| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Progressive neurologic deterioration +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized myoclonic seizure +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Adenylosuccinate lyase deficiency +1 more | |
Click to view in NCBI Gene