C0031485[trait identifier] AND "UNC Molecular Genetics Laboratory, Uni - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 576	NM_000277.3(PAH):c.1315+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 577	NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	PAH (R408W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 613	NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	LOC126861615, PAH (F299C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 589	NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	PAH (P281L)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 596	NM_000277.3(PAH):c.814G>T (p.Gly272Ter)	PAH (G272*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 582	NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	PAH (R261Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 604	NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)	PAH (I95del)	Microsatellite (inframe_deletion)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 636	NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	PAH (I65T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 605	NM_000277.3(PAH):c.117C>G (p.Phe39Leu)	PAH (F39L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database

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