Sugi Variant

Sugi Variant/KCNJ1

KCNJ1 — 347 ClinVar variants

All ClinVar germline KCNJ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →

26 Pathogenic · 14 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 18 Conflicting · 8 Benign · 5 Benign/Likely benign · 94 Likely benign · 147 Uncertain significance

Full KCNJ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 151

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 88

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 52

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

All KCNJ1 variants

Pathogenic 26

Pathogenic/Likely pathogenic 14

Likely pathogenic 35

Conflicting classifications of pathogenicity 18

Benign 8

Benign/Likely benign 5

Likely benign 94

Uncertain significance 147