| | | Single nucleotide variant (splice donor variant) | Microcephaly 5, primary, autosomal recessive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Fetal akinesia deformation sequence 3 +2 more | GConflicting classifications of pathogenicity |
| | DOK7, LOC126806951 (V181I +2 more) | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 3 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 10 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fetal akinesia deformation sequence 3 +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) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Duplication (3 prime UTR variant +1 more) | Fetal akinesia deformation sequence 3 +7 more | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome +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) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lissencephaly +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 11 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 11 +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fetal akinesia deformation sequence 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Myopathy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |