BDKRB2 — 52 ClinVar variants

All ClinVar germline BDKRB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →

2 Benign · 6 Likely benign · 44 Uncertain significance

Full BDKRB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 43

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 39

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 4

The independent predictors disagree with each other — read with care.

All BDKRB2 variants

Benign 2

p.Asp311= Multiple submitters
p.Gly354Glu Multiple submitters

Likely benign 6

p.Arg14His Single submitter
p.Gly349Arg Single submitter
p.Gly354= Single submitter
p.Ile280Val Single submitter
p.Ile288Val Single submitter
p.Ser25= Single submitter

Uncertain significance 44

p.Ala101Thr Single submitter ⚠
p.Ala210Thr Single submitter ⚠
p.Arg167Gln Single submitter ⚠
p.Arg172His Single submitter ⚠
p.Arg252Gln Single submitter ⚠
p.Arg371Gln Single submitter ⚠
p.Asn207Lys Single submitter ⚠
p.Asp122Asn Single submitter ⚠
p.Asp16Asn Single submitter ⚠
p.Asp306Asn Single submitter ⚠
p.Cys282Phe Single submitter ⚠
p.Glu200Ala Single submitter ⚠
p.Glu255Lys Single submitter ⚠
p.Glu307Lys Single submitter ⚠
p.Glu74Gln Single submitter ⚠
p.Gly183Glu Single submitter ⚠
p.Gly299Asp Single submitter ⚠
p.Gly299Ser Single submitter ⚠
p.Gly349Ala Single submitter ⚠
p.Gly349Val Single submitter ⚠
p.Gly40Arg Single submitter ⚠
p.Ile181Met Single submitter ⚠
p.Ile313Thr Single submitter ⚠
p.Leu370Pro Single submitter
p.Leu70Met Single submitter ⚠
p.Leu79Val Single submitter ⚠
p.Met226Thr Single submitter ⚠
p.Met9Leu Single submitter ⚠
p.Phe42Val Single submitter ⚠
p.Pro285Leu Single submitter ⚠
p.Pro360Leu Single submitter ⚠
p.Pro62Arg Single submitter ⚠
p.Pro62His Single submitter ⚠
p.Thr209Asn Single submitter ⚠
p.Thr241Asn Single submitter ⚠
p.Thr294Met Single submitter ⚠
p.Thr372Ala Single submitter ⚠
p.Thr372Asn Single submitter ⚠
p.Tyr156His Single submitter ⚠
p.Val171Met Single submitter ⚠
p.Val270Met Single submitter ⚠
p.Val312Ile Single submitter ⚠
p.Val333Met Single submitter ⚠
p.Val50Leu Single submitter ⚠