"Ambry Genetics"[submitter] AND "RDH5"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1493713	NM_002905.5(RDH5):c.56G>A (p.Arg19Lys)	BLOC1S1-RDH5, RDH5 (R19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1002535	NM_002905.5(RDH5):c.76G>A (p.Ala26Thr)	BLOC1S1-RDH5, RDH5 (A26T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2238061	NM_002905.5(RDH5):c.82A>G (p.Asn28Asp)	BLOC1S1-RDH5, RDH5 (N28D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 956095	NM_002905.5(RDH5):c.125G>A (p.Arg42His)	RDH5, BLOC1S1-RDH5 (R42H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 938260	NM_002905.5(RDH5):c.161G>A (p.Arg54Gln)	BLOC1S1-RDH5, RDH5 (R54Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3313465	NM_002905.5(RDH5):c.173G>A (p.Ser58Asn)	BLOC1S1-RDH5, RDH5 (S58N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290947	NM_002905.5(RDH5):c.185C>T (p.Pro62Leu)	BLOC1S1-RDH5, RDH5 (P62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193932	NM_002905.5(RDH5):c.196G>A (p.Glu66Lys)	BLOC1S1-RDH5, RDH5 (E66K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3313464	NM_002905.5(RDH5):c.294G>C (p.Met98Ile)	BLOC1S1-RDH5, RDH5 (M98I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313463	NM_002905.5(RDH5):c.338G>T (p.Gly113Val)	BLOC1S1-RDH5, RDH5 (G113V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 959908	NM_002905.5(RDH5):c.340G>A (p.Val114Met)	BLOC1S1-RDH5, RDH5 (V114M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 964633	NM_002905.5(RDH5):c.392G>A (p.Arg131Gln)	BLOC1S1-RDH5, RDH5 (R131Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 849458	NM_002905.5(RDH5):c.464G>A (p.Arg155Gln)	BLOC1S1-RDH5, RDH5 (R155Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3152805	NM_002905.5(RDH5):c.566T>C (p.Leu189Pro)	BLOC1S1-RDH5, RDH5 (L189P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314626	NM_002905.5(RDH5):c.592A>G (p.Ile198Val)	BLOC1S1-RDH5, CD63 +1 more (I198V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1020654	NM_002905.5(RDH5):c.596G>A (p.Arg199Gln)	BLOC1S1-RDH5, CD63 +1 more (R199Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2308807	NM_002905.5(RDH5):c.664C>G (p.Leu222Val)	BLOC1S1-RDH5, CD63 +1 more (L222V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256293	NM_002905.5(RDH5):c.715G>A (p.Gly239Arg)	BLOC1S1-RDH5, CD63 +1 more (G239R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 962002	NM_002905.5(RDH5):c.776C>A (p.Pro259Gln)	RDH5, BLOC1S1-RDH5 +1 more (P259Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance