Sugi Variant

Sugi Variant/MAF

MAF — 252 ClinVar variants

All ClinVar germline MAF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

13 Pathogenic · 4 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 6 Conflicting · 19 Benign · 10 Benign/Likely benign · 64 Likely benign · 117 Uncertain significance

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

⚑ Evidence disagreements 89

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 57

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

Predictors split 29

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

All MAF variants

Pathogenic 13

Pathogenic/Likely pathogenic 4

  • p.Ala302Val Multiple submitters cataract 21 multiple types
  • p.Arg299Cys Multiple submitters cataract 21 multiple types
  • p.Arg306Gly Multiple submitters Inborn genetic diseases
  • p.Pro59His Multiple submitters Ayme-Gripp syndrome

Likely pathogenic 19

Conflicting classifications of pathogenicity 6

Benign 19

Benign/Likely benign 10

  • c.-30GGC[4] Multiple submitters cataract 21 multiple types
  • p.Ala239Thr Multiple submitters Inborn genetic diseases
  • p.Ala343Val Multiple submitters cataract 21 multiple types ⚠
  • p.Arg294= Multiple submitters cataract 21 multiple types
  • p.Gln393= Multiple submitters cataract 21 multiple types
  • p.Gly145Ser Multiple submitters cataract 21 multiple types
  • p.Gly198= Multiple submitters cataract 21 multiple types
  • p.Gly217Ser Multiple submitters Ayme-Gripp syndrome
  • p.Gly234= Multiple submitters cataract 21 multiple types
  • p.Gly238_Ala239insGly Multiple submitters cataract 21 multiple types

Likely benign 64

Uncertain significance 117