| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HBA-LCR, NPRL3 (S390P +3 more) | Single nucleotide variant (missense variant) | Epilepsy, familial focal, with variable foci 3 +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Epilepsy, familial focal, with variable foci 3 +1 more | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
Click to view in NCBI Gene