| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CHRNE, LOC130060040 (T404I) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CHRNE, LOC130060040 (R401W) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Congenital myasthenic syndrome 4A +2 more | |
| | CHRNE, LOC130060040 (F395V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | CHRNE, LOC130060040 (S391I) | Indel (missense variant) | not provided +1 more | |
| | CHRNE, LOC130060040 (S391R) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | CHRNE, LOC130060040 (R390W) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +1 more | |
| | CHRNE, LOC130060040 (R380C) | Single nucleotide variant (missense variant) | not provided +2 more | |
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