| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myasthenic syndrome, slow-channel congenital +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Synaptic congenital myasthenic syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 5 +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 5 | GPathogenic/Likely pathogenic |