| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant | Mandibuloacral dysplasia +1 more | |
| | | Single nucleotide variant | Mandibuloacral dysplasia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +1 more | |
| | LOC129930253, ZMPSTE24 (L10F) | Single nucleotide variant (missense variant) | Lethal tight skin contracture syndrome +2 more | |
| | LOC129930253, ZMPSTE24 (R18C) | Single nucleotide variant (missense variant) | Lethal tight skin contracture syndrome +1 more | |
Click to view in NCBI Gene