"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812391	NM_002905.5(RDH5):c.71_74del (p.Leu24fs)	BLOC1S1-RDH5, RDH5 (L24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 279881	NM_002905.5(RDH5):c.160C>T (p.Arg54Ter)	RDH5, BLOC1S1-RDH5 (R54*)	Single nucleotide variant (nonsense)	Pigmentary retinal dystrophy +1 more	GPathogenic
Select item 635161	NM_002905.5(RDH5):c.382G>A (p.Asp128Asn)	RDH5, BLOC1S1-RDH5 (D128N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812392	NM_002905.5(RDH5):c.412del (p.Met138fs)	BLOC1S1-RDH5, RDH5 (M138fs)	Deletion (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 812393	NM_002905.5(RDH5):c.547G>T (p.Glu183Ter)	RDH5, BLOC1S1-RDH5 (E183*)	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 425006	NM_002905.5(RDH5):c.572G>A (p.Arg191Gln)	RDH5, BLOC1S1-RDH5 +1 more (R191Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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)	Pigmentary retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 8006	NM_002905.5(RDH5):c.880G>C (p.Ala294Pro)	RDH5, BLOC1S1-RDH5 +1 more (A294P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic