"Revvity Omics, Revvity"[submitter] AND "PEX2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323437	NM_000318.3(PEX2):c.668G>A (p.Trp223Ter)	PEX2 (W223*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 504137	NM_000318.3(PEX2):c.624dup (p.Pro209fs)	PEX2 (P209fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 1324883	NM_000318.3(PEX2):c.618del (p.Leu207fs)	PEX2 (L207fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 2434656	NM_000318.3(PEX2):c.596G>A (p.Gly199Asp)	PEX2 (G199D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13704	NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)	PEX2 (R119*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger) +3 more	GPathogenic
Select item 288984	NM_000318.3(PEX2):c.19A>C (p.Asn7His)	PEX2 (N7H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +2 more	GUncertain significance

ClinVar