| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 +1 more | |
| | | Indel (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene