| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Myasthenic syndrome, slow-channel congenital +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +6 more | |
Click to view in NCBI Gene