"Ambry Genetics"[submitter] AND "RDH11"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2543043	NM_016026.4(RDH11):c.953A>G (p.Asp318Gly)	GPHN, RDH11 (D248G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559713	NM_016026.4(RDH11):c.911G>A (p.Arg304Gln)	GPHN, RDH11 (R234Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152771	NM_016026.4(RDH11):c.890G>A (p.Arg297His)	GPHN, RDH11 (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 961974	NM_016026.4(RDH11):c.747G>A (p.Met249Ile)	GPHN, RDH11 (M179I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1058723	NM_016026.4(RDH11):c.721C>T (p.Arg241Trp)	GPHN, RDH11 (R171W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3152770	NM_016026.4(RDH11):c.693C>A (p.His231Gln)	GPHN, RDH11 (H231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1044863	NM_016026.4(RDH11):c.645A>T (p.Glu215Asp)	RDH11, GPHN (E215D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1057094	NM_016026.4(RDH11):c.598C>G (p.Leu200Val)	GPHN, RDH11 (L200V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 946513	NM_016026.4(RDH11):c.572A>G (p.Gln191Arg)	GPHN, RDH11 (Q191R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1475158	NM_016026.4(RDH11):c.455G>A (p.Gly152Asp)	GPHN, RDH11 (G152D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3152769	NM_016026.4(RDH11):c.448C>A (p.His150Asn)	GPHN, RDH11 (H150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1464811	NM_016026.4(RDH11):c.436A>G (p.Ile146Val)	GPHN, RDH11 (I146V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2337901	NM_016026.4(RDH11):c.352G>C (p.Glu118Gln)	GPHN, RDH11 (E118Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1525921	NM_016026.4(RDH11):c.323G>A (p.Arg108Gln)	GPHN, RDH11 (R108Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2298193	NM_016026.4(RDH11):c.308A>G (p.Asp103Gly)	GPHN, RDH11 (D103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1925832	NM_016026.4(RDH11):c.218G>A (p.Arg73Gln)	GPHN, RDH11 (R73Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1898060	NM_016026.4(RDH11):c.217C>T (p.Arg73Trp)	GPHN, RDH11 (R73W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1038708	NM_016026.4(RDH11):c.121G>A (p.Gly41Arg)	GPHN, RDH11 (G41R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2280282	NM_016026.4(RDH11):c.81G>T (p.Met27Ile)	GPHN, RDH11 (M27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1052318	NM_016026.4(RDH11):c.46C>G (p.Leu16Val)	GPHN, RDH11 (L16V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 20