| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 3B | |
| | | Single nucleotide variant (missense variant +1 more) | Lethal multiple pterygium syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 3B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 3B | |
| | | Deletion (inframe_deletion) | Congenital myasthenic syndrome 3B | |
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