Sugi Variant

Sugi Variant/ESCO2

ESCO2 — 739 ClinVar variants

All ClinVar germline ESCO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →

75 Pathogenic · 22 Pathogenic/Likely pathogenic · 45 Likely pathogenic · 21 Conflicting · 42 Benign · 10 Benign/Likely benign · 306 Likely benign · 218 Uncertain significance

Full ESCO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 180

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 10

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

Predictors lean, ClinVar uncertain 157

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 157

Predictors split 13

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

All ESCO2 variants

Pathogenic 75

Pathogenic/Likely pathogenic 22

  • c.1132-7A>G Multiple submitters ESCO2-Related Disorders
  • c.955+2_955+5del Multiple submitters Roberts-SC phocomelia syndrome
  • p.Arg552Ter Multiple submitters Juberg-Hayward syndrome
  • p.Asn164fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Asn304fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Asn39_Ser40insTer Multiple submitters Roberts-SC phocomelia syndrome
  • p.Asn66fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Gln409Ter Multiple submitters Roberts-SC phocomelia syndrome
  • p.Gln466Ter Multiple submitters Roberts-SC phocomelia syndrome
  • p.Glu104_Ser105insTer Multiple submitters Juberg-Hayward syndrome
  • p.Glu298fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Leu14Ter Multiple submitters Roberts-SC phocomelia syndrome
  • p.Leu26fs Multiple submitters Juberg-Hayward syndrome
  • p.Leu480fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Leu492fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Lys282fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Ser184Ter Multiple submitters Roberts-SC phocomelia syndrome
  • p.Ser217fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Thr371fs Multiple submitters Roberts-SC phocomelia syndrome
  • p.Thr478fs Multiple submitters Juberg-Hayward syndrome
  • p.Trp423Ter Multiple submitters Roberts-SC phocomelia syndrome
  • p.Val213fs Multiple submitters Roberts-SC phocomelia syndrome

Likely pathogenic 45

Conflicting classifications of pathogenicity 21

Benign 42

Benign/Likely benign 10

  • c.*34G>A Multiple submitters Roberts-SC phocomelia syndrome
  • p.Arg169Gln Multiple submitters
  • p.Arg365Lys Multiple submitters Roberts-SC phocomelia syndrome
  • p.Cys49Trp Multiple submitters Roberts-SC phocomelia syndrome
  • p.Gln359Pro Multiple submitters Roberts-SC phocomelia syndrome
  • p.Ile549= Multiple submitters Roberts-SC phocomelia syndrome
  • p.Leu274Val Multiple submitters Roberts-SC phocomelia syndrome
  • p.Phe255Ser Multiple submitters Roberts-SC phocomelia syndrome
  • p.Ser289= Multiple submitters Roberts-SC phocomelia syndrome
  • p.Thr516= Multiple submitters Roberts-SC phocomelia syndrome

Likely benign 306

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

Uncertain significance 218