| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Microsatellite (splice donor variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Microsatellite (frameshift variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (splice donor variant) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (splice acceptor variant) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (frameshift variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability 34 | |
| | | Duplication (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |