| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 +3 more | |
| | | Duplication (3 prime UTR variant +1 more) | DOK7-related disorder +8 more | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |
| | CHRNE, LOC130060041 (R364fs) | Duplication (frameshift variant) | Congenital myasthenic syndrome 4A +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4B +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Abnormality of the musculature +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome 4A +6 more | |
Click to view in NCBI Gene