KCNMB1 — 36 ClinVar variants
All ClinVar germline KCNMB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
2 Benign · 3 Likely benign · 31 Uncertain significance
Full KCNMB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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.
- KCNMB1 p.Ala138Glu Uncertain significance Single submitter
- KCNMB1 p.Ala138Val Uncertain significance Single submitter
- KCNMB1 p.Arg117Gln Uncertain significance Single submitter
- KCNMB1 p.Arg150His Uncertain significance Single submitter
- KCNMB1 p.Arg97Gln Uncertain significance Single submitter
- KCNMB1 p.Asn100Ser Uncertain significance Single submitter
-
KCNMB1 p.Asp119Asn
Uncertain significance
Single submitter
HYPERTENSION, DIASTOLIC, RESISTANCE TO
- KCNMB1 p.Gln131His Uncertain significance Single submitter
- KCNMB1 p.Gly153Arg Uncertain significance Single submitter
- KCNMB1 p.Gly68Ser Uncertain significance Single submitter
- KCNMB1 p.Ile56Thr Uncertain significance Single submitter
- KCNMB1 p.Leu184Met Uncertain significance Single submitter
- KCNMB1 p.Leu5Met Uncertain significance Single submitter
- KCNMB1 p.Lys52Glu Uncertain significance Single submitter
- KCNMB1 p.Phe127Ile Uncertain significance Single submitter
- KCNMB1 p.Ser145Asn Uncertain significance Single submitter
- KCNMB1 p.Thr14Ser Uncertain significance Single submitter
- KCNMB1 p.Thr169Asn Uncertain significance Single submitter
- KCNMB1 p.Thr36Met Uncertain significance Single submitter
- KCNMB1 p.Trp78Arg Uncertain significance Single submitter
- KCNMB1 p.Tyr113Asp Uncertain significance Single submitter
- KCNMB1 p.Tyr32His Uncertain significance Single submitter
- KCNMB1 p.Val28Ile Uncertain significance Single submitter
- KCNMB1 p.Val46Met Uncertain significance Single submitter
- KCNMB1 p.Val71Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- KCNMB1 p.Ala176Asp Uncertain significance Single submitter
- KCNMB1 p.Pro107Leu Uncertain significance Single submitter
- KCNMB1 p.Ser160Cys Uncertain significance Single submitter
- KCNMB1 p.Thr93Met Uncertain significance Single submitter
- KCNMB1 p.Val146Ile Uncertain significance Single submitter
- KCNMB1 p.Val81Leu Uncertain significance Single submitter
All KCNMB1 variants
Benign 2
- p.Cys18= Single submitter
- p.Arg140Trp No assertion criteria KCNMB1-related disorder
Likely benign 3
- p.Ser45= Single submitter
- p.Thr115Met Single submitter
- p.Asn80= No assertion criteria KCNMB1-related disorder
Uncertain significance 31
- p.Ala138Glu Single submitter ⚠
- p.Ala138Val Single submitter ⚠
- p.Ala176Asp Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg150His Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Asn100Ser Single submitter ⚠
- p.Asp119Asn Single submitter HYPERTENSION, DIASTOLIC, RESISTANCE TO ⚠
- p.Gln131His Single submitter ⚠
- p.Gly153Arg Single submitter ⚠
- p.Gly68Ser Single submitter ⚠
- p.Ile56Thr Single submitter ⚠
- p.Leu184Met Single submitter ⚠
- p.Leu5Met Single submitter ⚠
- p.Lys52Glu Single submitter ⚠
- p.Phe127Ile Single submitter ⚠
- p.Pro107Leu Single submitter ⚠
- p.Ser145Asn Single submitter ⚠
- p.Ser160Cys Single submitter ⚠
- p.Thr14Ser Single submitter ⚠
- p.Thr169Asn Single submitter ⚠
- p.Thr36Met Single submitter ⚠
- p.Thr93Met Single submitter ⚠
- p.Trp78Arg Single submitter ⚠
- p.Tyr113Asp Single submitter ⚠
- p.Tyr32His Single submitter ⚠
- p.Val146Ile Single submitter ⚠
- p.Val28Ile Single submitter ⚠
- p.Val46Met Single submitter ⚠
- p.Val71Leu Single submitter ⚠
- p.Val81Leu Single submitter ⚠