| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 19 | |
| | | Insertion (frameshift variant +1 more) | Congenital myasthenic syndrome 19 | |
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