| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 10 | |
| | | Duplication (frameshift variant +1 more) | Fetal akinesia deformation sequence 3 +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene