| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Congenital myasthenic syndrome 4B +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4B +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4B +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene