| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group T | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fanconi anemia complementation group T | |
| | | Copy number gain | See cases | |
| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | ZNF747, ZNF747-DT +378 more | Copy number gain | See cases | |
| | LOC125146439, LOC125146440 +179 more | Copy number gain | See cases | |
| | | 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 | |
| | LOC130058756, LOC130058757 +170 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | 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 | |
| | LOC130058763, LOC130058764 +107 more | Copy number loss | Proximal 16p11.2 microdeletion syndrome | |
| | | Duplication | Autism spectrum disorder | |
| | LOC121847977, LOC130058809 +118 more | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058767, LOC130058768 +119 more | Deletion | See cases | GLikely pathogenic, low penetrance |
| | C16orf54, C16orf92 +105 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112352679, LOC112352680 +100 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058785, LOC130058786 +112 more | Duplication | Schizophrenia | |
| | KCTD13, LOC130058798 +112 more | Deletion | Autism | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058783, LOC130058784 +100 more | Deletion | Autism spectrum disorder | |
| | | Duplication | Autism spectrum disorder | |
| | | Copy number loss | See cases | |
| | KCTD13, LOC130058800 +104 more | Duplication | Autism | |
| | | 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 | |
| | | Copy number loss | 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 | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058760, LOC130058761 +111 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058769, LOC130058770 +111 more | Copy number gain | See cases | |
| | LOC130058759, LOC130058760 +111 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | 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 | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Autism spectrum disorder | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Schizophrenia | |
| | | Copy number gain | See cases | |
| | LOC130058776, LOC130058777 +99 more | Duplication | Schizophrenia | |
| | | Deletion | Schizophrenia | |
| | | Copy number loss | See cases | |
| | | Deletion | Proximal 16p11.2 microdeletion syndrome | |
| | LOC121587540, LOC121847976 +99 more | Duplication | Autism +1 more | |
| | LOC112694756, LOC116276452 +101 more | Deletion | Proximal 16p11.2 microdeletion syndrome | |
| | LOC121587541, LOC121847976 +105 more | Copy number loss | Epilepsy syndrome | GPathogenic, low penetrance |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |