Sugi Variant

Sugi Variant/SPTB

SPTB — 1704 ClinVar variants

All ClinVar germline SPTB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 613 flagged for review →

207 Pathogenic · 52 Pathogenic/Likely pathogenic · 291 Likely pathogenic · 89 Conflicting · 43 Benign · 86 Benign/Likely benign · 215 Likely benign · 721 Uncertain significance

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

⚑ Evidence disagreements 613

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 55

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 422

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 422

Predictors split 135

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

All SPTB variants

Pathogenic 207

Pathogenic/Likely pathogenic 52

Likely pathogenic 291

Conflicting classifications of pathogenicity 89

Benign 43

Benign/Likely benign 86

Likely benign 215

Uncertain significance 721

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