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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201622	NM_006310.4(NPEPPS):c.38G>T (p.Arg13Leu)	NPEPPS (R13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311858	NM_006310.4(NPEPPS):c.44T>C (p.Leu15Pro)	NPEPPS (L15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569413	NM_006310.4(NPEPPS):c.82G>C (p.Val28Leu)	NPEPPS (V28L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569414	NM_006310.4(NPEPPS):c.85T>C (p.Phe29Leu)	NPEPPS (F29L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201615	NM_006310.4(NPEPPS):c.109C>T (p.Leu37Phe)	NPEPPS (L37F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201621	NM_006310.4(NPEPPS):c.254A>G (p.Gln85Arg)	NPEPPS (Q81R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201623	NM_006310.4(NPEPPS):c.622A>G (p.Lys208Glu)	NPEPPS (K204E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400202	NM_006310.4(NPEPPS):c.673C>T (p.Pro225Ser)	NPEPPS (P225S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233720	NM_006310.4(NPEPPS):c.815T>C (p.Val272Ala)	NPEPPS (V268A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201616	NM_006310.4(NPEPPS):c.1217G>A (p.Arg406His)	NPEPPS (R402H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201617	NM_006310.4(NPEPPS):c.1255A>G (p.Ile419Val)	NPEPPS (I415V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244235	NM_006310.4(NPEPPS):c.1355T>C (p.Ile452Thr)	NPEPPS (I448T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369686	NM_006310.4(NPEPPS):c.1520A>G (p.Tyr507Cys)	NPEPPS (Y503C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201618	NM_006310.4(NPEPPS):c.1540G>A (p.Glu514Lys)	NPEPPS (E510K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335368	NM_006310.4(NPEPPS):c.1664C>G (p.Ala555Gly)	NPEPPS (A555G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618985	NM_006310.4(NPEPPS):c.1705G>A (p.Val569Ile)	NPEPPS (V569I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237223	NM_006310.4(NPEPPS):c.1768C>T (p.Arg590Trp)	NPEPPS (R590W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201619	NM_006310.4(NPEPPS):c.1780A>T (p.Ser594Cys)	NPEPPS (S590C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201620	NM_006310.4(NPEPPS):c.2005A>G (p.Thr669Ala)	NPEPPS (T669A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340336	NM_006310.4(NPEPPS):c.2179C>T (p.Arg727Cys)	NPEPPS (R727C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254771	NM_006310.4(NPEPPS):c.2243A>T (p.Tyr748Phe)	NPEPPS (Y744F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470560	NM_006310.4(NPEPPS):c.2344G>A (p.Val782Ile)	NPEPPS (V782I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288125	NM_006310.4(NPEPPS):c.2353G>A (p.Ala785Thr)	NPEPPS (A781T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212271	NM_006310.4(NPEPPS):c.2735G>A (p.Arg912Gln)	KPNB1-DT, NPEPPS (R908Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 24