Sugi Variant

Sugi Variant/KCNJ5

KCNJ5 — 501 ClinVar variants

All ClinVar germline KCNJ5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 234 flagged for review →

5 Pathogenic · 2 Likely pathogenic · 36 Conflicting · 35 Benign · 23 Benign/Likely benign · 131 Likely benign · 269 Uncertain significance

Full KCNJ5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 234

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 agree, ClinVar conflicts 26

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 171

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 171

Predictors split 37

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

All KCNJ5 variants

Pathogenic 5

  • p.Gly151Arg Multiple submitters Cardiovascular phenotype
  • p.Gly151Glu Single submitter long QT syndrome
  • p.Glu246Lys No assertion criteria familial hyperaldosteronism type III
  • p.Ile157Ser No assertion criteria familial hyperaldosteronism type III
  • p.Thr158Ala No assertion criteria Aldosterone-producing adrenal adenoma, somatic

Likely pathogenic 2

Conflicting classifications of pathogenicity 36

Benign 35

Benign/Likely benign 23

  • c.938-11C>T Multiple submitters long QT syndrome
  • c.*1091G>A Multiple submitters familial hyperaldosteronism type III
  • c.*34G>T Multiple submitters familial hyperaldosteronism type III
  • c.*759C>T Multiple submitters familial hyperaldosteronism type III
  • c.*936C>T Multiple submitters familial hyperaldosteronism type III
  • p.Ala197= Multiple submitters long QT syndrome
  • p.Arg319= Multiple submitters Cardiovascular phenotype
  • p.Arg41Cys Multiple submitters Cardiovascular phenotype
  • p.Arg41His Multiple submitters Cardiovascular phenotype
  • p.Glu246= Multiple submitters long QT syndrome 13
  • p.Glu248= Multiple submitters Cardiovascular phenotype
  • p.Glu279= Multiple submitters Cardiovascular phenotype
  • p.Gly387Arg Multiple submitters Cardiovascular phenotype
  • p.His64= Multiple submitters long QT syndrome
  • p.Ile229= Multiple submitters Cardiovascular phenotype
  • p.Ile275= Multiple submitters Cardiovascular phenotype
  • p.Leu91= Multiple submitters long QT syndrome
  • p.Lys48= Multiple submitters Cardiovascular phenotype
  • p.Phe104= Multiple submitters long QT syndrome
  • p.Pro383= Multiple submitters Cardiovascular phenotype
  • p.Ser138= Multiple submitters Cardiovascular phenotype
  • p.Ser418= Multiple submitters long QT syndrome
  • p.Val302= Multiple submitters familial hyperaldosteronism type III

Likely benign 131

  • c.938-11_938-10delinsTA Multiple submitters long QT syndrome
  • c.938-4C>T Multiple submitters long QT syndrome
  • c.-10-81C>T Multiple submitters
  • p.Ala206= Multiple submitters long QT syndrome
  • p.Ala398= Multiple submitters long QT syndrome
  • p.Ala44= Multiple submitters Cardiovascular phenotype
  • p.Arg30= Multiple submitters Cardiovascular phenotype
  • p.Arg413= Multiple submitters Cardiovascular phenotype
  • p.Asn205= Multiple submitters long QT syndrome
  • p.Asn258= Multiple submitters Cardiovascular phenotype
  • p.Asn281= Multiple submitters long QT syndrome
  • p.Asn401Lys Multiple submitters Cardiovascular phenotype
  • p.Asn61= Multiple submitters Cardiovascular phenotype
  • p.Asn66= Multiple submitters Cardiovascular phenotype
  • p.Asp117= Multiple submitters Cardiovascular phenotype
  • p.Asp212= Multiple submitters Cardiovascular phenotype
  • p.Asp265= Multiple submitters long QT syndrome
  • p.Gln400= Multiple submitters long QT syndrome
  • p.Glu366= Multiple submitters Cardiovascular phenotype
  • p.Gly122= Multiple submitters Cardiovascular phenotype
  • p.Gly164= Multiple submitters Cardiovascular phenotype
  • p.Gly222= Multiple submitters long QT syndrome
  • p.Gly247= Multiple submitters Cardiovascular phenotype
  • p.Gly3= Multiple submitters long QT syndrome
  • p.Gly330= Multiple submitters long QT syndrome
  • p.Gly342= Multiple submitters Cardiovascular phenotype
  • p.Gly410= Multiple submitters Cardiovascular phenotype
  • p.Ile250= Multiple submitters Cardiovascular phenotype
  • p.Leu110= Multiple submitters long QT syndrome
  • p.Leu167= Multiple submitters Cardiovascular phenotype
  • p.Leu270= Multiple submitters long QT syndrome
  • p.Leu385= Multiple submitters Cardiovascular phenotype
  • p.Leu386= Multiple submitters Cardiovascular phenotype
  • p.Met210Ile Multiple submitters Cardiovascular phenotype
  • p.Phe136= Multiple submitters Cardiovascular phenotype
  • p.Pro406= Multiple submitters Cardiovascular phenotype
  • p.Ser227= Multiple submitters long QT syndrome
  • p.Thr146= Multiple submitters familial hyperaldosteronism type III
  • p.Thr149= Multiple submitters Cardiovascular phenotype
  • p.Thr244= Multiple submitters Cardiovascular phenotype
  • p.Thr263= Multiple submitters Cardiovascular phenotype
  • p.Thr40= Multiple submitters Cardiovascular phenotype
  • p.Tyr32= Multiple submitters Cardiovascular phenotype
  • p.Tyr344= Multiple submitters Cardiovascular phenotype
  • p.Tyr379= Multiple submitters Cardiovascular phenotype
  • p.Val230= Multiple submitters long QT syndrome
  • p.Val99= Multiple submitters long QT syndrome
  • c.937+8G>A Single submitter long QT syndrome
  • c.937+9C>T Single submitter long QT syndrome
  • c.938-13T>G Single submitter long QT syndrome
  • c.938-164GATG[14] Single submitter
  • c.938-20T>C Single submitter long QT syndrome
  • c.938-210TGGA[7] Single submitter
  • c.-11+14T>C Single submitter
  • c.-293GA[3] Single submitter
  • c.-293GA[5] Single submitter
  • c.*449A>T Single submitter familial hyperaldosteronism type III
  • c.*861GTTTT[6] Single submitter
  • p.Ala112= Single submitter Cardiovascular phenotype
  • p.Ala29= Single submitter Cardiovascular phenotype
  • p.Ala390= Single submitter Cardiovascular phenotype
  • p.Ala415= Single submitter long QT syndrome
  • p.Arg211= Single submitter Cardiovascular phenotype
  • p.Arg235= Single submitter Cardiovascular phenotype
  • p.Arg372= Single submitter Cardiovascular phenotype
  • p.Arg39Cys Single submitter Cardiovascular phenotype
  • p.Arg41= Single submitter long QT syndrome
  • p.Arg416= Single submitter long QT syndrome
  • p.Arg72= Single submitter Cardiovascular phenotype
  • p.Asn253= Single submitter Cardiovascular phenotype
  • p.Asp256= Single submitter Cardiovascular phenotype
  • p.Asp353= Single submitter Cardiovascular phenotype
  • p.Cys216= Single submitter Cardiovascular phenotype
  • p.Gln68= Single submitter long QT syndrome
  • p.Glu300= Single submitter Cardiovascular phenotype
  • p.Glu356= Single submitter Cardiovascular phenotype
  • p.Glu399= Single submitter Cardiovascular phenotype
  • p.Gly116= Single submitter
  • p.Gly135= Single submitter long QT syndrome
  • p.Gly151= Single submitter Cardiovascular phenotype
  • p.Gly153= Single submitter Cardiovascular phenotype
  • p.Gly264= Single submitter Cardiovascular phenotype
  • p.Gly387= Single submitter long QT syndrome
  • p.Gly417= Single submitter Cardiovascular phenotype
  • p.Gly46= Single submitter Cardiovascular phenotype
  • p.His352= Single submitter Cardiovascular phenotype
  • p.His63= Single submitter Cardiovascular phenotype
  • p.Ile114= Single submitter long QT syndrome
  • p.Ile127= Single submitter long QT syndrome
  • p.Ile150= Single submitter Cardiovascular phenotype
  • p.Ile177= Single submitter
  • p.Ile257= Single submitter Cardiovascular phenotype
  • p.Ile276= Single submitter long QT syndrome
  • p.Ile280= Single submitter Cardiovascular phenotype
  • p.Leu133= Single submitter long QT syndrome
  • p.Leu141= Single submitter long QT syndrome
  • p.Leu215= Single submitter Cardiovascular phenotype
  • p.Leu294= Single submitter long QT syndrome
  • p.Leu367= Single submitter
  • p.Leu380= Single submitter Cardiovascular phenotype
  • p.Lys245= Single submitter Cardiovascular phenotype
  • p.Lys283= Single submitter long QT syndrome
  • p.Phe154= Single submitter Cardiovascular phenotype
  • p.Phe261= Single submitter Cardiovascular phenotype
  • p.Phe78= Single submitter long QT syndrome
  • p.Pro251= Single submitter long QT syndrome
  • p.Pro285= Single submitter long QT syndrome
  • p.Pro384= Single submitter Cardiovascular phenotype
  • p.Ser134= Single submitter Cardiovascular phenotype
  • p.Ser209= Single submitter Cardiovascular phenotype
  • p.Ser241= Single submitter Cardiovascular phenotype
  • p.Ser321= Single submitter long QT syndrome
  • p.Ser382= Single submitter Cardiovascular phenotype
  • p.Thr199= Single submitter long QT syndrome
  • p.Thr255= Single submitter Cardiovascular phenotype
  • p.Thr334= Single submitter Cardiovascular phenotype
  • p.Thr354= Single submitter long QT syndrome
  • p.Thr357= Single submitter long QT syndrome
  • p.Thr359= Single submitter Cardiovascular phenotype
  • p.Thr70= Single submitter long QT syndrome
  • p.Thr80= Single submitter Cardiovascular phenotype
  • p.Tyr152= Single submitter Cardiovascular phenotype
  • p.Tyr322= Single submitter long QT syndrome
  • p.Tyr32Ter Single submitter long QT syndrome
  • p.Val137= Single submitter long QT syndrome
  • p.Val207= Single submitter Cardiovascular phenotype
  • p.Val221= Single submitter long QT syndrome
  • p.Val271= Single submitter long QT syndrome
  • p.Val62= Single submitter Cardiovascular phenotype
  • p.Val82= Single submitter long QT syndrome
  • p.Val92= Single submitter long QT syndrome

Uncertain significance 269