ClinVar for MedGen (Select 462411) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2138165	NM_000541.5(SAG):c.733G>A (p.Val245Met)	SAG (V245M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1351684	NM_000541.5(SAG):c.682G>A (p.Val228Met)	SAG (V228M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 47 +2 more	GUncertain significance
Select item 898283	NM_000541.5(SAG):c.208C>T (p.Arg70Cys)	SAG (R70C)	Single nucleotide variant (missense variant)	Oguchi disease +4 more	GUncertain significance
Select item 811941	NM_000541.5(SAG):c.944+5G>A	SAG	Single nucleotide variant (intron variant)	Oguchi disease +4 more	GUncertain significance
Select item 194605	NM_000541.5(SAG):c.1132G>A (p.Val378Ile)	SAG (V378I)	Single nucleotide variant (missense variant)	Oguchi disease-1 +4 more	GUncertain significance
Select item 41898	NM_000541.5(SAG):c.916G>T (p.Glu306Ter)	SAG (E306*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 47	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 12951	NM_000541.5(SAG):c.926del (p.Asn309fs)	SAG (N309fs)	Deletion (frameshift variant)	Oguchi disease +2 more	GPathogenic

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