| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | LOC111718490, LOC112067719 +388 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E +328 more | Deletion | Thalassemia, gamma-delta-beta | |
| | LOC107133510, LOC110006319 +1 more | Deletion | beta Thalassemia | |
| | | Deletion | beta Thalassemia | |
| | | Indel | beta Thalassemia | |
| | | Single nucleotide variant | not specified | |
| | | Indel | Beta-thalassemia major +1 more | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Deletion | beta Thalassemia | |
| | LOC110006319, LOC107133510 +1 more | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant | beta Thalassemia | |
| | LOC107133510, LOC110006319 +1 more | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +10 more | |
| | | Deletion (stop lost +1 more) | not provided | |
| | | Deletion (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Duplication (3 prime UTR variant) | not specified +1 more | |
| | | Deletion (3 prime UTR variant) | beta Thalassemia | |
| | | Deletion (3 prime UTR variant) | Beta-plus-thalassemia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | beta Thalassemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Beta-plus-thalassemia | |
| | LOC110006319, LOC107133510 +1 more | Deletion (3 prime UTR variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Hemoglobinopathy +2 more | |
| | | Insertion (3 prime UTR variant) | Beta-plus-thalassemia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Beta-plus-thalassemia | |
| | | Single nucleotide variant (3 prime UTR variant) | beta Thalassemia | |
| | | Deletion (3 prime UTR variant) | beta Thalassemia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | LOC110006319, LOC107133510 +1 more | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | beta Thalassemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | alpha Thalassemia +10 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hb SS disease +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC107133510, LOC110006319 +1 more | Single nucleotide variant (3 prime UTR variant) | Fetal hemoglobin quantitative trait locus 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Fetal hemoglobin quantitative trait locus 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | LOC107133510, LOC110006319 +1 more | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | beta Thalassemia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Hb SS disease +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion (stop lost +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Beta-thalassemia HBB/LCRB +2 more | GConflicting classifications of pathogenicity |
| | HBB, LOC107133510 +1 more (H147Q) | Single nucleotide variant (missense variant) | HEMOGLOBIN KODAIRA II | |
| | HBB, LOC107133510 +1 more (H147Q) | Single nucleotide variant (missense variant) | HEMOGLOBIN KODAIRA | |
| | HBB, LOC107133510 +1 more (H147P) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC107133510 +1 more (H147L) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC107133510 +1 more (H147R) | Single nucleotide variant (missense variant) | HEMOGLOBIN COCHIN-PORT ROYAL | |
| | HBB, LOC107133510 +1 more (H147Y) | Single nucleotide variant (missense variant) | HEMOGLOBIN BOLOGNA-ST. ORSOLA | |
| | HBB, LOC107133510 +1 more (H147D) | Single nucleotide variant (missense variant) | HEMOGLOBIN HIROSHIMA +1 more | |
| | HBB, LOC107133510 +1 more (Y146*) | Single nucleotide variant (nonsense) | HEMOGLOBIN MCKEES ROCKS +1 more | |
| | HBB, LOC107133510 +1 more (Y146C) | Single nucleotide variant (missense variant) | not provided | |
| | HBB, LOC107133510 +1 more (Y146fs) | Insertion (frameshift variant) | HEMOGLOBIN CRANSTON | |
| | LOC110006319, HBB +1 more (Y146N) | Single nucleotide variant (missense variant) | Hemoglobinopathy | |
| | HBB, LOC107133510 +1 more (Y146H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC110006319, HBB +1 more (K145N) | Single nucleotide variant (missense variant) | not provided | |
| | HBB, LOC107133510 +1 more (K145N) | Single nucleotide variant (missense variant) | not provided | |
| | HBB, LOC107133510 +1 more (K145fs) | Deletion (frameshift variant) | HEMOGLOBIN TRENTO | |
| | HBB, LOC107133510 +1 more (K145M) | Single nucleotide variant (missense variant) | HEMOGLOBIN BARBIZON | |
| | LOC110006319, HBB +1 more (K145*) | Single nucleotide variant (nonsense) | not provided | |
| | LOC110006319, HBB +1 more (K145* +1 more) | Single nucleotide variant (nonsense +1 more) | HEMOGLOBIN KOCHI | |
| | | Deletion (inframe_indel) | HEMOGLOBIN BIRMINGHAM | |
| | HBB, LOC107133510 +1 more (K145E) | Single nucleotide variant (missense variant) | HEMOGLOBIN MITO | |
| | LOC107133510, LOC110006319 +1 more | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |