Sugi Variant

Sugi Variant/MASP1

MASP1 — 418 ClinVar variants

All ClinVar germline MASP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →

11 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 18 Conflicting · 43 Benign · 18 Benign/Likely benign · 122 Likely benign · 189 Uncertain significance

Full MASP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 123

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 5

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

Predictors lean, ClinVar uncertain 98

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 20

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

All MASP1 variants

Pathogenic 11

Pathogenic/Likely pathogenic 2

Likely pathogenic 15

Conflicting classifications of pathogenicity 18

Benign 43

Benign/Likely benign 18

Likely benign 122

Uncertain significance 189