| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (nonsense) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Deletion (frameshift variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Indel (splice acceptor variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (splice acceptor variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Action myoclonus-renal failure syndrome | |
| | | Duplication | Progressive myoclonic epilepsy | |
| | | Duplication | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Duplication (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (nonsense) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Deletion (intron variant) | Action myoclonus-renal failure syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Microsatellite (frameshift variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (intron variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |