C1859844[trait identifier] AND "Laboratory of Genetics in Ophthalmolog - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973968	NM_000329.3(RPE65):c.1596dup (p.Ser533fs)	RPE65 (S533fs)	Duplication (frameshift variant)	Leber congenital amaurosis 2	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 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 973961	NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)	RPE65 (E481del)	Microsatellite (inframe_deletion)	not specified +2 more	GUncertain significance
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 850613	NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)	RPE65 (A434E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 973964	NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs)	RPE65 (E404fs)	Insertion (frameshift variant)	Leber congenital amaurosis 2	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 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 98821	NM_000329.3(RPE65):c.1067del (p.Asn356fs)	RPE65 (N356fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
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 973960	NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)	RPE65 (W331*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 98904	NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)	RPE65 (C330Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 98900	NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	RPE65 (Y318N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 973959	NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)	RPE65 (P308L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 973958	NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)	RPE65 (R305I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 973957	NM_000329.3(RPE65):c.843_858+7del	RPE65	Deletion (splice donor variant)	Leber congenital amaurosis 2	GPathogenic
Select item 98892	NM_000329.3(RPE65):c.858+1G>A	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 973967	NM_000329.3(RPE65):c.770T>G (p.Val257Gly)	RPE65 (V257G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely pathogenic
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 973963	NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)	RPE65 (K236*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic
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 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 973956	NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)	RPE65 (N191D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
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	GLikely pathogenic FDA Recognized database
Select item 973966	NM_000329.3(RPE65):c.444_445del (p.Glu148fs)	RPE65 (E148fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 2	GPathogenic
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 973965	NM_000329.3(RPE65):c.440_441del (p.Thr147fs)	RPE65 (T147fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 2 +2 more	GPathogenic
Select item 973962	NM_000329.3(RPE65):c.407T>G (p.Val136Gly)	RPE65 (V136G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GLikely 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 962032	NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)	RPE65 (T105N)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
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 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +6 more	GPathogenic
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 973952	NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu)	RPE65	Deletion (inframe_indel)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 973954	NM_000329.3(RPE65):c.190C>T (p.Gln64Ter)	RPE65 (Q64*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2	GPathogenic
Select item 973953	NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)	RPE65 (G63R)	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)	Leber congenital amaurosis 2	GPathogenic
Select item 98840	NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	RPE65 (R44Q)	Single nucleotide variant (missense variant)	RPE65-related disorder +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 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 437985	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	RPE65 (P25L)	Single nucleotide variant (missense 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 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 973969	NM_000329.2:c.1_1602del	RPE65	Deletion	Leber congenital amaurosis 2	GPathogenic

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Items: 49