| | LOC129998085, LOC129998086 +904 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129998210, LOC129998211 +1148 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC111365192, LOC111413014 +281 more | Copy number loss | See cases | |
| | ABCB5, ADCYAP1R1 +387 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Deletion | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Cyclical vomiting syndrome | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number gain | not specified | |
| | ABCB5, ADCYAP1R1 +117 more | Copy number gain | not specified | |
| | FKBP14, HNRNPA2B1 +61 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Silver Russell Syndrome-related disorder | |
| | | 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 | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | | Copy number gain | See cases | |
| | ABCB5, ADCYAP1R1 +119 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Inversion | Childhood apraxia of speech | |