| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +2 more) | DDX3X-Related Neurodevelopmental Disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (nonsense +2 more) | Neoplasm | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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 | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, X-linked 102 | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Duplication (inframe_insertion +2 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Insertion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Microsatellite (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Microsatellite (frameshift variant +2 more) | Intellectual disability, X-linked 102 | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Duplication (5 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (5 prime UTR variant +1 more) | DDX3X-related disorder | |
| | | Microsatellite (5 prime UTR variant +1 more) | DDX3X-related disorder | |
| | | Duplication (5 prime UTR variant +1 more) | not provided | |
| | | Duplication (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Microsatellite (frameshift variant +3 more) | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, X-linked 102 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, X-linked 102 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, X-linked 102 | |
| | | Single nucleotide variant (synonymous variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (nonsense +3 more) | Intellectual disability, X-linked 102 +1 more | |
| | | Deletion (frameshift variant +3 more) | Marfanoid habitus and intellectual disability | |
| | | Single nucleotide variant (nonsense +3 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | Inborn genetic diseases +1 more | |
| | | 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 | |
| | | Deletion (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 | |
| | | Deletion (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability, X-linked 102 | GPathogenic/Likely pathogenic |