Sugi Variant

Sugi Variant/SH3BP2

SH3BP2 — 836 ClinVar variants

All ClinVar germline SH3BP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 356 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 46 Conflicting · 111 Benign · 33 Benign/Likely benign · 254 Likely benign · 383 Uncertain significance

Full SH3BP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 356

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 30

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

Predictors lean, ClinVar uncertain 251

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 251

Predictors split 75

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

All SH3BP2 variants

Pathogenic 4

Pathogenic/Likely pathogenic 3

Likely pathogenic 2

Conflicting classifications of pathogenicity 46

Benign 111

Benign/Likely benign 33

Likely benign 254

Uncertain significance 383

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