| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Deletion | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | MUSK-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | MUSK-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | MUSK-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | MUSK-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Duplication (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |