| | | Copy number gain | See cases | |
| | LOC120908923, LOC120947224 +1352 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932855, LOC129932856 +1168 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02765, LINC02768 +955 more | Copy number gain | See cases | |
| | LOC440742, LYPD8 +955 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932825, LOC129932826 +952 more | Copy number gain | See cases | |
| | LOC129932658, LOC129932659 +950 more | Copy number gain | See cases | |
| | LOC126806053, LOC126806054 +870 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132088686, LOC440742 +277 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806079, LOC126806080 +119 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | TFB2M, TRE-CTC2-1 +238 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRIM58, TRL-CAA4-1 +236 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | AHCTF1, C1orf202 +203 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Deletion | heterogeneous nuclear ribonucleoprotein G, human | |
| | | Indel (nonsense) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 +1 more | |
| | | Single nucleotide variant (nonsense) | Myoclonic absence seizure +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (frameshift variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | See cases | |
| | | Indel (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Microsatellite (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 54 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 54 | |