"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126861615"[gen - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 92750	NM_000277.3(PAH):c.890G>A (p.Arg297His)	LOC126861615, PAH (R297H)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102885	NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	LOC126861615, PAH (R297C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102874	NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	LOC126861615, PAH (D282N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic

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