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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617794	NM_022080.3(NAPB):c.785C>T (p.Ala262Val)	NAPB (A262V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539977	NM_022080.3(NAPB):c.722G>A (p.Cys241Tyr)	NAPB (C147Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277270	NM_022080.3(NAPB):c.642C>A (p.Phe214Leu)	NAPB (F120L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250768	NM_022080.3(NAPB):c.616T>C (p.Phe206Leu)	NAPB (F206L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557445	NM_022080.3(NAPB):c.577A>G (p.Met193Val)	NAPB (M197V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410619	NM_022080.3(NAPB):c.424A>G (p.Ile142Val)	NAPB (I146V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175136	NM_022080.3(NAPB):c.373A>G (p.Ile125Val)	NAPB (I86V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175132	NM_022080.3(NAPB):c.340A>G (p.Met114Val)	NAPB (M75V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231745	NM_022080.3(NAPB):c.236A>G (p.His79Arg)	NAPB (M1V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2232187	NM_022080.3(NAPB):c.125G>A (p.Cys42Tyr)	NAPB (C42Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2329879	NM_022080.3(NAPB):c.52G>A (p.Glu18Lys)	LOC130065540, NAPB (E18K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2242371	NM_022080.3(NAPB):c.11C>G (p.Ala4Gly)	LOC130065540, NAPB (A4G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance