C0268465[trait identifier] AND "Pediatrics, Sichuan Provincial Hospita - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444501	NM_000320.3(QDPR):c.419C>A (p.Ala140Asp)	QDPR (A109D +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 490	NM_000320.3(QDPR):c.68G>A (p.Gly23Asp)	LOC129992304, QDPR (G23D)	Single nucleotide variant (missense variant +1 more)	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency +1 more	GPathogenic/Likely pathogenic