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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 309807	NM_002905.5(RDH5):c.-153C>T	RDH5, BLOC1S1-RDH5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1266740	NM_002905.5(RDH5):c.-32-168G>C	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386306	NM_002905.5(RDH5):c.-32-9C>T	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	Pigmentary retinal dystrophy +1 more	GLikely benign
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 309811	NM_002905.5(RDH5):c.265G>A (p.Val89Ile)	BLOC1S1-RDH5, RDH5 (V89I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 208608	NM_002905.5(RDH5):c.285G>A (p.Trp95Ter)	BLOC1S1-RDH5, RDH5 (W95*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 258857	NM_002905.5(RDH5):c.423C>T (p.Ile141=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 1382852	NM_002905.5(RDH5):c.463C>T (p.Arg155Trp)	BLOC1S1-RDH5, RDH5 (R155W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 309813	NM_002905.5(RDH5):c.481A>G (p.Ile161Val)	BLOC1S1-RDH5, RDH5 (I161V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 309814	NM_002905.5(RDH5):c.500G>A (p.Arg167His)	BLOC1S1-RDH5, RDH5 (R167H)	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1293624	NM_002905.5(RDH5):c.569+47C>A	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	Pigmentary retinal dystrophy +1 more	GBenign
Select item 1237158	NM_002905.5(RDH5):c.569+54C>T	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221988	NM_002905.5(RDH5):c.569+152T>C	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236949	NM_002905.5(RDH5):c.570-100C>T	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386307	NM_002905.5(RDH5):c.570-8G>C	RDH5, BLOC1S1-RDH5 +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 258858	NM_002905.5(RDH5):c.600C>G (p.Val200=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
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 8009	NM_002905.5(RDH5):c.928delinsGAAG (p.Leu310delinsGluVal)	BLOC1S1-RDH5, CD63 +1 more	Indel (non-coding transcript variant +2 more)	not provided	GPathogenic