"Clinical Genetics, Academic Medical Center"[submitter] AND "SAG"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 791237	NM_000541.5(SAG):c.31G>A (p.Glu11Lys)	SAG (E11K)	Single nucleotide variant (missense variant)	Oguchi disease +3 more	GConflicting classifications of pathogenicity
Select item 167633	NM_000541.5(SAG):c.301G>A (p.Ala101Thr)	SAG (A101T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 855885	NM_000541.5(SAG):c.473C>A (p.Thr158Lys)	SAG (T158K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 712453	NM_000541.5(SAG):c.588G>A (p.Ala196=)	SAG	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1136044	NM_000541.5(SAG):c.804G>T (p.Ala268=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791897	NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)	SAG (P364L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 335073	NM_000541.5(SAG):c.1167T>A (p.Asp389Glu)	SAG (D389E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar