Sugi Variant

Sugi Variant/ARMC9

ARMC9 — 740 ClinVar variants

All ClinVar germline ARMC9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 300 flagged for review →

15 Pathogenic · 12 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 18 Conflicting · 37 Benign · 18 Benign/Likely benign · 274 Likely benign · 337 Uncertain significance

Full ARMC9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 300

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 236

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 236

Predictors split 54

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

All ARMC9 variants

Pathogenic 15

Pathogenic/Likely pathogenic 12

  • p.Arg299Ter Multiple submitters ARMC9-related disorder
  • p.Arg343Cys Multiple submitters ARMC9-related disorder
  • p.Arg87Ter Multiple submitters ARMC9-related disorder
  • p.Gln519fs Multiple submitters ARMC9-related disorder
  • p.Met495fs Multiple submitters Joubert syndrome 30
  • p.Pro263fs Multiple submitters Joubert syndrome 30
  • p.Ser55fs Multiple submitters ARMC9-related disorder
  • p.Thr293= Multiple submitters Joubert syndrome 30
  • p.Val506fs Multiple submitters ARMC9-related disorder
  • c.1474+1G>C No assertion criteria Joubert syndrome 30
  • p.Arg446Cys No assertion criteria Joubert syndrome 30
  • p.Pro520Leu No assertion criteria Joubert syndrome 30 ⚠

Likely pathogenic 29

Conflicting classifications of pathogenicity 18

Benign 37

Benign/Likely benign 18

Likely benign 274

Uncertain significance 337

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