| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 7 | |
| | | Deletion (inframe_deletion) | Congenital myasthenic syndrome 7 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 7 | |
| | | Single nucleotide variant (nonsense) | Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | |
| | | Duplication (frameshift variant) | Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | |
| | | Single nucleotide variant (splice donor variant) | Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | |
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