| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Hemoglobinopathy +2 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (S90fs) | Deletion (frameshift variant) | beta Thalassemia | |
| | HBB, LOC106099062
+1 more (F46fs) | Deletion (frameshift variant) | Dominant beta-thalassemia +1 more | |
| | HBB, LOC106099062
+1 more (Q40*) | Single nucleotide variant (nonsense) | alpha Thalassemia +11 more | |
| | | Deletion (splice acceptor variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +13 more | |
| | | Single nucleotide variant (splice donor variant) | beta Thalassemia +11 more | |
| | LOC106099062, LOC107133510
+1 more (S10fs) | Duplication (frameshift variant) | beta Thalassemia +11 more | |
| | HBB, LOC106099062
+1 more (K9fs) | Deletion (frameshift variant) | not provided +4 more | |
| | HBB, LOC106099062
+1 more (E7V) | Single nucleotide variant (missense variant) | HBB-related disorder +15 more | |
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