"Revvity Omics, Revvity"[submitter] AND "PEX7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7788	NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	PEX7 (Y40*)	Single nucleotide variant (nonsense)	Phytanic acid storage disease +5 more	GPathogenic
Select item 2434664	NM_000288.4(PEX7):c.166G>T (p.Ala56Ser)	PEX7 (A18S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7787	NM_000288.4(PEX7):c.340-10A>G	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +3 more	GConflicting classifications of pathogenicity
Select item 189076	NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	PEX7 (W206*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 7782	NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	PEX7 (G217R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +3 more	GPathogenic/Likely pathogenic
Select item 38872	NM_000288.4(PEX7):c.854A>G (p.His285Arg)	PEX7 (H285R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 7780	NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	PEX7 (L292*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic

ClinVar