| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390180, LOC129390181 +1008 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390190, LOC129390191 +610 more | Copy number loss | See cases | |
| | LOC124403968, LOC124403969 +220 more | Deletion | Intellectual developmental disorder, autosomal dominant 70 | |
| | | Deletion (3 prime UTR variant +1 more) | JMJD1C-related disorder | |
| | | Single nucleotide variant (stop lost +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | JMJD1C-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Deletion (inframe_deletion +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Deletion (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Duplication (inframe_insertion +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Duplication (intron variant) | Early myoclonic encephalopathy | |
| | | Duplication (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Duplication (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Early myoclonic encephalopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early myoclonic encephalopathy | |