| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064626, LOC130064627 +215 more | Duplication | Schizophrenia | |
| | | Copy number loss | See cases | |
| | | Deletion | Syndromic craniosynostosis | |
| | | Deletion | Syndromic intellectual disability | |
| | | Copy number loss | Syndromic intellectual disability | |
| | | Deletion | Syndromic craniosynostosis | |
| | | Copy number loss | Syndromic intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DEDD2, LOC130064557 (R222Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DEDD2, LOC130064557 (R201W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CEACAM21, CEACAM3 +84 more | Duplication | Maple syrup urine disease +3 more | |
| | | Deletion | TWIST1-related craniosynostosis | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |