| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 4C +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +3 more | |
Click to view in NCBI Gene