Sugi Variant

Sugi Variant/KCNQ1

KCNQ1 — 2914 ClinVar variants

All ClinVar germline KCNQ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 775 flagged for review →

205 Pathogenic · 153 Pathogenic/Likely pathogenic · 168 Likely pathogenic · 211 Conflicting · 370 Benign · 82 Benign/Likely benign · 913 Likely benign · 812 Uncertain significance

Full KCNQ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 775

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 99

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

Predicted LoF vs a conflicting call 6

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 447

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 447

Predictors split 220

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 220

All KCNQ1 variants

Pathogenic 205

Pathogenic/Likely pathogenic 153

Likely pathogenic 168

Conflicting classifications of pathogenicity 211

Benign 370

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

Benign/Likely benign 82

Likely benign 913

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

Uncertain significance 812

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