| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 12 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 4C +5 more | |
Click to view in NCBI Gene