NPL[gene] and "single gene"[properties] - ClinVar

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Items: 20

	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)	not specified	GUncertain significance
Select item 3049662	NM_030769.3(NPL):c.133A>G (p.Asn45Asp)	NPL (N45D)	Single nucleotide variant (5 prime UTR variant +1 more)	NPL-related disorder	GLikely benign
Select item 2256758	NM_030769.3(NPL):c.137T>G (p.Ile46Ser)	NPL (I46S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3250922	NM_030769.3(NPL):c.165C>T (p.Gly55=)	NPL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639619	NM_030769.3(NPL):c.253G>A (p.Val85Ile)	NPL (V66I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3201708	NM_030769.3(NPL):c.338C>T (p.Pro113Leu)	NPL (P113L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784449	NM_030769.3(NPL):c.354A>G (p.Pro118=)	NPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2593149	NM_030769.3(NPL):c.400G>A (p.Ala134Thr)	NPL (A134T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351757	NM_030769.3(NPL):c.461G>A (p.Arg154His)	NPL (R135H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206371	NM_030769.3(NPL):c.493A>G (p.Lys165Glu)	NPL (K165E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322380	NM_030769.3(NPL):c.495G>T (p.Lys165Asn)	NPL (K165N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639620	NM_030769.3(NPL):c.551A>G (p.Gln184Arg)	NPL (Q165R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780285	NM_030769.3(NPL):c.579G>A (p.Gln193=)	NPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 252566	NM_030769.3(NPL):c.598G>A (p.Val200Met)	NPL (V181M +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 712092	NM_030769.3(NPL):c.738+7G>A	NPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3201709	NM_030769.3(NPL):c.809T>A (p.Met270Lys)	NPL (M251K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3300819	NM_030769.3(NPL):c.866C>T (p.Ser289Phe)	NPL (S289F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 20