Sugi Variant

Sugi Variant/KBTBD13

KBTBD13 — 718 ClinVar variants

All ClinVar germline KBTBD13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 377 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 57 Conflicting · 31 Benign · 29 Benign/Likely benign · 142 Likely benign · 456 Uncertain significance

Full KBTBD13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 377

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 28

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

Predictors lean, ClinVar uncertain 239

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 239

Predictors split 109

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

All KBTBD13 variants

Pathogenic 1

Likely pathogenic 2

Conflicting classifications of pathogenicity 57

Benign 31

Benign/Likely benign 29

  • c.-13C>T Multiple submitters
  • c.*222G>A Multiple submitters nemaline myopathy 6
  • p.Ala55Thr Multiple submitters nemaline myopathy 6
  • p.Ala74= Multiple submitters nemaline myopathy 6
  • p.Arg146Ser Multiple submitters nemaline myopathy 6 ⚠
  • p.Asn373= Multiple submitters nemaline myopathy 6
  • p.Asp172= Multiple submitters nemaline myopathy 6
  • p.Asp172Glu Multiple submitters nemaline myopathy 6
  • p.Cys110Tyr Multiple submitters nemaline myopathy 6 ⚠
  • p.Gln63Leu Multiple submitters nemaline myopathy 6
  • p.Gly265= Multiple submitters nemaline myopathy 6
  • p.Gly265Asp Multiple submitters nemaline myopathy 6
  • p.Gly30Asp Multiple submitters nemaline myopathy 6
  • p.Gly359= Multiple submitters nemaline myopathy 6
  • p.Gly39= Multiple submitters nemaline myopathy 6
  • p.Gly39Arg Multiple submitters nemaline myopathy 6
  • p.Gly57= Multiple submitters nemaline myopathy 6
  • p.Leu72= Multiple submitters nemaline myopathy 6
  • p.Met409Thr Multiple submitters nemaline myopathy 6
  • p.Ser435= Multiple submitters nemaline myopathy 6
  • p.Thr251Ala Multiple submitters nemaline myopathy 6
  • p.Thr318= Multiple submitters nemaline myopathy 6
  • p.Thr327= Multiple submitters nemaline myopathy 6
  • p.Thr411Met Multiple submitters nemaline myopathy 6
  • p.Thr455Ala Multiple submitters nemaline myopathy 6
  • p.Tyr157= Multiple submitters nemaline myopathy 6
  • p.Val121Met Multiple submitters nemaline myopathy 6 ⚠
  • p.Val321= Multiple submitters nemaline myopathy 6
  • p.Val82= Multiple submitters nemaline myopathy 6

Likely benign 142

Uncertain significance 456

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