"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593	NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	PAH (Y414C)	Single nucleotide variant (missense 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 607	NM_000277.3(PAH):c.1066-11G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92727	NM_000277.3(PAH):c.1042C>G (p.Leu348Val)	PAH (L348V)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic
Select item 1334639	NM_000277.3(PAH):c.842C>A (p.Pro281His)	PAH (P281H)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
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 636	NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	PAH (I65T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database

ClinVar