| | | Copy number gain | See cases | |
| | | Inversion | Bilateral polymicrogyria | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | AKIRIN1, LOC129930195 (A16V) | Single nucleotide variant (missense variant) | not specified | |
| | AKIRIN1, LOC129930195 (G33S) | Single nucleotide variant (missense variant) | not specified | |
| | AKIRIN1, LOC129930195 (P34S) | Single nucleotide variant (missense variant) | not specified | |
| | AKIRIN1, LOC129930195 (R39T) | Single nucleotide variant (missense variant) | not specified | |
| | AKIRIN1, LOC129930195 (P45L) | Single nucleotide variant (missense variant) | not specified | |
| | AKIRIN1, LOC129930195 (T53N) | Single nucleotide variant (missense variant) | not specified | |
| | AKIRIN1, LOC129930195 (L58V) | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | AKIRIN1-related condition | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | AKIRIN1-related condition | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |