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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308165	NM_000270.4(PNP):c.229G>A (p.Ala77Thr)	PNP (A77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1011725	NM_000270.4(PNP):c.335T>C (p.Val112Ala)	PNP (V112A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1484678	NM_000270.4(PNP):c.508A>G (p.Met170Val)	PNP (M170V)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency +1 more	GUncertain significance
Select item 2603307	NM_000270.4(PNP):c.551A>G (p.Gln184Arg)	PNP (Q184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308163	NM_000270.4(PNP):c.558G>C (p.Glu186Asp)	PNP (E186D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308164	NM_000270.4(PNP):c.644A>C (p.Asp215Ala)	PNP (D215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar