| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | GPathogenic/Likely pathogenic |
| | | Copy number loss | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
Click to view in NCBI Gene