NM_000517.6(HBA2):c.118dup (p.Thr40fs)Pathogenic
not provided|alpha Thalassemia
★★☆☆2026→ Residue 40
NM_000517.6(HBA2):c.45G>A (p.Trp15Ter)Pathogenic
not provided|alpha Thalassemia
★★☆☆2026→ Residue 15
NM_000517.6(HBA2):c.300+1G>ALikely pathogenic
not provided|alpha Thalassemia
★★☆☆2026
NM_000517.6(HBA2):c.95+1G>APathogenic
not provided|not specified|alpha Thalassemia
★★☆☆2026
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)Pathogenic
HEMOGLOBIN ICARIA|Hemoglobin H disease, nondeletional|not provided|alpha Thalassemia|beta Thalassemia
★★☆☆2026→ Residue 143
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro)Pathogenic
HEMOGLOBIN DARTMOUTH|not provided|alpha Thalassemia
★★☆☆2025→ Residue 67
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)Pathogenic
Hemoglobin Quong Sze|alpha Thalassemia|not provided|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;alpha Thalassemia
★★☆☆2025→ Residue 126
NM_000517.6(HBA2):c.373T>C (p.Ser125Pro)Pathogenic
not provided|alpha Thalassemia
★★☆☆2025→ Residue 125
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)Likely pathogenic
HEMOGLOBIN ZURICH ALBISRIEDEN|Alpha-thalassemia, Dutch type|alpha Thalassemia|not provided
★★☆☆2025→ Residue 60
NM_000517.4(HBA2):c.142G>C (p.Asp48His)Pathogenic
HEMOGLOBIN L (FERRARA)|HEMOGLOBIN SINAI|HEMOGLOBIN HASHARON|HEMOGLOBIN SEALY|alpha Thalassemia|not provided|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;alpha Thalassemia
★★☆☆2025→ Residue 48
NM_000517.6(HBA2):c.*92A>GPathogenic
Alpha-thalassemia-2, nondeletional|Hemoglobin H disease, nondeletional|not provided|alpha Thalassemia|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;alpha Thalassemia|Hemoglobin H disease|beta Thalassemia
★★☆☆2025
NM_000517.6(HBA2):c.283G>T (p.Asp95Tyr)Pathogenic
not provided|alpha Thalassemia
★★☆☆2025→ Residue 95
NM_000517.6(HBA2):c.96-2A>GPathogenic
Alpha-thalassemia, Dutch type|not provided|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;alpha Thalassemia|alpha Thalassemia
★★☆☆2025
NM_000517.6(HBA2):c.345del (p.Ala116fs)Pathogenic
not provided|alpha Thalassemia
★★☆☆2025→ Residue 116
NM_000517.6(HBA2):c.69del (p.Glu24fs)Pathogenic
not provided|alpha Thalassemia|Hemoglobin H disease;alpha Thalassemia;Heinz body anemia;Erythrocytosis, familial, 7
★★☆☆2025→ Residue 24
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)Pathogenic
alpha Thalassemia|not provided|alpha Thalassemia;Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease
★★☆☆2025→ Residue 25
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro)Pathogenic
HEMOGLOBIN AGRINIO|Hemoglobin H disease, nondeletional|not provided|alpha Thalassemia
★★☆☆2025→ Residue 30
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)Pathogenic
HEMOGLOBIN PLASENCIA|not provided|alpha Thalassemia|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;alpha Thalassemia
★★☆☆2025→ Residue 126
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)Pathogenic
HEMOGLOBIN SALLANCHES|Hemoglobin H disease, nondeletional|alpha Thalassemia|not provided|Hemoglobin H disease|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;alpha Thalassemia
★★☆☆2025→ Residue 105
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)Pathogenic
HEMOGLOBIN KOYA DORA|not provided|alpha Thalassemia|Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;alpha Thalassemia
★★☆☆2025→ Residue 143