"Genome-Nilou Lab"[submitter] AND "PEX2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 788245	NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)	PEX2 (E298K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 129885	NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	PEX2 (W250R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +4 more	GConflicting classifications of pathogenicity
Select item 1209594	NM_000318.3(PEX2):c.666A>G (p.Ser222=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5B +1 more	GConflicting classifications of pathogenicity
Select item 167455	NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)	PEX2 (C184R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1209593	NM_000318.3(PEX2):c.483A>G (p.Gly161=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GUncertain significance
Select item 282347	NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)	PEX2 (Y70C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 965038	NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)	PEX2 (G47A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +2 more	GUncertain significance
Select item 92838	NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)	PEX2 (Q31E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 1177036	NM_000318.3(PEX2):c.-17-41G>T	PEX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign