| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Fetal akinesia deformation sequence 3 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Fetal akinesia deformation sequence 3 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | DOK7, LOC126806951 (V181I +2 more) | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 3 +4 more | |
| | DOK7, LOC126806951 (R184Q +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | DOK7, LOC126806951 (E188D +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | DOK7, LOC126806951 (S193G +2 more) | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 3 +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | DOK7, LOC129992118 (R230H +1 more) | Single nucleotide variant (synonymous variant +2 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | DOK7, LOC129992118 (R100Q +1 more) | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 10 +2 more | |
| | DOK7, LOC129992118 (A251V +1 more) | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | |
| | DOK7, LOC129992118 (P110R +1 more) | Single nucleotide variant (synonymous variant +2 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | DOK7, LOC129992118 (P254L +1 more) | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | |
| | DOK7, LOC129992118 (Q252R +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 10 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Duplication (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Deletion (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Deletion (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |