| | | Copy number gain | See cases | |
| | LOC129937944, LOC129937945 +630 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02066, LOC123192021 +8 more | Copy number loss | See cases | |
| | LOC129937775, LOC129937776 +61 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AADACL2, AADACL2-AS1 (I208R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AADACL2, AADACL2-AS1 (T242I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AADACL2, AADACL2-AS1 (H269Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AADACL2-AS1, AADACL2 (L309S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AADACL2, AADACL2-AS1 (A373V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AADACL2, AADACL2-AS1 (R384H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Brachycephaly +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Global developmental delay | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |