FGFR2 Chromosome 10

Fibroblast growth factor receptor 2

138 variants 138 Health Risk

Upload your DNA to see your personal genotypes for variants in FGFR2.

What This Gene Does

The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

Gene Info

Gene Group

"Receptor tyrosine kinases|CD molecules|I-set domain containing"

Locus Type

gene with protein product

Location

10q26.13

Ensembl

ENSG00000066468

Associated Conditions (47)

Beare-Stevenson cutis gyrata syndrome

Endometrial carcinoma

FGFR2-related craniosynostosis

11 conditions

FGFR2-related disorder

Pfeiffer syndrome

CRANIOSYNOSTOSIS

NONSYNDROMIC UNICORONAL

Crouzon syndrome

Craniosynostosis syndrome

Saethre-Chotzen syndrome

Isolated Coronal Synostosis

Inborn genetic diseases

FGFR2-realated disorder

Craniosynostosis

nonspecific

Levy-Hollister syndrome

Acrocephalosyndactyly type I

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Neoplasm

+27 more conditions

Key Variants

RS121913478

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome, Endometrial carcinoma, FGFR2-related craniosynostosis

Health Risk

RS121918504

Conflicting classifications of pathogenicity

CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL, Crouzon syndrome

Health Risk

RS1276387170

Conflicting classifications of pathogenicity

Craniosynostosis syndrome, Saethre-Chotzen syndrome, Crouzon syndrome

Health Risk

RS1277734487

Conflicting classifications of pathogenicity

Health Risk

RS1318903454

Conflicting classifications of pathogenicity

Health Risk

RS1358919643

Conflicting classifications of pathogenicity

Health Risk

RS140813163

Conflicting classifications of pathogenicity

Health Risk

RS141724446

Conflicting classifications of pathogenicity

Health Risk

RS141929882

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Craniosynostosis syndrome

Health Risk

RS143978938

Conflicting classifications of pathogenicity

Health Risk

RS147307031

Conflicting classifications of pathogenicity

Health Risk

RS147674677

Conflicting classifications of pathogenicity

Crouzon syndrome, Isolated Coronal Synostosis, Beare-Stevenson cutis gyrata syndrome

Health Risk

All Variants (138)

RSID	Category	Clinical Significance	Conditions
RS1589722765	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related disorder, FGFR2-related craniosynostosis
RS1589828632	Health Risk	Pathogenic	Pfeiffer syndrome, Pfeiffer syndrome
RS1847174277	Health Risk	Pathogenic	Colorectal cancer, Colorectal cancer
RS1847510893	Health Risk	Pathogenic	Levy-Hollister syndrome, Levy-Hollister syndrome
RS2133825396	Health Risk	Pathogenic	FGFR2-related craniosynostosis, Pfeiffer syndrome, FGFR2-related craniosynostosis
RS2134253566	Health Risk	Pathogenic	FGFR2-related craniosynostosis, Pfeiffer syndrome, FGFR2-related craniosynostosis
RS2134253609	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related disorder, FGFR2-related craniosynostosis
RS2134253669	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2134254345	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related disorder, FGFR2-related craniosynostosis
RS2134256250	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2134260022	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related disorder, FGFR2-related craniosynostosis
RS2540045968	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2540049261	Health Risk	Pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS281865420	Health Risk	Pathogenic	-, -
RS387906677	Health Risk	Pathogenic	Bent bone dysplasia syndrome 1, Bent bone dysplasia syndrome 1
RS387907372	Health Risk	Pathogenic	Acrocephalosyndactyly type I, Acrocephalosyndactyly type I
RS763017169	Health Risk	Pathogenic	—
RS776587763	Health Risk	Pathogenic	Pfeiffer syndrome, FGFR2-related craniosynostosis, Crouzon syndrome
RS879253718	Health Risk	Pathogenic	Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS879253719	Health Risk	Pathogenic	Pfeiffer syndrome, FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS879253720	Health Risk	Pathogenic	LADD syndrome 1, LADD syndrome 1
RS879253721	Health Risk	Pathogenic	Pfeiffer syndrome, Crouzon syndrome, FGFR2-related craniosynostosis
RS886037837	Health Risk	Pathogenic	Pfeiffer syndrome, Pfeiffer syndrome
RS1057519040	Health Risk	Pathogenic/Likely pathogenic	Crouzon syndrome, Crouzon syndrome
RS1057519042	Health Risk	Pathogenic/Likely pathogenic	Crouzon syndrome, Crouzon syndrome
RS1057519044	Health Risk	Pathogenic/Likely pathogenic	Crouzon syndrome, 11 conditions, FGFR2-related craniosynostosis
RS1057519045	Health Risk	Pathogenic/Likely pathogenic	Crouzon syndrome, Pemigatinib resistance, FGFR2-related craniosynostosis
RS1057519047	Health Risk	Pathogenic/Likely pathogenic	Pfeiffer syndrome, FGFR2-related craniosynostosis, Pfeiffer syndrome
RS121913474	Health Risk	Pathogenic/Likely pathogenic	Beare-Stevenson cutis gyrata syndrome, Adenoid cystic carcinoma, Neoplasm
RS121918493	Health Risk	Pathogenic/Likely pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, Crouzon syndrome
RS121918494	Health Risk	Pathogenic/Likely pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, 22 conditions
RS121918506	Health Risk	Pathogenic/Likely pathogenic	Pfeiffer syndrome, FGFR2-related craniosynostosis, FGFR2-related disorder
RS121918507	Health Risk	Pathogenic/Likely pathogenic	Crouzon syndrome, Familial scaphocephaly syndrome, McGillivray type
RS1434545235	Health Risk	Pathogenic/Likely pathogenic	FGFR2-related craniosynostosis, 11 conditions, Bent bone dysplasia syndrome 1
RS1564919048	Health Risk	Pathogenic/Likely pathogenic	FGFR2-related craniosynostosis, Crouzon syndrome, FGFR2-related craniosynostosis
RS1845559552	Health Risk	Pathogenic/Likely pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1850289942	Health Risk	Pathogenic/Likely pathogenic	FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS387906676	Health Risk	Pathogenic/Likely pathogenic	Crouzon syndrome, FGFR2-related craniosynostosis, Crouzon syndrome

« Prev 1 2 3