HBA2 — 320 ClinVar variants
All ClinVar germline HBA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
39 Pathogenic · 19 Pathogenic/Likely pathogenic · 73 Likely pathogenic · 35 Conflicting · 6 Benign · 2 Benign/Likely benign · 36 Likely benign · 110 Uncertain significance
Full HBA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll HBA2 variants
Pathogenic 39
- c.95+2_95+6del Expert panel HBA2-related alpha thalassemia spectrum
- c.*92A>G Expert panel HBA2-related alpha thalassemia spectrum
- p.Gly60Asp Expert panel HBA2-related alpha thalassemia spectrum
- p.Leu30Pro Expert panel HBA2-related alpha thalassemia spectrum
- p.Ter143Gln Expert panel HBA2-related alpha thalassemia spectrum
- c.95+1G>A Multiple submitters alpha thalassemia spectrum
- c.95+1G>C Multiple submitters alpha thalassemia spectrum
- c.96-2A>G Multiple submitters erythrocytosis, familial, 7
- p.His21fs Multiple submitters erythrocytosis, familial, 7
- p.Met1Thr Multiple submitters alpha thalassemia spectrum
- p.Phe44Val Multiple submitters thalassemia
- p.Ter143Lys Multiple submitters HBA2-related disorders
- p.Ter143Tyr Multiple submitters alpha thalassemia spectrum
- c.95+2T>C Single submitter alpha thalassemia spectrum
- c.96-1_137del Single submitter alpha thalassemia spectrum
- c.96-31_122del Single submitter alpha thalassemia spectrum
- c.96-34_117del Single submitter alpha thalassemia spectrum
- c.96-39_114del Single submitter alpha thalassemia spectrum
- c.96-40_114del Single submitter alpha thalassemia spectrum
- c.96-41_108del Single submitter alpha thalassemia spectrum
- c.96-44_105del Single submitter alpha thalassemia spectrum
- c.96-51_103del Single submitter alpha thalassemia spectrum
- c.96-8_109delinsGG Single submitter alpha thalassemia spectrum
- c.96-8_96-2del Single submitter alpha thalassemia spectrum
- p.Arg32Lys Single submitter alpha thalassemia spectrum
- p.Asp127Tyr Single submitter
- p.Asp95Asn Single submitter
- p.Gln55fs Single submitter alpha thalassemia spectrum
- p.Leu130Pro Single submitter alpha thalassemia spectrum
- p.Leu137Pro Single submitter Splenomegaly
- p.Leu92Pro Single submitter
- p.Ter143Leu Single submitter alpha thalassemia spectrum
- p.Thr40fs Single submitter alpha thalassemia spectrum
- p.Val71fs Single submitter Heinz body anemia
- p.Arg32Ser No assertion criteria Abnormal hemoglobin
- p.Gly19fs No assertion criteria alpha thalassemia spectrum
- p.His59Tyr No assertion criteria HBA2-related disorder
- p.Leu107Arg No assertion criteria alpha thalassemia spectrum
- p.Leu126Gln No assertion criteria alpha thalassemia spectrum
Pathogenic/Likely pathogenic 19
- c.*93_*94del Multiple submitters erythrocytosis, familial, 7
- c.*94A>G Multiple submitters HBA2-related disorders
- p.Ala116fs Multiple submitters alpha thalassemia spectrum
- p.Arg32fs Multiple submitters alpha thalassemia spectrum
- p.Asp48fs Multiple submitters alpha thalassemia spectrum
- p.Asp48His Multiple submitters erythrocytosis, familial, 7
- p.Asp95Tyr Multiple submitters HBA2-related disorders
- p.Cys105Tyr Multiple submitters erythrocytosis, familial, 7
- p.Gln55Ter Multiple submitters alpha thalassemia spectrum
- p.Glu24fs Multiple submitters erythrocytosis, familial, 7
- p.Leu126Pro Multiple submitters alpha thalassemia spectrum
- p.Leu67Pro Multiple submitters alpha thalassemia spectrum
- p.Met1Arg Multiple submitters alpha thalassemia spectrum
- p.Ser125Pro Multiple submitters alpha thalassemia spectrum
- p.Ter143Glu Multiple submitters alpha thalassemia spectrum
- p.Ter143Ser Multiple submitters erythrocytosis, familial, 7
- p.Trp15Ter Multiple submitters alpha thalassemia spectrum
- p.Tyr25Ter Multiple submitters alpha thalassemia spectrum
- p.Val108fs Multiple submitters alpha thalassemia spectrum
Likely pathogenic 73
- p.Cys105Arg Expert panel HBA2-related alpha thalassemia spectrum
- p.Leu126Arg Expert panel HBA2-related alpha thalassemia spectrum
- p.Phe44Leu Multiple submitters HBA2-related disorders
- c.300+1G>A Multiple submitters alpha thalassemia spectrum
- p.Glu24Ter Multiple submitters alpha thalassemia spectrum
- p.Gly16fs Multiple submitters alpha thalassemia spectrum
- p.Gly60Arg Multiple submitters alpha thalassemia spectrum
- c.301-12_*57del Single submitter alpha thalassemia spectrum
- c.301-1G>C Single submitter alpha thalassemia spectrum
- c.301-44_348delinsTACACCGCAGG Single submitter alpha thalassemia spectrum
- c.79_95+25del Single submitter alpha thalassemia spectrum
- c.87_95+7del Single submitter alpha thalassemia spectrum
- c.96-1G>A Single submitter alpha thalassemia spectrum
- c.96-23_117del Single submitter alpha thalassemia spectrum
- c.96-8_130del Single submitter alpha thalassemia spectrum
- c.96del Single submitter alpha thalassemia spectrum
- p.Ala22fs Single submitter alpha thalassemia spectrum
- p.Ala54fs Single submitter alpha thalassemia spectrum
- p.Ala66fs Single submitter alpha thalassemia spectrum
- p.Ala6fs Single submitter alpha thalassemia spectrum
- p.Ala72fs Single submitter alpha thalassemia spectrum
- p.Arg32Gly Single submitter alpha thalassemia spectrum
- p.Asn69fs Single submitter alpha thalassemia spectrum
- p.Asn79fs Single submitter alpha thalassemia spectrum
- p.Asp65fs Single submitter alpha thalassemia spectrum
- p.Asp7Ter Single submitter alpha thalassemia spectrum
- p.Glu117Ter Single submitter alpha thalassemia spectrum
- p.Glu28fs Single submitter Heinz body anemia
- p.Gly23fs Single submitter alpha thalassemia spectrum
- p.His46_Ala80del Single submitter alpha thalassemia spectrum
- p.His46fs Single submitter alpha thalassemia spectrum
- p.His51fs Single submitter alpha thalassemia spectrum
- p.His59_Ala64delinsPro Single submitter alpha thalassemia spectrum
- p.Leu107_Val108insTer Single submitter alpha thalassemia spectrum
- p.Leu110Arg Single submitter alpha thalassemia spectrum
- p.Leu110fs Single submitter alpha thalassemia spectrum
- p.Leu30fs Single submitter alpha thalassemia spectrum
- p.Leu3fs Single submitter alpha thalassemia spectrum
- p.Leu67fs Single submitter alpha thalassemia spectrum
- p.Leu81Pro Single submitter
- p.Leu84fs Single submitter alpha thalassemia spectrum
- p.Lys12fs Single submitter alpha thalassemia spectrum
- p.Lys41fs Single submitter alpha thalassemia spectrum
- p.Lys57Ter Single submitter alpha thalassemia spectrum
- p.Lys91fs Single submitter alpha thalassemia spectrum
- p.Met1Ile Single submitter alpha thalassemia spectrum
- p.Met1Lys Single submitter alpha thalassemia spectrum
- p.Met33fs Single submitter alpha thalassemia spectrum
- p.Met77fs Single submitter alpha thalassemia spectrum
- p.Phe44fs Single submitter alpha thalassemia spectrum
- p.Phe44Leu Single submitter alpha thalassemia spectrum
- p.Pro120fs Single submitter alpha thalassemia spectrum
- p.Pro38_Thr39insGlu Single submitter
- p.Pro45fs Single submitter alpha thalassemia spectrum
- p.Ser36fs Single submitter alpha thalassemia spectrum
- p.Ser36Pro Single submitter
- p.Ser50fs Single submitter Heinz body anemia
- p.Ser53fs Single submitter alpha thalassemia spectrum
- p.Ser85fs Single submitter alpha thalassemia spectrum
- p.Ter143His Single submitter alpha thalassemia spectrum
- p.Thr109fs Single submitter alpha thalassemia spectrum
- p.Thr39fs Single submitter alpha thalassemia spectrum
- p.Thr68fs Single submitter alpha thalassemia spectrum
- p.Tyr141His Single submitter
- p.Tyr25Asp Single submitter alpha thalassemia spectrum
- p.Tyr43fs Single submitter alpha thalassemia spectrum
- p.Tyr43Ter Single submitter alpha thalassemia spectrum
- p.Val18fs Single submitter alpha thalassemia spectrum
- p.Val63fs Single submitter alpha thalassemia spectrum
- p.Val94fs Single submitter alpha thalassemia spectrum
- p.Val97fs Single submitter alpha thalassemia spectrum
- p.Gly16Cys No assertion criteria alpha thalassemia spectrum
- p.Lys62= No assertion criteria alpha thalassemia spectrum
Conflicting classifications of pathogenicity 35
- c.300+8G>A Single submitter
- c.301-24delinsCTCGGCCC Single submitter alpha thalassemia spectrum
- c.*103G>A Single submitter
- p.His123Gln Single submitter alpha thalassemia spectrum
- p.Ala131Pro Single submitter erythrocytosis, familial, 7
- p.Ala13Asp Single submitter
- p.Ala14Pro Single submitter
- p.Ala22Pro Single submitter
- p.Ala6= Single submitter
- p.Ala64Asp Single submitter
- p.Ala72Glu Single submitter
- p.Asn79Lys Single submitter
- p.Asp127Asn Single submitter erythrocytosis, familial, 7
- p.Asp65Asn Single submitter
- p.Asp76Asn Single submitter
- p.Asp76His Single submitter
- p.Glu117Lys Single submitter
- p.Glu28Gly Single submitter alpha thalassemia spectrum
- p.Gly16Ser Single submitter
- p.Gly19Arg Single submitter
- p.Gly58Asp Single submitter
- p.His104Arg Single submitter
- p.His123Gln Single submitter erythrocytosis, familial, 7
- p.Leu137Met Single submitter
- p.Lys140fs Single submitter alpha thalassemia spectrum
- p.Lys17Glu Single submitter
- p.Lys91Asn Single submitter
- p.Met33Arg Single submitter alpha thalassemia spectrum
- p.Pro115Leu Single submitter
- p.Ser103Arg Single submitter hemoglobin H disease
- p.Ser50Arg Single submitter
- p.Trp15Arg Single submitter hemoglobin H disease
- p.Trp15Cys Single submitter alpha thalassemia spectrum
- p.Val63Met Single submitter
- p.Leu126= No assertion criteria Heinz body anemia
Benign 6
- c.95+27C>T Expert panel HBA2-related alpha thalassemia spectrum
- c.-24C>G Expert panel HBA2-related alpha thalassemia spectrum
- c.*107A>G Expert panel HBA2-related alpha thalassemia spectrum
- c.95+39C>T Multiple submitters
- c.-43G>C Multiple submitters alpha thalassemia spectrum
- p.Ser82Phe No assertion criteria alpha thalassemia spectrum
Benign/Likely benign 2
- c.300+55T>G Multiple submitters alpha thalassemia spectrum
- c.300+64A>G Multiple submitters
Likely benign 36
- p.Ser50Arg Multiple submitters
- c.95+36C>T Multiple submitters
- p.Ser125= Multiple submitters alpha thalassemia spectrum
- p.Thr138= Multiple submitters alpha thalassemia spectrum
- c.95+10C>T Single submitter
- c.95+11_95+34del Single submitter alpha thalassemia spectrum
- c.95+21C>G Single submitter
- c.95+40C>T Single submitter
- c.96-4G>A Single submitter
- c.96-5C>T Single submitter
- c.*15A>G Single submitter
- c.*8C>T Single submitter
- p.Ala20Glu Single submitter
- p.Ala89Gly Single submitter
- p.Asn69Lys Single submitter alpha thalassemia spectrum
- p.Gln55Arg Single submitter
- p.Gly16Asp Single submitter
- p.Gly52Arg Single submitter
- p.Leu137= Single submitter
- p.Leu3Arg Single submitter
- p.Lys100Asn Single submitter
- p.Lys128Thr Single submitter
- p.Lys8Glu Single submitter
- p.Lys91Glu Single submitter
- p.Ser134= Single submitter
- p.Thr119= Single submitter
- p.Thr135= Single submitter
- p.Val74= Single submitter
- c.*1G>C No assertion criteria HBA2-related disorder
- c.*38C>A No assertion criteria HBA2-related disorder
- c.*39C>G No assertion criteria HBA2-related disorder
- c.*40T>G No assertion criteria HBA2-related disorder
- c.*51C>A No assertion criteria HBA2-related disorder
- c.*81G>T No assertion criteria HBA2-related disorder
- p.Ala66Glu No assertion criteria alpha thalassemia spectrum
- p.Asn69= No assertion criteria alpha thalassemia spectrum
Uncertain significance 110
- c.*98T>C Expert panel HBA2-related alpha thalassemia spectrum
- c.300+3G>T Multiple submitters
- c.-59C>T Multiple submitters alpha thalassemia spectrum
- p.Asn10Lys Multiple submitters alpha thalassemia spectrum
- p.Asn98Lys Multiple submitters
- p.Glu24Lys Multiple submitters alpha thalassemia spectrum
- p.Gly23Asp Multiple submitters
- p.Gly26Asp Multiple submitters
- p.His104Tyr Multiple submitters
- c.300+34G>A Single submitter
- c.300+47C>A Single submitter
- c.301-13_301-12insGGCCCCC Single submitter
- c.301-15_301-10del Single submitter
- c.301-17C>G Single submitter
- c.301-60G>A Single submitter
- c.96-37A>C Single submitter
- c.-157C>T Single submitter thalassemia
- c.-15C>G Single submitter
- c.-181C>G Single submitter alpha thalassemia spectrum
- c.-217C>T Single submitter
- c.-3_-2del Single submitter
- c.-42C>T Single submitter
- c.-4C>T Single submitter HBA2-related disorder
- c.-70C>T Single submitter
- c.-76G>A Single submitter
- c.-79C>G Single submitter
- c.-79C>T Single submitter
- c.*108G>A Single submitter thalassemia
- c.*12G>C Single submitter
- c.*32G>T Single submitter
- c.*36G>T Single submitter
- c.*46C>A Single submitter
- c.*70C>A Single submitter
- p.Ala111= Single submitter
- p.Ala112Thr Single submitter
- p.Ala112Val Single submitter
- p.Ala27Val Single submitter
- p.Ala89Pro Single submitter Inborn genetic diseases
- p.Asp127Gly Single submitter
- p.Asp75Glu Single submitter
- p.Asp75Gly Single submitter
- p.Asp7del Single submitter
- p.Asp86Tyr Single submitter alpha thalassemia spectrum
- p.Glu117Gln Single submitter
- p.Glu28Asp Single submitter
- p.Gly60= Single submitter
- p.His88Gln Single submitter
- p.His88Pro Single submitter
- p.Leu102Pro Single submitter
- p.Leu67Arg Single submitter Heinz body anemia
- p.Leu67Gln Single submitter Heinz body anemia
- p.Leu67Met Single submitter Heinz body anemia
- p.Leu92Ile Single submitter
- p.Lys41Glu Single submitter
- p.Lys57Glu Single submitter
- p.Lys8Asn Single submitter alpha thalassemia spectrum
- p.Lys91Arg Single submitter
- p.Pro115Arg Single submitter
- p.Pro115Ser Single submitter
- p.Pro120Ala Single submitter hemoglobin H disease
- p.Pro78His Single submitter
- p.Pro96Leu Single submitter
- p.Pro96Ser Single submitter
- p.Ser125Phe Single submitter Inborn genetic diseases
- p.Ser132Pro Single submitter erythrocytosis, familial, 7
- p.Ser50Asn Single submitter
- p.Ser82Thr Single submitter
- p.Thr109Ala Single submitter
- p.Thr119Ile Single submitter
- p.Thr135Ile Single submitter Heinz body anemia
- p.Thr138fs Single submitter
- p.Thr39Ile Single submitter
- p.Thr42Ala Single submitter
- p.Thr68Ile Single submitter Heinz body anemia
- p.Val11Asp Single submitter
- p.Val122_His123insVal Single submitter
- c.300+3dup No assertion criteria alpha thalassemia spectrum
- c.96-3C>A No assertion criteria alpha thalassemia spectrum
- c.-1C>A No assertion criteria alpha thalassemia spectrum
- c.*106del No assertion criteria alpha thalassemia spectrum
- c.*13G>T No assertion criteria alpha thalassemia spectrum
- c.*14_*15insGGCC No assertion criteria alpha thalassemia spectrum
- c.*15_*16insTGCTTCTTG No assertion criteria alpha thalassemia spectrum
- c.*1G>A No assertion criteria alpha thalassemia spectrum
- c.*24_*25insGGG No assertion criteria alpha thalassemia spectrum
- c.*26C>G No assertion criteria alpha thalassemia spectrum
- c.*27_*28insTC No assertion criteria alpha thalassemia spectrum
- c.*30_*31del No assertion criteria alpha thalassemia spectrum
- c.*31_*33del No assertion criteria alpha thalassemia spectrum
- c.*47G>A No assertion criteria alpha thalassemia spectrum
- c.*62C>A No assertion criteria alpha thalassemia spectrum
- c.*80T>C No assertion criteria alpha thalassemia spectrum
- c.*87del No assertion criteria alpha thalassemia spectrum
- p.Ala64Thr No assertion criteria alpha thalassemia spectrum
- p.Ala66_Asp76del No assertion criteria alpha thalassemia spectrum
- p.Asn98Ile No assertion criteria alpha thalassemia spectrum
- p.Asp86Gly No assertion criteria alpha thalassemia spectrum
- p.Glu24Ala No assertion criteria alpha thalassemia spectrum
- p.Gly26Ser No assertion criteria alpha thalassemia spectrum
- p.His51Tyr No assertion criteria alpha thalassemia spectrum
- p.Lys41Asn No assertion criteria alpha thalassemia spectrum
- p.Met33Leu No assertion criteria alpha thalassemia spectrum
- p.Met77Ile No assertion criteria alpha thalassemia spectrum
- p.Phe118Val No assertion criteria alpha thalassemia spectrum
- p.Phe47Leu No assertion criteria alpha thalassemia spectrum
- p.Pro96Arg No assertion criteria alpha thalassemia spectrum
- p.Ser139= No assertion criteria alpha thalassemia spectrum
- p.Thr40= No assertion criteria alpha thalassemia spectrum
- p.Tyr25Cys No assertion criteria alpha thalassemia spectrum
- p.Val56Gly No assertion criteria alpha thalassemia spectrum