Sugi Variant

Sugi Variant/MIB1

MIB1 — 645 ClinVar variants

All ClinVar germline MIB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 280 flagged for review →

1 Pathogenic · 26 Likely pathogenic · 7 Conflicting · 26 Benign · 6 Benign/Likely benign · 216 Likely benign · 363 Uncertain significance

Full MIB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 280

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 3

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

Predictors lean, ClinVar uncertain 192

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 192

Predictors split 85

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

All MIB1 variants

Pathogenic 1

  • p.Cys850Ter No assertion criteria hypercholesterolemia, familial, 1

Likely pathogenic 26

Conflicting classifications of pathogenicity 7

Benign 26

Benign/Likely benign 6

Likely benign 216

Uncertain significance 363

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