| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Osteomyelitis leading to amputation due to slow healing fractures +3 more | |
| | | Single nucleotide variant (missense variant) | Muscle weakness +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X +9 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene