Sugi Variant

Sugi Variant/EXOSC9

EXOSC9 — 329 ClinVar variants

All ClinVar germline EXOSC9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

21 Pathogenic · 4 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 2 Conflicting · 31 Benign · 1 Benign/Likely benign · 113 Likely benign · 150 Uncertain significance

Full EXOSC9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 129

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 lean, ClinVar uncertain 100

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

Predictors split 29

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

All EXOSC9 variants

Pathogenic 21

Pathogenic/Likely pathogenic 4

  • p.Arg161Ter Multiple submitters pontocerebellar hypoplasia, type 1D
  • p.Arg229Ter Multiple submitters pontocerebellar hypoplasia, type 1D
  • p.Leu14Pro Multiple submitters Cerebral atrophy
  • p.Ser7Ter Multiple submitters pontocerebellar hypoplasia, type 1D

Likely pathogenic 7

Conflicting classifications of pathogenicity 2

Benign 31

Benign/Likely benign 1

Likely benign 113

Uncertain significance 150