| | LOC129388541, LOC129388542 +570 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132088736, LOC132088737 +557 more | Copy number loss | See cases | |
| | LOC126805749, LOC126805750 +331 more | Copy number loss | See cases | |
| | LOC129930732, LOC129930733 +269 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | ANKRD13C, ANKRD13C-DT +80 more | Copy number loss | See cases | |
| | ANKRD13C, ANKRD13C-DT +25 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | SRSF11-related disorder | |
| | | 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) | SRSF11-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Intellectual disability, severe | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |