| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HBB, LOC107133510
+1 more (T124N) | Single nucleotide variant (missense variant) | beta Thalassemia +10 more | |
| | | Single nucleotide variant (splice donor variant) | Dominant beta-thalassemia +11 more | |
| | HBB, LOC106099062
+1 more (G70S) | Single nucleotide variant (missense variant) | Hb SS disease +11 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (F46fs) | Deletion (frameshift variant) | beta Thalassemia +10 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062
+1 more (Q40*) | Single nucleotide variant (nonsense) | alpha Thalassemia +11 more | |
| | HBB, LOC106099062
+1 more (W38fs) | Deletion (frameshift variant) | Hemoglobinopathy +11 more | |
| | | Single nucleotide variant (intron variant) | not provided +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +13 more | |
| | LOC106099062, LOC107133510
+1 more (S10fs) | Duplication (frameshift variant) | beta Thalassemia +11 more | |
| | HBB, LOC106099062
+1 more (P6fs) | Deletion (frameshift variant) | beta Thalassemia +10 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +14 more | |
| | | Single nucleotide variant (3 prime UTR variant) | alpha Thalassemia +3 more | |
Click to view in NCBI Gene