| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | HBB, LOC106099062 +1 more (Q40*) | Single nucleotide variant (nonsense) | Hb SS disease +11 more | |
| | HBB, LOC106099062 +1 more (E27K) | Single nucleotide variant (missense variant) | Hereditary persistence of fetal hemoglobin +17 more | |
| | LOC107133510, HBB +1 more (E7V) | Single nucleotide variant (missense variant) | Hereditary persistence of fetal hemoglobin +16 more | |
| | HBB, LOC106099062 +1 more (E7K) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene