"Dept Of Ophthalmology, Nagoya University"[submitter] AND "RPE65"[gene - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3028822	NM_000329.3(RPE65):c.1484C>A (p.Ala495Glu)	RPE65 (A403E +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 966079	NM_000329.3(RPE65):c.1449T>C (p.Asp483=)	RPE65	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 3028828	NM_000329.3(RPE65):c.1420T>G (p.Ser474Ala)	RPE65 (S382A +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028832	NM_000329.3(RPE65):c.1408C>T (p.Pro470Ser)	RPE65 (P378S +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 849102	NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)	RPE65 (Y433C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 3028844	NM_000329.3(RPE65):c.1289C>A (p.Pro430His)	RPE65 (P338H +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 874186	NM_000329.3(RPE65):c.1238G>A (p.Arg413His)	RPE65 (R413H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +4 more	GUncertain significance
Select item 712719	NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)	RPE65 (T385M)	Single nucleotide variant (missense variant)	RPE65-related disorder +4 more	GConflicting classifications of pathogenicity
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 746140	NM_000329.3(RPE65):c.783G>T (p.Leu261=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 3028857	NM_000329.3(RPE65):c.725G>A (p.Ser242Asn)	RPE65 (S150N +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028862	NM_000329.3(RPE65):c.709C>T (p.Pro237Ser)	RPE65 (P145S +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 876131	NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)	RPE65 (R234Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +3 more	GUncertain significance
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 3028875	NM_000329.3(RPE65):c.619G>C (p.Val207Leu)	RPE65 (V115L +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028880	NM_000329.3(RPE65):c.575T>G (p.Ile192Ser)	RPE65 (I100S +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 876133	NM_000329.3(RPE65):c.565G>A (p.Val189Ile)	RPE65 (V189I)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 716567	NM_000329.3(RPE65):c.441A>G (p.Thr147=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 3028890	NM_000329.3(RPE65):c.377T>C (p.Val126Ala)	RPE65 (V126A +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 755627	NM_000329.3(RPE65):c.375A>G (p.Gly125=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
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 2048026	NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)	RPE65 (C14Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 298025	NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)	RPE65 (G75E)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance
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 3027533	NM_000329.3(RPE65):c.102C>T (p.Ile34=)	RPE65	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GUncertain significance

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Items: 26