| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 21 | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
Click to view in NCBI Gene