| | MIR1468, MIR1587 +2598 more | Copy number gain | Klinefelter syndrome | |
| | DLG3, DLG3-AS1 (R117W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KIF4A, LOC130068402 +206 more | Duplication | Xq13q21 duplication | |
| | DLG3, DLG3-AS1 (R431W +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | DLG3, DLG3-AS1 (D405Y +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | DLG3, DLG3-AS1 (R427H +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 90 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DLG3, DLG3-AS1 (E132K +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | DLG3, DLG3-AS1 (Q120fs +1 more) | Deletion (frameshift variant) | not provided | |
| | DLG3, DLG3-AS1 (V459fs +1 more) | Microsatellite (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC130068573, LOC130068624 +2631 more | Duplication | Schizophrenia +1 more | |
| | DLG3, DLG3-AS1 (K391R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | DLG3, DLG3-AS1 (A463V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | 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 | |
| | LOC130068404, LOC130068405 +2632 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC109396974, LOC109504725 +2632 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ITGB1BP2, ITIH6 +2632 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068386, LOC130068387 +824 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | DMRTC1, DMRTC1B +2603 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 | |
| | | 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 | |
| | LOC126863296, LOC126863297 +1467 more | Copy number gain | See cases | |
| | LOC130068430, LOC130068431 +640 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC116309156, LOC116309157 +2593 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068611, LOC130068612 +2632 more | Copy number loss | See cases | |
| | LOC130068277, LOC130068278 +2632 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 | |
| | LOC126863270, LOC126863271 +263 more | Copy number gain | See cases | |
| | CENPVL1, CENPVL2 +2632 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863344, LOC126863345 +2632 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068159, LOC130068160 +2633 more | Copy number gain | See cases | |
| | MIR1321, MIR1468 +1493 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068344, LOC130068345 +2595 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068371, LOC130068372 +1464 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129391311, LOC129391312 +2585 more | Copy number gain | See cases | |
| | LOC125467792, LOC125467793 +2628 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC111365170, LOC111365174 +2633 more | Copy number loss | See cases | |
| | LOC110120679, LOC110120680 +2633 more | Copy number gain | See cases | |
| | DLG3-AS1, DLG3 (S458* +1 more) | Single nucleotide variant (nonsense) | Intellectual disability, X-linked 90 | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, X-linked 90 | |