| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IV, classic hepatic +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | DOK7, LOC126806951 (S193G +2 more) | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 10 +3 more | |
| | | Duplication (3 prime UTR variant +1 more) | not provided +8 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 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Farber lipogranulomatosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 9 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +4 more | GPathogenic/Likely pathogenic |
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