| | | Deletion (frameshift variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (splice acceptor variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (nonsense) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, progressive myoclonic, 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Microsatellite (frameshift variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Epilepsy, progressive myoclonic, 11 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Epilepsy, progressive myoclonic, 11 | |
| | | Single nucleotide variant (synonymous variant) | Epilepsy, progressive myoclonic, 11 +1 more | |