| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 1A | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Congenital myasthenic syndrome 1A +4 more | |
Click to view in NCBI Gene