| | | 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) | 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 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | 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) | 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 | |
| | | 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 | |
| | | Duplication (frameshift variant) | Recurrent spontaneous abortion | |
| | | 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 | |
| | | 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 | |
| | TNFRSF11A, TXNL1 +267 more | Copy number gain | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | LOC130062514, LOC130062515 +1089 more | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062739, LOC130062740 +636 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LOC130062712, LOC130062713 +879 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862765, LOC126862766 +596 more | Copy number gain | See cases | |
| | LINC01902, LINC01903 +1005 more | Copy number gain | See cases | |
| | LOC114803473, LOC116276491 +636 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CCDC68, LINC01929 +18 more | Copy number gain | See cases | |
| | LOC130062692, LOC130062693 +664 more | Copy number loss | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | LOC130062661, LOC130062662 +340 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062608, LOC130062609 +1266 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |