"Revvity Omics, Revvity"[submitter] AND "PEX5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594066	NM_001351132.2(PEX5):c.316+3G>A	PEX5	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 2434660	NM_001351132.2(PEX5):c.418T>C (p.Trp140Arg)	PEX5 (W140R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000192	NM_001351132.2(PEX5):c.552-10C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 2434659	NM_001351132.2(PEX5):c.788G>A (p.Arg263Lys)	PEX5 (R226K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434658	NM_001351132.2(PEX5):c.1184G>T (p.Cys395Phe)	PEX5 (C350F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9143	NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	PEX5 (N489K +7 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GPathogenic/Likely pathogenic

ClinVar