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Gene entry

FGFR2

fibroblast growth factor receptor 2

Chromosome
10
Cytoband
10q26.13
Variants (rsID)
52

FGFR2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q26.13). Its official name is “fibroblast growth factor receptor 2”. The reference table lists 52 variants (rsID) for this gene.

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Clinically classified variants

21 reference-table entries with clinical significance.

  • rs2981579Benignsingle nucleotide variantFGFR2 related craniosynostosis
  • rs2981582Benignsingle nucleotide variantFGFR2 related craniosynostosis
  • rs121913478Pathogenicsingle nucleotide variantBeare-Stevenson cutis gyrata syndrome|Endometrial carcinoma|Endometrial neoplasm|FGFR2 related craniosynostosis|11 conditions
  • rs121918487Pathogenicsingle nucleotide variantCrouzon syndrome|Pfeiffer syndrome|FGFR2 related craniosynostosis|11 conditions|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Craniosynostosis syndrome
  • rs121918488Pathogenicsingle nucleotide variantCrouzon syndrome|Jackson-Weiss syndrome|Pfeiffer syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|FGFR2 related craniosynostosis
  • rs121918489Pathogenicsingle nucleotide variantCrouzon syndrome|FGFR2 related craniosynostosis
  • rs121918490Pathogenicsingle nucleotide variantCrouzon syndrome|FGFR2 related craniosynostosis|Inborn genetic diseases|See cases
  • rs121918491Pathogenicsingle nucleotide variantCrouzon syndrome|Craniosynostosis, nonclassifiable autosomal dominant|Scaphocephaly and axenfeld-rieger anomaly|Craniosynostosis syndrome|FGFR2 related craniosynostosis|11 conditions|FGFR2-related disorder|Acrocephalosyndactyly type I|Pfeiffer syndrome
  • rs121918493Pathogenicsingle nucleotide variantCrouzon syndrome|FGFR2 related craniosynostosis
  • rs121918494Pathogenicsingle nucleotide variantCrouzon syndrome|22 conditions|FGFR2 related craniosynostosis|Pfeiffer syndrome
  • rs121918495Pathogenicsingle nucleotide variantPfeiffer syndrome|FGFR2 related craniosynostosis
  • rs121918497Pathogenicsingle nucleotide variantJackson-Weiss syndrome|Crouzon syndrome|Pfeiffer syndrome|FGFR2 related craniosynostosis
  • rs121918499Pathogenicsingle nucleotide variantPfeiffer syndrome|Squamous cell lung carcinoma|Aural atresia, congenital
  • rs121918501Pathogenicsingle nucleotide variantCrouzon syndrome|FGFR2 related craniosynostosis
  • rs121918502Pathogenicsingle nucleotide variantPfeiffer syndrome type 3|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Pfeiffer syndrome|FGFR2 related craniosynostosis
  • rs121918505Pathogenicsingle nucleotide variantPfeiffer syndrome|Neoplasm of stomach|Crouzon syndrome|FGFR2 related craniosynostosis
  • rs121918506Pathogenicsingle nucleotide variantPfeiffer syndrome|Craniosynostosis syndrome|FGFR2 related craniosynostosis
  • rs121918509Pathogenicsingle nucleotide variantLevy-Hollister syndrome
  • rs121918510Pathogenicsingle nucleotide variantPfeiffer syndrome
  • rs77543610Pathogenicsingle nucleotide variantAcrocephalosyndactyly type I|Head and neck neoplasm|FGFR2 related craniosynostosis|11 conditions|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
  • rs776587763Pathogenicsingle nucleotide variantPfeiffer syndrome|FGFR2 related craniosynostosis|Crouzon syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.