Sugi Variant

Sugi Variant/KCNJ2

KCNJ2 — 645 ClinVar variants

All ClinVar germline KCNJ2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 287 flagged for review →

39 Pathogenic · 6 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 65 Conflicting · 25 Benign · 22 Benign/Likely benign · 136 Likely benign · 332 Uncertain significance

Full KCNJ2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 287

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 30

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

Predictors lean, ClinVar uncertain 200

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 200

Predictors split 57

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

All KCNJ2 variants

Pathogenic 39

Pathogenic/Likely pathogenic 6

  • p.Arg218Trp Multiple submitters KCNJ2-related disorder
  • p.Arg312Cys Multiple submitters Andersen-Tawil syndrome
  • p.Arg312His Multiple submitters Cardiovascular phenotype
  • p.Arg67Gln Multiple submitters Andersen-Tawil syndrome
  • p.Met307Val Multiple submitters cardiac rhythm disease ⚠
  • p.Thr75Met Multiple submitters Andersen-Tawil syndrome

Likely pathogenic 20

Conflicting classifications of pathogenicity 65

Benign 25

Benign/Likely benign 22

  • c.-162_-161insGAGTAGT Multiple submitters short QT syndrome type 3
  • c.-163_-162insTC Multiple submitters short QT syndrome type 3
  • c.-2C>T Multiple submitters short QT syndrome type 3
  • c.*1350G>A Multiple submitters atrial fibrillation, familial, 9
  • c.*1596A>C Multiple submitters atrial fibrillation, familial, 9
  • p.Asn32= Multiple submitters Cardiovascular phenotype
  • p.Asp205= Multiple submitters Andersen-Tawil syndrome
  • p.Asp360= Multiple submitters Cardiovascular phenotype
  • p.Asp71= Multiple submitters Cardiovascular phenotype
  • p.Glu118Asp Multiple submitters Cardiovascular phenotype
  • p.His226= Multiple submitters Cardiovascular phenotype
  • p.His345= Multiple submitters Cardiovascular phenotype
  • p.Ile137= Multiple submitters Andersen-Tawil syndrome
  • p.Leu193= Multiple submitters Andersen-Tawil syndrome
  • p.Leu355= Multiple submitters Cardiovascular phenotype
  • p.Lys334= Multiple submitters Cardiovascular phenotype
  • p.Phe58= Multiple submitters Cardiovascular phenotype
  • p.Pro420Leu Multiple submitters Cardiovascular phenotype
  • p.Ser124= Multiple submitters Cardiovascular phenotype
  • p.Thr400= Multiple submitters Cardiovascular phenotype
  • p.Tyr348= Multiple submitters Cardiovascular phenotype
  • c.*1125G>A Single submitter atrial fibrillation, familial, 9

Likely benign 136

  • p.Ala107= Multiple submitters Cardiovascular phenotype
  • p.Ala199= Multiple submitters Cardiovascular phenotype
  • p.Ala229= Multiple submitters Andersen-Tawil syndrome
  • p.Arg44= Multiple submitters Andersen-Tawil syndrome
  • p.Arg46= Multiple submitters Cardiovascular phenotype
  • p.Arg8= Multiple submitters Cardiovascular phenotype
  • p.Asn190= Multiple submitters Andersen-Tawil syndrome
  • p.Asn352= Multiple submitters Andersen-Tawil syndrome
  • p.Asp17= Multiple submitters Cardiovascular phenotype
  • p.Asp276= Multiple submitters Cardiovascular phenotype
  • p.Asp286= Multiple submitters Cardiovascular phenotype
  • p.Asp288= Multiple submitters Cardiovascular phenotype
  • p.Asp388= Multiple submitters Cardiovascular phenotype
  • p.Asp405= Multiple submitters Andersen-Tawil syndrome
  • p.Cys122= Multiple submitters Andersen-Tawil syndrome
  • p.Cys89= Multiple submitters Cardiovascular phenotype
  • p.Gln411= Multiple submitters Cardiovascular phenotype
  • p.Glu15= Multiple submitters Cardiovascular phenotype
  • p.Glu16= Multiple submitters Cardiovascular phenotype
  • p.Glu241= Multiple submitters Andersen-Tawil syndrome
  • p.Gly144= Multiple submitters Cardiovascular phenotype
  • p.Gly2= Multiple submitters Cardiovascular phenotype
  • p.Gly393= Multiple submitters Cardiovascular phenotype
  • p.Gly62= Multiple submitters Cardiovascular phenotype
  • p.His409= Multiple submitters Cardiovascular phenotype
  • p.Ile11= Multiple submitters Andersen-Tawil syndrome
  • p.Ile166= Multiple submitters Cardiovascular phenotype
  • p.Ile171= Multiple submitters Cardiovascular phenotype
  • p.Ile250= Multiple submitters Cardiovascular phenotype
  • p.Ile258= Multiple submitters Andersen-Tawil syndrome
  • p.Ile294= Multiple submitters short QT syndrome type 3
  • p.Leu109= Multiple submitters Andersen-Tawil syndrome
  • p.Leu232= Multiple submitters Cardiovascular phenotype
  • p.Leu361= Multiple submitters short QT syndrome type 3
  • p.Leu368= Multiple submitters Cardiovascular phenotype
  • p.Leu416= Multiple submitters Andersen-Tawil syndrome
  • p.Leu69= Multiple submitters Cardiovascular phenotype
  • p.Leu94= Multiple submitters Cardiovascular phenotype
  • p.Lys20= Multiple submitters Cardiovascular phenotype
  • p.Lys64= Multiple submitters Cardiovascular phenotype
  • p.Phe195= Multiple submitters Cardiovascular phenotype
  • p.Phe73= Multiple submitters Cardiovascular phenotype
  • p.Phe92= Multiple submitters Cardiovascular phenotype
  • p.Pro328= Multiple submitters Cardiovascular phenotype
  • p.Ser265= Multiple submitters Cardiovascular phenotype
  • p.Ser283= Multiple submitters Cardiovascular phenotype
  • p.Thr130= Multiple submitters Cardiovascular phenotype
  • p.Thr139= Multiple submitters Cardiovascular phenotype
  • p.Thr142= Multiple submitters Cardiovascular phenotype
  • p.Thr151= Multiple submitters Cardiovascular phenotype
  • p.Thr308= Multiple submitters Andersen-Tawil syndrome
  • p.Thr74= Multiple submitters Andersen-Tawil syndrome
  • p.Thr75= Multiple submitters Andersen-Tawil syndrome
  • p.Tyr145= Multiple submitters Andersen-Tawil syndrome
  • p.Tyr315= Multiple submitters Cardiovascular phenotype
  • p.Val295= Multiple submitters Cardiovascular phenotype
  • p.Val93= Multiple submitters Cardiovascular phenotype
  • c.-210T>C Single submitter
  • c.-216-169G>C Single submitter
  • c.-216-7C>A Single submitter
  • c.-217+11C>T Single submitter
  • c.-235G>A Single submitter
  • c.*1717_*1721del Single submitter
  • c.*1721del Single submitter
  • c.*20G>T Single submitter
  • p.Ala225= Single submitter Andersen-Tawil syndrome
  • p.Ala25= Single submitter Andersen-Tawil syndrome
  • p.Ala27= Single submitter Andersen-Tawil syndrome
  • p.Ala362= Single submitter Andersen-Tawil syndrome
  • p.Arg228= Single submitter Andersen-Tawil syndrome
  • p.Arg40= Single submitter Andersen-Tawil syndrome
  • p.Arg419= Single submitter Cardiovascular phenotype
  • p.Arg423= Single submitter Andersen-Tawil syndrome
  • p.Arg67= Single submitter Cardiovascular phenotype
  • p.Arg82= Single submitter Andersen-Tawil syndrome
  • p.Asn216= Single submitter Andersen-Tawil syndrome
  • p.Asn55= Single submitter Cardiovascular phenotype
  • p.Asp51= Single submitter Andersen-Tawil syndrome
  • p.Asp78= Single submitter Andersen-Tawil syndrome
  • p.Cys375= Single submitter Andersen-Tawil syndrome
  • p.Gln230= Single submitter Andersen-Tawil syndrome
  • p.Gln42= Single submitter Andersen-Tawil syndrome
  • p.Glu153= Single submitter Andersen-Tawil syndrome
  • p.Glu333= Single submitter Andersen-Tawil syndrome
  • p.Gly111= Single submitter short QT syndrome type 3
  • p.Gly146= Single submitter Cardiovascular phenotype
  • p.Gly177= Single submitter Andersen-Tawil syndrome
  • p.Gly215= Single submitter Andersen-Tawil syndrome
  • p.Gly29= Single submitter Andersen-Tawil syndrome
  • p.Gly31= Single submitter Andersen-Tawil syndrome
  • p.Gly33= Single submitter Andersen-Tawil syndrome
  • p.His197= Single submitter short QT syndrome type 3
  • p.His335= Single submitter Andersen-Tawil syndrome
  • p.His38= Single submitter Cardiovascular phenotype
  • p.Ile143= Single submitter Cardiovascular phenotype
  • p.Ile170= Single submitter Andersen-Tawil syndrome
  • p.Ile243= Single submitter Andersen-Tawil syndrome
  • p.Leu108= Single submitter Andersen-Tawil syndrome
  • p.Leu134= Single submitter Andersen-Tawil syndrome
  • p.Leu208= Single submitter Andersen-Tawil syndrome
  • p.Leu245= Single submitter Andersen-Tawil syndrome
  • p.Leu263= Single submitter Andersen-Tawil syndrome
  • p.Lys188= Single submitter Andersen-Tawil syndrome
  • p.Lys233= Single submitter Andersen-Tawil syndrome
  • p.Lys34= Single submitter Andersen-Tawil syndrome
  • p.Phe129= Single submitter Andersen-Tawil syndrome
  • p.Phe147= Single submitter Cardiovascular phenotype
  • p.Phe159= Single submitter Andersen-Tawil syndrome
  • p.Phe163= Single submitter short QT syndrome type 3
  • p.Phe254= Single submitter Andersen-Tawil syndrome
  • p.Phe331= Single submitter Andersen-Tawil syndrome
  • p.Phe99= Single submitter Andersen-Tawil syndrome
  • p.Pro155= Single submitter Andersen-Tawil syndrome
  • p.Pro186= Single submitter Andersen-Tawil syndrome
  • p.Pro351= Single submitter short QT syndrome type 3
  • p.Pro395= Single submitter Cardiovascular phenotype
  • p.Pro403= Single submitter short QT syndrome type 3
  • p.Pro404= Single submitter Andersen-Tawil syndrome
  • p.Pro418= Single submitter Andersen-Tawil syndrome
  • p.Pro420= Single submitter Andersen-Tawil syndrome
  • p.Ser14= Single submitter Andersen-Tawil syndrome
  • p.Ser3= Single submitter Andersen-Tawil syndrome
  • p.Ser390= Single submitter Cardiovascular phenotype
  • p.Ser45= Single submitter Cardiovascular phenotype
  • p.Ser95= Single submitter Andersen-Tawil syndrome
  • p.Thr237= Single submitter Cardiovascular phenotype
  • p.Thr39= Single submitter
  • p.Thr402= Single submitter Cardiovascular phenotype
  • p.Thr6= Single submitter short QT syndrome type 3
  • p.Thr6Ser Single submitter Cardiovascular phenotype
  • p.Val102= Single submitter Andersen-Tawil syndrome
  • p.Val126= Single submitter Andersen-Tawil syndrome
  • p.Val264= Single submitter short QT syndrome type 3
  • p.Val270= Single submitter Andersen-Tawil syndrome
  • p.Val350= Single submitter Cardiovascular phenotype
  • p.Val380= Single submitter Cardiovascular phenotype

Uncertain significance 332

Showing the top 300 by review status; the full set is in the sitemap.