| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (splice donor variant) | ZMPSTE24-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
Click to view in NCBI Gene