| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HBA-LCR, NPRL3 (S460fs +3 more) | Duplication (frameshift variant) | Epilepsy, familial focal, with variable foci 3 | |
| | HBA-LCR, NPRL3 (V333I +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
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