Sugi Variant

Sugi Variant/FMN2

FMN2 — 595 ClinVar variants

All ClinVar germline FMN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 236 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 18 Conflicting · 33 Benign · 12 Benign/Likely benign · 282 Likely benign · 231 Uncertain significance

Full FMN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 236

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 156

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 156

Predictors split 69

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

All FMN2 variants

Pathogenic 6

  • p.Arg540Ter Single submitter intellectual disability, autosomal recessive 47
  • p.Gln745Ter Single submitter intellectual disability, autosomal recessive 47
  • p.Glu1472Ter Single submitter Inborn genetic diseases
  • p.Ile788fs Single submitter
  • p.Ala466fs No assertion criteria intellectual disability, autosomal recessive 47
  • p.Thr839fs No assertion criteria intellectual disability, autosomal recessive 47

Pathogenic/Likely pathogenic 1

  • p.Pro517fs Multiple submitters intellectual disability, autosomal recessive 47

Likely pathogenic 12

  • p.Ile183Phe Multiple submitters intellectual disability, autosomal recessive 47 ⚠
  • p.Arg1450Ter Single submitter
  • p.Arg621Ter Single submitter intellectual disability, autosomal recessive 47
  • p.Asn851fs Single submitter intellectual disability, autosomal recessive 47
  • p.Gln292Ter Single submitter intellectual disability, autosomal recessive 47
  • p.Gln681Ter Single submitter intellectual disability, autosomal recessive 47
  • p.Gly1504Ter Single submitter intellectual disability, autosomal recessive 47
  • p.Leu1535Ter Single submitter intellectual disability, autosomal recessive 47
  • p.Pro947fs Single submitter intellectual disability, autosomal recessive 47
  • p.Ser650fs Single submitter
  • p.Trp366Ter Single submitter
  • p.Trp601Ter Single submitter

Conflicting classifications of pathogenicity 18

Benign 33

Benign/Likely benign 12

Likely benign 282

Uncertain significance 231