ClinVar for MedGen (Select 278050) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812394	NM_002905.5(RDH5):c.718dup (p.Ala240fs)	BLOC1S1-RDH5, CD63 +1 more (A240fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 812316	NM_001142800.2(EYS):c.4361_4362delinsAG (p.Ser1454Ter)	EYS (S1454*)	Indel (nonsense)	Retinitis punctata albescens	GPathogenic
Select item 635160	NM_000326.5(RLBP1):c.79del (p.Thr27fs)	RLBP1 (T27fs)	Deletion (frameshift variant)	Retinitis punctata albescens +1 more	GPathogenic
Select item 191289	NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)	RLBP1	Deletion (inframe_deletion)	Bothnia retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 13101	NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)	RLBP1 (M226K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 13100	NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)	RLBP1 (R234W)	Single nucleotide variant (missense variant)	RLBP1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 13099	NM_000326.5(RLBP1):c.141G>A (p.Lys47=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 13097	NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)	RLBP1 (R151Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13028	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO (R135W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic

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