BORA — 63 ClinVar variants
All ClinVar germline BORA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
3 Likely benign · 60 Uncertain significance
Full BORA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BORA p.Ala258Val Uncertain significance Single submitter
- BORA p.Ala40Thr Uncertain significance Single submitter
- BORA p.Ala40Val Uncertain significance Single submitter
- BORA p.Ala551Val Uncertain significance Single submitter
- BORA p.Arg317Gly Uncertain significance Single submitter
- BORA p.Asn492Ile Uncertain significance Single submitter
- BORA p.Asp301Gly Uncertain significance Single submitter
- BORA p.Asp379Asn Uncertain significance Single submitter
- BORA p.Asp453Asn Uncertain significance Single submitter
- BORA p.Cys526Arg Uncertain significance Single submitter
- BORA p.Cys546Phe Uncertain significance Single submitter
- BORA p.Gln292Arg Uncertain significance Single submitter
- BORA p.Gln555Leu Uncertain significance Single submitter
- BORA p.Glu281Val Uncertain significance Single submitter
- BORA p.Glu286Gln Uncertain significance Single submitter
- BORA p.Glu425Val Uncertain significance Single submitter
- BORA p.Glu527Gln Uncertain significance Single submitter
- BORA p.His117Arg Uncertain significance Single submitter
- BORA p.His77Arg Uncertain significance Single submitter
- BORA p.His85Arg Uncertain significance Single submitter
- BORA p.Ile145Val Uncertain significance Single submitter
- BORA p.Ile272Thr Uncertain significance Single submitter
- BORA p.Met333Val Uncertain significance Single submitter
- BORA p.Met337Thr Uncertain significance Single submitter
- BORA p.Met378Thr Uncertain significance Single submitter
- BORA p.Met459Val Uncertain significance Single submitter
- BORA p.Met495Leu Uncertain significance Single submitter
- BORA p.Pro369Leu Uncertain significance Single submitter
- BORA p.Pro438Leu Uncertain significance Single submitter
- BORA p.Pro553Leu Uncertain significance Single submitter
- BORA p.Pro559Thr Uncertain significance Single submitter
- BORA p.Ser246Leu Uncertain significance Single submitter
- BORA p.Ser290Pro Uncertain significance Single submitter
- BORA p.Ser464Gly Uncertain significance Single submitter
- BORA p.Ser469Asn Uncertain significance Single submitter
- BORA p.Thr115Ala Uncertain significance Single submitter
- BORA p.Thr131Ser Uncertain significance Single submitter
- BORA p.Thr296Ile Uncertain significance Single submitter
- BORA p.Thr354Ile Uncertain significance Single submitter
- BORA p.Thr402Ser Uncertain significance Single submitter
- BORA p.Trp330Arg Uncertain significance Single submitter
- BORA p.Tyr31Phe Uncertain significance Single submitter
- BORA p.Tyr82Phe Uncertain significance Single submitter
- BORA p.Val235Leu Uncertain significance Single submitter
- BORA p.Val452Phe Uncertain significance Single submitter
- BORA p.Val65Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- BORA p.Arg386Trp Uncertain significance Single submitter
- BORA p.Arg78His Uncertain significance Single submitter
- BORA p.Asp379Tyr Uncertain significance Single submitter
- BORA p.Asp61Gly Uncertain significance Single submitter
- BORA p.Asp89Glu Uncertain significance Single submitter
- BORA p.Cys324Ser Uncertain significance Single submitter
- BORA p.Ile169Met Uncertain significance Single submitter
- BORA p.Phe277Leu Uncertain significance Single submitter
- BORA p.Pro332Thr Uncertain significance Single submitter
- BORA p.Pro42Ser Uncertain significance Single submitter
- BORA p.Ser325Leu Uncertain significance Single submitter
- BORA p.Ser405Phe Uncertain significance Single submitter
- BORA p.Ser464Arg Uncertain significance Single submitter
- BORA p.Ser558Gly Uncertain significance Single submitter
All BORA variants
Likely benign 3
- p.Asp151Asn Single submitter
- p.Cys125Tyr Single submitter
- p.Ile441Thr Single submitter
Uncertain significance 60
- p.Ala258Val Single submitter ⚠
- p.Ala40Thr Single submitter ⚠
- p.Ala40Val Single submitter ⚠
- p.Ala551Val Single submitter ⚠
- p.Arg317Gly Single submitter ⚠
- p.Arg386Trp Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Asn492Ile Single submitter ⚠
- p.Asp301Gly Single submitter ⚠
- p.Asp379Asn Single submitter ⚠
- p.Asp379Tyr Single submitter ⚠
- p.Asp453Asn Single submitter ⚠
- p.Asp61Gly Single submitter ⚠
- p.Asp89Glu Single submitter ⚠
- p.Cys324Ser Single submitter ⚠
- p.Cys526Arg Single submitter ⚠
- p.Cys546Phe Single submitter ⚠
- p.Gln292Arg Single submitter ⚠
- p.Gln555Leu Single submitter ⚠
- p.Glu281Val Single submitter ⚠
- p.Glu286Gln Single submitter ⚠
- p.Glu425Val Single submitter ⚠
- p.Glu527Gln Single submitter ⚠
- p.His117Arg Single submitter ⚠
- p.His77Arg Single submitter ⚠
- p.His85Arg Single submitter ⚠
- p.Ile145Val Single submitter ⚠
- p.Ile169Met Single submitter ⚠
- p.Ile272Thr Single submitter ⚠
- p.Met333Val Single submitter ⚠
- p.Met337Thr Single submitter ⚠
- p.Met378Thr Single submitter ⚠
- p.Met459Val Single submitter ⚠
- p.Met495Leu Single submitter ⚠
- p.Phe277Leu Single submitter ⚠
- p.Pro332Thr Single submitter ⚠
- p.Pro369Leu Single submitter ⚠
- p.Pro42Ser Single submitter ⚠
- p.Pro438Leu Single submitter ⚠
- p.Pro553Leu Single submitter ⚠
- p.Pro559Thr Single submitter ⚠
- p.Ser246Leu Single submitter ⚠
- p.Ser290Pro Single submitter ⚠
- p.Ser325Leu Single submitter ⚠
- p.Ser405Phe Single submitter ⚠
- p.Ser464Arg Single submitter ⚠
- p.Ser464Gly Single submitter ⚠
- p.Ser469Asn Single submitter ⚠
- p.Ser558Gly Single submitter ⚠
- p.Thr115Ala Single submitter ⚠
- p.Thr131Ser Single submitter ⚠
- p.Thr296Ile Single submitter ⚠
- p.Thr354Ile Single submitter ⚠
- p.Thr402Ser Single submitter ⚠
- p.Trp330Arg Single submitter ⚠
- p.Tyr31Phe Single submitter ⚠
- p.Tyr82Phe Single submitter ⚠
- p.Val235Leu Single submitter ⚠
- p.Val452Phe Single submitter ⚠
- p.Val65Ile Single submitter ⚠