ClinVar for MedGen (Select 87386) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584668	NM_020061.6(OPN1LW):c.843G>T (p.Trp281Cys)	OPN1LW (W281C)	Single nucleotide variant (missense variant)	Cone monochromatism	GUncertain significance
Select item 1326976	NM_020061.6(OPN1LW):c.513G>T (p.Val171=)	OPN1LW	Single nucleotide variant (synonymous variant)	Cone monochromatism	GBenign
Select item 1326975	NM_020061.6(OPN1LW):c.511G>A (p.Val171Met)	OPN1LW (V171M)	Single nucleotide variant (missense variant)	Cone monochromatism	GBenign
Select item 1299568	NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter)	OPN1LW (W90*)	Single nucleotide variant (nonsense)	Cone monochromatism	GPathogenic
Select item 448956	Single allele	LOC125467793, OPN1LW +2 more	Deletion	Cone monochromatism	GPathogenic
Select item 10508	NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)	OPN1MW (C203R)	Single nucleotide variant (missense variant)	Cone monochromatism +1 more	GPathogenic
Select item 10507	NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del	OPN1LW	Deletion	Cone monochromatism	GPathogenic
Select item 10505	NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)	OPN1LW (C203R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10503	NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)	OPN1LW (R247*)	Single nucleotide variant (nonsense)	Cone monochromatism	GPathogenic

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