"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LCA5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358095	NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile)	LCA5 (V401I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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
Select item 938300	NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter)	LCA5 (Y265*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1034519	NM_001122769.3(LCA5):c.664G>C (p.Ala222Pro)	LCA5 (A222P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 958312	NM_001122769.3(LCA5):c.497A>G (p.Asn166Ser)	LCA5 (N166S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1284340	NM_001122769.3(LCA5):c.137T>A (p.Val46Asp)	LCA5 (V46D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar