| | | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Fetal akinesia deformation sequence 1 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | 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 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 10 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +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) | Fetal akinesia deformation sequence 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 10 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | DOK7, LOC126806951 (A179fs +2 more) | Deletion (frameshift variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | DOK7, LOC126806951 (L184fs +2 more) | Deletion (frameshift variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Deletion (frameshift variant +1 more) | Fetal akinesia deformation sequence 3 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 3 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 3 | |
| | | Deletion (frameshift variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | DOK7, LOC129992118 (H106fs +2 more) | Microsatellite (frameshift variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | GPathogenic/Likely pathogenic |
| | DOK7, LOC129992118 (S105* +1 more) | Single nucleotide variant (synonymous variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | DOK7, LOC129992118 (A251E +2 more) | Single nucleotide variant (nonsense +2 more) | Congenital myasthenic syndrome 10 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Fetal akinesia deformation sequence 3 | |
| | | Deletion (splice acceptor variant) | Fetal akinesia deformation sequence 3 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | | Deletion (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +7 more | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +3 more | |
| | | Deletion (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Duplication (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) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Deletion (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Microsatellite (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | 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 |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Deletion (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | |
| | | Deletion (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Duplication (3 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | |
| | | Single nucleotide variant (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) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +1 more | GPathogenic/Likely pathogenic |
| | | Insertion (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 | |
| | | Deletion (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 3 | |
| | JAKMIP1, KIAA0232
+90 more | Copy number loss | 4p partial monosomy syndrome | |