"SAG-related condition"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 9

	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 769594	NM_000541.5(SAG):c.420A>G (p.Pro140=)	SAG	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1105967	NM_000541.5(SAG):c.465A>T (p.Ala155=)	SAG	Single nucleotide variant (synonymous variant)	SAG-related condition +1 more	GLikely benign
Select item 167636	NM_000541.5(SAG):c.468C>T (p.Phe156=)	SAG	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 718731	NM_000541.5(SAG):c.525A>G (p.Arg175=)	SAG	Single nucleotide variant (synonymous variant)	SAG-related condition +3 more	GConflicting classifications of pathogenicity
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 1491772	NM_000541.5(SAG):c.732C>T (p.Phe244=)	SAG	Single nucleotide variant (synonymous variant)	SAG-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1109866	NM_000541.5(SAG):c.945-9T>C	SAG	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1107418	NM_000541.5(SAG):c.1047-10T>C	SAG	Single nucleotide variant (intron variant)	SAG-related condition +1 more	GLikely benign