| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Emery-Dreifuss muscular dystrophy 1, X-linked | |
| | | Insertion (frameshift variant) | Emery-Dreifuss muscular dystrophy 1, X-linked | |
| | | Copy number gain | not provided | |
| | CXorf49B, CXorf51A
+821 more | Copy number loss | not provided | |
Click to view in NCBI Gene