| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Indel (frameshift variant) | not specified | |
| | | Microsatellite (inframe_insertion) | Alpha thalassemia-X-linked intellectual disability syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +4 more | |
| | | Single nucleotide variant (no sequence alteration) | Alpha thalassemia-X-linked intellectual disability syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |