| | | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | DOK7, LOC126806951 (V181I +2 more) | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 3 +4 more | |
| | DOK7, LOC126806951 (P180S) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | DOK7, LOC126806951 (S186L +1 more) | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +3 more | |
| | DOK7, LOC126806951 (G183C) | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 10 +2 more | |
| | DOK7, LOC126806951 (R184*) | Single nucleotide variant (nonsense +2 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | DOK7, LOC126806951 (R184Q +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | DOK7, LOC126806951 (G186R) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | |
| | DOK7, LOC126806951 (S193G +2 more) | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 10 +2 more | |
| | DOK7, LOC129992118 (G230R) | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 10 +2 more | |
| | DOK7, LOC129992118 (L245F) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | DOK7, LOC129992118 (A251E +2 more) | Single nucleotide variant (nonsense +2 more) | Congenital myasthenic syndrome 10 +2 more | GConflicting classifications of pathogenicity |
| | DOK7, LOC129992118 (A251V +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 | |
| | DOK7, LOC129992118 (W253R +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (stop lost +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +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) | Fetal akinesia deformation sequence 1 +2 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) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +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) | Inborn genetic diseases | |
| | | 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 +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) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +3 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) | Inborn genetic diseases +2 more | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +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) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +4 more | |
| | | 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) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +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) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 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 +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |