"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374139	NM_000329.3(RPE65):c.1338+1G>A	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +5 more	GPathogenic
Select item 298019	NM_000329.3(RPE65):c.1243+10T>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +3 more	GConflicting classifications of pathogenicity
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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