C1859844[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870342	NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)	RPE65 (S533T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 870343	NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)	RPE65 (W460*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 870344	NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)	RPE65 (V443A)	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 +2 more	GPathogenic/Likely pathogenic
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 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 870346	NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)	RPE65 (T162P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GConflicting classifications of pathogenicity
Select item 870345	NM_000329.3(RPE65):c.354G>T (p.Arg118Ser)	RPE65 (R118S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GUncertain significance
Select item 865946	NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)	RPE65 (T101I)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity