| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (nonsense) | Phytanic acid storage disease +5 more | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 9B +2 more | |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder 9B +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Connective tissue disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata type 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Phytanic acid storage disease +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Phytanic acid storage disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (splice donor variant) | Phytanic acid storage disease +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Rhizomelic chondrodysplasia punctata type 1 +2 more | |
Click to view in NCBI Gene