| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 4B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Heimler syndrome 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Heimler syndrome 2 +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Heimler syndrome 2 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Heimler syndrome 2 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Heimler syndrome 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Heimler syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder 4A (Zellweger) +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 4A (Zellweger) +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Peroxisome biogenesis disorder 4A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Heimler syndrome 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder 4A (Zellweger) +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Heimler syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Heimler syndrome 2 +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | Heimler syndrome 2 +3 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant +1 more) | Heimler syndrome 2 +2 more | |
| | | Deletion (frameshift variant +1 more) | Heimler syndrome 2 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +1 more) | Peroxisome biogenesis disorder 4B +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Heimler syndrome 2 +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Heimler syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Heimler syndrome 2 +3 more | GConflicting classifications of pathogenicity |