| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Duchenne muscular dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
Click to view in NCBI Gene