"Baylor Genetics"[submitter] AND "RPE65"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1470027	NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)	RPE65 (F530L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 98850	NM_000329.3(RPE65):c.1590del (p.Phe530fs)	RPE65 (F530fs)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 801494	NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)	RPE65 (G528V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GPathogenic/Likely pathogenic
Select item 1445004	NM_000329.3(RPE65):c.1580A>G (p.His527Arg)	RPE65 (H527R)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13120	NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	RPE65 (R515W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 2678445	NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)	RPE65 (Y409* +2 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2	GPathogenic
Select item 98848	NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	RPE65 (G484D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 1321180	NM_000329.3(RPE65):c.1451-1G>A	RPE65	Single nucleotide variant (splice acceptor variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1213914	NM_000329.3(RPE65):c.1451-2del	RPE65	Deletion (splice acceptor variant)	Leber congenital amaurosis 2	GPathogenic
Select item 98846	NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	RPE65 (V473D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 1070754	NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)	RPE65 (P470L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1069898	NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)	RPE65 (P467A)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 3240375	NM_000329.3(RPE65):c.1398C>G (p.Tyr466Ter)	RPE65 (Y374* +2 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2	GPathogenic
Select item 98845	NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	RPE65 (E462*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic/Likely pathogenic
Select item 2678432	NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)	RPE65 (K357* +2 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 2678436	NM_000329.3(RPE65):c.1339-1G>C	RPE65	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 374139	NM_000329.3(RPE65):c.1338+1G>A	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +5 more	GPathogenic
Select item 29873	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	RPE65 (Y431C)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 98835	NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	RPE65 (E417Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 2018845	NM_000329.3(RPE65):c.1243+1G>C	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GLikely pathogenic
Select item 98834	NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)	RPE65 (L408P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +2 more	GPathogenic/Likely pathogenic
Select item 98831	NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)	RPE65 (E404fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 20 +2 more	GPathogenic
Select item 660359	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	RPE65 (W402*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 3240377	NM_000329.3(RPE65):c.1136_1137del (p.Thr379fs)	RPE65 (T287fs +2 more)	Microsatellite (frameshift variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 29870	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	RPE65 (Y368H)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13117	NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	RPE65 (P363T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 596673	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	RPE65 (N356fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1452579	NM_000329.3(RPE65):c.1059dup (p.Lys354fs)	RPE65 (K354fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 865841	NM_000329.3(RPE65):c.1040G>A (p.Arg347His)	RPE65 (R347H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 2149933	NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)	RPE65 (R347C +2 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 13118	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	RPE65 (L341S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 2678435	NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)	RPE65 (E243fs +2 more)	Deletion (frameshift variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 2678437	NM_000329.3(RPE65):c.999-1G>T	RPE65	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 2	GPathogenic
Select item 1468758	NM_000329.3(RPE65):c.998+1G>A	RPE65	Single nucleotide variant (splice donor variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1702637	NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)	RPE65 (W331*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 98902	NM_000329.3(RPE65):c.962dup (p.Asn321fs)	RPE65 (N321fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98900	NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	RPE65 (Y318N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +2 more	GPathogenic/Likely pathogenic
Select item 1679125	NM_000329.3(RPE65):c.938A>G (p.His313Arg)	RPE65 (H313R)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 942448	NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)	RPE65 (T306I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1070297	NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)	RPE65 (Y304*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 2678438	NM_000329.3(RPE65):c.906_907del (p.Asn302fs)	RPE65 (N210fs +2 more)	Deletion (frameshift variant)	Leber congenital amaurosis 2	GPathogenic
Select item 29872	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	RPE65 (K303*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98897	NM_000329.3(RPE65):c.894del (p.Lys298fs)	RPE65 (K298fs)	Deletion (frameshift variant)	Leber congenital amaurosis 2	GPathogenic
Select item 372493	NM_000329.3(RPE65):c.893del (p.Lys298fs)	RPE65 (K298fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1072483	NM_000329.3(RPE65):c.886del (p.Arg296fs)	RPE65 (R296fs)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 98895	NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	RPE65 (V287F)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 2678448	NM_000329.3(RPE65):c.859-1G>A	RPE65	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 2678441	NM_000329.3(RPE65):c.858+1dup	RPE65	Duplication (splice donor variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 3240376	NM_000329.3(RPE65):c.858+1del	RPE65	Deletion (splice donor variant)	Leber congenital amaurosis 2	GPathogenic
Select item 2678434	NM_000329.3(RPE65):c.842_843del (p.Glu280_Ser281insTer)	RPE65	Deletion (nonsense)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 3024120	NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)	RPE65 (Y275* +2 more)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 587393	NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)	RPE65 (Y275*)	Single nucleotide variant (nonsense)	Congenital isolated adrenocorticotropic hormone deficiency +3 more	GPathogenic
Select item 937681	NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)	RPE65 (Y249C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 952461	NM_000329.3(RPE65):c.726-2A>T	RPE65	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 1457633	NM_000329.3(RPE65):c.725+2T>A	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 1453840	NM_000329.3(RPE65):c.725+1G>A	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 98889	NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	RPE65 (Y239D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13114	NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	RPE65 (R234*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 298023	NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)	RPE65 (Q228P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 2188501	NM_000329.3(RPE65):c.672_673del (p.Glu224fs)	RPE65 (E224fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 2501067	NM_000329.3(RPE65):c.644-2A>G	RPE65	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 20 +2 more	GLikely pathogenic
Select item 98884	NM_000329.3(RPE65):c.644-2A>T	RPE65	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 2	GPathogenic
Select item 940479	NM_000329.3(RPE65):c.643+2T>A	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GLikely pathogenic
Select item 1076002	NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)	RPE65 (Q213*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic/Likely pathogenic
Select item 801497	NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	RPE65 (G187E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 2678446	NM_000329.3(RPE65):c.549del (p.Ile183fs)	RPE65 (I147fs +2 more)	Deletion (frameshift variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 1074826	NM_000329.3(RPE65):c.545A>G (p.His182Arg)	RPE65 (H182R)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98875	NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	RPE65 (H182Y)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98874	NM_000329.3(RPE65):c.544C>A (p.His182Asn)	RPE65 (H182N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 98873	NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	RPE65 (D167Y)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1457635	NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)	RPE65 (Q165*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 973965	NM_000329.3(RPE65):c.440_441del (p.Thr147fs)	RPE65 (T147fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 2 +2 more	GPathogenic
Select item 1452583	NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)	RPE65 (Y144*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 98868	NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)	RPE65 (Y144D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 467827	NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	RPE65 (G140E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 2036196	NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)	RPE65 (Y137* +2 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 98866	NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	RPE65 (R124*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 559521	NM_000329.3(RPE65):c.361dup (p.Ser121fs)	RPE65 (S121fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1454323	NM_000329.3(RPE65):c.361del (p.Ser121fs)	RPE65 (S121fs)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 2678439	NM_000329.3(RPE65):c.354-2A>G	RPE65	Single nucleotide variant (splice acceptor variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 2678442	NM_000329.3(RPE65):c.353+1G>A	RPE65	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 1066633	NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)	RPE65 (I115T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 281715	NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)	RPE65 (P111S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98860	NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	RPE65 (I98fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 2202770	NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)	RPE65 (G104S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GPathogenic/Likely pathogenic
Select item 98863	NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	RPE65 (E102*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98857	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	RPE65 (R91Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 973955	NM_000329.3(RPE65):c.246-11A>G	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 2678444	NM_000329.3(RPE65):c.208T>G (p.Phe70Val)	RPE65 (F70V)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 2	GPathogenic
Select item 98851	NM_000329.3(RPE65):c.202C>T (p.His68Tyr)	RPE65 (H68Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 1068757	NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)	RPE65 (L67R)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 2678443	NM_000329.3(RPE65):c.190del (p.Gln64fs)	RPE65 (Q64fs)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 2	GPathogenic
Select item 98843	NM_000329.3(RPE65):c.138del (p.Pro47fs)	RPE65 (P47fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98840	NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	RPE65 (R44Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GPathogenic
Select item 374497	NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	RPE65 (R44*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98830	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	RPE65 (G40S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98899	NM_000329.3(RPE65):c.95-2A>T	RPE65	Single nucleotide variant (splice acceptor variant +1 more)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 1068758	NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)	RPE65 (G32C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 1275754	NM_000329.3(RPE65):c.93A>G (p.Thr31=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2	GLikely pathogenic

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