"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126861615" - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 102892	NM_000277.3(PAH):c.912G>A (p.Gln304=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
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 306913	NM_000277.3(PAH):c.897T>C (p.Phe299=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance
Select item 613	NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	LOC126861615, PAH (F299C)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic

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