C0031485[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627535	NM_000277.3(PAH):c.1108del (p.Glu370fs)	PAH (E370fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 987781	NM_000277.3(PAH):c.804C>A (p.Tyr268Ter)	PAH (Y268*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102693	NM_000277.3(PAH):c.472C>T (p.Arg158Trp)	PAH (R158W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 555212	NM_000277.3(PAH):c.169-2A>G	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database

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