Sugi Variant

Sugi Variant/FGF12

FGF12 — 271 ClinVar variants

All ClinVar germline FGF12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 7 Conflicting · 51 Benign · 9 Benign/Likely benign · 103 Likely benign · 96 Uncertain significance

Full FGF12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 59

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

Predictors split 24

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

All FGF12 variants

Pathogenic/Likely pathogenic 2

  • p.Arg52His Multiple submitters developmental and epileptic encephalopathy, 47
  • p.Gly50Ser Multiple submitters FGF12-related disorders

Likely pathogenic 3

Conflicting classifications of pathogenicity 7

Benign 51

Benign/Likely benign 9

Likely benign 103

Uncertain significance 96