| | LOC130057806, LOC130057807 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057831, LOC130057832 +664 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057938, LOC130057939 +611 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121530602, LOC121530603 +517 more | Copy number gain | See cases | |
| | LOC129390732, LOC129390733 +500 more | Copy number gain | See cases | |
| | LOC126862240, LOC126862241 +311 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +422 more | Copy number gain | See cases | |
| | C15orf32, CHASERR +48 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Duplication (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CHD2, LOC126862227 +7 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not specified | |
| | | Microsatellite (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Deletion (frameshift variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Childhood epilepsy with centrotemporal spikes | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | CHD2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Microsatellite (frameshift variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |