Sugi Variant

Sugi Variant/FGF10

FGF10 — 134 ClinVar variants

All ClinVar germline FGF10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 5 Conflicting · 10 Benign · 3 Benign/Likely benign · 23 Likely benign · 63 Uncertain significance

Full FGF10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 52

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 4

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

Predictors lean, ClinVar uncertain 38

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

Predictors split 10

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

All FGF10 variants

Pathogenic 10

  • p.Gly64Ter Multiple submitters LADD syndrome
  • p.Pro34fs Multiple submitters lacrimoauriculodentodigital syndrome 3
  • c.*1093A>G Single submitter lung adenocarcinoma
  • p.Val67fs Single submitter
  • p.Cys106Phe No assertion criteria lacrimoauriculodentodigital syndrome 3
  • p.Gly138Glu No assertion criteria aplasia of lacrimal and salivary glands
  • p.Ile156Arg No assertion criteria lacrimoauriculodentodigital syndrome 3
  • p.Lys137Ter No assertion criteria lacrimoauriculodentodigital syndrome 3
  • p.Trp79fs No assertion criteria lacrimoauriculodentodigital syndrome 3
  • p.Trp79Ter No assertion criteria lacrimoauriculodentodigital syndrome 3

Pathogenic/Likely pathogenic 1

  • p.Arg193Ter Multiple submitters aplasia of lacrimal and salivary glands

Likely pathogenic 19

Conflicting classifications of pathogenicity 5

  • p.Arg80Ser Single submitter LADD syndrome ⚠
  • p.Cys22Arg Single submitter aplasia of lacrimal and salivary glands ⚠
  • p.Met204Val Single submitter aplasia of lacrimal and salivary glands ⚠
  • p.Ser62Arg Single submitter Inborn genetic diseases ⚠
  • p.Tyr141= Single submitter aplasia of lacrimal and salivary glands

Benign 10

Benign/Likely benign 3

  • c.325+15C>A Multiple submitters
  • p.His207Pro Multiple submitters aplasia of lacrimal and salivary glands
  • p.Val33Ile Multiple submitters aplasia of lacrimal and salivary glands

Likely benign 23

Uncertain significance 63