Sugi Variant

Sugi Variant/RUSC2

RUSC2 — 991 ClinVar variants

All ClinVar germline RUSC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 506 flagged for review →

33 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 11 Conflicting · 12 Benign · 14 Benign/Likely benign · 383 Likely benign · 530 Uncertain significance

Full RUSC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 506

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 430

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 430

Predictors split 66

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

All RUSC2 variants

Pathogenic 33

Pathogenic/Likely pathogenic 1

  • p.Arg1393Ter Multiple submitters intellectual disability, autosomal recessive 61

Likely pathogenic 7

Conflicting classifications of pathogenicity 11

Benign 12

Benign/Likely benign 14

Likely benign 383

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

Uncertain significance 530

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