| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | | Single nucleotide variant (intron variant) | beta Thalassemia +12 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062
+1 more (K18fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +13 more | |
| | HBB, LOC106099062
+1 more (S10fs) | Duplication (frameshift variant) | Beta-thalassemia HBB/LCRB +11 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (E7V) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +15 more | |
Click to view in NCBI Gene