KCNAB1 — 29 ClinVar variants
All ClinVar germline KCNAB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
4 Benign · 1 Likely benign · 24 Uncertain significance
Full KCNAB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNAB1 p.Ala128Ser Uncertain significance Single submitter
- KCNAB1 p.Ala147Thr Uncertain significance Single submitter
- KCNAB1 p.Ala361Val Uncertain significance Single submitter
- KCNAB1 p.Arg328Lys Uncertain significance Single submitter
- KCNAB1 p.Arg408Cys Uncertain significance Single submitter
- KCNAB1 p.Asp118Glu Uncertain significance Single submitter
- KCNAB1 p.Glu380Asp Uncertain significance Single submitter
- KCNAB1 p.Gly308Arg Uncertain significance Single submitter
- KCNAB1 p.Ile347Val Uncertain significance Single submitter
- KCNAB1 p.Ser331Arg Uncertain significance Single submitter
- KCNAB1 p.Ser413Thr Uncertain significance Single submitter
- KCNAB1 p.Val330Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- KCNAB1 p.Arg350His Uncertain significance Single submitter
- KCNAB1 p.Cys264Ser Uncertain significance Single submitter
- KCNAB1 p.Glu130Gln Uncertain significance Single submitter
- KCNAB1 p.Glu380Gln Uncertain significance Single submitter
- KCNAB1 p.Leu344Phe Uncertain significance Single submitter
- KCNAB1 p.Lys287Arg Uncertain significance Single submitter
- KCNAB1 p.Met259Ile Uncertain significance Single submitter
- KCNAB1 p.Pro212Leu Uncertain significance Single submitter
- KCNAB1 p.Pro379Arg Uncertain significance Single submitter
- KCNAB1 p.Thr216Ser Uncertain significance Single submitter
- KCNAB1 p.Val120Phe Uncertain significance Single submitter
All KCNAB1 variants
Benign 4
- p.Ala29Pro Multiple submitters
- p.Gly305= Multiple submitters
- p.Gly30Arg Multiple submitters
- p.Ser79= Multiple submitters
Likely benign 1
- p.Ser34Cys Multiple submitters
Uncertain significance 24
- p.Ala128Ser Single submitter ⚠
- p.Ala147Thr Single submitter ⚠
- p.Ala361Val Single submitter ⚠
- p.Arg328Lys Single submitter ⚠
- p.Arg350His Single submitter ⚠
- p.Arg408Cys Single submitter ⚠
- p.Asp118Glu Single submitter ⚠
- p.Cys264Ser Single submitter ⚠
- p.Glu130Gln Single submitter ⚠
- p.Glu130Gly Single submitter
- p.Glu380Asp Single submitter ⚠
- p.Glu380Gln Single submitter ⚠
- p.Gly308Arg Single submitter ⚠
- p.Ile347Val Single submitter ⚠
- p.Leu344Phe Single submitter ⚠
- p.Lys287Arg Single submitter ⚠
- p.Met259Ile Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro379Arg Single submitter ⚠
- p.Ser331Arg Single submitter ⚠
- p.Ser413Thr Single submitter ⚠
- p.Thr216Ser Single submitter ⚠
- p.Val120Phe Single submitter ⚠
- p.Val330Leu Single submitter ⚠