| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Congenital myasthenic syndrome 1A +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | C17orf107, CHRNE (E177del) | Deletion (inframe_deletion +1 more) | Congenital myasthenic syndrome 4A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Tip-toe gait +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
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