"Genome-Nilou Lab"[submitter] AND "RPE65"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 874186	NM_000329.3(RPE65):c.1238G>A (p.Arg413His)	RPE65 (R413H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 1217351	NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)	RPE65 (W402S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
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 255839	NM_000329.3(RPE65):c.644-33C>G	RPE65	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255838	NM_000329.3(RPE65):c.643+22C>T	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +3 more	GBenign
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 806151	NM_000329.3(RPE65):c.547A>G (p.Ile183Val)	RPE65 (I183V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GUncertain significance
Select item 1209663	NM_000329.3(RPE65):c.462G>C (p.Lys154Asn)	RPE65 (K154N)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +2 more	GUncertain significance
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