"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812407	NM_000329.3(RPE65):c.722A>T (p.His241Leu)	RPE65 (H241L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 812408	NM_000329.3(RPE65):c.227A>C (p.His76Pro)	RPE65 (H76P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 98899	NM_000329.3(RPE65):c.95-2A>T	RPE65	Single nucleotide variant (splice acceptor variant +1 more)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database

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ClinVar