| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (3 prime UTR variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Microsatellite (3 prime UTR variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (3 prime UTR variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (3 prime UTR variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (3 prime UTR variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Duplication | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder type 3B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Microsatellite (inframe_deletion) | Peroxisome biogenesis disorder type 3B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder type 3B +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) +1 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder type 3B +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | PEX12-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder type 3B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder type 3B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder type 3B +1 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |