| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +3 more | |
| | | Deletion (splice acceptor variant) | Congenital myasthenic syndrome 1A +4 more | |
| | CHRNE, LOC130060041 (G355fs) | Deletion (frameshift variant) | Congenital myasthenic syndrome 4A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | C17orf107, CHRNE (E151del) | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene