"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812758	NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)	RPE65 (Q362*)	Single nucleotide variant (nonsense)	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 98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database

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