| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Lethal tight skin contracture syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Mandibuloacral dysplasia with type B lipodystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lethal tight skin contracture syndrome +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene