| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Down syndrome | |
| | ADAMTS1, ADAMTS5 +216 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | COL6A2, KRTAP20-3 +220 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Autism | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | DYRK1A-related intellectual disability syndrome | |
| | LCA5L, LINC00111 +1159 more | Copy number gain | See cases | |
| | LOC126653353, LOC126653354 +1160 more | Copy number gain | See cases | |
| | KRTAP8-1, LCA5L +1160 more | Copy number gain | See cases | |
| | RNA5-8SN1, RNA5-8SN2 +1160 more | Copy number gain | See cases | |
| | LOC130066795, LOC130066796 +1156 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066804, LOC130066805 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126653353, LOC126653354 +1159 more | Copy number gain | See cases | |
| | LOC129388418, LOC129391214 +1160 more | 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 | |
| | LINC01424, LINC01436 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | B3GALT5, B3GALT5-AS1 +177 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066759, LOC130066760 +586 more | Copy number gain | See cases | |
| | LINC00515, LINC00649 +1159 more | Copy number gain | See cases | |
| | LOC130066731, LOC130066732 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ETS2-AS1, EVA1C +1157 more | Copy number gain | See cases | |
| | LOC130066726, LOC130066727 +1159 more | Copy number gain | See cases | |
| | LOC128849172, LOC129388418 +884 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01425, LINC01426 +1157 more | Copy number gain | See cases | |
| | LOC130066861, LOC130066862 +1155 more | Copy number gain | See cases | |
| | LOC130066468, LOC130066469 +1155 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 | |
| | LOC112694754, LOC114004360 +1159 more | Copy number gain | See cases | |