Sugi Variant

Sugi Variant/KLHL40

KLHL40 — 584 ClinVar variants

All ClinVar germline KLHL40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 283 flagged for review →

27 Pathogenic · 4 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 16 Conflicting · 21 Benign · 7 Benign/Likely benign · 186 Likely benign · 308 Uncertain significance

Full KLHL40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 283

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 11

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

Predictors lean, ClinVar uncertain 206

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 206

Predictors split 66

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

All KLHL40 variants

Pathogenic 27

Pathogenic/Likely pathogenic 4

Likely pathogenic 15

Conflicting classifications of pathogenicity 16

Benign 21

Benign/Likely benign 7

  • c.1313+7A>G Multiple submitters nemaline myopathy 8
  • c.1314-12C>T Multiple submitters nemaline myopathy 8
  • p.Ala149= Multiple submitters nemaline myopathy 8
  • p.Ala216= Multiple submitters nemaline myopathy 8
  • p.Glu93Gln Multiple submitters nemaline myopathy 8
  • p.Leu609= Multiple submitters nemaline myopathy 8
  • p.Val514Met Multiple submitters nemaline myopathy 8

Likely benign 186

Uncertain significance 308

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