| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HBB, LOC106099062
+1 more (Q40*) | Single nucleotide variant (nonsense) | not provided +12 more | |
| | | Single nucleotide variant (intron variant) | Beta-thalassemia HBB/LCRB +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | HBB-related condition +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Beta-thalassemia HBB/LCRB +13 more | |
| | | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | HBB, LOC106099062
+1 more (S10fs) | Duplication (frameshift variant) | not provided +12 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (E7V) | Single nucleotide variant (missense variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | HBA2, LOC106804612 (C105Y) | Single nucleotide variant (missense variant) | alpha Thalassemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost) | not provided +2 more | GConflicting classifications of pathogenicity |
| | HBA1, LOC106804613 (L110fs) | Deletion (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
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