| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | 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 (splice donor variant +1 more) | DOK7-related disorder +5 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | DOK7, LOC126806951 (S193G +2 more) | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +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) | Congenital myasthenic syndrome 10 +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Duplication (3 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myopathy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +7 more | GConflicting classifications of pathogenicity |