| | LOC130068573, LOC130068624 +2631 more | Duplication | Schizophrenia +1 more | |
| | | 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 gain | See cases | |
| | LOC130068159, LOC130068160 +2633 more | Copy number gain | See cases | |
| | LOC111365170, LOC111365174 +2633 more | Copy number loss | See cases | |
| | LOC110120679, LOC110120680 +2633 more | Copy number gain | See cases | |
| | ITGB1BP2, ITIH6 +2632 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068277, LOC130068278 +2632 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 | |
| | 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 | |
| | | Copy number gain | See cases | |
| | LOC130068611, LOC130068612 +2632 more | Copy number loss | See cases | |
| | LOC130068404, LOC130068405 +2632 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC109396974, LOC109504725 +2632 more | Copy number gain | 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 | |
| | MIR1321, MIR1468 +1493 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | DMRTC1, DMRTC1B +2603 more | Copy number gain | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number gain | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068430, LOC130068431 +640 more | Copy number loss | See cases | |
| | LOC130068386, LOC130068387 +824 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 | |
| | LOC126863296, LOC126863297 +1467 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863270, LOC126863271 +263 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068371, LOC130068372 +1464 more | Copy number loss | See cases | |
| | KIF4A, LOC130068402 +206 more | Duplication | Xq13q21 duplication | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068418, LOC130068419 +44 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | ITGB1BP2, LOC126863276 (D41Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (R176Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (K182R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (A73V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (A93P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (S217F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (Q236E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (P115T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ITGB1BP2, LOC126863276 (H253R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (G137D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ITGB1BP2, LOC126863276 (V140M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Duplication | FG syndrome 1 | |
| | | Duplication | X-linked severe combined immunodeficiency | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |