KCNK13 — 58 ClinVar variants
All ClinVar germline KCNK13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
4 Likely benign · 54 Uncertain significance
Full KCNK13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNK13 p.Ala179Val Uncertain significance Single submitter
- KCNK13 p.Ala2Thr Uncertain significance Single submitter
- KCNK13 p.Ala354Ser Uncertain significance Single submitter
- KCNK13 p.Arg310Cys Uncertain significance Single submitter
- KCNK13 p.Arg310His Uncertain significance Single submitter
- KCNK13 p.Arg320Trp Uncertain significance Single submitter
- KCNK13 p.Arg340Cys Uncertain significance Single submitter
- KCNK13 p.Arg340His Uncertain significance Single submitter
- KCNK13 p.Arg341Gln Uncertain significance Single submitter
- KCNK13 p.Arg383Trp Uncertain significance Single submitter
- KCNK13 p.Arg68Ser Uncertain significance Single submitter
- KCNK13 p.Arg94Leu Uncertain significance Single submitter
- KCNK13 p.Asn356Asp Uncertain significance Single submitter
- KCNK13 p.Asn399Lys Uncertain significance Single submitter
- KCNK13 p.Asn399Ser Uncertain significance Single submitter
- KCNK13 p.Asp330Gly Uncertain significance Single submitter
- KCNK13 p.Cys182Arg Uncertain significance Single submitter
- KCNK13 p.Cys210Tyr Uncertain significance Single submitter
- KCNK13 p.Gln164His Uncertain significance Single submitter
- KCNK13 p.Glu334Gln Uncertain significance Single submitter
- KCNK13 p.Gly389Arg Uncertain significance Single submitter
- KCNK13 p.Gly5Val Uncertain significance Single submitter
- KCNK13 p.Gly85Ser Uncertain significance Single submitter
- KCNK13 p.His250Arg Uncertain significance Single submitter
- KCNK13 p.Ile156Val Uncertain significance Single submitter
- KCNK13 p.Ile219Phe Uncertain significance Single submitter
- KCNK13 p.Ile86Met Uncertain significance Single submitter
- KCNK13 p.Leu266His Uncertain significance Single submitter
- KCNK13 p.Leu266Phe Uncertain significance Single submitter
- KCNK13 p.Leu266Pro Uncertain significance Single submitter
- KCNK13 p.Leu26Val Uncertain significance Single submitter
- KCNK13 p.Leu306Arg Uncertain significance Single submitter
- KCNK13 p.Lys357Arg Uncertain significance Single submitter
- KCNK13 p.Pro300Leu Uncertain significance Single submitter
- KCNK13 p.Ser159Leu Uncertain significance Single submitter
- KCNK13 p.Ser7Asn Uncertain significance Single submitter
- KCNK13 p.Thr337Met Uncertain significance Single submitter
- KCNK13 p.Thr380Ala Uncertain significance Single submitter
- KCNK13 p.Tyr102Ser Uncertain significance Single submitter
- KCNK13 p.Val121Ile Uncertain significance Single submitter
- KCNK13 p.Val28Met Uncertain significance Single submitter
- KCNK13 p.Val332Met Uncertain significance Single submitter
- KCNK13 p.Val91Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- KCNK13 p.Arg52Pro Uncertain significance Single submitter
- KCNK13 p.Arg72Cys Uncertain significance Single submitter
- KCNK13 p.Asn17Asp Uncertain significance Single submitter
- KCNK13 p.Asn17Ser Uncertain significance Single submitter
- KCNK13 p.Glu46Asp Uncertain significance Single submitter
- KCNK13 p.Gly131Val Uncertain significance Single submitter
- KCNK13 p.Phe97Leu Uncertain significance Single submitter
- KCNK13 p.Trp53Cys Uncertain significance Single submitter
All KCNK13 variants
Likely benign 4
- p.Ala382Ser Single submitter
- p.Gly5= Single submitter
- p.Gly63Arg Single submitter
- p.Leu132Phe Single submitter
Uncertain significance 54
- p.Ala179Val Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala354Ser Single submitter ⚠
- p.Arg310Cys Single submitter ⚠
- p.Arg310His Single submitter ⚠
- p.Arg320Trp Single submitter ⚠
- p.Arg340Cys Single submitter ⚠
- p.Arg340His Single submitter ⚠
- p.Arg341Gln Single submitter ⚠
- p.Arg383Trp Single submitter ⚠
- p.Arg400Trp Single submitter
- p.Arg52Pro Single submitter ⚠
- p.Arg68Ser Single submitter ⚠
- p.Arg72Cys Single submitter ⚠
- p.Arg94Leu Single submitter ⚠
- p.Asn17Asp Single submitter ⚠
- p.Asn17Ser Single submitter ⚠
- p.Asn356Asp Single submitter ⚠
- p.Asn399Lys Single submitter ⚠
- p.Asn399Ser Single submitter ⚠
- p.Asp330Gly Single submitter ⚠
- p.Cys182Arg Single submitter ⚠
- p.Cys210Tyr Single submitter ⚠
- p.Gln164His Single submitter ⚠
- p.Glu334Gln Single submitter ⚠
- p.Glu403Lys Single submitter
- p.Glu46Asp Single submitter ⚠
- p.Gly131Val Single submitter ⚠
- p.Gly389Arg Single submitter ⚠
- p.Gly390Trp Single submitter
- p.Gly5Val Single submitter ⚠
- p.Gly85Ser Single submitter ⚠
- p.His250Arg Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile219Phe Single submitter ⚠
- p.Ile86Met Single submitter ⚠
- p.Leu266His Single submitter ⚠
- p.Leu266Phe Single submitter ⚠
- p.Leu266Pro Single submitter ⚠
- p.Leu26Val Single submitter ⚠
- p.Leu306Arg Single submitter ⚠
- p.Lys357Arg Single submitter ⚠
- p.Phe97Leu Single submitter ⚠
- p.Pro300Leu Single submitter ⚠
- p.Ser159Leu Single submitter ⚠
- p.Ser7Asn Single submitter ⚠
- p.Thr337Met Single submitter ⚠
- p.Thr380Ala Single submitter ⚠
- p.Trp53Cys Single submitter ⚠
- p.Tyr102Ser Single submitter ⚠
- p.Val121Ile Single submitter ⚠
- p.Val28Met Single submitter ⚠
- p.Val332Met Single submitter ⚠
- p.Val91Ile Single submitter ⚠