| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058727, LOC130058728 +287 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | ZNF747, ZNF747-DT +378 more | 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 | |
| | | Deletion | Schizophrenia | |
| | LOC125146439, LOC125146440 +179 more | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Neuronal ceroid lipofuscinosis | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058739, LOC130058740 +57 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058756, LOC130058757 +170 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +48 more | Copy number loss | See cases | |
| | LOC126862326, NUPR1 (R100C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862326, NUPR1 (G97E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862326, NUPR1 (R75S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862326, NUPR1 (E74K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862326, NUPR1 (E63K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862326, NUPR1 (R45C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862326, NUPR1 (R42W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862326, NUPR1 (D19E) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Brody myopathy | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Chromosome 16p12.2-p11.2 deletion syndrome | |
| | | Deletion | not provided | |
| | | Deletion | Neuronal ceroid lipofuscinosis | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Deletion | Neuronal ceroid lipofuscinosis | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Microcephaly | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | 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 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |