| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive +2 more | |
| | | Deletion (intron variant) | Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 7 +2 more | |
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