| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | FAM242C, FLJ12825 +40 more | Copy number gain | See cases | |
| | HOXC4, HOXC5 +1 more (A15V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HOXC4, HOXC5 +1 more (N27H) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | HOXC4, HOXC5 +1 more (A43V) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | HOXC4, HOXC5 +1 more (V62M) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | HOXC4, HOXC5 +1 more (M83T +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | HOXC4, HOXC5 +1 more (C5S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HOXC4, HOXC5 +1 more (E107Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HOXC4, HOXC5 +1 more (W196R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HOXC4, HOXC5 +1 more (S122F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HOXC4, HOXC5 +1 more (G127S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HOXC4, HOXC5 +1 more (E145K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | Neurodevelopmental disorder | |
| | SLC15A5, SLC16A7 +1006 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |