| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +7 more | |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene