Related gene-specific medical variations for Gene (Select 4860) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064932	NM_000270.4(PNP):c.83C>T (p.Ala28Val)	PNP (A28V)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 636526	NM_000270.4(PNP):c.547G>T (p.Glu183Ter)	PNP (E183*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 522741	NM_000270.4(PNP):c.410A>G (p.Asn137Ser)	PNP (N137S)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance

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