| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pyridoxal phosphate-responsive seizures | |
| | | Single nucleotide variant (missense variant) | Pyridoxal phosphate-responsive seizures | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 5A +2 more | |
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