Sugi Variant

Sugi Variant/SETBP1

SETBP1 — 1848 ClinVar variants

All ClinVar germline SETBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 858 flagged for review →

86 Pathogenic · 8 Pathogenic/Likely pathogenic · 38 Likely pathogenic · 132 Conflicting · 146 Benign · 69 Benign/Likely benign · 594 Likely benign · 775 Uncertain significance

Full SETBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 858

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 3

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

Predictors agree, ClinVar conflicts 87

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

Predicted LoF vs a conflicting call 2

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 523

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 523

Predictors split 243

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 243

All SETBP1 variants

Pathogenic 86

Pathogenic/Likely pathogenic 8

Likely pathogenic 38

Conflicting classifications of pathogenicity 132

Benign 146

Benign/Likely benign 69

Likely benign 594

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

Uncertain significance 775

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