"GenomeConnect, ClinGen"[submitter] AND "RPE65"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98863	NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	RPE65 (E102*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
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 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided

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