| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HBA-LCR, NPRL3 (R412C +3 more) | Single nucleotide variant (missense variant) | Epilepsy, familial focal, with variable foci 3 | |
| | HBA-LCR, NPRL3 (R424* +3 more) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
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