"Dept Of Ophthalmology, Nagoya University"[submitter] AND "SAG"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1908380	NM_000541.5(SAG):c.12C>T (p.Ser4=)	SAG	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1924889	NM_000541.5(SAG):c.36G>A (p.Pro12=)	SAG	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 335067	NM_000541.5(SAG):c.226A>G (p.Ile76Val)	SAG (I76V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 3011573	NM_000541.5(SAG):c.238G>T (p.Gly80Cys)	SAG (G80C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 143084	NM_000541.5(SAG):c.250C>T (p.Arg84Cys)	SAG (R84C)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 3027524	NM_000541.5(SAG):c.254G>C (p.Arg85Thr)	SAG (R85T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2706190	NM_000541.5(SAG):c.302C>T (p.Ala101Val)	SAG (A101V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2123667	NM_000541.5(SAG):c.437C>A (p.Ser146Tyr)	SAG (S146Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 335069	NM_000541.5(SAG):c.489C>T (p.Ala163=)	SAG	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GBenign
Select item 3027525	NM_000541.5(SAG):c.660T>C (p.His220=)	SAG	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027526	NM_000541.5(SAG):c.711C>T (p.Thr237=)	SAG	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027527	NM_000541.5(SAG):c.881G>A (p.Arg294Lys)	SAG (R294K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 12951	NM_000541.5(SAG):c.926del (p.Asn309fs)	SAG (N309fs)	Deletion (frameshift variant)	Oguchi disease +2 more	GPathogenic
Select item 1512240	NM_000541.5(SAG):c.965G>A (p.Arg322Gln)	SAG (R322Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3027528	NM_000541.5(SAG):c.1027C>T (p.Leu343=)	SAG	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 2966013	NM_000541.5(SAG):c.1073G>A (p.Arg358His)	SAG (R358H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 841505	NM_000541.5(SAG):c.1136T>C (p.Phe379Ser)	SAG (F379S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 194606	NM_000541.5(SAG):c.1207G>A (p.Val403Ile)	SAG (V403I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GBenign
Select item 335074	NM_000541.5(SAG):c.1208T>C (p.Val403Ala)	SAG (V403A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GBenign