Sugi Variant

Sugi Variant/ETV6

ETV6 — 903 ClinVar variants

All ClinVar germline ETV6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 424 flagged for review →

26 Pathogenic · 8 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 52 Conflicting · 39 Benign · 16 Benign/Likely benign · 293 Likely benign · 442 Uncertain significance

Full ETV6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 424

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 2

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

Predictors agree, ClinVar conflicts 34

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

Predicted LoF vs a conflicting call 1

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 311

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 311

Predictors split 76

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

All ETV6 variants

Pathogenic 26

Pathogenic/Likely pathogenic 8

Likely pathogenic 27

Conflicting classifications of pathogenicity 52

Benign 39

Benign/Likely benign 16

  • c.1009+19C>T Multiple submitters
  • c.164-17C>T Multiple submitters
  • c.34-7T>C Multiple submitters
  • c.464-3C>T Multiple submitters Inborn genetic diseases
  • p.Ala40Val Multiple submitters Inborn genetic diseases
  • p.Asp295= Multiple submitters Inborn genetic diseases
  • p.Glu241= Multiple submitters Inborn genetic diseases
  • p.Leu201Pro Multiple submitters Inborn genetic diseases
  • p.Pro19= Multiple submitters Inborn genetic diseases
  • p.Pro214= Multiple submitters Inborn genetic diseases
  • p.Pro255= Multiple submitters Inborn genetic diseases
  • p.Ser428= Multiple submitters Inborn genetic diseases
  • p.Thr142= Multiple submitters Inborn genetic diseases
  • p.Thr86= Multiple submitters Inborn genetic diseases
  • p.Val166Met Multiple submitters Inborn genetic diseases
  • p.Val24= Multiple submitters Inborn genetic diseases

Likely benign 293

Uncertain significance 442

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