BDKRB1 — 61 ClinVar variants
All ClinVar germline BDKRB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
5 Likely benign · 56 Uncertain significance
Full BDKRB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BDKRB1 p.Ala119Val Uncertain significance Single submitter
- BDKRB1 p.Ala280Glu Uncertain significance Single submitter
- BDKRB1 p.Ala29Pro Uncertain significance Single submitter
- BDKRB1 p.Ala336Pro Uncertain significance Single submitter
- BDKRB1 p.Ala94Glu Uncertain significance Single submitter
- BDKRB1 p.Arg111His Uncertain significance Single submitter
- BDKRB1 p.Arg135His Uncertain significance Single submitter
- BDKRB1 p.Arg135Leu Uncertain significance Single submitter
- BDKRB1 p.Arg137His Uncertain significance Single submitter
- BDKRB1 p.Arg146Gln Uncertain significance Single submitter
- BDKRB1 p.Arg151Trp Uncertain significance Single submitter
- BDKRB1 p.Arg155Trp Uncertain significance Single submitter
- BDKRB1 p.Arg232Trp Uncertain significance Single submitter
- BDKRB1 p.Arg243Leu Uncertain significance Single submitter
- BDKRB1 p.Arg38Thr Uncertain significance Single submitter
- BDKRB1 p.Arg66Trp Uncertain significance Single submitter
- BDKRB1 p.Asn14Asp Uncertain significance Single submitter
- BDKRB1 p.Asp34Val Uncertain significance Single submitter
- BDKRB1 p.Asp83Ala Uncertain significance Single submitter
- BDKRB1 p.Cys158Tyr Uncertain significance Single submitter
- BDKRB1 p.Gln179Glu Uncertain significance Single submitter
- BDKRB1 p.Gln279Lys Uncertain significance Single submitter
- BDKRB1 p.Gly106Arg Uncertain significance Single submitter
- BDKRB1 p.Gly115Arg Uncertain significance Single submitter
- BDKRB1 p.His195Arg Uncertain significance Single submitter
- BDKRB1 p.His195Asn Uncertain significance Single submitter
- BDKRB1 p.Ile125Val Uncertain significance Single submitter
- BDKRB1 p.Ile190Met Uncertain significance Single submitter
- BDKRB1 p.Leu174Val Uncertain significance Single submitter
- BDKRB1 p.Leu18Pro Uncertain significance Single submitter
- BDKRB1 p.Met143Ile Uncertain significance Single submitter
- BDKRB1 p.Met143Val Uncertain significance Single submitter
- BDKRB1 p.Phe19Leu Uncertain significance Single submitter
- BDKRB1 p.Ser228Phe Uncertain significance Single submitter
- BDKRB1 p.Ser4Phe Uncertain significance Single submitter
- BDKRB1 p.Ser4Tyr Uncertain significance Single submitter
- BDKRB1 p.Thr231Met Uncertain significance Single submitter
- BDKRB1 p.Thr24Met Uncertain significance Single submitter
- BDKRB1 p.Thr42Ile Uncertain significance Single submitter
- BDKRB1 p.Trp162Arg Uncertain significance Single submitter
- BDKRB1 p.Trp263Arg Uncertain significance Single submitter
- BDKRB1 p.Val138Met Uncertain significance Single submitter
- BDKRB1 p.Val159Met Uncertain significance Single submitter
- BDKRB1 p.Val71Ala Uncertain significance Single submitter
- BDKRB1 p.Val85Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- BDKRB1 p.Arg150Trp Uncertain significance Single submitter
- BDKRB1 p.Arg67Trp Uncertain significance Single submitter
- BDKRB1 p.Asn114Lys Uncertain significance Single submitter
- BDKRB1 p.Asn298Lys Uncertain significance Single submitter
- BDKRB1 p.Phe220Val Uncertain significance Single submitter
- BDKRB1 p.Phe221Ile Uncertain significance Single submitter
- BDKRB1 p.Thr187Ile Uncertain significance Single submitter
- BDKRB1 p.Thr254Met Uncertain significance Single submitter
All BDKRB1 variants
Likely benign 5
- p.Ala336Thr Single submitter
- p.Arg282Gln Single submitter
- p.Leu10Phe Single submitter
- p.Thr303Ile Single submitter
- p.Val310Leu Single submitter
Uncertain significance 56
- p.Ala119Val Single submitter ⚠
- p.Ala280Glu Single submitter ⚠
- p.Ala29Pro Single submitter ⚠
- p.Ala336Pro Single submitter ⚠
- p.Ala94Glu Single submitter ⚠
- p.Arg111Cys Single submitter
- p.Arg111Gly Single submitter
- p.Arg111His Single submitter ⚠
- p.Arg135His Single submitter ⚠
- p.Arg135Leu Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg150Trp Single submitter ⚠
- p.Arg151Trp Single submitter ⚠
- p.Arg155Trp Single submitter ⚠
- p.Arg176Gln Single submitter
- p.Arg232Trp Single submitter ⚠
- p.Arg243Leu Single submitter ⚠
- p.Arg38Thr Single submitter ⚠
- p.Arg66Trp Single submitter ⚠
- p.Arg67Trp Single submitter ⚠
- p.Asn114Lys Single submitter ⚠
- p.Asn14Asp Single submitter ⚠
- p.Asn298Lys Single submitter ⚠
- p.Asp34Val Single submitter ⚠
- p.Asp83Ala Single submitter ⚠
- p.Cys158Tyr Single submitter ⚠
- p.Gln179Glu Single submitter ⚠
- p.Gln279Lys Single submitter ⚠
- p.Gly106Arg Single submitter ⚠
- p.Gly115Arg Single submitter ⚠
- p.His195Arg Single submitter ⚠
- p.His195Asn Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Ile190Met Single submitter ⚠
- p.Leu174Val Single submitter ⚠
- p.Leu18Pro Single submitter ⚠
- p.Met143Ile Single submitter ⚠
- p.Met143Val Single submitter ⚠
- p.Phe19Leu Single submitter ⚠
- p.Phe220Val Single submitter ⚠
- p.Phe221Ile Single submitter ⚠
- p.Ser228Phe Single submitter ⚠
- p.Ser4Phe Single submitter ⚠
- p.Ser4Tyr Single submitter ⚠
- p.Thr187Ile Single submitter ⚠
- p.Thr231Met Single submitter ⚠
- p.Thr24Met Single submitter ⚠
- p.Thr254Met Single submitter ⚠
- p.Thr42Ile Single submitter ⚠
- p.Trp162Arg Single submitter ⚠
- p.Trp263Arg Single submitter ⚠
- p.Val138Met Single submitter ⚠
- p.Val159Met Single submitter ⚠
- p.Val71Ala Single submitter ⚠
- p.Val85Met Single submitter ⚠