| | DIP2C, LOC102723376 +14 more | Copy number loss | See cases | |
| | PROSER2-AS1, PRPF18 +680 more | Copy number loss | See cases | |
| | MIR5699, MIR6072 +496 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +54 more | Copy number loss | See cases | |
| | ADARB2, ADARB2-AS1 +276 more | Copy number loss | See cases | |
| | LOC126860819, LOC126860820 +680 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130003277, LOC130003278 +520 more | Copy number loss | See cases | |
| | DIP2C, LOC124403897 +12 more | Copy number loss | See cases | |
| | DIP2C, LOC124403897 +8 more | Copy number loss | See cases | |
| | LOC132090805, MANCR +482 more | Copy number gain | See cases | |
| | LOC124403897, LOC130003151 +3 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +66 more | Copy number loss | See cases | |
| | ACBD7, ACBD7-DCLRE1CP1 +837 more | Copy number gain | See cases | |
| | DIP2C, LOC124403897 +4 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +71 more | Copy number loss | See cases | |
| | LOC130003153, LOC130003154 +421 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +298 more | Copy number gain | See cases | |
| | ADARB2, ADARB2-AS1 +352 more | Copy number gain | See cases | |
| | DIP2C, LOC106783507 +10 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 30 | |
| | DIP2C, LOC126860802 +3 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +3 more) | Intellectual disability, autosomal dominant 30 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal dominant 30 +1 more | |
| | | Single nucleotide variant (nonsense +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal dominant 30 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal dominant 30 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +3 more) | Intellectual disability, autosomal dominant 30 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | See cases | |
| | | Copy number gain | See cases | |
| | DIP2C, LOC106783507 +9 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DIP2C, LOC126860802 +7 more | Copy number gain | See cases | |
| | DIP2C, LOC126860802 +7 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 5 | |
| | | Duplication (splice acceptor variant +3 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant +2 more) | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Deletion (intron variant) | Schizophrenia | |
| | DIP2C, LOC106783507 +9 more | Copy number gain | See cases | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Microsatellite (inframe_indel +3 more) | not provided | |
| | | Microsatellite (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 30 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Intellectual disability, autosomal dominant 30 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |