| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Acquired hemoglobin H disease +5 more | |
| | | Microsatellite (inframe_deletion) | Acquired hemoglobin H disease +2 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acquired hemoglobin H disease +2 more | |
| | | Single nucleotide variant (missense variant) | ATRX-related condition +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
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