| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PRKAG2, PRKAG2-AS1 +1052 more | Copy number gain | See cases | |
| | LOC129389895, LOC129389896 +1046 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRC-GCA9-3, TRC-GCA9-4 +1019 more | Copy number gain | See cases | |
| | LOC129999635, LOC129999636 +944 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EPHA1-AS1, EPHB6 +888 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129999716, LOC129999717 +847 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | LOC129999721, LOC129999722 +707 more | Copy number loss | See cases | |
| | LOC129999681, LOC129999682 +573 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999684, LOC129999685 +538 more | Copy number loss | See cases | |
| | LOC129999655, LOC129999656 +533 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABCF2, ABCF2-H2BK1 +315 more | Copy number gain | See cases | |
| | LOC129389944, LOC129389945 +271 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860233, LOC129999706 +190 more | Deletion | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Holoprosencephaly 3 | |
| | | Copy number loss | 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 | |
| | | Duplication | Triphalangeal thumb-polysyndactyly syndrome | |
| | LMBR1, LOC113687207 +5 more | Duplication | Triphalangeal thumb-polysyndactyly syndrome | |
| | LMBR1, LOC129999724 +2 more | Duplication | Laurin-Sandrow syndrome | |
| | LMBR1, LOC129999724 +2 more | Duplication | Laurin-Sandrow syndrome | |