BBX — 129 ClinVar variants
All ClinVar germline BBX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
4 Benign · 3 Likely benign · 122 Uncertain significance
Full BBX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BBX p.Ala139Thr Uncertain significance Single submitter
- BBX p.Ala143Gly Uncertain significance Single submitter
- BBX p.Ala354Thr Uncertain significance Single submitter
- BBX p.Ala375Thr Uncertain significance Single submitter
- BBX p.Ala592Thr Uncertain significance Single submitter
- BBX p.Ala687Pro Uncertain significance Single submitter
- BBX p.Ala687Thr Uncertain significance Single submitter
- BBX p.Ala892Pro Uncertain significance Single submitter
- BBX p.Ala900Thr Uncertain significance Single submitter
- BBX p.Arg108Gln Uncertain significance Single submitter
- BBX p.Arg179Gly Uncertain significance Single submitter
- BBX p.Arg349Lys Uncertain significance Single submitter
- BBX p.Arg710Gln Uncertain significance Single submitter
- BBX p.Arg717Gly Uncertain significance Single submitter
- BBX p.Arg842Gly Uncertain significance Single submitter
- BBX p.Arg95Cys Uncertain significance Single submitter
- BBX p.Arg95His Uncertain significance Single submitter
- BBX p.Asn165Ser Uncertain significance Single submitter
- BBX p.Asn563Ile Uncertain significance Single submitter
- BBX p.Asn760Ser Uncertain significance Single submitter
- BBX p.Asn7Ser Uncertain significance Single submitter
- BBX p.Asp138Val Uncertain significance Single submitter
- BBX p.Asp324Asn Uncertain significance Single submitter
- BBX p.Asp421Glu Uncertain significance Single submitter
- BBX p.Asp47Gly Uncertain significance Single submitter
- BBX p.Asp554Asn Uncertain significance Single submitter
- BBX p.Asp61Gly Uncertain significance Single submitter
- BBX p.Asp768Asn Uncertain significance Single submitter
- BBX p.Asp768Val Uncertain significance Single submitter
- BBX p.Asp778Glu Uncertain significance Single submitter
- BBX p.Asp869Asn Uncertain significance Single submitter
- BBX p.Asp9Asn Uncertain significance Single submitter
- BBX p.Gln127Arg Uncertain significance Single submitter
- BBX p.Gln377Lys Uncertain significance Single submitter
- BBX p.Glu235Gly Uncertain significance Single submitter
- BBX p.Glu238Gly Uncertain significance Single submitter
- BBX p.Glu501Gln Uncertain significance Single submitter
- BBX p.Glu570Val Uncertain significance Single submitter
- BBX p.Glu692Lys Uncertain significance Single submitter
- BBX p.Glu795Gln Uncertain significance Single submitter
- BBX p.Gly463Arg Uncertain significance Single submitter
- BBX p.Gly519Glu Uncertain significance Single submitter
- BBX p.Gly653Ala Uncertain significance Single submitter
- BBX p.Gly881Arg Uncertain significance Single submitter
- BBX p.Gly924Arg Uncertain significance Single submitter
- BBX p.His428Arg Uncertain significance Single submitter
- BBX p.His798Asp Uncertain significance Single submitter
- BBX p.His876Arg Uncertain significance Single submitter
- BBX p.Ile251Leu Uncertain significance Single submitter
- BBX p.Ile378Arg Uncertain significance Single submitter
- BBX p.Ile392Met Uncertain significance Single submitter
- BBX p.Ile417Val Uncertain significance Single submitter
- BBX p.Ile564Asn Uncertain significance Single submitter
- BBX p.Ile803Val Uncertain significance Single submitter
- BBX p.Leu105Pro Uncertain significance Single submitter
- BBX p.Leu57Ile Uncertain significance Single submitter
- BBX p.Leu899Phe Uncertain significance Single submitter
- BBX p.Lys764Glu Uncertain significance Single submitter
- BBX p.Lys873Asn Uncertain significance Single submitter
- BBX p.Lys92Glu Uncertain significance Single submitter
- BBX p.Met192Val Uncertain significance Single submitter
- BBX p.Met342Ile Uncertain significance Single submitter
- BBX p.Met538Ile Uncertain significance Single submitter
- BBX p.Met84Thr Uncertain significance Single submitter
- BBX p.Met929Ile Uncertain significance Single submitter
- BBX p.Pro123Leu Uncertain significance Single submitter
- BBX p.Pro151Leu Uncertain significance Single submitter
- BBX p.Pro553Leu Uncertain significance Single submitter
- BBX p.Pro579Leu Uncertain significance Single submitter
- BBX p.Pro585Ser Uncertain significance Single submitter
- BBX p.Pro678Ala Uncertain significance Single submitter
- BBX p.Pro762Leu Uncertain significance Single submitter
- BBX p.Pro782His Uncertain significance Single submitter
- BBX p.Pro796Leu Uncertain significance Single submitter
- BBX p.Pro796Ser Uncertain significance Single submitter
- BBX p.Pro810Ala Uncertain significance Single submitter
- BBX p.Pro933Ser Uncertain significance Single submitter
- BBX p.Ser367Pro Uncertain significance Single submitter
- BBX p.Ser665Asn Uncertain significance Single submitter
- BBX p.Ser75Leu Uncertain significance Single submitter
- BBX p.Thr348Ser Uncertain significance Single submitter
- BBX p.Thr506Ser Uncertain significance Single submitter
- BBX p.Thr546Ser Uncertain significance Single submitter
- BBX p.Thr605Ala Uncertain significance Single submitter
- BBX p.Thr783Ala Uncertain significance Single submitter
- BBX p.Thr809Ala Uncertain significance Single submitter
- BBX p.Thr838Ile Uncertain significance Single submitter
- BBX p.Thr887Ser Uncertain significance Single submitter
- BBX p.Trp149Arg Uncertain significance Single submitter
- BBX p.Val486Ile Uncertain significance Single submitter
- BBX p.Val797Phe Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- BBX p.Ala269Pro Uncertain significance Single submitter
- BBX p.Arg104Ser Uncertain significance Single submitter
- BBX p.Arg104Thr Uncertain significance Single submitter
- BBX p.Arg291Cys Uncertain significance Single submitter
- BBX p.Arg512Gly Uncertain significance Single submitter
- BBX p.Arg99His Uncertain significance Single submitter
- BBX p.Asn910His Uncertain significance Single submitter
- BBX p.Asp116Gly Uncertain significance Single submitter
- BBX p.Asp346Gly Uncertain significance Single submitter
- BBX p.Asp366His Uncertain significance Single submitter
- BBX p.Asp690Gly Uncertain significance Single submitter
- BBX p.Gln194Arg Uncertain significance Single submitter
- BBX p.Gln241Pro Uncertain significance Single submitter
- BBX p.Gln702Lys Uncertain significance Single submitter
- BBX p.Gln941Arg Uncertain significance Single submitter
- BBX p.Glu275Ala Uncertain significance Single submitter
- BBX p.Glu347Gly Uncertain significance Single submitter
- BBX p.Glu399Gln Uncertain significance Single submitter
- BBX p.Glu48Lys Uncertain significance Single submitter
- BBX p.His912Arg Uncertain significance Single submitter
- BBX p.Leu239Ile Uncertain significance Single submitter
- BBX p.Leu58Phe Uncertain significance Single submitter
- BBX p.Lys142Arg Uncertain significance Single submitter
- BBX p.Lys294Glu Uncertain significance Single submitter
- BBX p.Lys341Gln Uncertain significance Single submitter
- BBX p.Lys528Arg Uncertain significance Single submitter
- BBX p.Pro507Leu Uncertain significance Single submitter
- BBX p.Ser543Cys Uncertain significance Single submitter
- BBX p.Ser96Cys Uncertain significance Single submitter
- BBX p.Tyr136His Uncertain significance Single submitter
- BBX p.Val893Met Uncertain significance Single submitter
All BBX variants
Benign 4
- p.Ala442Thr Multiple submitters
- p.Ala892= Multiple submitters
- c.2353+4A>G Single submitter
- p.Ala260Val Single submitter
Uncertain significance 122
- p.Ala139Thr Single submitter ⚠
- p.Ala143Gly Single submitter ⚠
- p.Ala269Pro Single submitter ⚠
- p.Ala354Thr Single submitter ⚠
- p.Ala375Thr Single submitter ⚠
- p.Ala592Thr Single submitter ⚠
- p.Ala687Pro Single submitter ⚠
- p.Ala687Thr Single submitter ⚠
- p.Ala892Pro Single submitter ⚠
- p.Ala900Thr Single submitter ⚠
- p.Arg104Ser Single submitter ⚠
- p.Arg104Thr Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg179Gly Single submitter ⚠
- p.Arg291Cys Single submitter ⚠
- p.Arg349Lys Single submitter ⚠
- p.Arg512Gly Single submitter ⚠
- p.Arg710Gln Single submitter ⚠
- p.Arg717Gly Single submitter ⚠
- p.Arg842Gly Single submitter ⚠
- p.Arg95Cys Single submitter ⚠
- p.Arg95His Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asn165Ser Single submitter ⚠
- p.Asn563Ile Single submitter ⚠
- p.Asn760Ser Single submitter ⚠
- p.Asn7Ser Single submitter ⚠
- p.Asn910His Single submitter ⚠
- p.Asp116Gly Single submitter ⚠
- p.Asp138Val Single submitter ⚠
- p.Asp324Asn Single submitter ⚠
- p.Asp346Gly Single submitter ⚠
- p.Asp366His Single submitter ⚠
- p.Asp421Glu Single submitter ⚠
- p.Asp47Gly Single submitter ⚠
- p.Asp554Asn Single submitter ⚠
- p.Asp61Gly Single submitter ⚠
- p.Asp690Gly Single submitter ⚠
- p.Asp768Asn Single submitter ⚠
- p.Asp768Val Single submitter ⚠
- p.Asp778Glu Single submitter ⚠
- p.Asp869Asn Single submitter ⚠
- p.Asp9Asn Single submitter ⚠
- p.Gln127Arg Single submitter ⚠
- p.Gln194Arg Single submitter ⚠
- p.Gln241Pro Single submitter ⚠
- p.Gln377Lys Single submitter ⚠
- p.Gln702Lys Single submitter ⚠
- p.Gln941Arg Single submitter ⚠
- p.Glu235Gly Single submitter ⚠
- p.Glu238Gly Single submitter ⚠
- p.Glu275Ala Single submitter ⚠
- p.Glu347Gly Single submitter ⚠
- p.Glu399Gln Single submitter ⚠
- p.Glu48Lys Single submitter ⚠
- p.Glu501Gln Single submitter ⚠
- p.Glu570Val Single submitter ⚠
- p.Glu692Lys Single submitter ⚠
- p.Glu795Gln Single submitter ⚠
- p.Gly463Arg Single submitter ⚠
- p.Gly519Glu Single submitter ⚠
- p.Gly653Ala Single submitter ⚠
- p.Gly881Arg Single submitter ⚠
- p.Gly924Arg Single submitter ⚠
- p.His428Arg Single submitter ⚠
- p.His798Asp Single submitter ⚠
- p.His876Arg Single submitter ⚠
- p.His912Arg Single submitter ⚠
- p.Ile251Leu Single submitter ⚠
- p.Ile378Arg Single submitter ⚠
- p.Ile392Met Single submitter ⚠
- p.Ile417Val Single submitter ⚠
- p.Ile564Asn Single submitter ⚠
- p.Ile803Val Single submitter ⚠
- p.Leu105Pro Single submitter ⚠
- p.Leu239Ile Single submitter ⚠
- p.Leu57Ile Single submitter ⚠
- p.Leu58Phe Single submitter ⚠
- p.Leu899Phe Single submitter ⚠
- p.Lys142Arg Single submitter ⚠
- p.Lys294Glu Single submitter ⚠
- p.Lys341Gln Single submitter ⚠
- p.Lys528Arg Single submitter ⚠
- p.Lys764Glu Single submitter ⚠
- p.Lys873Asn Single submitter ⚠
- p.Lys92Glu Single submitter ⚠
- p.Met192Val Single submitter ⚠
- p.Met342Ile Single submitter ⚠
- p.Met538Ile Single submitter ⚠
- p.Met84Thr Single submitter ⚠
- p.Met929Ile Single submitter ⚠
- p.Pro123Leu Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Pro553Leu Single submitter ⚠
- p.Pro579Leu Single submitter ⚠
- p.Pro585Ser Single submitter ⚠
- p.Pro678Ala Single submitter ⚠
- p.Pro762Leu Single submitter ⚠
- p.Pro782His Single submitter ⚠
- p.Pro796Leu Single submitter ⚠
- p.Pro796Ser Single submitter ⚠
- p.Pro810Ala Single submitter ⚠
- p.Pro933Ser Single submitter ⚠
- p.Ser367Pro Single submitter ⚠
- p.Ser543Cys Single submitter ⚠
- p.Ser665Asn Single submitter ⚠
- p.Ser75Leu Single submitter ⚠
- p.Ser96Cys Single submitter ⚠
- p.Thr348Ser Single submitter ⚠
- p.Thr506Ser Single submitter ⚠
- p.Thr546Ser Single submitter ⚠
- p.Thr605Ala Single submitter ⚠
- p.Thr783Ala Single submitter ⚠
- p.Thr809Ala Single submitter ⚠
- p.Thr838Ile Single submitter ⚠
- p.Thr887Ser Single submitter ⚠
- p.Trp149Arg Single submitter ⚠
- p.Tyr136His Single submitter ⚠
- p.Val486Ile Single submitter ⚠
- p.Val797Phe Single submitter ⚠
- p.Val893Met Single submitter ⚠