| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +2 more | |
| | | Deletion | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Duplication | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Deletion (5 prime UTR variant +3 more) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Deletion (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Microsatellite (5 prime UTR variant +2 more) | Familial infantile myasthenia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Deletion (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 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 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +2 more | |
| | | Duplication (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Insertion (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Indel (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Deletion (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | |