| | LOC130068431, LOC130068432 +2632 more | Duplication | Autism +1 more | |
| | | Copy number loss | See cases | |
| | LOC126863269, LOC126863270 +2633 more | Copy number loss | See cases | |
| | LOC130068436, LOC130068437 +2634 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068322, LOC130068323 +2634 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863254, LOC126863255 +2634 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068048, LOC130068049 +1476 more | Copy number loss | See cases | |
| | ASMTL-AS1, ATP6AP2 +1629 more | Copy number loss | See cases | |
| | DCAF8L1, DCAF8L2 +2633 more | Copy number loss | See cases | |
| | LOC130068203, LOC130068204 +1933 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863275, LOC126863276 +2632 more | 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 loss | See cases | |
| | LOC121853053, LOC121853054 +2633 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863325, LOC126863326 +2632 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068015, LOC130068010 +2632 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863191, LOC126863192 +2633 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068490, LOC130068491 +1799 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | LOC130068278, LOC130068279 +2633 more | Copy number gain | See cases | |
| | LOC119407413, LOC119407414 +2633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01545, LINC01546 +2604 more | Copy number gain | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | LOC130068152, LOC130068153 +2594 more | Copy number gain | See cases | |
| | LOC130068468, LOC130068469 +2594 more | Copy number gain | See cases | |
| | LOC130067984, LOC130067985 +2596 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 | |
| | RPL36A, RPL36A-HNRNPH2 +640 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068846, LOC130068847 +1590 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC113875039, LOC114022705 +1467 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | SMARCA1, SMIM10 +1466 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | 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 (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided +1 more | |
| | | Duplication (inframe_insertion +1 more) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | not provided +1 more | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | NONO-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Microsatellite (splice donor variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability 34 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Heart, malformation of | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |