| | LOC130068573, LOC130068624 +2631 more | Duplication | Schizophrenia +1 more | |
| | | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068116, LOC130068117 +2633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067993, LOC130067994 +919 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | FRMPD4-AS1, FTHL17 +1024 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068159, LOC130068160 +2633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC111365170, LOC111365174 +2633 more | Copy number loss | See cases | |
| | LOC110120679, LOC110120680 +2633 more | Copy number gain | See cases | |
| | LOC130068097, LOC130068098 +1041 more | Copy number loss | See cases | |
| | ITGB1BP2, ITIH6 +2632 more | Copy number gain | See cases | |
| | LOC130068002, LOC130068003 +1069 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 | |
| | LOC130068016, LOC130068017 +1163 more | Copy number loss | See cases | |
| | LOC130067965, LOC130067966 +1008 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068277, LOC130068278 +2632 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GAGE12H, GAGE12I +1163 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863344, LOC126863345 +2632 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068156, LOC130068157 +2632 more | Copy number loss | See cases | |
| | LOC125467792, LOC125467793 +2628 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | CENPVL1, CENPVL2 +2632 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116309160, LOC116309161 +2631 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC121627957, LOC121627958 +1154 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068611, LOC130068612 +2632 more | Copy number loss | 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 | |
| | LOC130068209, LOC130068210 +1130 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863219, LOC126863220 +986 more | Copy number loss | See cases | |
| | LOC109396974, LOC109504725 +2632 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number gain | See cases | |
| | LINC00629, LINC00630 +2632 more | Copy number gain | See cases | |
| | LOC107652445, LOC107985657 +1163 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | MIR1321, MIR1468 +1493 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | DMRTC1, DMRTC1B +2603 more | Copy number gain | See cases | |
| | MIR1468, MIR1587 +2598 more | Copy number gain | Klinefelter syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC116309156, LOC116309157 +2593 more | Copy number gain | See cases | |
| | LOC130068344, LOC130068345 +2595 more | Copy number gain | See cases | |
| | LOC129391311, LOC129391312 +2585 more | Copy number gain | See cases | |
| | LOC130067992, LOC130067993 +488 more | Copy number gain | See cases | |
| | LOC130068092, LOC130068093 +960 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC126863217, SCML1 (H163R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Intellectual disability, X-linked 19 +5 more | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Duplication | Angelman syndrome-like +1 more | |
| | | Deletion | Angelman syndrome-like +1 more | |
| | | Copy number gain | 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 | |