CEBPA — 1096 ClinVar variants

All ClinVar germline CEBPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 650 flagged for review →

37 Pathogenic · 1 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 111 Conflicting · 4 Benign · 3 Benign/Likely benign · 258 Likely benign · 662 Uncertain significance

Full CEBPA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 650

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 vs ClinVar 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CEBPA p.Asp105Val Pathogenic No assertion criteria
acute myeloid leukemia
CEBPA p.Leu315Met Likely pathogenic No assertion criteria
acute myeloid leukemia
CEBPA p.Ser319Ile Likely pathogenic No assertion criteria
acute myeloid leukemia
CEBPA p.Ser348Thr Likely pathogenic No assertion criteria
acute myeloid leukemia

Predictors agree, ClinVar conflicts 37

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CEBPA p.Ala111Ser Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Ala259Gly Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Arg86Gln Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Asp63Asn Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gln20His Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gln311Pro Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gln41His Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Glu144Gly Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Glu57Asp Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gly122Arg Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Gly223Ser Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gly242Ser Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gly245Ser Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gly268Ser Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Gly340Ser Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gly355Ser Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Gly36Asp Conflicting Single submitter
Inborn genetic diseases
CEBPA p.His84Gln Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Leu178Phe Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Leu178Val Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Lys276Arg Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Lys352Arg Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Met218Val Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Pro127Ala Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Pro14Leu Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Pro239Ala Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Pro34Ser Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Pro39Ala Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Pro51Leu Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Ser190Leu Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Ser251Gly Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Ser277Leu Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Thr217Ala Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Thr337Met Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Tyr131Phe Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Tyr181His Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Val95Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 251

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 251

CEBPA p.Ala258Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala271Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala271Ser Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ala274Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala303Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala358Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala4Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Arg142Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Arg149His Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Arg156Gln Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg165Gly Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg264His Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg264Pro Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg288Pro Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg291His Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Arg291Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Arg297Leu Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg323Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Arg325Cys Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg327Trp Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg343Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asp107Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asp262Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asp279Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asp301Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asp322Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asp69His Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Cys357Trp Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gln182Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gln182Leu Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gln20Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gln88Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CEBPA p.Glu329Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Glu334Gln Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Glu334Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Glu76Asp Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gly122Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CEBPA p.Gly126Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly126Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly245Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly267Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly270Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly272Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly32Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly355Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly54Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.His125Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.His125Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.His18Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CEBPA p.His195Pro Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Leu146Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Leu173Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Leu173Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Leu345Pro Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Leu52Pro Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Lys171Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Lys298Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Lys298Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Met120Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Met354Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Met354Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro109Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro109Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro112Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro115Ser Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro11Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro121Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro13Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro14Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro197Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro237Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro239Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro23Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro23Gln Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro261Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro346Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro51Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro97Leu Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro97Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ser190Pro Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ser27Thr Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ser282Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Thr60Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Thr98Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Thr98Met Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Tyr138Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Tyr147His Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Val119Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Val150Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Val308Met Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Val328Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Val328Met Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Val95Gly Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ala113Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
CEBPA p.Ala135Pro Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala136Gly Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala152Glu Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala176Gly Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala176Ser Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala203Thr Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala211Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala238Gly Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala25Pro Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala25Ser Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala265Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala271Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala29Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala30Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala358Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala66Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala71Ser Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala71Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala72Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala9Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg264Gly Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Arg288Trp Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg289Leu Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg291Leu Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Arg297Ser Uncertain significance Single submitter
CEBPA p.Arg306Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg325Gly Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Arg325Leu Uncertain significance Single submitter
CEBPA p.Arg325Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg333Cys Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg333Pro Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Arg339Trp Uncertain significance Single submitter
CEBPA p.Arg35Gln Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg35Pro Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Arg86Leu Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Asn283His Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Asn292His Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Asn292Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Asn307Tyr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Asn356His Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Asp105Ala Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Asp107Gly Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Asp262Asn Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Asp279Tyr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Asp320Ala Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Asp322Val Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Asp63His Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Cys133Tyr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Gln182His Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Gln182Lys Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Gln182Pro Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Gln221Leu Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Gln311Leu Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Gln330Pro Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Gln87Lys Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Glu144Asp Uncertain significance Single submitter
acute myeloid leukemia

Predictors split 358

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 358

CEBPA p.Ala113Ser Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ala118Val Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ala124Val Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ala154Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala176Val Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ala199Thr Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ala238Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala240Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala243Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala244Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala252Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala25Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala265Thr Uncertain significance Multiple submitters
CEBPA p.Ala37Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala40Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala48Thr Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ala79Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala93Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala93Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Arg149Cys Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg165His Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg264Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Arg323Cys Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Arg86Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asn281Asp Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Asn283Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asp322Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Asp75Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gln162Lys Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gln305Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gln305Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Glu148Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Glu163Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Glu57Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Glu76Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly101Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly103Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gly123Glu Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gly123Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly132Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly132Asp Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gly132Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly132Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly151Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly177Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly268Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly268Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Gly272Asp Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gly54Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Gly54Cys Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.His191Leu Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.His200Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.His205Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.His212Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.His212Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.His260Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.His58Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ile294Met Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ile62Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Met15Thr Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Met218Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Phe106Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Phe208Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Phe208Val Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Phe73Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Phe73Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Phe82Leu Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro11Gln Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro128Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro128Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro129His Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro153Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro183Thr Likely benign Multiple submitters
Inborn genetic diseases
CEBPA p.Pro184Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro184Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro185Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro186Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro187Gln Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro192Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro192Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro194Arg Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro194Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro225Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro22Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro233Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro233Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro237Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro23Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro23Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CEBPA p.Pro39Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro49Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro49Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Pro51Ser Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Pro70Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ser190Trp Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ser21Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ser251Cys Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Ser251Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Val119Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CEBPA p.Val159Met Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Val287Ala Uncertain significance Multiple submitters
acute myeloid leukemia
CEBPA p.Val351Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEBPA p.Ala111Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala113Val Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala118Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala124Glu Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala135Val Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala136Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala136Thr Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Ala136Val Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala152Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala170Ser Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala170Thr Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Ala199Val Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala202Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala211Pro Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala211Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala238Glu Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala240Val Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Ala259Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala259Val Conflicting Single submitter
acute myeloid leukemia
CEBPA p.Ala265Glu Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala265Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala271Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala274Asp Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala353Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala37Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala40Ser Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Ala40Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala44Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala47Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala47Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala48Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala66Thr Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala71Val Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala79Asp Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala91Pro Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Ala93Gly Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Ala93Thr Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Arg165Leu Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Arg165Ser Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg323His Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Arg343His Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Arg35Trp Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Asn307Thr Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Asn356Tyr Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Asp140His Uncertain significance Single submitter
Inborn genetic diseases
CEBPA p.Asp168Asn Uncertain significance Single submitter
acute myeloid leukemia
CEBPA p.Asp168Val Conflicting Single submitter
Inborn genetic diseases
CEBPA p.Asp279Asn Uncertain significance Single submitter
Inborn genetic diseases

All CEBPA variants

Pathogenic 37

p.Ala111fs Multiple submitters acute myeloid leukemia
p.Glu59Ter Multiple submitters acute myeloid leukemia
p.Arg12_Pro23delinsSerTer Single submitter
p.Asp107fs Single submitter acute myeloid leukemia
p.Asp63fs Single submitter acute myeloid leukemia
p.Asp69fs Single submitter acute myeloid leukemia
p.Cys56Ter Single submitter acute myeloid leukemia
p.Gln311_Gln312insPhe Single submitter
p.Gln41fs Single submitter acute myeloid leukemia
p.Gln88fs Single submitter
p.Glu148Ter Single submitter acute myeloid leukemia
p.Glu347delinsSerSerAlaThrTrpArgArgSerArgArgCysTrpSerTer Single submitter
p.Glu59fs Single submitter acute myeloid leukemia
p.Gly117fs Single submitter acute myeloid leukemia
p.Gly123Ter Single submitter
p.His24fs Single submitter acute myeloid leukemia
p.Ile62fs Single submitter acute myeloid leukemia
p.Leu146fs Single submitter
p.Lys92fs Single submitter acute myeloid leukemia
p.Pro42fs Single submitter acute myeloid leukemia
p.Pro46fs Single submitter acute myeloid leukemia
p.Pro49fs Single submitter acute myeloid leukemia
p.Pro70fs Single submitter acute myeloid leukemia
p.Ser21fs Single submitter acute myeloid leukemia
p.Ser61fs Single submitter acute myeloid leukemia
p.Ser65fs Single submitter acute myeloid leukemia
p.Ser85fs Single submitter acute myeloid leukemia
p.Thr98fs Single submitter acute myeloid leukemia
p.Tyr108Ter Single submitter acute myeloid leukemia
p.Ala72fs No assertion criteria acute myeloid leukemia
p.Asp105Val No assertion criteria acute myeloid leukemia ⚠
p.Gln312_Gln330dup No assertion criteria acute myeloid leukemia
p.Glu309_Leu317dup No assertion criteria acute myeloid leukemia
p.Glu347Lys No assertion criteria acute myeloid leukemia ⚠
p.Glu50Ter No assertion criteria acute myeloid leukemia
p.Pro23fs No assertion criteria acute myeloid leukemia
p.Pro39fs No assertion criteria acute myeloid leukemia

Pathogenic/Likely pathogenic 1

p.Gln83fs Multiple submitters acute myeloid leukemia

Likely pathogenic 20

p.Ala66_Tyr67insTer Single submitter
p.Arg142fs Single submitter acute myeloid leukemia
p.Arg286Gly Single submitter
p.Arg297Pro Single submitter acute myeloid leukemia
p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp Single submitter acute myeloid leukemia
p.Gln312_Lys313insGln Single submitter acute myeloid leukemia
p.Glu309_Gln311delinsVal Single submitter acute myeloid leukemia
p.Glu316delinsGlyLys Single submitter acute myeloid leukemia
p.Gly114fs Single submitter
p.Gly250fs Single submitter
p.His219fs Single submitter
p.Leu315_Glu316insThrGlnGlnLysValLeu Single submitter acute myeloid leukemia
p.Lys313delinsAsnLeu Single submitter
p.Pro112del Single submitter acute myeloid leukemia
p.Pro115fs Single submitter hereditary neoplastic syndrome
p.Val119fs Single submitter hereditary neoplastic syndrome
p.Gln312= No assertion criteria acute myeloid leukemia
p.Leu315Met No assertion criteria acute myeloid leukemia ⚠
p.Ser319Ile No assertion criteria acute myeloid leukemia ⚠
p.Ser348Thr No assertion criteria acute myeloid leukemia ⚠

Conflicting classifications of pathogenicity 111

c.-36C>T Single submitter
p.Ala111Ser Single submitter Inborn genetic diseases ⚠
p.Ala134= Single submitter Inborn genetic diseases
p.Ala136Thr Single submitter Inborn genetic diseases ⚠
p.Ala170Thr Single submitter acute myeloid leukemia ⚠
p.Ala240Val Single submitter acute myeloid leukemia ⚠
p.Ala244= Single submitter Inborn genetic diseases
p.Ala259Gly Single submitter Inborn genetic diseases ⚠
p.Ala259Val Single submitter acute myeloid leukemia ⚠
p.Ala9= Single submitter acute myeloid leukemia
p.Ala93Gly Single submitter Inborn genetic diseases ⚠
p.Ala93Thr Single submitter Inborn genetic diseases ⚠
p.Arg86= Single submitter acute myeloid leukemia
p.Arg86Gln Single submitter acute myeloid leukemia ⚠
p.Asn356Tyr Single submitter Inborn genetic diseases ⚠
p.Asp168Val Single submitter Inborn genetic diseases ⚠
p.Asp63Asn Single submitter Inborn genetic diseases ⚠
p.Gln20His Single submitter Inborn genetic diseases ⚠
p.Gln305Glu Single submitter Inborn genetic diseases ⚠
p.Gln311Pro Single submitter Inborn genetic diseases ⚠
p.Gln311Ter Single submitter acute myeloid leukemia
p.Gln41His Single submitter Inborn genetic diseases ⚠
p.Gln87His Single submitter Inborn genetic diseases ⚠
p.Glu144Gly Single submitter acute myeloid leukemia ⚠
p.Glu166Lys Single submitter acute myeloid leukemia ⚠
p.Glu57Asp Single submitter Inborn genetic diseases ⚠
p.Gly102_Gly104dup Single submitter Inborn genetic diseases
p.Gly102Ser Single submitter Inborn genetic diseases ⚠
p.Gly103_Gly104dup Single submitter Inborn genetic diseases
p.Gly104del Single submitter Inborn genetic diseases
p.Gly104dup Single submitter Inborn genetic diseases
p.Gly104Ser Single submitter Inborn genetic diseases ⚠
p.Gly116Ser Single submitter acute myeloid leukemia ⚠
p.Gly122Arg Single submitter acute myeloid leukemia ⚠
p.Gly122Glu Single submitter Inborn genetic diseases ⚠
p.Gly130Ser Single submitter Inborn genetic diseases ⚠
p.Gly132= Single submitter acute myeloid leukemia
p.Gly141= Single submitter acute myeloid leukemia
p.Gly141Arg Single submitter Inborn genetic diseases ⚠
p.Gly141Cys Single submitter Inborn genetic diseases ⚠
p.Gly151Arg Single submitter Inborn genetic diseases ⚠
p.Gly177Arg Single submitter acute myeloid leukemia ⚠
p.Gly223Ala Single submitter acute myeloid leukemia ⚠
p.Gly223Ser Single submitter Inborn genetic diseases ⚠
p.Gly242Arg Single submitter Inborn genetic diseases ⚠
p.Gly242Ser Single submitter Inborn genetic diseases ⚠
p.Gly245Arg Single submitter acute myeloid leukemia ⚠
p.Gly245Ser Single submitter Inborn genetic diseases ⚠
p.Gly267= Single submitter acute myeloid leukemia
p.Gly268Ser Single submitter acute myeloid leukemia ⚠
p.Gly272= Single submitter Inborn genetic diseases
p.Gly340Ser Single submitter Inborn genetic diseases ⚠
p.Gly355Ser Single submitter Inborn genetic diseases ⚠
p.Gly36Asp Single submitter Inborn genetic diseases ⚠
p.His193= Single submitter Inborn genetic diseases
p.His195Tyr Single submitter Inborn genetic diseases ⚠
p.His219Asn Single submitter acute myeloid leukemia ⚠
p.His260Gln Single submitter Inborn genetic diseases ⚠
p.His84Gln Single submitter Inborn genetic diseases ⚠
p.Ile341Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu178Phe Single submitter Inborn genetic diseases ⚠
p.Leu178Val Single submitter Inborn genetic diseases ⚠
p.Lys276Arg Single submitter Inborn genetic diseases ⚠
p.Lys302= Single submitter Inborn genetic diseases
p.Lys352Arg Single submitter Inborn genetic diseases ⚠
p.Met218Val Single submitter Inborn genetic diseases ⚠
p.Pro121Thr Single submitter Inborn genetic diseases ⚠
p.Pro127Ala Single submitter acute myeloid leukemia ⚠
p.Pro127Ser Single submitter acute myeloid leukemia ⚠
p.Pro128Ser Single submitter acute myeloid leukemia ⚠
p.Pro129Ser Single submitter Inborn genetic diseases ⚠
p.Pro14Leu Single submitter Inborn genetic diseases ⚠
p.Pro153Ser Single submitter Inborn genetic diseases ⚠
p.Pro183Ser Single submitter Inborn genetic diseases ⚠
p.Pro187_Pro189del Single submitter Inborn genetic diseases
p.Pro188_Pro189del Single submitter Inborn genetic diseases
p.Pro188Ser Single submitter Inborn genetic diseases ⚠
p.Pro189del Single submitter Inborn genetic diseases
p.Pro189dup Single submitter Inborn genetic diseases
p.Pro194Ala Single submitter Inborn genetic diseases ⚠
p.Pro198Leu Single submitter Inborn genetic diseases ⚠
p.Pro222Ser Single submitter Inborn genetic diseases ⚠
p.Pro22Ser Single submitter acute myeloid leukemia ⚠
p.Pro237Thr Single submitter acute myeloid leukemia ⚠
p.Pro239Ala Single submitter Inborn genetic diseases ⚠
p.Pro247Ser Single submitter acute myeloid leukemia ⚠
p.Pro26Arg Single submitter Inborn genetic diseases ⚠
p.Pro346= Single submitter Inborn genetic diseases
p.Pro34Ser Single submitter Inborn genetic diseases ⚠
p.Pro34Thr Single submitter Inborn genetic diseases ⚠
p.Pro39Ala Single submitter Inborn genetic diseases ⚠
p.Pro39Leu Single submitter Inborn genetic diseases ⚠
p.Pro42Ser Single submitter Inborn genetic diseases ⚠
p.Pro51Leu Single submitter Inborn genetic diseases ⚠
p.Ser17Arg Single submitter Inborn genetic diseases ⚠
p.Ser190Leu Single submitter acute myeloid leukemia ⚠
p.Ser21Arg Single submitter acute myeloid leukemia ⚠
p.Ser251Gly Single submitter acute myeloid leukemia ⚠
p.Ser277Leu Single submitter Inborn genetic diseases ⚠
p.Thr216Ala Single submitter Inborn genetic diseases ⚠
p.Thr217Ala Single submitter Inborn genetic diseases ⚠
p.Thr310= Single submitter Inborn genetic diseases
p.Thr337Met Single submitter acute myeloid leukemia ⚠
p.Thr337Ser Single submitter Inborn genetic diseases ⚠
p.Thr60Met Single submitter Inborn genetic diseases ⚠
p.Tyr108= Single submitter Inborn genetic diseases
p.Tyr131Phe Single submitter Inborn genetic diseases ⚠
p.Tyr181His Single submitter Inborn genetic diseases ⚠
p.Val287_Arg288= Single submitter Inborn genetic diseases
p.Val314= Single submitter acute myeloid leukemia
p.Val95Met Single submitter Inborn genetic diseases ⚠

Benign 4

c.-110C>T Multiple submitters
p.Ala271Pro Multiple submitters Inborn genetic diseases
p.His191= Multiple submitters Inborn genetic diseases
p.Thr230= Multiple submitters Inborn genetic diseases

Benign/Likely benign 3

p.Glu347= Multiple submitters Inborn genetic diseases
p.Pro187= Multiple submitters acute myeloid leukemia
p.Pro247= Multiple submitters Inborn genetic diseases

Likely benign 258

c.*302C>T Multiple submitters
p.Ala124= Multiple submitters Inborn genetic diseases
p.Ala136= Multiple submitters Inborn genetic diseases
p.Ala170= Multiple submitters Inborn genetic diseases
p.Ala174= Multiple submitters Inborn genetic diseases
p.Ala176= Multiple submitters acute myeloid leukemia
p.Ala199= Multiple submitters acute myeloid leukemia
p.Ala203= Multiple submitters Inborn genetic diseases
p.Ala211= Multiple submitters acute myeloid leukemia
p.Ala240= Multiple submitters acute myeloid leukemia
p.Ala259= Multiple submitters Inborn genetic diseases
p.Ala274= Multiple submitters Inborn genetic diseases
p.Ala29= Multiple submitters acute myeloid leukemia
p.Ala30= Multiple submitters acute myeloid leukemia
p.Ala303= Multiple submitters acute myeloid leukemia
p.Ala358= Multiple submitters Inborn genetic diseases
p.Ala40= Multiple submitters Inborn genetic diseases
p.Ala93= Multiple submitters Inborn genetic diseases
p.Ala94= Multiple submitters acute myeloid leukemia
p.Arg12= Multiple submitters Inborn genetic diseases
p.Arg149= Multiple submitters Inborn genetic diseases
p.Arg156= Multiple submitters Inborn genetic diseases
p.Arg264= Multiple submitters acute myeloid leukemia
p.Arg286= Multiple submitters Inborn genetic diseases
p.Arg288= Multiple submitters Inborn genetic diseases
p.Arg300= Multiple submitters acute myeloid leukemia
p.Arg339= Multiple submitters Inborn genetic diseases
p.Arg35= Multiple submitters Inborn genetic diseases
p.Asn307= Multiple submitters acute myeloid leukemia
p.Asp168= Multiple submitters Inborn genetic diseases
p.Asp262= Multiple submitters acute myeloid leukemia
p.Asp279= Multiple submitters Inborn genetic diseases
p.Asp320= Multiple submitters Inborn genetic diseases
p.Asp322= Multiple submitters Inborn genetic diseases
p.Asp336= Multiple submitters Inborn genetic diseases
p.Cys133= Multiple submitters Inborn genetic diseases
p.Gln182= Multiple submitters acute myeloid leukemia
p.Gln215= Multiple submitters Inborn genetic diseases
p.Glu167= Multiple submitters Inborn genetic diseases
p.Glu169= Multiple submitters Inborn genetic diseases
p.Glu309= Multiple submitters Inborn genetic diseases
p.Gly102= Multiple submitters Inborn genetic diseases
p.Gly116= Multiple submitters Inborn genetic diseases
p.Gly122= Multiple submitters acute myeloid leukemia
p.Gly126= Multiple submitters acute myeloid leukemia
p.Gly151= Multiple submitters Inborn genetic diseases
p.Gly177= Multiple submitters Inborn genetic diseases
p.Gly223= Multiple submitters acute myeloid leukemia
p.Gly250= Multiple submitters Inborn genetic diseases
p.Gly268= Multiple submitters Inborn genetic diseases
p.Gly36= Multiple submitters acute myeloid leukemia
p.Gly96= Multiple submitters Inborn genetic diseases
p.Gly99= Multiple submitters Inborn genetic diseases
p.His125= Multiple submitters acute myeloid leukemia
p.His195= Multiple submitters Inborn genetic diseases
p.His212= Multiple submitters Inborn genetic diseases
p.His58= Multiple submitters Inborn genetic diseases
p.His84= Multiple submitters acute myeloid leukemia
p.Leu139= Multiple submitters acute myeloid leukemia
p.Leu143= Multiple submitters Inborn genetic diseases
p.Leu175= Multiple submitters acute myeloid leukemia
p.Leu178= Multiple submitters acute myeloid leukemia
p.Leu19= Multiple submitters acute myeloid leukemia
p.Leu201= Multiple submitters acute myeloid leukemia
p.Leu220= Multiple submitters Inborn genetic diseases
p.Leu246= Multiple submitters acute myeloid leukemia
p.Leu256= Multiple submitters Inborn genetic diseases
p.Leu263= Multiple submitters Inborn genetic diseases
p.Leu315= Multiple submitters Inborn genetic diseases
p.Leu350= Multiple submitters Inborn genetic diseases
p.Leu52= Multiple submitters acute myeloid leukemia
p.Lys254= Multiple submitters Inborn genetic diseases
p.Lys273= Multiple submitters Inborn genetic diseases
p.Lys313= Multiple submitters Inborn genetic diseases
p.Lys90= Multiple submitters Inborn genetic diseases
p.Phe106= Multiple submitters Inborn genetic diseases
p.Phe6= Multiple submitters acute myeloid leukemia
p.Phe77= Multiple submitters Inborn genetic diseases
p.Pro11= Multiple submitters acute myeloid leukemia
p.Pro112= Multiple submitters Inborn genetic diseases
p.Pro115= Multiple submitters Inborn genetic diseases
p.Pro121= Multiple submitters Inborn genetic diseases
p.Pro128= Multiple submitters Inborn genetic diseases
p.Pro13= Multiple submitters Inborn genetic diseases
p.Pro14= Multiple submitters Inborn genetic diseases
p.Pro153= Multiple submitters acute myeloid leukemia
p.Pro183Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro186= Multiple submitters Inborn genetic diseases
p.Pro192= Multiple submitters Inborn genetic diseases
p.Pro194= Multiple submitters Inborn genetic diseases
p.Pro196= Multiple submitters acute myeloid leukemia
p.Pro204= Multiple submitters Inborn genetic diseases
p.Pro22= Multiple submitters Inborn genetic diseases
p.Pro225= Multiple submitters acute myeloid leukemia
p.Pro235= Multiple submitters acute myeloid leukemia
p.Pro249= Multiple submitters acute myeloid leukemia
p.Pro261= Multiple submitters acute myeloid leukemia
p.Pro34= Multiple submitters Inborn genetic diseases
p.Pro43= Multiple submitters Inborn genetic diseases
p.Pro49= Multiple submitters Inborn genetic diseases
p.Pro51= Multiple submitters Inborn genetic diseases
p.Ser21= Multiple submitters Inborn genetic diseases
p.Ser266= Multiple submitters Inborn genetic diseases
p.Ser27= Multiple submitters acute myeloid leukemia
p.Ser299= Multiple submitters Inborn genetic diseases
p.Ser349= Multiple submitters Inborn genetic diseases
p.Ser61= Multiple submitters Inborn genetic diseases
p.Thr318= Multiple submitters Inborn genetic diseases
p.Thr60= Multiple submitters Inborn genetic diseases
p.Thr98= Multiple submitters acute myeloid leukemia
p.Tyr138= Multiple submitters acute myeloid leukemia
p.Tyr147= Multiple submitters acute myeloid leukemia
p.Val119= Multiple submitters Inborn genetic diseases
p.Val150= Multiple submitters acute myeloid leukemia
p.Val159= Multiple submitters acute myeloid leukemia
p.Val232= Multiple submitters Inborn genetic diseases
p.Val287= Multiple submitters Inborn genetic diseases
p.Val296= Multiple submitters Inborn genetic diseases
p.Val95= Multiple submitters Inborn genetic diseases
p.Ala111= Single submitter acute myeloid leukemia
p.Ala113= Single submitter acute myeloid leukemia
p.Ala118= Single submitter acute myeloid leukemia
p.Ala135= Single submitter acute myeloid leukemia
p.Ala154= Single submitter acute myeloid leukemia
p.Ala238= Single submitter acute myeloid leukemia
p.Ala243= Single submitter acute myeloid leukemia
p.Ala25= Single submitter acute myeloid leukemia
p.Ala252= Single submitter acute myeloid leukemia
p.Ala258= Single submitter acute myeloid leukemia
p.Ala271= Single submitter Inborn genetic diseases
p.Ala295= Single submitter acute myeloid leukemia
p.Ala29Gly Single submitter Inborn genetic diseases
p.Ala353= Single submitter acute myeloid leukemia
p.Ala37= Single submitter acute myeloid leukemia
p.Ala44= Single submitter acute myeloid leukemia
p.Ala47= Single submitter acute myeloid leukemia
p.Ala48= Single submitter acute myeloid leukemia
p.Ala4Val Single submitter Inborn genetic diseases
p.Ala71= Single submitter acute myeloid leukemia
p.Ala72= Single submitter acute myeloid leukemia
p.Ala79= Single submitter acute myeloid leukemia
p.Arg289= Single submitter Inborn genetic diseases
p.Arg333= Single submitter acute myeloid leukemia
p.Arg343= Single submitter Inborn genetic diseases
p.Arg35Gly Single submitter Inborn genetic diseases
p.Asn281= Single submitter Inborn genetic diseases
p.Asn321= Single submitter acute myeloid leukemia
p.Asn356= Single submitter Inborn genetic diseases
p.Asn74= Single submitter acute myeloid leukemia
p.Asp105= Single submitter acute myeloid leukemia
p.Asp107= Single submitter Inborn genetic diseases
p.Asp140= Single submitter acute myeloid leukemia
p.Asp63= Single submitter Inborn genetic diseases
p.Asp80= Single submitter acute myeloid leukemia
p.Cys213= Single submitter Inborn genetic diseases
p.Cys357= Single submitter acute myeloid leukemia
p.Gln207= Single submitter acute myeloid leukemia
p.Gln311= Single submitter Inborn genetic diseases
p.Gln330= Single submitter acute myeloid leukemia
p.Gln344= Single submitter acute myeloid leukemia
p.Gln83= Single submitter Inborn genetic diseases
p.Gln87= Single submitter acute myeloid leukemia
p.Gln87Arg Single submitter Inborn genetic diseases
p.Glu10= Single submitter Inborn genetic diseases
p.Glu148= Single submitter Inborn genetic diseases
p.Glu148Gln Single submitter Inborn genetic diseases
p.Glu284= Single submitter acute myeloid leukemia
p.Glu316= Single submitter acute myeloid leukemia
p.Glu329= Single submitter acute myeloid leukemia
p.Glu57= Single submitter Inborn genetic diseases
p.Glu59= Single submitter acute myeloid leukemia
p.Gly103= Single submitter Inborn genetic diseases
p.Gly104= Single submitter acute myeloid leukemia
p.Gly110= Single submitter acute myeloid leukemia
p.Gly110Val Single submitter Inborn genetic diseases ⚠
p.Gly114= Single submitter Inborn genetic diseases
p.Gly137= Single submitter acute myeloid leukemia
p.Gly214= Single submitter Inborn genetic diseases
p.Gly214Val Single submitter Inborn genetic diseases
p.Gly242= Single submitter Inborn genetic diseases
p.Gly255= Single submitter Inborn genetic diseases
p.Gly257= Single submitter Inborn genetic diseases
p.Gly340= Single submitter acute myeloid leukemia
p.Gly36Val Single submitter Inborn genetic diseases ⚠
p.Gly38= Single submitter acute myeloid leukemia
p.Gly53= Single submitter Inborn genetic diseases
p.Gly54= Single submitter acute myeloid leukemia
p.Gly96Ala Single submitter Inborn genetic diseases
p.His205= Single submitter Inborn genetic diseases
p.His219= Single submitter Inborn genetic diseases
p.His24= Single submitter Inborn genetic diseases
p.His260= Single submitter acute myeloid leukemia
p.His58Arg Single submitter Inborn genetic diseases ⚠
p.Ile210= Single submitter Inborn genetic diseases
p.Ile294= Single submitter acute myeloid leukemia
p.Ile55= Single submitter acute myeloid leukemia
p.Ile55Val Single submitter Inborn genetic diseases ⚠
p.Ile62= Single submitter acute myeloid leukemia
p.Leu146= Single submitter acute myeloid leukemia
p.Leu158= Single submitter Inborn genetic diseases
p.Leu206= Single submitter Inborn genetic diseases
p.Leu241= Single submitter acute myeloid leukemia
p.Leu253= Single submitter Inborn genetic diseases
p.Leu317= Single submitter acute myeloid leukemia
p.Leu324= Single submitter acute myeloid leukemia
p.Leu331= Single submitter Inborn genetic diseases
p.Leu78= Single submitter Inborn genetic diseases
p.Lys276= Single submitter Inborn genetic diseases
p.Lys298= Single submitter acute myeloid leukemia
p.Lys304= Single submitter acute myeloid leukemia
p.Lys326= Single submitter acute myeloid leukemia
p.Phe179= Single submitter Inborn genetic diseases
p.Phe82= Single submitter Inborn genetic diseases
p.Pro109= Single submitter acute myeloid leukemia
p.Pro127= Single submitter Inborn genetic diseases
p.Pro164= Single submitter Inborn genetic diseases
p.Pro180= Single submitter Inborn genetic diseases
p.Pro183= Single submitter Inborn genetic diseases
p.Pro185= Single submitter acute myeloid leukemia
p.Pro188= Single submitter Inborn genetic diseases
p.Pro188Arg Single submitter Inborn genetic diseases
p.Pro189= Single submitter acute myeloid leukemia
p.Pro197= Single submitter acute myeloid leukemia
p.Pro198= Single submitter acute myeloid leukemia
p.Pro222= Single submitter acute myeloid leukemia
p.Pro227= Single submitter Inborn genetic diseases
p.Pro228= Single submitter acute myeloid leukemia
p.Pro23= Single submitter Inborn genetic diseases
p.Pro231= Single submitter acute myeloid leukemia
p.Pro233= Single submitter acute myeloid leukemia
p.Pro237= Single submitter acute myeloid leukemia
p.Pro239= Single submitter acute myeloid leukemia
p.Pro247Arg Single submitter Inborn genetic diseases ⚠
p.Pro247Leu Single submitter Inborn genetic diseases
p.Pro39Ser Single submitter Inborn genetic diseases ⚠
p.Pro42= Single submitter Inborn genetic diseases
p.Pro45Ser Single submitter Inborn genetic diseases ⚠
p.Pro46= Single submitter acute myeloid leukemia
p.Pro70= Single submitter acute myeloid leukemia
p.Ser190= Single submitter acute myeloid leukemia
p.Ser234= Single submitter Inborn genetic diseases
p.Ser251= Single submitter Inborn genetic diseases
p.Ser269= Single submitter Inborn genetic diseases
p.Ser269Gly Single submitter Inborn genetic diseases
p.Ser277= Single submitter acute myeloid leukemia
p.Ser28= Single submitter acute myeloid leukemia
p.Ser282= Single submitter acute myeloid leukemia
p.Ser3= Single submitter acute myeloid leukemia
p.Thr216= Single submitter acute myeloid leukemia
p.Thr226= Single submitter acute myeloid leukemia
p.Tyr181Cys Single submitter Inborn genetic diseases ⚠
p.Val278= Single submitter Inborn genetic diseases
p.Val308= Single submitter acute myeloid leukemia
p.Val95Ala Single submitter Inborn genetic diseases
c.-97G>T No assertion criteria CEBPA-related disorder
p.Gly123= No assertion criteria CEBPA-related disorder
p.Gly245= No assertion criteria CEBPA-related disorder
p.Pro129= No assertion criteria CEBPA-related disorder

Uncertain significance 662

Showing the top 300 by review status; the full set is in the sitemap.

c.-1C>A Multiple submitters Inborn genetic diseases
c.-4C>G Multiple submitters Inborn genetic diseases
p.191HP[1] Multiple submitters Inborn genetic diseases
p.191HP[2] Multiple submitters CEBPA-related disorder
p.191HP[5] Multiple submitters Inborn genetic diseases
p.237PA[3] Multiple submitters Inborn genetic diseases
p.Ala113Ser Multiple submitters acute myeloid leukemia ⚠
p.Ala118Val Multiple submitters acute myeloid leukemia ⚠
p.Ala124Val Multiple submitters acute myeloid leukemia ⚠
p.Ala154Val Multiple submitters Inborn genetic diseases ⚠
p.Ala176Val Multiple submitters acute myeloid leukemia ⚠
p.Ala199Leu Multiple submitters Inborn genetic diseases
p.Ala199Thr Multiple submitters acute myeloid leukemia ⚠
p.Ala238Val Multiple submitters Inborn genetic diseases ⚠
p.Ala240_Leu241dup Multiple submitters Inborn genetic diseases
p.Ala240Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala243Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala244Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala252Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala258Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala25Val Multiple submitters Inborn genetic diseases ⚠
p.Ala265Met Multiple submitters Inborn genetic diseases
p.Ala265Thr Multiple submitters ⚠
p.Ala271Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala271Ser Multiple submitters acute myeloid leukemia ⚠
p.Ala274Val Multiple submitters Inborn genetic diseases ⚠
p.Ala303Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala358Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala37Val Multiple submitters Inborn genetic diseases ⚠
p.Ala40Val Multiple submitters Inborn genetic diseases ⚠
p.Ala48Thr Multiple submitters acute myeloid leukemia ⚠
p.Ala4Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala79Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala93Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala93Lys Multiple submitters Inborn genetic diseases
p.Ala93Val Multiple submitters Inborn genetic diseases ⚠
p.Arg142Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg149Cys Multiple submitters acute myeloid leukemia ⚠
p.Arg149His Multiple submitters Inborn genetic diseases ⚠
p.Arg156Gln Multiple submitters acute myeloid leukemia ⚠
p.Arg165Gly Multiple submitters acute myeloid leukemia ⚠
p.Arg165His Multiple submitters acute myeloid leukemia ⚠
p.Arg264Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg264His Multiple submitters acute myeloid leukemia ⚠
p.Arg264Pro Multiple submitters acute myeloid leukemia ⚠
p.Arg288Pro Multiple submitters acute myeloid leukemia ⚠
p.Arg291His Multiple submitters Inborn genetic diseases ⚠
p.Arg291Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg297Leu Multiple submitters acute myeloid leukemia ⚠
p.Arg323Cys Multiple submitters acute myeloid leukemia ⚠
p.Arg323Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg325Cys Multiple submitters acute myeloid leukemia ⚠
p.Arg327Trp Multiple submitters acute myeloid leukemia ⚠
p.Arg343Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg86Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn281Asp Multiple submitters acute myeloid leukemia ⚠
p.Asn283Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp107Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp262Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp279Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp301Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp322Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp322Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp322Ile Multiple submitters Inborn genetic diseases
p.Asp69His Multiple submitters Inborn genetic diseases ⚠
p.Asp75Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys357Trp Multiple submitters acute myeloid leukemia ⚠
p.Cys56_Glu57delinsTrpLys Multiple submitters Inborn genetic diseases
p.Gln162Lys Multiple submitters acute myeloid leukemia ⚠
p.Gln182Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln182Leu Multiple submitters acute myeloid leukemia ⚠
p.Gln20Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln305Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln305Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln88Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu148Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu163Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu329Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu334Gln Multiple submitters acute myeloid leukemia ⚠
p.Glu334Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu57Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu76Asp Multiple submitters acute myeloid leukemia ⚠
p.Glu76Val Multiple submitters Inborn genetic diseases ⚠
p.Glu89del Multiple submitters Inborn genetic diseases
p.Gly101Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly102_Gly104del Multiple submitters acute myeloid leukemia
p.Gly103_Gly104del Multiple submitters Inborn genetic diseases
p.Gly103Arg Multiple submitters acute myeloid leukemia ⚠
p.Gly122Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly123Glu Multiple submitters acute myeloid leukemia ⚠
p.Gly123Val Multiple submitters Inborn genetic diseases ⚠
p.Gly126Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly126Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly132Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly132Asp Multiple submitters acute myeloid leukemia ⚠
p.Gly132Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly132Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly151_Arg156delinsAsp Multiple submitters Inborn genetic diseases
p.Gly151Trp Multiple submitters Inborn genetic diseases ⚠
p.Gly177Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly245Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly267Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly268Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly268Val Multiple submitters Inborn genetic diseases ⚠
p.Gly270Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly272Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly272Asp Multiple submitters acute myeloid leukemia ⚠
p.Gly32Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly355Val Multiple submitters Inborn genetic diseases ⚠
p.Gly54Arg Multiple submitters acute myeloid leukemia ⚠
p.Gly54Cys Multiple submitters acute myeloid leukemia ⚠
p.Gly54Ser Multiple submitters Inborn genetic diseases ⚠
p.His125Gln Multiple submitters Inborn genetic diseases ⚠
p.His125Tyr Multiple submitters Inborn genetic diseases ⚠
p.His18Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His191_Pro192insLeuHis Multiple submitters Inborn genetic diseases
p.His191Leu Multiple submitters acute myeloid leukemia ⚠
p.His195Pro Multiple submitters acute myeloid leukemia ⚠
p.His200Asp Multiple submitters Inborn genetic diseases ⚠
p.His205Arg Multiple submitters acute myeloid leukemia ⚠
p.His212Pro Multiple submitters Inborn genetic diseases ⚠
p.His212Tyr Multiple submitters Inborn genetic diseases ⚠
p.His260Tyr Multiple submitters Inborn genetic diseases ⚠
p.His58Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile294Met Multiple submitters Inborn genetic diseases ⚠
p.Ile62Val Multiple submitters Inborn genetic diseases ⚠
p.Leu146Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu173Arg Multiple submitters acute myeloid leukemia ⚠
p.Leu173Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu345Pro Multiple submitters acute myeloid leukemia ⚠
p.Leu52Pro Multiple submitters acute myeloid leukemia ⚠
p.Lys171Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys298Arg Multiple submitters acute myeloid leukemia ⚠
p.Lys298fs Multiple submitters Inborn genetic diseases
p.Lys298Gln Multiple submitters Inborn genetic diseases ⚠
p.Met120Val Multiple submitters Inborn genetic diseases ⚠
p.Met15Thr Multiple submitters acute myeloid leukemia ⚠
p.Met218Ile Multiple submitters Inborn genetic diseases ⚠
p.Met354Leu Multiple submitters Inborn genetic diseases ⚠
p.Met354Val Multiple submitters Inborn genetic diseases ⚠
p.Phe106Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe208Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe208Val Multiple submitters acute myeloid leukemia ⚠
p.Phe73Cys Multiple submitters Inborn genetic diseases ⚠
p.Phe73Val Multiple submitters Inborn genetic diseases ⚠
p.Phe82Leu Multiple submitters acute myeloid leukemia ⚠
p.Pro109Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro109Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro112Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro115Ser Multiple submitters acute myeloid leukemia ⚠
p.Pro11Arg Multiple submitters acute myeloid leukemia ⚠
p.Pro11Gln Multiple submitters acute myeloid leukemia ⚠
p.Pro121Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro128Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro128Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro129His Multiple submitters acute myeloid leukemia ⚠
p.Pro13Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro14Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro153Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro184Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro184Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro185Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro186Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro187_Pro189dup Multiple submitters acute myeloid leukemia
p.Pro187_Ser190delinsSerHisPro Multiple submitters acute myeloid leukemia
p.Pro187Gln Multiple submitters acute myeloid leukemia ⚠
p.Pro188_Pro189dup Multiple submitters Inborn genetic diseases
p.Pro192_His193insTyrPro Multiple submitters acute myeloid leukemia
p.Pro192Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro192Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro194Arg Multiple submitters acute myeloid leukemia ⚠
p.Pro194Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro197Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro198_Ala199insSerHisProHisProHisProProPro Multiple submitters acute myeloid leukemia
p.Pro225Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro22Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro233Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro233Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro237Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro237Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro239Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro23Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro23Gln Multiple submitters acute myeloid leukemia ⚠
p.Pro23Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro23Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro261Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro346Arg Multiple submitters acute myeloid leukemia ⚠
p.Pro39Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro45_Ile55delinsLeu Multiple submitters Inborn genetic diseases
p.Pro49Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro49Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro51Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro51Ser Multiple submitters acute myeloid leukemia ⚠
p.Pro70Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro97Leu Multiple submitters acute myeloid leukemia ⚠
p.Pro97Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser190_Pro198del Multiple submitters Inborn genetic diseases
p.Ser190Pro Multiple submitters acute myeloid leukemia ⚠
p.Ser190Trp Multiple submitters acute myeloid leukemia ⚠
p.Ser21Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser251Cys Multiple submitters acute myeloid leukemia ⚠
p.Ser251Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser27Thr Multiple submitters acute myeloid leukemia ⚠
p.Ser282Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr60Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr98Arg Multiple submitters acute myeloid leukemia ⚠
p.Thr98Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr138Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr147His Multiple submitters Inborn genetic diseases ⚠
p.Val119Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val119Leu Multiple submitters Inborn genetic diseases ⚠
p.Val150Phe Multiple submitters Inborn genetic diseases ⚠
p.Val159Met Multiple submitters acute myeloid leukemia ⚠
p.Val287Ala Multiple submitters acute myeloid leukemia ⚠
p.Val308Met Multiple submitters Inborn genetic diseases ⚠
p.Val328Gly Multiple submitters Inborn genetic diseases ⚠
p.Val328Met Multiple submitters Inborn genetic diseases ⚠
p.Val351Leu Multiple submitters Inborn genetic diseases ⚠
p.Val95Gly Multiple submitters acute myeloid leukemia ⚠
c.-1C>G Single submitter Inborn genetic diseases
c.-1C>T Single submitter Inborn genetic diseases
c.-1del Single submitter CEBPA-related disorder
c.-2C>T Single submitter Inborn genetic diseases
c.-39C>A Single submitter acute myeloid leukemia
c.-3C>G Single submitter Inborn genetic diseases
c.-3C>T Single submitter Inborn genetic diseases
c.-4C>T Single submitter Inborn genetic diseases
c.-5C>A Single submitter Inborn genetic diseases
c.-9_-6del Single submitter
c.-90C>T Single submitter CEBPA-related disorder
p.191HP[4] Single submitter acute myeloid leukemia
p.191HP[6] Single submitter acute myeloid leukemia
p.237PA[1] Single submitter Inborn genetic diseases
p.Ala111Thr Single submitter acute myeloid leukemia ⚠
p.Ala113Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala113Val Single submitter Inborn genetic diseases ⚠
p.Ala118Thr Single submitter acute myeloid leukemia ⚠
p.Ala124Glu Single submitter acute myeloid leukemia ⚠
p.Ala135Pro Single submitter acute myeloid leukemia ⚠
p.Ala135Val Single submitter Inborn genetic diseases ⚠
p.Ala136Gly Single submitter acute myeloid leukemia ⚠
p.Ala136Ser Single submitter acute myeloid leukemia ⚠
p.Ala136Val Single submitter Inborn genetic diseases ⚠
p.Ala152Glu Single submitter acute myeloid leukemia ⚠
p.Ala152Val Single submitter acute myeloid leukemia ⚠
p.Ala170Ser Single submitter Inborn genetic diseases ⚠
p.Ala176Gly Single submitter acute myeloid leukemia ⚠
p.Ala176Ser Single submitter Inborn genetic diseases ⚠
p.Ala199Val Single submitter Inborn genetic diseases ⚠
p.Ala202= Single submitter acute myeloid leukemia
p.Ala202Val Single submitter acute myeloid leukemia ⚠
p.Ala203Phe Single submitter acute myeloid leukemia
p.Ala203Thr Single submitter Inborn genetic diseases ⚠
p.Ala211Pro Single submitter acute myeloid leukemia ⚠
p.Ala211Ser Single submitter acute myeloid leukemia ⚠
p.Ala211Thr Single submitter acute myeloid leukemia ⚠
p.Ala238Glu Single submitter acute myeloid leukemia ⚠
p.Ala238Gly Single submitter acute myeloid leukemia ⚠
p.Ala259Thr Single submitter acute myeloid leukemia ⚠
p.Ala25Pro Single submitter acute myeloid leukemia ⚠
p.Ala25Ser Single submitter Inborn genetic diseases ⚠
p.Ala265Glu Single submitter Inborn genetic diseases ⚠
p.Ala265Ser Single submitter acute myeloid leukemia ⚠
p.Ala265Val Single submitter acute myeloid leukemia ⚠
p.Ala271Leu Single submitter acute myeloid leukemia
p.Ala271Thr Single submitter acute myeloid leukemia ⚠
p.Ala271Val Single submitter acute myeloid leukemia ⚠
p.Ala274Asp Single submitter Inborn genetic diseases ⚠
p.Ala29Ser Single submitter acute myeloid leukemia ⚠
p.Ala30Ser Single submitter acute myeloid leukemia ⚠
p.Ala353Thr Single submitter acute myeloid leukemia ⚠
p.Ala358Val Single submitter acute myeloid leukemia ⚠
p.Ala37Thr Single submitter acute myeloid leukemia ⚠
p.Ala40Ser Single submitter Inborn genetic diseases ⚠
p.Ala40Thr Single submitter acute myeloid leukemia ⚠
p.Ala44Val Single submitter acute myeloid leukemia ⚠
p.Ala47Ser Single submitter acute myeloid leukemia ⚠
p.Ala47Val Single submitter acute myeloid leukemia ⚠
p.Ala48Ser Single submitter acute myeloid leukemia ⚠
p.Ala66= Single submitter acute myeloid leukemia
p.Ala66Ser Single submitter acute myeloid leukemia ⚠
p.Ala66Thr Single submitter acute myeloid leukemia ⚠
p.Ala71Ser Single submitter Inborn genetic diseases ⚠
p.Ala71Thr Single submitter acute myeloid leukemia ⚠
p.Ala71Val Single submitter acute myeloid leukemia ⚠
p.Ala72Ser Single submitter acute myeloid leukemia ⚠
p.Ala79Asp Single submitter acute myeloid leukemia ⚠
p.Ala91Pro Single submitter acute myeloid leukemia ⚠
p.Ala9Val Single submitter acute myeloid leukemia ⚠
p.Arg165Leu Single submitter Inborn genetic diseases ⚠
p.Arg165Ser Single submitter acute myeloid leukemia ⚠
p.Arg264Gly Single submitter Inborn genetic diseases ⚠
p.Arg288Trp Single submitter acute myeloid leukemia ⚠
p.Arg289Leu Single submitter acute myeloid leukemia ⚠
p.Arg291Leu Single submitter Inborn genetic diseases ⚠
p.Arg297Ser Single submitter ⚠
p.Arg306= Single submitter acute myeloid leukemia
p.Arg306Ser Single submitter acute myeloid leukemia ⚠
p.Arg323His Single submitter Inborn genetic diseases ⚠
p.Arg325Gly Single submitter Inborn genetic diseases ⚠