| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
| | | Deletion | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Deletion | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Deletion | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (synonymous variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Microsatellite (intron variant) | Schizophrenia | |
| | | Deletion (intron variant) | Schizophrenia | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +1 more | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (intron variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (synonymous variant) | Alpha thalassemia-X-linked intellectual disability syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Indel (frameshift variant) | not specified | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (splice donor variant) | Acquired hemoglobin H disease | |