| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 2A +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4C +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
Click to view in NCBI Gene