| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932646, LOC129932647 +967 more | Copy number gain | See cases | |
| | LOC129932948, LOC129932949 +954 more | Copy number gain | See cases | |
| | LOC129932666, LOC129932667 +954 more | Copy number gain | See cases | |
| | LOC128772241, LOC128772242 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932613, LOC129932614 +949 more | Copy number gain | See cases | |
| | LOC129932859, LOC129932860 +869 more | Copy number gain | See cases | |
| | LOC129932775, LOC129932776 +655 more | Copy number gain | See cases | |
| | LOC129932908, LOC129932909 +270 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | LOC110121264, LOC110121265 +301 more | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | SNORA100, SPMIP3 +274 more | 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 | |
| | LOC129932958, LOC129932959 +253 more | 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 | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01743, LINC02774 +235 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932945, LOC129932946 +226 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | AHCTF1, C1orf202 +202 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) | Developmental and epileptic encephalopathy, 54 +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) | Developmental and epileptic encephalopathy, 54 +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 | |
| | | 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) | Developmental and epileptic encephalopathy, 54 +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) | Developmental and epileptic encephalopathy, 54 +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 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 54 | |