| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HBA-LCR, NPRL3 (L149P +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | HBA-LCR, NPRL3 (T34M +3 more) | Single nucleotide variant (missense variant) | Epilepsy, familial focal, with variable foci 3 +1 more | |
| | HBA-LCR, NPRL3 (A147V +2 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Epilepsy, familial focal, with variable foci 3 +1 more | GConflicting classifications of pathogenicity |
| | HBA-LCR, NPRL3 (R123C +2 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Epilepsy, familial focal, with variable foci 3 +2 more | GConflicting classifications of pathogenicity |
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