NM_000558.5(HBA1):c.237del (p.Asn79fs)Pathogenic
not provided|alpha Thalassemia|alpha Thalassemia;Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;Methemoglobinemia, alpha type|HBA1-related disorder
★★☆☆2026→ Residue 79
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)Pathogenic
not specified|Erythrocytosis, familial, 7|Hemoglobin H disease;Erythrocytosis, familial, 7;Heinz body anemia;alpha Thalassemia;Methemoglobinemia, alpha type|alpha Thalassemia
★★☆☆2026→ Residue 15
NM_000558.5(HBA1):c.300+1G>ALikely pathogenic
Erythrocytosis, familial, 7|alpha Thalassemia;Hemoglobin H disease;Erythrocytosis, familial, 7;Heinz body anemia;Methemoglobinemia, alpha type|not provided|alpha Thalassemia
★★☆☆2026
NM_000558.5(HBA1):c.349G>T (p.Glu117Ter)Pathogenic
not provided|alpha Thalassemia
★★☆☆2026→ Residue 117
NM_000558.5(HBA1):c.95+1G>APathogenic
not provided|alpha Thalassemia;Heinz body anemia;Methemoglobinemia, alpha type;Erythrocytosis, familial, 7;Hemoglobin H disease|alpha Thalassemia
★★☆☆2026
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)Pathogenic
alpha Thalassemia|not provided|Hemoglobin H disease;Erythrocytosis, familial, 7;Heinz body anemia;alpha Thalassemia;Methemoglobinemia, alpha type|HBA1-related disorder|Erythrocytosis, familial, 7
★★☆☆2026→ Residue 120
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)Pathogenic
not provided|alpha Thalassemia
★★☆☆2025→ Residue 60
NM_000558.5(HBA1):c.283_300+3dupPathogenic
Alpha-thalassemia, Dutch type|not provided|Erythrocytosis, familial, 7|alpha Thalassemia
★★☆☆2025
NM_000558.5(HBA1):c.96-2A>GPathogenic
not provided|alpha Thalassemia
★★☆☆2025
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)Likely pathogenic
HEMOGLOBIN TUNIS-BIZERTE|not provided|alpha Thalassemia|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;Methemoglobinemia, alpha type;alpha Thalassemia
★★☆☆2025→ Residue 130
NM_000558.5(HBA1):c.113CCA[2] (p.Thr40del)Pathogenic
HEMOGLOBIN TAYBE|not provided|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;Methemoglobinemia, alpha type;alpha Thalassemia|alpha Thalassemia
★★☆☆2025→ Residue 40
NM_000558.5(HBA1):c.44G>A (p.Trp15Ter)Pathogenic
alpha Thalassemia|Erythrocytosis, familial, 7;Hemoglobin H disease;alpha Thalassemia;Heinz body anemia;Methemoglobinemia, alpha type
★★☆☆2025→ Residue 15
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)Likely pathogenic
HEMOGLOBIN PETAH TIKVA|not provided|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;Methemoglobinemia, alpha type;alpha Thalassemia|alpha Thalassemia
★★☆☆2025→ Residue 111
NM_000558.5(HBA1):c.95+2_95+6delPathogenic
not provided|alpha Thalassemia|Erythrocytosis, familial, 7
★★☆☆2025
NM_000558.5(HBA1):c.60del (p.His21fs)Likely pathogenic
alpha Thalassemia
★★☆☆2025→ Residue 21
NM_000558.5(HBA1):c.187del (p.Val63fs)Pathogenic
not provided|alpha Thalassemia|alpha Thalassemia;Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;Methemoglobinemia, alpha type
★★☆☆2025→ Residue 63
NM_000558.5(HBA1):c.2T>C (p.Met1Thr)Pathogenic
Heinz body anemia;alpha Thalassemia;Erythrocytosis, familial, 7;Hemoglobin H disease;Methemoglobinemia, alpha type|not provided|alpha Thalassemia
★★☆☆2025→ Residue 1
NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)Pathogenic
not provided|alpha Thalassemia;Hemoglobin H disease;Methemoglobinemia, alpha type;Heinz body anemia;Erythrocytosis, familial, 7|alpha Thalassemia
★★☆☆2025→ Residue 22
NM_000558.5(HBA1):c.96-1G>APathogenic
not provided|alpha Thalassemia|Heinz body anemia;alpha Thalassemia;Hemoglobin H disease;Methemoglobinemia, alpha type;Erythrocytosis, familial, 7|HBA1-related disorder
★★☆☆2025
NM_000558.5(HBA1):c.2del (p.Met1fs)Likely pathogenic
alpha Thalassemia
★★☆☆2025→ Residue 1