| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial focal epilepsy with variable foci +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial focal epilepsy with variable foci +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Familial focal epilepsy with variable foci +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial focal epilepsy with variable foci +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial focal, with variable foci 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
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