| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | PEX7-related disorder +5 more | |
| | | Single nucleotide variant (synonymous variant) | PEX7-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Connective tissue disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder 9B +3 more | |
| | | Single nucleotide variant (nonsense) | Rhizomelic chondrodysplasia punctata type 1 +4 more | |
| | | Single nucleotide variant (splice donor variant) | PEX7-related disorder +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Phytanic acid storage disease +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | PHYH-related disorder +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Phytanic acid storage disease +2 more | |