| | HBB, LOC107133510 +1 more (A141I) | Indel (missense variant) | Erythrocytosis, familial, 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Malaria, susceptibility to +10 more | |
| | | Single nucleotide variant (intron variant) | Malaria, susceptibility to +9 more | |
| | HBB, LOC106099062 +1 more (D100E) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | GConflicting classifications of pathogenicity |
| | LOC107133510, LOC110006319 +1 more | Single nucleotide variant (synonymous variant) | not provided +10 more | |
| | | Single nucleotide variant | Dominant beta-thalassemia +9 more | |
| | HBB, LOC107133510 +1 more (Y146N) | Single nucleotide variant (missense variant) | Hemoglobinopathy | |
| | HBB, LOC106099062 +1 more (G57S) | Single nucleotide variant (missense variant) | Methemoglobinemia, beta-globin type +10 more | |
| | | Single nucleotide variant | Dominant beta-thalassemia +10 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +10 more | |
| | HBB, LOC106099062 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN JAMAICA PLAIN | |
| | HBB, LOC106099062 +1 more (E91K +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (CAMEROON) | |
| | HBB, LOC106099062 +2 more (V12I +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN O (TIBESTI) | |
| | LOC107133510, LOC110006319 +2 more (E122Q +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN T (CAMBODIA) | |
| | HBB, LOC106099062 +2 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (TRAVIS) | |
| | HBB, LOC106099062 +1 more (K83N +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (PROVIDENCE) | |
| | HBB, LOC107133510 +2 more (E122K +1 more) | Single nucleotide variant (missense variant) | Sickle cell-Hemoglobin O Arab disease | |
| | HBB, LOC106099062 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (ANTILLES) | |
| | HBB, LOC106099062 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ZIGUINCHOR | |
| | HBB, LOC106099062 +1 more (D74N +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ZIGUINCHOR | |
| | HBB, LOC106099062 +1 more (E7K +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ARLINGTON PARK | |
| | HBB, LOC106099062 +1 more (R41S) | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant | Hemoglobinopathy +11 more | GConflicting classifications of pathogenicity |
| | LOC106099062, LOC107133510 +1 more | Single nucleotide variant (synonymous variant) | Erythrocytosis, familial, 6 +14 more | |
| | | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | HBB, LOC106099062 +1 more (S10fs) | Duplication (frameshift variant) | Beta-thalassemia HBB/LCRB +12 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062 +1 more (V68fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | HBB, LOC106099062 +1 more (L69F) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +9 more | GPathogenic/Likely pathogenic |
| | HBB, LOC107133510 +1 more (T124N) | Single nucleotide variant (missense variant) | Methemoglobinemia, beta-globin type +10 more | |
| | HBB, LOC106099062 +1 more (P37H) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062 +1 more (T88P) | Single nucleotide variant (missense variant) | not specified +10 more | |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +10 more | |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +11 more | |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Beta-thalassemia HBB/LCRB +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | | Single nucleotide variant (intron variant) | Beta-thalassemia HBB/LCRB +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Beta-thalassemia HBB/LCRB +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | HBB-related condition +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +13 more | |
| | LOC106099062, LOC107133510 +2 more | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | LOC107133510, HBB +1 more (W38fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | LOC106099062, LOC107133510 +1 more (P6fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | HBB, LOC106099062 +1 more (E7fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | HBB, LOC106099062 +1 more (F42fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +13 more | GPathogenic/Likely pathogenic |
| | LOC107133510, HBB +1 more (F46fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +10 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062 +1 more (K18fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +13 more | |
| | HBB, LOC106099062 +1 more (K62*) | Single nucleotide variant (nonsense) | not provided +10 more | |
| | LOC106099062, LOC107133510 +1 more (Q40*) | Single nucleotide variant (nonsense) | Beta-thalassemia HBB/LCRB +12 more | |
| | HBB, LOC106099062 +1 more (K18*) | Single nucleotide variant (nonsense) | Beta-thalassemia HBB/LCRB +10 more | |
| | HBB, LOC106099062 +1 more (D100Y) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC107133510 +1 more (H147P) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC106099062 +1 more (D100H) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC106099062 +1 more (H98L) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC106099062 +1 more (S90R) | Single nucleotide variant (missense variant) | HEMOGLOBIN VANDERBILT +1 more | |
| | HBB, LOC107133510 +1 more (P125Q) | Single nucleotide variant (missense variant) | not provided | |
| | HBB, LOC107133510 +1 more (H144P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC107133510, LOC110006319 +1 more (V110M) | Single nucleotide variant (missense variant) | Hemoglobinopathy +2 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062 +1 more (L15P) | Single nucleotide variant (missense variant) | not provided +10 more | |
| | HBB, LOC107133510 +1 more (A141T) | Single nucleotide variant (missense variant) | HEMOGLOBIN SAINT JACQUES +1 more | |
| | HBB, LOC106099062 +1 more (E7V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +16 more | |
| | LOC110006319, HBB +1 more (Y146C) | Single nucleotide variant (missense variant) | not provided | |
| | HBB, LOC106099062 +1 more (K83T) | Single nucleotide variant (missense variant) | HEMOGLOBIN RAHERE +1 more | |
| | HBB, LOC106099062 +1 more (K83N) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC106099062 +2 more (E102D) | Single nucleotide variant (missense variant) | HEMOGLOBIN POTOMAC +1 more | |
| | HBB, LOC106099062 +1 more (D100A) | Single nucleotide variant (missense variant) | HEMOGLOBIN RADCLIFFE +1 more | |
| | HBB, LOC106099062 +1 more (V35F) | Single nucleotide variant (missense variant) | not provided | |
| | HBB, LOC106099062 +1 more (V24F) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC106099062 +1 more (V21M) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +9 more | |
| | HBB, LOC107133510 +1 more (A143D) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC107133510 +1 more (E122K) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +11 more | GPathogenic/Likely pathogenic |
| | HBB, LOC107133510 +1 more (Y146*) | Single nucleotide variant (nonsense) | HEMOGLOBIN MCKEES ROCKS +1 more | |
| | HBB, LOC106099062 +1 more (H98Q) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC107133510 +1 more (H144Q) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 | |
| | HBB, LOC106099062 +1 more (D100N) | Single nucleotide variant (missense variant) | HEMOGLOBIN KEMPSEY +1 more | |
| | HBB, LOC106099062 +1 more (D100G) | Single nucleotide variant (missense variant) | HEMOGLOBIN HOTEL-DIEU +1 more | |
| | HBB, LOC107133510 +1 more (H147D) | Single nucleotide variant (missense variant) | HEMOGLOBIN HIROSHIMA +1 more | |
| | LOC107133510, HBB +1 more (K83M) | Single nucleotide variant (missense variant) | not provided | |
| | HBB, LOC106099062 +2 more (F104L) | Single nucleotide variant (missense variant) | HEMOGLOBIN HEATHROW +1 more | |
| | HBB, LOC106099062 +1 more (V12I) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +13 more | |
| | LOC107133510, HBB +1 more (E27K) | Single nucleotide variant (missense variant) | HBB-related condition +15 more | |
| | HBB, LOC106099062 +1 more (E23V) | Single nucleotide variant (missense variant) | not provided +9 more | |
| | HBB, LOC106099062 +1 more (S90N) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +2 more | GPathogenic/Likely pathogenic; other |
| | HBB, LOC107133510 +1 more (H147L) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | LOC107133510, HBB +1 more (G70S) | Single nucleotide variant (missense variant) | Methemoglobinemia, beta-globin type +11 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062 +1 more (D100V) | Single nucleotide variant (missense variant) | HEMOGLOBIN CHEMILLY +1 more | |
| | HBB, LOC106099062 +1 more (E7K) | Single nucleotide variant (missense variant) | HBB-related condition +15 more | |
| | LOC110006319, LOC107133510 +2 more (E102K) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC106099062 +1 more (L69H) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +2 more | |
| | HBB, LOC106099062 +2 more (P101L) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | LOC110006319, LOC107133510 +1 more (Y146H) | Single nucleotide variant (missense variant) | not provided | |
| | LOC106099062, LOC107133510 +1 more (D95H) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |
| | HBB, LOC107133510 +1 more (K145N) | Single nucleotide variant (missense variant) | not provided | |
| | LOC106099062, LOC107133510 +2 more (E102G) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | |