| | | Single nucleotide variant (splice donor variant +1 more) | Congenital myasthenic syndrome 10 +5 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 10 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Deletion (frameshift variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | GPathogenic/Likely pathogenic |
| | | Indel (inframe_indel +1 more) | Fetal akinesia deformation sequence 1 +1 more | GConflicting classifications of pathogenicity |
| | DOK7, LOC129992118 (G248R) | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Duplication (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +8 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) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |