| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +3 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 16 | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +5 more | |
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