| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125371434, LOC125371435 +879 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062661, LOC130062662 +340 more | Copy number loss | See cases | |
| | LOC130062755, LOC130062756 +644 more | Copy number loss | See cases | |
| | LOC130062777, LOC130062778 +636 more | Copy number loss | See cases | |
| | LOC130062712, LOC130062713 +636 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 (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 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Pitt-Hopkins syndrome | |
| | | Copy number gain | Trisomy 18 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | DLGAP1, DLGAP1-AS2 +174 more | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | LINC01415, LINC01879 +85 more | Copy number gain | Global developmental delay | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01879, LMAN1 +101 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFRSF11A, TXNL1 +267 more | Copy number gain | See cases | |