"PNPO-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696574	NM_018129.4(PNPO):c.138+9G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures +1 more	GLikely benign
Select item 415838	NM_018129.4(PNPO):c.168T>G (p.Leu56=)	PNPO	Single nucleotide variant (synonymous variant)	PNPO-related condition +1 more	GLikely benign
Select item 3060786	NM_018129.4(PNPO):c.263+7A>G	PNPO	Single nucleotide variant (intron variant)	PNPO-related condition	GLikely benign
Select item 138731	NM_018129.4(PNPO):c.500T>C (p.Ile167Thr)	PNPO (I167T)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +3 more	GConflicting classifications of pathogenicity
Select item 206450	NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)	PNPO (R225C)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +2 more	GPathogenic/Likely pathogenic
Select item 206452	NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)	PNPO (R229Q)	Single nucleotide variant (missense variant)	PNPO-related condition +2 more	GPathogenic/Likely pathogenic
Select item 138733	NM_018129.4(PNPO):c.723C>G (p.Ser241=)	PNPO	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar