"Blueprint Genetics"[submitter] AND "LCA5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 865956	NM_001122769.3(LCA5):c.1794del (p.Glu599fs)	LCA5 (E599fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866941	NM_001122769.3(LCA5):c.1460_1461del (p.Pro487fs)	LCA5 (P487fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 968	NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	LCA5 (Q279*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 866867	NM_001122769.3(LCA5):c.661T>G (p.Leu221Val)	LCA5 (L221V)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 865776	NM_001122769.3(LCA5):c.647C>G (p.Pro216Arg)	LCA5 (P216R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 236493	NM_001122769.3(LCA5):c.633_639del (p.Glu211fs)	LCA5 (E211fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 639813	NM_001122769.3(LCA5):c.190+1G>A	LCA5	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic

ClinVar