BAMBI — 41 ClinVar variants
All ClinVar germline BAMBI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Benign · 1 Benign/Likely benign · 1 Likely benign · 38 Uncertain significance
Full BAMBI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BAMBI p.Ala209Val Uncertain significance Single submitter
- BAMBI p.Arg107Lys Uncertain significance Single submitter
- BAMBI p.Arg187Gln Uncertain significance Single submitter
- BAMBI p.Arg193His Uncertain significance Single submitter
- BAMBI p.Arg3Pro Uncertain significance Single submitter
- BAMBI p.Arg86Gly Uncertain significance Single submitter
- BAMBI p.Asp78Asn Uncertain significance Single submitter
- BAMBI p.Glu147Asp Uncertain significance Single submitter
- BAMBI p.Glu223Lys Uncertain significance Single submitter
- BAMBI p.Glu97Gln Uncertain significance Single submitter
- BAMBI p.Gly124Arg Uncertain significance Single submitter
- BAMBI p.His110Pro Uncertain significance Single submitter
- BAMBI p.Leu16Val Uncertain significance Single submitter
- BAMBI p.Leu48Ile Uncertain significance Single submitter
- BAMBI p.Lys205Thr Uncertain significance Single submitter
- BAMBI p.Met216Leu Uncertain significance Single submitter
- BAMBI p.Met250Thr Uncertain significance Single submitter
- BAMBI p.Pro115Ser Uncertain significance Single submitter
- BAMBI p.Pro94His Uncertain significance Single submitter
- BAMBI p.Ser49Gly Uncertain significance Single submitter
- BAMBI p.Ser6Thr Uncertain significance Single submitter
- BAMBI p.Thr137Asn Uncertain significance Single submitter
- BAMBI p.Thr91Asn Uncertain significance Single submitter
- BAMBI p.Tyr7Cys Uncertain significance Single submitter
- BAMBI p.Val219Asp Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- BAMBI p.Arg107Thr Uncertain significance Single submitter
- BAMBI p.Arg177Gln Uncertain significance Single submitter
- BAMBI p.Arg193Ser Uncertain significance Single submitter
- BAMBI p.Leu113Phe Uncertain significance Single submitter
- BAMBI p.Leu56Ile Uncertain significance Single submitter
- BAMBI p.Leu56Pro Uncertain significance Single submitter
- BAMBI p.Met170Ile Uncertain significance Single submitter
- BAMBI p.Ser145Pro Uncertain significance Single submitter
- BAMBI p.Ser244Leu Uncertain significance Single submitter
- BAMBI p.Thr66Ile Uncertain significance Single submitter
- BAMBI p.Val139Glu Uncertain significance Single submitter
- BAMBI p.Val166Met Uncertain significance Single submitter
- BAMBI p.Val260Glu Uncertain significance Single submitter
All BAMBI variants
Benign 1
- p.Arg126= Multiple submitters
Benign/Likely benign 1
- p.Val208Ile Multiple submitters
Likely benign 1
- p.His254= Single submitter
Uncertain significance 38
- p.Ala209Val Single submitter ⚠
- p.Arg107Lys Single submitter ⚠
- p.Arg107Thr Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg187Gln Single submitter ⚠
- p.Arg193His Single submitter ⚠
- p.Arg193Ser Single submitter ⚠
- p.Arg3Pro Single submitter ⚠
- p.Arg86Gly Single submitter ⚠
- p.Asp78Asn Single submitter ⚠
- p.Glu147Asp Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu97Gln Single submitter ⚠
- p.Gly124Arg Single submitter ⚠
- p.His110Pro Single submitter ⚠
- p.Leu113Phe Single submitter ⚠
- p.Leu16Val Single submitter ⚠
- p.Leu48Ile Single submitter ⚠
- p.Leu56Ile Single submitter ⚠
- p.Leu56Pro Single submitter ⚠
- p.Lys205Thr Single submitter ⚠
- p.Met170Ile Single submitter ⚠
- p.Met216Leu Single submitter ⚠
- p.Met250Thr Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro94His Single submitter ⚠
- p.Ser145Pro Single submitter ⚠
- p.Ser244Leu Single submitter ⚠
- p.Ser49Gly Single submitter ⚠
- p.Ser6Thr Single submitter ⚠
- p.Thr137Asn Single submitter ⚠
- p.Thr66Ile Single submitter ⚠
- p.Thr91Asn Single submitter ⚠
- p.Tyr7Cys Single submitter ⚠
- p.Val139Glu Single submitter ⚠
- p.Val166Met Single submitter ⚠
- p.Val219Asp Single submitter ⚠
- p.Val260Glu Single submitter ⚠