Related gene-specific medical variations for Gene (Select 6295) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247464	NC_000002.11:g.(?_234217836)_(234255558_?)dup	SAG	Duplication	not provided	GUncertain significance
Select item 3247463	NC_000002.11:g.(?_234247302)_(234249144_?)del	SAG	Deletion	not provided	GUncertain significance
Select item 3068132	NM_000541.5(SAG):c.777C>G (p.Tyr259Ter)	SAG (Y259*)	Single nucleotide variant (nonsense)	Oguchi disease-1	GLikely pathogenic
Select item 3067979	NM_000541.5(SAG):c.182-1G>A	SAG	Single nucleotide variant (splice acceptor variant)	Oguchi disease-1	GLikely pathogenic
Select item 989451	NM_000541.5(SAG):c.649-1G>C	SAG	Single nucleotide variant (splice acceptor variant)	Oguchi disease	GPathogenic
Select item 984410	NM_000541.5(SAG):c.648+1G>C	SAG	Single nucleotide variant (splice donor variant)	Oguchi disease-2	GPathogenic
Select item 866959	NM_000541.5(SAG):c.1120_1132del (p.Asp374fs)	SAG (D374fs)	Deletion (frameshift variant)	Retinal dystrophy	GUncertain significance
Select item 636229	NM_000541.4:c.513_806del	SAG	Deletion	Retinitis pigmentosa	GLikely pathogenic

ClinVar