Sugi Variant

Sugi Variant/MBTPS1

MBTPS1 — 532 ClinVar variants

All ClinVar germline MBTPS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 242 flagged for review →

16 Pathogenic · 7 Likely pathogenic · 7 Conflicting · 30 Benign · 9 Benign/Likely benign · 207 Likely benign · 256 Uncertain significance

Full MBTPS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 242

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 188

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 188

Predictors split 51

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

All MBTPS1 variants

Pathogenic 16

Likely pathogenic 7

Conflicting classifications of pathogenicity 7

Benign 30

Benign/Likely benign 9

Likely benign 207

Uncertain significance 256