| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | LOC130059829, LOC130059830 +1429 more | Copy number gain | See cases | |
| | LOC108281164, LOC109029536 +1426 more | Copy number gain | See cases | |
| | LOC130059834, LOC130059835 +1424 more | Copy number gain | See cases | |
| | LOC130059850, LOC130059851 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059772, LOC130059773 +832 more | Copy number gain | See cases | |
| | LOC132090418, LOC132090419 +788 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059506, LOC130059507 +447 more | Copy number loss | See cases | |
| | LOC130059746, LOC130059747 +719 more | Copy number gain | See cases | |
| | LOC130059500, LOC130059501 +691 more | Copy number gain | See cases | |
| | LOC132090448, LOC132090449 +677 more | Copy number gain | See cases | |
| | LOC130059591, LOC130059592 +670 more | Copy number gain | See cases | |
| | LOC130059691, LOC130059692 +566 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059603, LOC130059604 +227 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (frameshift variant) | Alveolar capillary dysplasia with pulmonary venous misalignment | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | C16orf74, C16orf95 +25 more | Copy number loss | not provided | |
| | | Duplication | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more | |
| | | Copy number gain | Syndromic anorectal malformation | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | FBXO31, ZCCHC14-DT +9 more | Deletion | Alveolar capillary dysplasia with pulmonary venous misalignment | |
| | ZCCHC14-DT, ZDHHC7 +20 more | Copy number loss | Alveolar capillary dysplasia with pulmonary venous misalignment | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | KCTD19, KIAA0513 +368 more | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | C16orf74, C16orf95 +18 more | 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 | |
| | | 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 gain | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |
| | C16orf46, C16orf74 +150 more | Translocation | not provided | |