| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | |
Click to view in NCBI Gene