Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	SNV Germline	Chr6:79493636	Pathogenic	Leber congenital amaurosis 5 Inborn genetic diseases Leber congenital amaurosis Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204615	rs_121918165	17 SubmittersRCV000001019 RCV000190663 RCV001003073 RCV001073263 RCV000812173
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)	SNV Germline	Chr6:79487072	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 5 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA248276	rs_143582502	4 SubmittersRCV000180711 RCV001335589 RCV001272068
NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter)	SNV Germline	Chr6:79491624	Pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA10605770	rs_183261547	3 SubmittersRCV000373471 RCV003463767
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)	SNV Germline	Chr6:79489100	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA3900885	rs_41270545	3 SubmittersRCV000296587 RCV001271950
NM_001122769.3(LCA5):c.-398G>C	SNV Germline	Chr6:79537371	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10622755	rs_370115829	2 SubmittersRCV000377966 RCV002512086
NM_001122769.3(LCA5):c.1497A>G (p.Leu499=)	SNV Germline	Chr6:79487601	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900819	rs_199557499	2 SubmittersRCV000388230 RCV001471048
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)	SNV Germline	Chr6:79487838	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900857	rs_141642284	3 SubmittersRCV000296412 RCV000879434
NM_001122769.3(LCA5):c.1080A>G (p.Glu360=)	SNV Germline	Chr6:79491606	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900950	rs_779447463	2 SubmittersRCV000285608 RCV002058633
NM_001122769.3(LCA5):c.586C>T (p.Leu196=)	SNV Germline	Chr6:79513346	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA3901093	rs_114426854	3 SubmittersRCV000303267 RCV000878193 RCV001272079
NM_001122769.3(LCA5):c.2028C>T (p.Asp676=)	SNV Germline	Chr6:79487070	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900736	rs_768387283	2 SubmittersRCV000358431 RCV001423821
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)	SNV Germline	Chr6:79487352	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA3900782	rs_183011135	4 SubmittersRCV000260046 RCV000945780 RCV001272071
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser)	SNV Germline	Chr6:79491589	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided Leber congenital amaurosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3900944	rs_200988021	4 SubmittersRCV000393430 RCV000946289 RCV001272073 RCV002524508
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)	SNV Germline	Chr6:79487329	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900777	rs_771460783	3 SubmittersRCV000357229 RCV001517466
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)	SNV Germline	Chr6:79513531	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Retinitis pigmentosa Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3901128	rs_200395970	5 SubmittersRCV000400678 RCV001199700 RCV001861293 RCV001553635
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)	SNV Germline	Chr6:79487422	Likely pathogenic	Leber congenital amaurosis Retinal disorder	Criteria Provided Single Submitter	CA364639222	rs_766143193	2 SubmittersRCV000505038 RCV006646005
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	SNV Germline	Chr6:79493633	Pathogenic	Retinal dystrophy Leber congenital amaurosis Inborn genetic diseases Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA141864468	rs_866395428	7 SubmittersRCV000504935 RCV000505126 RCV000624398 RCV001382408 RCV001834629
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter)	SNV Germline	Chr6:79487855	Pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364641360	rs_1268307330	4 SubmittersRCV000794733 RCV001592971
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)	SNV Germline	Chr6:79513694	Pathogenic	Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA3901162	rs_781035395	3 SubmittersRCV000819586 RCV001003074 RCV003461262
NM_001122769.3(LCA5):c.190+1G>A	SNV Germline	Chr6:79518704	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364631237	rs_746351112	4 SubmittersRCV000792715 RCV001075221 RCV003467331
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)	SNV Germline	Chr6:79487456	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Conflicting Classifications	CA3900794	rs_185347145	3 SubmittersRCV000878192 RCV001158868
NM_001122769.3(LCA5):c.919C>G (p.Pro307Ala)	SNV Germline	Chr6:79492587	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3900981	rs_139892282	2 SubmittersRCV000878461 RCV004027907
NM_001122769.3(LCA5):c.902G>A (p.Arg301His)	SNV Germline	Chr6:79492604	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 5 LCA5-related disorder	Criteria Provided Conflicting Classifications	CA3900984	rs_139142572	5 SubmittersRCV000878502 RCV001272075 RCV001160207 RCV004753064
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)	SNV Germline	Chr6:79513594	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 5 Leber congenital amaurosis LCA5-related disorder	Criteria Provided Conflicting Classifications	CA3901135	rs_181890907	4 SubmittersRCV000878319 RCV001001709 RCV001272080 RCV004753063
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)	SNV Germline	Chr6:79487298	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Conflicting Classifications	CA3900769	rs_147032284	3 SubmittersRCV000954664 RCV001163776
NM_001122769.3(LCA5):c.1677G>A (p.Ser559=)	SNV Germline	Chr6:79487421	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Conflicting Classifications	CA3900784	rs_144098531	2 SubmittersRCV000904468 RCV001158866
NM_001122769.3(LCA5):c.1656A>G (p.Ala552=)	SNV Germline	Chr6:79487442	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Conflicting Classifications	CA3900789	rs_368885365	2 SubmittersRCV000907262 RCV001158867
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)	SNV Germline	Chr6:79492551	Pathogenic/Likely pathogenic	Leber congenital amaurosis 1 Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364644392	rs_1178243254	3 SubmittersRCV000987743 RCV001869350 RCV003473531
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)	SNV Germline	Chr6:79487654	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364640795	rs_1182277140	4 SubmittersRCV000998655 RCV003467560
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)	SNV Germline	Chr6:79489144	Pathogenic	Leber congenital amaurosis	No Assertion Criteria Provided	CA364642497	rs_765473119	1 SubmittersRCV001003072
NM_001122769.3(LCA5):c.1458C>A (p.Tyr486Ter)	SNV Germline	Chr6:79487640	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364640740	rs_1769707423	1 SubmittersRCV001061177
NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter)	SNV Germline	Chr6:79518753	Pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364631515	rs_1766524422	2 SubmittersRCV001045145 RCV003467738
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)	SNV Germline	Chr6:79518792	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3901212	rs_748370008	7 SubmittersRCV001046883 RCV001257103 RCV004813601
NM_001122769.3(LCA5):c.661T>G (p.Leu221Val)	SNV Germline	Chr6:79513271	Conflicting classifications of pathogenicity	Retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA3901080	rs_750639988	2 SubmittersRCV001075217 RCV004587041
NM_001122769.3(LCA5):c.1062C>T (p.Tyr354=)	SNV Germline	Chr6:79491624	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900952	rs_183261547	2 SubmittersRCV001160206 RCV001427371
NM_001122769.3(LCA5):c.108A>G (p.Ser36=)	SNV Germline	Chr6:79518787	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA451002625	rs_1196957609	2 SubmittersRCV001163894 RCV002067994
NM_001122769.3(LCA5):c.859-12G>A	SNV Germline	Chr6:79492659	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900996	rs_115317386	2 SubmittersRCV001163583 RCV002067988
NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter)	SNV Germline	Chr6:79493676	Pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364645331	rs_1453987164	4 SubmittersRCV001207493 RCV002504243
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)	SNV Germline	Chr6:79487342	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA3900780	rs_772573829	3 SubmittersRCV001234955 RCV001828868
NM_001122769.3(LCA5):c.871G>T (p.Glu291Ter)	SNV Germline	Chr6:79492635	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364645146	rs_1769876019	1 SubmittersRCV001238691
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)	SNV Germline	Chr6:79493708	Pathogenic	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 5 Polycystic liver disease 2	Criteria Provided Multiple Submitters No Conflicts	CA3901029	rs_151017794	5 SubmittersRCV001234057 RCV001724273 RCV001828861 RCV004813160
NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)	SNV Germline	Chr6:79487612	Pathogenic	Leber congenital amaurosis 5	No Assertion Criteria Provided	CA364640593	rs_1769706250	1 SubmittersRCV001257112
NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter)	SNV Germline	Chr6:79489129	Pathogenic	Leber congenital amaurosis 5	No Assertion Criteria Provided	CA364642432	rs_1769761816	1 SubmittersRCV001257111
NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter)	SNV Germline	Chr6:79513322	Pathogenic	Leber congenital amaurosis 5	No Assertion Criteria Provided	CA364628504	rs_1766298401	1 SubmittersRCV001257108
NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly)	SNV Germline	Chr6:79513537	Likely pathogenic	Leber congenital amaurosis 5	No Assertion Criteria Provided	CA364629197	rs_1766318937	1 SubmittersRCV001257104
NM_001122769.3(LCA5):c.858+1G>C	SNV Germline	Chr6:79493612	Likely pathogenic	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3901011	rs_753594556	3 SubmittersRCV001257110 RCV002570616
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr)	SNV Germline	Chr6:79518893	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA364632418	rs_1331645027	4 SubmittersRCV001306759 RCV005038052 RCV005408821
NM_001122769.3(LCA5):c.859-2A>G	SNV Germline	Chr6:79492649	Likely pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA3900993	rs_757681601	3 SubmittersRCV001379070 RCV001826147
NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter)	SNV Germline	Chr6:79487720	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364641029	rs_2127665995	2 SubmittersRCV001386063 RCV003469717
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter)	SNV Germline	Chr6:79513280	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364628399	rs_1318750068	3 SubmittersRCV001380668 RCV003469653
NM_001122769.3(LCA5):c.344T>A (p.Leu115Ter)	SNV Germline	Chr6:79513588	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364629435	rs_2127680222	1 SubmittersRCV001385412
NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)	SNV Germline	Chr6:79491624	Pathogenic/Likely pathogenic	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364643749	rs_183261547	3 SubmittersRCV001783596 RCV003560845
NM_001122769.3(LCA5):c.1165G>T (p.Glu389Ter)	SNV Germline	Chr6:79489150	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364642525	rs_2127667058	1 SubmittersRCV002037718
NM_001122769.3(LCA5):c.367C>T (p.Gln123Ter)	SNV Germline	Chr6:79513565	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364629323	rs_2127680192	1 SubmittersRCV001939462
NM_001122769.3(LCA5):c.1375G>T (p.Glu459Ter)	SNV Germline	Chr6:79487723	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364641035	rs_1769710277	1 SubmittersRCV001970190
NM_001122769.3(LCA5):c.1098+1G>A	SNV Germline	Chr6:79491587	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364643602	rs_1769843934	1 SubmittersRCV002006703
NM_001122769.3(LCA5):c.271G>T (p.Glu91Ter)	SNV Germline	Chr6:79513661	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364629701	rs_2127680289	1 SubmittersRCV001887858
NM_001122769.3(LCA5):c.1507G>T (p.Glu503Ter)	SNV Germline	Chr6:79487591	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364640456	rs_2127665867	1 SubmittersRCV002007430
NM_001122769.3(LCA5):c.1099-2A>T	SNV Germline	Chr6:79489218	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364642804	rs_2127667162	1 SubmittersRCV002016557
NM_001122769.3(LCA5):c.69C>G (p.Tyr23Ter)	SNV Germline	Chr6:79518826	Pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364631988	rs_750725128	2 SubmittersRCV001946983 RCV006639261
NM_001122769.3(LCA5):c.1458C>G (p.Tyr486Ter)	SNV Germline	Chr6:79487640	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364640739	rs_1769707423	1 SubmittersRCV001925807
NM_001122769.3(LCA5):c.2029G>A (p.Asp677Asn)	SNV Germline	Chr6:79487069	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3900735	rs_367583144	2 SubmittersRCV001872410 RCV003346723
NM_001122769.3(LCA5):c.1324C>T (p.Gln442Ter)	SNV Germline	Chr6:79487774	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364641151	rs_2127666049	1 SubmittersRCV001957718
NM_001122769.3(LCA5):c.3G>A (p.Met1Ile)	SNV Germline	Chr6:79518892	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA364632413	rs_1766535009	2 SubmittersRCV003037179 RCV005406564
NM_001122769.3(LCA5):c.491A>G (p.His164Arg)	SNV Germline	Chr6:79513441	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Conflicting Classifications	CA3901111	rs_183669161	2 SubmittersRCV002634266 RCV003465991
NM_001122769.3(LCA5):c.766C>T (p.Gln256Ter)	SNV Germline	Chr6:79493705	Pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364645399	rs_2533392056	2 SubmittersRCV002594483 RCV005032338
NM_001122769.3(LCA5):c.1616C>G (p.Ser539Ter)	SNV Germline	Chr6:79487482	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364639682	rs_2533369185	1 SubmittersRCV002876955
NM_001122769.3(LCA5):c.1A>G (p.Met1Val)	SNV Germline	Chr6:79518894	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA3901236	rs_776050072	2 SubmittersRCV003002470 RCV006641113
NM_001122769.3(LCA5):c.1363C>T (p.Gln455Ter)	SNV Germline	Chr6:79487735	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364641063	rs_2533370453	1 SubmittersRCV003043612
NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)	SNV Unknown	Chr6:79513586	Pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter	CA364629426	rs_2533439828	1 SubmittersRCV003389570
NM_001122769.3(LCA5):c.955+1G>A	SNV Unknown	Chr6:79492550	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter	CA364644387	rs_1481559911	1 SubmittersRCV003469931
NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)	SNV Unknown	Chr6:79487545	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter	CA364640127	rs_2533369525	1 SubmittersRCV003469933
NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)	SNV Unknown	Chr6:79487862	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter	CA364641394	rs_761872177	1 SubmittersRCV003469935
NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)	SNV Unknown	Chr6:79487303	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter	CA364638377	rs_2533368021	1 SubmittersRCV003469937
NM_001122769.3(LCA5):c.1099-1G>A	SNV Unknown	Chr6:79489217	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter	CA364642803	rs_2533378064	1 SubmittersRCV003469939
NM_001122769.3(LCA5):c.1700C>A (p.Ser567Ter)	SNV Germline	Chr6:79487398	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364639062	rs_2533368650	1 SubmittersRCV003547727
NM_001122769.3(LCA5):c.1616C>A (p.Ser539Ter)	SNV Germline	Chr6:79487482	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364639686	rs_2533369185	1 SubmittersRCV003548256
NM_001122769.3(LCA5):c.721-1G>A	SNV Germline	Chr6:79493751	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364645504	rs_1372793089	2 SubmittersRCV003555292 RCV006643076
NM_001122769.3(LCA5):c.720+1G>A	SNV Germline	Chr6:79513211	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364628004	rs_2533438023	1 SubmittersRCV003555293
NM_001122769.3(LCA5):c.1027G>T (p.Glu343Ter)	SNV Germline	Chr6:79491659	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364643954	rs_2533385885	1 SubmittersRCV003567383
NM_001122769.3(LCA5):c.110C>A (p.Ser37Ter)	SNV Germline	Chr6:79518785	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA364631692	rs_374135825	2 SubmittersRCV003580263 RCV005616691
NM_001122769.3(LCA5):c.1714C>T (p.Gln572Ter)	SNV Germline	Chr6:79487384	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364638959	rs_2533368592	1 SubmittersRCV003676309
NM_001122769.3(LCA5):c.167C>G (p.Ser56Ter)	SNV Germline	Chr6:79518728	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364631370	rs_2533451045	1 SubmittersRCV003688518
NM_001122769.3(LCA5):c.1738C>T (p.Gln580Ter)	SNV Germline	Chr6:79487360	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364638777	rs_1769695958	1 SubmittersRCV003704329
NM_001122769.3(LCA5):c.706G>T (p.Glu236Ter)	SNV Unknown	Chr6:79513226	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter		rs_377719240	1 SubmittersRCV004576797
NM_001122769.3(LCA5):c.1426A>T (p.Arg476Ter)	SNV Unknown	Chr6:79487672	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter		rs_2127665958	1 SubmittersRCV004576800
NM_001122769.3(LCA5):c.604T>C (p.Ser202Pro)	SNV Unknown	Chr6:79513328	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter		rs_2533438607	1 SubmittersRCV004576801
NM_001122769.3(LCA5):c.69C>A (p.Tyr23Ter)	SNV Unknown	Chr6:79518826	Pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter		rs_750725128	1 SubmittersRCV004576804
NM_001122769.3(LCA5):c.680C>A (p.Ser227Ter)	SNV Unknown	Chr6:79513252	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter		rs_2127679884	1 SubmittersRCV004576805
NM_001122769.3(LCA5):c.1490C>G (p.Ser497Ter)	SNV Unknown	Chr6:79487608	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter		rs_2533369844	1 SubmittersRCV004576806
NM_001122769.3(LCA5):c.721-2A>T	SNV Germline	Chr6:79493752	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts		rs_1769905934	2 SubmittersRCV004576807
NM_001122769.3(LCA5):c.1261C>T (p.Gln421Ter)	SNV Germline	Chr6:79487837	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004795305
NM_001122769.3(LCA5):c.1000C>T (p.Gln334Ter)	SNV Germline	Chr6:79491686	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter			1 SubmittersRCV005045857
NM_001122769.3(LCA5):c.964C>T (p.Gln322Ter)	SNV Germline	Chr6:79491722	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter			1 SubmittersRCV005033505
NM_001122769.3(LCA5):c.1A>T (p.Met1Leu)	SNV Germline	Chr6:79518894	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter			1 SubmittersRCV005033508
NM_001122769.3(LCA5):c.1073G>A (p.Trp358Ter)	SNV Germline	Chr6:79491613	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter			1 SubmittersRCV006641999
NM_001122769.3(LCA5):c.1235G>A (p.Trp412Ter)	SNV Germline	Chr6:79487863	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter			1 SubmittersRCV006642001
NM_001122769.3(LCA5):c.1345C>T (p.Gln449Ter)	SNV Germline	Chr6:79487753	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter			1 SubmittersRCV006642003
NM_001122769.3(LCA5):c.423C>G (p.Tyr141Ter)	SNV Germline	Chr6:79513509	Likely pathogenic	Leber congenital amaurosis 5	Criteria Provided Single Submitter			1 SubmittersRCV006642007

NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)

SNV
Germline

Chr6:79493636

Pathogenic

Leber congenital amaurosis 5
Inborn genetic diseases
Leber congenital amaurosis
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204615

rs_121918165

17 SubmittersRCV000001019 RCV000190663 RCV001003073 RCV001073263 RCV000812173

NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)

SNV
Germline

Chr6:79487072

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA248276

rs_143582502

4 SubmittersRCV000180711 RCV001335589 RCV001272068

NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter)

SNV
Germline

Chr6:79491624

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10605770

rs_183261547

3 SubmittersRCV000373471 RCV003463767

NM_001122769.3(LCA5):c.1215T>G (p.Val405=)

SNV
Germline

Chr6:79489100

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA3900885

rs_41270545

3 SubmittersRCV000296587 RCV001271950

NM_001122769.3(LCA5):c.-398G>C

SNV
Germline

Chr6:79537371

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10622755

rs_370115829

2 SubmittersRCV000377966 RCV002512086

NM_001122769.3(LCA5):c.1497A>G (p.Leu499=)

SNV
Germline

Chr6:79487601

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900819

rs_199557499

2 SubmittersRCV000388230 RCV001471048

NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)

SNV
Germline

Chr6:79487838

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900857

rs_141642284

3 SubmittersRCV000296412 RCV000879434

NM_001122769.3(LCA5):c.1080A>G (p.Glu360=)

SNV
Germline

Chr6:79491606

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900950

rs_779447463

2 SubmittersRCV000285608 RCV002058633

NM_001122769.3(LCA5):c.586C>T (p.Leu196=)

SNV
Germline

Chr6:79513346

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA3901093

rs_114426854

3 SubmittersRCV000303267 RCV000878193 RCV001272079

NM_001122769.3(LCA5):c.2028C>T (p.Asp676=)

SNV
Germline

Chr6:79487070

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900736

rs_768387283

2 SubmittersRCV000358431 RCV001423821

NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)

SNV
Germline

Chr6:79487352

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA3900782

rs_183011135

4 SubmittersRCV000260046 RCV000945780 RCV001272071

NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser)

SNV
Germline

Chr6:79491589

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3900944

rs_200988021

4 SubmittersRCV000393430 RCV000946289 RCV001272073 RCV002524508

NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)

SNV
Germline

Chr6:79487329

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900777

rs_771460783

3 SubmittersRCV000357229 RCV001517466

NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)

SNV
Germline

Chr6:79513531

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3901128

rs_200395970

5 SubmittersRCV000400678 RCV001199700 RCV001861293 RCV001553635

NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)

SNV
Germline

Chr6:79487422

Likely pathogenic

Leber congenital amaurosis
Retinal disorder

Criteria Provided
Single Submitter

CA364639222

rs_766143193

2 SubmittersRCV000505038 RCV006646005

NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)

SNV
Germline

Chr6:79493633

Pathogenic

Retinal dystrophy
Leber congenital amaurosis
Inborn genetic diseases
Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA141864468

rs_866395428

7 SubmittersRCV000504935 RCV000505126 RCV000624398 RCV001382408 RCV001834629

NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter)

SNV
Germline

Chr6:79487855

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364641360

rs_1268307330

4 SubmittersRCV000794733 RCV001592971

NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)

SNV
Germline

Chr6:79513694

Pathogenic

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA3901162

rs_781035395

3 SubmittersRCV000819586 RCV001003074 RCV003461262

NM_001122769.3(LCA5):c.190+1G>A

SNV
Germline

Chr6:79518704

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364631237

rs_746351112

4 SubmittersRCV000792715 RCV001075221 RCV003467331

NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)

SNV
Germline

Chr6:79487456

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3900794

rs_185347145

3 SubmittersRCV000878192 RCV001158868

NM_001122769.3(LCA5):c.919C>G (p.Pro307Ala)

SNV
Germline

Chr6:79492587

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3900981

rs_139892282

2 SubmittersRCV000878461 RCV004027907

NM_001122769.3(LCA5):c.902G>A (p.Arg301His)

SNV
Germline

Chr6:79492604

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 5
LCA5-related disorder

Criteria Provided
Conflicting Classifications

CA3900984

rs_139142572

5 SubmittersRCV000878502 RCV001272075 RCV001160207 RCV004753064

NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)

SNV
Germline

Chr6:79513594

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5
Leber congenital amaurosis
LCA5-related disorder

Criteria Provided
Conflicting Classifications

CA3901135

rs_181890907

4 SubmittersRCV000878319 RCV001001709 RCV001272080 RCV004753063

NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)

SNV
Germline

Chr6:79487298

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3900769

rs_147032284

3 SubmittersRCV000954664 RCV001163776

NM_001122769.3(LCA5):c.1677G>A (p.Ser559=)

SNV
Germline

Chr6:79487421

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3900784

rs_144098531

2 SubmittersRCV000904468 RCV001158866

NM_001122769.3(LCA5):c.1656A>G (p.Ala552=)

SNV
Germline

Chr6:79487442

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3900789

rs_368885365

2 SubmittersRCV000907262 RCV001158867

NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)

SNV
Germline

Chr6:79492551

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364644392

rs_1178243254

3 SubmittersRCV000987743 RCV001869350 RCV003473531

NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)

SNV
Germline

Chr6:79487654

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364640795

rs_1182277140

4 SubmittersRCV000998655 RCV003467560

NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)

SNV
Germline

Chr6:79489144

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA364642497

rs_765473119

1 SubmittersRCV001003072

NM_001122769.3(LCA5):c.1458C>A (p.Tyr486Ter)

SNV
Germline

Chr6:79487640

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364640740

rs_1769707423

1 SubmittersRCV001061177

NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter)

SNV
Germline

Chr6:79518753

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364631515

rs_1766524422

2 SubmittersRCV001045145 RCV003467738

NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr6:79518792

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3901212

rs_748370008

7 SubmittersRCV001046883 RCV001257103 RCV004813601

NM_001122769.3(LCA5):c.661T>G (p.Leu221Val)

SNV
Germline

Chr6:79513271

Conflicting classifications of pathogenicity

Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3901080

rs_750639988

2 SubmittersRCV001075217 RCV004587041

NM_001122769.3(LCA5):c.1062C>T (p.Tyr354=)

SNV
Germline

Chr6:79491624

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900952

rs_183261547

2 SubmittersRCV001160206 RCV001427371

NM_001122769.3(LCA5):c.108A>G (p.Ser36=)

SNV
Germline

Chr6:79518787

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA451002625

rs_1196957609

2 SubmittersRCV001163894 RCV002067994

NM_001122769.3(LCA5):c.859-12G>A

SNV
Germline

Chr6:79492659

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900996

rs_115317386

2 SubmittersRCV001163583 RCV002067988

NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter)

SNV
Germline

Chr6:79493676

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364645331

rs_1453987164

4 SubmittersRCV001207493 RCV002504243

NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)

SNV
Germline

Chr6:79487342

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA3900780

rs_772573829

3 SubmittersRCV001234955 RCV001828868

NM_001122769.3(LCA5):c.871G>T (p.Glu291Ter)

SNV
Germline

Chr6:79492635

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364645146

rs_1769876019

1 SubmittersRCV001238691

NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)

SNV
Germline

Chr6:79493708

Pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 5
Polycystic liver disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3901029

rs_151017794

5 SubmittersRCV001234057 RCV001724273 RCV001828861 RCV004813160

NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)

SNV
Germline

Chr6:79487612

Pathogenic

Leber congenital amaurosis 5

No Assertion Criteria Provided

CA364640593

rs_1769706250

1 SubmittersRCV001257112

NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter)

SNV
Germline

Chr6:79489129

Pathogenic

Leber congenital amaurosis 5

No Assertion Criteria Provided

CA364642432

rs_1769761816

1 SubmittersRCV001257111

NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter)

SNV
Germline

Chr6:79513322

Pathogenic

Leber congenital amaurosis 5

No Assertion Criteria Provided

CA364628504

rs_1766298401

1 SubmittersRCV001257108

NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly)

SNV
Germline

Chr6:79513537

Likely pathogenic

Leber congenital amaurosis 5

No Assertion Criteria Provided

CA364629197

rs_1766318937

1 SubmittersRCV001257104

NM_001122769.3(LCA5):c.858+1G>C

SNV
Germline

Chr6:79493612

Likely pathogenic

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3901011

rs_753594556

3 SubmittersRCV001257110 RCV002570616

NM_001122769.3(LCA5):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:79518893

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA364632418

rs_1331645027

4 SubmittersRCV001306759 RCV005038052 RCV005408821

NM_001122769.3(LCA5):c.859-2A>G

SNV
Germline

Chr6:79492649

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA3900993

rs_757681601

3 SubmittersRCV001379070 RCV001826147

NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter)

SNV
Germline

Chr6:79487720

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364641029

rs_2127665995

2 SubmittersRCV001386063 RCV003469717

NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter)

SNV
Germline

Chr6:79513280

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364628399

rs_1318750068

3 SubmittersRCV001380668 RCV003469653

NM_001122769.3(LCA5):c.344T>A (p.Leu115Ter)

SNV
Germline

Chr6:79513588

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364629435

rs_2127680222

1 SubmittersRCV001385412

NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)

SNV
Germline

Chr6:79491624

Pathogenic/Likely pathogenic

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364643749

rs_183261547

3 SubmittersRCV001783596 RCV003560845

NM_001122769.3(LCA5):c.1165G>T (p.Glu389Ter)

SNV
Germline

Chr6:79489150

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364642525

rs_2127667058

1 SubmittersRCV002037718

NM_001122769.3(LCA5):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr6:79513565

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364629323

rs_2127680192

1 SubmittersRCV001939462

NM_001122769.3(LCA5):c.1375G>T (p.Glu459Ter)

SNV
Germline

Chr6:79487723

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364641035

rs_1769710277

1 SubmittersRCV001970190

NM_001122769.3(LCA5):c.1098+1G>A

SNV
Germline

Chr6:79491587

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364643602

rs_1769843934

1 SubmittersRCV002006703

NM_001122769.3(LCA5):c.271G>T (p.Glu91Ter)

SNV
Germline

Chr6:79513661

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364629701

rs_2127680289

1 SubmittersRCV001887858

NM_001122769.3(LCA5):c.1507G>T (p.Glu503Ter)

SNV
Germline

Chr6:79487591

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364640456

rs_2127665867

1 SubmittersRCV002007430

NM_001122769.3(LCA5):c.1099-2A>T

SNV
Germline

Chr6:79489218

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364642804

rs_2127667162

1 SubmittersRCV002016557

NM_001122769.3(LCA5):c.69C>G (p.Tyr23Ter)

SNV
Germline

Chr6:79518826

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364631988

rs_750725128

2 SubmittersRCV001946983 RCV006639261

NM_001122769.3(LCA5):c.1458C>G (p.Tyr486Ter)

SNV
Germline

Chr6:79487640

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364640739

rs_1769707423

1 SubmittersRCV001925807

NM_001122769.3(LCA5):c.2029G>A (p.Asp677Asn)

SNV
Germline

Chr6:79487069

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3900735

rs_367583144

2 SubmittersRCV001872410 RCV003346723

NM_001122769.3(LCA5):c.1324C>T (p.Gln442Ter)

SNV
Germline

Chr6:79487774

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364641151

rs_2127666049

1 SubmittersRCV001957718

NM_001122769.3(LCA5):c.3G>A (p.Met1Ile)

SNV
Germline

Chr6:79518892

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA364632413

rs_1766535009

2 SubmittersRCV003037179 RCV005406564

NM_001122769.3(LCA5):c.491A>G (p.His164Arg)

SNV
Germline

Chr6:79513441

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3901111

rs_183669161

2 SubmittersRCV002634266 RCV003465991

NM_001122769.3(LCA5):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr6:79493705

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364645399

rs_2533392056

2 SubmittersRCV002594483 RCV005032338

NM_001122769.3(LCA5):c.1616C>G (p.Ser539Ter)

SNV
Germline

Chr6:79487482

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364639682

rs_2533369185

1 SubmittersRCV002876955

NM_001122769.3(LCA5):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:79518894

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA3901236

rs_776050072

2 SubmittersRCV003002470 RCV006641113

NM_001122769.3(LCA5):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr6:79487735

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364641063

rs_2533370453

1 SubmittersRCV003043612

NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)

SNV
Unknown

Chr6:79513586

Pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364629426

rs_2533439828

1 SubmittersRCV003389570

NM_001122769.3(LCA5):c.955+1G>A

SNV
Unknown

Chr6:79492550

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364644387

rs_1481559911

1 SubmittersRCV003469931

NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)

SNV
Unknown

Chr6:79487545

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364640127

rs_2533369525

1 SubmittersRCV003469933

NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)

SNV
Unknown

Chr6:79487862

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364641394

rs_761872177

1 SubmittersRCV003469935

NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)

SNV
Unknown

Chr6:79487303

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364638377

rs_2533368021

1 SubmittersRCV003469937

NM_001122769.3(LCA5):c.1099-1G>A

SNV
Unknown

Chr6:79489217

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364642803

rs_2533378064

1 SubmittersRCV003469939

NM_001122769.3(LCA5):c.1700C>A (p.Ser567Ter)

SNV
Germline

Chr6:79487398

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364639062

rs_2533368650

1 SubmittersRCV003547727

NM_001122769.3(LCA5):c.1616C>A (p.Ser539Ter)

SNV
Germline

Chr6:79487482

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364639686

rs_2533369185

1 SubmittersRCV003548256

NM_001122769.3(LCA5):c.721-1G>A

SNV
Germline

Chr6:79493751

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364645504

rs_1372793089

2 SubmittersRCV003555292 RCV006643076

NM_001122769.3(LCA5):c.720+1G>A

SNV
Germline

Chr6:79513211

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364628004

rs_2533438023

1 SubmittersRCV003555293

NM_001122769.3(LCA5):c.1027G>T (p.Glu343Ter)

SNV
Germline

Chr6:79491659

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364643954

rs_2533385885

1 SubmittersRCV003567383

NM_001122769.3(LCA5):c.110C>A (p.Ser37Ter)

SNV
Germline

Chr6:79518785

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364631692

rs_374135825

2 SubmittersRCV003580263 RCV005616691

NM_001122769.3(LCA5):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr6:79487384

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364638959

rs_2533368592

1 SubmittersRCV003676309

NM_001122769.3(LCA5):c.167C>G (p.Ser56Ter)

SNV
Germline

Chr6:79518728

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364631370

rs_2533451045

1 SubmittersRCV003688518

NM_001122769.3(LCA5):c.1738C>T (p.Gln580Ter)

SNV
Germline

Chr6:79487360

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364638777

rs_1769695958

1 SubmittersRCV003704329

NM_001122769.3(LCA5):c.706G>T (p.Glu236Ter)

SNV
Unknown

Chr6:79513226

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_377719240

1 SubmittersRCV004576797

NM_001122769.3(LCA5):c.1426A>T (p.Arg476Ter)

SNV
Unknown

Chr6:79487672

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_2127665958

1 SubmittersRCV004576800

NM_001122769.3(LCA5):c.604T>C (p.Ser202Pro)

SNV
Unknown

Chr6:79513328

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_2533438607

1 SubmittersRCV004576801

NM_001122769.3(LCA5):c.69C>A (p.Tyr23Ter)

SNV
Unknown

Chr6:79518826

Pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_750725128

1 SubmittersRCV004576804

NM_001122769.3(LCA5):c.680C>A (p.Ser227Ter)

SNV
Unknown

Chr6:79513252

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_2127679884

1 SubmittersRCV004576805

NM_001122769.3(LCA5):c.1490C>G (p.Ser497Ter)

SNV
Unknown

Chr6:79487608

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_2533369844

1 SubmittersRCV004576806

NM_001122769.3(LCA5):c.721-2A>T

SNV
Germline

Chr6:79493752

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1769905934

2 SubmittersRCV004576807

NM_001122769.3(LCA5):c.1261C>T (p.Gln421Ter)

SNV
Germline

Chr6:79487837

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004795305

NM_001122769.3(LCA5):c.1000C>T (p.Gln334Ter)

SNV
Germline

Chr6:79491686

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV005045857

NM_001122769.3(LCA5):c.964C>T (p.Gln322Ter)

SNV
Germline

Chr6:79491722

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV005033505

NM_001122769.3(LCA5):c.1A>T (p.Met1Leu)

SNV
Germline

Chr6:79518894

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV005033508

NM_001122769.3(LCA5):c.1073G>A (p.Trp358Ter)

SNV
Germline

Chr6:79491613

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV006641999

NM_001122769.3(LCA5):c.1235G>A (p.Trp412Ter)

SNV
Germline

Chr6:79487863

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV006642001

NM_001122769.3(LCA5):c.1345C>T (p.Gln449Ter)

SNV
Germline

Chr6:79487753

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV006642003

NM_001122769.3(LCA5):c.423C>G (p.Tyr141Ter)

SNV
Germline

Chr6:79513509

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV006642007