"Retina International"[submitter] AND "RPE65"[gene] - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 98849	NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)	RPE65 (I520T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
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 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 98847	NM_000329.3(RPE65):c.1451-22C>T	RPE65	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 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 98844	NM_000329.3(RPE65):c.1370C>A (p.Thr457Asn)	RPE65 (T457N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 13116	NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	RPE65 (V452G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 98842	NM_000329.3(RPE65):c.1350G>T (p.Leu450=)	RPE65	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98841	NM_000329.3(RPE65):c.1338+20A>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 87 with choroidal involvement +4 more	GBenign
Select item 98839	NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)	RPE65 (G436V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 98838	NM_000329.3(RPE65):c.1304A>G (p.Tyr435Cys)	RPE65 (Y435C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98837	NM_000329.3(RPE65):c.1302G>C (p.Ala434=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +3 more	GBenign/Likely benign
Select item 98836	NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)	RPE65 (A434V)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
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 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 98833	NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)	RPE65 (V407A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GUncertain significance
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 98832	NM_000329.3(RPE65):c.1208T>C (p.Leu403Pro)	RPE65 (L403P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98829	NM_000329.3(RPE65):c.1178C>G (p.Ala393Gly)	RPE65 (A393G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98828	NM_000329.3(RPE65):c.1155G>A (p.Thr385=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98827	NM_000329.3(RPE65):c.1120del (p.Ile374fs)	RPE65 (I374fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98826	NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)	RPE65 (Y368C)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
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 98823	NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)	RPE65 (A360P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 98821	NM_000329.3(RPE65):c.1067del (p.Asn356fs)	RPE65 (N356fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98820	NM_000329.3(RPE65):c.1056G>A (p.Glu352=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98819	NM_000329.3(RPE65):c.1053A>G (p.Glu351=)	RPE65	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98818	NM_000329.3(RPE65):c.1046_1047insTGG (p.Asn349_Trp350insGly)	RPE65	Insertion (inframe_insertion)	not provided	Gnot provided
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 98904	NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)	RPE65 (C330Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 98903	NM_000329.3(RPE65):c.978G>T (p.Val326=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
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 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 92859	NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)	RPE65 (K294T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
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 98894	NM_000329.3(RPE65):c.858+4A>G	RPE65	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 98893	NM_000329.3(RPE65):c.858+1G>T	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 98892	NM_000329.3(RPE65):c.858+1G>A	RPE65	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 98891	NM_000329.3(RPE65):c.778_785del (p.Asn260fs)	RPE65 (N260fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98890	NM_000329.3(RPE65):c.725+4A>G	RPE65	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 98887	NM_000329.3(RPE65):c.644A>G (p.Asp215Gly)	RPE65 (D215G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98883	NM_000329.3(RPE65):c.644-1G>T	RPE65	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
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 98885	NM_000329.3(RPE65):c.644-42del	RPE65	Deletion (intron variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 98886	NM_000329.3(RPE65):c.644-43del	RPE65	Deletion (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 98882	NM_000329.3(RPE65):c.643+5G>A	RPE65	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 98881	NM_000329.3(RPE65):c.643+1G>C	RPE65	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 98880	NM_000329.3(RPE65):c.615_616del (p.Ile206fs)	RPE65 (I206fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98879	NM_000329.3(RPE65):c.614A>G (p.Asn205Ser)	RPE65 (N205S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 98878	NM_000329.3(RPE65):c.609C>T (p.Ala203=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +2 more	GBenign/Likely benign
Select item 98876	NM_000329.3(RPE65):c.570C>T (p.Tyr190=)	RPE65	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 98872	NM_000329.3(RPE65):c.495+1dup	RPE65 (V166fs)	Duplication (frameshift variant +1 more)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98870	NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)	RPE65 (E148D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 98869	NM_000329.3(RPE65):c.432C>T (p.Tyr144=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
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 98867	NM_000329.3(RPE65):c.399T>C (p.Leu133=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 13119	NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	RPE65 (A132T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
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 98865	NM_000329.3(RPE65):c.353+1G>T	RPE65	Single nucleotide variant (splice donor variant +1 more)	not provided	Gnot provided
Select item 98864	NM_000329.3(RPE65):c.311G>T (p.Gly104Val)	RPE65 (G104V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely pathogenic
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 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 98862	NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)	RPE65 (E102K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98859	NM_000329.3(RPE65):c.283G>C (p.Glu95Gln)	RPE65 (E95Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 98858	NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)	RPE65 (R91P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely pathogenic
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 98856	NM_000329.3(RPE65):c.271_272insA (p.Arg91fs)	RPE65 (R91fs)	Insertion (frameshift variant)	not provided	Gnot provided
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 98855	NM_000329.3(RPE65):c.254G>A (p.Arg85His)	RPE65 (R85H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 98854	NM_000329.3(RPE65):c.235T>C (p.Tyr79His)	RPE65 (Y79H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GLikely pathogenic
Select item 98853	NM_000329.3(RPE65):c.231C>A (p.Val77=)	RPE65	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 98852	NM_000329.3(RPE65):c.208_209delinsGG (p.Phe70Gly)	RPE65 (F70G)	Indel (missense variant)	not provided	Gnot provided
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 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 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 98822	NM_000329.3(RPE65):c.106_114del (p.Leu36_Leu38del)	RPE65	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 98901	NM_000329.3(RPE65):c.95G>T (p.Gly32Val)	RPE65 (G32V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 98898	NM_000329.3(RPE65):c.89dup (p.Thr31fs)	RPE65 (T31fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98888	NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	RPE65 (L22P)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 98877	NM_000329.3(RPE65):c.57_58del (p.Glu20fs)	RPE65 (E20fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 98871	NM_000329.3(RPE65):c.48T>C (p.Phe16=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 98824	NM_000329.3(RPE65):c.11+34T>A	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98861	NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	RPE65 (M1T)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 20 +1 more	GPathogenic/Likely pathogenic

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Items: 97