Sugi Variant

Sugi Variant/STK36

STK36 — 302 ClinVar variants

All ClinVar germline STK36 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 175 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 3 Conflicting · 43 Benign · 7 Benign/Likely benign · 59 Likely benign · 186 Uncertain significance

Full STK36 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 175

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 3

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

Predictors lean, ClinVar uncertain 138

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

Predictors split 34

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

All STK36 variants

Pathogenic 1

  • p.Glu467fs No assertion criteria ciliary dyskinesia, primary, 46

Likely pathogenic 3

  • c.2248-2A>C Single submitter spermatogenic failure 18
  • c.2761+1G>T Single submitter ciliary dyskinesia, primary, 46
  • p.Gln920fs Single submitter ciliary dyskinesia, primary, 46

Conflicting classifications of pathogenicity 3

Benign 43

Benign/Likely benign 7

Likely benign 59

Uncertain significance 186