BBOX1 — 60 ClinVar variants
All ClinVar germline BBOX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
3 Benign · 1 Likely benign · 56 Uncertain significance
Full BBOX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BBOX1 p.Ala14Asp Uncertain significance Single submitter
- BBOX1 p.Ala193Ser Uncertain significance Single submitter
- BBOX1 p.Ala354Thr Uncertain significance Single submitter
- BBOX1 p.Arg51Trp Uncertain significance Single submitter
- BBOX1 p.Asp188Asn Uncertain significance Single submitter
- BBOX1 p.Asp281His Uncertain significance Single submitter
- BBOX1 p.Asp336Val Uncertain significance Single submitter
- BBOX1 p.Cys3Arg Uncertain significance Single submitter
- BBOX1 p.Cys3Ser Uncertain significance Single submitter
- BBOX1 p.Gln121His Uncertain significance Single submitter
- BBOX1 p.Gln6Glu Uncertain significance Single submitter
- BBOX1 p.Glu81Lys Uncertain significance Single submitter
- BBOX1 p.Gly227Asp Uncertain significance Single submitter
- BBOX1 p.Gly348Val Uncertain significance Single submitter
- BBOX1 p.His136Gln Uncertain significance Single submitter
- BBOX1 p.His179Tyr Uncertain significance Single submitter
- BBOX1 p.His209Arg Uncertain significance Single submitter
- BBOX1 p.His347Gln Uncertain significance Single submitter
- BBOX1 p.Ile262Thr Uncertain significance Single submitter
- BBOX1 p.Ile338Asn Uncertain significance Single submitter
- BBOX1 p.Lys167Glu Uncertain significance Single submitter
- BBOX1 p.Lys327Asn Uncertain significance Single submitter
- BBOX1 p.Met169Leu Uncertain significance Single submitter
- BBOX1 p.Phe201Ser Uncertain significance Single submitter
- BBOX1 p.Pro39Leu Uncertain significance Single submitter
- BBOX1 p.Ser200Gly Uncertain significance Single submitter
- BBOX1 p.Trp116Arg Uncertain significance Single submitter
- BBOX1 p.Trp78Arg Uncertain significance Single submitter
- BBOX1 p.Tyr115Asn Uncertain significance Single submitter
- BBOX1 p.Tyr83Asn Uncertain significance Single submitter
- BBOX1 p.Val214Ile Uncertain significance Single submitter
- BBOX1 p.Val257Ala Uncertain significance Single submitter
- BBOX1 p.Val257Gly Uncertain significance Single submitter
- BBOX1 p.Val304Leu Uncertain significance Single submitter
- BBOX1 p.Val55Leu Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- BBOX1 p.Ala155Thr Uncertain significance Single submitter
- BBOX1 p.Ala248Val Uncertain significance Single submitter
- BBOX1 p.Arg288Cys Uncertain significance Single submitter
- BBOX1 p.Asp70Val Uncertain significance Single submitter
- BBOX1 p.Asp89Val Uncertain significance Single submitter
- BBOX1 p.Glu26Ala Uncertain significance Single submitter
- BBOX1 p.Glu357Gln Uncertain significance Single submitter
- BBOX1 p.Glu81Val Uncertain significance Single submitter
- BBOX1 p.Gly117Val Uncertain significance Single submitter
- BBOX1 p.Gly13Arg Uncertain significance Single submitter
- BBOX1 p.Gly154Arg Uncertain significance Single submitter
- BBOX1 p.Gly386Glu Uncertain significance Single submitter
- BBOX1 p.Leu320Arg Uncertain significance Single submitter
- BBOX1 p.Leu320His Uncertain significance Single submitter
- BBOX1 p.Phe328Leu Uncertain significance Single submitter
- BBOX1 p.Pro123Ser Uncertain significance Single submitter
- BBOX1 p.Pro206Ala Uncertain significance Single submitter
- BBOX1 p.Pro246Leu Uncertain significance Single submitter
- BBOX1 p.Ser351Asn Uncertain significance Single submitter
- BBOX1 p.Thr203Ser Uncertain significance Single submitter
- BBOX1 p.Tyr194Phe Uncertain significance Single submitter
All BBOX1 variants
Likely benign 1
- p.Leu320= No assertion criteria BBOX1-related disorder
Uncertain significance 56
- p.Ala14Asp Single submitter ⚠
- p.Ala155Thr Single submitter ⚠
- p.Ala193Ser Single submitter ⚠
- p.Ala248Val Single submitter ⚠
- p.Ala354Thr Single submitter ⚠
- p.Arg288Cys Single submitter ⚠
- p.Arg51Trp Single submitter ⚠
- p.Asp188Asn Single submitter ⚠
- p.Asp281His Single submitter ⚠
- p.Asp336Val Single submitter ⚠
- p.Asp70Val Single submitter ⚠
- p.Asp89Val Single submitter ⚠
- p.Cys3Arg Single submitter ⚠
- p.Cys3Ser Single submitter ⚠
- p.Gln121His Single submitter ⚠
- p.Gln6Glu Single submitter ⚠
- p.Glu26Ala Single submitter ⚠
- p.Glu357Gln Single submitter ⚠
- p.Glu81Lys Single submitter ⚠
- p.Glu81Val Single submitter ⚠
- p.Gly117Val Single submitter ⚠
- p.Gly13Arg Single submitter ⚠
- p.Gly154Arg Single submitter ⚠
- p.Gly227Asp Single submitter ⚠
- p.Gly348Val Single submitter ⚠
- p.Gly386Glu Single submitter ⚠
- p.His136Gln Single submitter ⚠
- p.His179Tyr Single submitter ⚠
- p.His209Arg Single submitter ⚠
- p.His347Gln Single submitter ⚠
- p.Ile262Thr Single submitter ⚠
- p.Ile338Asn Single submitter ⚠
- p.Leu320Arg Single submitter ⚠
- p.Leu320His Single submitter ⚠
- p.Lys167Glu Single submitter ⚠
- p.Lys327Asn Single submitter ⚠
- p.Met169Leu Single submitter ⚠
- p.Phe201Ser Single submitter ⚠
- p.Phe328Leu Single submitter ⚠
- p.Pro123Ser Single submitter ⚠
- p.Pro206Ala Single submitter ⚠
- p.Pro246Leu Single submitter ⚠
- p.Pro39Leu Single submitter ⚠
- p.Ser200Gly Single submitter ⚠
- p.Ser351Asn Single submitter ⚠
- p.Thr203Ser Single submitter ⚠
- p.Trp116Arg Single submitter ⚠
- p.Trp78Arg Single submitter ⚠
- p.Tyr115Asn Single submitter ⚠
- p.Tyr194Phe Single submitter ⚠
- p.Tyr83Asn Single submitter ⚠
- p.Val214Ile Single submitter ⚠
- p.Val257Ala Single submitter ⚠
- p.Val257Gly Single submitter ⚠
- p.Val304Leu Single submitter ⚠
- p.Val55Leu Single submitter ⚠