| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Abnormality of the musculature | |
| | | Single nucleotide variant (nonsense) | Abnormality of the musculature | |
| | | Deletion (frameshift variant) | Abnormality of the skin | |
| | | Deletion (inframe_deletion +2 more) | Abnormality of the musculature | |
Click to view in NCBI Gene