| | | Deletion | Congenital myasthenic syndrome 10 +1 more | |
| | | Deletion | Congenital myasthenic syndrome 10 +1 more | |
| | | Deletion | Congenital myasthenic syndrome 10 +1 more | |
| | | Deletion | Congenital myasthenic syndrome 10 +1 more | |
| | | 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 | |
| | | Deletion | Fetal akinesia deformation sequence 1 +1 more | |
| | | Deletion | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | 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 | |
| | | 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 (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +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 (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Duplication (frameshift variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +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) | Fetal akinesia deformation sequence 1 +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 (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Duplication (splice donor variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | DOK7, LOC129992118 (P235S) | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | DOK7, LOC129992118 (P235T) | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +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 (missense variant +2 more) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 2 +2 more | GPathogenic/Likely pathogenic |
| | | 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 | |
| | | Insertion (intron variant) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 10 +1 more | |