Sugi Variant

Sugi Variant/KCNK18

KCNK18 — 102 ClinVar variants

All ClinVar germline KCNK18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 7 Benign · 3 Benign/Likely benign · 27 Likely benign · 59 Uncertain significance

Full KCNK18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 56

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 1

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 50

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

Predictors split 4

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

All KCNK18 variants

Pathogenic 2

  • p.Arg167Ter Single submitter KCNK18-related neurodevelopmental disorder
  • p.Tyr163Asp Single submitter migraine, with or without aura, susceptibility to, 13

Likely pathogenic 1

Conflicting classifications of pathogenicity 3

  • p.Leu20Val Single submitter ⚠
  • p.Phe139fs Single submitter vascular parkinsonism
  • p.Tyr121fs Single submitter migraine, with or without aura, susceptibility to, 13

Benign 7

Benign/Likely benign 3

Likely benign 27

Uncertain significance 59