Sugi Variant

Sugi Variant/FGF8

FGF8 — 138 ClinVar variants

All ClinVar germline FGF8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 5 Benign · 7 Benign/Likely benign · 29 Likely benign · 70 Uncertain significance

Full FGF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 60

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 5

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

Predictors lean, ClinVar uncertain 44

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 FGF8 variants

Pathogenic 5

  • p.Arg127Ter Single submitter hypogonadotropic hypogonadism 6 with or without anosmia
  • p.Arg127Gly No assertion criteria hypogonadotropic hypogonadism 6 with or without anosmia
  • p.His14Asn No assertion criteria hypogonadotropic hypogonadism 6 with or without anosmia ⚠
  • p.Lys100Glu No assertion criteria hypogonadotropic hypogonadism 6 with or without anosmia
  • p.Phe40Leu No assertion criteria hypogonadotropic hypogonadism 6 with or without anosmia

Pathogenic/Likely pathogenic 2

  • p.Arg129Ter Multiple submitters hypogonadotropic hypogonadism 6 with or without anosmia
  • p.Glu107fs Multiple submitters

Likely pathogenic 10

  • c.157-1G>A Multiple submitters holoprosencephaly
  • p.Arg206Gln Multiple submitters FGF8-related disorders
  • p.Thr119Met Multiple submitters holoprosencephaly
  • c.444+1G>A Single submitter holoprosencephaly
  • p.His211fs Single submitter hypogonadotropic hypogonadism 6 with or without anosmia
  • p.Leu97Pro Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
  • p.Val157Phe Single submitter holoprosencephaly ⚠
  • p.Val53Leu Single submitter holoprosencephaly
  • p.Val96Asp Single submitter
  • p.Ala106Glu No assertion criteria semilobar holoprosencephaly

Conflicting classifications of pathogenicity 10

Benign 5

Benign/Likely benign 7

Likely benign 29

Uncertain significance 70