| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129930253, ZMPSTE24 (K17fs) | Deletion (frameshift variant) | not provided +1 more | |
| | LOC129930253, ZMPSTE24 (I19fs) | Duplication (frameshift variant) | not provided | |
| | LOC129930253, ZMPSTE24 (Q41*) | Single nucleotide variant (nonsense) | Mandibuloacral dysplasia with type B lipodystrophy | |
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