ClinVar for MedGen (Select 348473) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24281151.	NM_000329.3(RPE65):c.37A>G (p.Lys13Glu) GRCh37: Chr1:68914364 GRCh38: Chr1:68448681	RPE65	K13E	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 24229022.	NC_000001.10:g.(?_68895459)_(68915588_?)dup GRCh37: Chr1:68895459-68915588	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 24229013.	NC_000001.10:g.(?_68910194)_(68912563_?)del GRCh37: Chr1:68910194-68912563	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Jun 5, 2022)	criteria provided, single submitter
Select item 24182324.	NM_000329.3(RPE65):c.166C>T (p.Pro56Ser) GRCh37: Chr1:68912472 GRCh38: Chr1:68446789	RPE65	P56S	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 22027705.	NM_000329.3(RPE65):c.310G>A (p.Gly104Ser) GRCh37: Chr1:68910502 GRCh38: Chr1:68444819	RPE65	G104S, G12S	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 22027696.	NM_000329.3(RPE65):c.311G>A (p.Gly104Asp) GRCh37: Chr1:68910501 GRCh38: Chr1:68444818	RPE65	G104D, G12D	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Aug 17, 2022)	criteria provided, single submitter
Select item 22027687.	NM_000329.3(RPE65):c.726-3C>A GRCh37: Chr1:68905009 GRCh38: Chr1:68439326	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 22016138.	NM_000329.3(RPE65):c.1215T>A (p.Pro405=) GRCh37: Chr1:68897182 GRCh38: Chr1:68431499	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 21996649.	NM_000329.3(RPE65):c.1473G>A (p.Val491=) GRCh37: Chr1:68895588 GRCh38: Chr1:68429905	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 219903910.	NM_000329.3(RPE65):c.1359A>T (p.Lys453Asn) GRCh37: Chr1:68896839 GRCh38: Chr1:68431156	RPE65	K417N, K361N, K453N	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 219817711.	NM_000329.3(RPE65):c.1450+3A>G GRCh37: Chr1:68896745 GRCh38: Chr1:68431062	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Jan 19, 2021)	criteria provided, single submitter
Select item 219668512.	NM_000329.3(RPE65):c.37A>C (p.Lys13Gln) GRCh37: Chr1:68914364 GRCh38: Chr1:68448681	RPE65	K13Q	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219476213.	NM_000329.3(RPE65):c.1265A>G (p.Asn422Ser) GRCh37: Chr1:68897038 GRCh38: Chr1:68431355	RPE65	N422S, N330S, N386S	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 218850114.	NM_000329.3(RPE65):c.672_673del (p.Glu224fs) GRCh37: Chr1:68905296-68905297 GRCh38: Chr1:68439613-68439614	RPE65	E224fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 217098115.	NM_000329.3(RPE65):c.131G>C (p.Arg44Pro) GRCh37: Chr1:68912507 GRCh38: Chr1:68446824	RPE65	R44P	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 216931816.	NM_000329.3(RPE65):c.11+17G>A GRCh37: Chr1:68915561 GRCh38: Chr1:68449878	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 216889317.	NM_000329.3(RPE65):c.1305T>C (p.Tyr435=) GRCh37: Chr1:68896998 GRCh38: Chr1:68431315	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 216849018.	NM_000329.3(RPE65):c.859-19A>G GRCh37: Chr1:68904783 GRCh38: Chr1:68439100	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 216697319.	NM_000329.3(RPE65):c.851C>T (p.Thr284Ile) GRCh37: Chr1:68904881 GRCh38: Chr1:68439198	RPE65	T284I, T248I, T192I	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 216620620.	NM_000329.3(RPE65):c.643+18T>C GRCh37: Chr1:68906518 GRCh38: Chr1:68440835	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 216531221.	NM_000329.3(RPE65):c.1244-19C>A GRCh37: Chr1:68897078 GRCh38: Chr1:68431395	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 216252222.	NM_000329.3(RPE65):c.1209G>A (p.Leu403=) GRCh37: Chr1:68897188 GRCh38: Chr1:68431505	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216221023.	NM_000329.3(RPE65):c.101T>C (p.Ile34Thr) GRCh37: Chr1:68912537 GRCh38: Chr1:68446854	RPE65	I34T	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 216185024.	NM_000329.3(RPE65):c.1213C>G (p.Pro405Ala) GRCh37: Chr1:68897184 GRCh38: Chr1:68431501	RPE65	P313A, P405A, P369A	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 216119725.	NM_000329.3(RPE65):c.371G>A (p.Arg124Gln) GRCh37: Chr1:68910338 GRCh38: Chr1:68444655	RPE65	R124Q, R32Q, R88Q	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 216110426.	NM_000329.3(RPE65):c.78C>T (p.Leu26=) GRCh37: Chr1:68914323 GRCh38: Chr1:68448640	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 215813327.	NM_000329.3(RPE65):c.94+13C>T GRCh37: Chr1:68914294 GRCh38: Chr1:68448611	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 215700928.	NM_000329.3(RPE65):c.1115T>C (p.Leu372Ser) GRCh37: Chr1:68903883 GRCh38: Chr1:68438200	RPE65	L336S, L372S, L280S	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 215468729.	NM_000329.3(RPE65):c.1088C>A (p.Pro363His) GRCh37: Chr1:68903910 GRCh38: Chr1:68438227	RPE65	P327H, P271H, P363H	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 215187830.	NM_000329.3(RPE65):c.61G>T (p.Glu21Ter) GRCh37: Chr1:68914340 GRCh38: Chr1:68448657	RPE65	E21*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 8, 2022)	criteria provided, single submitter
Select item 215180631.	NM_000329.3(RPE65):c.245+18G>A GRCh37: Chr1:68912375 GRCh38: Chr1:68446692	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 215139232.	NM_000329.3(RPE65):c.902A>C (p.Asn301Thr) GRCh37: Chr1:68904721 GRCh38: Chr1:68439038	RPE65	N265T, N209T, N301T	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 214993333.	NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys) GRCh37: Chr1:68903959 GRCh38: Chr1:68438276	RPE65	R347C, R255C, R311C	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 214939434.	NM_000329.3(RPE65):c.528G>C (p.Gly176=) GRCh37: Chr1:68906651 GRCh38: Chr1:68440968	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 214393435.	NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter) GRCh37: Chr1:68905252 GRCh38: Chr1:68439569	RPE65	Y239, Y203, Y147*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 214335636.	NM_000329.3(RPE65):c.802T>A (p.Trp268Arg) GRCh37: Chr1:68904930 GRCh38: Chr1:68439247	RPE65	W232R, W176R, W268R	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 214204037.	NM_000329.3(RPE65):c.1243+14G>A GRCh37: Chr1:68897140 GRCh38: Chr1:68431457	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 214189638.	NM_000329.3(RPE65):c.922C>T (p.Pro308Ser) GRCh37: Chr1:68904701 GRCh38: Chr1:68439018	RPE65	P216S, P272S, P308S	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 213500539.	NM_000329.3(RPE65):c.840G>C (p.Glu280Asp) GRCh37: Chr1:68904892 GRCh38: Chr1:68439209	RPE65	E188D, E244D, E280D	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213347940.	NM_000329.3(RPE65):c.1528T>C (p.Leu510=) GRCh37: Chr1:68895533 GRCh38: Chr1:68429850	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213168841.	NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs) GRCh37: Chr1:68897000-68897021 GRCh38: Chr1:68431317-68431338	RPE65	G428fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 212591642.	NM_000329.3(RPE65):c.219A>G (p.Lys73=) GRCh37: Chr1:68912419 GRCh38: Chr1:68446736	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 212275443.	NM_000329.3(RPE65):c.95-13C>T GRCh37: Chr1:68912556 GRCh38: Chr1:68446873	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 212210344.	NM_000329.3(RPE65):c.999-7T>C GRCh37: Chr1:68904006 GRCh38: Chr1:68438323	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 212080545.	NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter) GRCh37: Chr1:68897034 GRCh38: Chr1:68431351	RPE65	Y423, Y387, Y331*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 211959846.	NM_000329.3(RPE65):c.495+12T>C GRCh37: Chr1:68910202 GRCh38: Chr1:68444519	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211804347.	NM_000329.3(RPE65):c.879C>T (p.Asp293=) GRCh37: Chr1:68904744 GRCh38: Chr1:68439061	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 211722448.	NM_000329.3(RPE65):c.225A>T (p.Gly75=) GRCh37: Chr1:68912413 GRCh38: Chr1:68446730	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211523149.	NM_000329.3(RPE65):c.1560T>A (p.Ile520=) GRCh37: Chr1:68895501 GRCh38: Chr1:68429818	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 211509950.	NM_000329.3(RPE65):c.1179A>C (p.Ala393=) GRCh37: Chr1:68897218 GRCh38: Chr1:68431535	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211025751.	NM_000329.3(RPE65):c.10C>T (p.Gln4Ter) GRCh37: Chr1:68915579 GRCh38: Chr1:68449896	RPE65	Q4*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 210968452.	NM_000329.3(RPE65):c.880A>G (p.Lys294Glu) GRCh37: Chr1:68904743 GRCh38: Chr1:68439060	RPE65	K202E, K258E, K294E	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210291553.	NM_000329.3(RPE65):c.1243+8G>C GRCh37: Chr1:68897146 GRCh38: Chr1:68431463	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 209941354.	NM_000329.3(RPE65):c.826A>G (p.Met276Val) GRCh37: Chr1:68904906 GRCh38: Chr1:68439223	RPE65	M184V, M276V, M240V	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 209829355.	NM_000329.3(RPE65):c.447C>A (p.Thr149=) GRCh37: Chr1:68910262 GRCh38: Chr1:68444579	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 209140156.	NM_000329.3(RPE65):c.716dup (p.Tyr239Ter) GRCh37: Chr1:68905252-68905253 GRCh38: Chr1:68439569-68439570	RPE65	Y239*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 209111657.	NM_000329.3(RPE65):c.1185G>C (p.Leu395=) GRCh37: Chr1:68897212 GRCh38: Chr1:68431529	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 208922558.	NM_000329.3(RPE65):c.459A>C (p.Thr153=) GRCh37: Chr1:68910250 GRCh38: Chr1:68444567	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 208921659.	NM_000329.3(RPE65):c.723T>C (p.His241=) GRCh37: Chr1:68905246 GRCh38: Chr1:68439563	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 208602660.	NM_000329.3(RPE65):c.711A>G (p.Pro237=) GRCh37: Chr1:68905258 GRCh38: Chr1:68439575	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 208382461.	NM_000329.3(RPE65):c.625A>T (p.Ile209Phe) GRCh37: Chr1:68906554 GRCh38: Chr1:68440871	RPE65	I173F, I209F, I117F	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 208282462.	NM_000329.3(RPE65):c.82G>T (p.Ala28Ser) GRCh37: Chr1:68914319 GRCh38: Chr1:68448636	RPE65	A28S	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 208032663.	NM_000329.3(RPE65):c.871A>G (p.Ile291Val) GRCh37: Chr1:68904752 GRCh38: Chr1:68439069	RPE65	I291V, I255V, I199V	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 207980064.	NM_000329.3(RPE65):c.985del (p.Cys329fs) GRCh37: Chr1:68904638 GRCh38: Chr1:68438955	RPE65	C329fs	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 207973965.	NM_000329.3(RPE65):c.597T>A (p.Asn199Lys) GRCh37: Chr1:68906582 GRCh38: Chr1:68440899	RPE65	N107K, N163K, N199K	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 207954866.	NM_000329.3(RPE65):c.1450+20T>C GRCh37: Chr1:68896728 GRCh38: Chr1:68431045	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 207898067.	NM_000329.3(RPE65):c.95-14C>T GRCh37: Chr1:68912557 GRCh38: Chr1:68446874	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 206905468.	NM_000329.3(RPE65):c.1183C>A (p.Leu395Met) GRCh37: Chr1:68897214 GRCh38: Chr1:68431531	RPE65	L359M, L395M, L303M	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 206160769.	NM_000329.3(RPE65):c.1244-4G>A GRCh37: Chr1:68897063 GRCh38: Chr1:68431380	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 205495270.	NM_000329.3(RPE65):c.678T>C (p.Val226=) GRCh37: Chr1:68905291 GRCh38: Chr1:68439608	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205275671.	NM_000329.3(RPE65):c.644-7A>C GRCh37: Chr1:68905332 GRCh38: Chr1:68439649	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 205183072.	NM_000329.3(RPE65):c.999-17A>G GRCh37: Chr1:68904016 GRCh38: Chr1:68438333	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 204802673.	NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr) GRCh37: Chr1:68910495 GRCh38: Chr1:68444812	RPE65	C14Y, C106Y	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 204745574.	NM_000329.3(RPE65):c.1161C>T (p.Pro387=) GRCh37: Chr1:68897236 GRCh38: Chr1:68431553	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 204266875.	NM_000329.3(RPE65):c.872T>C (p.Ile291Thr) GRCh37: Chr1:68904751 GRCh38: Chr1:68439068	RPE65	I255T, I199T, I291T	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 204125376.	NM_000329.3(RPE65):c.354-10G>T GRCh37: Chr1:68910365 GRCh38: Chr1:68444682	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 203839777.	NM_000329.3(RPE65):c.658A>G (p.Ile220Val) GRCh37: Chr1:68905311 GRCh38: Chr1:68439628	RPE65	I184V, I128V, I220V	Inborn genetic diseases, Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203795678.	NM_000329.3(RPE65):c.158G>A (p.Gly53Glu) GRCh37: Chr1:68912480 GRCh38: Chr1:68446797	RPE65	G53E	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 203619679.	NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter) GRCh37: Chr1:68910298 GRCh38: Chr1:68444615	RPE65	Y137, Y101, Y45*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 203304180.	NM_000329.3(RPE65):c.999-2A>G GRCh37: Chr1:68904001 GRCh38: Chr1:68438318	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 203161881.	NM_000329.3(RPE65):c.1578T>C (p.Phe526=) GRCh37: Chr1:68895483 GRCh38: Chr1:68429800	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 202783582.	NM_000329.3(RPE65):c.1456G>A (p.Val486Ile) GRCh37: Chr1:68895605 GRCh38: Chr1:68429922	RPE65	V394I, V450I, V486I	Retinitis pigmentosa 20, Leber congenital amaurosis 2, not provided	Uncertain significance (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 201940083.	NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer) GRCh37: Chr1:68895602 GRCh38: Chr1:68429919	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Jul 24, 2022)	criteria provided, single submitter
Select item 201930284.	NM_000329.3(RPE65):c.495+7C>T GRCh37: Chr1:68910207 GRCh38: Chr1:68444524	RPE65	H168Y	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 201884585.	NM_000329.3(RPE65):c.1243+1G>C GRCh37: Chr1:68897153 GRCh38: Chr1:68431470	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 201408986.	NM_000329.3(RPE65):c.1071C>G (p.Ala357=) GRCh37: Chr1:68903927 GRCh38: Chr1:68438244	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 201394987.	NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter) GRCh37: Chr1:68897010 GRCh38: Chr1:68431327	RPE65	Y431, Y339, Y395*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 201279188.	NM_000329.3(RPE65):c.1031C>T (p.Ala344Val) GRCh37: Chr1:68903967 GRCh38: Chr1:68438284	RPE65	A344V, A252V, A308V	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 201016589.	NM_000329.3(RPE65):c.425A>T (p.Asp142Val) GRCh37: Chr1:68910284 GRCh38: Chr1:68444601	RPE65	D106V, D142V, D50V	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200598790.	NM_000329.3(RPE65):c.768A>C (p.Pro256=) GRCh37: Chr1:68904964 GRCh38: Chr1:68439281	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200251191.	NM_000329.3(RPE65):c.72G>T (p.Ser24=) GRCh37: Chr1:68914329 GRCh38: Chr1:68448646	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jun 6, 2022)	criteria provided, single submitter
Select item 200115792.	NM_000329.3(RPE65):c.1065A>G (p.Lys355=) GRCh37: Chr1:68903933 GRCh38: Chr1:68438250	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 200037793.	NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter) GRCh37: Chr1:68896800 GRCh38: Chr1:68431117	RPE65	Y430, Y466, Y374*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 199541394.	NM_000329.3(RPE65):c.1461G>C (p.Leu487=) GRCh37: Chr1:68895600 GRCh38: Chr1:68429917	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 199376995.	NM_000329.3(RPE65):c.1455A>G (p.Val485=) GRCh37: Chr1:68895606 GRCh38: Chr1:68429923	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 198685896.	NM_000329.3(RPE65):c.1291T>C (p.Tyr431His) GRCh37: Chr1:68897012 GRCh38: Chr1:68431329	RPE65	Y395H, Y339H, Y431H	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 197843997.	NM_000329.3(RPE65):c.11+10T>C GRCh37: Chr1:68915568 GRCh38: Chr1:68449885	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 197749898.	NM_000329.3(RPE65):c.1524G>C (p.Lys508Asn) GRCh37: Chr1:68895537 GRCh38: Chr1:68429854	RPE65	K416N, K472N, K508N	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 197732499.	NM_000329.3(RPE65):c.1302G>T (p.Ala434=) GRCh37: Chr1:68897001 GRCh38: Chr1:68431318	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 1976048100.	NM_000329.3(RPE65):c.643+9del GRCh37: Chr1:68906527 GRCh38: Chr1:68440844	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely benign (Jul 11, 2022)	criteria provided, single submitter

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