CBFA2T3 — 142 ClinVar variants
All ClinVar germline CBFA2T3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
1 Benign · 9 Likely benign · 132 Uncertain significance
Full CBFA2T3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
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 lean, ClinVar uncertain 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBFA2T3 p.Ala141Val Uncertain significance Single submitter
- CBFA2T3 p.Ala272Thr Uncertain significance Single submitter
- CBFA2T3 p.Ala449Thr Uncertain significance Single submitter
- CBFA2T3 p.Ala451Thr Uncertain significance Single submitter
- CBFA2T3 p.Ala460Pro Uncertain significance Single submitter
- CBFA2T3 p.Ala460Thr Uncertain significance Single submitter
- CBFA2T3 p.Ala631Thr Uncertain significance Single submitter
- CBFA2T3 p.Ala67Gly Uncertain significance Single submitter
- CBFA2T3 p.Ala91Thr Uncertain significance Single submitter
- CBFA2T3 p.Arg103Gln Uncertain significance Single submitter
- CBFA2T3 p.Arg114His Uncertain significance Single submitter
- CBFA2T3 p.Arg358His Uncertain significance Single submitter
- CBFA2T3 p.Arg366Gln Uncertain significance Single submitter
- CBFA2T3 p.Arg414Trp Uncertain significance Single submitter
- CBFA2T3 p.Arg454Gln Uncertain significance Single submitter
- CBFA2T3 p.Arg456His Uncertain significance Single submitter
- CBFA2T3 p.Arg55Lys Uncertain significance Single submitter
- CBFA2T3 p.Arg638His Uncertain significance Single submitter
- CBFA2T3 p.Arg638Leu Uncertain significance Single submitter
- CBFA2T3 p.Arg653His Uncertain significance Single submitter
- CBFA2T3 p.Arg93His Uncertain significance Single submitter
- CBFA2T3 p.Asn150Ser Uncertain significance Single submitter
- CBFA2T3 p.Asp440Ala Uncertain significance Single submitter
- CBFA2T3 p.Asp605Asn Uncertain significance Single submitter
- CBFA2T3 p.Cys250Phe Uncertain significance Single submitter
- CBFA2T3 p.Gln185Lys Uncertain significance Single submitter
- CBFA2T3 p.Gln506Leu Uncertain significance Single submitter
- CBFA2T3 p.Glu30Lys Uncertain significance Single submitter
- CBFA2T3 p.Glu442Lys Uncertain significance Single submitter
- CBFA2T3 p.Glu463Lys Uncertain significance Single submitter
- CBFA2T3 p.Glu586Gln Uncertain significance Single submitter
- CBFA2T3 p.Glu630Lys Uncertain significance Single submitter
- CBFA2T3 p.Gly130Ser Uncertain significance Single submitter
- CBFA2T3 p.Gly140Asp Uncertain significance Single submitter
- CBFA2T3 p.Gly147Ser Uncertain significance Single submitter
- CBFA2T3 p.Gly151Asp Uncertain significance Single submitter
- CBFA2T3 p.Gly16Arg Uncertain significance Single submitter
- CBFA2T3 p.Gly170Arg Uncertain significance Single submitter
- CBFA2T3 p.Gly291Ser Uncertain significance Single submitter
- CBFA2T3 p.Gly32Arg Uncertain significance Single submitter
- CBFA2T3 p.Gly38Cys Uncertain significance Single submitter
- CBFA2T3 p.Gly461Ser Uncertain significance Single submitter
- CBFA2T3 p.Gly480Ser Uncertain significance Single submitter
- CBFA2T3 p.Gly49Asp Uncertain significance Single submitter
- CBFA2T3 p.Gly49Ser Uncertain significance Single submitter
- CBFA2T3 p.Gly577Arg Uncertain significance Single submitter
- CBFA2T3 p.His102Arg Uncertain significance Single submitter
- CBFA2T3 p.His359Tyr Uncertain significance Single submitter
- CBFA2T3 p.Leu344Pro Uncertain significance Single submitter
- CBFA2T3 p.Phe97Ser Uncertain significance Single submitter
- CBFA2T3 p.Pro107Thr Uncertain significance Single submitter
- CBFA2T3 p.Pro111Ser Uncertain significance Single submitter
- CBFA2T3 p.Pro152Ser Uncertain significance Single submitter
- CBFA2T3 p.Pro166Arg Uncertain significance Single submitter
- CBFA2T3 p.Pro230Leu Uncertain significance Single submitter
- CBFA2T3 p.Pro2Leu Uncertain significance Single submitter
- CBFA2T3 p.Pro308Leu Uncertain significance Single submitter
- CBFA2T3 p.Pro334Leu Uncertain significance Single submitter
- CBFA2T3 p.Pro338Leu Uncertain significance Single submitter
- CBFA2T3 p.Pro340Leu Uncertain significance Single submitter
- CBFA2T3 p.Pro45Ala Uncertain significance Single submitter
- CBFA2T3 p.Pro50Ser Uncertain significance Single submitter
- CBFA2T3 p.Pro52Ser Uncertain significance Single submitter
- CBFA2T3 p.Pro599Ser Uncertain significance Single submitter
- CBFA2T3 p.Pro606Ser Uncertain significance Single submitter
- CBFA2T3 p.Pro619Ser Uncertain significance Single submitter
- CBFA2T3 p.Pro645Arg Uncertain significance Single submitter
- CBFA2T3 p.Pro78Ala Uncertain significance Single submitter
- CBFA2T3 p.Pro78Thr Uncertain significance Single submitter
- CBFA2T3 p.Pro95Ala Uncertain significance Single submitter
- CBFA2T3 p.Pro95Thr Uncertain significance Single submitter
- CBFA2T3 p.Ser189Thr Uncertain significance Single submitter
- CBFA2T3 p.Ser377Phe Uncertain significance Single submitter
- CBFA2T3 p.Ser4Leu Uncertain significance Single submitter
- CBFA2T3 p.Ser503Leu Uncertain significance Single submitter
- CBFA2T3 p.Ser643Thr Uncertain significance Single submitter
- CBFA2T3 p.Thr136Ala Uncertain significance Single submitter
- CBFA2T3 p.Thr212Met Uncertain significance Single submitter
- CBFA2T3 p.Thr320Ile Uncertain significance Single submitter
- CBFA2T3 p.Thr337Ile Uncertain significance Single submitter
- CBFA2T3 p.Thr413Met Uncertain significance Single submitter
- CBFA2T3 p.Val482Leu Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- CBFA2T3 p.Ala350Thr Uncertain significance Single submitter
- CBFA2T3 p.Ala87Glu Uncertain significance Single submitter
- CBFA2T3 p.Arg198Cys Uncertain significance Single submitter
- CBFA2T3 p.Arg200His Uncertain significance Single submitter
- CBFA2T3 p.Arg363Trp Uncertain significance Single submitter
- CBFA2T3 p.Arg368Cys Uncertain significance Single submitter
- CBFA2T3 p.Arg370Trp Uncertain significance Single submitter
- CBFA2T3 p.Arg378Gln Uncertain significance Single submitter
- CBFA2T3 p.Arg390Cys Uncertain significance Single submitter
- CBFA2T3 p.Arg390His Uncertain significance Single submitter
- CBFA2T3 p.Arg414Gln Uncertain significance Single submitter
- CBFA2T3 p.Arg428His Uncertain significance Single submitter
- CBFA2T3 p.Arg428Leu Uncertain significance Single submitter
- CBFA2T3 p.Arg436Gln Uncertain significance Single submitter
- CBFA2T3 p.Arg436Trp Uncertain significance Single submitter
- CBFA2T3 p.Arg437His Uncertain significance Single submitter
- CBFA2T3 p.Arg471Cys Uncertain significance Single submitter
- CBFA2T3 p.Arg499Gln Uncertain significance Single submitter
- CBFA2T3 p.Arg499Trp Uncertain significance Single submitter
- CBFA2T3 p.Arg536Gln Uncertain significance Single submitter
- CBFA2T3 p.Arg638Cys Uncertain significance Single submitter
- CBFA2T3 p.Asn146Ser Uncertain significance Single submitter
- CBFA2T3 p.Asp307Asn Uncertain significance Single submitter
- CBFA2T3 p.Cys118Tyr Uncertain significance Single submitter
- CBFA2T3 p.Cys125Tyr Uncertain significance Single submitter
- CBFA2T3 p.Gln506Arg Uncertain significance Single submitter
- CBFA2T3 p.Glu533Lys Uncertain significance Single submitter
- CBFA2T3 p.Glu612Lys Uncertain significance Single submitter
- CBFA2T3 p.His341Tyr Uncertain significance Single submitter
- CBFA2T3 p.His352Gln Uncertain significance Single submitter
- CBFA2T3 p.Ile195Thr Uncertain significance Single submitter
- CBFA2T3 p.Leu365Gln Uncertain significance Single submitter
- CBFA2T3 p.Lys316Gln Uncertain significance Single submitter
- CBFA2T3 p.Lys386Asn Uncertain significance Single submitter
- CBFA2T3 p.Pro142Arg Uncertain significance Single submitter
- CBFA2T3 p.Pro27His Uncertain significance Single submitter
- CBFA2T3 p.Pro2Gln Uncertain significance Single submitter
- CBFA2T3 p.Pro475Leu Uncertain significance Single submitter
- CBFA2T3 p.Pro606Leu Uncertain significance Single submitter
- CBFA2T3 p.Pro84Leu Uncertain significance Single submitter
- CBFA2T3 p.Ser12Ile Uncertain significance Single submitter
- CBFA2T3 p.Ser132Gly Uncertain significance Single submitter
- CBFA2T3 p.Ser175Arg Uncertain significance Single submitter
- CBFA2T3 p.Ser330Asn Uncertain significance Single submitter
- CBFA2T3 p.Ser40Cys Uncertain significance Single submitter
- CBFA2T3 p.Ser457Asn Likely benign Single submitter
- CBFA2T3 p.Ser564Thr Uncertain significance Single submitter
- CBFA2T3 p.Ser643Asn Uncertain significance Single submitter
- CBFA2T3 p.Thr295Met Uncertain significance Single submitter
- CBFA2T3 p.Thr418Met Uncertain significance Single submitter
- CBFA2T3 p.Thr522Met Uncertain significance Single submitter
All CBFA2T3 variants
Benign 1
- p.Ala534= Multiple submitters
Likely benign 9
- p.Ala441Thr Multiple submitters
- c.151+26120G>A Single submitter
- p.Ala452Thr Single submitter
- p.Arg317= Single submitter
- p.Arg326His Single submitter
- p.Gly38Ser Single submitter
- p.Ile138Val Single submitter
- p.Pro84= Single submitter
- p.Ser457Asn Single submitter ⚠
Uncertain significance 132
- p.Ala141Val Single submitter ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala350Thr Single submitter ⚠
- p.Ala449Thr Single submitter ⚠
- p.Ala451Thr Single submitter ⚠
- p.Ala460Pro Single submitter ⚠
- p.Ala460Thr Single submitter ⚠
- p.Ala631Thr Single submitter ⚠
- p.Ala67Gly Single submitter ⚠
- p.Ala87Glu Single submitter ⚠
- p.Ala91Thr Single submitter ⚠
- p.Arg103Gln Single submitter ⚠
- p.Arg114His Single submitter ⚠
- p.Arg198Cys Single submitter ⚠
- p.Arg200His Single submitter ⚠
- p.Arg358His Single submitter ⚠
- p.Arg363Trp Single submitter ⚠
- p.Arg366Gln Single submitter ⚠
- p.Arg368Cys Single submitter ⚠
- p.Arg370Trp Single submitter ⚠
- p.Arg378Gln Single submitter ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg390His Single submitter ⚠
- p.Arg414Gln Single submitter ⚠
- p.Arg414Trp Single submitter ⚠
- p.Arg428His Single submitter ⚠
- p.Arg428Leu Single submitter ⚠
- p.Arg436Gln Single submitter ⚠
- p.Arg436Trp Single submitter ⚠
- p.Arg437His Single submitter ⚠
- p.Arg454Gln Single submitter ⚠
- p.Arg456His Single submitter ⚠
- p.Arg471Cys Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg499Trp Single submitter ⚠
- p.Arg536Gln Single submitter ⚠
- p.Arg55Lys Single submitter ⚠
- p.Arg638Cys Single submitter ⚠
- p.Arg638His Single submitter ⚠
- p.Arg638Leu Single submitter ⚠
- p.Arg653His Single submitter ⚠
- p.Arg93His Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn150Ser Single submitter ⚠
- p.Asp307Asn Single submitter ⚠
- p.Asp440Ala Single submitter ⚠
- p.Asp605Asn Single submitter ⚠
- p.Cys118Tyr Single submitter ⚠
- p.Cys125Tyr Single submitter ⚠
- p.Cys250Phe Single submitter ⚠
- p.Gln185Lys Single submitter ⚠
- p.Gln506Arg Single submitter ⚠
- p.Gln506Leu Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu442Lys Single submitter ⚠
- p.Glu463Lys Single submitter ⚠
- p.Glu533Lys Single submitter ⚠
- p.Glu586Gln Single submitter ⚠
- p.Glu612Lys Single submitter ⚠
- p.Glu630Lys Single submitter ⚠
- p.Gly130Ser Single submitter ⚠
- p.Gly140Asp Single submitter ⚠
- p.Gly147Ser Single submitter ⚠
- p.Gly151Asp Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly170Arg Single submitter ⚠
- p.Gly291Ser Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly38Cys Single submitter ⚠
- p.Gly461Ser Single submitter ⚠
- p.Gly480Ser Single submitter ⚠
- p.Gly49Asp Single submitter ⚠
- p.Gly49Ser Single submitter ⚠
- p.Gly577Arg Single submitter ⚠
- p.His102Arg Single submitter ⚠
- p.His341Tyr Single submitter ⚠
- p.His352Gln Single submitter ⚠
- p.His359Tyr Single submitter ⚠
- p.Ile195Thr Single submitter ⚠
- p.Leu344Pro Single submitter ⚠
- p.Leu365Gln Single submitter ⚠
- p.Lys316Gln Single submitter ⚠
- p.Lys386Asn Single submitter ⚠
- p.Phe97Ser Single submitter ⚠
- p.Pro107Thr Single submitter ⚠
- p.Pro111Ser Single submitter ⚠
- p.Pro142Arg Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Pro166Arg Single submitter ⚠
- p.Pro230Leu Single submitter ⚠
- p.Pro27His Single submitter ⚠
- p.Pro2Gln Single submitter ⚠
- p.Pro2Leu Single submitter ⚠
- p.Pro308Leu Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Pro340Leu Single submitter ⚠
- p.Pro45Ala Single submitter ⚠
- p.Pro475Leu Single submitter ⚠
- p.Pro50Ser Single submitter ⚠
- p.Pro52Ser Single submitter ⚠
- p.Pro599Ser Single submitter ⚠
- p.Pro606Leu Single submitter ⚠
- p.Pro606Ser Single submitter ⚠
- p.Pro619Ser Single submitter ⚠
- p.Pro645Arg Single submitter ⚠
- p.Pro78Ala Single submitter ⚠
- p.Pro78Thr Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Pro95Ala Single submitter ⚠
- p.Pro95Thr Single submitter ⚠
- p.Ser12Ile Single submitter ⚠
- p.Ser132Gly Single submitter ⚠
- p.Ser175Arg Single submitter ⚠
- p.Ser189Thr Single submitter ⚠
- p.Ser330Asn Single submitter ⚠
- p.Ser377Phe Single submitter ⚠
- p.Ser40Cys Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Ser503Leu Single submitter ⚠
- p.Ser564Thr Single submitter ⚠
- p.Ser643Asn Single submitter ⚠
- p.Ser643Thr Single submitter ⚠
- p.Thr136Ala Single submitter ⚠
- p.Thr212Met Single submitter ⚠
- p.Thr295Met Single submitter ⚠
- p.Thr320Ile Single submitter ⚠
- p.Thr337Ile Single submitter ⚠
- p.Thr413Met Single submitter ⚠
- p.Thr418Met Single submitter ⚠
- p.Thr522Met Single submitter ⚠
- p.Val482Leu Single submitter ⚠