| | | Single nucleotide variant (3 prime UTR variant) | Hemoglobinopathy +1 more | |
| | LOC107133510, LOC110006319 +1 more (V127E) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062 +1 more (S90N) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +2 more | GPathogenic/Likely pathogenic; other |
| | | Single nucleotide variant (intron variant) | HBB-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | HBB, LOC106099062 +1 more (R31T) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC106099062, LOC107133510 +1 more (K18fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +13 more | |
| | LOC106099062, LOC107133510 +1 more | Single nucleotide variant (synonymous variant) | HBB-related condition +2 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062 +1 more (V2M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +11 more | GConflicting classifications of pathogenicity |