"GeneDx"[submitter] AND "LOC126861615"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1279334	NM_000277.3(PAH):c.912+229C>G	LOC126861615, PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92752	NM_000277.3(PAH):c.912+1G>A	LOC126861615, PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 379788	NM_000277.3(PAH):c.901C>A (p.Gln301Lys)	LOC126861615, PAH (Q301K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 92751	NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	LOC126861615, PAH (A300S)	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)	Phenylketonuria +1 more	GPathogenic
Select item 1269142	NM_000277.3(PAH):c.843-268T>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	not provided	GBenign

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