophy [RCV000337721]\|RP1L1-related disorder [RCV003922613]	benign\|likely benign	8	10609823	10609823	Human	2	alternate_id
405267782	CV3198461	single nucleotide variant	NM_178857.6(RP1L1):c.3457A>C (p.Ile1153Leu)	RP1L1-related disorder [RCV003911827]\|not provided [RCV004588522]	likely benign\|uncertain significance	8	10610641	10610641	Human	1	alternate_id
405719619	CV3309890	single nucleotide variant	NM_178857.6(RP1L1):c.3487G>C (p.Val1163Leu)	Inborn genetic diseases [RCV004449638]\|RP1L1-related disorder [RCV004750961]	likely benign\|uncertain significance	8	10610611	10610611	Human	2	alternate_id
405719761	CV3309910	single nucleotide variant	NM_178857.6(RP1L1):c.4379C>T (p.Thr1460Met)	Inborn genetic diseases [RCV004449658]\|RP1L1-related disorder [RCV004750962]	uncertain significance	8	10609719	10609719	Human	2	alternate_id
408378212	CV3511443	single nucleotide variant	NM_178857.6(RP1L1):c.4789G>A (p.Gly1597Arg)	RP1L1-related disorder [RCV004752174]	likely benign	8	10609309	10609309	Human		trait , alternate_id
408378495	CV3512241	duplication	NM_178857.6(RP1L1):c.1396_1410dup (p.Ser470_Cys471insGluProGluSerSer)	RP1L1-related disorder [RCV004752228]	uncertain significance	8	10612687	10612688	Human		trait , alternate_id
408378818	CV3516467	single nucleotide variant	NM_178857.6(RP1L1):c.3346G>C (p.Gly1116Arg)	Inborn genetic diseases [RCV004953736]\|RP1L1-related disorder [RCV004752454]	uncertain significance	8	10610752	10610752	Human	2	alternate_id
12743176	CV361489	single nucleotide variant	NM_178857.6(RP1L1):c.5452G>A (p.Ala1818Thr)	Occult macular dystrophy [RCV001165415]\|RP1L1-related disorder [RCV003418101]\|not provided [RCV000416122]	benign\|uncertain significance	8	10608646	10608646	Human	2	alternate_id
14397289	CV612804	insertion	NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs)	Occult macular dystrophy [RCV005357992]\|RP1L1-related disorder [RCV003396331]\|not provided [RCV000762497]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	10622875	10622876	Human	3	alternate_id
28906510	CV898683	single nucleotide variant	NM_178857.6(RP1L1):c.3067G>C (p.Glu1023Gln)	Inborn genetic diseases [RCV003284005]\|Occult macular dystrophy [RCV001159001]\|RP1L1-related disorder [RCV003908410]	benign\|uncertain significance	8	10611031	10611031	Human	3	alternate_id

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