"3billion"[submitter] AND "RPE65"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321180	NM_000329.3(RPE65):c.1451-1G>A	RPE65	Single nucleotide variant (splice acceptor variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 29870	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	RPE65 (Y368H)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 427868	NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
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 13118	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	RPE65 (L341S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98860	NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	RPE65 (I98fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 559523	NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	RPE65 (R81I)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98840	NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	RPE65 (R44Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GPathogenic