EBF4 — 115 ClinVar variants
All ClinVar germline EBF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
2 Benign · 1 Likely benign · 112 Uncertain significance
Full EBF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EBF4 p.Ala102Thr Uncertain significance Single submitter
- EBF4 p.Ala102Val Uncertain significance Single submitter
- EBF4 p.Ala402Thr Uncertain significance Single submitter
- EBF4 p.Ala438Ser Uncertain significance Single submitter
- EBF4 p.Ala522Val Uncertain significance Single submitter
- EBF4 p.Ala593Val Uncertain significance Single submitter
- EBF4 p.Arg10Gly Uncertain significance Single submitter
- EBF4 p.Arg114Leu Uncertain significance Single submitter
- EBF4 p.Arg174Gln Uncertain significance Single submitter
- EBF4 p.Arg174Gly Uncertain significance Single submitter
- EBF4 p.Arg210His Uncertain significance Single submitter
- EBF4 p.Arg243His Uncertain significance Single submitter
- EBF4 p.Arg366Thr Uncertain significance Single submitter
- EBF4 p.Arg410His Uncertain significance Single submitter
- EBF4 p.Arg553Lys Uncertain significance Single submitter
- EBF4 p.Arg594Trp Uncertain significance Single submitter
- EBF4 p.Asn119Ser Uncertain significance Single submitter
- EBF4 p.Asn504Asp Uncertain significance Single submitter
- EBF4 p.Asp133Asn Uncertain significance Single submitter
- EBF4 p.Asp146Gly Uncertain significance Single submitter
- EBF4 p.Asp223Glu Uncertain significance Single submitter
- EBF4 p.Asp283Tyr Uncertain significance Single submitter
- EBF4 p.Gln145Leu Uncertain significance Single submitter
- EBF4 p.Gln286Arg Uncertain significance Single submitter
- EBF4 p.Gln471Lys Uncertain significance Single submitter
- EBF4 p.Gln568Glu Uncertain significance Single submitter
- EBF4 p.Gly266Ser Uncertain significance Single submitter
- EBF4 p.Gly413Arg Uncertain significance Single submitter
- EBF4 p.Gly413Trp Uncertain significance Single submitter
- EBF4 p.Gly429Ala Uncertain significance Single submitter
- EBF4 p.Gly442Arg Uncertain significance Single submitter
- EBF4 p.Gly447Glu Uncertain significance Single submitter
- EBF4 p.Gly469Arg Uncertain significance Single submitter
- EBF4 p.Gly484Ser Uncertain significance Single submitter
- EBF4 p.Gly495Ser Uncertain significance Single submitter
- EBF4 p.His241Gln Uncertain significance Single submitter
- EBF4 p.His574Arg Uncertain significance Single submitter
- EBF4 p.Leu293Pro Uncertain significance Single submitter
- EBF4 p.Leu393Val Uncertain significance Single submitter
- EBF4 p.Leu8Val Uncertain significance Single submitter
- EBF4 p.Met135Val Uncertain significance Single submitter
- EBF4 p.Met527Ile Uncertain significance Single submitter
- EBF4 p.Met546Val Uncertain significance Single submitter
- EBF4 p.Met75Leu Uncertain significance Single submitter
- EBF4 p.Pro100Ala Uncertain significance Single submitter
- EBF4 p.Pro19Thr Uncertain significance Single submitter
- EBF4 p.Pro256Leu Uncertain significance Single submitter
- EBF4 p.Pro256Thr Uncertain significance Single submitter
- EBF4 p.Pro310Leu Uncertain significance Single submitter
- EBF4 p.Pro412Ala Uncertain significance Single submitter
- EBF4 p.Pro436Gln Uncertain significance Single submitter
- EBF4 p.Pro446Arg Uncertain significance Single submitter
- EBF4 p.Pro448Ser Uncertain significance Single submitter
- EBF4 p.Pro520Arg Uncertain significance Single submitter
- EBF4 p.Pro520Gln Uncertain significance Single submitter
- EBF4 p.Pro520Leu Uncertain significance Single submitter
- EBF4 p.Pro530Leu Uncertain significance Single submitter
- EBF4 p.Pro562Ser Uncertain significance Single submitter
- EBF4 p.Pro567Thr Uncertain significance Single submitter
- EBF4 p.Pro571Ser Uncertain significance Single submitter
- EBF4 p.Pro592Leu Uncertain significance Single submitter
- EBF4 p.Ser27Thr Uncertain significance Single submitter
- EBF4 p.Ser434Gly Uncertain significance Single submitter
- EBF4 p.Ser66Cys Uncertain significance Single submitter
- EBF4 p.Thr177Met Uncertain significance Single submitter
- EBF4 p.Thr339Arg Uncertain significance Single submitter
- EBF4 p.Thr408Ile Uncertain significance Single submitter
- EBF4 p.Tyr475Cys Uncertain significance Single submitter
- EBF4 p.Tyr601Cys Uncertain significance Single submitter
- EBF4 p.Val276Ile Uncertain significance Single submitter
- EBF4 p.Val28Met Uncertain significance Single submitter
- EBF4 p.Val292Glu Uncertain significance Single submitter
- EBF4 p.Val427Ile Uncertain significance Single submitter
- EBF4 p.Val491Ala Uncertain significance Single submitter
- EBF4 p.Val550Ile Uncertain significance Single submitter
- EBF4 p.Val559Met Uncertain significance Single submitter
- EBF4 p.Val72Met Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- EBF4 p.Ala40Thr Uncertain significance Single submitter
- EBF4 p.Ala557Val Uncertain significance Single submitter
- EBF4 p.Arg112Cys Uncertain significance Single submitter
- EBF4 p.Arg112His Uncertain significance Single submitter
- EBF4 p.Arg168Gln Uncertain significance Single submitter
- EBF4 p.Arg561His Uncertain significance Single submitter
- EBF4 p.Arg78Gln Uncertain significance Single submitter
- EBF4 p.Arg78Trp Uncertain significance Single submitter
- EBF4 p.Asn280Ser Uncertain significance Single submitter
- EBF4 p.Asp185Asn Uncertain significance Single submitter
- EBF4 p.Gln327His Uncertain significance Single submitter
- EBF4 p.Gly101Arg Uncertain significance Single submitter
- EBF4 p.Gly101Trp Uncertain significance Single submitter
- EBF4 p.Gly26Arg Uncertain significance Single submitter
- EBF4 p.Gly476Cys Uncertain significance Single submitter
- EBF4 p.Ile184Val Uncertain significance Single submitter
- EBF4 p.Leu293Ile Uncertain significance Single submitter
- EBF4 p.Leu298Val Uncertain significance Single submitter
- EBF4 p.Leu38Pro Uncertain significance Single submitter
- EBF4 p.Lys147Arg Uncertain significance Single submitter
- EBF4 p.Phe502Leu Uncertain significance Single submitter
- EBF4 p.Phe512Leu Uncertain significance Single submitter
- EBF4 p.Phe541Ser Uncertain significance Single submitter
- EBF4 p.Ser407Arg Uncertain significance Single submitter
- EBF4 p.Ser458Arg Uncertain significance Single submitter
- EBF4 p.Ser460Cys Uncertain significance Single submitter
- EBF4 p.Ser473Arg Uncertain significance Single submitter
- EBF4 p.Ser61Pro Uncertain significance Single submitter
- EBF4 p.Val129Met Uncertain significance Single submitter
- EBF4 p.Val215Met Uncertain significance Single submitter
- EBF4 p.Val316Met Uncertain significance Single submitter
- EBF4 p.Val371Met Uncertain significance Single submitter
- EBF4 p.Val48Met Uncertain significance Single submitter
All EBF4 variants
Likely benign 1
- p.Gly477Ser Single submitter
Uncertain significance 112
- p.Ala102Thr Single submitter ⚠
- p.Ala102Val Single submitter ⚠
- p.Ala402Thr Single submitter ⚠
- p.Ala40Thr Single submitter ⚠
- p.Ala438Ser Single submitter ⚠
- p.Ala522Val Single submitter ⚠
- p.Ala557Val Single submitter ⚠
- p.Ala593Val Single submitter ⚠
- p.Arg10Gly Single submitter ⚠
- p.Arg112Cys Single submitter ⚠
- p.Arg112His Single submitter ⚠
- p.Arg114Leu Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg243His Single submitter ⚠
- p.Arg366Thr Single submitter ⚠
- p.Arg410His Single submitter ⚠
- p.Arg553Lys Single submitter ⚠
- p.Arg561His Single submitter ⚠
- p.Arg594Trp Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Arg78Trp Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Asn280Ser Single submitter ⚠
- p.Asn504Asp Single submitter ⚠
- p.Asp133Asn Single submitter ⚠
- p.Asp146Gly Single submitter ⚠
- p.Asp185Asn Single submitter ⚠
- p.Asp223Glu Single submitter ⚠
- p.Asp283Tyr Single submitter ⚠
- p.Gln145Leu Single submitter ⚠
- p.Gln286Arg Single submitter ⚠
- p.Gln327His Single submitter ⚠
- p.Gln471Lys Single submitter ⚠
- p.Gln568Glu Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.Gly101Trp Single submitter ⚠
- p.Gly266Ser Single submitter ⚠
- p.Gly26Arg Single submitter ⚠
- p.Gly413Arg Single submitter ⚠
- p.Gly413Trp Single submitter ⚠
- p.Gly429Ala Single submitter ⚠
- p.Gly442Arg Single submitter ⚠
- p.Gly447Glu Single submitter ⚠
- p.Gly469Arg Single submitter ⚠
- p.Gly476Cys Single submitter ⚠
- p.Gly484Ser Single submitter ⚠
- p.Gly495Ser Single submitter ⚠
- p.His241Gln Single submitter ⚠
- p.His574Arg Single submitter ⚠
- p.Ile184Val Single submitter ⚠
- p.Leu293Ile Single submitter ⚠
- p.Leu293Pro Single submitter ⚠
- p.Leu298Val Single submitter ⚠
- p.Leu38Pro Single submitter ⚠
- p.Leu393Val Single submitter ⚠
- p.Leu503Pro Single submitter
- p.Leu8Val Single submitter ⚠
- p.Lys147Arg Single submitter ⚠
- p.Met135Val Single submitter ⚠
- p.Met527Ile Single submitter ⚠
- p.Met546Val Single submitter ⚠
- p.Met75Leu Single submitter ⚠
- p.Phe502Leu Single submitter ⚠
- p.Phe512Leu Single submitter ⚠
- p.Phe541Ser Single submitter ⚠
- p.Pro100Ala Single submitter ⚠
- p.Pro19Thr Single submitter ⚠
- p.Pro256Leu Single submitter ⚠
- p.Pro256Thr Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Pro412Ala Single submitter ⚠
- p.Pro436Gln Single submitter ⚠
- p.Pro446Arg Single submitter ⚠
- p.Pro448Ser Single submitter ⚠
- p.Pro520Arg Single submitter ⚠
- p.Pro520Gln Single submitter ⚠
- p.Pro520Leu Single submitter ⚠
- p.Pro530Leu Single submitter ⚠
- p.Pro562Ser Single submitter ⚠
- p.Pro567Thr Single submitter ⚠
- p.Pro571Ser Single submitter ⚠
- p.Pro592Leu Single submitter ⚠
- p.Ser27Thr Single submitter ⚠
- p.Ser407Arg Single submitter ⚠
- p.Ser434Gly Single submitter ⚠
- p.Ser458Arg Single submitter ⚠
- p.Ser460Cys Single submitter ⚠
- p.Ser473Arg Single submitter ⚠
- p.Ser61Pro Single submitter ⚠
- p.Ser66Cys Single submitter ⚠
- p.Thr177Met Single submitter ⚠
- p.Thr339Arg Single submitter ⚠
- p.Thr408Ile Single submitter ⚠
- p.Tyr475Cys Single submitter ⚠
- p.Tyr601Cys Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val215Met Single submitter ⚠
- p.Val220Leu Single submitter
- p.Val276Ile Single submitter ⚠
- p.Val28Met Single submitter ⚠
- p.Val292Glu Single submitter ⚠
- p.Val316Met Single submitter ⚠
- p.Val371Met Single submitter ⚠
- p.Val427Ile Single submitter ⚠
- p.Val48Met Single submitter ⚠
- p.Val491Ala Single submitter ⚠
- p.Val550Ile Single submitter ⚠
- p.Val559Met Single submitter ⚠
- p.Val72Met Single submitter ⚠