| | | Single nucleotide variant (splice donor variant) | Erythrocytosis, familial, 7 | |
| | HBA1, LOC106804613 (L110fs) | Deletion (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Hemoglobin H disease +4 more | |
| | HBA1, LOC106804613 (P120S) | Single nucleotide variant (missense variant) | alpha Thalassemia +5 more | |
| | | Single nucleotide variant (nonsense) | not specified +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | alpha Thalassemia +6 more | GPathogenic/Likely pathogenic |
| | HBA1, LOC106804613 (R32fs) | Microsatellite (frameshift variant) | alpha Thalassemia +5 more | |
| | HBA1, LOC106804613 (N79fs) | Deletion (frameshift variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | alpha Thalassemia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | alpha Thalassemia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | alpha Thalassemia +4 more | |
| | HBA1, LOC106804613 (Y141H) | Single nucleotide variant (missense variant) | HEMOGLOBIN ROUEN +2 more | |
| | | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | HBA1, LOC106804613 (R142H) | Single nucleotide variant (missense variant) | HEMOGLOBIN SURESNES +1 more | |
| | HBA1, LOC106804613 (D127H) | Single nucleotide variant (missense variant) | HEMOGLOBIN SASSARI +1 more | |
| | HBA1, LOC106804613 (A111D) | Single nucleotide variant (missense variant) | Heinz body anemia +5 more | |
| | HBA1, LOC106804613 (R142C) | Single nucleotide variant (missense variant) | HEMOGLOBIN NUNOBIKI +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | HEMOGLOBIN LOIRE +1 more | |
| | HBA1, LOC106804613 (R142L) | Single nucleotide variant (missense variant) | HEMOGLOBIN LEGNANO +1 more | |
| | | Single nucleotide variant (missense variant) | HEMOGLOBIN J (CAPE TOWN) +1 more | |
| | | Single nucleotide variant (missense variant) | HEMOGLOBIN CHESAPEAKE +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Heinz body anemia +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Erythrocytosis, familial, 7 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Heinz body anemia +4 more | GPathogenic/Likely pathogenic |
| | HBA2, LOC106804612 (K140E) | Single nucleotide variant (missense variant) | HEMOGLOBIN HANAMAKI +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 7 +1 more | |
| | HBA2, LOC106804612 (L126P) | Single nucleotide variant (missense variant) | Heinz body anemia +4 more | |
| | | Single nucleotide variant (missense variant) | HEMOGLOBIN COLUMBIA MISSOURI +1 more | |