| | | Microsatellite (5 prime UTR variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (intron variant +2 more) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (nonsense) | Familial infantile myasthenia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |