GATA1 — 416 ClinVar variants
All ClinVar germline GATA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →
48 Pathogenic · 6 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 22 Conflicting · 21 Benign · 16 Benign/Likely benign · 99 Likely benign · 189 Uncertain significance
Full GATA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 178
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 18
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GATA1 p.Ala58Val
Conflicting
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ala66Thr
Conflicting
Single submitter
GATA1-related cytopenia
-
GATA1 p.Arg113His
Conflicting
Single submitter
GATA1-related cytopenia
-
GATA1 p.Arg191Cys
Conflicting
Single submitter
GATA1-related cytopenia
-
GATA1 p.Arg253Trp
Conflicting
Single submitter
GATA1-related cytopenia
-
GATA1 p.Asp218Asn
Conflicting
Single submitter
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
-
GATA1 p.Glu114Lys
Conflicting
Single submitter
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
-
GATA1 p.Glu122Lys
Conflicting
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Glu134Asp
Conflicting
Single submitter
Inborn genetic diseases
-
GATA1 p.Gly208Arg
Conflicting
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly344Arg
Conflicting
Single submitter
Inborn genetic diseases
-
GATA1 p.Gly356Asp
Conflicting
Single submitter
Inborn genetic diseases
-
GATA1 p.Gly95Ser
Conflicting
Single submitter
hemolytic anemia due to erythrocyte adenosine deaminase overproduction
-
GATA1 p.Leu321Pro
Conflicting
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Leu386Pro
Conflicting
Single submitter
Inborn genetic diseases
-
GATA1 p.Val32Ile
Conflicting
Single submitter
Down syndrome
-
GATA1 p.Val349Met
Conflicting
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Val74Ile
Conflicting
Single submitter
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Predictors lean, ClinVar uncertain 131
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GATA1 p.Ala162Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATA1 p.Ala227Thr
Uncertain significance
Multiple submitters
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
-
GATA1 p.Ala97Val
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Arg140Gln
Uncertain significance
Multiple submitters
beta-thalassemia-X-linked thrombocytopenia syndrome
-
GATA1 p.Arg191His
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Arg298Gln
Uncertain significance
Multiple submitters
beta-thalassemia-X-linked thrombocytopenia syndrome
-
GATA1 p.Arg307Cys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
- GATA1 p.Asn226Ser Uncertain significance Multiple submitters
-
GATA1 p.Asp125Asn
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Cys199Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Glu328Lys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Gly229Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Gly275Ala
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Gly388Ala
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Gly397Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATA1 p.Ile242Thr
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Lys315Arg
Uncertain significance
Multiple submitters
beta-thalassemia-X-linked thrombocytopenia syndrome
- GATA1 p.Met297Thr Uncertain significance Multiple submitters
-
GATA1 p.Met399Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATA1 p.Phe3Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GATA1 p.Phe75Cys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Pro198Leu
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Thr101Met
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Thr138Ile
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Thr220Pro
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Thr304Ile
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Thr402Pro
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Thr54Ser
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Val250Ile
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Val291Met
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Val349Ala
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Ala162Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ala183Val
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ala326Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ala331Asp
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ala331Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Ala338Pro
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ala49Thr
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ala55Val
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ala56Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ala66Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ala68Thr
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Arg243Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Arg253Gln
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Arg298Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Arg307His
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Asn160Lys
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Asn206Lys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- GATA1 p.Asn238Lys Uncertain significance Single submitter
-
GATA1 p.Asn272Lys
Uncertain significance
Single submitter
thrombocytopenia
-
GATA1 p.Asn292Lys
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Cys110Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Gln17His
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gln303His
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Glu29Gln
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Glu328Gln
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Glu328Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Glu348Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly165Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly177Arg
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Gly208Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- GATA1 p.Gly221Ser Uncertain significance Single submitter
- GATA1 p.Gly229Asp Uncertain significance Single submitter
-
GATA1 p.Gly318Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Gly340Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly342Asp
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Gly342Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly347Glu
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Gly356Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly356Val
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Gly366Ser
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Gly366Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly392Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly5Asp
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Gly89Arg
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.His71Tyr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Leu124Met
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Leu156Phe
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Leu194Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Leu224Ile
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Leu23Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Leu295Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- GATA1 p.Leu353Pro Uncertain significance Single submitter
-
GATA1 p.Leu379Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Leu387Pro
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Leu411Pro
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Leu41Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Lys246Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Met335Leu
Uncertain significance
Single submitter
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- GATA1 p.Met380Ile Uncertain significance Single submitter
-
GATA1 p.Met84Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Pro111Ser
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro117Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Pro14His
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro14Leu
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro21Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Pro244Leu
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro330Ser
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro390Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Pro400Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Pro401Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Pro410Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Pro50Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Pro50Leu
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ser107Leu
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ser116Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- GATA1 p.Ser155Pro Uncertain significance Single submitter
-
GATA1 p.Ser170Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ser170Asn
Uncertain significance
Single submitter
GATA1-related cytopenia
- GATA1 p.Ser174Pro Uncertain significance Single submitter
-
GATA1 p.Ser26Cys
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ser274Asn
Uncertain significance
Single submitter
GATA1-related cytopenia
- GATA1 p.Ser310Thr Uncertain significance Single submitter
-
GATA1 p.Ser341Thr
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ser36Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ser373Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Ser393Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ser46Phe
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ser51Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Thr108Ser
Uncertain significance
Single submitter
GATA1-related cytopenia
- GATA1 p.Thr112Ile Uncertain significance Single submitter
-
GATA1 p.Thr266Met
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Thr27Ile
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Thr324Ile
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Thr406Ile
Uncertain significance
Single submitter
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
-
GATA1 p.Thr48Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- GATA1 p.Tyr185His Uncertain significance Single submitter
-
GATA1 p.Val158Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Val278Met
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Val370Met
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro390Thr
Uncertain significance
No assertion criteria
GATA1-related disorder
Predictors split 29
The independent predictors disagree with each other — read with care.
- GATA1 p.Arg140Trp Uncertain significance Multiple submitters
-
GATA1 p.Cys346Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
GATA1 p.Lys245Arg
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Thr256Ala
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Tyr62Asp
Uncertain significance
Multiple submitters
GATA1-related cytopenia
-
GATA1 p.Ala53Asp
Benign
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Arg64Met
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Arg70Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Cys199Arg
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Glu139Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- GATA1 p.Glu139Lys Uncertain significance Single submitter
-
GATA1 p.Glu200Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly192Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Gly368Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Gly374Glu
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Gly86Arg
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.His222Arg
Uncertain significance
Single submitter
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
-
GATA1 p.Ile249Thr
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Leu103Pro
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Lys246Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Met297Leu
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro143Leu
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro73Arg
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Pro73Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GATA1 p.Ser178Arg
Likely benign
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ser274Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Ser310Pro
Uncertain significance
Single submitter
GATA1-related cytopenia
-
GATA1 p.Ser412Arg
Benign
Single submitter
Diamond-Blackfan anemia
-
GATA1 p.Val77Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia
All GATA1 variants
Pathogenic 48
- c.220+1G>A Multiple submitters GATA1-related cytopenia
- p.Arg216Gln Multiple submitters Diamond-Blackfan anemia
- p.Ser30Ter Multiple submitters Diamond-Blackfan anemia
- p.Tyr78fs Multiple submitters GATA1-related cytopenia
- c.220+1del Single submitter GATA1-related cytopenia
- c.220+1G>C Single submitter GATA1-related cytopenia
- c.220+1G>T Single submitter Diamond-Blackfan anemia
- c.-19-2A>G Single submitter GATA1-related disorder
- p.Ala53fs Single submitter GATA1-related cytopenia
- p.Ala55fs Single submitter GATA1-related cytopenia
- p.Ala57fs Single submitter GATA1-related cytopenia
- p.Ala58fs Single submitter GATA1-related disorder
- p.Ala59fs Single submitter Diamond-Blackfan anemia
- p.Ala61fs Single submitter GATA1-related cytopenia
- p.Ala66fs Single submitter GATA1-related cytopenia
- p.Arg64fs Single submitter Diamond-Blackfan anemia
- p.Asn238fs Single submitter GATA1-related cytopenia
- p.Asp42fs Single submitter Diamond-Blackfan anemia
- p.Asp65fs Single submitter Diamond-Blackfan anemia
- p.Gln17fs Single submitter transient myeloproliferative syndrome
- p.Gln17Ter Single submitter GATA1-related cytopenia
- p.Glu13fs Single submitter GATA1-related disorder
- p.Glu2fs Single submitter transient myeloproliferative syndrome
- p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer Single submitter acute megakaryoblastic leukemia in down syndrome
- p.Leu41fs Single submitter GATA1-related cytopenia
- p.Leu60fs Single submitter Diamond-Blackfan anemia
- p.Met1fs Single submitter Diamond-Blackfan anemia
- p.Met1Ile Single submitter GATA1-related cytopenia
- p.Phe33fs Single submitter Diamond-Blackfan anemia
- p.Phe34fs Single submitter Diamond-Blackfan anemia
- p.Phe3fs Single submitter Diamond-Blackfan anemia
- p.Pro157fs Single submitter GATA1-related cytopenia
- p.Pro73= Single submitter acute megakaryoblastic leukemia in down syndrome
- p.Ser251fs Single submitter Diamond-Blackfan anemia
- p.Ser36fs Single submitter GATA1-related cytopenia
- p.Ser51fs Single submitter GATA1-related cytopenia
- p.Ser8fs Single submitter Diamond-Blackfan anemia
- p.Thr263Met Single submitter GATA1-related cytopenia
- p.Thr296Pro Single submitter thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- p.Tyr62_Glu67delinsTer Single submitter GATA1-related disorder
- p.Tyr62fs Single submitter Diamond-Blackfan anemia
- p.Tyr62Ter Single submitter Diamond-Blackfan anemia
- p.Val205Met Single submitter X-linked GATA1-related disorders
- p.Val74fs Single submitter transient myeloproliferative syndrome
- p.Val74Leu Single submitter Diamond-Blackfan anemia
- p.Asp218Tyr No assertion criteria Thrombocytopenia, X-linked, with dyserythropoietic anemia
- p.Gly208Ser No assertion criteria Thrombocytopenia, X-linked, without dyserythropoietic anemia
- p.Tyr63fs No assertion criteria LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC
Pathogenic/Likely pathogenic 6
- c.220+2T>C Multiple submitters Diamond-Blackfan anemia
- p.Asp218Gly Multiple submitters thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- p.His289Tyr Multiple submitters hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- p.Met1Thr Multiple submitters Diamond-Blackfan anemia
- p.Ser12Ter Multiple submitters beta-thalassemia-X-linked thrombocytopenia syndrome
- p.Val32fs Multiple submitters GATA1-related cytopenia
Likely pathogenic 15
- p.Arg216Trp Multiple submitters GATA1-related disorder
- c.220_220+9del Single submitter GATA1-related cytopenia
- c.-19-1G>T Single submitter GATA1-related cytopenia
- p.Arg217Thr Single submitter
- p.Glu200Lys Single submitter
- p.Leu103fs Single submitter GATA1-related disorder
- p.Met1Lys Single submitter GATA1-related disorder
- p.Ser116fs Single submitter GATA1-related disorder
- p.Ter414Arg Single submitter thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- p.Thr267Ile Single submitter
- p.Thr52fs Single submitter
- p.Tyr63Ter Single submitter GATA1-related disorder
- c.210_220+1del No assertion criteria GATA1-related disorder
- p.Ala227Val No assertion criteria anemia
- p.Ser46fs No assertion criteria GATA1-related disorder
Conflicting classifications of pathogenicity 22
- c.598+3G>A Single submitter Diamond-Blackfan anemia
- c.870+8C>T Single submitter Diamond-Blackfan anemia
- c.871-7T>C Single submitter Diamond-Blackfan anemia
- p.Ala58Val Single submitter Diamond-Blackfan anemia ⚠
- p.Ala66Thr Single submitter GATA1-related cytopenia ⚠
- p.Arg113His Single submitter GATA1-related cytopenia ⚠
- p.Arg191Cys Single submitter GATA1-related cytopenia ⚠
- p.Arg253Trp Single submitter GATA1-related cytopenia ⚠
- p.Asp218Asn Single submitter thrombocytopenia, X-linked, with or without dyserythropoietic anemia ⚠
- p.Glu114Lys Single submitter X-linked dyserythropoetic anemia with abnormal platelets and neutropenia ⚠
- p.Glu122Lys Single submitter Diamond-Blackfan anemia ⚠
- p.Glu134Asp Single submitter Inborn genetic diseases ⚠
- p.Gly208Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Gly344Arg Single submitter Inborn genetic diseases ⚠
- p.Gly356Asp Single submitter Inborn genetic diseases ⚠
- p.Gly95Ser Single submitter hemolytic anemia due to erythrocyte adenosine deaminase overproduction ⚠
- p.Leu321Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Leu386Pro Single submitter Inborn genetic diseases ⚠
- p.Ser169= Single submitter Diamond-Blackfan anemia
- p.Val32Ile Single submitter Down syndrome ⚠
- p.Val349Met Single submitter Diamond-Blackfan anemia ⚠
- p.Val74Ile Single submitter X-linked dyserythropoetic anemia with abnormal platelets and neutropenia ⚠
Benign 21
- c.-19-42= Multiple submitters
- c.221-20T>A Single submitter GATA1-related cytopenia
- c.744+5G>A Single submitter Diamond-Blackfan anemia
- c.871-20C>T Single submitter Diamond-Blackfan anemia
- c.-19-70dup Single submitter
- p.Ala22Thr Single submitter GATA1-related cytopenia
- p.Ala53Asp Single submitter Diamond-Blackfan anemia ⚠
- p.Arg113= Single submitter GATA1-related cytopenia
- p.Asn160Ser Single submitter Diamond-Blackfan anemia
- p.Asp144= Single submitter GATA1-related cytopenia
- p.Glu200= Single submitter Diamond-Blackfan anemia
- p.Gly221= Single submitter GATA1-related cytopenia
- p.Gly368Ala Single submitter GATA1-related cytopenia
- p.Gly392= Single submitter Diamond-Blackfan anemia
- p.Gly99Ser Single submitter GATA1-related cytopenia
- p.Pro198= Single submitter Diamond-Blackfan anemia
- p.Pro390= Single submitter Diamond-Blackfan anemia
- p.Pro410= Single submitter GATA1-related cytopenia
- p.Ser412Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Ser413Pro Single submitter GATA1-related cytopenia
- p.Val371Met Single submitter GATA1-related cytopenia
Benign/Likely benign 16
- c.599-16_599-14del Multiple submitters GATA1-related cytopenia
- c.599-9C>T Multiple submitters Diamond-Blackfan anemia
- c.745-9G>A Multiple submitters Diamond-Blackfan anemia
- p.Ala22Gly Multiple submitters Diamond-Blackfan anemia
- p.Ala55Thr Multiple submitters Diamond-Blackfan anemia
- p.Ala58= Multiple submitters Diamond-Blackfan anemia
- p.Asn226= Multiple submitters Diamond-Blackfan anemia
- p.Glu67= Multiple submitters Diamond-Blackfan anemia
- p.His71Arg Multiple submitters GATA1-related cytopenia
- p.His71Pro Multiple submitters GATA1-related cytopenia
- p.Lys314= Multiple submitters Diamond-Blackfan anemia
- p.Pro38Leu Multiple submitters Diamond-Blackfan anemia
- p.Thr391= Multiple submitters Diamond-Blackfan anemia
- p.Thr403Ile Multiple submitters Diamond-Blackfan anemia
- p.Thr406= Multiple submitters Diamond-Blackfan anemia
- p.Val121Met Multiple submitters Diamond-Blackfan anemia
Likely benign 99
- c.220+10T>C Multiple submitters Diamond-Blackfan anemia
- p.Ala120= Multiple submitters Diamond-Blackfan anemia
- p.Arg298= Multiple submitters GATA1-related cytopenia
- p.Arg64= Multiple submitters Diamond-Blackfan anemia
- p.Asn160= Multiple submitters Diamond-Blackfan anemia
- p.Cys207= Multiple submitters Diamond-Blackfan anemia
- p.Leu387= Multiple submitters GATA1-related cytopenia
- p.Pro277= Multiple submitters GATA1-related cytopenia
- p.Pro50= Multiple submitters Diamond-Blackfan anemia
- p.Thr263= Multiple submitters Diamond-Blackfan anemia
- p.Thr266= Multiple submitters Diamond-Blackfan anemia
- p.Thr54= Multiple submitters Diamond-Blackfan anemia
- c.220+12G>A Single submitter Diamond-Blackfan anemia
- c.220+13A>C Single submitter Diamond-Blackfan anemia
- c.220+16G>A Single submitter GATA1-related cytopenia
- c.220+17G>T Single submitter GATA1-related cytopenia
- c.598+14A>T Single submitter Diamond-Blackfan anemia
- c.598+17A>G Single submitter GATA1-related cytopenia
- c.599-10A>G Single submitter
- c.599-13T>C Single submitter GATA1-related cytopenia
- c.870+12C>A Single submitter GATA1-related cytopenia
- c.871-11C>T Single submitter Diamond-Blackfan anemia
- c.-19-17C>G Single submitter
- c.-19-5C>T Single submitter
- c.*1G>A Single submitter
- c.*2G>C Single submitter
- p.Ala49= Single submitter Diamond-Blackfan anemia
- p.Ala94= Single submitter Diamond-Blackfan anemia
- p.Ala97= Single submitter GATA1-related cytopenia
- p.Arg113Cys Single submitter GATA1-related cytopenia
- p.Arg113Leu Single submitter GATA1-related cytopenia
- p.Arg243= Single submitter GATA1-related cytopenia
- p.Arg247His Single submitter Diamond-Blackfan anemia
- p.Arg293= Single submitter Diamond-Blackfan anemia
- p.Arg317= Single submitter Diamond-Blackfan anemia
- p.Arg317Gln Single submitter GATA1-related cytopenia
- p.Arg70= Single submitter GATA1-related cytopenia
- p.Asn280= Single submitter GATA1-related cytopenia
- p.Asp115= Single submitter Diamond-Blackfan anemia
- p.Asp115Tyr Single submitter GATA1-related cytopenia
- p.Asp125= Single submitter GATA1-related cytopenia
- p.Asp167= Single submitter Diamond-Blackfan anemia
- p.Asp300= Single submitter GATA1-related cytopenia
- p.Cys110= Single submitter
- p.Cys228= Single submitter Diamond-Blackfan anemia
- p.Gln237= Single submitter GATA1-related cytopenia
- p.Glu13= Single submitter GATA1-related cytopenia
- p.Glu85= Single submitter GATA1-related cytopenia
- p.Gly177= Single submitter GATA1-related cytopenia
- p.Gly31= Single submitter Diamond-Blackfan anemia
- p.Gly323= Single submitter Diamond-Blackfan anemia
- p.Gly339= Single submitter GATA1-related cytopenia
- p.Gly340= Single submitter GATA1-related cytopenia
- p.Gly347= Single submitter Diamond-Blackfan anemia
- p.Gly352= Single submitter GATA1-related cytopenia
- p.Gly356= Single submitter Diamond-Blackfan anemia
- p.Gly368Ser Single submitter Diamond-Blackfan anemia
- p.Gly384= Single submitter Diamond-Blackfan anemia
- p.Gly7= Single submitter GATA1-related cytopenia
- p.Gly86= Single submitter GATA1-related cytopenia
- p.Gly89Glu Single submitter Diamond-Blackfan anemia
- p.His362= Single submitter Diamond-Blackfan anemia
- p.Leu124= Single submitter Diamond-Blackfan anemia
- p.Leu133= Single submitter GATA1-related cytopenia
- p.Leu353= Single submitter GATA1-related cytopenia
- p.Leu363= Single submitter GATA1-related cytopenia
- p.Leu367= Single submitter
- p.Leu411= Single submitter GATA1-related cytopenia
- p.Met399Thr Single submitter Diamond-Blackfan anemia
- p.Phe382= Single submitter Diamond-Blackfan anemia
- p.Pro16= Single submitter Diamond-Blackfan anemia
- p.Pro294= Single submitter GATA1-related cytopenia
- p.Pro395= Single submitter GATA1-related cytopenia
- p.Pro79= Single submitter Diamond-Blackfan anemia
- p.Pro92= Single submitter Diamond-Blackfan anemia
- p.Ser161Thr Single submitter Diamond-Blackfan anemia
- p.Ser178Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Ser187= Single submitter GATA1-related cytopenia
- p.Ser274= Single submitter Diamond-Blackfan anemia
- p.Ser341= Single submitter GATA1-related cytopenia
- p.Ser343= Single submitter Diamond-Blackfan anemia
- p.Ser393= Single submitter GATA1-related cytopenia
- p.Ser72= Single submitter Diamond-Blackfan anemia
- p.Thr101= Single submitter GATA1-related cytopenia
- p.Thr176= Single submitter Diamond-Blackfan anemia
- p.Thr193= Single submitter Diamond-Blackfan anemia
- p.Thr304= Single submitter GATA1-related cytopenia
- p.Thr396= Single submitter Diamond-Blackfan anemia
- p.Thr405= Single submitter Diamond-Blackfan anemia
- p.Thr52= Single submitter GATA1-related cytopenia
- p.Tyr285= Single submitter Diamond-Blackfan anemia
- p.Tyr69= Single submitter Diamond-Blackfan anemia
- p.Tyr78= Single submitter GATA1-related cytopenia
- p.Tyr93= Single submitter Diamond-Blackfan anemia
- p.Tyr98= Single submitter Diamond-Blackfan anemia
- p.Val109= Single submitter GATA1-related cytopenia
- p.Val77= Single submitter GATA1-related cytopenia
- c.-19-12C>T No assertion criteria GATA1-related disorder
- p.Arg191= No assertion criteria GATA1-related disorder
Uncertain significance 189
- p.Ala162Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala184Asn Multiple submitters hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- p.Ala227Thr Multiple submitters thrombocytopenia, X-linked, with or without dyserythropoietic anemia ⚠
- p.Ala97Val Multiple submitters GATA1-related cytopenia ⚠
- p.Arg140Gln Multiple submitters beta-thalassemia-X-linked thrombocytopenia syndrome ⚠
- p.Arg140Trp Multiple submitters ⚠
- p.Arg191His Multiple submitters GATA1-related cytopenia ⚠
- p.Arg298Gln Multiple submitters beta-thalassemia-X-linked thrombocytopenia syndrome ⚠
- p.Arg307Cys Multiple submitters Diamond-Blackfan anemia ⚠
- p.Arg317Trp Multiple submitters Diamond-Blackfan anemia
- p.Asn226Ser Multiple submitters ⚠
- p.Asp125Asn Multiple submitters Diamond-Blackfan anemia ⚠
- p.Cys199Ser Multiple submitters Diamond-Blackfan anemia ⚠
- p.Cys346Arg Multiple submitters Diamond-Blackfan anemia ⚠
- p.Glu328Lys Multiple submitters Diamond-Blackfan anemia ⚠
- p.Gly192Glu Multiple submitters Inborn genetic diseases
- p.Gly229Ser Multiple submitters Diamond-Blackfan anemia ⚠
- p.Gly275Ala Multiple submitters GATA1-related cytopenia ⚠
- p.Gly388Ala Multiple submitters Diamond-Blackfan anemia ⚠
- p.Gly397Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile242Thr Multiple submitters GATA1-related cytopenia ⚠
- p.Lys245Arg Multiple submitters GATA1-related cytopenia ⚠
- p.Lys315Arg Multiple submitters beta-thalassemia-X-linked thrombocytopenia syndrome ⚠
- p.Met297Thr Multiple submitters ⚠
- p.Met335Ile Multiple submitters Diamond-Blackfan anemia
- p.Met399Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe3Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe75Cys Multiple submitters Diamond-Blackfan anemia ⚠
- p.Pro198Leu Multiple submitters Diamond-Blackfan anemia ⚠
- p.Thr101Met Multiple submitters Diamond-Blackfan anemia ⚠
- p.Thr138Ile Multiple submitters Diamond-Blackfan anemia ⚠
- p.Thr220Pro Multiple submitters GATA1-related cytopenia ⚠
- p.Thr256Ala Multiple submitters GATA1-related cytopenia ⚠
- p.Thr304Ile Multiple submitters GATA1-related cytopenia ⚠
- p.Thr402Pro Multiple submitters GATA1-related cytopenia ⚠
- p.Thr54Ser Multiple submitters GATA1-related cytopenia ⚠
- p.Tyr364Ter Multiple submitters Diamond-Blackfan anemia
- p.Tyr62Asp Multiple submitters GATA1-related cytopenia ⚠
- p.Val250Ile Multiple submitters GATA1-related cytopenia ⚠
- p.Val291Met Multiple submitters GATA1-related cytopenia ⚠
- p.Val349Ala Multiple submitters GATA1-related cytopenia ⚠
- c.205_220+8del Single submitter
- c.220+2dup Single submitter GATA1-related cytopenia
- c.220+5C>T Single submitter Diamond-Blackfan anemia
- c.221-3C>T Single submitter Diamond-Blackfan anemia
- c.221-4A>G Single submitter Diamond-Blackfan anemia
- c.745-3T>C Single submitter GATA1-related cytopenia
- c.870+5C>T Single submitter Diamond-Blackfan anemia
- c.870+6G>A Single submitter GATA1-related cytopenia
- p.Ala162Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala183Val Single submitter GATA1-related cytopenia ⚠
- p.Ala326Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala331Asp Single submitter GATA1-related cytopenia ⚠
- p.Ala331Val Single submitter Inborn genetic diseases ⚠
- p.Ala338Pro Single submitter GATA1-related cytopenia ⚠
- p.Ala49Thr Single submitter GATA1-related cytopenia ⚠
- p.Ala55Val Single submitter GATA1-related cytopenia ⚠
- p.Ala56Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala59del Single submitter GATA1-related cytopenia
- p.Ala66Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Ala68Thr Single submitter GATA1-related cytopenia ⚠
- p.Arg243Trp Single submitter Diamond-Blackfan anemia ⚠
- p.Arg253Gln Single submitter GATA1-related cytopenia ⚠
- p.Arg298Trp Single submitter Diamond-Blackfan anemia ⚠
- p.Arg307His Single submitter Diamond-Blackfan anemia ⚠
- p.Arg64Met Single submitter GATA1-related cytopenia ⚠
- p.Arg70Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Asn160Lys Single submitter GATA1-related cytopenia ⚠
- p.Asn206Lys Single submitter Diamond-Blackfan anemia ⚠
- p.Asn238Lys Single submitter ⚠
- p.Asn272Lys Single submitter thrombocytopenia ⚠
- p.Asn292Lys Single submitter GATA1-related cytopenia ⚠
- p.Asp167His Single submitter thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- p.Cys110Ser Single submitter Inborn genetic diseases ⚠
- p.Cys199Arg Single submitter GATA1-related cytopenia ⚠
- p.Gln17His Single submitter Diamond-Blackfan anemia ⚠
- p.Gln303His Single submitter GATA1-related cytopenia ⚠
- p.Glu139Gly Single submitter Diamond-Blackfan anemia ⚠
- p.Glu139Lys Single submitter ⚠
- p.Glu200Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Glu29Gln Single submitter GATA1-related cytopenia ⚠
- p.Glu328Gln Single submitter GATA1-related cytopenia ⚠
- p.Glu328Gly Single submitter Inborn genetic diseases ⚠
- p.Glu348Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Glu39= Single submitter Diamond-Blackfan anemia
- p.Glu85Lys Single submitter Diamond-Blackfan anemia
- p.Gly149Glu Single submitter GATA1-related cytopenia
- p.Gly165Asp Single submitter Diamond-Blackfan anemia ⚠
- p.Gly177Arg Single submitter GATA1-related cytopenia ⚠
- p.Gly192Arg Single submitter Inborn genetic diseases ⚠
- p.Gly208Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Gly221Ser Single submitter ⚠
- p.Gly229Asp Single submitter ⚠
- p.Gly318Val Single submitter Inborn genetic diseases ⚠
- p.Gly339Arg Single submitter GATA1-related cytopenia
- p.Gly340Asp Single submitter Diamond-Blackfan anemia ⚠
- p.Gly340fs Single submitter
- p.Gly342Asp Single submitter GATA1-related cytopenia ⚠
- p.Gly342Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Gly347Glu Single submitter GATA1-related cytopenia ⚠
- p.Gly356Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Gly356Val Single submitter GATA1-related cytopenia ⚠
- p.Gly359fs Single submitter
- p.Gly366Ser Single submitter GATA1-related cytopenia ⚠
- p.Gly366Val Single submitter Diamond-Blackfan anemia ⚠
- p.Gly368Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Gly374Glu Single submitter GATA1-related cytopenia ⚠
- p.Gly392Asp Single submitter Diamond-Blackfan anemia ⚠
- p.Gly397= Single submitter GATA1-related cytopenia
- p.Gly5Asp Single submitter GATA1-related cytopenia ⚠
- p.Gly7Arg Single submitter GATA1-related cytopenia
- p.Gly86Arg Single submitter GATA1-related cytopenia ⚠
- p.Gly89Arg Single submitter GATA1-related cytopenia ⚠
- p.His222Arg Single submitter X-linked dyserythropoetic anemia with abnormal platelets and neutropenia ⚠
- p.His378Tyr Single submitter GATA1-related disorder
- p.His71Tyr Single submitter Diamond-Blackfan anemia ⚠
- p.Ile249Thr Single submitter GATA1-related cytopenia ⚠
- p.Leu103Pro Single submitter GATA1-related cytopenia ⚠
- p.Leu124Met Single submitter GATA1-related cytopenia ⚠
- p.Leu156Phe Single submitter GATA1-related cytopenia ⚠
- p.Leu194Val Single submitter Diamond-Blackfan anemia ⚠
- p.Leu224Ile Single submitter GATA1-related cytopenia ⚠
- p.Leu23Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Leu295Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Leu353Pro Single submitter ⚠
- p.Leu379Val Single submitter Diamond-Blackfan anemia ⚠
- p.Leu387Pro Single submitter GATA1-related cytopenia ⚠
- p.Leu411Pro Single submitter GATA1-related cytopenia ⚠
- p.Leu41Trp Single submitter Diamond-Blackfan anemia ⚠
- p.Leu81Pro Single submitter GATA1-related cytopenia
- p.Lys100Asn Single submitter GATA1-related cytopenia
- p.Lys246Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Lys246Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Met297Leu Single submitter GATA1-related cytopenia ⚠
- p.Met335Leu Single submitter thrombocytopenia, X-linked, with or without dyserythropoietic anemia ⚠
- p.Met380Ile Single submitter ⚠
- p.Met84Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Phe173Cys Single submitter GATA1-related cytopenia
- p.Phe173del Single submitter GATA1-related cytopenia
- p.Pro111Ser Single submitter GATA1-related cytopenia ⚠
- p.Pro117Leu Single submitter Inborn genetic diseases ⚠
- p.Pro143Leu Single submitter GATA1-related cytopenia ⚠
- p.Pro14His Single submitter GATA1-related cytopenia ⚠
- p.Pro14Leu Single submitter GATA1-related cytopenia ⚠
- p.Pro21Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Pro244Leu Single submitter GATA1-related cytopenia ⚠
- p.Pro330Ser Single submitter GATA1-related cytopenia ⚠
- p.Pro369Thr Single submitter GATA1-related cytopenia
- p.Pro390Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Pro400Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Pro401_Thr406del Single submitter Diamond-Blackfan anemia
- p.Pro401Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Pro410Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Pro50Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Pro50Leu Single submitter GATA1-related cytopenia ⚠
- p.Pro73Arg Single submitter GATA1-related cytopenia ⚠
- p.Pro73Leu Single submitter Inborn genetic diseases ⚠
- p.Ser107Leu Single submitter GATA1-related cytopenia ⚠
- p.Ser116Cys Single submitter Diamond-Blackfan anemia ⚠
- p.Ser155Pro Single submitter ⚠
- p.Ser170Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Ser170Asn Single submitter GATA1-related cytopenia ⚠
- p.Ser174Pro Single submitter ⚠
- p.Ser26Cys Single submitter GATA1-related cytopenia ⚠
- p.Ser274Asn Single submitter GATA1-related cytopenia ⚠
- p.Ser274Ile Single submitter Diamond-Blackfan anemia ⚠
- p.Ser310Pro Single submitter GATA1-related cytopenia ⚠
- p.Ser310Thr Single submitter ⚠
- p.Ser341Thr Single submitter GATA1-related cytopenia ⚠
- p.Ser36Phe Single submitter Diamond-Blackfan anemia ⚠
- p.Ser373Pro Single submitter Inborn genetic diseases ⚠
- p.Ser393Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Ser46Phe Single submitter GATA1-related cytopenia ⚠
- p.Ser51Asn Single submitter Diamond-Blackfan anemia ⚠
- p.Thr108Ser Single submitter GATA1-related cytopenia ⚠
- p.Thr112Ile Single submitter ⚠
- p.Thr135Ile Single submitter Inborn genetic diseases
- p.Thr266Met Single submitter Diamond-Blackfan anemia ⚠
- p.Thr27Ile Single submitter GATA1-related cytopenia ⚠
- p.Thr324Ile Single submitter GATA1-related cytopenia ⚠
- p.Thr402fs Single submitter GATA1-related cytopenia
- p.Thr406Ile Single submitter X-linked dyserythropoetic anemia with abnormal platelets and neutropenia ⚠
- p.Thr48Asn Single submitter Diamond-Blackfan anemia ⚠
- p.Tyr185His Single submitter ⚠
- p.Val158Ala Single submitter Inborn genetic diseases ⚠
- p.Val278Met Single submitter Diamond-Blackfan anemia ⚠
- p.Val370Met Single submitter GATA1-related cytopenia ⚠
- p.Val77Gly Single submitter Diamond-Blackfan anemia ⚠
- p.Pro390Thr No assertion criteria GATA1-related disorder ⚠