Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	SNV Germline	Chr1:68439586	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA226577	rs_61752895	9 SubmittersRCV000013993 RCV000085219 RCV001236263 RCV001831567 RCV001376448 RCV003460467 RCV004794340
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	SNV Germline	Chr1:68444858	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 2 RPE65-related disorder Leber congenital amaurosis Retinitis pigmentosa 20 Autosomal recessive retinitis pigmentosa Leber congenital amaurosis Abnormality of the eye RPE65-related recessive retinopathy Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226531	rs_61752871	21 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001073556 RCV001250682 RCV001095690 RCV001257818 RCV001275337 RCV001813981 RCV004595852 RCV005031436
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	SNV Germline	Chr1:68431160	Likely pathogenic	Retinitis pigmentosa 20 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 not specified Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226509	rs_62637004	7 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190 RCV005025051 RCV004801914
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	SNV Germline	Chr1:68438228	Pathogenic	Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA256730	rs_121917744	9 SubmittersRCV000013996 RCV000815732 RCV001250693 RCV003460468 RCV001826460 RCV005025052
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	SNV Germline	Chr1:68438293	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226472	rs_61752909	15 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV003764564 RCV001047062 RCV001831568 RCV004814898 RCV002496352
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	SNV Germline	Chr1:68429835	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226519	rs_121917745	11 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV001826461 RCV000816506 RCV003887868 RCV003764565
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	SNV Germline	Chr1:68438213	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related disorder Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226484	rs_62653011	16 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000787920 RCV001054423 RCV001275328 RCV000348257 RCV004814916 RCV005025077 RCV003764626
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	SNV Germline	Chr1:68439033	Pathogenic	Leber congenital amaurosis 2 Condition: not provided RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226589	rs_61752904	7 SubmittersRCV000022753 RCV000085231 RCV003764627 RCV002490403 RCV002513174
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	SNV Germline	Chr1:68431328	Likely pathogenic	Leber congenital amaurosis 2 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy RPE65-related disorder Leber congenital amaurosis	Reviewed By Expert Panel	CA226500	rs_62636300	8 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003764628 RCV004732553 RCV003317042
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)	SNV Germline	Chr1:68438237	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226480	rs_62646883	3 SubmittersRCV000085147 RCV001854496 RCV004801916
NM_000329.3(RPE65):c.11+5G>A	SNV Germline	Chr1:68449890	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy RPE65-related disorder Inborn genetic diseases	Reviewed By Expert Panel	CA226483	rs_61751276	24 SubmittersRCV000022752 RCV000085149 RCV000505050 RCV001275342 RCV000524808 RCV000678614 RCV002498448 RCV003460766 RCV004732661 RCV004955275
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)	SNV Germline	Chr1:68438212	Likely pathogenic	Condition: not provided RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226485	rs_62653012	2 SubmittersRCV000085151 RCV003764785
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	SNV Germline	Chr1:68446837	Pathogenic	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Leber congenital amaurosis 2 Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226491	rs_61751281	11 SubmittersRCV000085155 RCV000132582 RCV001047503 RCV001275340 RCV001250675 RCV001074416 RCV002498450 RCV004527312
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)	SNV Germline	Chr1:68431491	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226497	rs_62636298	5 SubmittersRCV000085159 RCV001041992 RCV001089894 RCV002509207
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	SNV Germline	Chr1:68431371	Likely pathogenic	Condition: not provided Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Inborn genetic diseases Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Reviewed By Expert Panel	CA226499	rs_62636299	8 SubmittersRCV000085160 RCV001074061 RCV004767068 RCV001323215 RCV003466997 RCV003764786 RCV004955276 RCV005025143
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)	SNV Germline	Chr1:68431313	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA226505	rs_62637002	2 SubmittersRCV000085165
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	SNV Germline	Chr1:68446824	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Autosomal recessive retinitis pigmentosa RPE65-related disorder RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226506	rs_61751282	9 SubmittersRCV000085166 RCV000701390 RCV001250676 RCV001275338 RCV001808321 RCV001257816 RCV004528783 RCV005620901
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	SNV Germline	Chr1:68431131	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts	CA226513	rs_62637006	6 SubmittersRCV000085172 RCV001250694 RCV002513922 RCV001376503
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	SNV Germline	Chr1:68431097	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226515	rs_62637007	6 SubmittersRCV000085173 RCV001250706 RCV003764787 RCV004786365
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	SNV Germline	Chr1:68429927	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226517	rs_62653015	11 SubmittersRCV000085175 RCV001250703 RCV001826773 RCV001854497 RCV003764788 RCV005025144
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)	SNV Germline	Chr1:68446753	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226523	rs_61752866	4 SubmittersRCV000085179 RCV003466999 RCV005237530 RCV005425724
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)	SNV Germline	Chr1:68446720	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226528	rs_61752869	3 SubmittersRCV000085182 RCV003764790 RCV004801917
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	SNV Germline	Chr1:68444857	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa RPE65-related recessive retinopathy Inborn genetic diseases Retinal dystrophy Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226533	rs_61752873	12 SubmittersRCV000085186 RCV002247485 RCV001061074 RCV001275336 RCV001731373 RCV003764791 RCV003242980 RCV004815048 RCV005031578
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)	SNV Germline	Chr1:68444857	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226534	rs_61752873	3 SubmittersRCV000085187 RCV001250683 RCV005425725
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln)	SNV Germline	Chr1:68444846	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA226535	rs_61752874	2 SubmittersRCV000085188
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:68449904	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Multiple Submitters No Conflicts	CA226537	rs_281865285	6 SubmittersRCV000085190 RCV001376504 RCV001377675 RCV004815049 RCV005606645 RCV005025145
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)	SNV Germline	Chr1:68444825	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Single Submitter	CA226539	rs_62642584	2 SubmittersRCV000085191 RCV005031580
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	SNV Germline	Chr1:68444825	Pathogenic	Condition: not provided RPE65-related disorder Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226540	rs_62642584	11 SubmittersRCV000085192 RCV001249229 RCV000763389 RCV003467000 RCV001275333 RCV004815050 RCV003764793
NM_000329.3(RPE65):c.311G>T (p.Gly104Val)	SNV Germline	Chr1:68444818	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226542	rs_61752875	3 SubmittersRCV000085193 RCV001588914 RCV005425726
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	SNV Germline	Chr1:68444656	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Inborn genetic diseases Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226545	rs_61752877	13 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV003242981 RCV001275332 RCV003888467 RCV002490740 RCV003764794
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)	SNV Germline	Chr1:68444596	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226550	rs_61752880	4 SubmittersRCV000085198 RCV001854498 RCV004566978 RCV004595854
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)	SNV Germline	Chr1:68444582	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226553	rs_61752882	3 SubmittersRCV000085200 RCV001250685 RCV005620902
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	SNV Germline	Chr1:68440997	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related disorder Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Reviewed By Expert Panel	CA226557	rs_61752883	11 SubmittersRCV000085203 RCV000678617 RCV001250708 RCV001831894 RCV000778252 RCV001245153 RCV004527316 RCV005031581
NM_000329.3(RPE65):c.544C>A (p.His182Asn)	SNV Germline	Chr1:68440952	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226558	rs_61752884	3 SubmittersRCV000085204 RCV001250687
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	SNV Germline	Chr1:68440952	Pathogenic	Condition: not provided Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226559	rs_61752884	5 SubmittersRCV000085205 RCV001257821 RCV001388257 RCV004566979 RCV004527317
NM_000329.3(RPE65):c.644-2A>T	SNV Unknown	Chr1:68439644	Pathogenic	Condition: not provided Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226571	rs_61752891	2 SubmittersRCV000085214 RCV003467001
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	SNV Germline	Chr1:68448653	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226576	rs_61751277	10 SubmittersRCV000085218 RCV001218527 RCV002222384 RCV003764796 RCV001250672
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	SNV Germline	Chr1:68439571	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226579	rs_61752896	9 SubmittersRCV000085220 RCV001207227 RCV000678618 RCV005357534 RCV001831895 RCV003764797
NM_000329.3(RPE65):c.858+1G>A	SNV Germline	Chr1:68439190	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226582	rs_61752899	3 SubmittersRCV000085223 RCV001250702 RCV001388254
NM_000329.3(RPE65):c.858+1G>T	SNV Germline	Chr1:68439190	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA226583	rs_61752899	3 SubmittersRCV000085224 RCV001270786 RCV002513924
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	SNV Germline	Chr1:68439081	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226585	rs_281865289	4 SubmittersRCV000085226 RCV002226457 RCV004527320
NM_000329.3(RPE65):c.95-2A>T	SNV Germline	Chr1:68446862	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226591	rs_61751279	14 SubmittersRCV000085232 RCV000668398 RCV001003189 RCV002498451 RCV003460771 RCV001074560 RCV001250674 RCV005252750
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	SNV Germline	Chr1:68438988	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226592	rs_61752905	6 SubmittersRCV000085233 RCV001089895 RCV001854499 RCV003323394
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)	SNV Germline	Chr1:68438951	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226599	rs_61752908	5 SubmittersRCV000085237 RCV001250691 RCV000808234 RCV005606646 RCV005620903
NM_000329.3(RPE65):c.168A>G (p.Pro56=)	SNV Germline	Chr1:68446787	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA243145	rs_150260489	3 SubmittersRCV000177043 RCV001088492 RCV004816282
NM_000329.3(RPE65):c.726-2A>C	SNV Germline	Chr1:68439325	Pathogenic	Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA10581648	rs_878853372	3 SubmittersRCV000225374 RCV003765455 RCV005252828
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)	SNV Germline	Chr1:68444798	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA10603953	rs_886042220	4 SubmittersRCV000288725 RCV004567825 RCV002519096 RCV003765588
NM_000329.3(RPE65):c.1243+10T>C	SNV Germline	Chr1:68431461	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Conflicting Classifications	CA902243	rs_548537552	3 SubmittersRCV000287911 RCV000352172 RCV000923552 RCV001196851
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)	SNV Germline	Chr1:68444862	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Conflicting Classifications	CA902554	rs_372620785	2 SubmittersRCV000271691 RCV000384862 RCV001419413
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)	SNV Germline	Chr1:68439603	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 2 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10611418	rs_886046510	3 SubmittersRCV000265981 RCV000321010 RCV003888702
NM_000329.3(RPE65):c.1338+1G>A	SNV Germline	Chr1:68431281	Pathogenic	Abnormality of vision Abnormal electroretinogram Congenital blindness Retinal degeneration Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinal dystrophy Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA16043370	rs_1057518922	6 SubmittersRCV000415360 RCV001198362 RCV001066256 RCV003470368 RCV004816644 RCV005033948 RCV005252881
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	SNV Germline	Chr1:68446825	Pathogenic	Retinitis pigmentosa Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related disorder RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA902588	rs_368088025	13 SubmittersRCV000787883 RCV000416243 RCV003470371 RCV000528380 RCV001275339 RCV001249416 RCV002466496 RCV003889879
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)	SNV Germline	Chr1:68431376	Likely pathogenic	Condition: not provided RPE65-related recessive retinopathy Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA16617183	rs_1064795255	3 SubmittersRCV000483168 RCV003766693 RCV005398695
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	SNV Germline	Chr1:68431282	Pathogenic	Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340742354	rs_1420672586	4 SubmittersRCV000515733 RCV001245608 RCV003766756
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	SNV Germline	Chr1:68438214	Pathogenic	Leber congenital amaurosis RPE65-related recessive retinopathy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Reviewed By Expert Panel	CA418279061	rs_1553152989	6 SubmittersRCV000515747 RCV004527377 RCV001865522 RCV002248718
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	SNV Germline	Chr1:68448644	Pathogenic	Retinal dystrophy Leber congenital amaurosis Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA902628	rs_199683808	10 SubmittersRCV000504723 RCV001834621 RCV001250673 RCV001377674 RCV001724032 RCV002496962 RCV004527379
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	SNV Germline	Chr1:68444607	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340747862	rs_1191496583	4 SubmittersRCV000542372 RCV000754974 RCV003470756 RCV003767007
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)	SNV Germline	Chr1:68446740	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Conflicting Classifications	CA340748948	rs_1553153597	2 SubmittersRCV000553292 RCV002287424
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)	SNV Germline	Chr1:68440940	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340747108	rs_1553153243	1 SubmittersRCV000626100
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)	SNV Germline	Chr1:68438958	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Condition: not provided RPE65-related recessive retinopathy Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA340744630	rs_1169420841	5 SubmittersRCV000672144 RCV004788098 RCV004801923 RCV005034264
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	SNV Germline	Chr1:68439294	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided RPE65-related recessive retinopathy not specified	Reviewed By Expert Panel	CA340745829	rs_1553153135	5 SubmittersRCV000672055 RCV001549804 RCV004527392 RCV004768542
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	SNV Germline	Chr1:68439568	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts	CA902422	rs_192907397	5 SubmittersRCV001244442 RCV000754973 RCV005034282 RCV003232070
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	SNV Germline	Chr1:68446713	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy Retinitis pigmentosa Condition: not provided	Reviewed By Expert Panel	CA340748885	rs_1429137932	6 SubmittersRCV001098872 RCV001053470 RCV000754977 RCV004527393 RCV001098873 RCV001756143
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)	SNV Germline	Chr1:68431116	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340741969	rs_1395763356	4 SubmittersRCV000678615 RCV001868293 RCV004702311 RCV004801924
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)	SNV Germline	Chr1:68444593	Likely pathogenic	Cone-rod dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340747763	rs_767528365	2 SubmittersRCV000678616 RCV003768029
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)	SNV Germline	Chr1:68439224	Pathogenic	Congenital isolated adrenocorticotropic hormone deficiency Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340745589	rs_988133284	5 SubmittersRCV000754599 RCV001382566 RCV001731903 RCV004817950 RCV004569407
NM_000329.3(RPE65):c.1451-2A>C	SNV Unknown	Chr1:68429929	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340741550	rs_1557595199	1 SubmittersRCV000761520
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)	SNV Germline	Chr1:68444800	Pathogenic	Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340748193	rs_1571170561	3 SubmittersRCV000787882 RCV002535759 RCV004595858
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	SNV Germline	Chr1:68431509	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA902254	rs_774130993	9 SubmittersRCV001089892 RCV001593012 RCV000817537 RCV001075233 RCV001830793 RCV005029504 RCV003461248
NM_000329.3(RPE65):c.942C>T (p.His314=)	SNV Germline	Chr1:68438998	Conflicting classifications of pathogenicity	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA902340	rs_752875512	3 SubmittersRCV000952170 RCV001102428 RCV001102429 RCV001836036
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)	SNV Germline	Chr1:68431560	Conflicting classifications of pathogenicity	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related disorder Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA902266	rs_201379753	5 SubmittersRCV000884725 RCV001098673 RCV004530925 RCV001098674 RCV003890011
NM_000329.3(RPE65):c.783G>T (p.Leu261=)	SNV Germline	Chr1:68439266	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA902396	rs_188493184	4 SubmittersRCV000922726 RCV001098759 RCV001098760 RCV001275284 RCV003890070
NM_000329.3(RPE65):c.675C>A (p.Ile225=)	SNV Germline	Chr1:68439611	Pathogenic	Condition: not provided RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA418281644	rs_114379164	2 SubmittersRCV000920758 RCV003768834
NM_000329.3(RPE65):c.1338+8A>G	SNV Germline	Chr1:68431274	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA902206	rs_777211540	2 SubmittersRCV000912094 RCV001102319 RCV001102320
NM_000329.3(RPE65):c.95-10T>A	SNV Germline	Chr1:68446870	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa Leber congenital amaurosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA902601	rs_547374432	4 SubmittersRCV000926497 RCV001100688 RCV001100687 RCV001729747
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	SNV Germline	Chr1:68431085	Pathogenic/Likely pathogenic	Retinitis pigmentosa 87 with choroidal involvement RPE65-related disorder Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy Retinitis pigmentosa 20 Neurodevelopmental disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340741778	rs_1571158279	7 SubmittersRCV000927801 RCV001034696 RCV001068036 RCV001074701 RCV001376263 RCV002279647 RCV003117646
NM_000329.3(RPE65):c.375A>G (p.Gly125=)	SNV Germline	Chr1:68444651	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA902518	rs_992113946	4 SubmittersRCV000933065 RCV001097115 RCV001097116 RCV001275287 RCV003890087
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)	SNV Germline	Chr1:68429795	Likely pathogenic	Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340740566	rs_1193631220	4 SubmittersRCV000986326 RCV005427492
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)	SNV Germline	Chr1:68431471	Pathogenic/Likely pathogenic	Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts	CA340742798	rs_1571158755	2 SubmittersRCV000986327 RCV001858636
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val)	SNV Unknown	Chr1:68438311	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340744471	rs_1571164534	1 SubmittersRCV000986329
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	SNV Germline	Chr1:68440936	Pathogenic	Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Condition: not provided RPE65-related disorder Leber congenital amaurosis Retinitis pigmentosa RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA902468	rs_752058510	7 SubmittersRCV000986330 RCV001219364 RCV001585895 RCV002255100 RCV003324538 RCV003324537 RCV003769292
NM_000329.3(RPE65):c.722A>T (p.His241Leu)	SNV Germline	Chr1:68439564	Pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA340745914	rs_1557600322	1 SubmittersRCV001003187
NM_000329.3(RPE65):c.227A>C (p.His76Pro)	SNV Germline	Chr1:68446728	Pathogenic	Leber congenital amaurosis	No Assertion Criteria Provided	CA340748920	rs_1571172233	1 SubmittersRCV001003188
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)	SNV Germline	Chr1:68438231	Pathogenic	Autism Global developmental delay Retinal dystrophy Rod-cone dystrophy Nystagmus RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340744135	rs_1571164333	2 SubmittersRCV001003571 RCV004595860
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)	SNV Germline	Chr1:68429927	Pathogenic	Leber congenital amaurosis RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA902151	rs_62653015	4 SubmittersRCV001199757 RCV004527406 RCV003769401
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)	SNV Germline	Chr1:68440879	Likely pathogenic	Retinitis pigmentosa 20 Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Multiple Submitters No Conflicts	CA902456	rs_768445391	5 SubmittersRCV001029769 RCV001073324 RCV001208105 RCV001836068 RCV005036298
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)	SNV Germline	Chr1:68431070	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA902169	rs_749242996	3 SubmittersRCV001054425 RCV001559438 RCV005253695
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)	SNV Germline	Chr1:68431319	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy Retinitis pigmentosa 20	Reviewed By Expert Panel	CA340742486	rs_34627040	5 SubmittersRCV001054822 RCV001250697 RCV001827346 RCV004527410 RCV005623082
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)	SNV Germline	Chr1:68440989	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340747211	rs_1645898563	1 SubmittersRCV001039691
NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe)	SNV Germline	Chr1:68431311	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA340742451	rs_1645824260	1 SubmittersRCV001074419
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)	SNV Germline	Chr1:68438275	Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA902309	rs_562037932	4 SubmittersRCV001073373 RCV002554658 RCV003469271 RCV004801928
NM_000329.3(RPE65):c.331C>A (p.Pro111Thr)	SNV Germline	Chr1:68444798	Likely pathogenic	Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340748185	rs_886042220	2 SubmittersRCV001074561 RCV003768999
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)	SNV Germline	Chr1:68444827	Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis	Reviewed By Expert Panel	CA340748300	rs_1444234037	5 SubmittersRCV001073555 RCV001089888 RCV002554669 RCV004801929 RCV005408682
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)	SNV Germline	Chr1:68431135	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340742114	rs_1645823028	4 SubmittersRCV001201914 RCV001089890 RCV002511032 RCV003769013
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)	SNV Germline	Chr1:68431292	Likely pathogenic	Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340742376	rs_1645824187	4 SubmittersRCV001102321 RCV001862663 RCV001089891 RCV003769014
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)	SNV Germline	Chr1:68444542	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA902499	rs_774309607	4 SubmittersRCV001206190 RCV004801930 RCV005036393 RCV001089896
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser)	SNV Germline	Chr1:68444672	Pathogenic	Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340748033	rs_1015895028	2 SubmittersRCV001089893 RCV004595861
NM_000329.3(RPE65):c.807T>C (p.Ser269=)	SNV Germline	Chr1:68439242	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Conflicting Classifications	CA902391	rs_774896870	2 SubmittersRCV001098757 RCV001098758 RCV001405985
NM_000329.3(RPE65):c.576T>A (p.Ile192=)	SNV Germline	Chr1:68440920	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA23572062	rs_747122876	3 SubmittersRCV001100590 RCV001100591 RCV003769066 RCV005243469
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)	SNV Germline	Chr1:68444660	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Conflicting Classifications	CA418282754	rs_1479443954	2 SubmittersRCV001097117 RCV001097118 RCV001444955
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)	SNV Germline	Chr1:68439023	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis	Reviewed By Expert Panel	CA340744901	rs_1171545533	4 SubmittersRCV001212438 RCV003469354 RCV004801931 RCV005408752
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)	SNV Germline	Chr1:68439303	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA902404	rs_373652862	3 SubmittersRCV001206748 RCV001833815 RCV003469337
NM_000329.3(RPE65):c.643+2T>A	SNV Germline	Chr1:68440851	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340746737	rs_1645896934	2 SubmittersRCV001210075 RCV003469347
NM_000329.3(RPE65):c.726-2A>T	SNV Germline	Chr1:68439325	Pathogenic	Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340745897	rs_878853372	6 SubmittersRCV001250705 RCV001224577 RCV004813910 RCV005036492 RCV005253749
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)	SNV Germline	Chr1:68440960	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340747151	rs_1645898265	2 SubmittersRCV001238369 RCV003770275
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)	SNV Germline	Chr1:68444593	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Conflicting Classifications	CA902508	rs_767528365	10 SubmittersRCV001244171 RCV001701309 RCV001836228 RCV004813999 RCV004813998 RCV005253763 RCV005036527
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)	SNV Germline	Chr1:68444605	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340747854	rs_1469460289	1 SubmittersRCV001245546
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)	SNV Germline	Chr1:68446831	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Condition: not provided RPE65-related recessive retinopathy Retinitis pigmentosa 20	Reviewed By Expert Panel	CA902590	rs_750724065	5 SubmittersRCV001243775 RCV001829042 RCV001773551 RCV004801934 RCV004556080
NM_000329.3(RPE65):c.11+2T>G	SNV Germline	Chr1:68449893	Pathogenic/Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA902657	rs_778768116	3 SubmittersRCV001230466 RCV001833994 RCV003469408
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)	SNV Germline	Chr1:68438947	Pathogenic/Likely pathogenic	Leber congenital amaurosis 2 Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts	CA340744580	rs_1645879569	4 SubmittersRCV001250692 RCV001257822 RCV002570429 RCV004798894
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)	SNV Germline	Chr1:68439017	Likely pathogenic	Leber congenital amaurosis 2	No Assertion Criteria Provided	CA340744884	rs_1645880232	1 SubmittersRCV001250690
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)	SNV Germline	Chr1:68439026	Likely pathogenic	Leber congenital amaurosis 2	No Assertion Criteria Provided	CA340744912	rs_1645880293	1 SubmittersRCV001250689
NM_000329.3(RPE65):c.770T>G (p.Val257Gly)	SNV Germline	Chr1:68439279	Likely pathogenic	Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340745797	rs_1645883131	2 SubmittersRCV001250709 RCV005621090
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)	SNV Germline	Chr1:68439580	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340745946	rs_1645885900	2 SubmittersRCV001250699 RCV001390652
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)	SNV Germline	Chr1:68440925	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340747062	rs_1189903735	3 SubmittersRCV001250686 RCV003770301 RCV005621087
NM_000329.3(RPE65):c.407T>G (p.Val136Gly)	SNV Germline	Chr1:68444619	Likely pathogenic	Leber congenital amaurosis 2	No Assertion Criteria Provided	CA340747886	rs_1645928251	1 SubmittersRCV001250696
NM_000329.3(RPE65):c.190C>T (p.Gln64Ter)	SNV Germline	Chr1:68446765	Pathogenic	Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340749039	rs_1645945599	2 SubmittersRCV001250680 RCV005253768
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)	SNV Germline	Chr1:68446768	Likely pathogenic	Leber congenital amaurosis 2	No Assertion Criteria Provided	CA340749045	rs_1645945643	1 SubmittersRCV001250679
NM_000329.3(RPE65):c.246-11A>G	SNV Germline	Chr1:68444894	Likely pathogenic	Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA23575475	rs_905365719	7 SubmittersRCV001250681 RCV002307711 RCV002570428 RCV002480862 RCV003770300 RCV004814022
NM_000329.3(RPE65):c.1129-2A>G	SNV Germline	Chr1:68431587	Pathogenic	Autosomal recessive retinitis pigmentosa RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340743482	rs_1645826941	2 SubmittersRCV001257815 RCV004801935
NM_000329.3(RPE65):c.515T>A (p.Val172Asp)	SNV Germline	Chr1:68440981	Likely pathogenic	Autosomal recessive retinitis pigmentosa RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340747191	rs_1645898413	2 SubmittersRCV001257820 RCV005253773
NM_000329.3(RPE65):c.310G>C (p.Gly104Arg)	SNV Germline	Chr1:68444819	Likely pathogenic	Autosomal recessive retinitis pigmentosa RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340748268	rs_767478543	2 SubmittersRCV001257819 RCV005428156
NM_000329.3(RPE65):c.209T>C (p.Phe70Ser)	SNV Germline	Chr1:68446746	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA340748969	rs_1645945363	3 SubmittersRCV001268583 RCV005225342 RCV005606796
NM_000329.3(RPE65):c.1243+1G>A	SNV Germline	Chr1:68431470	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340742782	rs_1421696563	2 SubmittersRCV001378085 RCV005001218
NM_000329.3(RPE65):c.496-1G>A	SNV Germline	Chr1:68441001	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340747238	rs_2100821984	2 SubmittersRCV001379142 RCV003462960
NM_000329.3(RPE65):c.354-1G>A	SNV Germline	Chr1:68444673	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis	Criteria Provided Single Submitter	CA340748038	rs_2100827985	2 SubmittersRCV001377276 RCV001826126
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)	SNV Germline	Chr1:68444785	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA340748119	rs_1645929674	4 SubmittersRCV001377673 RCV003469629 RCV004596449 RCV005237765
NM_000329.3(RPE65):c.3G>A (p.Met1Ile)	SNV Germline	Chr1:68449903	Pathogenic/Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA340750383	rs_1357241537	2 SubmittersRCV001379122 RCV004801002
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)	SNV Germline	Chr1:68431106	Pathogenic/Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340741897	rs_774211361	3 SubmittersRCV001383020 RCV003128763 RCV003469687
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)	SNV Germline	Chr1:68431116	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340741972	rs_1395763356	3 SubmittersRCV001381888 RCV003469666 RCV003771239
NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter)	SNV Germline	Chr1:68438287	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340744362	rs_2100817136	1 SubmittersRCV001384746
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)	SNV Germline	Chr1:68439028	Pathogenic/Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340744922	rs_2100818575	2 SubmittersRCV001382384 RCV003469676
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)	SNV Germline	Chr1:68440859	Pathogenic/Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340746765	rs_777966849	2 SubmittersRCV001389735 RCV003469763
NM_000329.3(RPE65):c.545A>G (p.His182Arg)	SNV Germline	Chr1:68440951	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA340747132	rs_1459110114	3 SubmittersRCV001388256 RCV004527424 RCV003469740
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)	SNV Germline	Chr1:68446755	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis	Reviewed By Expert Panel	CA340749010	rs_1344724754	4 SubmittersRCV001380404 RCV003469648 RCV003771233 RCV005606818
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)	SNV Germline	Chr1:68448624	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA902623	rs_768448761	3 SubmittersRCV001380405 RCV001826156 RCV003469649
NM_000329.3(RPE65):c.938A>C (p.His313Pro)	SNV Germline	Chr1:68439002	Likely pathogenic	Abnormality of the eye	Criteria Provided Single Submitter	CA340744823	rs_1375943362	1 SubmittersRCV001814345
NM_000329.3(RPE65):c.1306G>A (p.Gly436Arg)	SNV Germline	Chr1:68431314	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA340742464	rs_2100807345	1 SubmittersRCV001576822
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)	SNV Germline	Chr1:68446812	Likely pathogenic	Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 Leber congenital amaurosis 2	Reviewed By Expert Panel	CA340749160	rs_2100831413	4 SubmittersRCV001591854 RCV003771781 RCV004690118 RCV005038270
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter)	SNV Germline	Chr1:68439593	Pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340745977	rs_2100819756	1 SubmittersRCV001591855
NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter)	SNV Germline	Chr1:68431485	Pathogenic	Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340742913	rs_1235881190	1 SubmittersRCV001591858
NM_000329.3(RPE65):c.93A>G (p.Thr31=)	SNV Germline	Chr1:68448625	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA418284162	rs_2100834154	2 SubmittersRCV001682631
NM_000329.3(RPE65):c.1451-1G>A	SNV Germline	Chr1:68429928	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340741548	rs_1317871521	5 SubmittersRCV001775532 RCV003120686 RCV003470896 RCV004527431
NM_000329.3(RPE65):c.354-1G>T	SNV Germline	Chr1:68444673	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340748036	rs_2100827985	1 SubmittersRCV002004304
NM_000329.3(RPE65):c.12-1G>C	SNV Germline	Chr1:68448707	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA340750357	rs_1348031618	2 SubmittersRCV001963808 RCV004699598
NM_000329.3(RPE65):c.998+1G>A	SNV Germline	Chr1:68438941	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340744551	rs_1645879495	3 SubmittersRCV001993735 RCV003471214 RCV003773037
NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)	SNV Germline	Chr1:68444594	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340747768	rs_56021047	2 SubmittersRCV001999882 RCV004571710
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)	SNV Germline	Chr1:68429788	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA340740550	rs_2100804954	3 SubmittersRCV001963988 RCV005253993 RCV003471217
NM_000329.3(RPE65):c.644-2A>C	SNV Germline	Chr1:68439644	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340746085	rs_61752891	1 SubmittersRCV001935730
NM_000329.3(RPE65):c.725+2T>A	SNV Germline	Chr1:68439559	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340745901	rs_1355979496	2 SubmittersRCV001953857 RCV003471183
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)	SNV Germline	Chr1:68444533	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340747340	rs_1202384396	2 SubmittersRCV001953858 RCV003471184
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr)	SNV Germline	Chr1:68431116	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340741971	rs_1395763356	1 SubmittersRCV002030369
NM_000329.3(RPE65):c.1580A>G (p.His527Arg)	SNV Germline	Chr1:68429798	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340740585	rs_1194458561	3 SubmittersRCV001982688 RCV004571683 RCV004527438
NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)	SNV Germline	Chr1:68444882	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340748617	rs_2100828545	1 SubmittersRCV001942144
NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)	SNV Germline	Chr1:68444621	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340747891	rs_1645928294	1 SubmittersRCV002031094
NM_000329.3(RPE65):c.725+1G>A	SNV Germline	Chr1:68439560	Pathogenic/Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340745904	rs_1260969698	2 SubmittersRCV001941576 RCV003471147
NM_000329.3(RPE65):c.725+2T>C	SNV Germline	Chr1:68439559	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340745900	rs_1355979496	1 SubmittersRCV001958678
NM_000329.3(RPE65):c.938A>G (p.His313Arg)	SNV Germline	Chr1:68439002	Pathogenic	Leber congenital amaurosis 2 Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340744821	rs_1375943362	5 SubmittersRCV002226568 RCV003987987 RCV003101291 RCV004527444
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)	SNV Germline	Chr1:68438948	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA902335	rs_761471961	3 SubmittersRCV002278955 RCV003096295 RCV003471304
NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)	SNV Germline	Chr1:68446785	Pathogenic	Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340749087	rs_2523451761	1 SubmittersRCV002281669
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)	SNV Germline	Chr1:68438228	Conflicting classifications of pathogenicity	RPE65-related recessive retinopathy Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Conflicting Classifications	CA902299	rs_121917744	3 SubmittersRCV002466805 RCV004720366 RCV005227782
NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)	SNV Germline	Chr1:68439569	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340745922	rs_1366781286	1 SubmittersRCV003068133
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)	SNV Germline	Chr1:68438276	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis	Reviewed By Expert Panel	CA23569514	rs_936592713	4 SubmittersRCV003065733 RCV004572741 RCV004801943 RCV005239635
NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)	SNV Germline	Chr1:68448657	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340750196	rs_2523458378	1 SubmittersRCV003061518
NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)	SNV Germline	Chr1:68446824	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340749207	rs_61751282	1 SubmittersRCV003088739
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)	SNV Germline	Chr1:68444818	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340748262	rs_61752875	2 SubmittersRCV002634293 RCV005425068
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)	SNV Germline	Chr1:68444819	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA902547	rs_767478543	3 SubmittersRCV002634294 RCV005239705 RCV003465996
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)	SNV Germline	Chr1:68431329	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA23564019	rs_985047210	3 SubmittersRCV002770833 RCV005054423 RCV004794594
NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)	SNV Germline	Chr1:68431117	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340741973	rs_764189309	1 SubmittersRCV002824485
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)	SNV Germline	Chr1:68431327	Pathogenic/Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts	CA340742522	rs_1289316104	2 SubmittersRCV002829784 RCV005027984
NM_000329.3(RPE65):c.1243+1G>C	SNV Germline	Chr1:68431470	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340742783	rs_1421696563	2 SubmittersRCV002862290 RCV004571369
NM_000329.3(RPE65):c.999-2A>G	SNV Germline	Chr1:68438318	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340744503	rs_2523423130	1 SubmittersRCV002885100
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)	SNV Germline	Chr1:68444615	Pathogenic/Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340747879	rs_1422501788	2 SubmittersRCV002894779 RCV003465861
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)	SNV Germline	Chr1:68449896	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA902659	rs_748096417	3 SubmittersRCV003032078 RCV003465900 RCV003777039
NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)	SNV Germline	Chr1:68431351	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340742621	rs_1355323529	1 SubmittersRCV003059569
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)	SNV Germline	Chr1:68446836	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340749254	rs_2523452284	2 SubmittersRCV003133792 RCV003778716
NM_000329.3(RPE65):c.644-2A>G	SNV Germline	Chr1:68439644	Likely pathogenic	Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA340746084	rs_61752891	3 SubmittersRCV003226664 RCV003466042 RCV003779809
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)	SNV Germline	Chr1:68438227	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Conflicting Classifications	CA340744119	rs_1158240863	2 SubmittersRCV003324349 RCV005029982
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)	SNV Unknown	Chr1:68431170	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340742293	rs_2523401947	1 SubmittersRCV003466242
NM_000329.3(RPE65):c.1339-1G>C	SNV Unknown	Chr1:68431177	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340742323	rs_1480368460	1 SubmittersRCV003466246
NM_000329.3(RPE65):c.999-1G>T	SNV Unknown	Chr1:68438317	Pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340744496	rs_2523423126	1 SubmittersRCV003466247
NM_000329.3(RPE65):c.354-2A>G	SNV Germline	Chr1:68444674	Pathogenic	Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340748044	rs_2523445043	2 SubmittersRCV003466249 RCV004595864
NM_000329.3(RPE65):c.353+1G>A	SNV Unknown	Chr1:68444775	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340748075	rs_61752876	1 SubmittersRCV003466252
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)	SNV Germline	Chr1:68446747	Conflicting classifications of pathogenicity	Leber congenital amaurosis 2 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA340748974	rs_1645945392	2 SubmittersRCV003466254 RCV004818348
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)	SNV Unknown	Chr1:68429875	Pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340741228	rs_2523396663	1 SubmittersRCV003466255
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)	SNV Unknown	Chr1:68448682	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340750300	rs_1233702775	1 SubmittersRCV003466257
NM_000329.3(RPE65):c.859-1G>A	SNV Unknown	Chr1:68439082	Likely pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340745288	rs_2523425771	1 SubmittersRCV003466258
NM_000329.3(RPE65):c.1339-2A>G	SNV Germline	Chr1:68431178	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340742329	rs_1645823354	1 SubmittersRCV003781938
NM_000329.3(RPE65):c.725+1G>T	SNV Germline	Chr1:68439560	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340745902	rs_1260969698	1 SubmittersRCV003782954
NM_000329.3(RPE65):c.726-1G>A	SNV Germline	Chr1:68439324	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340745896	rs_2523426837	1 SubmittersRCV003780947
NM_000329.3(RPE65):c.12-2A>T	SNV Germline	Chr1:68448708	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340750359	rs_1400678650	1 SubmittersRCV003782613
NM_000329.3(RPE65):c.644-1G>A	SNV Germline	Chr1:68439643	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340746083	rs_61752892	1 SubmittersRCV003795314
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)	SNV Germline	Chr1:68431370	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA340742706	rs_2523403039	2 SubmittersRCV003790390 RCV005240933
NM_000329.3(RPE65):c.858+1G>C	SNV Germline	Chr1:68439190	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340745358	rs_61752899	1 SubmittersRCV003794227
NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)	SNV Germline	Chr1:68444660	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340747977	rs_1479443954	1 SubmittersRCV003806552
NM_000329.3(RPE65):c.55G>A (p.Val19Met)	SNV Germline	Chr1:68448663	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340750220	rs_1645959896	2 SubmittersRCV003805986 RCV004527467
NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)	SNV Germline	Chr1:68444793	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340748160	rs_1448061146	1 SubmittersRCV003801208
NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)	SNV Germline	Chr1:68431566	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA23564445	rs_974466164	1 SubmittersRCV003795144
NM_000329.3(RPE65):c.95-1G>C	SNV Germline	Chr1:68446861	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340749358	rs_2523452435	1 SubmittersRCV003800197
NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)	SNV Germline	Chr1:68439246	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340745704	rs_2523426491	1 SubmittersRCV003800685
NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)	SNV Germline	Chr1:68444615	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340747878	rs_1422501788	1 SubmittersRCV003809233
NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)	SNV Germline	Chr1:68439640	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA340746075	rs_1557600450	1 SubmittersRCV003804670
NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)	SNV Germline	Chr1:68440983	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340747196	rs_1294621553	1 SubmittersRCV003815220
NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)	SNV Germline	Chr1:68431321	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340742495	rs_763437650	1 SubmittersRCV003807241
NM_000329.3(RPE65):c.859-2A>C	SNV Germline	Chr1:68439083	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Single Submitter	CA340745298	rs_980844308	1 SubmittersRCV003805052
NM_000329.3(RPE65):c.434C>A (p.Ala145Asp)	SNV Germline	Chr1:68444592	Likely pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340747756	rs_2523444526	1 SubmittersRCV003881702
NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)	SNV Germline	Chr1:68439224	Pathogenic	Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340745588	rs_988133284	2 SubmittersRCV004573380 RCV003881705
NM_000329.3(RPE65):c.1420T>G (p.Ser474Ala)	SNV Germline	Chr1:68431095	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA340741835	rs_1645822647	1 SubmittersRCV003890693
NM_000329.3(RPE65):c.1444G>A (p.Asp482Asn)	SNV Germline	Chr1:68431071	Likely pathogenic	RPE65-related recessive retinopathy not specified	Reviewed By Expert Panel	CA340741708	rs_2100806802	2 SubmittersRCV004527499 RCV005241008
NM_000329.3(RPE65):c.16G>T (p.Glu6Ter)	SNV Germline	Chr1:68448702	Pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340750344	rs_1315607990	1 SubmittersRCV004527500
NM_000329.3(RPE65):c.997G>C (p.Gly333Arg)	SNV Germline	Chr1:68438943	Likely pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340744560	rs_1459522532	1 SubmittersRCV004527503
NM_000329.3(RPE65):c.1253T>A (p.Phe418Tyr)	SNV Germline	Chr1:68431367	Likely pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA340742683	rs_2523403024	1 SubmittersRCV004527504
NM_000329.3(RPE65):c.1398C>G (p.Tyr466Ter)	SNV Unknown	Chr1:68431117	Pathogenic	Leber congenital amaurosis 2	Criteria Provided Single Submitter		rs_764189309	1 SubmittersRCV004574793
NM_000329.3(RPE65):c.200T>A (p.Leu67Gln)	SNV Germline	Chr1:68446755	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814112
NM_000329.3(RPE65):c.540C>A (p.His180Gln)	SNV Germline	Chr1:68440956	Likely pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts		rs_2100821857	2 SubmittersRCV005038731 RCV004586291
NM_000329.3(RPE65):c.550G>T (p.Glu184Ter)	SNV Germline	Chr1:68440946	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004795275
NM_000329.3(RPE65):c.1021T>A (p.Leu341Ile)	SNV Germline	Chr1:68438294	Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004795276 RCV005218333
NM_000329.3(RPE65):c.912C>A (p.Tyr304Ter)	SNV Germline	Chr1:68439028	Pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel			1 SubmittersRCV004801982
NM_000329.3(RPE65):c.762G>T (p.Glu254Asp)	SNV Germline	Chr1:68439287	Likely pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel			1 SubmittersRCV004801983
NM_000329.3(RPE65):c.1244-1G>A	SNV Germline	Chr1:68431377	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Single Submitter			1 SubmittersRCV005029133
NM_000329.3(RPE65):c.442G>A (p.Glu148Lys)	SNV Germline	Chr1:68444584	Likely pathogenic	Leber congenital amaurosis	Criteria Provided Single Submitter			1 SubmittersRCV005087644
NM_000329.3(RPE65):c.179T>C (p.Leu60Pro)	SNV Germline	Chr1:68446776	Pathogenic	Leber congenital amaurosis	Criteria Provided Single Submitter			1 SubmittersRCV005088420
NM_000329.3(RPE65):c.954T>G (p.Tyr318Ter)	SNV Germline	Chr1:68438986	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter			1 SubmittersRCV005223665
NM_000329.3(RPE65):c.1129-1G>A	SNV Germline	Chr1:68431586	Likely pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter			1 SubmittersRCV005215380
NM_000329.3(RPE65):c.1579C>T (p.His527Tyr)	SNV Germline	Chr1:68429799	Pathogenic	Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel			2 SubmittersRCV005213186 RCV005426447
NM_000329.3(RPE65):c.1243+2T>A	SNV Germline	Chr1:68431469	Pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel			1 SubmittersRCV005255037
NM_000329.3(RPE65):c.1503T>G (p.Tyr501Ter)	SNV Germline	Chr1:68429875	Pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel			1 SubmittersRCV005255039
NM_000329.3(RPE65):c.864G>A (p.Trp288Ter)	SNV Germline	Chr1:68439076	Likely pathogenic	Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Criteria Provided Single Submitter			1 SubmittersRCV005393730
NM_000329.3(RPE65):c.1580A>C (p.His527Pro)	SNV Germline	Chr1:68429798	Likely pathogenic	RPE65-related recessive retinopathy	Reviewed By Expert Panel			1 SubmittersRCV005426975

NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr1:68439586

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA226577

rs_61752895

9 SubmittersRCV000013993 RCV000085219 RCV001236263 RCV001831567 RCV001376448 RCV003460467 RCV004794340

NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)

SNV
Germline

Chr1:68444858

Pathogenic

Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 2
RPE65-related disorder
Leber congenital amaurosis
Retinitis pigmentosa 20
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis
Abnormality of the eye
RPE65-related recessive retinopathy
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226531

rs_61752871

21 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001073556 RCV001250682 RCV001095690 RCV001257818 RCV001275337 RCV001813981 RCV004595852 RCV005031436

NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)

SNV
Germline

Chr1:68431160

Likely pathogenic

Retinitis pigmentosa 20
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
not specified
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226509

rs_62637004

7 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190 RCV005025051 RCV004801914

NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)

SNV
Germline

Chr1:68438228

Pathogenic

Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA256730

rs_121917744

9 SubmittersRCV000013996 RCV000815732 RCV001250693 RCV003460468 RCV001826460 RCV005025052

NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)

SNV
Germline

Chr1:68438293

Pathogenic

Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226472

rs_61752909

15 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV003764564 RCV001047062 RCV001831568 RCV004814898 RCV002496352

NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)

SNV
Germline

Chr1:68429835

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226519

rs_121917745

11 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV001826461 RCV000816506 RCV003887868 RCV003764565

NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)

SNV
Germline

Chr1:68438213

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related disorder
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226484

rs_62653011

16 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000787920 RCV001054423 RCV001275328 RCV000348257 RCV004814916 RCV005025077 RCV003764626

NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)

SNV
Germline

Chr1:68439033

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226589

rs_61752904

7 SubmittersRCV000022753 RCV000085231 RCV003764627 RCV002490403 RCV002513174

NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)

SNV
Germline

Chr1:68431328

Likely pathogenic

Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
RPE65-related disorder
Leber congenital amaurosis

Reviewed By Expert Panel

CA226500

rs_62636300

8 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003764628 RCV004732553 RCV003317042

NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)

SNV
Germline

Chr1:68438237

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226480

rs_62646883

3 SubmittersRCV000085147 RCV001854496 RCV004801916

NM_000329.3(RPE65):c.11+5G>A

SNV
Germline

Chr1:68449890

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
RPE65-related disorder
Inborn genetic diseases

Reviewed By Expert Panel

CA226483

rs_61751276

24 SubmittersRCV000022752 RCV000085149 RCV000505050 RCV001275342 RCV000524808 RCV000678614 RCV002498448 RCV003460766 RCV004732661 RCV004955275

NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)

SNV
Germline

Chr1:68438212

Likely pathogenic

Condition: not provided
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226485

rs_62653012

2 SubmittersRCV000085151 RCV003764785

NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)

SNV
Germline

Chr1:68446837

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226491

rs_61751281

11 SubmittersRCV000085155 RCV000132582 RCV001047503 RCV001275340 RCV001250675 RCV001074416 RCV002498450 RCV004527312

NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)

SNV
Germline

Chr1:68431491

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA226497

rs_62636298

5 SubmittersRCV000085159 RCV001041992 RCV001089894 RCV002509207

NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)

SNV
Germline

Chr1:68431371

Likely pathogenic

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Inborn genetic diseases
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Reviewed By Expert Panel

CA226499

rs_62636299

8 SubmittersRCV000085160 RCV001074061 RCV004767068 RCV001323215 RCV003466997 RCV003764786 RCV004955276 RCV005025143

NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)

SNV
Germline

Chr1:68431313

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA226505

rs_62637002

2 SubmittersRCV000085165

NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)

SNV
Germline

Chr1:68446824

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Autosomal recessive retinitis pigmentosa
RPE65-related disorder
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226506

rs_61751282

9 SubmittersRCV000085166 RCV000701390 RCV001250676 RCV001275338 RCV001808321 RCV001257816 RCV004528783 RCV005620901

NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)

SNV
Germline

Chr1:68431131

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA226513

rs_62637006

6 SubmittersRCV000085172 RCV001250694 RCV002513922 RCV001376503

NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)

SNV
Germline

Chr1:68431097

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226515

rs_62637007

6 SubmittersRCV000085173 RCV001250706 RCV003764787 RCV004786365

NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)

SNV
Germline

Chr1:68429927

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226517

rs_62653015

11 SubmittersRCV000085175 RCV001250703 RCV001826773 RCV001854497 RCV003764788 RCV005025144

NM_000329.3(RPE65):c.202C>T (p.His68Tyr)

SNV
Germline

Chr1:68446753

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226523

rs_61752866

4 SubmittersRCV000085179 RCV003466999 RCV005237530 RCV005425724

NM_000329.3(RPE65):c.235T>C (p.Tyr79His)

SNV
Germline

Chr1:68446720

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226528

rs_61752869

3 SubmittersRCV000085182 RCV003764790 RCV004801917

NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)

SNV
Germline

Chr1:68444857

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa
RPE65-related recessive retinopathy
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226533

rs_61752873

12 SubmittersRCV000085186 RCV002247485 RCV001061074 RCV001275336 RCV001731373 RCV003764791 RCV003242980 RCV004815048 RCV005031578

NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)

SNV
Germline

Chr1:68444857

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226534

rs_61752873

3 SubmittersRCV000085187 RCV001250683 RCV005425725

NM_000329.3(RPE65):c.283G>C (p.Glu95Gln)

SNV
Germline

Chr1:68444846

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA226535

rs_61752874

2 SubmittersRCV000085188

NM_000329.3(RPE65):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:68449904

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA226537

rs_281865285

6 SubmittersRCV000085190 RCV001376504 RCV001377675 RCV004815049 RCV005606645 RCV005025145

NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)

SNV
Germline

Chr1:68444825

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Single Submitter

CA226539

rs_62642584

2 SubmittersRCV000085191 RCV005031580

NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)

SNV
Germline

Chr1:68444825

Pathogenic

Condition: not provided
RPE65-related disorder
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226540

rs_62642584

11 SubmittersRCV000085192 RCV001249229 RCV000763389 RCV003467000 RCV001275333 RCV004815050 RCV003764793

NM_000329.3(RPE65):c.311G>T (p.Gly104Val)

SNV
Germline

Chr1:68444818

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226542

rs_61752875

3 SubmittersRCV000085193 RCV001588914 RCV005425726

NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)

SNV
Germline

Chr1:68444656

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Inborn genetic diseases
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226545

rs_61752877

13 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV003242981 RCV001275332 RCV003888467 RCV002490740 RCV003764794

NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)

SNV
Germline

Chr1:68444596

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226550

rs_61752880

4 SubmittersRCV000085198 RCV001854498 RCV004566978 RCV004595854

NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)

SNV
Germline

Chr1:68444582

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226553

rs_61752882

3 SubmittersRCV000085200 RCV001250685 RCV005620902

NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)

SNV
Germline

Chr1:68440997

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related disorder
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Reviewed By Expert Panel

CA226557

rs_61752883

11 SubmittersRCV000085203 RCV000678617 RCV001250708 RCV001831894 RCV000778252 RCV001245153 RCV004527316 RCV005031581

NM_000329.3(RPE65):c.544C>A (p.His182Asn)

SNV
Germline

Chr1:68440952

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226558

rs_61752884

3 SubmittersRCV000085204 RCV001250687

NM_000329.3(RPE65):c.544C>T (p.His182Tyr)

SNV
Germline

Chr1:68440952

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226559

rs_61752884

5 SubmittersRCV000085205 RCV001257821 RCV001388257 RCV004566979 RCV004527317

NM_000329.3(RPE65):c.644-2A>T

SNV
Unknown

Chr1:68439644

Pathogenic

Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226571

rs_61752891

2 SubmittersRCV000085214 RCV003467001

NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)

SNV
Germline

Chr1:68448653

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226576

rs_61751277

10 SubmittersRCV000085218 RCV001218527 RCV002222384 RCV003764796 RCV001250672

NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)

SNV
Germline

Chr1:68439571

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226579

rs_61752896

9 SubmittersRCV000085220 RCV001207227 RCV000678618 RCV005357534 RCV001831895 RCV003764797

NM_000329.3(RPE65):c.858+1G>A

SNV
Germline

Chr1:68439190

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226582

rs_61752899

3 SubmittersRCV000085223 RCV001250702 RCV001388254

NM_000329.3(RPE65):c.858+1G>T

SNV
Germline

Chr1:68439190

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226583

rs_61752899

3 SubmittersRCV000085224 RCV001270786 RCV002513924

NM_000329.3(RPE65):c.859G>T (p.Val287Phe)

SNV
Germline

Chr1:68439081

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226585

rs_281865289

4 SubmittersRCV000085226 RCV002226457 RCV004527320

NM_000329.3(RPE65):c.95-2A>T

SNV
Germline

Chr1:68446862

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226591

rs_61751279

14 SubmittersRCV000085232 RCV000668398 RCV001003189 RCV002498451 RCV003460771 RCV001074560 RCV001250674 RCV005252750

NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)

SNV
Germline

Chr1:68438988

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA226592

rs_61752905

6 SubmittersRCV000085233 RCV001089895 RCV001854499 RCV003323394

NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)

SNV
Germline

Chr1:68438951

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226599

rs_61752908

5 SubmittersRCV000085237 RCV001250691 RCV000808234 RCV005606646 RCV005620903

NM_000329.3(RPE65):c.168A>G (p.Pro56=)

SNV
Germline

Chr1:68446787

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA243145

rs_150260489

3 SubmittersRCV000177043 RCV001088492 RCV004816282

NM_000329.3(RPE65):c.726-2A>C

SNV
Germline

Chr1:68439325

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA10581648

rs_878853372

3 SubmittersRCV000225374 RCV003765455 RCV005252828

NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)

SNV
Germline

Chr1:68444798

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA10603953

rs_886042220

4 SubmittersRCV000288725 RCV004567825 RCV002519096 RCV003765588

NM_000329.3(RPE65):c.1243+10T>C

SNV
Germline

Chr1:68431461

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

CA902243

rs_548537552

3 SubmittersRCV000287911 RCV000352172 RCV000923552 RCV001196851

NM_000329.3(RPE65):c.267C>T (p.Tyr89=)

SNV
Germline

Chr1:68444862

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA902554

rs_372620785

2 SubmittersRCV000271691 RCV000384862 RCV001419413

NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)

SNV
Germline

Chr1:68439603

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10611418

rs_886046510

3 SubmittersRCV000265981 RCV000321010 RCV003888702

NM_000329.3(RPE65):c.1338+1G>A

SNV
Germline

Chr1:68431281

Pathogenic

Abnormality of vision
Abnormal electroretinogram
Congenital blindness
Retinal degeneration
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA16043370

rs_1057518922

6 SubmittersRCV000415360 RCV001198362 RCV001066256 RCV003470368 RCV004816644 RCV005033948 RCV005252881

NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)

SNV
Germline

Chr1:68446825

Pathogenic

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related disorder
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA902588

rs_368088025

13 SubmittersRCV000787883 RCV000416243 RCV003470371 RCV000528380 RCV001275339 RCV001249416 RCV002466496 RCV003889879

NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)

SNV
Germline

Chr1:68431376

Likely pathogenic

Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA16617183

rs_1064795255

3 SubmittersRCV000483168 RCV003766693 RCV005398695

NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)

SNV
Germline

Chr1:68431282

Pathogenic

Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742354

rs_1420672586

4 SubmittersRCV000515733 RCV001245608 RCV003766756

NM_000329.3(RPE65):c.1101A>G (p.Arg367=)

SNV
Germline

Chr1:68438214

Pathogenic

Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA418279061

rs_1553152989

6 SubmittersRCV000515747 RCV004527377 RCV001865522 RCV002248718

NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr1:68448644

Pathogenic

Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902628

rs_199683808

10 SubmittersRCV000504723 RCV001834621 RCV001250673 RCV001377674 RCV001724032 RCV002496962 RCV004527379

NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)

SNV
Germline

Chr1:68444607

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747862

rs_1191496583

4 SubmittersRCV000542372 RCV000754974 RCV003470756 RCV003767007

NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)

SNV
Germline

Chr1:68446740

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA340748948

rs_1553153597

2 SubmittersRCV000553292 RCV002287424

NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)

SNV
Germline

Chr1:68440940

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747108

rs_1553153243

1 SubmittersRCV000626100

NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)

SNV
Germline

Chr1:68438958

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA340744630

rs_1169420841

5 SubmittersRCV000672144 RCV004788098 RCV004801923 RCV005034264

NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)

SNV
Germline

Chr1:68439294

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy
not specified

Reviewed By Expert Panel

CA340745829

rs_1553153135

5 SubmittersRCV000672055 RCV001549804 RCV004527392 RCV004768542

NM_000329.3(RPE65):c.718G>T (p.Val240Phe)

SNV
Germline

Chr1:68439568

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA902422

rs_192907397

5 SubmittersRCV001244442 RCV000754973 RCV005034282 RCV003232070

NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)

SNV
Germline

Chr1:68446713

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa
Condition: not provided

Reviewed By Expert Panel

CA340748885

rs_1429137932

6 SubmittersRCV001098872 RCV001053470 RCV000754977 RCV004527393 RCV001098873 RCV001756143

NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)

SNV
Germline

Chr1:68431116

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741969

rs_1395763356

4 SubmittersRCV000678615 RCV001868293 RCV004702311 RCV004801924

NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)

SNV
Germline

Chr1:68444593

Likely pathogenic

Cone-rod dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747763

rs_767528365

2 SubmittersRCV000678616 RCV003768029

NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)

SNV
Germline

Chr1:68439224

Pathogenic

Congenital isolated adrenocorticotropic hormone deficiency
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745589

rs_988133284

5 SubmittersRCV000754599 RCV001382566 RCV001731903 RCV004817950 RCV004569407

NM_000329.3(RPE65):c.1451-2A>C

SNV
Unknown

Chr1:68429929

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340741550

rs_1557595199

1 SubmittersRCV000761520

NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)

SNV
Germline

Chr1:68444800

Pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748193

rs_1571170561

3 SubmittersRCV000787882 RCV002535759 RCV004595858

NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)

SNV
Germline

Chr1:68431509

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902254

rs_774130993

9 SubmittersRCV001089892 RCV001593012 RCV000817537 RCV001075233 RCV001830793 RCV005029504 RCV003461248

NM_000329.3(RPE65):c.942C>T (p.His314=)

SNV
Germline

Chr1:68438998

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA902340

rs_752875512

3 SubmittersRCV000952170 RCV001102428 RCV001102429 RCV001836036

NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)

SNV
Germline

Chr1:68431560

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related disorder
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902266

rs_201379753

5 SubmittersRCV000884725 RCV001098673 RCV004530925 RCV001098674 RCV003890011

NM_000329.3(RPE65):c.783G>T (p.Leu261=)

SNV
Germline

Chr1:68439266

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902396

rs_188493184

4 SubmittersRCV000922726 RCV001098759 RCV001098760 RCV001275284 RCV003890070

NM_000329.3(RPE65):c.675C>A (p.Ile225=)

SNV
Germline

Chr1:68439611

Pathogenic

Condition: not provided
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA418281644

rs_114379164

2 SubmittersRCV000920758 RCV003768834

NM_000329.3(RPE65):c.1338+8A>G

SNV
Germline

Chr1:68431274

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA902206

rs_777211540

2 SubmittersRCV000912094 RCV001102319 RCV001102320

NM_000329.3(RPE65):c.95-10T>A

SNV
Germline

Chr1:68446870

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA902601

rs_547374432

4 SubmittersRCV000926497 RCV001100688 RCV001100687 RCV001729747

NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)

SNV
Germline

Chr1:68431085

Pathogenic/Likely pathogenic

Retinitis pigmentosa 87 with choroidal involvement
RPE65-related disorder
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Retinitis pigmentosa 20
Neurodevelopmental disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340741778

rs_1571158279

7 SubmittersRCV000927801 RCV001034696 RCV001068036 RCV001074701 RCV001376263 RCV002279647 RCV003117646

NM_000329.3(RPE65):c.375A>G (p.Gly125=)

SNV
Germline

Chr1:68444651

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902518

rs_992113946

4 SubmittersRCV000933065 RCV001097115 RCV001097116 RCV001275287 RCV003890087

NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)

SNV
Germline

Chr1:68429795

Likely pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340740566

rs_1193631220

4 SubmittersRCV000986326 RCV005427492

NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)

SNV
Germline

Chr1:68431471

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340742798

rs_1571158755

2 SubmittersRCV000986327 RCV001858636

NM_000329.3(RPE65):c.1004A>T (p.Glu335Val)

SNV
Unknown

Chr1:68438311

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340744471

rs_1571164534

1 SubmittersRCV000986329

NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)

SNV
Germline

Chr1:68440936

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related disorder
Leber congenital amaurosis
Retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902468

rs_752058510

7 SubmittersRCV000986330 RCV001219364 RCV001585895 RCV002255100 RCV003324538 RCV003324537 RCV003769292

NM_000329.3(RPE65):c.722A>T (p.His241Leu)

SNV
Germline

Chr1:68439564

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA340745914

rs_1557600322

1 SubmittersRCV001003187

NM_000329.3(RPE65):c.227A>C (p.His76Pro)

SNV
Germline

Chr1:68446728

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA340748920

rs_1571172233

1 SubmittersRCV001003188

NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr1:68438231

Pathogenic

Autism
Global developmental delay
Retinal dystrophy
Rod-cone dystrophy
Nystagmus
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340744135

rs_1571164333

2 SubmittersRCV001003571 RCV004595860

NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)

SNV
Germline

Chr1:68429927

Pathogenic

Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA902151

rs_62653015

4 SubmittersRCV001199757 RCV004527406 RCV003769401

NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)

SNV
Germline

Chr1:68440879

Likely pathogenic

Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA902456

rs_768445391

5 SubmittersRCV001029769 RCV001073324 RCV001208105 RCV001836068 RCV005036298

NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)

SNV
Germline

Chr1:68431070

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902169

rs_749242996

3 SubmittersRCV001054425 RCV001559438 RCV005253695

NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)

SNV
Germline

Chr1:68431319

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA340742486

rs_34627040

5 SubmittersRCV001054822 RCV001250697 RCV001827346 RCV004527410 RCV005623082

NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)

SNV
Germline

Chr1:68440989

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747211

rs_1645898563

1 SubmittersRCV001039691

NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe)

SNV
Germline

Chr1:68431311

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA340742451

rs_1645824260

1 SubmittersRCV001074419

NM_000329.3(RPE65):c.1040G>A (p.Arg347His)

SNV
Germline

Chr1:68438275

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902309

rs_562037932

4 SubmittersRCV001073373 RCV002554658 RCV003469271 RCV004801928

NM_000329.3(RPE65):c.331C>A (p.Pro111Thr)

SNV
Germline

Chr1:68444798

Likely pathogenic

Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748185

rs_886042220

2 SubmittersRCV001074561 RCV003768999

NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)

SNV
Germline

Chr1:68444827

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340748300

rs_1444234037

5 SubmittersRCV001073555 RCV001089888 RCV002554669 RCV004801929 RCV005408682

NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)

SNV
Germline

Chr1:68431135

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742114

rs_1645823028

4 SubmittersRCV001201914 RCV001089890 RCV002511032 RCV003769013

NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)

SNV
Germline

Chr1:68431292

Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742376

rs_1645824187

4 SubmittersRCV001102321 RCV001862663 RCV001089891 RCV003769014

NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)

SNV
Germline

Chr1:68444542

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA902499

rs_774309607

4 SubmittersRCV001206190 RCV004801930 RCV005036393 RCV001089896

NM_000329.3(RPE65):c.354G>T (p.Arg118Ser)

SNV
Germline

Chr1:68444672

Pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748033

rs_1015895028

2 SubmittersRCV001089893 RCV004595861

NM_000329.3(RPE65):c.807T>C (p.Ser269=)

SNV
Germline

Chr1:68439242

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA902391

rs_774896870

2 SubmittersRCV001098757 RCV001098758 RCV001405985

NM_000329.3(RPE65):c.576T>A (p.Ile192=)

SNV
Germline

Chr1:68440920

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA23572062

rs_747122876

3 SubmittersRCV001100590 RCV001100591 RCV003769066 RCV005243469

NM_000329.3(RPE65):c.366C>T (p.Tyr122=)

SNV
Germline

Chr1:68444660

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA418282754

rs_1479443954

2 SubmittersRCV001097117 RCV001097118 RCV001444955

NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)

SNV
Germline

Chr1:68439023

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340744901

rs_1171545533

4 SubmittersRCV001212438 RCV003469354 RCV004801931 RCV005408752

NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)

SNV
Germline

Chr1:68439303

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902404

rs_373652862

3 SubmittersRCV001206748 RCV001833815 RCV003469337

NM_000329.3(RPE65):c.643+2T>A

SNV
Germline

Chr1:68440851

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746737

rs_1645896934

2 SubmittersRCV001210075 RCV003469347

NM_000329.3(RPE65):c.726-2A>T

SNV
Germline

Chr1:68439325

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340745897

rs_878853372

6 SubmittersRCV001250705 RCV001224577 RCV004813910 RCV005036492 RCV005253749

NM_000329.3(RPE65):c.536C>T (p.Ala179Val)

SNV
Germline

Chr1:68440960

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747151

rs_1645898265

2 SubmittersRCV001238369 RCV003770275

NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)

SNV
Germline

Chr1:68444593

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Conflicting Classifications

CA902508

rs_767528365

10 SubmittersRCV001244171 RCV001701309 RCV001836228 RCV004813999 RCV004813998 RCV005253763 RCV005036527

NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)

SNV
Germline

Chr1:68444605

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747854

rs_1469460289

1 SubmittersRCV001245546

NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)

SNV
Germline

Chr1:68446831

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA902590

rs_750724065

5 SubmittersRCV001243775 RCV001829042 RCV001773551 RCV004801934 RCV004556080

NM_000329.3(RPE65):c.11+2T>G

SNV
Germline

Chr1:68449893

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902657

rs_778768116

3 SubmittersRCV001230466 RCV001833994 RCV003469408

NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)

SNV
Germline

Chr1:68438947

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340744580

rs_1645879569

4 SubmittersRCV001250692 RCV001257822 RCV002570429 RCV004798894

NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)

SNV
Germline

Chr1:68439017

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

CA340744884

rs_1645880232

1 SubmittersRCV001250690

NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)

SNV
Germline

Chr1:68439026

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

CA340744912

rs_1645880293

1 SubmittersRCV001250689

NM_000329.3(RPE65):c.770T>G (p.Val257Gly)

SNV
Germline

Chr1:68439279

Likely pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340745797

rs_1645883131

2 SubmittersRCV001250709 RCV005621090

NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)

SNV
Germline

Chr1:68439580

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745946

rs_1645885900

2 SubmittersRCV001250699 RCV001390652

NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)

SNV
Germline

Chr1:68440925

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747062

rs_1189903735

3 SubmittersRCV001250686 RCV003770301 RCV005621087

NM_000329.3(RPE65):c.407T>G (p.Val136Gly)

SNV
Germline

Chr1:68444619

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

CA340747886

rs_1645928251

1 SubmittersRCV001250696

NM_000329.3(RPE65):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr1:68446765

Pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340749039

rs_1645945599

2 SubmittersRCV001250680 RCV005253768

NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)

SNV
Germline

Chr1:68446768

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

CA340749045

rs_1645945643

1 SubmittersRCV001250679

NM_000329.3(RPE65):c.246-11A>G

SNV
Germline

Chr1:68444894

Likely pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA23575475

rs_905365719

7 SubmittersRCV001250681 RCV002307711 RCV002570428 RCV002480862 RCV003770300 RCV004814022

NM_000329.3(RPE65):c.1129-2A>G

SNV
Germline

Chr1:68431587

Pathogenic

Autosomal recessive retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340743482

rs_1645826941

2 SubmittersRCV001257815 RCV004801935

NM_000329.3(RPE65):c.515T>A (p.Val172Asp)

SNV
Germline

Chr1:68440981

Likely pathogenic

Autosomal recessive retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747191

rs_1645898413

2 SubmittersRCV001257820 RCV005253773

NM_000329.3(RPE65):c.310G>C (p.Gly104Arg)

SNV
Germline

Chr1:68444819

Likely pathogenic

Autosomal recessive retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748268

rs_767478543

2 SubmittersRCV001257819 RCV005428156

NM_000329.3(RPE65):c.209T>C (p.Phe70Ser)

SNV
Germline

Chr1:68446746

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340748969

rs_1645945363

3 SubmittersRCV001268583 RCV005225342 RCV005606796

NM_000329.3(RPE65):c.1243+1G>A

SNV
Germline

Chr1:68431470

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340742782

rs_1421696563

2 SubmittersRCV001378085 RCV005001218

NM_000329.3(RPE65):c.496-1G>A

SNV
Germline

Chr1:68441001

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747238

rs_2100821984

2 SubmittersRCV001379142 RCV003462960

NM_000329.3(RPE65):c.354-1G>A

SNV
Germline

Chr1:68444673

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA340748038

rs_2100827985

2 SubmittersRCV001377276 RCV001826126

NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)

SNV
Germline

Chr1:68444785

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA340748119

rs_1645929674

4 SubmittersRCV001377673 RCV003469629 RCV004596449 RCV005237765

NM_000329.3(RPE65):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:68449903

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340750383

rs_1357241537

2 SubmittersRCV001379122 RCV004801002

NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)

SNV
Germline

Chr1:68431106

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340741897

rs_774211361

3 SubmittersRCV001383020 RCV003128763 RCV003469687

NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)

SNV
Germline

Chr1:68431116

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741972

rs_1395763356

3 SubmittersRCV001381888 RCV003469666 RCV003771239

NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter)

SNV
Germline

Chr1:68438287

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340744362

rs_2100817136

1 SubmittersRCV001384746

NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)

SNV
Germline

Chr1:68439028

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340744922

rs_2100818575

2 SubmittersRCV001382384 RCV003469676

NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)

SNV
Germline

Chr1:68440859

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746765

rs_777966849

2 SubmittersRCV001389735 RCV003469763

NM_000329.3(RPE65):c.545A>G (p.His182Arg)

SNV
Germline

Chr1:68440951

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340747132

rs_1459110114

3 SubmittersRCV001388256 RCV004527424 RCV003469740

NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)

SNV
Germline

Chr1:68446755

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340749010

rs_1344724754

4 SubmittersRCV001380404 RCV003469648 RCV003771233 RCV005606818

NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)

SNV
Germline

Chr1:68448624

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902623

rs_768448761

3 SubmittersRCV001380405 RCV001826156 RCV003469649

NM_000329.3(RPE65):c.938A>C (p.His313Pro)

SNV
Germline

Chr1:68439002

Likely pathogenic

Abnormality of the eye

Criteria Provided
Single Submitter

CA340744823

rs_1375943362

1 SubmittersRCV001814345

NM_000329.3(RPE65):c.1306G>A (p.Gly436Arg)

SNV
Germline

Chr1:68431314

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA340742464

rs_2100807345

1 SubmittersRCV001576822

NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)

SNV
Germline

Chr1:68446812

Likely pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340749160

rs_2100831413

4 SubmittersRCV001591854 RCV003771781 RCV004690118 RCV005038270

NM_000329.3(RPE65):c.693C>A (p.Cys231Ter)

SNV
Germline

Chr1:68439593

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745977

rs_2100819756

1 SubmittersRCV001591855

NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter)

SNV
Germline

Chr1:68431485

Pathogenic

Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340742913

rs_1235881190

1 SubmittersRCV001591858

NM_000329.3(RPE65):c.93A>G (p.Thr31=)

SNV
Germline

Chr1:68448625

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA418284162

rs_2100834154

2 SubmittersRCV001682631

NM_000329.3(RPE65):c.1451-1G>A

SNV
Germline

Chr1:68429928

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741548

rs_1317871521

5 SubmittersRCV001775532 RCV003120686 RCV003470896 RCV004527431

NM_000329.3(RPE65):c.354-1G>T

SNV
Germline

Chr1:68444673

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340748036

rs_2100827985

1 SubmittersRCV002004304

NM_000329.3(RPE65):c.12-1G>C

SNV
Germline

Chr1:68448707

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340750357

rs_1348031618

2 SubmittersRCV001963808 RCV004699598

NM_000329.3(RPE65):c.998+1G>A

SNV
Germline

Chr1:68438941

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340744551

rs_1645879495

3 SubmittersRCV001993735 RCV003471214 RCV003773037

NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)

SNV
Germline

Chr1:68444594

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747768

rs_56021047

2 SubmittersRCV001999882 RCV004571710

NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)

SNV
Germline

Chr1:68429788

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340740550

rs_2100804954

3 SubmittersRCV001963988 RCV005253993 RCV003471217

NM_000329.3(RPE65):c.644-2A>C

SNV
Germline

Chr1:68439644

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746085

rs_61752891

1 SubmittersRCV001935730

NM_000329.3(RPE65):c.725+2T>A

SNV
Germline

Chr1:68439559

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745901

rs_1355979496

2 SubmittersRCV001953857 RCV003471183

NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr1:68444533

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747340

rs_1202384396

2 SubmittersRCV001953858 RCV003471184

NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr)

SNV
Germline

Chr1:68431116

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340741971

rs_1395763356

1 SubmittersRCV002030369

NM_000329.3(RPE65):c.1580A>G (p.His527Arg)

SNV
Germline

Chr1:68429798

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340740585

rs_1194458561

3 SubmittersRCV001982688 RCV004571683 RCV004527438

NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)

SNV
Germline

Chr1:68444882

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340748617

rs_2100828545

1 SubmittersRCV001942144

NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)

SNV
Germline

Chr1:68444621

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747891

rs_1645928294

1 SubmittersRCV002031094

NM_000329.3(RPE65):c.725+1G>A

SNV
Germline

Chr1:68439560

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745904

rs_1260969698

2 SubmittersRCV001941576 RCV003471147

NM_000329.3(RPE65):c.725+2T>C

SNV
Germline

Chr1:68439559

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745900

rs_1355979496

1 SubmittersRCV001958678

NM_000329.3(RPE65):c.938A>G (p.His313Arg)

SNV
Germline

Chr1:68439002

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340744821

rs_1375943362

5 SubmittersRCV002226568 RCV003987987 RCV003101291 RCV004527444

NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)

SNV
Germline

Chr1:68438948

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902335

rs_761471961

3 SubmittersRCV002278955 RCV003096295 RCV003471304

NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)

SNV
Germline

Chr1:68446785

Pathogenic

Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340749087

rs_2523451761

1 SubmittersRCV002281669

NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)

SNV
Germline

Chr1:68438228

Conflicting classifications of pathogenicity

RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

CA902299

rs_121917744

3 SubmittersRCV002466805 RCV004720366 RCV005227782

NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)

SNV
Germline

Chr1:68439569

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745922

rs_1366781286

1 SubmittersRCV003068133

NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)

SNV
Germline

Chr1:68438276

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA23569514

rs_936592713

4 SubmittersRCV003065733 RCV004572741 RCV004801943 RCV005239635

NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)

SNV
Germline

Chr1:68448657

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340750196

rs_2523458378

1 SubmittersRCV003061518

NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)

SNV
Germline

Chr1:68446824

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340749207

rs_61751282

1 SubmittersRCV003088739

NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)

SNV
Germline

Chr1:68444818

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748262

rs_61752875

2 SubmittersRCV002634293 RCV005425068

NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)

SNV
Germline

Chr1:68444819

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902547

rs_767478543

3 SubmittersRCV002634294 RCV005239705 RCV003465996

NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)

SNV
Germline

Chr1:68431329

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA23564019

rs_985047210

3 SubmittersRCV002770833 RCV005054423 RCV004794594

NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)

SNV
Germline

Chr1:68431117

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340741973

rs_764189309

1 SubmittersRCV002824485

NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)

SNV
Germline

Chr1:68431327

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340742522

rs_1289316104

2 SubmittersRCV002829784 RCV005027984

NM_000329.3(RPE65):c.1243+1G>C

SNV
Germline

Chr1:68431470

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340742783

rs_1421696563

2 SubmittersRCV002862290 RCV004571369

NM_000329.3(RPE65):c.999-2A>G

SNV
Germline

Chr1:68438318

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340744503

rs_2523423130

1 SubmittersRCV002885100

NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)

SNV
Germline

Chr1:68444615

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747879

rs_1422501788

2 SubmittersRCV002894779 RCV003465861

NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr1:68449896

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902659

rs_748096417

3 SubmittersRCV003032078 RCV003465900 RCV003777039

NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)

SNV
Germline

Chr1:68431351

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340742621

rs_1355323529

1 SubmittersRCV003059569

NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)

SNV
Germline

Chr1:68446836

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340749254

rs_2523452284

2 SubmittersRCV003133792 RCV003778716

NM_000329.3(RPE65):c.644-2A>G

SNV
Germline

Chr1:68439644

Likely pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746084

rs_61752891

3 SubmittersRCV003226664 RCV003466042 RCV003779809

NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)

SNV
Germline

Chr1:68438227

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Conflicting Classifications

CA340744119

rs_1158240863

2 SubmittersRCV003324349 RCV005029982

NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)

SNV
Unknown

Chr1:68431170

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340742293

rs_2523401947

1 SubmittersRCV003466242

NM_000329.3(RPE65):c.1339-1G>C

SNV
Unknown

Chr1:68431177

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340742323

rs_1480368460

1 SubmittersRCV003466246

NM_000329.3(RPE65):c.999-1G>T

SNV
Unknown

Chr1:68438317

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340744496

rs_2523423126

1 SubmittersRCV003466247

NM_000329.3(RPE65):c.354-2A>G

SNV
Germline

Chr1:68444674

Pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748044

rs_2523445043

2 SubmittersRCV003466249 RCV004595864

NM_000329.3(RPE65):c.353+1G>A

SNV
Unknown

Chr1:68444775

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340748075

rs_61752876

1 SubmittersRCV003466252

NM_000329.3(RPE65):c.208T>G (p.Phe70Val)

SNV
Germline

Chr1:68446747

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA340748974

rs_1645945392

2 SubmittersRCV003466254 RCV004818348

NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)

SNV
Unknown

Chr1:68429875

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340741228

rs_2523396663

1 SubmittersRCV003466255

NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)

SNV
Unknown

Chr1:68448682

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340750300

rs_1233702775

1 SubmittersRCV003466257

NM_000329.3(RPE65):c.859-1G>A

SNV
Unknown

Chr1:68439082

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745288

rs_2523425771

1 SubmittersRCV003466258

NM_000329.3(RPE65):c.1339-2A>G

SNV
Germline

Chr1:68431178

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340742329

rs_1645823354

1 SubmittersRCV003781938

NM_000329.3(RPE65):c.725+1G>T

SNV
Germline

Chr1:68439560

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745902

rs_1260969698

1 SubmittersRCV003782954

NM_000329.3(RPE65):c.726-1G>A

SNV
Germline

Chr1:68439324

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745896

rs_2523426837

1 SubmittersRCV003780947

NM_000329.3(RPE65):c.12-2A>T

SNV
Germline

Chr1:68448708

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340750359

rs_1400678650

1 SubmittersRCV003782613

NM_000329.3(RPE65):c.644-1G>A

SNV
Germline

Chr1:68439643

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746083

rs_61752892

1 SubmittersRCV003795314

NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)

SNV
Germline

Chr1:68431370

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340742706

rs_2523403039

2 SubmittersRCV003790390 RCV005240933

NM_000329.3(RPE65):c.858+1G>C

SNV
Germline

Chr1:68439190

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745358

rs_61752899

1 SubmittersRCV003794227

NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)

SNV
Germline

Chr1:68444660

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747977

rs_1479443954

1 SubmittersRCV003806552

NM_000329.3(RPE65):c.55G>A (p.Val19Met)

SNV
Germline

Chr1:68448663

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340750220

rs_1645959896

2 SubmittersRCV003805986 RCV004527467

NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)

SNV
Germline

Chr1:68444793

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340748160

rs_1448061146

1 SubmittersRCV003801208

NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)

SNV
Germline

Chr1:68431566

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA23564445

rs_974466164

1 SubmittersRCV003795144

NM_000329.3(RPE65):c.95-1G>C

SNV
Germline

Chr1:68446861

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340749358

rs_2523452435

1 SubmittersRCV003800197

NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)

SNV
Germline

Chr1:68439246

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745704

rs_2523426491

1 SubmittersRCV003800685

NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)

SNV
Germline

Chr1:68444615

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747878

rs_1422501788

1 SubmittersRCV003809233

NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)

SNV
Germline

Chr1:68439640

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746075

rs_1557600450

1 SubmittersRCV003804670

NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)

SNV
Germline

Chr1:68440983

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747196

rs_1294621553

1 SubmittersRCV003815220

NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)

SNV
Germline

Chr1:68431321

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340742495

rs_763437650

1 SubmittersRCV003807241

NM_000329.3(RPE65):c.859-2A>C

SNV
Germline

Chr1:68439083

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745298

rs_980844308

1 SubmittersRCV003805052

NM_000329.3(RPE65):c.434C>A (p.Ala145Asp)

SNV
Germline

Chr1:68444592

Likely pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747756

rs_2523444526

1 SubmittersRCV003881702

NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)

SNV
Germline

Chr1:68439224

Pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340745588

rs_988133284

2 SubmittersRCV004573380 RCV003881705

NM_000329.3(RPE65):c.1420T>G (p.Ser474Ala)

SNV
Germline

Chr1:68431095

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA340741835

rs_1645822647

1 SubmittersRCV003890693

NM_000329.3(RPE65):c.1444G>A (p.Asp482Asn)

SNV
Germline

Chr1:68431071

Likely pathogenic

RPE65-related recessive retinopathy
not specified

Reviewed By Expert Panel

CA340741708

rs_2100806802

2 SubmittersRCV004527499 RCV005241008

NM_000329.3(RPE65):c.16G>T (p.Glu6Ter)

SNV
Germline

Chr1:68448702

Pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340750344

rs_1315607990

1 SubmittersRCV004527500

NM_000329.3(RPE65):c.997G>C (p.Gly333Arg)

SNV
Germline

Chr1:68438943

Likely pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340744560

rs_1459522532

1 SubmittersRCV004527503

NM_000329.3(RPE65):c.1253T>A (p.Phe418Tyr)

SNV
Germline

Chr1:68431367

Likely pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742683

rs_2523403024

1 SubmittersRCV004527504

NM_000329.3(RPE65):c.1398C>G (p.Tyr466Ter)

SNV
Unknown

Chr1:68431117

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_764189309

1 SubmittersRCV004574793

NM_000329.3(RPE65):c.200T>A (p.Leu67Gln)

SNV
Germline

Chr1:68446755

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814112

NM_000329.3(RPE65):c.540C>A (p.His180Gln)

SNV
Germline

Chr1:68440956

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2100821857

2 SubmittersRCV005038731 RCV004586291

NM_000329.3(RPE65):c.550G>T (p.Glu184Ter)

SNV
Germline

Chr1:68440946

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004795275

NM_000329.3(RPE65):c.1021T>A (p.Leu341Ile)

SNV
Germline

Chr1:68438294

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795276 RCV005218333

NM_000329.3(RPE65):c.912C>A (p.Tyr304Ter)

SNV
Germline

Chr1:68439028

Pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

1 SubmittersRCV004801982

NM_000329.3(RPE65):c.762G>T (p.Glu254Asp)

SNV
Germline

Chr1:68439287

Likely pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

1 SubmittersRCV004801983

NM_000329.3(RPE65):c.1244-1G>A

SNV
Germline

Chr1:68431377

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Single Submitter

1 SubmittersRCV005029133

NM_000329.3(RPE65):c.442G>A (p.Glu148Lys)

SNV
Germline

Chr1:68444584

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005087644

NM_000329.3(RPE65):c.179T>C (p.Leu60Pro)

SNV
Germline

Chr1:68446776

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005088420

NM_000329.3(RPE65):c.954T>G (p.Tyr318Ter)

SNV
Germline

Chr1:68438986

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005223665

NM_000329.3(RPE65):c.1129-1G>A

SNV
Germline

Chr1:68431586

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005215380

NM_000329.3(RPE65):c.1579C>T (p.His527Tyr)

SNV
Germline

Chr1:68429799

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

2 SubmittersRCV005213186 RCV005426447

NM_000329.3(RPE65):c.1243+2T>A

SNV
Germline

Chr1:68431469

Pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

1 SubmittersRCV005255037

NM_000329.3(RPE65):c.1503T>G (p.Tyr501Ter)

SNV
Germline

Chr1:68429875

Pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

1 SubmittersRCV005255039

NM_000329.3(RPE65):c.864G>A (p.Trp288Ter)

SNV
Germline

Chr1:68439076

Likely pathogenic

Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005393730

NM_000329.3(RPE65):c.1580A>C (p.His527Pro)

SNV
Germline

Chr1:68429798

Likely pathogenic

RPE65-related recessive retinopathy

Reviewed By Expert Panel

1 SubmittersRCV005426975