| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant epilepsy with auditory features +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant epilepsy with auditory features +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant epilepsy with auditory features +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Epilepsy, familial temporal lobe, 1 +2 more | GPathogenic/Likely pathogenic |
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