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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614688	NM_030769.3(NPL):c.35T>C (p.Val12Ala)	NPL (V12A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256758	NM_030769.3(NPL):c.137T>G (p.Ile46Ser)	NPL (I46S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593149	NM_030769.3(NPL):c.400G>A (p.Ala134Thr)	NPL (A134T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351757	NM_030769.3(NPL):c.461G>A (p.Arg154His)	NPL (R135H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206371	NM_030769.3(NPL):c.493A>G (p.Lys165Glu)	NPL (K165E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322380	NM_030769.3(NPL):c.495G>T (p.Lys165Asn)	NPL (K165N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 252566	NM_030769.3(NPL):c.598G>A (p.Val200Met)	NPL (V181M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2293254	NM_030769.3(NPL):c.668T>G (p.Leu223Arg)	NPL (L204R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545964	NM_030769.3(NPL):c.698C>T (p.Ala233Val)	NPL (A233V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462002	NM_030769.3(NPL):c.832A>G (p.Met278Val)	NPL (M278V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance