"Unidade de Bioquimica Genetica, Centro Hospitalar do Porto"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 102555	NM_000277.3(PAH):c.1199+17G>A	PAH	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 446506	NM_000277.3(PAH):c.934G>T (p.Gly312Cys)	PAH (G312C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic