C0031485[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625	NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	PAH (E390G)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102784	NM_000277.3(PAH):c.688G>A (p.Val230Ile)	PAH (V230I)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 585207	NM_000277.3(PAH):c.60+62C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GBenign FDA Recognized database

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