| | LOC129932244, LOC129932245 +1147 more | Copy number gain | See cases | |
| | AVPR1B, AVPR1B-DT +278 more | Deletion | Autism | |
| | LOC126806027, LOC126806028 +723 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (nonsense +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Indel (nonsense +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |
| | | Single nucleotide variant (nonsense +1 more) | Epilepsy, familial adult myoclonic, 5 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 5 | |