Sugi Variant

Sugi Variant/FLI1

FLI1 — 293 ClinVar variants

All ClinVar germline FLI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 6 Conflicting · 40 Benign · 6 Benign/Likely benign · 110 Likely benign · 119 Uncertain significance

Full FLI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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 88

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

Predictors split 17

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

All FLI1 variants

Pathogenic 4

  • p.Arg324Trp Single submitter Bleeding disorder platelet type macrothrombocytopenia
  • p.Gln282Ter Single submitter bleeding disorder, platelet-type, 21
  • p.Pro114fs Single submitter
  • p.Lys345Glu No assertion criteria bleeding disorder, platelet-type, 21

Pathogenic/Likely pathogenic 1

  • p.Asn331fs No assertion criteria Abnormal bleeding

Likely pathogenic 7

  • p.Ala338fs Single submitter Bleeding and platelet disorders
  • p.Arg324fs Single submitter
  • p.Arg337Trp Single submitter bleeding disorder, platelet-type, 21
  • p.Lys354fs Single submitter Bleeding and platelet disorders
  • p.Pro113fs Single submitter FLI1-related disorder
  • p.Arg340Pro No assertion criteria bleeding disorder, platelet-type, 21
  • p.Glu316Ter No assertion criteria bleeding disorder, platelet-type, 21

Conflicting classifications of pathogenicity 6

Benign 40

Benign/Likely benign 6

Likely benign 110

Uncertain significance 119