| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Polymicrogyria | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Complex | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number gain | not specified | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | CXorf49B, CXorf51A +821 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 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 | See cases | |
| | SUPT20HL2, SYAP1 +177 more | Deletion | Neurodevelopmental disorder | |
| | | Duplication | Syndromic X-linked intellectual disability Lubs type | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | LOC130068573, LOC130068624 +2631 more | Duplication | Schizophrenia +1 more | |
| | | 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 loss | See cases | |
| | | 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 | |
| | | Copy number gain | not provided | |
| | FAM133A, FAM156A +819 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CT47A11, CT47A12 +818 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GAGE12F, GAGE12G +822 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 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MAGEE2, MTRNR2L10 +822 more | Copy number gain | See cases | |
| | LOC116309160, LOC116309161 +2631 more | Copy number gain | See cases | |
| | LOC130068156, LOC130068157 +2632 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068116, LOC130068117 +2633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068404, LOC130068405 +2632 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068097, LOC130068098 +1041 more | Copy number loss | See cases | |
| | LOC109396974, LOC109504725 +2632 more | Copy number gain | See cases | |
| | LOC130068209, LOC130068210 +1130 more | Copy number loss | See cases | |
| | ITGB1BP2, ITIH6 +2632 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863219, LOC126863220 +986 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | DMRTC1, DMRTC1B +2603 more | Copy number gain | See cases | |
| | LOC130067992, LOC130067993 +488 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number gain | See cases | |
| | LOC130068002, LOC130068003 +1069 more | Copy number loss | See cases | |
| | LINC00629, LINC00630 +2632 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |