| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Severe X-linked myotubular myopathy | |
| | | Copy number loss | Severe X-linked myotubular myopathy | |
Click to view in NCBI Gene