C0878676[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 484	NM_000317.3(PTS):c.286G>A (p.Asp96Asn)	PTS (D96N)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 1698882	NM_000317.3(PTS):c.351C>A (p.Asn117Lys)	PTS (N117K)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic