| | | Duplication | Autism +1 more | |
| | | Copy number loss | See cases | |
| | LOC130067918, LOC130067919 +2633 more | Copy number loss | See cases | |
| | LOC130068528, LOC130068529 +2634 more | Copy number gain | See cases | |
| | ARMCX5, ARMCX5-GPRASP2 +2634 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068308, LOC130068309 +2634 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863325, LOC126863326 +2633 more | Copy number gain | See cases | |
| | LOC130068075, LOC130068076 +2633 more | Copy number loss | See cases | |
| | LOC130068278, LOC130068279 +2633 more | Copy number loss | See cases | |
| | LOC130068310, LOC130068311 +2633 more | 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 | |
| | LOC130067929, LOC130067930 +2633 more | Copy number gain | See cases | |
| | LOC130068219, LOC130068220 +2633 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863224, LOC126863225 +2632 more | Copy number gain | See cases | |
| | LOC121627971, LOC121627972 +2633 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863244, LOC126863245 +2633 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068098, LOC130068099 +2633 more | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number gain | See cases | |
| | LOC126863315, LOC126863316 +2633 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | LOC130068242, LOC130068243 +2103 more | Copy number loss | See cases | |
| | LOC126863280, LOC126863281 +2099 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068612, LOC130068613 +1467 more | Copy number gain | See cases | |
| | LOC126863288, LOC126863289 +1466 more | Copy number gain | See cases | |
| | LOC130068438, LOC130068439 +1464 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068496, LOC130068497 +1244 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863325, LOC126863326 +1225 more | Copy number loss | See cases | |
| | LOC130068537, LOC130068538 +1206 more | Copy number loss | See cases | |
| | LOC125467786, LOC125467787 +1203 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068661, LOC130068662 +1181 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068480, LOC130068481 +1169 more | Copy number gain | See cases | |
| | LOC101927830, LOC101928335 +1159 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863349, LOC129391309 +1143 more | Copy number gain | See cases | |
| | LOC121627985, LOC121627986 +1141 more | Copy number gain | See cases | |
| | MAGEA8-AS1, MAGEA9 +1075 more | Copy number loss | See cases | |
| | LOC130068847, LOC130068848 +1002 more | Copy number loss | See cases | |
| | LOC130068862, LOC130068863 +1001 more | 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 | |
| | MAGEA10, MAGEA11 +820 more | 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 loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC108281126, LOC110121199 +289 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HCFC1-AS1, IDH3G +200 more | Deletion | Ectodermal dysplasia and immunodeficiency 1 +5 more | |
| | | Deletion | not provided | |
| | | 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 | |
| | LOC107522039, LOC107838685 +4 more | Copy number loss | See cases | |
| | IL9R, LOC107522039 +5 more | Copy number loss | See cases | |
| | LOC107522039, LOC107838685 +2 more | Copy number loss | See cases | |
| | LOC107522039, LOC107838685 +2 more | Copy number loss | See cases | |
| | IL9R, LOC107522039 +4 more | Copy number loss | See cases | |
| | IL9R, LOC107522039 +4 more | Copy number gain | See cases | |
| | LOC107522039, LOC107838685 +2 more | Copy number loss | See cases | |
| | LOC107522039, LOC107838685 +2 more | Copy number gain | See cases | |
| | IL9R, LOC107522039 +3 more | Copy number loss | See cases | |
| | LOC107522039, LOC107838685 +2 more | 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 | |