Sugi Variant

Sugi Variant/MN1

MN1 — 519 ClinVar variants

All ClinVar germline MN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 340 flagged for review →

13 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 9 Conflicting · 14 Benign · 1 Benign/Likely benign · 93 Likely benign · 369 Uncertain significance

Full MN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 340

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.

Predicted LoF vs a conflicting call 3

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 206

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 206

Predictors split 128

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

All MN1 variants

Pathogenic 13

Pathogenic/Likely pathogenic 2

Likely pathogenic 18

Conflicting classifications of pathogenicity 9

Benign 14

Benign/Likely benign 1

  • p.Gln550dup Multiple submitters Inborn genetic diseases

Likely benign 93

Uncertain significance 369

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