"OMIM"[submitter] AND "RDH5"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8004	NM_002905.5(RDH5):c.218C>T (p.Ser73Phe)	BLOC1S1-RDH5, RDH5 (S73F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8010	NM_002905.5(RDH5):c.469C>T (p.Arg157Trp)	BLOC1S1-RDH5, RDH5 (R157W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 8007	NM_002905.5(RDH5):c.530T>G (p.Val177Gly)	BLOC1S1-RDH5, RDH5 (V177G)	Single nucleotide variant (non-coding transcript variant +1 more)	Fundus albipunctatus, autosomal recessive	GPathogenic
Select item 8003	NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	BLOC1S1-RDH5, CD63 +1 more (G238W)	Single nucleotide variant (non-coding transcript variant +1 more)	RDH5-related condition +4 more	GPathogenic/Likely pathogenic
Select item 8005	NM_002905.5(RDH5):c.839G>A (p.Arg280His)	BLOC1S1-RDH5, CD63 +1 more (R280H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 8008	NM_002905.5(RDH5):c.841T>C (p.Tyr281His)	BLOC1S1-RDH5, CD63 +1 more (Y281H)	Single nucleotide variant (non-coding transcript variant +1 more)	Fundus albipunctatus, autosomal recessive	GPathogenic
Select item 8006	NM_002905.5(RDH5):c.880G>C (p.Ala294Pro)	BLOC1S1-RDH5, CD63 +1 more (A294P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 8009	NM_002905.5(RDH5):c.928delinsGAAG (p.Leu310delinsGluVal)	CD63, RDH5 +1 more	Indel (non-coding transcript variant +1 more)	not provided	GPathogenic