"Revvity Omics, Revvity"[submitter] AND "LCA5"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810630	NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer)	LCA5	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 1323232	NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)	LCA5 (Y354*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 968	NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	LCA5 (Q279*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5 +3 more	GPathogenic

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