Links from Orgtrack
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 27 | |
| | | Deletion (frameshift variant) | Gabriele de Vries syndrome | |
| | | Single nucleotide variant (intron variant) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | Seizures, benign familial infantile, 2 | |
| | | Deletion (frameshift variant) | Seizures, benign familial infantile, 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 17 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 17 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial temporal lobe, 1 | |
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