Sugi Variant

Sugi Variant/SNRNP200

SNRNP200 — 1486 ClinVar variants

All ClinVar germline SNRNP200 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 576 flagged for review →

5 Pathogenic · 5 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 99 Conflicting · 20 Benign · 39 Benign/Likely benign · 650 Likely benign · 659 Uncertain significance

Full SNRNP200 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 576

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 1

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

Predictors agree, ClinVar conflicts 51

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

Predictors lean, ClinVar uncertain 394

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 394

Predictors split 130

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

All SNRNP200 variants

Pathogenic 5

Pathogenic/Likely pathogenic 5

  • p.Ala787Thr Multiple submitters SNRNP200-related disorder
  • p.Arg681Cys Multiple submitters retinitis pigmentosa
  • p.Arg681His Multiple submitters SNRNP200-related disorder
  • p.Pro682Ser Multiple submitters SNRNP200-related disorder
  • p.Tyr689Cys Multiple submitters SNRNP200-related disorder

Likely pathogenic 9

Conflicting classifications of pathogenicity 99

Benign 20

Benign/Likely benign 39

Likely benign 650

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

Uncertain significance 659

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