"Revvity Omics, Revvity"[submitter] AND "PTS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 463153	NM_000317.3(PTS):c.73C>G (p.Arg25Gly)	PTS, LOC130006765 (R25G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 479	NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	PTS (N52S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 551630	NM_000317.3(PTS):c.166GTG[1] (p.Val57del)	PTS (V57del)	Microsatellite (inframe_deletion)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 481	NM_000317.3(PTS):c.166G>A (p.Val56Met)	PTS (V56M)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 463151	NM_000317.3(PTS):c.200C>T (p.Thr67Met)	PTS (T67M)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic
Select item 2689846	NM_000317.3(PTS):c.243+4A>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2432884	NM_000317.3(PTS):c.256C>T (p.Gln86Ter)	PTS (Q86*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GLikely pathogenic

ClinVar