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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 851115	NM_000541.5(SAG):c.182-2A>G	SAG	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 867196	NM_000541.5(SAG):c.437C>T (p.Ser146Phe)	SAG (S146F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 862338	NM_000541.5(SAG):c.440G>T (p.Cys147Phe)	SAG (C147F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 41895	NM_000541.5(SAG):c.577C>T (p.Arg193Ter)	SAG (R193*)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic
Select item 865828	NM_000541.5(SAG):c.764C>G (p.Ser255Trp)	SAG (S255W)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866959	NM_000541.5(SAG):c.1120_1132del (p.Asp374fs)	SAG (D374fs)	Deletion (frameshift variant)	Retinal dystrophy	GUncertain significance

ClinVar