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

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615890	NM_148896.5(NPB):c.35T>C (p.Leu12Pro)	NPB, PCYT2 (L12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317275	NM_148896.5(NPB):c.58C>T (p.Pro20Ser)	NPB, PCYT2 (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300734	NM_148896.5(NPB):c.91G>A (p.Gly31Arg)	LOC130061982, NPB +1 more (G31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201554	NM_148896.5(NPB):c.122C>G (p.Ala41Gly)	LOC130061982, NPB +1 more (A41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308763	NM_148896.5(NPB):c.134C>G (p.Ser45Cys)	LOC130061982, NPB +1 more (S45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300735	NM_148896.5(NPB):c.137G>A (p.Gly46Asp)	LOC130061982, NPB +1 more (G46D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249192	NM_148896.5(NPB):c.143G>A (p.Arg48His)	LOC130061982, NPB +1 more (R48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406205	NM_148896.5(NPB):c.149C>T (p.Ser50Phe)	LOC130061982, NPB +1 more (S50F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343879	NM_148896.5(NPB):c.238C>A (p.Leu80Met)	LOC130061982, NPB +1 more (L80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201555	NM_148896.5(NPB):c.247C>G (p.Leu83Val)	LOC130061982, NPB +1 more (L83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455961	NM_148896.5(NPB):c.306C>A (p.Asp102Glu)	LOC130061982, NPB +1 more (D102E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348286	NM_148896.5(NPB):c.370G>A (p.Ala124Thr)	NPB, PCYT2 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance