Sugi Variant

Sugi Variant/FGFR3

FGFR3 — 1286 ClinVar variants

All ClinVar germline FGFR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 541 flagged for review →

23 Pathogenic · 17 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 88 Conflicting · 44 Benign · 59 Benign/Likely benign · 443 Likely benign · 594 Uncertain significance

Full FGFR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 541

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 10

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

Predictors agree, ClinVar conflicts 46

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 362

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 362

Predictors split 122

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

All FGFR3 variants

Pathogenic 23

  • p.Ala391Glu Multiple submitters Common craniosynostosis syndromes
  • p.Arg248Cys Multiple submitters FGFR3-related disorder
  • p.Asn540Lys Multiple submitters FGFR3-related chondrodysplasia
  • p.Gly370Cys Multiple submitters FGFR3-related disorder ⚠
  • p.Gly375Cys Multiple submitters FGFR3-related chondrodysplasia ⚠
  • p.Gly380Arg Multiple submitters FGFR3-related chondrodysplasia
  • p.Lys650Gln Multiple submitters FGFR3-related chondrodysplasia
  • p.Lys650Glu Multiple submitters FGFR3-related disorder
  • p.Lys650Met Multiple submitters severe achondroplasia-developmental delay-acanthosis nigricans syndrome
  • p.Lys650Thr Multiple submitters LADD syndrome
  • p.Ser249Cys Multiple submitters thanatophoric dysplasia type 1
  • p.Ter807Arg Multiple submitters testicular germ cell tumor
  • p.Ter807Cys Multiple submitters FGFR3-related disorder
  • p.Ter807Gly Multiple submitters FGFR3-related disorder
  • p.Ter807Leu Multiple submitters achondroplasia
  • p.Ter807Ser Multiple submitters FGFR3-related chondrodysplasia
  • p.Tyr373Cys Multiple submitters FGFR3-related disorder ⚠
  • p.Arg248delinsLeuCys Single submitter FGFR3-related chondrodysplasia
  • p.Thr652Ala Single submitter thanatophoric dysplasia type 1
  • p.Glu322Lys No assertion criteria colon carcinoma
  • p.Gly637Glu No assertion criteria urinary bladder cancer
  • p.Gly697Ser No assertion criteria urinary bladder cancer
  • p.His284fs No assertion criteria colon carcinoma

Pathogenic/Likely pathogenic 17

  • p.Arg621His Multiple submitters FGFR3-related chondrodysplasia
  • p.Asn540Asp Multiple submitters camptodactyly-tall stature-scoliosis-hearing loss syndrome
  • p.Asn540Ser Multiple submitters FGFR3-related disorder ⚠
  • p.Asn540Thr Multiple submitters FGFR3-related disorder
  • p.Gly268Cys Multiple submitters hypochondroplasia
  • p.Leu324Val Multiple submitters hypochondroplasia
  • p.Lys650Asn Multiple submitters FGFR3-related chondrodysplasia
  • p.Pro250Arg Multiple submitters Common craniosynostosis syndromes
  • p.Ser279Cys Multiple submitters FGFR3-related chondrodysplasia
  • p.Ser344Cys Multiple submitters FGFR3-related chondrodysplasia
  • p.Ser348Cys Multiple submitters FGFR3-related chondrodysplasia ⚠
  • p.Ser351Phe Multiple submitters hypochondroplasia
  • p.Ser371Cys Multiple submitters FGFR3-related disorder ⚠
  • p.Ser84Leu Multiple submitters severe achondroplasia-developmental delay-acanthosis nigricans syndrome ⚠
  • p.Ter807Trp Multiple submitters FGFR3-related disorder
  • p.Thr264Met Multiple submitters hypochondroplasia
  • p.Tyr278Cys Multiple submitters FGFR3-related chondrodysplasia

Likely pathogenic 18

Conflicting classifications of pathogenicity 88

Benign 44

Benign/Likely benign 59

Likely benign 443

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 594

Showing the top 300 by review status; the full set is in the sitemap.