| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (nonsense) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | PEX12-related disorder | |
| | | Single nucleotide variant (intron variant) | PEX12-related disorder | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (splice donor 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 (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (frameshift 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 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 (synonymous 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) | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 3A (Zellweger) +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (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 (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | 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 (synonymous 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 (intron variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (intron variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Deletion (frameshift variant +1 more) | 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 (intron variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (nonsense) | 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 (synonymous 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 (synonymous 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 (synonymous variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 3A (Zellweger) | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Insertion (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | PEX12-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (missense variant) | Peroxisome biogenesis disorder type 3B | |
| | | Copy number loss | Chromosome 17q12 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | 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) | |
| | | Duplication (frameshift 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) | |
| | | 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 (intron 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 (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) | |
| | | Single nucleotide variant (intron 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 (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 +1 more | |