Sugi Variant

Sugi Variant/BBS7

BBS7 — 818 ClinVar variants

All ClinVar germline BBS7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 292 flagged for review →

57 Pathogenic · 29 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 26 Conflicting · 35 Benign · 3 Benign/Likely benign · 292 Likely benign · 326 Uncertain significance

Full BBS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 292

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 7

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

Predictors lean, ClinVar uncertain 153

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 153

Predictors split 129

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

All BBS7 variants

Pathogenic 57

Pathogenic/Likely pathogenic 29

Likely pathogenic 50

Conflicting classifications of pathogenicity 26

Benign 35

Benign/Likely benign 3

Likely benign 292

Uncertain significance 326

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