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

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636518	NM_000270.4(PNP):c.437C>T (p.Pro146Leu)	PNP (P146L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 636509	NM_000270.4(PNP):c.769C>G (p.His257Asp)	PNP (H257D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination