| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Polydactyly | |
| | | Copy number gain | not specified | |
| | | Duplication | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | PPP1R16A, PPP1R42 +593 more | 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 | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | LOC106903146, LOC129389984 +12 more | Copy number loss | See cases | |
| | LOC130000227, LOC130000228 +541 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | LOC130000405, LOC130000406 +489 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860374, LOC126860375 +417 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |