FGFR3 (fibroblast growth factor receptor 3) - Rat Genome Database

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Gene: FGFR3 (fibroblast growth factor receptor 3) Homo sapiens
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Symbol: FGFR3
Name: fibroblast growth factor receptor 3
RGD ID: 733044
HGNC Page HGNC:3690
Description: Enables fibroblast growth factor binding activity; fibroblast growth factor receptor activity; and identical protein binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of intracellular signal transduction; and positive regulation of tyrosine phosphorylation of STAT protein. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and transport vesicle. Implicated in several diseases, including Human papillomavirus infectious disease; SADDAN; acanthosis nigricans; bone disease (multiple); and carcinoma (multiple). Biomarker of several diseases, including Merkel cell carcinoma; chronic myeloid leukemia; gastrointestinal system cancer (multiple); thanatophoric dysplasia; and urinary bladder cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACH; achondroplasia, thanatophoric dwarfism; CD333; CEK2; FGFR-3; fibroblast growth factor receptor 3 variant 4; fibroblast growth factor receptor 3-S; HSFGFR3EX; hydroxyaryl-protein kinase; JTK4; tyrosine kinase JTK4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FGFR3P1   FGFR3P2   FGFR3P3   FGFR3P4   FGFR3P5   FGFR3P6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3841,793,293 - 1,808,867 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,793,286 - 1,808,873 (+)Ensemblhg38GRCh38
GRCh3741,795,020 - 1,810,594 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,765,421 - 1,780,396 (+)NCBIBuild 36Build 36hg18NCBI36
Build 3441,762,853 - 1,777,829NCBI
Celera41,707,555 - 1,723,113 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,725,137 - 1,753,471 (+)NCBIHuRef
CHM1_141,792,977 - 1,808,551 (+)NCBICHM1_1
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
46, XY Disorders of Sex Development  (IAGP)
absence epilepsy  (IAGP)
acanthosis nigricans  (IAGP)
achondroplasia  (EXP,IAGP,ISS)
Achondroplastic Dwarfism  (IAGP)
acrocephalosyndactylia  (IAGP)
asphyxiating thoracic dystrophy  (IAGP)
autism spectrum disorder  (IAGP)
autosomal dominant disease  (ISS)
bladder urothelial carcinoma  (IEP)
breast adenocarcinoma  (IAGP)
breast cancer  (IEP)
camptodactyly-tall stature-scoliosis-hearing loss syndrome  (EXP,IAGP)
cervical cancer  (IAGP)
cervical squamous cell carcinoma  (IAGP)
cervix carcinoma  (IAGP)
chondrosarcoma  (ISO)
chronic myeloid leukemia  (IEP)
cleft lip  (EXP)
cleft palate  (EXP)
colon carcinoma  (IAGP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP)
connective tissue disease  (IAGP)
craniosynostosis  (IAGP)
craniosynostosis 3  (IAGP)
Craniosynostosis Syndrome, Autosomal Recessive  (IAGP)
Crouzon syndrome  (IAGP)
Crouzon syndrome-acanthosis nigricans syndrome  (EXP,IAGP)
demyelinating disease  (ISO)
Desbuquois dysplasia  (EXP)
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype  (IAGP)
Dwarfism  (IAGP,ISO)
epidermal nevus  (EXP,IAGP)
epilepsy  (IAGP)
Facial Asymmetry  (IAGP)
genetic disease  (IAGP)
Growth Disorders  (IAGP)
hamartoma  (IAGP)
hepatoblastoma  (IAGP)
Hodgkin's lymphoma  (IAGP)
hypochondroplasia  (EXP,IAGP,ISS)
Knee Osteoarthritis  (ISO)
lacrimoauriculodentodigital syndrome 1  (IAGP)
lacrimoauriculodentodigital syndrome 2  (IAGP)
LADD syndrome  (IAGP)
Larsen syndrome  (IAGP)
lung squamous cell carcinoma  (IAGP)
Merkel cell carcinoma  (IEP)
Muenke syndrome  (EXP,IAGP,ISS)
multiple myeloma  (EXP,IAGP)
Nervous System Malformations  (IAGP)
neuroblastoma  (IAGP)
oral squamous cell carcinoma  (IAGP)
osteochondrodysplasia  (IAGP)
papillomavirus infectious disease  (IAGP)
Pituitary Stalk Interruption Syndrome  (IAGP)
SADDAN  (IAGP)
Saethre-Chotzen syndrome  (IAGP)
sarcoma  (IAGP)
scoliosis  (ISS)
seborrheic keratosis  (IAGP)
seminoma  (EXP)
spermatocytoma  (IAGP)
syndromic microphthalmia 5  (IAGP)
testicular cancer  (IAGP)
testicular germ cell cancer  (IAGP)
Testicular Germ Cell Tumor  (EXP,IAGP)
thanatophoric dysplasia  (EXP,IAGP,IEP,ISO,ISS)
Thanatophoric Dysplasia, Type I  (EXP,IAGP)
Thanatophoric Dysplasia, Type II  (EXP,IAGP)
tongue cancer  (IEP)
tonsil squamous cell carcinoma  (IEP)
transitional cell carcinoma  (EXP,IAGP)
urinary bladder cancer  (EXP,IAGP,IEP,IMP)
Urinary Bladder Neoplasm  (IAGP)
Uterine Cervical Neoplasms  (EXP,IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
antimonite  (EXP)
arachidonic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
caffeine  (EXP)
calcitriol  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorthalidone  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
diallyl disulfide  (EXP)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dimercaprol  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (EXP,ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
Evodiamine  (EXP)
fenamidone  (ISO)
FR900359  (EXP)
gefitinib  (EXP)
genistein  (EXP)
gentamycin  (ISO)
Glabrene  (EXP)
gossypol  (EXP)
heparan sulfate  (ISO)
heparin  (ISO)
hydrogen chloride  (EXP)
hydroquinone  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP)
inulin  (ISO)
isobutanol  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
ketamine  (ISO)
kojic acid  (EXP)
lead(0)  (EXP)
lenalidomide  (EXP)
Licochalcone B  (EXP)
maneb  (ISO)
masitinib  (EXP)
metacetamol  (ISO)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
midostaurin  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
nitrofen  (ISO)
okadaic acid  (EXP)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
PD173074  (EXP)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (EXP,ISO)
pomalidomide  (EXP)
ponatinib  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
retinyl acetate  (ISO)
SB 431542  (EXP)
sildenafil citrate  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
tanespimycin  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triacsin C  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alveolar secondary septum development  (ISO)
apoptotic process  (IEA)
axonogenesis involved in innervation  (ISO)
bone development  (ISO)
bone maturation  (ISS)
bone mineralization  (ISS)
bone morphogenesis  (IEA,ISO,ISS,TAS)
bone trabecula morphogenesis  (ISO)
calcium ion homeostasis  (ISO)
cartilage development  (IEA,ISO)
cell differentiation  (ISO)
cell population proliferation  (IEA)
cell surface receptor signaling pathway via JAK-STAT  (IMP)
cell-cell signaling  (IEA,ISO)
central nervous system myelination  (ISO)
chondrocyte differentiation  (TAS)
chondrocyte proliferation  (TAS)
cochlea development  (ISO)
digestive tract morphogenesis  (ISO)
endochondral bone growth  (TAS)
endochondral ossification  (TAS)
epithelial cell fate commitment  (ISO)
ERK1 and ERK2 cascade  (ISO)
fibroblast growth factor receptor apoptotic signaling pathway  (IMP)
fibroblast growth factor receptor signaling pathway  (IBA,IDA,IEA,IGI,ISO,TAS)
forebrain development  (ISO)
inner ear development  (ISO)
inner ear receptor cell differentiation  (ISO)
lens fiber cell development  (ISO)
lens morphogenesis in camera-type eye  (ISO)
MAPK cascade  (TAS)
morphogenesis of an epithelium  (ISO)
negative regulation of astrocyte differentiation  (ISO)
negative regulation of cell differentiation  (ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of developmental growth  (ISS)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of gene expression  (ISO)
negative regulation of mitotic nuclear division  (ISO)
negative regulation of smoothened signaling pathway  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
oligodendrocyte development  (ISO)
ossification  (IEA)
p38MAPK cascade  (ISO)
positive regulation of bone mineralization  (ISO)
positive regulation of canonical Wnt signaling pathway  (ISO)
positive regulation of cell communication  (IEA)
positive regulation of cell population proliferation  (IBA,IEA,IGI,IMP,ISO)
positive regulation of cell proliferation in bone marrow  (ISO)
positive regulation of endothelial cell proliferation  (ISO)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of MAPK cascade  (IBA,IEA,IMP,ISO)
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway  (ISO)
positive regulation of neuron apoptotic process  (ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP,TAS)
positive regulation of phospholipase activity  (IMP)
positive regulation of protein ubiquitination  (ISO)
positive regulation of signaling  (IEA)
positive regulation of tyrosine phosphorylation of STAT protein  (IMP)
post-anal tail morphogenesis  (ISO)
regulation of bone remodeling  (ISO)
regulation of collagen metabolic process  (ISO)
regulation of ossification  (ISO)
regulation of osteoclast differentiation  (ISO)
response to axon injury  (ISO)
response to sodium phosphate  (ISO)
skeletal system development  (TAS)
skeletal system morphogenesis  (IEA)
somatic stem cell population maintenance  (ISO)
substantia nigra development  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-minute APGAR score of 1  (IAGP)
5-minute APGAR score of 1  (IAGP)
Abnormal antihelix morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal digit morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal hair pattern  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal iliac wing morphology  (IAGP)
Abnormal lacrimal duct morphology  (IAGP)
Abnormal lacrimal gland morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal midface morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal sacroiliac joint morphology  (IAGP)
Abnormal sacrum morphology  (IAGP)
Abnormal salivary gland morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of lower limb joint  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the elbow  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the nervous system  (IAGP)
Absent lacrimal punctum  (IAGP)
Absent thumb  (IAGP)
Acanthosis nigricans  (IAGP)
Advanced ossification of carpal bones  (IAGP)
Alacrima  (IAGP)
Amblyopia  (IAGP)
Anosmia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/hypoplasia of the extremities  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Aplasia/Hypoplasia of the mandible  (IAGP)
Arachnodactyly  (IAGP)
Arthritis  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bell-shaped thorax  (IAGP)
Bicornuate uterus  (IAGP)
Bifid uvula  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Bladder neoplasm  (IAGP)
Blepharospasm  (IAGP)
Blue sclerae  (IAGP)
Bowed humerus  (IAGP)
Bowel incontinence  (IAGP)
Bowing of the legs  (IAGP)
Bowing of the long bones  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain abscess  (IAGP)
Brain atrophy  (IAGP)
Brain stem compression  (IAGP)
Breech presentation  (IAGP)
Broad foot  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Broad thumb  (IAGP)
Broad toe  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Camptodactyly of toe  (IAGP)
Capitate-hamate fusion  (IAGP)
Carcinoma  (IAGP)
Carious teeth  (IAGP)
Carpal synostosis  (IAGP)
Central apnea  (IAGP)
Central sleep apnea  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cervical spinal canal stenosis  (IAGP)
Cervix cancer  (IAGP)
Champagne cork sign  (IAGP)
Chiari malformation  (IAGP)
Childhood onset short-limb short stature  (IAGP)
Choanal atresia  (IAGP)
Choanal stenosis  (IAGP)
Choriocarcinoma  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cloverleaf skull  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Colon cancer  (IAGP)
Conductive hearing impairment  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Conical tooth  (IAGP)
Conjunctivitis  (IAGP)
Convex nasal ridge  (IAGP)
Corneal neovascularization  (IAGP)
Corneal ulceration  (IAGP)
Coronal craniosynostosis  (IAGP)
Coxa valga  (IAGP)
Craniocervical junction constriction  (IAGP)
Craniofacial dysostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Cutaneous syndactyly  (IAGP)
Death in infancy  (IAGP)
Decreased corneal sensation  (IAGP)
Decreased fetal movement  (IAGP)
Delayed ability to walk  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate short stature  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duplication of the distal phalanx of the hallux  (IAGP)
Duplication of thumb phalanx  (IAGP)
Dysphagia  (IAGP)
Elevated circulating alpha-fetoprotein concentration  (IAGP)
Embryonal neoplasm  (IAGP)
Enamel hypoplasia  (IAGP)
Encephalocele  (IAGP)
Enlarged cerebellum  (IAGP)
Epicanthus  (IAGP)
Epidermal nevus  (IAGP)
Epiphora  (IAGP)
Epiphyseal dysplasia  (IAGP)
Excessive wrinkled skin  (IAGP)
Exostoses  (IAGP)
Exotropia  (IAGP)
Facial asymmetry  (IAGP)
Feeding difficulties  (IAGP)
Femoral bowing  (IAGP)
Fetal onset  (IAGP)
Fibular bowing  (IAGP)
Finger syndactyly  (IAGP)
Flared metaphysis  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Floppy infant  (IAGP)
Focal impaired awareness seizure  (IAGP)
Frontal bossing  (IAGP)
Functional abnormality of the middle ear  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized joint hypermobility  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Genu varum  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Growth delay  (IAGP)
Hallux valgus  (IAGP)
Hamartoma  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hepatoblastoma  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
High forehead  (IAGP)
High myopia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip dislocation  (IAGP)
Hip joint hypermobility  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperlordosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the epiglottis  (IAGP)
Hypoplasia of the lacrimal punctum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplastic ilia  (IAGP)
Hypoplastic pelvis  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Hypoxemia  (IAGP)
Increased corneal thickness  (IAGP)
Increased intracranial pressure  (IAGP)
Increased nuchal translucency  (IAGP)
Increased vertebral height  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular menstruation  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Keratoconjunctivitis  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Knee dislocation  (IAGP)
Knee joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Lacrimal duct aplasia  (IAGP)
Lacrimal duct atresia  (IAGP)
Lacrimal duct stenosis  (IAGP)
Lacrimal gland aplasia  (IAGP)
Late first trimester onset  (IAGP)
Lethal short-limbed short stature  (IAGP)
Limb undergrowth  (IAGP)
Limbal stem cell deficiency  (IAGP)
Limitation of joint mobility  (IAGP)
Limited elbow extension  (IAGP)
Limited hip extension  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Lower limb undergrowth  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lumbar kyphosis in infancy  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Megalencephaly  (IAGP)
Melanocytic nevus  (IAGP)
Mesomelia  (IAGP)
Metacarpal synostosis  (IAGP)
Metaphyseal chondrodysplasia  (IAGP)
Metaphyseal irregularity  (IAGP)
Metaphyseal widening  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Mixed hearing impairment  (IAGP)
Moderate intellectual disability  (IAGP)
Monkey wrench femoral neck  (IAGP)
Motor delay  (IAGP)
Multiple myeloma  (IAGP)
Nail dysplasia  (IAGP)
Narrow chest  (IAGP)
Narrow greater sciatic notch  (IAGP)
Narrow internal auditory canal  (IAGP)
Narrow palate  (IAGP)
Narrow vertebral interpedicular distance  (IAGP)
Neonatal death  (IAGP)
Neonatal respiratory distress  (IAGP)
Neonatal short-limb short stature  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the stomach  (IAGP)
Neuroblastoma  (IAGP)
Neurodevelopmental delay  (IAGP)
Numerous nevi  (IAGP)
Obesity  (IAGP)
Obstructive sleep apnea  (IAGP)
Open angle glaucoma  (IAGP)
Open bite  (IAGP)
Optic atrophy  (IAGP)
Orofacial cleft  (IAGP)
Osteoarthritis  (IAGP)
Osteochondroma  (IAGP)
Palmoplantar cutis laxa  (IAGP)
Parietal bossing  (IAGP)
Parietal foramina  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Plagiocephaly  (IAGP)
Platyspondyly  (IAGP)
Polyhydramnios  (IAGP)
Postnatal growth retardation  (IAGP)
Premature rupture of membranes  (IAGP)
Profound intellectual disability  (IAGP)
Prominent crus of helix  (IAGP)
Prominent forehead  (IAGP)
Prominent lesser trochanter  (IAGP)
Prominent nasal bridge  (IAGP)
Proportionate short stature  (IAGP)
Proptosis  (IAGP)
Protuberant abdomen  (IAGP)
Proximal radio-ulnar synostosis  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary hypoplasia  (IAGP)
Radial bowing  (IAGP)
Radial deviation of finger  (IAGP)
Radial head subluxation  (IAGP)
Radioulnar synostosis  (IAGP)
Recurrent corneal erosions  (IAGP)
Recurrent otitis media  (IAGP)
Redundant skin  (IAGP)
Relative macrocephaly  (IAGP)
Renal cell carcinoma  (IAGP)
Renal hypoplasia  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Rhizomelia  (IAGP)
Round face  (IAGP)
Sarcoma  (IAGP)
Scoliosis  (IAGP)
Seborrheic keratosis  (IAGP)
Second trimester onset  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Severe intellectual disability  (IAGP)
Severe platyspondyly  (IAGP)
Severe short stature  (IAGP)
Short clavicles  (IAGP)
Short femoral neck  (IAGP)
Short femur  (IAGP)
Short foot  (IAGP)
Short greater sciatic notch  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short middle phalanx of finger  (IAGP)
Short middle phalanx of toe  (IAGP)
Short nasal bridge  (IAGP)
Short neck  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short proximal phalanx of finger  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Short thumb  (IAGP)
Short toe  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal dysplasia  (IAGP)
Skin tags  (IAGP)
Sleep apnea  (IAGP)
Small abnormally formed scapulae  (IAGP)
Small face  (IAGP)
Small for gestational age  (IAGP)
Small foramen magnum  (IAGP)
Spinal canal stenosis  (IAGP)
Spinal stenosis with reduced interpedicular distance  (IAGP)
Split hand  (IAGP)
Sporadic  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Synophrys  (IAGP)
Tall stature  (IAGP)
Tarsal synostosis  (IAGP)
Temporal bossing  (IAGP)
Temporal lobe dysplasia  (IAGP)
Teratoma  (IAGP)
Testicular neoplasm  (IAGP)
Thimble-shaped middle phalanges of hand  (IAGP)
Thoracic hypoplasia  (IAGP)
Thoracolumbar kyphosis  (IAGP)
Tibial bowing  (IAGP)
Toe clinodactyly  (IAGP)
Toe syndactyly  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Trident hand  (IAGP)
Triphalangeal thumb  (IAGP)
Truncal obesity  (IAGP)
Turricephaly  (IAGP)
Typified by somatic mosaicism  (IAGP)
Ulnar bowing  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Unilateral renal agenesis  (IAGP)
Upper airway obstruction  (IAGP)
Upper limb undergrowth  (IAGP)
Urinary incontinence  (IAGP)
Uterine leiomyoma  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Wide anterior fontanel  (IAGP)
Wide femoral metaphysis  (IAGP)
Wide-cupped costochondral junctions  (IAGP)
Widened interpedicular distance  (IAGP)
Xerostomia  (IAGP)
References

References - curated
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16. Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene. Matsushita M, etal., Endocrinology. 2015 Feb;156(2):548-54. doi: 10.1210/en.2014-1914. Epub 2014 Dec 2.
17. Fibroblast growth factor 2 (FGF2) and FGF receptor expression in an experimental demyelinating disease with extensive remyelination. Messersmith DJ, etal., J Neurosci Res. 2000 Oct 15;62(2):241-56.
18. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Meyers GA, etal., Nat Genet. 1995 Dec;11(4):462-4.
19. New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis. Moko SB and Blandin de Chalain TM, J Craniomaxillofac Surg. 2001 Feb;29(1):22-4.
20. Indian hedgehog signaling pathway differences between swarm rat chondrosarcoma and native rat chondrocytes. Oji GS, etal., Iowa Orthop J. 2007;27:9-16.
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24. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
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26. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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33. Fibroblast Growth Factor Receptor 3 Inhibits Osteoarthritis Progression in the Knee Joints of Adult Mice. Tang J, etal., Arthritis Rheumatol. 2016 Oct;68(10):2432-43. doi: 10.1002/art.39739.
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35. Somatic mutations of fibroblast growth factor receptor 3 (FGFR3) are uncommon in carcinomas of the uterine cervix. Wu R, etal., Oncogene. 2000 Nov 16;19(48):5543-6.
36. Altered intracellular localization of fibroblast growth factor receptor 3 in human breast cancer. Zammit C, etal., J Pathol. 2001 May;194(1):27-34.
Additional References at PubMed
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PMID:29850625   PMID:29909202   PMID:29941343   PMID:29991678   PMID:29991799   PMID:30043421   PMID:30064409   PMID:30154342   PMID:30160829   PMID:30226972   PMID:30381765   PMID:30565694  
PMID:30635042   PMID:30648916   PMID:30755670   PMID:30898150   PMID:30945288   PMID:30975452   PMID:30999937   PMID:31028457   PMID:31099911   PMID:31111620   PMID:31169147   PMID:31231851  
PMID:31266816   PMID:31393349   PMID:31619201   PMID:31638167   PMID:31660579   PMID:31662319   PMID:31987043   PMID:32023888   PMID:32068339   PMID:32071398   PMID:32199932   PMID:32227640  
PMID:32384449   PMID:32413119   PMID:32460013   PMID:32668414   PMID:32682615   PMID:32721083   PMID:32753285   PMID:32814053   PMID:32822871   PMID:32989154   PMID:32998972   PMID:33051983  
PMID:33077920   PMID:33097695   PMID:33143664   PMID:33243261   PMID:33340121   PMID:33381388   PMID:33389251   PMID:33626078   PMID:33792960   PMID:33794187   PMID:33853673   PMID:33940034  
PMID:33961781   PMID:34153367   PMID:34160364   PMID:34666996   PMID:34753771   PMID:34906411   PMID:35013429   PMID:35303508   PMID:35384245   PMID:35384983   PMID:35527416   PMID:35594860  
PMID:35616216   PMID:35858182   PMID:35858936   PMID:35950895   PMID:35958598   PMID:35991125   PMID:36142417   PMID:36256257   PMID:36261652   PMID:36273937   PMID:36530080   PMID:36610398  
PMID:36675289   PMID:36736316   PMID:36780330   PMID:36848372   PMID:36906071   PMID:36927233   PMID:36943397   PMID:37053347   PMID:37192015   PMID:37301098   PMID:37322357   PMID:37381732  
PMID:37433992   PMID:37666053   PMID:37768887   PMID:37774064   PMID:37777251   PMID:38084010   PMID:38196202   PMID:38244702   PMID:38411226   PMID:38503521   PMID:38677755   PMID:39161208  
PMID:40355756   PMID:40437099  


Genomics

Comparative Map Data
FGFR3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3841,793,293 - 1,808,867 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,793,286 - 1,808,873 (+)Ensemblhg38GRCh38
GRCh3741,795,020 - 1,810,594 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,765,421 - 1,780,396 (+)NCBIBuild 36Build 36hg18NCBI36
Build 3441,762,853 - 1,777,829NCBI
Celera41,707,555 - 1,723,113 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,725,137 - 1,753,471 (+)NCBIHuRef
CHM1_141,792,977 - 1,808,551 (+)NCBICHM1_1
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBIT2T-CHM13v2.0
Fgfr3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39533,879,068 - 33,894,412 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl533,879,018 - 33,894,412 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38533,721,724 - 33,737,068 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl533,721,674 - 33,737,068 (+)Ensemblmm10GRCm38
MGSCv37534,064,373 - 34,079,713 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36534,038,581 - 34,053,924 (+)NCBIMGSCv36mm8
Celera531,197,840 - 31,213,180 (+)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.83NCBI
Fgfr3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81481,211,800 - 81,227,215 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1481,211,800 - 81,227,209 (-)EnsemblGRCr8
mRatBN7.21476,987,242 - 77,002,671 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1476,987,993 - 77,003,341 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1481,439,608 - 81,454,998 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01482,680,217 - 82,695,599 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01479,125,523 - 79,140,901 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01482,272,322 - 82,287,739 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1482,273,070 - 82,287,706 (-)Ensemblrn6Rnor6.0
Rnor_5.01482,961,882 - 82,977,113 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41482,683,191 - 82,697,229 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1475,911,344 - 75,925,631 (-)NCBICelera
RGSC_v3.11482,685,581 - 82,699,620 (-)NCBI
Cytogenetic Map14q21NCBI
Fgfr3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555141,025,600 - 1,038,590 (+)Ensembl
ChiLan1.0NW_0049555141,030,244 - 1,038,590 (+)NCBIChiLan1.0ChiLan1.0
FGFR3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v232,123,500 - 2,139,072 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan142,060,383 - 2,075,946 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v041,933,172 - 1,948,742 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.141,843,780 - 1,858,635 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl41,843,774 - 1,861,692 (+)EnsemblpanPan2panpan1.1
FGFR3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1362,309,128 - 62,318,932 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl362,303,756 - 62,323,896 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha364,826,871 - 64,841,704 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0362,784,572 - 62,799,405 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl362,783,114 - 62,800,195 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1362,278,095 - 62,292,924 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0362,481,623 - 62,496,456 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0362,840,834 - 62,855,656 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Fgfr3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528567,890,080 - 67,904,598 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647721,591,792 - 21,606,296 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647721,591,772 - 21,606,289 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGFR3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8879,159 - 894,964 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.18879,151 - 894,968 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28336,714 - 341,509 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FGFR3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12746,958,444 - 46,974,032 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2746,957,254 - 46,973,392 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660513,334,868 - 3,350,469 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fgfr3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475525,635,165 - 25,646,932 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462475525,633,690 - 25,647,361 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Fgfr3
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11171,102,760 - 71,117,463 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in FGFR3
1094 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu) single nucleotide variant Severe achondroplasia-developmental delay-acanthosis nigricans syndrome [RCV001526478]|not provided [RCV002241569] Chr4:1804464 [GRCh38]
Chr4:1806191 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1808G>A (p.Arg603Gln) single nucleotide variant not provided [RCV000520633] Chr4:1805912 [GRCh38]
Chr4:1807639 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.*5C>G single nucleotide variant FGFR3-related disorder [RCV004541605]|not provided [RCV001613336]|not specified [RCV000518755] Chr4:1807267 [GRCh38]
Chr4:1808994 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.967G>A (p.Val323Ile) single nucleotide variant FGFR3-related disorder [RCV004535678]|Inborn genetic diseases [RCV002525032]|not provided [RCV000517414] Chr4:1803728 [GRCh38]
Chr4:1805455 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.850del (p.His284fs) deletion Carcinoma of colon [RCV000017762] Chr4:1801942 [GRCh38]
Chr4:1803669 [GRCh37]
Chr4:4p16.3		 pathogenic|other
t(4;14)(p16.3;q32.3) translocation Multiple myeloma [RCV000017752] Chr4:4p16.3 pathogenic|other
FGFR3, LYS652GLN variation Hypochondroplasia [RCV000017759]|Bladder cancer, somatic [RCV000017760]|Malignant tumor of urinary bladder [RCV000017760] Chr4:4p16.3 pathogenic|other
NM_000142.5(FGFR3):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV000722190] Chr4:1793937 [GRCh38]
Chr4:1795664 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) single nucleotide variant not provided [RCV001692174]|not specified [RCV000732120] Chr4:1806558 [GRCh38]
Chr4:1808285 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1366G>A (p.Glu456Lys) single nucleotide variant not provided [RCV000723250] Chr4:1804923 [GRCh38]
Chr4:1806650 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1960-7C>T single nucleotide variant Achondroplasia [RCV002506338]|not provided [RCV002232282] Chr4:1806250 [GRCh38]
Chr4:1807977 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.771G>A (p.Ala257=) single nucleotide variant not provided [RCV000711640] Chr4:1801866 [GRCh38]
Chr4:1803593 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1000G>A (p.Ala334Thr) single nucleotide variant Variant of unknown significance [RCV000022552] Chr4:1803761 [GRCh38]
Chr4:1805488 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) single nucleotide variant Achondroplasia [RCV000017724]|Achondroplasia [RCV000763121]|Achondroplasia [RCV005209487]|Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV003227605]|Connective tissue disorder [RCV002276551]|Epidermal nevus [RCV000029207]|FGFR3-related disorder [RCV004545731]|Hypochondroplasia [RCV001807732]|Inborn genetic diseases [RCV001266979]|Muenke syndrome [RCV004798732]|Severe achondroplasia-developmental delay-acanthosis nigricans syndrome [RCV004783725]|not provided [RCV000255750] Chr4:1804392 [GRCh38]
Chr4:1806119 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) single nucleotide variant Achondroplasia [RCV000017725]|Achondroplasia [RCV004795424]|FGFR3-related disorder [RCV004532375]|Hypochondroplasia [RCV000987394]|not provided [RCV000727147] Chr4:1804392 [GRCh38]
Chr4:1806119 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) single nucleotide variant Craniosynostosis syndrome [RCV000194803]|Crouzon syndrome-acanthosis nigricans syndrome [RCV000017726]|Inborn genetic diseases [RCV000623005]|not provided [RCV000414319] Chr4:1804426 [GRCh38]
Chr4:1806153 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys) single nucleotide variant Achondroplasia [RCV000017727]|not provided [RCV002228031] Chr4:1804377 [GRCh38]
Chr4:1806104 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) single nucleotide variant Achondroplasia [RCV005031441]|FGFR3-related disorder [RCV004532376]|Multiple myeloma [RCV000017729]|See cases [RCV003155029]|Spermatocytic seminoma [RCV000017730]|Thanatophoric dysplasia [RCV003317039]|Thanatophoric dysplasia type 1 [RCV003234912]|Thanatophoric dysplasia, type 2 [RCV000017728]|not provided [RCV000255799] Chr4:1806162 [GRCh38]
Chr4:1807889 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|other
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) single nucleotide variant Achondroplasia [RCV000763118]|Achondroplasia [RCV001804739]|Achondroplasia [RCV005025063]|Cervical cancer [RCV001196297]|Connective tissue disorder [RCV002276552]|Epidermal nevus [RCV000017734]|FGFR3-related chondrodysplasia [RCV001849270]|FGFR3-related disorder [RCV002243648]|Hamartoma [RCV001526641]|Malignant tumor of urinary bladder [RCV003332082]|Muenke syndrome [RCV004798733]|Multiple myeloma [RCV000017732]|Seborrheic keratosis [RCV000017735]|See cases [RCV003155030]|Skeletal dysplasia [RCV000414822]|Skeletal dysplasia with acanthosis nigricans [RCV000017733]|Thanatophoric dysplasia type 1 [RCV000017731]|Thanatophoric dysplasia type 1 [RCV004795425]|Thanatophoric dysplasia, type 2 [RCV003388567]|not provided [RCV000327823] Chr4:1801837 [GRCh38]
Chr4:1803564 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) single nucleotide variant Thanatophoric dysplasia type 1 [RCV000017736]|not provided [RCV001528646]|not specified [RCV000757295] Chr4:1804365 [GRCh38]
Chr4:1806092 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) single nucleotide variant See cases [RCV003155031]|Thanatophoric dysplasia type 1 [RCV000017737]|not provided [RCV000493112] Chr4:1807260 [GRCh38]
Chr4:1808987 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) single nucleotide variant Achondroplasia [RCV002504801]|Thanatophoric dysplasia type 1 [RCV000017738]|not provided [RCV000520562] Chr4:1807260 [GRCh38]
Chr4:1808987 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) single nucleotide variant FGFR3-related disorder [RCV004528117]|See cases [RCV003155032]|Thanatophoric dysplasia type 1 [RCV000017739] Chr4:1807262 [GRCh38]
Chr4:1808989 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) single nucleotide variant Achondroplasia [RCV000353403]|FGFR3-related chondrodysplasia [RCV004786271]|FGFR3-related disorder [RCV004541008]|Hypochondroplasia [RCV000017740]|Neurodevelopmental delay [RCV002273932]|not provided [RCV000255928] Chr4:1805644 [GRCh38]
Chr4:1807371 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) single nucleotide variant Achondroplasia [RCV000763122]|Achondroplasia [RCV001332222]|Achondroplasia [RCV005411260]|Connective tissue disorder [RCV002276553]|FGFR3-related disorder [RCV004737156]|Hypochondroplasia [RCV000017741]|Inborn genetic diseases [RCV000622950]|Larsen syndrome [RCV001804740]|Short stature [RCV000415460]|not provided [RCV000255372] Chr4:1805644 [GRCh38]
Chr4:1807371 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) single nucleotide variant Achondroplasia [RCV000763119]|Achondroplasia [RCV003989294]|Cervical cancer [RCV000017743]|Connective tissue disorder [RCV002276554]|FGFR3-related disorder [RCV004532377]|Malignant tumor of urinary bladder [RCV000017744]|Seborrheic keratosis [RCV000017745]|See cases [RCV003155033]|Squamous cell lung carcinoma [RCV000420501]|Thanatophoric dysplasia type 1 [RCV000017742]|Thanatophoric dysplasia type 1 [RCV004795921]|not provided [RCV000297175] Chr4:1801841 [GRCh38]
Chr4:1803568 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|other
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) single nucleotide variant Abnormality of the nervous system [RCV001813993]|Achondroplasia [RCV001334261]|Achondroplasia [RCV003483434]|Achondroplasia [RCV005003375]|Craniosynostosis syndrome [RCV000193831]|Crouzon syndrome [RCV000626772]|FGFR3-related chondrodysplasia [RCV002273933]|FGFR3-related disorder [RCV004554603]|Hypochondroplasia [RCV000987393]|Inborn genetic diseases [RCV000622712]|Muenke syndrome [RCV000017746]|Saethre-Chotzen syndrome [RCV000017747]|not provided [RCV000436385]|not specified [RCV000121075] Chr4:1801844 [GRCh38]
Chr4:1803571 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|not provided
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) single nucleotide variant Achondroplasia [RCV002496392]|Hypochondroplasia [RCV002310592]|Severe achondroplasia-developmental delay-acanthosis nigricans syndrome [RCV004558267]|Thanatophoric dysplasia type 1 [RCV000017750]|not provided [RCV001574416] Chr4:1806163 [GRCh38]
Chr4:1807890 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) single nucleotide variant FGFR3-related disorder [RCV004737157]|See cases [RCV003155034]|Thanatophoric dysplasia type 1 [RCV000017751]|not provided [RCV000255235] Chr4:1804372 [GRCh38]
Chr4:1806099 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) single nucleotide variant Hypochondroplasia [RCV000017753]|not provided [RCV001549822] Chr4:1805643 [GRCh38]
Chr4:1807370 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) single nucleotide variant Hypochondroplasia [RCV000017754]|Muenke syndrome [RCV004798734]|not provided [RCV001269544] Chr4:1805636 [GRCh38]
Chr4:1807363 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) single nucleotide variant Hypochondroplasia [RCV000017755]|not provided [RCV003556038] Chr4:1806164 [GRCh38]
Chr4:1807891 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) single nucleotide variant Achondroplasia [RCV002496393]|Hypochondroplasia [RCV000017756]|not provided [RCV001269938] Chr4:1806164 [GRCh38]
Chr4:1807891 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) single nucleotide variant Hypochondroplasia [RCV000017757]|Malignant tumor of urinary bladder [RCV000144153]|not provided [RCV002228032] Chr4:1806162 [GRCh38]
Chr4:1807889 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) single nucleotide variant Achondroplasia [RCV002262566]|Hypochondroplasia [RCV000017758]|Inborn genetic diseases [RCV000623459]|Neurodevelopmental delay [RCV002273934]|not provided [RCV001269614] Chr4:1805643 [GRCh38]
Chr4:1807370 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys) single nucleotide variant Carcinoma of colon [RCV000017761] Chr4:1803725 [GRCh38]
Chr4:1805452 [GRCh37]
Chr4:4p16.3		 pathogenic|other
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) single nucleotide variant Lacrimoauriculodentodigital syndrome 2 [RCV004558268]|Levy-Hollister syndrome [RCV004786272]|not provided [RCV001580446]|not specified [RCV003226161] Chr4:1805561 [GRCh38]
Chr4:1807288 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) single nucleotide variant Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV000017765]|not provided [RCV002228033] Chr4:1806076 [GRCh38]
Chr4:1807803 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) single nucleotide variant Achondroplasia [RCV000017766]|Hypochondroplasia [RCV000017767]|not provided [RCV000730955] Chr4:1801930 [GRCh38]
Chr4:1803657 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) single nucleotide variant Hypochondroplasia [RCV000017768]|Short stature [RCV000415056]|not provided [RCV002513085] Chr4:1801928 [GRCh38]
Chr4:1803655 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) single nucleotide variant Achondroplasia [RCV000850610]|Achondroplasia [RCV001334259]|Hypochondroplasia [RCV000017769]|not provided [RCV002513086] Chr4:1799395 [GRCh38]
Chr4:1801122 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) single nucleotide variant Achondroplasia [RCV003989295]|Achondroplasia [RCV005025064]|Epidermal nevus [RCV000029208]|Thanatophoric dysplasia [RCV003493410]|Thanatophoric dysplasia type 1 [RCV000017770]|not provided [RCV000413645] Chr4:1804362 [GRCh38]
Chr4:1806089 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|other
NM_000142.5(FGFR3):c.344A>T (p.Gln115Leu) single nucleotide variant Hypochondroplasia [RCV000055715] Chr4:1799488 [GRCh38]
Chr4:1801215 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.791C>T (p.Thr264Met) single nucleotide variant not provided [RCV002237235] Chr4:1801886 [GRCh38]
Chr4:1803613 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) single nucleotide variant Hypochondroplasia [RCV000056066] Chr4:1803785 [GRCh38]
Chr4:1805512 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1142T>A (p.Val381Glu) single nucleotide variant Hypochondroplasia [RCV000056069] Chr4:1804396 [GRCh38]
Chr4:1806123 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) single nucleotide variant Achondroplasia [RCV000763123]|FGFR3-related chondrodysplasia [RCV004786329]|FGFR3-related disorder [RCV001254893]|Hypochondroplasia [RCV000056100]|not provided [RCV001543530] Chr4:1806163 [GRCh38]
Chr4:1807890 [GRCh37]
Chr4:4p16.3		 pathogenic|not provided
NM_000142.5(FGFR3):c.597C>T (p.His199=) single nucleotide variant Hypochondroplasia [RCV000056125] Chr4:1801518 [GRCh38]
Chr4:1803245 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.801G>T (p.Leu267=) single nucleotide variant Hypochondroplasia [RCV000056147] Chr4:1801896 [GRCh38]
Chr4:1803623 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.970C>G (p.Leu324Val) single nucleotide variant not provided [RCV002237247] Chr4:1803731 [GRCh38]
Chr4:1805458 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile) single nucleotide variant not provided [RCV001596949] Chr4:1803744 [GRCh38]
Chr4:1805471 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000050809] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3 copy number gain See cases [RCV000051564] Chr4:1196923..2487080 [GRCh38]
Chr4:1190711..2488807 [GRCh37]
Chr4:1180711..2458605 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 copy number loss See cases [RCV000051638] Chr4:56878..2213205 [GRCh38]
Chr4:56772..2214932 [GRCh37]
Chr4:46772..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] Chr4:72355..2108748 [GRCh38]
Chr4:72247..2110475 [GRCh37]
Chr4:62247..2080273 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 copy number loss See cases [RCV000051640] Chr4:72355..2400359 [GRCh38]
Chr4:72247..2402086 [GRCh37]
Chr4:62247..2371884 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] Chr4:72555..2009034 [GRCh38]
Chr4:72447..2010761 [GRCh37]
Chr4:62447..1980559 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 copy number loss See cases [RCV000051643] Chr4:72555..2325477 [GRCh38]
Chr4:72447..2327204 [GRCh37]
Chr4:62447..2297002 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 copy number loss See cases [RCV000053259] Chr4:85149..1919505 [GRCh38]
Chr4:85040..1921232 [GRCh37]
Chr4:75040..1891030 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 copy number loss See cases [RCV000053260] Chr4:85149..2008535 [GRCh38]
Chr4:85040..2010262 [GRCh37]
Chr4:75040..1980060 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 copy number loss See cases [RCV000053261] Chr4:336191..2213205 [GRCh38]
Chr4:507005..2214932 [GRCh37]
Chr4:319980..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
NM_000142.5(FGFR3):c.793G>A (p.Ala265Thr) single nucleotide variant not provided [RCV002237236] Chr4:1801888 [GRCh38]
Chr4:1803615 [GRCh37]
Chr4:1773413 [NCBI36]
Chr4:4p16.3		 uncertain significance|not provided
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg) single nucleotide variant Thanatophoric dysplasia [RCV003322750]|Thanatophoric dysplasia type 1 [RCV000055763] Chr4:1807260 [GRCh38]
Chr4:1808987 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|not provided
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) single nucleotide variant Achondroplasia [RCV002490635]|Thanatophoric dysplasia type 1 [RCV000055764]|not provided [RCV000478851] Chr4:1807261 [GRCh38]
Chr4:1808988 [GRCh37]
Chr4:4p16.3		 pathogenic|not provided
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) single nucleotide variant Thanatophoric dysplasia type 1 [RCV000055765]|not provided [RCV002298459] Chr4:1807262 [GRCh38]
Chr4:1808989 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) single nucleotide variant Achondroplasia [RCV004760363]|Thanatophoric dysplasia type 1 [RCV000055766]|not provided [RCV001569868] Chr4:1807262 [GRCh38]
Chr4:1808989 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.1887C>T (p.Asn629=) single nucleotide variant Sarcoma [RCV000119359]|not provided [RCV002514598] Chr4:1806101 [GRCh38]
Chr4:1807828 [GRCh37]
Chr4:4p16.3		 likely benign|not provided
NM_000142.5(FGFR3):c.1908C>G (p.Phe636Leu) single nucleotide variant Sarcoma [RCV000119360] Chr4:1806122 [GRCh38]
Chr4:1807849 [GRCh37]
Chr4:4p16.3		 not provided
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) single nucleotide variant Achondroplasia [RCV002483203]|Sarcoma [RCV000119361]|not provided [RCV001650977] Chr4:1806149 [GRCh38]
Chr4:1807876 [GRCh37]
Chr4:4p16.3		 benign|likely benign|not provided
NM_000142.5(FGFR3):c.2129G>T (p.Gly710Val) single nucleotide variant Ovarian neoplasm [RCV000119369] Chr4:1806644 [GRCh38]
Chr4:1808371 [GRCh37]
Chr4:4p16.3		 not provided
NM_000142.5(FGFR3):c.2135G>A (p.Arg712His) single nucleotide variant Sarcoma [RCV000119370] Chr4:1806650 [GRCh38]
Chr4:1808377 [GRCh37]
Chr4:4p16.3		 not provided
NM_000142.5(FGFR3):c.62C>A (p.Ser21Tyr) single nucleotide variant not specified [RCV000121068] Chr4:1793996 [GRCh38]
Chr4:1795723 [GRCh37]
Chr4:4p16.3		 not provided
NM_000142.5(FGFR3):c.184C>G (p.Pro62Ala) single nucleotide variant not provided [RCV002228408]|not specified [RCV000121069] Chr4:1799328 [GRCh38]
Chr4:1801055 [GRCh37]
Chr4:4p16.3		 likely benign|not provided
NM_000142.5(FGFR3):c.299C>G (p.Ser100Cys) single nucleotide variant not specified [RCV000121070] Chr4:1799443 [GRCh38]
Chr4:1801170 [GRCh37]
Chr4:4p16.3		 not provided
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) single nucleotide variant Inborn genetic diseases [RCV002517590]|not provided [RCV000641214]|not specified [RCV000121071] Chr4:1799274 [GRCh38]
Chr4:1801001 [GRCh37]
Chr4:4p16.3		 benign|likely benign|not provided
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) single nucleotide variant not provided [RCV001650979]|not specified [RCV000121072] Chr4:1799313 [GRCh38]
Chr4:1801040 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) single nucleotide variant not provided [RCV001668274]|not specified [RCV000121073] Chr4:1799337 [GRCh38]
Chr4:1801064 [GRCh37]
Chr4:4p16.3		 benign|likely benign|not provided
NM_000142.5(FGFR3):c.599G>T (p.Arg200Leu) single nucleotide variant not specified [RCV000121074] Chr4:1801520 [GRCh38]
Chr4:1803247 [GRCh37]
Chr4:4p16.3		 not provided
NM_000142.5(FGFR3):c.768G>T (p.Gln256His) single nucleotide variant not specified [RCV000121076] Chr4:1801863 [GRCh38]
Chr4:1803590 [GRCh37]
Chr4:4p16.3		 not provided
NM_000142.5(FGFR3):c.1031C>T (p.Ser344Phe) single nucleotide variant not provided [RCV002514638]|not specified [RCV000121077] Chr4:1803792 [GRCh38]
Chr4:1805519 [GRCh37]
Chr4:4p16.3		 uncertain significance|not provided
NM_000142.5(FGFR3):c.1262G>A (p.Arg421Gln) single nucleotide variant not provided [RCV002515869]|not specified [RCV000121078] Chr4:1804516 [GRCh38]
Chr4:1806243 [GRCh37]
Chr4:4p16.3		 uncertain significance|not provided
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) single nucleotide variant Achondroplasia [RCV002483215]|Connective tissue disorder [RCV002277184]|Hypochondroplasia [RCV000987395]|not provided [RCV000442867]|not specified [RCV000121079] Chr4:1804404 [GRCh38]
Chr4:1806131 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000142.5(FGFR3):c.1559C>T (p.Ser520Leu) single nucleotide variant not provided [RCV003764841]|not specified [RCV000121080] Chr4:1805583 [GRCh38]
Chr4:1807310 [GRCh37]
Chr4:4p16.3		 uncertain significance|not provided
NM_000142.5(FGFR3):c.1765C>G (p.Leu589Val) single nucleotide variant not provided [RCV003332123]|not specified [RCV000121081] Chr4:1805869 [GRCh38]
Chr4:1807596 [GRCh37]
Chr4:4p16.3		 uncertain significance|not provided
NM_000142.5(FGFR3):c.2152A>G (p.Asn718Asp) single nucleotide variant not provided [RCV003574713]|not specified [RCV000121082] Chr4:1806667 [GRCh38]
Chr4:1808394 [GRCh37]
Chr4:4p16.3		 uncertain significance|not provided
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) single nucleotide variant FGFR3-related disorder [RCV004530001]|not provided [RCV000419889]|not specified [RCV000121083] Chr4:1806664 [GRCh38]
Chr4:1808391 [GRCh37]
Chr4:4p16.3		 benign|likely benign|not provided
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) single nucleotide variant Connective tissue disorder [RCV002277185]|Hypochondroplasia [RCV000987396]|not provided [RCV000437628]|not specified [RCV000121084] Chr4:1804902 [GRCh38]
Chr4:1806629 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) single nucleotide variant not provided [RCV000755538]|not specified [RCV000121085] Chr4:1804906 [GRCh38]
Chr4:1806633 [GRCh37]
Chr4:4p16.3		 benign|likely benign|not provided
NM_000142.5(FGFR3):c.1486A>G (p.Lys496Glu) single nucleotide variant Inborn genetic diseases [RCV002514639]|not provided [RCV003556168]|not specified [RCV000121086] Chr4:1805428 [GRCh38]
Chr4:1807155 [GRCh37]
Chr4:4p16.3		 uncertain significance|not provided
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) single nucleotide variant Achondroplasia [RCV002492768]|Connective tissue disorder [RCV002277385]|not provided [RCV001573046]|not specified [RCV000176993] Chr4:1799492 [GRCh38]
Chr4:1801219 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.603T>C (p.Ile201=) single nucleotide variant not provided [RCV002228791]|not specified [RCV000178712] Chr4:1801524 [GRCh38]
Chr4:1803251 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.615+8C>G single nucleotide variant not provided [RCV001573806]|not specified [RCV000178713] Chr4:1801544 [GRCh38]
Chr4:1803271 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) single nucleotide variant Connective tissue disorder [RCV002277411]|not provided [RCV001573014]|not specified [RCV000178714] Chr4:1801509 [GRCh38]
Chr4:1803236 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) single nucleotide variant not provided [RCV001532499]|not specified [RCV000179257] Chr4:1801682 [GRCh38]
Chr4:1803409 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.343C>G (p.Gln115Glu) single nucleotide variant not provided [RCV001810591] Chr4:1799487 [GRCh38]
Chr4:1801214 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1078G>A (p.Glu360Lys) single nucleotide variant Inborn genetic diseases [RCV000190718]|not provided [RCV002514087] Chr4:1804332 [GRCh38]
Chr4:1806059 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1637C>A (p.Thr546Lys) single nucleotide variant Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV000144699] Chr4:1805661 [GRCh38]
Chr4:1807388 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) single nucleotide variant Inborn genetic diseases [RCV002516620]|not provided [RCV000174221] Chr4:1805574 [GRCh38]
Chr4:1807301 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3 copy number gain See cases [RCV000137955] Chr4:1723429..2286479 [GRCh38]
Chr4:1725156..2288206 [GRCh37]
Chr4:1694954..2258004 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 copy number loss See cases [RCV000141882] Chr4:68453..1997458 [GRCh38]
Chr4:68345..1999185 [GRCh37]
Chr4:58345..1968983 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 copy number loss See cases [RCV000143172] Chr4:36424..1956092 [GRCh38]
Chr4:36424..1957819 [GRCh37]
Chr4:26424..1927617 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1 copy number loss See cases [RCV000143548] Chr4:1699291..1973304 [GRCh38]
Chr4:1701018..1975031 [GRCh37]
Chr4:1670816..1944829 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3(chr4:1423130-2053191)x3 copy number gain See cases [RCV000143647] Chr4:1423130..2053191 [GRCh38]
Chr4:1416918..2054918 [GRCh37]
Chr4:1406918..2024716 [NCBI36]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000148263] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) single nucleotide variant Connective tissue disorder [RCV002277457]|not provided [RCV001532498]|not specified [RCV000192977] Chr4:1799760 [GRCh38]
Chr4:1801487 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1056G>A (p.Ala352=) single nucleotide variant not specified [RCV000193570] Chr4:1803817 [GRCh38]
Chr4:1805544 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) single nucleotide variant FGFR3-related disorder [RCV004537421]|not provided [RCV000176992] Chr4:1799396 [GRCh38]
Chr4:1801123 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1 copy number loss See cases [RCV000239816] Chr4:1190911..2255904 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207413]|Inborn genetic diseases [RCV002517390]|not provided [RCV000711636]|not specified [RCV004689678] Chr4:1806093 [GRCh38]
Chr4:1807820 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_000142.5(FGFR3):c.808G>A (p.Asp270Asn) single nucleotide variant not provided [RCV001719042] Chr4:1801903 [GRCh38]
Chr4:1803630 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.654G>C (p.Val218=) single nucleotide variant not provided [RCV001811048]|not specified [RCV000607545] Chr4:1801658 [GRCh38]
Chr4:1803385 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) single nucleotide variant Achondroplasia [RCV000765770]|FGFR3-related disorder [RCV004737898]|Inborn genetic diseases [RCV000623383]|not provided [RCV001591398] Chr4:1806668 [GRCh38]
Chr4:1808395 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.740-9C>T single nucleotide variant not provided [RCV000898665]|not specified [RCV000248439] Chr4:1801826 [GRCh38]
Chr4:1803553 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.882T>C (p.Asn294=) single nucleotide variant not provided [RCV000711641]|not specified [RCV000253435] Chr4:1801977 [GRCh38]
Chr4:1803704 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1075+5C>T single nucleotide variant Connective tissue disorder [RCV002277603]|not provided [RCV001573485]|not specified [RCV000243666] Chr4:1803841 [GRCh38]
Chr4:1805568 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=) single nucleotide variant not provided [RCV001573210]|not specified [RCV000251336] Chr4:1806865 [GRCh38]
Chr4:1808592 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1535-14C>T single nucleotide variant not provided [RCV002230198]|not specified [RCV000253750] Chr4:1805545 [GRCh38]
Chr4:1807272 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2168+12C>T single nucleotide variant not provided [RCV002230199]|not specified [RCV000246588] Chr4:1806695 [GRCh38]
Chr4:1808422 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.616-14G>T single nucleotide variant not provided [RCV003736675]|not specified [RCV000248981] Chr4:1801606 [GRCh38]
Chr4:1803333 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1076-16G>A single nucleotide variant not provided [RCV001723836]|not specified [RCV000251398] Chr4:1804314 [GRCh38]
Chr4:1806041 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.616-40T>C single nucleotide variant not provided [RCV000834204]|not specified [RCV000253945] Chr4:1801580 [GRCh38]
Chr4:1803307 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.2274+50C>T single nucleotide variant not specified [RCV000241789] Chr4:1806984 [GRCh38]
Chr4:1808711 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000142.5(FGFR3):c.1290C>T (p.Ser430=) single nucleotide variant Connective tissue disorder [RCV002277604]|not provided [RCV002229942]|not specified [RCV000249254] Chr4:1804847 [GRCh38]
Chr4:1806574 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1267-32C>T single nucleotide variant not provided [RCV001698661]|not specified [RCV000244501] Chr4:1804792 [GRCh38]
Chr4:1806519 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.445+3A>G single nucleotide variant not provided [RCV001573513]|not specified [RCV000244542] Chr4:1799815 [GRCh38]
Chr4:1801542 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1075+30G>C single nucleotide variant not provided [RCV001640469]|not specified [RCV000251882] Chr4:1803866 [GRCh38]
Chr4:1805593 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1332C>T (p.Ser444=) single nucleotide variant not specified [RCV000254465] Chr4:1804889 [GRCh38]
Chr4:1806616 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1959+8C>T single nucleotide variant not provided [RCV000530520]|not specified [RCV000242184] Chr4:1806181 [GRCh38]
Chr4:1807908 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1076-13C>T single nucleotide variant not provided [RCV001573757]|not specified [RCV000247216] Chr4:1804317 [GRCh38]
Chr4:1806044 [GRCh37]
Chr4:4p16.3		 benign|likely benign
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) single nucleotide variant not provided [RCV001579445]|not specified [RCV000247535] Chr4:1803775 [GRCh38]
Chr4:1805502 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.930+180G>A single nucleotide variant not provided [RCV001571295] Chr4:1802205 [GRCh38]
Chr4:1803932 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.417C>T (p.Asp139=) single nucleotide variant Connective tissue disorder [RCV002277606]|not provided [RCV000711639]|not specified [RCV000252545] Chr4:1799784 [GRCh38]
Chr4:1801511 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.894G>T (p.Val298=) single nucleotide variant not specified [RCV000245448] Chr4:1801989 [GRCh38]
Chr4:1803716 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000142.5(FGFR3):c.1959+22G>A single nucleotide variant not provided [RCV000834539]|not specified [RCV000250429] Chr4:1806195 [GRCh38]
Chr4:1807922 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1534+15G>T single nucleotide variant not provided [RCV002229943]|not specified [RCV000250628] Chr4:1805491 [GRCh38]
Chr4:1807218 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1227C>T (p.Pro409=) single nucleotide variant not provided [RCV001552294]|not specified [RCV000253142] Chr4:1804481 [GRCh38]
Chr4:1806208 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.616-6G>A single nucleotide variant Achondroplasia [RCV001334260]|not provided [RCV000960660]|not specified [RCV000245965] Chr4:1801614 [GRCh38]
Chr4:1803341 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1535-8G>T single nucleotide variant not provided [RCV001573249]|not specified [RCV000245969] Chr4:1805551 [GRCh38]
Chr4:1807278 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) single nucleotide variant not provided [RCV002229941]|not specified [RCV000248363] Chr4:1804477 [GRCh38]
Chr4:1806204 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1647G>T (p.Gly549=) single nucleotide variant Connective tissue disorder [RCV002277605]|not provided [RCV001812675]|not specified [RCV000250721] Chr4:1805751 [GRCh38]
Chr4:1807478 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.346C>T (p.Arg116Cys) single nucleotide variant not provided [RCV000275746] Chr4:1799490 [GRCh38]
Chr4:1801217 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) single nucleotide variant not provided [RCV000312239] Chr4:1805620 [GRCh38]
Chr4:1807347 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) single nucleotide variant Achondroplasia [RCV004796152]|Skeletal dysplasia [RCV000626771]|not provided [RCV000313050] Chr4:1801519 [GRCh38]
Chr4:1803246 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) single nucleotide variant not provided [RCV000725123]|not specified [RCV000318727] Chr4:1799416 [GRCh38]
Chr4:1801143 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) single nucleotide variant not provided [RCV000394407] Chr4:1799479 [GRCh38]
Chr4:1801206 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.2183G>A (p.Arg728Gln) single nucleotide variant Inborn genetic diseases [RCV002522014]|Muenke syndrome [RCV004786660]|not provided [RCV000323925] Chr4:1806843 [GRCh38]
Chr4:1808570 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.615+6C>T single nucleotide variant not provided [RCV000324844] Chr4:1801542 [GRCh38]
Chr4:1803269 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.712C>T (p.Arg238Trp) single nucleotide variant not provided [RCV000400387] Chr4:1801716 [GRCh38]
Chr4:1803443 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) single nucleotide variant not provided [RCV000366351] Chr4:1805439 [GRCh38]
Chr4:1807166 [GRCh37]
Chr4:4p16.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) single nucleotide variant not provided [RCV000726316]|not specified [RCV000367509] Chr4:1801670 [GRCh38]
Chr4:1803397 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.150C>T (p.Val50=) single nucleotide variant not provided [RCV000404567] Chr4:1799294 [GRCh38]
Chr4:1801021 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) single nucleotide variant not provided [RCV000268387] Chr4:1805934 [GRCh38]
Chr4:1807661 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1055C>T (p.Ala352Val) single nucleotide variant not provided [RCV000300830] Chr4:1803816 [GRCh38]
Chr4:1805543 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1436G>A (p.Gly479Glu) single nucleotide variant not provided [RCV003159373] Chr4:1805378 [GRCh38]
Chr4:1807105 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) single nucleotide variant not provided [RCV000595373] Chr4:1804517 [GRCh38]
Chr4:1806244 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.*204AG[1] microsatellite not provided [RCV002287981] Chr4:1807466..1807467 [GRCh38]
Chr4:1809193..1809194 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1108G>A (p.Gly370Ser) single nucleotide variant not provided [RCV003314111] Chr4:1804362 [GRCh38]
Chr4:1806089 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg) single nucleotide variant not provided [RCV002232281]|not specified [RCV000736059] Chr4:1799332 [GRCh38]
Chr4:1801059 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) single nucleotide variant FGFR3-related disorder [RCV004535836]|not provided [RCV000730490] Chr4:1803763 [GRCh38]
Chr4:1805490 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.990C>T (p.Thr330=) single nucleotide variant not provided [RCV001637073] Chr4:1803751 [GRCh38]
Chr4:1805478 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) single nucleotide variant Achondroplasia [RCV005027756]|not provided [RCV002233498] Chr4:1807135 [GRCh38]
Chr4:1808862 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.792G>A (p.Thr264=) single nucleotide variant not provided [RCV000585053]|not specified [RCV003994031] Chr4:1801887 [GRCh38]
Chr4:1803614 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) single nucleotide variant not provided [RCV000593058] Chr4:1806137 [GRCh38]
Chr4:1807864 [GRCh37]
Chr4:4p16.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.201T>C (p.Gly67=) single nucleotide variant not provided [RCV001722476] Chr4:1799345 [GRCh38]
Chr4:1801072 [GRCh37]
Chr4:4p16.3		 likely benign
NC_000004.12:g.1735761_1806926dup duplication Endometrial carcinoma [RCV000590652] Chr4:1735761..1806926 [GRCh38]
Chr4:1737488..1808653 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_000142.5(FGFR3):c.1099G>T (p.Asp367Tyr) single nucleotide variant not provided [RCV000523632] Chr4:1804353 [GRCh38]
Chr4:1806080 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu) single nucleotide variant FGFR3-related disorder [RCV004527700]|not provided [RCV002233499] Chr4:1801844 [GRCh38]
Chr4:1803571 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) single nucleotide variant Hepatoblastoma [RCV001843532]|not provided [RCV000592095]|not specified [RCV003488721] Chr4:1799302 [GRCh38]
Chr4:1801029 [GRCh37]
Chr4:4p16.3		 likely pathogenic|uncertain significance
NM_000142.5(FGFR3):c.2374dup (p.Asp792fs) duplication not specified [RCV000414572] Chr4:1807214..1807215 [GRCh38]
Chr4:1808941..1808942 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) single nucleotide variant Crouzon syndrome-acanthosis nigricans syndrome [RCV000415492]|not provided [RCV001764351] Chr4:1801743 [GRCh38]
Chr4:1803470 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.312C>T (p.Ser104=) single nucleotide variant not provided [RCV000559567] Chr4:1799456 [GRCh38]
Chr4:1801183 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe) single nucleotide variant not provided [RCV001576100] Chr4:1805837 [GRCh38]
Chr4:1807564 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) single nucleotide variant Achondroplasia [RCV000765769]|not provided [RCV002231794] Chr4:1806290 [GRCh38]
Chr4:1808017 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1052C>G (p.Ser351Cys) single nucleotide variant not provided [RCV000413031] Chr4:1803813 [GRCh38]
Chr4:1805540 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance
NM_000142.5(FGFR3):c.2201C>T (p.Ala734Val) single nucleotide variant not provided [RCV000729883] Chr4:1806861 [GRCh38]
Chr4:1808588 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1480A>G (p.Ile494Val) single nucleotide variant Craniosynostosis, nonspecific [RCV000415482]|not provided [RCV003565420] Chr4:1805422 [GRCh38]
Chr4:1807149 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) single nucleotide variant Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV004719036]|Craniosynostosis, nonspecific [RCV000415500]|not provided [RCV001574130] Chr4:1805642 [GRCh38]
Chr4:1807369 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance
NM_000142.5(FGFR3):c.1331C>G (p.Ser444Cys) single nucleotide variant Craniosynostosis, nonspecific [RCV000415512] Chr4:1804888 [GRCh38]
Chr4:1806615 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1229130-1852978)x3 copy number gain See cases [RCV000449380] Chr4:1229130..1852978 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1 copy number loss See cases [RCV000449467] Chr4:68345..2126308 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 copy number loss See cases [RCV000447208] Chr4:68345..2155022 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000142.5(FGFR3):c.389C>T (p.Ser130Phe) single nucleotide variant not provided [RCV000431217]|not specified [RCV004586713] Chr4:1799756 [GRCh38]
Chr4:1801483 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.573C>T (p.Asn191=) single nucleotide variant FGFR3-related disorder [RCV004539917]|Inborn genetic diseases [RCV005338163]|not provided [RCV000951514] Chr4:1801494 [GRCh38]
Chr4:1803221 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1953= (p.Thr651=) single nucleotide variant not provided [RCV002230010]|not specified [RCV000445200] Chr4:1806167 [GRCh38]
Chr4:1807894 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1205C>G (p.Pro402Arg) single nucleotide variant not provided [RCV001697787] Chr4:1804459 [GRCh38]
Chr4:1806186 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
NM_000142.5(FGFR3):c.-102-9C>T single nucleotide variant not provided [RCV001704520] Chr4:1793824 [GRCh38]
Chr4:1795551 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1645+17C>T single nucleotide variant not specified [RCV000438881] Chr4:1805686 [GRCh38]
Chr4:1807413 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1645+15G>A single nucleotide variant not provided [RCV001810933]|not specified [RCV000428754] Chr4:1805684 [GRCh38]
Chr4:1807411 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1943A>C (p.Tyr648Ser) single nucleotide variant Acanthosis nigricans [RCV000422706] Chr4:1806157 [GRCh38]
Chr4:1807884 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.-102-3T>C single nucleotide variant not provided [RCV004716421]|not specified [RCV000433043] Chr4:1793830 [GRCh38]
Chr4:1795557 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.2089G>T (p.Gly697Cys) single nucleotide variant Carcinoma [RCV000440614]|Urinary bladder carcinoma [RCV000417814] Chr4:1806604 [GRCh38]
Chr4:1808331 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) single nucleotide variant FGFR3-related disorder [RCV004530520]|not provided [RCV000733922]|not specified [RCV001000850] Chr4:1805761 [GRCh38]
Chr4:1807488 [GRCh37]
Chr4:4p16.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1943A>T (p.Tyr648Phe) single nucleotide variant Carcinoma [RCV000420182] Chr4:1806157 [GRCh38]
Chr4:1807884 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 copy number loss See cases [RCV000447910] Chr4:29214..1925508 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000142.5(FGFR3):c.2222T>C (p.Phe741Ser) single nucleotide variant not provided [RCV000523360] Chr4:1806882 [GRCh38]
Chr4:1808609 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2407_*5delinsCCCTG (p.Gly803_Ter807delinsProXaa) indel not provided [RCV000479750] Chr4:1807248..1807267 [GRCh38]
Chr4:1808975..1808994 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.1645+4G>C single nucleotide variant not provided [RCV002230983]|not specified [RCV000504535] Chr4:1805673 [GRCh38]
Chr4:1807400 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_000142.5(FGFR3):c.1675G>C (p.Ala559Pro) single nucleotide variant Inborn genetic diseases [RCV004023345]|not provided [RCV000497735] Chr4:1805779 [GRCh38]
Chr4:1807506 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.381C>T (p.Asp127=) single nucleotide variant not provided [RCV002524184]|not specified [RCV000502458] Chr4:1799748 [GRCh38]
Chr4:1801475 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.109G>A (p.Glu37Lys) single nucleotide variant not provided [RCV001755739]|not specified [RCV000500832] Chr4:1794043 [GRCh38]
Chr4:1795770 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.991T>C (p.Phe331Leu) single nucleotide variant Neuroblastoma [RCV000505685]|not provided [RCV003708535] Chr4:1803752 [GRCh38]
Chr4:1805479 [GRCh37]
Chr4:4p16.3		 uncertain significance|other
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:910410-1798461)x3 copy number gain See cases [RCV000510819] Chr4:910410..1798461 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1777904-2437290)x3 copy number gain See cases [RCV000510995] Chr4:1777904..2437290 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_000142.5(FGFR3):c.799C>G (p.Leu267Val) single nucleotide variant Inborn genetic diseases [RCV003295243] Chr4:1801894 [GRCh38]
Chr4:1803621 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1267-8C>T single nucleotide variant FGFR3-related disorder [RCV004537974]|not provided [RCV002231792] Chr4:1804816 [GRCh38]
Chr4:1806543 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.21C>T (p.Ala7=) single nucleotide variant not provided [RCV002528558]|not specified [RCV000600531] Chr4:1793955 [GRCh38]
Chr4:1795682 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) single nucleotide variant Lacrimoauriculodentodigital syndrome 2 [RCV004559335]|not provided [RCV004597852] Chr4:1806096 [GRCh38]
Chr4:1807823 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000142.5(FGFR3):c.1534+6G>C single nucleotide variant not provided [RCV002231793] Chr4:1805482 [GRCh38]
Chr4:1807209 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.739+16C>T single nucleotide variant not provided [RCV002232736]|not specified [RCV000607240] Chr4:1801759 [GRCh38]
Chr4:1803486 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.445+2_445+5del deletion Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV002464278]|not provided [RCV001537353] Chr4:1799811..1799814 [GRCh38]
Chr4:1801538..1801541 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1076-17C>T single nucleotide variant not provided [RCV001724083]|not specified [RCV000615265] Chr4:1804313 [GRCh38]
Chr4:1806040 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.2270C>G (p.Thr757Ser) single nucleotide variant not provided [RCV005056292]|not specified [RCV000605679] Chr4:1806930 [GRCh38]
Chr4:1808657 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.615+20T>C single nucleotide variant not provided [RCV005056288]|not specified [RCV000609777] Chr4:1801556 [GRCh38]
Chr4:1803283 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.616-15C>T single nucleotide variant not provided [RCV002233003]|not specified [RCV000612486] Chr4:1801605 [GRCh38]
Chr4:1803332 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.740-17G>A single nucleotide variant not provided [RCV001811097]|not specified [RCV000612569] Chr4:1801818 [GRCh38]
Chr4:1803545 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.615+11C>T single nucleotide variant not provided [RCV002529579]|not specified [RCV000615792] Chr4:1801547 [GRCh38]
Chr4:1803274 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1534+14G>T single nucleotide variant not provided [RCV002232584]|not specified [RCV000610150] Chr4:1805490 [GRCh38]
Chr4:1807217 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.379+18G>A single nucleotide variant not provided [RCV003558457]|not specified [RCV000610164] Chr4:1799541 [GRCh38]
Chr4:1801268 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1576A>G (p.Met526Val) single nucleotide variant not provided [RCV002528805]|not specified [RCV000613320] Chr4:1805600 [GRCh38]
Chr4:1807327 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=) single nucleotide variant FGFR3-related disorder [RCV004544780]|not provided [RCV001719036] Chr4:1806603 [GRCh38]
Chr4:1808330 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.426G>C (p.Glu142Asp) single nucleotide variant Inborn genetic diseases [RCV003277635] Chr4:1799793 [GRCh38]
Chr4:1801520 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.77G>A (p.Gly26Glu) single nucleotide variant not provided [RCV002231795] Chr4:1794011 [GRCh38]
Chr4:1795738 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.807C>T (p.Ser269=) single nucleotide variant not provided [RCV001591430]|not specified [RCV001796757] Chr4:1801902 [GRCh38]
Chr4:1803629 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1982T>C (p.Met661Thr) single nucleotide variant not provided [RCV003238969] Chr4:1806279 [GRCh38]
Chr4:1808006 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) single nucleotide variant not provided [RCV001724048]|not specified [RCV000601160] Chr4:1801667 [GRCh38]
Chr4:1803394 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.2249G>T (p.Arg750Leu) single nucleotide variant not specified [RCV000614867] Chr4:1806909 [GRCh38]
Chr4:1808636 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.931-640G>C single nucleotide variant not provided [RCV000512852] Chr4:1803052 [GRCh38]
Chr4:1804779 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1752G>A (p.Pro584=) single nucleotide variant FGFR3-related disorder [RCV004541594]|not provided [RCV000513068] Chr4:1805856 [GRCh38]
Chr4:1807583 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_000142.5(FGFR3):c.436_445+2del deletion not provided [RCV002233054] Chr4:1799793..1799804 [GRCh38]
Chr4:1801520..1801531 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1371C>T (p.Leu457=) single nucleotide variant FGFR3-related disorder [RCV004533352]|not provided [RCV001537082] Chr4:1804928 [GRCh38]
Chr4:1806655 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1535-20G>A single nucleotide variant not provided [RCV001811094]|not specified [RCV000601419] Chr4:1805539 [GRCh38]
Chr4:1807266 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1753C>T (p.Pro585Ser) single nucleotide variant Inborn genetic diseases [RCV002534267]|not provided [RCV000658045] Chr4:1805857 [GRCh38]
Chr4:1807584 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) single nucleotide variant Achondroplasia [RCV000765768]|FGFR3-related disorder [RCV004544915]|not provided [RCV000658073] Chr4:1799344 [GRCh38]
Chr4:1801071 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.931-634C>T single nucleotide variant not provided [RCV000658988] Chr4:1803058 [GRCh38]
Chr4:1804785 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1664T>A (p.Val555Glu) single nucleotide variant not provided [RCV000658989] Chr4:1805768 [GRCh38]
Chr4:1807495 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.585C>G (p.Phe195Leu) single nucleotide variant Inborn genetic diseases [RCV002538812]|not provided [RCV001760609] Chr4:1801506 [GRCh38]
Chr4:1803233 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1770486-2303110)x3 copy number gain not provided [RCV000682366] Chr4:1770486..2303110 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:1784694-1919793)x1 copy number loss not provided [RCV000682367] Chr4:1784694..1919793 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.930+10C>T single nucleotide variant not provided [RCV000711643] Chr4:1802035 [GRCh38]
Chr4:1803762 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.276_277delinsAT (p.Arg93Trp) indel not provided [RCV000710050] Chr4:1799420..1799421 [GRCh38]
Chr4:1801147..1801148 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.916G>A (p.Val306Ile) single nucleotide variant not provided [RCV002233700] Chr4:1802011 [GRCh38]
Chr4:1803738 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1181C>T (p.Thr394Met) single nucleotide variant Classic Hodgkin lymphoma [RCV002227942]|not provided [RCV002233675] Chr4:1804435 [GRCh38]
Chr4:1806162 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.2275-3C>T single nucleotide variant not provided [RCV002233282] Chr4:1807113 [GRCh38]
Chr4:1808840 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.2259C>T (p.Thr753=) single nucleotide variant not provided [RCV000711637] Chr4:1806919 [GRCh38]
Chr4:1808646 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) single nucleotide variant not provided [RCV000711638]|not specified [RCV005407914] Chr4:1807237 [GRCh38]
Chr4:1808964 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) single nucleotide variant not provided [RCV000711642] Chr4:1802007 [GRCh38]
Chr4:1803734 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) single nucleotide variant Achondroplasia [RCV000709871]|Inborn genetic diseases [RCV002532897]|not provided [RCV003558537]|not specified [RCV003479204] Chr4:1804888 [GRCh38]
Chr4:1806615 [GRCh37]
Chr4:4p16.3		 uncertain significance|not provided
NM_000142.5(FGFR3):c.518G>A (p.Arg173His) single nucleotide variant not provided [RCV002544807] Chr4:1801439 [GRCh38]
Chr4:1803166 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) single nucleotide variant Achondroplasia [RCV004796287]|not provided [RCV001567755] Chr4:1806302 [GRCh38]
Chr4:1808029 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1206C>A (p.Pro402=) single nucleotide variant not provided [RCV001565752] Chr4:1804460 [GRCh38]
Chr4:1806187 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1500754-2344692)x3 copy number gain not provided [RCV000743203] Chr4:1500754..2344692 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1742616-1801241)x4 copy number gain not provided [RCV000743210] Chr4:1742616..1801241 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:1742616-1816281)x3 copy number gain not provided [RCV000743211] Chr4:1742616..1816281 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:1809650-1865381)x1 copy number loss not provided [RCV000743212] Chr4:1809650..1865381 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1 copy number loss not provided [RCV000743153] Chr4:49450..2010397 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_000142.5(FGFR3):c.669C>T (p.Arg223=) single nucleotide variant FGFR3-related disorder [RCV004533598]|not provided [RCV000937771] Chr4:1801673 [GRCh38]
Chr4:1803400 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2066C>T (p.Thr689Met) single nucleotide variant not provided [RCV001532500] Chr4:1806581 [GRCh38]
Chr4:1808308 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.-102-18_-102-11del deletion not provided [RCV001612246] Chr4:1793813..1793820 [GRCh38]
Chr4:1795540..1795547 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1431C>T (p.Pro477=) single nucleotide variant not provided [RCV000917207] Chr4:1805373 [GRCh38]
Chr4:1807100 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.446-126C>T single nucleotide variant not provided [RCV001586396] Chr4:1801241 [GRCh38]
Chr4:1802968 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1247G>A (p.Arg416His) single nucleotide variant not provided [RCV003239037] Chr4:1804501 [GRCh38]
Chr4:1806228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.446-8G>T single nucleotide variant not provided [RCV000762131] Chr4:1801359 [GRCh38]
Chr4:1803086 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.445+78C>T single nucleotide variant not provided [RCV001576592] Chr4:1799890 [GRCh38]
Chr4:1801617 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) single nucleotide variant Hypochondroplasia [RCV000987392]|Inborn genetic diseases [RCV002549680]|not provided [RCV001572765] Chr4:1801435 [GRCh38]
Chr4:1803162 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.*138C>T single nucleotide variant not provided [RCV001565658] Chr4:1807400 [GRCh38]
Chr4:1809127 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.189G>A (p.Pro63=) single nucleotide variant FGFR3-related disorder [RCV004541992]|not provided [RCV001547475] Chr4:1799333 [GRCh38]
Chr4:1801060 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.-102-181G>A single nucleotide variant not provided [RCV001547590] Chr4:1793652 [GRCh38]
Chr4:1795379 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2412G>A (p.Ser804=) single nucleotide variant not provided [RCV001568917]|not specified [RCV005418936] Chr4:1807253 [GRCh38]
Chr4:1808980 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1551G>A (p.Lys517=) single nucleotide variant not provided [RCV000941982] Chr4:1805575 [GRCh38]
Chr4:1807302 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2331C>T (p.Thr777=) single nucleotide variant not provided [RCV002235771] Chr4:1807172 [GRCh38]
Chr4:1808899 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.921C>G (p.Thr307=) single nucleotide variant not provided [RCV000906343] Chr4:1802016 [GRCh38]
Chr4:1803743 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1476C>T (p.Ile492=) single nucleotide variant FGFR3-related disorder [RCV004543550]|not provided [RCV000946350] Chr4:1805418 [GRCh38]
Chr4:1807145 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.713G>A (p.Arg238Gln) single nucleotide variant FGFR3-related disorder [RCV004543621]|not provided [RCV001571365]|not specified [RCV004702541] Chr4:1801717 [GRCh38]
Chr4:1803444 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.933G>A (p.Thr311=) single nucleotide variant not provided [RCV000905354] Chr4:1803694 [GRCh38]
Chr4:1805421 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1719G>A (p.Pro573=) single nucleotide variant not provided [RCV002235753] Chr4:1805823 [GRCh38]
Chr4:1807550 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.129del (p.Gly44fs) deletion not provided [RCV002280402] Chr4:1799271 [GRCh38]
Chr4:1800998 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) single nucleotide variant Inborn genetic diseases [RCV004619484]|Muenke syndrome [RCV002283520]|not provided [RCV001576124] Chr4:1801671 [GRCh38]
Chr4:1803398 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance
NM_000142.5(FGFR3):c.1742C>T (p.Thr581Ile) single nucleotide variant not provided [RCV002240402] Chr4:1805846 [GRCh38]
Chr4:1807573 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2287C>T (p.Leu763=) single nucleotide variant Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV000770821] Chr4:1807128 [GRCh38]
Chr4:1808855 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.1899C>T (p.Ile633=) single nucleotide variant Craniosynostosis syndrome [RCV000919312] Chr4:1806113 [GRCh38]
Chr4:1807840 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=) single nucleotide variant not provided [RCV000945820] Chr4:1805775 [GRCh38]
Chr4:1807502 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1706C>T (p.Ala569Val) single nucleotide variant FGFR3-related disorder [RCV004536009]|not provided [RCV000983953] Chr4:1805810 [GRCh38]
Chr4:1807537 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2265G>A (p.Thr755=) single nucleotide variant Connective tissue disorder [RCV002279651]|not provided [RCV000942921] Chr4:1806925 [GRCh38]
Chr4:1808652 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1146C>T (p.Gly382=) single nucleotide variant FGFR3-related disorder [RCV004530997]|not provided [RCV000895734] Chr4:1804400 [GRCh38]
Chr4:1806127 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.615+6C>A single nucleotide variant FGFR3-related disorder [RCV004541750]|not provided [RCV001550828] Chr4:1801542 [GRCh38]
Chr4:1803269 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.513C>T (p.Thr171=) single nucleotide variant not provided [RCV002539247] Chr4:1801434 [GRCh38]
Chr4:1803161 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.963A>G (p.Leu321=) single nucleotide variant FGFR3-related disorder [RCV004541775]|not provided [RCV000879398] Chr4:1803724 [GRCh38]
Chr4:1805451 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1971C>T (p.Pro657=) single nucleotide variant not provided [RCV000880802] Chr4:1806268 [GRCh38]
Chr4:1807995 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2082G>A (p.Pro694=) single nucleotide variant not provided [RCV000878645] Chr4:1806597 [GRCh38]
Chr4:1808324 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1645+8C>T single nucleotide variant Connective tissue disorder [RCV002279682]|not provided [RCV002235882] Chr4:1805677 [GRCh38]
Chr4:1807404 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1356C>A (p.Ala452=) single nucleotide variant FGFR3-related disorder [RCV004538313]|not provided [RCV000872506] Chr4:1804913 [GRCh38]
Chr4:1806640 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:1305802-2460571) copy number loss 4p partial monosomy syndrome [RCV000767708] Chr4:1305802..2460571 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.445+158T>C single nucleotide variant not provided [RCV000831759] Chr4:1799970 [GRCh38]
Chr4:1801697 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.192C>T (p.Pro64=) single nucleotide variant not provided [RCV001585833]|not specified [RCV004800624] Chr4:1799336 [GRCh38]
Chr4:1801063 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2150C>T (p.Ala717Val) single nucleotide variant not provided [RCV002234297] Chr4:1806665 [GRCh38]
Chr4:1808392 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe) single nucleotide variant Hypochondroplasia [RCV001775150]|not provided [RCV002234974] Chr4:1803813 [GRCh38]
Chr4:1805540 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_000142.5(FGFR3):c.1413-16C>G single nucleotide variant not provided [RCV000837951] Chr4:1805339 [GRCh38]
Chr4:1807066 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1413-29A>G single nucleotide variant not provided [RCV000834487] Chr4:1805326 [GRCh38]
Chr4:1807053 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1645+9G>A single nucleotide variant not provided [RCV002235600] Chr4:1805678 [GRCh38]
Chr4:1807405 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.930+625G>A single nucleotide variant not provided [RCV000826676] Chr4:1802650 [GRCh38]
Chr4:1802650..1802651 [GRCh38]
Chr4:1804377 [GRCh37]
Chr4:1804377..1804378 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.4:c.1959+22G>A single nucleotide variant not provided [RCV000834539] Chr4:1807922 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1172C>T (p.Ala391Val) single nucleotide variant not provided [RCV000998207] Chr4:1804426 [GRCh38]
Chr4:1806153 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.-103+129C>A single nucleotide variant not provided [RCV000839912] Chr4:1793594 [GRCh38]
Chr4:1795321 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1646-4C>T single nucleotide variant not provided [RCV000991985]|not specified [RCV001819699] Chr4:1805746 [GRCh38]
Chr4:1807473 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1764G>A (p.Gln588=) single nucleotide variant not provided [RCV000941760] Chr4:1805868 [GRCh38]
Chr4:1807595 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.931-123G>A single nucleotide variant not provided [RCV000839913] Chr4:1803569 [GRCh38]
Chr4:1805296 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1412+138G>C single nucleotide variant not provided [RCV000839914] Chr4:1805107 [GRCh38]
Chr4:1806834 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) single nucleotide variant Achondroplasia [RCV002495104]|not provided [RCV002235308]|not specified [RCV004526032] Chr4:1807254 [GRCh38]
Chr4:1808981 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1320C>T (p.Ile440=) single nucleotide variant FGFR3-related disorder [RCV004541748]|not provided [RCV000875770] Chr4:1804877 [GRCh38]
Chr4:1806604 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.446-5C>T single nucleotide variant not provided [RCV002235924] Chr4:1801362 [GRCh38]
Chr4:1803089 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.4:c.616-40T>C single nucleotide variant not provided [RCV000834204] Chr4:1803307 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.930+72C>G single nucleotide variant not provided [RCV000834205]|not specified [RCV001000215] Chr4:1802097 [GRCh38]
Chr4:1803824 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.304G>A (p.Glu102Lys) single nucleotide variant not provided [RCV000960655] Chr4:1799448 [GRCh38]
Chr4:1801175 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1519G>A (p.Val507Met) single nucleotide variant Thanatophoric dysplasia type 1 [RCV000782367] Chr4:1805461 [GRCh38]
Chr4:1807188 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1845C>T (p.His615=) single nucleotide variant not provided [RCV000916360] Chr4:1806059 [GRCh38]
Chr4:1807786 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.616-18G>C single nucleotide variant not provided [RCV000827008] Chr4:1801602 [GRCh38]
Chr4:1803329 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.847C>T (p.Pro283Ser) single nucleotide variant Lacrimoauriculodentodigital syndrome 2 [RCV003315159] Chr4:1801942 [GRCh38]
Chr4:1803669 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.775C>T (p.Leu259=) single nucleotide variant Craniosynostosis syndrome [RCV000916662] Chr4:1801870 [GRCh38]
Chr4:1803597 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1674G>A (p.Ala558=) single nucleotide variant FGFR3-related disorder [RCV004542019]|not provided [RCV001571317] Chr4:1805778 [GRCh38]
Chr4:1807505 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1756G>A (p.Glu586Lys) single nucleotide variant not provided [RCV002236067]|not specified [RCV001002244] Chr4:1805860 [GRCh38]
Chr4:1807587 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) single nucleotide variant Achondroplasia [RCV002227915] Chr4:1804437 [GRCh38]
Chr4:1806164 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.2169-13G>A single nucleotide variant not provided [RCV001571958]|not specified [RCV001002632] Chr4:1806816 [GRCh38]
Chr4:1808543 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.127C>T (p.Pro43Ser) single nucleotide variant not provided [RCV004812880] Chr4:1799271 [GRCh38]
Chr4:1800998 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1960-16T>C single nucleotide variant Cervical cancer [RCV001198388] Chr4:1806241 [GRCh38]
Chr4:1807968 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1106C>T (p.Ala369Val) single nucleotide variant not provided [RCV002241214] Chr4:1804360 [GRCh38]
Chr4:1806087 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.-14C>T single nucleotide variant not specified [RCV004783562] Chr4:1793921 [GRCh38]
Chr4:1795648 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.2148C>T (p.Pro716=) single nucleotide variant FGFR3-related disorder [RCV004536019]|not provided [RCV000991986] Chr4:1806663 [GRCh38]
Chr4:1808390 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1646-3C>T single nucleotide variant not provided [RCV003105107] Chr4:1805747 [GRCh38]
Chr4:1807474 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1633_1634del (p.Cys545fs) deletion 46,XY disorder of sex development [RCV003126295] Chr4:1805657..1805658 [GRCh38]
Chr4:1807384..1807385 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.2360C>G (p.Ser787Cys) single nucleotide variant not provided [RCV001550452] Chr4:1807201 [GRCh38]
Chr4:1808928 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1076-43G>T single nucleotide variant not provided [RCV001569325] Chr4:1804287 [GRCh38]
Chr4:1806014 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1492C>T (p.Arg498Trp) single nucleotide variant Achondroplasia [RCV004762162]|not provided [RCV001573003] Chr4:1805434 [GRCh38]
Chr4:1807161 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.725C>T (p.Thr242Met) single nucleotide variant Inborn genetic diseases [RCV004039280]|not provided [RCV001547288] Chr4:1801729 [GRCh38]
Chr4:1803456 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1075+185G>A single nucleotide variant not provided [RCV001552318] Chr4:1804021 [GRCh38]
Chr4:1805748 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2314C>G (p.Pro772Ala) single nucleotide variant not provided [RCV003126951] Chr4:1807155 [GRCh38]
Chr4:1808882 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2272G>A (p.Asp758Asn) single nucleotide variant Inborn genetic diseases [RCV002568444]|not provided [RCV001567522] Chr4:1806932 [GRCh38]
Chr4:1808659 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.-103+141C>T single nucleotide variant not provided [RCV001657210] Chr4:1793606 [GRCh38]
Chr4:1795333 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.2249G>A (p.Arg750His) single nucleotide variant not provided [RCV001658760] Chr4:1806909 [GRCh38]
Chr4:1808636 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2207C>A (p.Ser736Tyr) single nucleotide variant not provided [RCV001555359] Chr4:1806867 [GRCh38]
Chr4:1808594 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.921C>T (p.Thr307=) single nucleotide variant FGFR3-related disorder [RCV004542063]|not provided [RCV001658944] Chr4:1802016 [GRCh38]
Chr4:1803743 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.43G>T (p.Ala15Ser) single nucleotide variant not provided [RCV001561661] Chr4:1793977 [GRCh38]
Chr4:1795704 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.937G>T (p.Gly313Cys) single nucleotide variant not provided [RCV001597520] Chr4:1803698 [GRCh38]
Chr4:1805425 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.109+297C>A single nucleotide variant not provided [RCV001586189] Chr4:1794340 [GRCh38]
Chr4:1796067 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.930+174T>C single nucleotide variant not provided [RCV001676584] Chr4:1802199 [GRCh38]
Chr4:1803926 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.490C>G (p.Leu164Val) single nucleotide variant not provided [RCV001573198] Chr4:1801411 [GRCh38]
Chr4:1803138 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.277C>T (p.Arg93Trp) single nucleotide variant not provided [RCV001573947] Chr4:1799421 [GRCh38]
Chr4:1801148 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.616-8C>T single nucleotide variant not provided [RCV000961508] Chr4:1801612 [GRCh38]
Chr4:1803339 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1644C>T (p.Gly548=) single nucleotide variant not provided [RCV000911015] Chr4:1805668 [GRCh38]
Chr4:1807395 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1404T>G (p.Ser468=) single nucleotide variant not provided [RCV000951515] Chr4:1804961 [GRCh38]
Chr4:1806688 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.109+174T>C single nucleotide variant not provided [RCV001539570] Chr4:1794217 [GRCh38]
Chr4:1795944 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1668G>A (p.Glu556=) single nucleotide variant not provided [RCV000974404] Chr4:1805772 [GRCh38]
Chr4:1807499 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile) single nucleotide variant not provided [RCV001726365]|not specified [RCV005408052] Chr4:1805455 [GRCh38]
Chr4:1807182 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.2316G>A (p.Pro772=) single nucleotide variant not provided [RCV000887544] Chr4:1807157 [GRCh38]
Chr4:1808884 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.660C>A (p.Pro220=) single nucleotide variant FGFR3-related disorder [RCV004538312]|not provided [RCV000872505] Chr4:1801664 [GRCh38]
Chr4:1803391 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1238A>G (p.Lys413Arg) single nucleotide variant not provided [RCV002241290] Chr4:1804492 [GRCh38]
Chr4:1806219 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) single nucleotide variant not provided [RCV000891037]|not specified [RCV001818668] Chr4:1803784 [GRCh38]
Chr4:1805511 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1878C>T (p.Thr626=) single nucleotide variant not provided [RCV000889192] Chr4:1806092 [GRCh38]
Chr4:1807819 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.154G>A (p.Gly52Ser) single nucleotide variant FGFR3-related disorder [RCV004541816]|not provided [RCV001548391] Chr4:1799298 [GRCh38]
Chr4:1801025 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2030+9C>T single nucleotide variant not provided [RCV000934251] Chr4:1806336 [GRCh38]
Chr4:1808063 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2418G>A (p.Thr806=) single nucleotide variant FGFR3-related disorder [RCV004541952]|not provided [RCV000912139] Chr4:1807259 [GRCh38]
Chr4:1808986 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.879G>C (p.Val293=) single nucleotide variant FGFR3-related disorder [RCV004533593]|not provided [RCV002235796] Chr4:1801974 [GRCh38]
Chr4:1803701 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.159C>T (p.Ser53=) single nucleotide variant FGFR3-related disorder [RCV004541824]|not provided [RCV000891011] Chr4:1799303 [GRCh38]
Chr4:1801030 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.726G>C (p.Thr242=) single nucleotide variant not provided [RCV000935469] Chr4:1801730 [GRCh38]
Chr4:1803457 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.380-101G>C single nucleotide variant not provided [RCV001572604] Chr4:1799646 [GRCh38]
Chr4:1801373 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.416A>T (p.Asp139Val) single nucleotide variant not provided [RCV003231971] Chr4:1799783 [GRCh38]
Chr4:1801510 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1900G>A (p.Ala634Thr) single nucleotide variant not provided [RCV001558293] Chr4:1806114 [GRCh38]
Chr4:1807841 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.110-218C>T single nucleotide variant not provided [RCV001558593] Chr4:1799036 [GRCh38]
Chr4:1800763 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1076-41G>C single nucleotide variant not provided [RCV001563537] Chr4:1804289 [GRCh38]
Chr4:1806016 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 copy number loss not provided [RCV002472653] Chr4:68346..2437290 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.2169-33G>A single nucleotide variant not provided [RCV001559384] Chr4:1806796 [GRCh38]
Chr4:1808523 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.*140TG[3] microsatellite not provided [RCV001559582] Chr4:1807401..1807412 [GRCh38]
Chr4:1809128..1809139 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.931-470C>T single nucleotide variant not provided [RCV001553346] Chr4:1803222 [GRCh38]
Chr4:1804949 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1285G>A (p.Ala429Thr) single nucleotide variant Inborn genetic diseases [RCV002539593]|not provided [RCV001658607] Chr4:1804842 [GRCh38]
Chr4:1806569 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1316G>A (p.Arg439His) single nucleotide variant not provided [RCV002254452] Chr4:1804873 [GRCh38]
Chr4:1806600 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2169-4G>A single nucleotide variant not provided [RCV001549607] Chr4:1806825 [GRCh38]
Chr4:1808552 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1266+64C>T single nucleotide variant not provided [RCV001555222] Chr4:1804584 [GRCh38]
Chr4:1806311 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2143A>G (p.Lys715Glu) single nucleotide variant not provided [RCV002473417] Chr4:1806658 [GRCh38]
Chr4:1808385 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1676C>T (p.Ala559Val) single nucleotide variant not provided [RCV001556290] Chr4:1805780 [GRCh38]
Chr4:1807507 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.885C>T (p.Gly295=) single nucleotide variant not provided [RCV001556475] Chr4:1801980 [GRCh38]
Chr4:1803707 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1289C>T (p.Ser430Phe) single nucleotide variant not provided [RCV002464957] Chr4:1804846 [GRCh38]
Chr4:1806573 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1142T>G (p.Val381Gly) single nucleotide variant not provided [RCV003106714] Chr4:1804396 [GRCh38]
Chr4:1806123 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000142.5(FGFR3):c.1646-17G>A single nucleotide variant not provided [RCV001723371]|not specified [RCV001727991] Chr4:1805733 [GRCh38]
Chr4:1807460 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.915C>T (p.Tyr305=) single nucleotide variant not provided [RCV001723467]|not specified [RCV005408988] Chr4:1802010 [GRCh38]
Chr4:1803737 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1701G>C (p.Leu567=) single nucleotide variant FGFR3-related disorder [RCV004542061]|not provided [RCV001653067] Chr4:1805805 [GRCh38]
Chr4:1807532 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1182G>A (p.Thr394=) single nucleotide variant not provided [RCV001594007] Chr4:1804436 [GRCh38]
Chr4:1806163 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) single nucleotide variant FGFR3-related disorder [RCV004536217]|not provided [RCV001586827] Chr4:1803746 [GRCh38]
Chr4:1805473 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.*184C>T single nucleotide variant not provided [RCV001715465] Chr4:1807446 [GRCh38]
Chr4:1809173 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1836+44C>T single nucleotide variant not provided [RCV001590895] Chr4:1805984 [GRCh38]
Chr4:1807711 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1075+168C>T single nucleotide variant not provided [RCV001596585] Chr4:1804004 [GRCh38]
Chr4:1805731 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000142.5(FGFR3):c.1837-3C>T single nucleotide variant Squamous cell lung carcinoma [RCV001250968] Chr4:1806048 [GRCh38]
Chr4:1807775 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.433G>A (p.Gly145Ser) single nucleotide variant not provided [RCV002240249] Chr4:1799800 [GRCh38]
Chr4:1801527 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2417C>T (p.Thr806Met) single nucleotide variant not provided [RCV005093023]|not specified [RCV001002305] Chr4:1807258 [GRCh38]
Chr4:1808985 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1075+236T>C single nucleotide variant not provided [RCV001691697] Chr4:1804072 [GRCh38]
Chr4:1805799 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1076-42G>C single nucleotide variant not provided [RCV001586875] Chr4:1804288 [GRCh38]
Chr4:1806015 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.370C>T (p.Arg124Trp) single nucleotide variant not provided [RCV001596912]|not specified [RCV002271663] Chr4:1799514 [GRCh38]
Chr4:1801241 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1076-34del deletion not provided [RCV001680520] Chr4:1804286 [GRCh38]
Chr4:1806013 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.*287C>T single nucleotide variant not provided [RCV001588231] Chr4:1807549 [GRCh38]
Chr4:1809276 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.*36A>G single nucleotide variant not provided [RCV001611794] Chr4:1807298 [GRCh38]
Chr4:1809025 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.534C>T (p.Ala178=) single nucleotide variant not provided [RCV001572471] Chr4:1801455 [GRCh38]
Chr4:1803182 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1379C>T (p.Pro460Leu) single nucleotide variant not provided [RCV001580560] Chr4:1804936 [GRCh38]
Chr4:1806663 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.109+26G>A single nucleotide variant not provided [RCV001560249]|not specified [RCV001001604] Chr4:1794069 [GRCh38]
Chr4:1795796 [GRCh37]
Chr4:4p16.3		 benign|likely benign
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000142.5(FGFR3):c.1190G>A (p.Arg397His) single nucleotide variant not provided [RCV002239342] Chr4:1804444 [GRCh38]
Chr4:1806171 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile) single nucleotide variant Achondroplasia [RCV002286827]|not provided [RCV002241477] Chr4:1803750 [GRCh38]
Chr4:1805477 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2169-5C>T single nucleotide variant not provided [RCV001253874] Chr4:1806824 [GRCh38]
Chr4:1808551 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1921_1922delinsAT (p.Asp641Ile) indel Hypochondroplasia [RCV001253711] Chr4:1806135..1806136 [GRCh38]
Chr4:1807862..1807863 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1606A>G (p.Lys536Glu) single nucleotide variant Achondroplasia [RCV001253746] Chr4:1805630 [GRCh38]
Chr4:1807357 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1266+25C>T single nucleotide variant Squamous cell lung carcinoma [RCV001250967]|not provided [RCV001724247] Chr4:1804545 [GRCh38]
Chr4:1806272 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu) single nucleotide variant Muenke syndrome [RCV004799416]|not provided [RCV003558767] Chr4:1799332 [GRCh38]
Chr4:1801059 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys) single nucleotide variant Muenke syndrome [RCV001252959] Chr4:1801438 [GRCh38]
Chr4:1803165 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.875A>T (p.Glu292Val) single nucleotide variant Pituitary stalk interruption syndrome [RCV001257280] Chr4:1801970 [GRCh38]
Chr4:1803697 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1953G>A (p.Thr651=) single nucleotide variant Squamous cell lung carcinoma [RCV001250950]|not provided [RCV002240649]|not specified [RCV001700695] Chr4:1806167 [GRCh38]
Chr4:1807894 [GRCh37]
Chr4:4p16.3		 benign|likely benign
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:1778534-1912732)x3 copy number gain not provided [RCV001258637] Chr4:1778534..1912732 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala) single nucleotide variant Thanatophoric dysplasia, type 2 [RCV004789500] Chr4:1799344 [GRCh38]
Chr4:1801071 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3 copy number gain See cases [RCV001263050] Chr4:1420948..1836794 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 copy number loss not provided [RCV001258634] Chr4:68345..2137211 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1922A>T (p.Asp641Val) single nucleotide variant Hypochondroplasia [RCV001262373] Chr4:1806136 [GRCh38]
Chr4:1807863 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.75G>A (p.Leu25=) single nucleotide variant FGFR3-related disorder [RCV004531067]|not provided [RCV001810703] Chr4:1794009 [GRCh38]
Chr4:1795736 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr) single nucleotide variant not provided [RCV001358144] Chr4:1803701 [GRCh38]
Chr4:1805428 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) single nucleotide variant Connective tissue disorder [RCV002276678]|FGFR3-related disorder [RCV004738226]|Thanatophoric dysplasia type 1 [RCV004796410]|not provided [RCV001664800] Chr4:1807261 [GRCh38]
Chr4:1808988 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1663G>C (p.Val555Leu) single nucleotide variant not provided [RCV001269575] Chr4:1805767 [GRCh38]
Chr4:1807494 [GRCh37]
Chr4:4p16.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000142.5(FGFR3):c.955_957del (p.Lys319del) deletion not provided [RCV002284825]|not specified [RCV004587339] Chr4:1803716..1803718 [GRCh38]
Chr4:1805443..1805445 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.416A>C (p.Asp139Ala) single nucleotide variant not provided [RCV001509228]|not specified [RCV004801027] Chr4:1799783 [GRCh38]
Chr4:1801510 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000004.11:g.(?_1619775)_(2181192_?)del deletion not provided [RCV001388563] Chr4:1619775..2181192 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.870C>T (p.His290=) single nucleotide variant FGFR3-related disorder [RCV004541981]|not provided [RCV001529422] Chr4:1801965 [GRCh38]
Chr4:1803692 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.930+218G>A single nucleotide variant not provided [RCV001665087] Chr4:1802243 [GRCh38]
Chr4:1803970 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_000142.5(FGFR3):c.1195C>T (p.Arg399Cys) single nucleotide variant Inborn genetic diseases [RCV002538541]|not provided [RCV001653137] Chr4:1804449 [GRCh38]
Chr4:1806176 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.685G>A (p.Val229Ile) single nucleotide variant FGFR3-related disorder [RCV004542043]|not provided [RCV001597538] Chr4:1801689 [GRCh38]
Chr4:1803416 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.109+309C>T single nucleotide variant not provided [RCV001688525] Chr4:1794352 [GRCh38]
Chr4:1796079 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.*140TG[8] microsatellite not provided [RCV001717459] Chr4:1807401..1807402 [GRCh38]
Chr4:1809128..1809129 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.329G>A (p.Arg110Gln) single nucleotide variant not provided [RCV001581768] Chr4:1799473 [GRCh38]
Chr4:1801200 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
NM_000142.5(FGFR3):c.1960-13C>T single nucleotide variant not provided [RCV001615449] Chr4:1806244 [GRCh38]
Chr4:1807971 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.847C>A (p.Pro283Thr) single nucleotide variant not provided [RCV001592158] Chr4:1801942 [GRCh38]
Chr4:1803669 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1076-34dup duplication not provided [RCV001541015] Chr4:1804285..1804286 [GRCh38]
Chr4:1806012..1806013 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala) single nucleotide variant Thanatophoric dysplasia type 1 [RCV001376025] Chr4:1806168 [GRCh38]
Chr4:1807895 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.303C>T (p.His101=) single nucleotide variant not provided [RCV002237215] Chr4:1799447 [GRCh38]
Chr4:1801174 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.380-9G>T single nucleotide variant not provided [RCV002237219] Chr4:1799738 [GRCh38]
Chr4:1801465 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.840C>T (p.Asp280=) single nucleotide variant not provided [RCV002237239] Chr4:1801935 [GRCh38]
Chr4:1803662 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.930+11G>A single nucleotide variant not provided [RCV002237243] Chr4:1802036 [GRCh38]
Chr4:1803763 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1629C>T (p.Gly543=) single nucleotide variant not provided [RCV002237275] Chr4:1805653 [GRCh38]
Chr4:1807380 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1640A>G (p.Gln547Arg) single nucleotide variant not provided [RCV002237277] Chr4:1805664 [GRCh38]
Chr4:1807391 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) single nucleotide variant Achondroplasia [RCV002505890]|Connective tissue disorder [RCV002277096]|not provided [RCV002237288] Chr4:1805931 [GRCh38]
Chr4:1807658 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1959+15G>C single nucleotide variant Achondroplasia [RCV002487031]|not provided [RCV002237294] Chr4:1806188 [GRCh38]
Chr4:1807915 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.2217C>G (p.Pro739=) single nucleotide variant FGFR3-related disorder [RCV004533989]|not provided [RCV002237307] Chr4:1806877 [GRCh38]
Chr4:1808604 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2249G>C (p.Arg750Pro) single nucleotide variant not provided [RCV002237308] Chr4:1806909 [GRCh38]
Chr4:1808636 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1304CAC[1] (p.Pro436del) microsatellite not provided [RCV003127000] Chr4:1804861..1804863 [GRCh38]
Chr4:1806588..1806590 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.172G>C (p.Glu58Gln) single nucleotide variant Autism spectrum disorder [RCV003128049] Chr4:1799316 [GRCh38]
Chr4:1801043 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV002236400] Chr4:1793937 [GRCh38]
Chr4:1795664 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.69G>A (p.Glu23=) single nucleotide variant not provided [RCV002236402] Chr4:1794003 [GRCh38]
Chr4:1795730 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.380-9G>A single nucleotide variant not provided [RCV002236410] Chr4:1799738 [GRCh38]
Chr4:1801465 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.501G>A (p.Pro167=) single nucleotide variant not provided [RCV002236416] Chr4:1801422 [GRCh38]
Chr4:1803149 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.746C>T (p.Ser249Phe) single nucleotide variant not provided [RCV002236423] Chr4:1801841 [GRCh38]
Chr4:1803568 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.903C>T (p.Asp301=) single nucleotide variant FGFR3-related disorder [RCV004533983]|not provided [RCV002236428] Chr4:1801998 [GRCh38]
Chr4:1803725 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1266+17A>G single nucleotide variant not provided [RCV002236438] Chr4:1804537 [GRCh38]
Chr4:1806264 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1279T>A (p.Ser427Thr) single nucleotide variant not provided [RCV002236440] Chr4:1804836 [GRCh38]
Chr4:1806563 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1647G>C (p.Gly549=) single nucleotide variant not provided [RCV002236447] Chr4:1805751 [GRCh38]
Chr4:1807478 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.30C>T (p.Leu10=) single nucleotide variant not provided [RCV002237207]|not specified [RCV005406409] Chr4:1793964 [GRCh38]
Chr4:1795691 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.87G>C (p.Gln29His) single nucleotide variant not provided [RCV002237208] Chr4:1794021 [GRCh38]
Chr4:1795748 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.116C>T (p.Pro39Leu) single nucleotide variant not provided [RCV002237210] Chr4:1799260 [GRCh38]
Chr4:1800987 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.449C>A (p.Ala150Asp) single nucleotide variant not provided [RCV002237225] Chr4:1801370 [GRCh38]
Chr4:1803097 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.456C>T (p.Tyr152=) single nucleotide variant not provided [RCV002237226] Chr4:1801377 [GRCh38]
Chr4:1803104 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.802G>T (p.Gly268Cys) single nucleotide variant not provided [RCV002237238] Chr4:1801897 [GRCh38]
Chr4:1803624 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.857A>T (p.Gln286Leu) single nucleotide variant not provided [RCV002237241] Chr4:1801952 [GRCh38]
Chr4:1803679 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1068G>A (p.Val356=) single nucleotide variant Connective tissue disorder [RCV002277095]|FGFR3-related disorder [RCV004533984]|not provided [RCV002237250]|not specified [RCV004782907] Chr4:1803829 [GRCh38]
Chr4:1805556 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1075+11CTG[7] microsatellite not provided [RCV002237251] Chr4:1803846..1803847 [GRCh38]
Chr4:1805573..1805574 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1505C>T (p.Pro502Leu) single nucleotide variant not provided [RCV002237265] Chr4:1805447 [GRCh38]
Chr4:1807174 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1535-14C>A single nucleotide variant not provided [RCV002237269] Chr4:1805545 [GRCh38]
Chr4:1807272 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1646-19G>A single nucleotide variant not provided [RCV002237281] Chr4:1805731 [GRCh38]
Chr4:1807458 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.651C>T (p.Ser217=) single nucleotide variant not provided [RCV002237230] Chr4:1801655 [GRCh38]
Chr4:1803382 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.653T>C (p.Val218Ala) single nucleotide variant not provided [RCV002237231] Chr4:1801657 [GRCh38]
Chr4:1803384 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1075+12T>C single nucleotide variant not provided [RCV002237252] Chr4:1803848 [GRCh38]
Chr4:1805575 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1306C>T (p.Pro436Ser) single nucleotide variant Inborn genetic diseases [RCV004047257]|not provided [RCV002237258] Chr4:1804863 [GRCh38]
Chr4:1806590 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1534+11G>A single nucleotide variant not provided [RCV002237267] Chr4:1805487 [GRCh38]
Chr4:1807214 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1535A>G (p.Asp512Gly) single nucleotide variant not provided [RCV002237270] Chr4:1805559 [GRCh38]
Chr4:1807286 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1584G>C (p.Met528Ile) single nucleotide variant not provided [RCV002237272]|not specified [RCV004770425] Chr4:1805608 [GRCh38]
Chr4:1807335 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1620C>T (p.Asn540=) single nucleotide variant not provided [RCV002237273] Chr4:1805644 [GRCh38]
Chr4:1807371 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1638G>T (p.Thr546=) single nucleotide variant not provided [RCV002237276] Chr4:1805662 [GRCh38]
Chr4:1807389 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1645+16_1645+24del deletion not provided [RCV002237279] Chr4:1805684..1805692 [GRCh38]
Chr4:1807411..1807419 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2031-17C>T single nucleotide variant not provided [RCV002237299] Chr4:1806529 [GRCh38]
Chr4:1808256 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2361C>T (p.Ser787=) single nucleotide variant not provided [RCV002237317] Chr4:1807202 [GRCh38]
Chr4:1808929 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) single nucleotide variant Achondroplasia [RCV002502055]|FGFR3-related disorder [RCV004555633] Chr4:1799328 [GRCh38]
Chr4:1801055 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.781G>A (p.Ala261Thr) single nucleotide variant not provided [RCV001763484] Chr4:1801876 [GRCh38]
Chr4:1803603 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) single nucleotide variant Achondroplasia [RCV002503212]|not provided [RCV001757019] Chr4:1804509 [GRCh38]
Chr4:1806236 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1276G>A (p.Glu426Lys) single nucleotide variant Inborn genetic diseases [RCV002540393]|not provided [RCV001767400] Chr4:1804833 [GRCh38]
Chr4:1806560 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2374G>A (p.Asp792Asn) single nucleotide variant Inborn genetic diseases [RCV004980643]|not provided [RCV001771080] Chr4:1807215 [GRCh38]
Chr4:1808942 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.932C>T (p.Thr311Met) single nucleotide variant not provided [RCV001733509] Chr4:1803693 [GRCh38]
Chr4:1805420 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1959+6C>T single nucleotide variant not provided [RCV003237506] Chr4:1806179 [GRCh38]
Chr4:1807906 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1450G>A (p.Gly484Ser) single nucleotide variant not provided [RCV001787671] Chr4:1805392 [GRCh38]
Chr4:1807119 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1618A>C (p.Asn540His) single nucleotide variant Short stature [RCV001785367] Chr4:1805642 [GRCh38]
Chr4:1807369 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.202_204delinsT (p.Pro68fs) indel not provided [RCV001773294] Chr4:1799346..1799348 [GRCh38]
Chr4:1801073..1801075 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2309del (p.Tyr770fs) deletion not provided [RCV001765373] Chr4:1807150 [GRCh38]
Chr4:1808877 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.43G>A (p.Ala15Thr) single nucleotide variant not provided [RCV001773929] Chr4:1793977 [GRCh38]
Chr4:1795704 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1838G>A (p.Cys613Tyr) single nucleotide variant not provided [RCV001767041] Chr4:1806052 [GRCh38]
Chr4:1807779 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2110_2126del (p.Phe704fs) deletion not provided [RCV001767157] Chr4:1806625..1806641 [GRCh38]
Chr4:1808352..1808368 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1675G>A (p.Ala559Thr) single nucleotide variant not provided [RCV001768705] Chr4:1805779 [GRCh38]
Chr4:1807506 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp) single nucleotide variant Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV003315262]|not provided [RCV001774702] Chr4:1799472 [GRCh38]
Chr4:1801199 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.965A>G (p.Glu322Gly) single nucleotide variant not provided [RCV001773288] Chr4:1803726 [GRCh38]
Chr4:1805453 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1829C>A (p.Ser610Tyr) single nucleotide variant Inborn genetic diseases [RCV003163920]|not provided [RCV001779831] Chr4:1805933 [GRCh38]
Chr4:1807660 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) single nucleotide variant Achondroplasia [RCV002489778]|not provided [RCV001767760] Chr4:1805571 [GRCh38]
Chr4:1807298 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn) single nucleotide variant Connective tissue disorder [RCV002276886]|not provided [RCV001769325] Chr4:1801711 [GRCh38]
Chr4:1803438 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.630G>A (p.Gln210=) single nucleotide variant not provided [RCV001774267] Chr4:1801634 [GRCh38]
Chr4:1803361 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1862G>T (p.Arg621Leu) single nucleotide variant not provided [RCV001768530] Chr4:1806076 [GRCh38]
Chr4:1807803 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1242C>G (p.Ile414Met) single nucleotide variant not provided [RCV001765616] Chr4:1804496 [GRCh38]
Chr4:1806223 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1921G>A (p.Asp641Asn) single nucleotide variant not provided [RCV001769219] Chr4:1806135 [GRCh38]
Chr4:1807862 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2337del (p.Ser780fs) deletion not provided [RCV001765907] Chr4:1807178 [GRCh38]
Chr4:1808905 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1646-11C>A single nucleotide variant not provided [RCV001773180] Chr4:1805739 [GRCh38]
Chr4:1807466 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.1144G>A (p.Gly382Ser) single nucleotide variant Achondroplasia [RCV001806350] Chr4:1804398 [GRCh38]
Chr4:1806125 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.468C>T (p.Pro156=) single nucleotide variant not provided [RCV001811769] Chr4:1801389 [GRCh38]
Chr4:1803116 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.740-18C>T single nucleotide variant not provided [RCV001795686] Chr4:1801817 [GRCh38]
Chr4:1803544 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.946A>G (p.Thr316Ala) single nucleotide variant not provided [RCV001795703] Chr4:1803707 [GRCh38]
Chr4:1805434 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.931-20G>A single nucleotide variant not provided [RCV001795707] Chr4:1803672 [GRCh38]
Chr4:1805399 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1836+11C>A single nucleotide variant not provided [RCV001795770] Chr4:1805951 [GRCh38]
Chr4:1807678 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.446-10C>T single nucleotide variant not provided [RCV001776834] Chr4:1801357 [GRCh38]
Chr4:1803084 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.779C>T (p.Pro260Leu) single nucleotide variant not provided [RCV001758100] Chr4:1801874 [GRCh38]
Chr4:1803601 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1315C>G (p.Arg439Gly) single nucleotide variant not provided [RCV001797465] Chr4:1804872 [GRCh38]
Chr4:1806599 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2349_2350del (p.Asp785fs) deletion FGFR3-related disorder [RCV004738365]|not provided [RCV001758192] Chr4:1807190..1807191 [GRCh38]
Chr4:1808917..1808918 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.245T>C (p.Val82Ala) single nucleotide variant not specified [RCV004799979] Chr4:1799389 [GRCh38]
Chr4:1801116 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys) single nucleotide variant Hypochondroplasia [RCV002052286]|not provided [RCV002550512] Chr4:1803804 [GRCh38]
Chr4:1805531 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|not provided
NM_000142.5(FGFR3):c.350T>C (p.Val117Ala) single nucleotide variant not provided [RCV002052384] Chr4:1799494 [GRCh38]
Chr4:1801221 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1646-10G>A single nucleotide variant not provided [RCV001843638] Chr4:1805740 [GRCh38]
Chr4:1807467 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2886413_?)del deletion Mucopolysaccharidosis type 1 [RCV001960721] Chr4:493125..2886413 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_493125)_(2065854_?)del deletion not provided [RCV001975185] Chr4:493125..2065854 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.67G>C (p.Glu23Gln) single nucleotide variant not provided [RCV002236401] Chr4:1794001 [GRCh38]
Chr4:1795728 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.72C>T (p.Ser24=) single nucleotide variant not provided [RCV002236403] Chr4:1794006 [GRCh38]
Chr4:1795733 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.179G>C (p.Ser60Thr) single nucleotide variant not provided [RCV002236404] Chr4:1799323 [GRCh38]
Chr4:1801050 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.371G>A (p.Arg124Gln) single nucleotide variant not provided [RCV002236407] Chr4:1799515 [GRCh38]
Chr4:1801242 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.418G>A (p.Glu140Lys) single nucleotide variant not provided [RCV002236412] Chr4:1799785 [GRCh38]
Chr4:1801512 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.684C>T (p.Cys228=) single nucleotide variant not provided [RCV002236420] Chr4:1801688 [GRCh38]
Chr4:1803415 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1189C>T (p.Arg397Cys) single nucleotide variant not provided [RCV002236437] Chr4:1804443 [GRCh38]
Chr4:1806170 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2274+8C>T single nucleotide variant not provided [RCV002236456] Chr4:1806942 [GRCh38]
Chr4:1808669 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) single nucleotide variant Hypochondroplasia [RCV002245545]|not provided [RCV002274252] Chr4:1805767 [GRCh38]
Chr4:1807494 [GRCh37]
Chr4:4p16.3		 likely pathogenic|uncertain significance
NM_000142.5(FGFR3):c.28C>T (p.Leu10Phe) single nucleotide variant not provided [RCV002237206] Chr4:1793962 [GRCh38]
Chr4:1795689 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.117G>A (p.Pro39=) single nucleotide variant not provided [RCV002237211] Chr4:1799261 [GRCh38]
Chr4:1800988 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.270G>T (p.Gly90=) single nucleotide variant not provided [RCV002237213] Chr4:1799414 [GRCh38]
Chr4:1801141 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.980A>G (p.His327Arg) single nucleotide variant not provided [RCV002237248] Chr4:1803741 [GRCh38]
Chr4:1805468 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1354G>T (p.Ala452Ser) single nucleotide variant not provided [RCV002237260] Chr4:1804911 [GRCh38]
Chr4:1806638 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1411C>T (p.Arg471Trp) single nucleotide variant not provided [RCV002237261] Chr4:1804968 [GRCh38]
Chr4:1806695 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1413-20C>T single nucleotide variant not provided [RCV002237263] Chr4:1805335 [GRCh38]
Chr4:1807062 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1534+7_1534+9del microsatellite not provided [RCV002237266]|not specified [RCV004690270] Chr4:1805479..1805481 [GRCh38]
Chr4:1807206..1807208 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1645+14C>T single nucleotide variant not provided [RCV002237278] Chr4:1805683 [GRCh38]
Chr4:1807410 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1646-11C>T single nucleotide variant not provided [RCV002237282] Chr4:1805739 [GRCh38]
Chr4:1807466 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1725G>A (p.Leu575=) single nucleotide variant not provided [RCV002237286] Chr4:1805829 [GRCh38]
Chr4:1807556 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1780C>T (p.Leu594=) single nucleotide variant not provided [RCV002237287] Chr4:1805884 [GRCh38]
Chr4:1807611 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1986G>A (p.Ala662=) single nucleotide variant not provided [RCV002237295] Chr4:1806283 [GRCh38]
Chr4:1808010 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2019C>T (p.His673=) single nucleotide variant not provided [RCV002237296] Chr4:1806316 [GRCh38]
Chr4:1808043 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=) single nucleotide variant not provided [RCV002237297]|not specified [RCV003403734] Chr4:1806325 [GRCh38]
Chr4:1808052 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.2169-6C>T single nucleotide variant not provided [RCV002237305] Chr4:1806823 [GRCh38]
Chr4:1808550 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.2333C>G (p.Pro778Arg) single nucleotide variant not provided [RCV002237312] Chr4:1807174 [GRCh38]
Chr4:1808901 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2342G>T (p.Ser781Ile) single nucleotide variant not provided [RCV002237314] Chr4:1807183 [GRCh38]
Chr4:1808910 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1560G>A (p.Ser520=) single nucleotide variant FGFR3-related disorder [RCV004533980]|not provided [RCV002226184]|not specified [RCV005419414] Chr4:1805584 [GRCh38]
Chr4:1807311 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1371C>G (p.Leu457=) single nucleotide variant not provided [RCV002210989] Chr4:1804928 [GRCh38]
Chr4:1806655 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.15C>A (p.Ala5=) single nucleotide variant not provided [RCV002237205] Chr4:1793949 [GRCh38]
Chr4:1795676 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.110-13A>G single nucleotide variant not provided [RCV002237209] Chr4:1799241 [GRCh38]
Chr4:1800968 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.205A>G (p.Met69Val) single nucleotide variant not provided [RCV002237212] Chr4:1799349 [GRCh38]
Chr4:1801076 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.342G>A (p.Thr114=) single nucleotide variant not provided [RCV002237217] Chr4:1799486 [GRCh38]
Chr4:1801213 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.349G>A (p.Val117Ile) single nucleotide variant not provided [RCV002237218] Chr4:1799493 [GRCh38]
Chr4:1801220 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.639G>A (p.Leu213=) single nucleotide variant not provided [RCV002237229] Chr4:1801643 [GRCh38]
Chr4:1803370 [GRCh37]
Chr4:4p16.3		 benign|conflicting interpretations of pathogenicity
NM_000142.5(FGFR3):c.739+12G>A single nucleotide variant not provided [RCV002237232] Chr4:1801755 [GRCh38]
Chr4:1803482 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.795G>A (p.Ala265=) single nucleotide variant not provided [RCV002237237] Chr4:1801890 [GRCh38]
Chr4:1803617 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.873G>A (p.Val291=) single nucleotide variant not provided [RCV002237242] Chr4:1801968 [GRCh38]
Chr4:1803695 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.930+12T>C single nucleotide variant not provided [RCV002237244] Chr4:1802037 [GRCh38]
Chr4:1803764 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.984C>T (p.Asn328=) single nucleotide variant not provided [RCV002237249] Chr4:1803745 [GRCh38]
Chr4:1805472 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1101C>T (p.Asp367=) single nucleotide variant not provided [RCV002237254] Chr4:1804355 [GRCh38]
Chr4:1806082 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1686C>T (p.Asn562=) single nucleotide variant not provided [RCV002237283] Chr4:1805790 [GRCh38]
Chr4:1807517 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1707G>A (p.Ala569=) single nucleotide variant not provided [RCV002237285] Chr4:1805811 [GRCh38]
Chr4:1807538 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1957A>G (p.Asn653Asp) single nucleotide variant FGFR3-related disorder [RCV004533987]|not provided [RCV002237291] Chr4:1806171 [GRCh38]
Chr4:1807898 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1959+7C>T single nucleotide variant not provided [RCV002237292] Chr4:1806180 [GRCh38]
Chr4:1807907 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2030+4C>T single nucleotide variant not provided [RCV002237298] Chr4:1806331 [GRCh38]
Chr4:1808058 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2031-15C>T single nucleotide variant not provided [RCV002237300] Chr4:1806531 [GRCh38]
Chr4:1808258 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.409G>A (p.Gly137Arg) single nucleotide variant FGFR3-related disorder [RCV004533981]|not provided [RCV002236411] Chr4:1799776 [GRCh38]
Chr4:1801503 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.445+11G>C single nucleotide variant not provided [RCV002236413] Chr4:1799823 [GRCh38]
Chr4:1801550 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.762C>A (p.Ile254=) single nucleotide variant not provided [RCV002236424] Chr4:1801857 [GRCh38]
Chr4:1803584 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.810C>T (p.Asp270=) single nucleotide variant not provided [RCV002236425] Chr4:1801905 [GRCh38]
Chr4:1803632 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.999C>T (p.Asp333=) single nucleotide variant not provided [RCV002236431] Chr4:1803760 [GRCh38]
Chr4:1805487 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) single nucleotide variant Achondroplasia [RCV002481042]|Inborn genetic diseases [RCV003101303]|not provided [RCV002236439]|not specified [RCV005406410] Chr4:1804824 [GRCh38]
Chr4:1806551 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1350G>A (p.Thr450=) single nucleotide variant not provided [RCV002236441] Chr4:1804907 [GRCh38]
Chr4:1806634 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2148C>G (p.Pro716=) single nucleotide variant not provided [RCV002236454] Chr4:1806663 [GRCh38]
Chr4:1808390 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2264C>T (p.Thr755Met) single nucleotide variant not provided [RCV002236455] Chr4:1806924 [GRCh38]
Chr4:1808651 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2312C>G (p.Ser771Cys) single nucleotide variant not provided [RCV002237310] Chr4:1807153 [GRCh38]
Chr4:1808880 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2339C>G (p.Ser780Cys) single nucleotide variant not provided [RCV002237313] Chr4:1807180 [GRCh38]
Chr4:1808907 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.377C>G (p.Thr126Arg) single nucleotide variant not provided [RCV002236408] Chr4:1799521 [GRCh38]
Chr4:1801248 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.615+12G>A single nucleotide variant not provided [RCV002236417] Chr4:1801548 [GRCh38]
Chr4:1803275 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.616-12G>A single nucleotide variant not provided [RCV002236419] Chr4:1801608 [GRCh38]
Chr4:1803335 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.811G>A (p.Val271Met) single nucleotide variant Connective tissue disorder [RCV002277094]|not provided [RCV002236426] Chr4:1801906 [GRCh38]
Chr4:1803633 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.824G>T (p.Cys275Phe) single nucleotide variant not provided [RCV002236427] Chr4:1801919 [GRCh38]
Chr4:1803646 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1413-9C>T single nucleotide variant not provided [RCV002236443] Chr4:1805346 [GRCh38]
Chr4:1807073 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.278G>A (p.Arg93Gln) single nucleotide variant not provided [RCV002237214] Chr4:1799422 [GRCh38]
Chr4:1801149 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.330G>T (p.Arg110=) single nucleotide variant not provided [RCV002237216] Chr4:1799474 [GRCh38]
Chr4:1801201 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.446-17C>T single nucleotide variant not provided [RCV002237223] Chr4:1801350 [GRCh38]
Chr4:1803077 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.739+17G>A single nucleotide variant not provided [RCV002237234] Chr4:1801760 [GRCh38]
Chr4:1803487 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.930+18C>T single nucleotide variant not provided [RCV002237245] Chr4:1802043 [GRCh38]
Chr4:1803770 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1284C>T (p.Asn428=) single nucleotide variant not provided [RCV002237256] Chr4:1804841 [GRCh38]
Chr4:1806568 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1645+19G>A single nucleotide variant not provided [RCV002237280] Chr4:1805688 [GRCh38]
Chr4:1807415 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1836+12G>A single nucleotide variant not provided [RCV002236448] Chr4:1805952 [GRCh38]
Chr4:1807679 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2126A>G (p.Glu709Gly) single nucleotide variant not provided [RCV002236453] Chr4:1806641 [GRCh38]
Chr4:1808368 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2387C>G (p.Pro796Arg) single nucleotide variant not provided [RCV002236458] Chr4:1807228 [GRCh38]
Chr4:1808955 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2215C>G (p.Pro739Ala) single nucleotide variant FGFR3-related disorder [RCV004529105]|not provided [RCV002237306] Chr4:1806875 [GRCh38]
Chr4:1808602 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2291C>T (p.Ser764Leu) single nucleotide variant not provided [RCV002237309] Chr4:1807132 [GRCh38]
Chr4:1808859 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2355C>T (p.Asp785=) single nucleotide variant Inborn genetic diseases [RCV004617014]|not provided [RCV002237315] Chr4:1807196 [GRCh38]
Chr4:1808923 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) single nucleotide variant Achondroplasia [RCV002481061]|not provided [RCV002254453] Chr4:1805822 [GRCh38]
Chr4:1807549 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.446-20A>G single nucleotide variant not provided [RCV002236414] Chr4:1801347 [GRCh38]
Chr4:1803074 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.732C>T (p.Asp244=) single nucleotide variant not provided [RCV002236422] Chr4:1801736 [GRCh38]
Chr4:1803463 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1017C>T (p.Cys339=) single nucleotide variant not provided [RCV002236432] Chr4:1803778 [GRCh38]
Chr4:1805505 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1837-18C>T single nucleotide variant not provided [RCV002236449] Chr4:1806033 [GRCh38]
Chr4:1807760 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2195A>T (p.His732Leu) single nucleotide variant not provided [RCV004777020] Chr4:1806855 [GRCh38]
Chr4:1808582 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2258C>T (p.Thr753Ile) single nucleotide variant not provided [RCV003109962] Chr4:1806918 [GRCh38]
Chr4:1808645 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(1795790_?)dup duplication not provided [RCV003119409] Chr4:1795662..1795790 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(1843544_?)del deletion not provided [RCV003119410] Chr4:493125..1843544 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1916C>T (p.Ala639Val) single nucleotide variant not provided [RCV003129405] Chr4:1806130 [GRCh38]
Chr4:1807857 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1085_1096del (p.Glu362_Glu365del) deletion not provided [RCV003129227] Chr4:1804334..1804345 [GRCh38]
Chr4:1806061..1806072 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.70T>A (p.Ser24Thr) single nucleotide variant not provided [RCV004778568] Chr4:1794004 [GRCh38]
Chr4:1795731 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.935C>T (p.Ala312Val) single nucleotide variant not provided [RCV003128908] Chr4:1803696 [GRCh38]
Chr4:1805423 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1339_1340delinsTT (p.Glu447Leu) indel not provided [RCV004778945] Chr4:1804896..1804897 [GRCh38]
Chr4:1806623..1806624 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1351C>A (p.Leu451Met) single nucleotide variant not provided [RCV002236442] Chr4:1804908 [GRCh38]
Chr4:1806635 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1498G>A (p.Ala500Thr) single nucleotide variant FGFR3-related disorder [RCV004533986]|not provided [RCV002236445] Chr4:1805440 [GRCh38]
Chr4:1807167 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1861C>T (p.Arg621Cys) single nucleotide variant not provided [RCV002236450] Chr4:1806075 [GRCh38]
Chr4:1807802 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.2035T>G (p.Ser679Ala) single nucleotide variant not provided [RCV002236451] Chr4:1806550 [GRCh38]
Chr4:1808277 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2049G>C (p.Leu683=) single nucleotide variant not provided [RCV002236452] Chr4:1806564 [GRCh38]
Chr4:1808291 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.386C>T (p.Pro129Leu) single nucleotide variant not provided [RCV002237220] Chr4:1799753 [GRCh38]
Chr4:1801480 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.446-4G>A single nucleotide variant not provided [RCV002237224] Chr4:1801363 [GRCh38]
Chr4:1803090 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.504C>T (p.Ala168=) single nucleotide variant FGFR3-related disorder [RCV004545259]|not provided [RCV002237227] Chr4:1801425 [GRCh38]
Chr4:1803152 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.739+15G>T single nucleotide variant not provided [RCV002237233] Chr4:1801758 [GRCh38]
Chr4:1803485 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.931-12C>T single nucleotide variant not provided [RCV002237246] Chr4:1803680 [GRCh38]
Chr4:1805407 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1102G>A (p.Glu368Lys) single nucleotide variant not provided [RCV002237255] Chr4:1804356 [GRCh38]
Chr4:1806083 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1309C>G (p.Leu437Val) single nucleotide variant not provided [RCV002237259] Chr4:1804866 [GRCh38]
Chr4:1806593 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1500C>A (p.Ala500=) single nucleotide variant not provided [RCV002237264] Chr4:1805442 [GRCh38]
Chr4:1807169 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1564C>T (p.Leu522=) single nucleotide variant not provided [RCV002237271] Chr4:1805588 [GRCh38]
Chr4:1807315 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1623G>A (p.Leu541=) single nucleotide variant not provided [RCV002237274] Chr4:1805647 [GRCh38]
Chr4:1807374 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1836+11C>T single nucleotide variant not provided [RCV002237289] Chr4:1805951 [GRCh38]
Chr4:1807678 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) single nucleotide variant Achondroplasia [RCV002496168]|not provided [RCV002237290] Chr4:1806160 [GRCh38]
Chr4:1807887 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1959+9G>A single nucleotide variant FGFR3-related disorder [RCV004533988]|not provided [RCV002237293] Chr4:1806182 [GRCh38]
Chr4:1807909 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2168+6T>G single nucleotide variant not provided [RCV002237302] Chr4:1806689 [GRCh38]
Chr4:1808416 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2168+18C>G single nucleotide variant not provided [RCV002237303] Chr4:1806701 [GRCh38]
Chr4:1808428 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2169-11C>T single nucleotide variant not provided [RCV002237304] Chr4:1806818 [GRCh38]
Chr4:1808545 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2318G>A (p.Gly773Asp) single nucleotide variant not provided [RCV002237311] Chr4:1807159 [GRCh38]
Chr4:1808886 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2356G>A (p.Asp786Asn) single nucleotide variant not provided [RCV002237316] Chr4:1807197 [GRCh38]
Chr4:1808924 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2385C>T (p.Pro795=) single nucleotide variant not provided [RCV002237318] Chr4:1807226 [GRCh38]
Chr4:1808953 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1121C>G (p.Ala374Gly) single nucleotide variant not provided [RCV002259520] Chr4:1804375 [GRCh38]
Chr4:1806102 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1412+10G>A single nucleotide variant not provided [RCV002237262] Chr4:1804979 [GRCh38]
Chr4:1806706 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1534+13C>T single nucleotide variant not provided [RCV002237268] Chr4:1805489 [GRCh38]
Chr4:1807216 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1690C>T (p.Arg564Trp) single nucleotide variant not provided [RCV002237284] Chr4:1805794 [GRCh38]
Chr4:1807521 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2164G>A (p.Asp722Asn) single nucleotide variant Inborn genetic diseases [RCV003089228]|not provided [RCV002237301] Chr4:1806679 [GRCh38]
Chr4:1808406 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.316G>A (p.Ala106Thr) single nucleotide variant not provided [RCV002236406] Chr4:1799460 [GRCh38]
Chr4:1801187 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.473G>A (p.Arg158Gln) single nucleotide variant Achondroplasia [RCV003989755]|FGFR3-related disorder [RCV004533982]|not provided [RCV002236415] Chr4:1801394 [GRCh38]
Chr4:1803121 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.945C>G (p.Asn315Lys) single nucleotide variant not provided [RCV002236429] Chr4:1803706 [GRCh38]
Chr4:1805433 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1141_1142delinsAA (p.Val381Lys) indel not provided [RCV002236436] Chr4:1804395..1804396 [GRCh38]
Chr4:1806122..1806123 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1283A>G (p.Asn428Ser) single nucleotide variant Inborn genetic diseases [RCV003101297]|not provided [RCV002227361] Chr4:1804840 [GRCh38]
Chr4:1806567 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1449C>T (p.Phe483=) single nucleotide variant FGFR3-related disorder [RCV004545261]|not provided [RCV002236444] Chr4:1805391 [GRCh38]
Chr4:1807118 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1608A>G (p.Lys536=) single nucleotide variant not provided [RCV002236446] Chr4:1805632 [GRCh38]
Chr4:1807359 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2397C>A (p.Pro799=) single nucleotide variant not provided [RCV002236459] Chr4:1807238 [GRCh38]
Chr4:1808965 [GRCh37]
Chr4:4p16.3		 likely benign
Single allele complex Heart, malformation of [RCV002280661] Chr4:68345..1870548 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.313G>A (p.Gly105Arg) single nucleotide variant not provided [RCV002236405] Chr4:1799457 [GRCh38]
Chr4:1801184 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.380-13C>T single nucleotide variant not provided [RCV002236409] Chr4:1799734 [GRCh38]
Chr4:1801461 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.616-19C>T single nucleotide variant not provided [RCV002236418] Chr4:1801601 [GRCh38]
Chr4:1803328 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.690G>A (p.Val230=) single nucleotide variant not provided [RCV002236421] Chr4:1801694 [GRCh38]
Chr4:1803421 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.951C>T (p.Thr317=) single nucleotide variant FGFR3-related disorder [RCV004545260]|not provided [RCV002236430] Chr4:1803712 [GRCh38]
Chr4:1805439 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1076-12A>G single nucleotide variant not provided [RCV002236433] Chr4:1804318 [GRCh38]
Chr4:1806045 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1077C>T (p.Ala359=) single nucleotide variant not provided [RCV002236434] Chr4:1804331 [GRCh38]
Chr4:1806058 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1137C>T (p.Tyr379=) single nucleotide variant not provided [RCV002236435] Chr4:1804391 [GRCh38]
Chr4:1806118 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1130T>G (p.Leu377Arg) single nucleotide variant not provided [RCV002231193] Chr4:1804384 [GRCh38]
Chr4:1806111 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2275-9C>T single nucleotide variant not provided [RCV002236457] Chr4:1807107 [GRCh38]
Chr4:1808834 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.391T>C (p.Ser131Pro) single nucleotide variant not provided [RCV002237221] Chr4:1799758 [GRCh38]
Chr4:1801485 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.402C>T (p.Asp134=) single nucleotide variant not provided [RCV002237222] Chr4:1799769 [GRCh38]
Chr4:1801496 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.560C>A (p.Ser187Tyr) single nucleotide variant not provided [RCV002237228] Chr4:1801481 [GRCh38]
Chr4:1803208 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.853A>G (p.Ile285Val) single nucleotide variant not provided [RCV002237240] Chr4:1801948 [GRCh38]
Chr4:1803675 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1075+19G>A single nucleotide variant not provided [RCV002237253] Chr4:1803855 [GRCh38]
Chr4:1805582 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1287G>A (p.Ala429=) single nucleotide variant FGFR3-related disorder [RCV004533985]|not provided [RCV002237257] Chr4:1804844 [GRCh38]
Chr4:1806571 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_000142.5(FGFR3):c.1524G>A (p.Lys508=) single nucleotide variant Connective tissue disorder [RCV002278733] Chr4:1805466 [GRCh38]
Chr4:1807193 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1048C>A (p.His350Asn) single nucleotide variant not provided [RCV002265299] Chr4:1803809 [GRCh38]
Chr4:1805536 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2327A>C (p.Asp776Ala) single nucleotide variant not provided [RCV002274594] Chr4:1807168 [GRCh38]
Chr4:1808895 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000142.5(FGFR3):c.1075+8C>T single nucleotide variant Connective tissue disorder [RCV002278730]|not provided [RCV003096276] Chr4:1803844 [GRCh38]
Chr4:1805571 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1691G>A (p.Arg564Gln) single nucleotide variant not provided [RCV002293919] Chr4:1805795 [GRCh38]
Chr4:1807522 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_000142.5(FGFR3):c.938G>A (p.Gly313Asp) single nucleotide variant not provided [RCV002269609] Chr4:1803699 [GRCh38]
Chr4:1805426 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NM_000142.5(FGFR3):c.1182G>T (p.Thr394=) single nucleotide variant Connective tissue disorder [RCV002278731]|FGFR3-related disorder [RCV004545277] Chr4:1804436 [GRCh38]
Chr4:1806163 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1474A>G (p.Ile492Val) single nucleotide variant not provided [RCV002283213] Chr4:1805416 [GRCh38]
Chr4:1807143 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2315C>T (p.Pro772Leu) single nucleotide variant not provided [RCV002285952] Chr4:1807156 [GRCh38]
Chr4:1808883 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1199G>T (p.Ser400Ile) single nucleotide variant Connective tissue disorder [RCV002278732] Chr4:1804453 [GRCh38]
Chr4:1806180 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 copy number gain not provided [RCV002473933] Chr4:963688..2913553 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.741G>A (p.Glu247=) single nucleotide variant not provided [RCV002681770] Chr4:1801836 [GRCh38]
Chr4:1803563 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_000142.5(FGFR3):c.1130T>C (p.Leu377Pro) single nucleotide variant not provided [RCV002469884] Chr4:1804384 [GRCh38]
Chr4:1806111 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3 copy number gain not provided [RCV002473490] Chr4:1180181..2009278 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1734046-1871531)x1 copy number loss not provided [RCV002473806] Chr4:1734046..1871531 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_000142.5(FGFR3):c.2036C>T (p.Ser679Phe) single nucleotide variant not provided [RCV002299768] Chr4:1806551 [GRCh38]
Chr4:1808278 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1135T>C (p.Tyr379His) single nucleotide variant not provided [RCV002300055] Chr4:1804389 [GRCh38]
Chr4:1806116 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1411dup (p.Arg471fs) duplication not specified [RCV002308511] Chr4:1804965..1804966 [GRCh38]
Chr4:1806692..1806693 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2214G>A (p.Arg738=) single nucleotide variant not provided [RCV003075186] Chr4:1806874 [GRCh38]
Chr4:1808601 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1614C>A (p.Ile538=) single nucleotide variant not provided [RCV002972657] Chr4:1805638 [GRCh38]
Chr4:1807365 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2004C>T (p.Asp668=) single nucleotide variant not provided [RCV002618801] Chr4:1806301 [GRCh38]
Chr4:1808028 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1494G>A (p.Arg498=) single nucleotide variant not provided [RCV003013946] Chr4:1805436 [GRCh38]
Chr4:1807163 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1959C>T (p.Asn653=) single nucleotide variant not provided [RCV002975227] Chr4:1806173 [GRCh38]
Chr4:1807900 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2220C>T (p.Thr740=) single nucleotide variant FGFR3-related disorder [RCV004738671]|not provided [RCV003076105] Chr4:1806880 [GRCh38]
Chr4:1808607 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.194G>T (p.Gly65Val) single nucleotide variant Inborn genetic diseases [RCV002861187]|not provided [RCV004721138] Chr4:1799338 [GRCh38]
Chr4:1801065 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1534+18del deletion not provided [RCV002751444] Chr4:1805494 [GRCh38]
Chr4:1807221 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1443C>T (p.Gly481=) single nucleotide variant not provided [RCV002993794] Chr4:1805385 [GRCh38]
Chr4:1807112 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.40G>A (p.Val14Met) single nucleotide variant not provided [RCV003032855] Chr4:1793974 [GRCh38]
Chr4:1795701 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1075+6G>A single nucleotide variant not provided [RCV002730903] Chr4:1803842 [GRCh38]
Chr4:1805569 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.739+19C>T single nucleotide variant not provided [RCV003073625] Chr4:1801762 [GRCh38]
Chr4:1803489 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1413-13C>T single nucleotide variant not provided [RCV002617384] Chr4:1805342 [GRCh38]
Chr4:1807069 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1535-13G>A single nucleotide variant not provided [RCV003074440] Chr4:1805546 [GRCh38]
Chr4:1807273 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.820C>T (p.His274Tyr) single nucleotide variant not provided [RCV002970726] Chr4:1801915 [GRCh38]
Chr4:1803642 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2168+13C>T single nucleotide variant not provided [RCV003076419] Chr4:1806696 [GRCh38]
Chr4:1808423 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1656C>T (p.Tyr552=) single nucleotide variant not provided [RCV002974869] Chr4:1805760 [GRCh38]
Chr4:1807487 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.189G>T (p.Pro63=) single nucleotide variant not provided [RCV002908136] Chr4:1799333 [GRCh38]
Chr4:1801060 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1518C>T (p.Ala506=) single nucleotide variant not provided [RCV002996550] Chr4:1805460 [GRCh38]
Chr4:1807187 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1148T>G (p.Phe383Cys) single nucleotide variant not provided [RCV002462360] Chr4:1804402 [GRCh38]
Chr4:1806129 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1960-15C>T single nucleotide variant not provided [RCV002947859] Chr4:1806242 [GRCh38]
Chr4:1807969 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.162G>A (p.Gly54=) single nucleotide variant not provided [RCV002996527] Chr4:1799306 [GRCh38]
Chr4:1801033 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.931-14CT[3] microsatellite not provided [RCV002904342] Chr4:1803678..1803679 [GRCh38]
Chr4:1805405..1805406 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1549A>C (p.Lys517Gln) single nucleotide variant Inborn genetic diseases [RCV002784726] Chr4:1805573 [GRCh38]
Chr4:1807300 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1964G>A (p.Arg655Gln) single nucleotide variant not provided [RCV002740303] Chr4:1806261 [GRCh38]
Chr4:1807988 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.495C>T (p.Ala165=) single nucleotide variant not provided [RCV002623220] Chr4:1801416 [GRCh38]
Chr4:1803143 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2222T>G (p.Phe741Cys) single nucleotide variant Inborn genetic diseases [RCV002692251] Chr4:1806882 [GRCh38]
Chr4:1808609 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1638G>A (p.Thr546=) single nucleotide variant not provided [RCV002927188] Chr4:1805662 [GRCh38]
Chr4:1807389 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2031-8C>T single nucleotide variant not provided [RCV002623007] Chr4:1806538 [GRCh38]
Chr4:1808265 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.936G>A (p.Ala312=) single nucleotide variant not provided [RCV002979740] Chr4:1803697 [GRCh38]
Chr4:1805424 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2168+14C>T single nucleotide variant not provided [RCV002571746] Chr4:1806697 [GRCh38]
Chr4:1808424 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.966G>A (p.Glu322=) single nucleotide variant not provided [RCV003053217] Chr4:1803727 [GRCh38]
Chr4:1805454 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.6C>T (p.Gly2=) single nucleotide variant not provided [RCV002619913] Chr4:1793940 [GRCh38]
Chr4:1795667 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.279G>A (p.Arg93=) single nucleotide variant not provided [RCV003019659] Chr4:1799423 [GRCh38]
Chr4:1801150 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1826C>T (p.Ala609Val) single nucleotide variant not provided [RCV002637449] Chr4:1805930 [GRCh38]
Chr4:1807657 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.615+8C>A single nucleotide variant not provided [RCV002909166] Chr4:1801544 [GRCh38]
Chr4:1803271 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1715C>T (p.Pro572Leu) single nucleotide variant not provided [RCV003078604] Chr4:1805819 [GRCh38]
Chr4:1807546 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.903C>G (p.Asp301Glu) single nucleotide variant Inborn genetic diseases [RCV002910606] Chr4:1801998 [GRCh38]
Chr4:1803725 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1201C>G (p.Pro401Ala) single nucleotide variant FGFR3-related disorder [RCV004738635]|not provided [RCV002923055] Chr4:1804455 [GRCh38]
Chr4:1806182 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2234T>A (p.Val745Glu) single nucleotide variant Inborn genetic diseases [RCV002978679] Chr4:1806894 [GRCh38]
Chr4:1808621 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.160G>A (p.Gly54Arg) single nucleotide variant FGFR3-related disorder [RCV004529172]|not provided [RCV002824496] Chr4:1799304 [GRCh38]
Chr4:1801031 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.900G>A (p.Pro300=) single nucleotide variant not provided [RCV002999174] Chr4:1801995 [GRCh38]
Chr4:1803722 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1248C>T (p.Arg416=) single nucleotide variant not provided [RCV003038585] Chr4:1804502 [GRCh38]
Chr4:1806229 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.13G>C (p.Ala5Pro) single nucleotide variant not provided [RCV002999630] Chr4:1793947 [GRCh38]
Chr4:1795674 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2274+7G>T single nucleotide variant not provided [RCV002847583] Chr4:1806941 [GRCh38]
Chr4:1808668 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1837-20_1837-9dup duplication not provided [RCV002913491] Chr4:1806030..1806031 [GRCh38]
Chr4:1807757..1807758 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.2302G>T (p.Glu768Ter) single nucleotide variant not provided [RCV002866419] Chr4:1807143 [GRCh38]
Chr4:1808870 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1534+5G>A single nucleotide variant Inborn genetic diseases [RCV002797949] Chr4:1805481 [GRCh38]
Chr4:1807208 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1738G>A (p.Asp580Asn) single nucleotide variant not provided [RCV002619311] Chr4:1805842 [GRCh38]
Chr4:1807569 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.944A>C (p.Asn315Thr) single nucleotide variant Inborn genetic diseases [RCV002888387]|not provided [RCV003575001] Chr4:1803705 [GRCh38]
Chr4:1805432 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1239G>C (p.Lys413Asn) single nucleotide variant not provided [RCV003052893]|not specified [RCV005059135] Chr4:1804493 [GRCh38]
Chr4:1806220 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2030+10C>T single nucleotide variant not provided [RCV003019785] Chr4:1806337 [GRCh38]
Chr4:1808064 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1412+18C>G single nucleotide variant not provided [RCV003023819] Chr4:1804987 [GRCh38]
Chr4:1806714 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.770C>T (p.Ala257Val) single nucleotide variant not provided [RCV002626207] Chr4:1801865 [GRCh38]
Chr4:1803592 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1865A>G (p.Asn622Ser) single nucleotide variant not provided [RCV003058064] Chr4:1806079 [GRCh38]
Chr4:1807806 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.145T>C (p.Leu49=) single nucleotide variant not provided [RCV002928542] Chr4:1799289 [GRCh38]
Chr4:1801016 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1186_1257del (p.Cys396_Leu419del) deletion not provided [RCV002711230] Chr4:1804435..1804506 [GRCh38]
Chr4:1806162..1806233 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.421G>A (p.Ala141Thr) single nucleotide variant Inborn genetic diseases [RCV002646572]|not provided [RCV002666528] Chr4:1799788 [GRCh38]
Chr4:1801515 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1075+11CTG[6] microsatellite not provided [RCV002890358] Chr4:1803846..1803847 [GRCh38]
Chr4:1805573..1805574 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1534G>A (p.Asp512Asn) single nucleotide variant Inborn genetic diseases [RCV002892151] Chr4:1805476 [GRCh38]
Chr4:1807203 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1038G>T (p.Gly346=) single nucleotide variant not provided [RCV002890169] Chr4:1803799 [GRCh38]
Chr4:1805526 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.719C>T (p.Thr240Met) single nucleotide variant not provided [RCV003084154] Chr4:1801723 [GRCh38]
Chr4:1803450 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1768A>G (p.Thr590Ala) single nucleotide variant Inborn genetic diseases [RCV002697444] Chr4:1805872 [GRCh38]
Chr4:1807599 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1986G>T (p.Ala662=) single nucleotide variant not provided [RCV002982791] Chr4:1806283 [GRCh38]
Chr4:1808010 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1266+15A>T single nucleotide variant not provided [RCV003025089] Chr4:1804535 [GRCh38]
Chr4:1806262 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.84G>A (p.Glu28=) single nucleotide variant FGFR3-related disorder [RCV004536581]|not provided [RCV003085653] Chr4:1794018 [GRCh38]
Chr4:1795745 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1082A>G (p.Glu361Gly) single nucleotide variant Inborn genetic diseases [RCV002787042] Chr4:1804336 [GRCh38]
Chr4:1806063 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1155G>A (p.Leu385=) single nucleotide variant not provided [RCV003058082] Chr4:1804409 [GRCh38]
Chr4:1806136 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1534+14G>C single nucleotide variant not provided [RCV002765466] Chr4:1805490 [GRCh38]
Chr4:1807217 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.990C>A (p.Thr330=) single nucleotide variant not provided [RCV002802065] Chr4:1803751 [GRCh38]
Chr4:1805478 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.748_749delinsAA (p.Pro250Lys) indel not provided [RCV002877526] Chr4:1801843..1801844 [GRCh38]
Chr4:1803570..1803571 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.959A>G (p.Glu320Gly) single nucleotide variant Inborn genetic diseases [RCV002718093] Chr4:1803720 [GRCh38]
Chr4:1805447 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1762C>G (p.Gln588Glu) single nucleotide variant not provided [RCV002720980] Chr4:1805866 [GRCh38]
Chr4:1807593 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1962C>G (p.Gly654=) single nucleotide variant not provided [RCV003090864] Chr4:1806259 [GRCh38]
Chr4:1807986 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys) single nucleotide variant Achondroplasia [RCV003404135]|not provided [RCV002651792] Chr4:1803792 [GRCh38]
Chr4:1805519 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|uncertain significance
NM_000142.5(FGFR3):c.1078G>C (p.Glu360Gln) single nucleotide variant not provided [RCV003060908] Chr4:1804332 [GRCh38]
Chr4:1806059 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2274+12C>T single nucleotide variant not provided [RCV003065177] Chr4:1806946 [GRCh38]
Chr4:1808673 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1663G>A (p.Val555Met) single nucleotide variant not provided [RCV002651793] Chr4:1805767 [GRCh38]
Chr4:1807494 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1428G>A (p.Lys476=) single nucleotide variant not provided [RCV003026538] Chr4:1805370 [GRCh38]
Chr4:1807097 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1726G>T (p.Asp576Tyr) single nucleotide variant not provided [RCV002649501] Chr4:1805830 [GRCh38]
Chr4:1807557 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1207A>G (p.Lys403Glu) single nucleotide variant Inborn genetic diseases [RCV003171008]|not provided [RCV003060257] Chr4:1804461 [GRCh38]
Chr4:1806188 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1411C>G (p.Arg471Gly) single nucleotide variant not provided [RCV003088142] Chr4:1804968 [GRCh38]
Chr4:1806695 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.382G>A (p.Ala128Thr) single nucleotide variant Inborn genetic diseases [RCV002702733]|not provided [RCV003708695] Chr4:1799749 [GRCh38]
Chr4:1801476 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1716C>A (p.Pro572=) single nucleotide variant not provided [RCV003086366] Chr4:1805820 [GRCh38]
Chr4:1807547 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1172C>G (p.Ala391Gly) single nucleotide variant not provided [RCV002857690] Chr4:1804426 [GRCh38]
Chr4:1806153 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.39C>G (p.Ala13=) single nucleotide variant not provided [RCV003047854] Chr4:1793973 [GRCh38]
Chr4:1795700 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1860C>T (p.Ala620=) single nucleotide variant FGFR3-related disorder [RCV004534160]|not provided [RCV002675516] Chr4:1806074 [GRCh38]
Chr4:1807801 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1960-20G>A single nucleotide variant not provided [RCV003064811] Chr4:1806237 [GRCh38]
Chr4:1807964 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1316G>T (p.Arg439Leu) single nucleotide variant not provided [RCV003029921] Chr4:1804873 [GRCh38]
Chr4:1806600 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1578G>A (p.Met526Ile) single nucleotide variant not provided [RCV002579197] Chr4:1805602 [GRCh38]
Chr4:1807329 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1466C>T (p.Ala489Val) single nucleotide variant not provided [RCV003048303] Chr4:1805408 [GRCh38]
Chr4:1807135 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1809G>C (p.Arg603=) single nucleotide variant not provided [RCV002578127] Chr4:1805913 [GRCh38]
Chr4:1807640 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.17G>A (p.Cys6Tyr) single nucleotide variant not provided [RCV003046660] Chr4:1793951 [GRCh38]
Chr4:1795678 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.931-5T>C single nucleotide variant not provided [RCV003091920] Chr4:1803687 [GRCh38]
Chr4:1805414 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.347G>A (p.Arg116His) single nucleotide variant not provided [RCV003068374] Chr4:1799491 [GRCh38]
Chr4:1801218 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.1362C>G (p.Val454=) single nucleotide variant not provided [RCV002603459] Chr4:1804919 [GRCh38]
Chr4:1806646 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1500C>T (p.Ala500=) single nucleotide variant not provided [RCV003049855] Chr4:1805442 [GRCh38]
Chr4:1807169 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1266+19C>G single nucleotide variant not provided [RCV002943717] Chr4:1804539 [GRCh38]
Chr4:1806266 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1680G>C (p.Lys560Asn) single nucleotide variant not provided [RCV002653657] Chr4:1805784 [GRCh38]
Chr4:1807511 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1050C>G (p.His350Gln) single nucleotide variant Inborn genetic diseases [RCV002724319] Chr4:1803811 [GRCh38]
Chr4:1805538 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1191C>T (p.Arg397=) single nucleotide variant not provided [RCV002582679] Chr4:1804445 [GRCh38]
Chr4:1806172 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.615+8C>T single nucleotide variant not provided [RCV002603060] Chr4:1801544 [GRCh38]
Chr4:1803271 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.616-10C>T single nucleotide variant not provided [RCV003049484] Chr4:1801610 [GRCh38]
Chr4:1803337 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2125G>A (p.Glu709Lys) single nucleotide variant not provided [RCV002725247] Chr4:1806640 [GRCh38]
Chr4:1808367 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.738G>A (p.Leu246=) single nucleotide variant not provided [RCV002608327] Chr4:1801742 [GRCh38]
Chr4:1803469 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.380-13C>G single nucleotide variant not provided [RCV002633680] Chr4:1799734 [GRCh38]
Chr4:1801461 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.930+19G>A single nucleotide variant not provided [RCV003067974] Chr4:1802044 [GRCh38]
Chr4:1803771 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1254G>A (p.Pro418=) single nucleotide variant FGFR3-related disorder [RCV004540517]|not provided [RCV003071082] Chr4:1804508 [GRCh38]
Chr4:1806235 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1107G>A (p.Ala369=) single nucleotide variant not provided [RCV003068125] Chr4:1804361 [GRCh38]
Chr4:1806088 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1347C>T (p.Pro449=) single nucleotide variant not provided [RCV003069480] Chr4:1804904 [GRCh38]
Chr4:1806631 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2362G>A (p.Val788Met) single nucleotide variant Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV004821330]|not provided [RCV002944082] Chr4:1807203 [GRCh38]
Chr4:1808930 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000142.5(FGFR3):c.2104G>A (p.Glu702Lys) single nucleotide variant not provided [RCV002606096] Chr4:1806619 [GRCh38]
Chr4:1808346 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.841G>A (p.Ala281Thr) single nucleotide variant not provided [RCV002611567] Chr4:1801936 [GRCh38]
Chr4:1803663 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1150T>A (p.Phe384Ile) single nucleotide variant not provided [RCV002589321] Chr4:1804404 [GRCh38]
Chr4:1806131 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2078C>T (p.Ser693Phe) single nucleotide variant FGFR3-related disorder [RCV004529155]|not provided [RCV002589571] Chr4:1806593 [GRCh38]
Chr4:1808320 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1280C>G (p.Ser427Cys) single nucleotide variant not provided [RCV002943232] Chr4:1804837 [GRCh38]
Chr4:1806564 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.673A>C (p.Asn225His) single nucleotide variant not provided [RCV004780935] Chr4:1801677 [GRCh38]
Chr4:1803404 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.565C>T (p.Leu189=) single nucleotide variant not provided [RCV003224056] Chr4:1801486 [GRCh38]
Chr4:1803213 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.977T>G (p.Leu326Trp) single nucleotide variant Hypochondroplasia [RCV003228715] Chr4:1803738 [GRCh38]
Chr4:1805465 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.1546G>C (p.Asp516His) single nucleotide variant FGFR3-related disorder [RCV004529614]|not provided [RCV003228359] Chr4:1805570 [GRCh38]
Chr4:1807297 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2302G>A (p.Glu768Lys) single nucleotide variant not provided [RCV003227277] Chr4:1807143 [GRCh38]
Chr4:1808870 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1915G>A (p.Ala639Thr) single nucleotide variant not provided [RCV003229145] Chr4:1806129 [GRCh38]
Chr4:1807856 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.914A>G (p.Tyr305Cys) single nucleotide variant not provided [RCV003147256] Chr4:1802009 [GRCh38]
Chr4:1803736 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.957G>C (p.Lys319Asn) single nucleotide variant not provided [RCV003147257] Chr4:1803718 [GRCh38]
Chr4:1805445 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.754C>T (p.Arg252Trp) single nucleotide variant not provided [RCV003147258] Chr4:1801849 [GRCh38]
Chr4:1803576 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1315C>T (p.Arg439Cys) single nucleotide variant not provided [RCV003147259] Chr4:1804872 [GRCh38]
Chr4:1806599 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.266T>C (p.Val89Ala) single nucleotide variant Inborn genetic diseases [RCV003205450] Chr4:1799410 [GRCh38]
Chr4:1801137 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.443_445+3delinsTAGGTG indel not provided [RCV003225343] Chr4:1799810..1799815 [GRCh38]
Chr4:1801537..1801542 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.256C>T (p.Arg86Cys) single nucleotide variant not provided [RCV003219040] Chr4:1799400 [GRCh38]
Chr4:1801127 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2334del (p.Ser779fs) deletion not specified [RCV003324306] Chr4:1807171 [GRCh38]
Chr4:1808898 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_000142.5(FGFR3):c.1544C>T (p.Thr515Ile) single nucleotide variant not provided [RCV003318891] Chr4:1805568 [GRCh38]
Chr4:1807295 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_000142.5(FGFR3):c.931-712G>C single nucleotide variant not specified [RCV003331677] Chr4:1802980 [GRCh38]
Chr4:1804707 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.599G>A (p.Arg200His) single nucleotide variant FGFR3-related disorder [RCV004531753] Chr4:1801520 [GRCh38]
Chr4:1803247 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1910G>A (p.Gly637Glu) single nucleotide variant Malignant tumor of urinary bladder [RCV003332978] Chr4:1806124 [GRCh38]
Chr4:1807851 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1196G>A (p.Arg399His) single nucleotide variant Malignant tumor of urinary bladder [RCV003332976] Chr4:1804450 [GRCh38]
Chr4:1806177 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.2089G>A (p.Gly697Ser) single nucleotide variant Malignant tumor of urinary bladder [RCV003332979] Chr4:1806604 [GRCh38]
Chr4:1808331 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.7G>A (p.Ala3Thr) single nucleotide variant Inborn genetic diseases [RCV003351904] Chr4:1793941 [GRCh38]
Chr4:1795668 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1 copy number loss not provided [RCV003485406] Chr4:68346..2681414 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1549A>G (p.Lys517Glu) single nucleotide variant not specified [RCV003479753] Chr4:1805573 [GRCh38]
Chr4:1807300 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1162C>T (p.Leu388=) single nucleotide variant not provided [RCV003691023] Chr4:1804416 [GRCh38]
Chr4:1806143 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1024G>A (p.Gly342Ser) single nucleotide variant not provided [RCV003686381] Chr4:1803785 [GRCh38]
Chr4:1805512 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.379+11G>C single nucleotide variant not provided [RCV003874042] Chr4:1799534 [GRCh38]
Chr4:1801261 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2245G>C (p.Asp749His) single nucleotide variant not provided [RCV003543656] Chr4:1806905 [GRCh38]
Chr4:1808632 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.805A>G (p.Ser269Gly) single nucleotide variant not provided [RCV003874814] Chr4:1801900 [GRCh38]
Chr4:1803627 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4 copy number gain not provided [RCV003485344] Chr4:1497034..2571696 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1075+95C>G single nucleotide variant Achondroplasia [RCV003444541]|Achondroplasia [RCV004780554]|Hypochondroplasia [RCV005254792] Chr4:1803931 [GRCh38]
Chr4:1805658 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_000142.5(FGFR3):c.1115T>C (p.Val372Ala) single nucleotide variant FGFR3-related disorder [RCV004528772] Chr4:1804369 [GRCh38]
Chr4:1806096 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_000142.5(FGFR3):c.2031-4G>A single nucleotide variant not specified [RCV003479752] Chr4:1806542 [GRCh38]
Chr4:1808269 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1316G>C (p.Arg439Pro) single nucleotide variant not specified [RCV003388429] Chr4:1804873 [GRCh38]
Chr4:1806600 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1630G>T (p.Ala544Ser) single nucleotide variant not specified [RCV003388537] Chr4:1805654 [GRCh38]
Chr4:1807381 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1697T>C (p.Phe566Ser) single nucleotide variant not provided [RCV003439209] Chr4:1805801 [GRCh38]
Chr4:1807528 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.687C>T (p.Val229=) single nucleotide variant not provided [RCV003434938] Chr4:1801691 [GRCh38]
Chr4:1803418 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.970C>T (p.Leu324Phe) single nucleotide variant FGFR3-related disorder [RCV004539005] Chr4:1803731 [GRCh38]
Chr4:1805458 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2394A>C (p.Pro798=) single nucleotide variant FGFR3-related disorder [RCV004536653] Chr4:1807235 [GRCh38]
Chr4:1808962 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.82G>A (p.Glu28Lys) single nucleotide variant not provided [RCV003457414] Chr4:1794016 [GRCh38]
Chr4:1795743 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.485A>T (p.Lys162Met) single nucleotide variant FGFR3-related disorder [RCV004528031] Chr4:1801406 [GRCh38]
Chr4:1803133 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2409C>T (p.Gly803=) single nucleotide variant FGFR3-related disorder [RCV004527863] Chr4:1807250 [GRCh38]
Chr4:1808977 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2295G>A (p.Ala765=) single nucleotide variant FGFR3-related disorder [RCV004538963] Chr4:1807136 [GRCh38]
Chr4:1808863 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.431C>G (p.Thr144Arg) single nucleotide variant not provided [RCV003830286] Chr4:1799798 [GRCh38]
Chr4:1801525 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2168+16G>T single nucleotide variant not provided [RCV003578348] Chr4:1806699 [GRCh38]
Chr4:1808426 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.280C>T (p.Leu94=) single nucleotide variant not provided [RCV003578384] Chr4:1799424 [GRCh38]
Chr4:1801151 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1827C>T (p.Ala609=) single nucleotide variant not provided [RCV003695843] Chr4:1805931 [GRCh38]
Chr4:1807658 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.445+6A>G single nucleotide variant not provided [RCV003696375] Chr4:1799818 [GRCh38]
Chr4:1801545 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1075+4C>T single nucleotide variant not provided [RCV003739911] Chr4:1803840 [GRCh38]
Chr4:1805567 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2200G>A (p.Ala734Thr) single nucleotide variant not provided [RCV003578589] Chr4:1806860 [GRCh38]
Chr4:1808587 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2169-4G>C single nucleotide variant not provided [RCV003662003] Chr4:1806825 [GRCh38]
Chr4:1808552 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1200C>T (p.Ser400=) single nucleotide variant not provided [RCV003692582] Chr4:1804454 [GRCh38]
Chr4:1806181 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1253C>T (p.Pro418Leu) single nucleotide variant not provided [RCV003487820] Chr4:1804507 [GRCh38]
Chr4:1806234 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.446-16G>A single nucleotide variant not provided [RCV003578375] Chr4:1801351 [GRCh38]
Chr4:1803078 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1645+16G>A single nucleotide variant not provided [RCV003662802] Chr4:1805685 [GRCh38]
Chr4:1807412 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.147G>A (p.Leu49=) single nucleotide variant not provided [RCV003576193] Chr4:1799291 [GRCh38]
Chr4:1801018 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1563C>T (p.Asp521=) single nucleotide variant not provided [RCV003545157] Chr4:1805587 [GRCh38]
Chr4:1807314 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1076-77_1076-16del deletion not provided [RCV003663391] Chr4:1804251..1804312 [GRCh38]
Chr4:1805978..1806039 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.918T>C (p.Val306=) single nucleotide variant not provided [RCV003687007] Chr4:1802013 [GRCh38]
Chr4:1803740 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2281C>T (p.Leu761=) single nucleotide variant not provided [RCV003578622] Chr4:1807122 [GRCh38]
Chr4:1808849 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.52G>A (p.Ala18Thr) single nucleotide variant not provided [RCV003738754] Chr4:1793986 [GRCh38]
Chr4:1795713 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.109+10G>C single nucleotide variant not provided [RCV003688687] Chr4:1794053 [GRCh38]
Chr4:1795780 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2372A>G (p.His791Arg) single nucleotide variant not provided [RCV003691526] Chr4:1807213 [GRCh38]
Chr4:1808940 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.556A>G (p.Ile186Val) single nucleotide variant not provided [RCV003577709] Chr4:1801477 [GRCh38]
Chr4:1803204 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795019)_(1795771_1800980)dup duplication not specified [RCV003489768] Chr4:1795019..1795771 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.192C>G (p.Pro64=) single nucleotide variant FGFR3-related disorder [RCV004536850]|not provided [RCV003546424] Chr4:1799336 [GRCh38]
Chr4:1801063 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1777_1778delinsTG (p.Asp593Cys) indel not provided [RCV003544543] Chr4:1805881..1805882 [GRCh38]
Chr4:1807608..1807609 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.436_445+2dup duplication not provided [RCV003877799] Chr4:1799792..1799793 [GRCh38]
Chr4:1801519..1801520 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.561C>T (p.Ser187=) single nucleotide variant not provided [RCV003662797] Chr4:1801482 [GRCh38]
Chr4:1803209 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2016_2017delinsCT (p.His673Tyr) indel not provided [RCV003544684] Chr4:1806313..1806314 [GRCh38]
Chr4:1808040..1808041 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1866T>G (p.Asn622Lys) single nucleotide variant not provided [RCV003716623] Chr4:1806080 [GRCh38]
Chr4:1807807 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1058G>A (p.Trp353Ter) single nucleotide variant not provided [RCV003686675] Chr4:1803819 [GRCh38]
Chr4:1805546 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1299C>T (p.Ser433=) single nucleotide variant not provided [RCV003717855] Chr4:1804856 [GRCh38]
Chr4:1806583 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.340A>C (p.Thr114Pro) single nucleotide variant not provided [RCV003579821] Chr4:1799484 [GRCh38]
Chr4:1801211 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2199C>T (p.Ala733=) single nucleotide variant not provided [RCV003579891] Chr4:1806859 [GRCh38]
Chr4:1808586 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1125C>A (p.Gly375=) single nucleotide variant not provided [RCV003549150] Chr4:1804379 [GRCh38]
Chr4:1806106 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.341C>T (p.Thr114Met) single nucleotide variant not provided [RCV003811858] Chr4:1799485 [GRCh38]
Chr4:1801212 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.180C>T (p.Ser60=) single nucleotide variant not provided [RCV003701254] Chr4:1799324 [GRCh38]
Chr4:1801051 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1960-9C>T single nucleotide variant not provided [RCV003579590] Chr4:1806248 [GRCh38]
Chr4:1807975 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1826C>G (p.Ala609Gly) single nucleotide variant not provided [RCV003550116] Chr4:1805930 [GRCh38]
Chr4:1807657 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.979C>T (p.His327Tyr) single nucleotide variant not provided [RCV003697584] Chr4:1803740 [GRCh38]
Chr4:1805467 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2297C>T (p.Pro766Leu) single nucleotide variant not provided [RCV003561808] Chr4:1807138 [GRCh38]
Chr4:1808865 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1572T>C (p.Ser524=) single nucleotide variant not provided [RCV003548833] Chr4:1805596 [GRCh38]
Chr4:1807323 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1251C>T (p.Phe417=) single nucleotide variant not provided [RCV003725243] Chr4:1804505 [GRCh38]
Chr4:1806232 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.110-67C>T single nucleotide variant not provided [RCV003740658] Chr4:1799187 [GRCh38]
Chr4:1800914 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1018C>T (p.Leu340=) single nucleotide variant not provided [RCV003816814] Chr4:1803779 [GRCh38]
Chr4:1805506 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1716C>T (p.Pro572=) single nucleotide variant not provided [RCV003814014] Chr4:1805820 [GRCh38]
Chr4:1807547 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.899C>T (p.Pro300Leu) single nucleotide variant not provided [RCV003559199] Chr4:1801994 [GRCh38]
Chr4:1803721 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1413G>A (p.Arg471=) single nucleotide variant not provided [RCV003816763] Chr4:1805355 [GRCh38]
Chr4:1807082 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.159C>A (p.Ser53Arg) single nucleotide variant not provided [RCV003814212] Chr4:1799303 [GRCh38]
Chr4:1801030 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1740C>T (p.Asp580=) single nucleotide variant not provided [RCV003548602] Chr4:1805844 [GRCh38]
Chr4:1807571 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.380-19G>A single nucleotide variant not provided [RCV003561661] Chr4:1799728 [GRCh38]
Chr4:1801455 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.446-14A>G single nucleotide variant not provided [RCV003817534] Chr4:1801353 [GRCh38]
Chr4:1803080 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2275-14C>T single nucleotide variant not provided [RCV003854424] Chr4:1807102 [GRCh38]
Chr4:1808829 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2369C>T (p.Ala790Val) single nucleotide variant not provided [RCV003666297] Chr4:1807210 [GRCh38]
Chr4:1808937 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.740-5C>T single nucleotide variant not provided [RCV003666274] Chr4:1801830 [GRCh38]
Chr4:1803557 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.51_59del (p.Ala18_Ala20del) deletion not provided [RCV003668972] Chr4:1793985..1793993 [GRCh38]
Chr4:1795712..1795720 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1924G>A (p.Val642Met) single nucleotide variant not provided [RCV003664839] Chr4:1806138 [GRCh38]
Chr4:1807865 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1746C>T (p.Cys582=) single nucleotide variant not provided [RCV003666917] Chr4:1805850 [GRCh38]
Chr4:1807577 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.2388G>A (p.Pro796=) single nucleotide variant not provided [RCV003559730] Chr4:1807229 [GRCh38]
Chr4:1808956 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2395C>T (p.Pro799Ser) single nucleotide variant not provided [RCV003667027] Chr4:1807236 [GRCh38]
Chr4:1808963 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1674G>C (p.Ala558=) single nucleotide variant not provided [RCV003724157] Chr4:1805778 [GRCh38]
Chr4:1807505 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1493G>A (p.Arg498Gln) single nucleotide variant not provided [RCV003558857] Chr4:1805435 [GRCh38]
Chr4:1807162 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.740-5C>G single nucleotide variant not provided [RCV003673157] Chr4:1801830 [GRCh38]
Chr4:1803557 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2292G>A (p.Ser764=) single nucleotide variant not provided [RCV003816662] Chr4:1807133 [GRCh38]
Chr4:1808860 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1116G>A (p.Val372=) single nucleotide variant not provided [RCV003666779] Chr4:1804370 [GRCh38]
Chr4:1806097 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.543C>T (p.Asn181=) single nucleotide variant not provided [RCV003549305] Chr4:1801464 [GRCh38]
Chr4:1803191 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1659G>A (p.Val553=) single nucleotide variant not provided [RCV003730583] Chr4:1805763 [GRCh38]
Chr4:1807490 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1960-8C>T single nucleotide variant not provided [RCV003731101] Chr4:1806249 [GRCh38]
Chr4:1807976 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2050C>T (p.Leu684Phe) single nucleotide variant not provided [RCV003818586] Chr4:1806565 [GRCh38]
Chr4:1808292 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.930+17A>T single nucleotide variant not provided [RCV003733671] Chr4:1802042 [GRCh38]
Chr4:1803769 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.379+7T>C single nucleotide variant not provided [RCV003729830] Chr4:1799530 [GRCh38]
Chr4:1801257 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1960-4C>T single nucleotide variant not provided [RCV003554277] Chr4:1806253 [GRCh38]
Chr4:1807980 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1075+6G>T single nucleotide variant not provided [RCV003736119] Chr4:1803842 [GRCh38]
Chr4:1805569 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.448G>C (p.Ala150Pro) single nucleotide variant not provided [RCV003727160] Chr4:1801369 [GRCh38]
Chr4:1803096 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.282G>A (p.Leu94=) single nucleotide variant not provided [RCV003861865] Chr4:1799426 [GRCh38]
Chr4:1801153 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1413-14G>T single nucleotide variant not provided [RCV003676155] Chr4:1805341 [GRCh38]
Chr4:1807068 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1836+4G>A single nucleotide variant not provided [RCV003727348] Chr4:1805944 [GRCh38]
Chr4:1807671 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.523C>T (p.Arg175Cys) single nucleotide variant not provided [RCV003711402] Chr4:1801444 [GRCh38]
Chr4:1803171 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2268C>T (p.Ser756=) single nucleotide variant not provided [RCV003677903] Chr4:1806928 [GRCh38]
Chr4:1808655 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2105A>T (p.Glu702Val) single nucleotide variant Achondroplasia [RCV005392669]|not provided [RCV003712390] Chr4:1806620 [GRCh38]
Chr4:1808347 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1959+11C>T single nucleotide variant not provided [RCV003550941] Chr4:1806184 [GRCh38]
Chr4:1807911 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.983A>G (p.Asn328Ser) single nucleotide variant not provided [RCV003736348] Chr4:1803744 [GRCh38]
Chr4:1805471 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1645+18G>A single nucleotide variant not provided [RCV003857243] Chr4:1805687 [GRCh38]
Chr4:1807414 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1246C>T (p.Arg416Cys) single nucleotide variant not provided [RCV003733238] Chr4:1804500 [GRCh38]
Chr4:1806227 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1313T>C (p.Val438Ala) single nucleotide variant not provided [RCV003711771] Chr4:1804870 [GRCh38]
Chr4:1806597 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2238G>A (p.Glu746=) single nucleotide variant not provided [RCV003712285] Chr4:1806898 [GRCh38]
Chr4:1808625 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2275-8G>A single nucleotide variant not provided [RCV003557175] Chr4:1807108 [GRCh38]
Chr4:1808835 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1127T>C (p.Ile376Thr) single nucleotide variant not provided [RCV003863297] Chr4:1804381 [GRCh38]
Chr4:1806108 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2274+3G>A single nucleotide variant not provided [RCV003722347] Chr4:1806937 [GRCh38]
Chr4:1808664 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.227A>G (p.Lys76Arg) single nucleotide variant not provided [RCV003680765] Chr4:1799371 [GRCh38]
Chr4:1801098 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:769757-2009467)x3 copy number gain not specified [RCV003986525] Chr4:769757..2009467 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.109+12C>T single nucleotide variant not provided [RCV003722602] Chr4:1794055 [GRCh38]
Chr4:1795782 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.975C>T (p.Ser325=) single nucleotide variant not provided [RCV003733808] Chr4:1803736 [GRCh38]
Chr4:1805463 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.379+17C>T single nucleotide variant not provided [RCV003730033] Chr4:1799540 [GRCh38]
Chr4:1801267 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000142.5(FGFR3):c.2166C>T (p.Asp722=) single nucleotide variant not provided [RCV003871686] Chr4:1806681 [GRCh38]
Chr4:1808408 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1748A>T (p.Lys583Met) single nucleotide variant not provided [RCV003554735] Chr4:1805852 [GRCh38]
Chr4:1807579 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000142.5(FGFR3):c.1960-13del deletion not provided [RCV003737764] Chr4:1806242 [GRCh38]
Chr4:1807969 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2163C>T (p.His721=) single nucleotide variant FGFR3-related disorder [RCV004532239]|not provided [RCV005064830] Chr4:1806678 [GRCh38]
Chr4:1808405 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.931-797G>A single nucleotide variant not provided [RCV003736512] Chr4:1802895 [GRCh38]
Chr4:1804622 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.469G>A (p.Glu157Lys) single nucleotide variant not provided [RCV003868827] Chr4:1801390 [GRCh38]
Chr4:1803117 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.445+12G>A single nucleotide variant not provided [RCV003718806] Chr4:1799824 [GRCh38]
Chr4:1801551 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1384G>A (p.Asp462Asn) single nucleotide variant not provided [RCV003860665] Chr4:1804941 [GRCh38]
Chr4:1806668 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1358A>G (p.Asn453Ser) single nucleotide variant not provided [RCV003719787] Chr4:1804915 [GRCh38]
Chr4:1806642 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.273C>T (p.Pro91=) single nucleotide variant not provided [RCV003564447] Chr4:1799417 [GRCh38]
Chr4:1801144 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.856del (p.Gln286fs) deletion not provided [RCV003686014] Chr4:1801950 [GRCh38]
Chr4:1803677 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.931-640G>A single nucleotide variant FGFR3-related disorder [RCV004534572] Chr4:1803052 [GRCh38]
Chr4:1804779 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1989T>C (p.Pro663=) single nucleotide variant not provided [RCV003711537] Chr4:1806286 [GRCh38]
Chr4:1808013 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.615+7G>A single nucleotide variant not provided [RCV003719857] Chr4:1801543 [GRCh38]
Chr4:1803270 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.172G>A (p.Glu58Lys) single nucleotide variant not provided [RCV003737580] Chr4:1799316 [GRCh38]
Chr4:1801043 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2373C>T (p.His791=) single nucleotide variant not provided [RCV003566953] Chr4:1807214 [GRCh38]
Chr4:1808941 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.524G>A (p.Arg175His) single nucleotide variant not provided [RCV003733713] Chr4:1801445 [GRCh38]
Chr4:1803172 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.324C>T (p.Ser108=) single nucleotide variant not provided [RCV003719551] Chr4:1799468 [GRCh38]
Chr4:1801195 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.66G>C (p.Ser22=) single nucleotide variant not provided [RCV003722130] Chr4:1794000 [GRCh38]
Chr4:1795727 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1537G>T (p.Asp513Tyr) single nucleotide variant Levy-Hollister syndrome [RCV004787073]|not provided [RCV003870746] Chr4:1805561 [GRCh38]
Chr4:1807288 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1724T>C (p.Leu575Pro) single nucleotide variant not provided [RCV003719766] Chr4:1805828 [GRCh38]
Chr4:1807555 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.726G>A (p.Thr242=) single nucleotide variant not provided [RCV003556885] Chr4:1801730 [GRCh38]
Chr4:1803457 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1365C>T (p.Ser455=) single nucleotide variant not provided [RCV003566911] Chr4:1804922 [GRCh38]
Chr4:1806649 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1291A>G (p.Met431Val) single nucleotide variant not provided [RCV003675520] Chr4:1804848 [GRCh38]
Chr4:1806575 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.931-9T>C single nucleotide variant not provided [RCV003680766] Chr4:1803683 [GRCh38]
Chr4:1805410 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.110-17G>C single nucleotide variant not provided [RCV003555583] Chr4:1799237 [GRCh38]
Chr4:1800964 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.826A>G (p.Lys276Glu) single nucleotide variant not provided [RCV003567733] Chr4:1801921 [GRCh38]
Chr4:1803648 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.692A>G (p.Glu231Gly) single nucleotide variant not provided [RCV003554600] Chr4:1801696 [GRCh38]
Chr4:1803423 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1272C>T (p.Ser424=) single nucleotide variant not provided [RCV003841968] Chr4:1804829 [GRCh38]
Chr4:1806556 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1100A>C (p.Asp367Ala) single nucleotide variant not provided [RCV003542808] Chr4:1804354 [GRCh38]
Chr4:1806081 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.700T>C (p.Phe234Leu) single nucleotide variant not provided [RCV003706322] Chr4:1801704 [GRCh38]
Chr4:1803431 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2106G>A (p.Glu702=) single nucleotide variant not provided [RCV003729659] Chr4:1806621 [GRCh38]
Chr4:1808348 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.577A>G (p.Arg193Gly) single nucleotide variant not provided [RCV003862795] Chr4:1801498 [GRCh38]
Chr4:1803225 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1201C>A (p.Pro401Thr) single nucleotide variant not provided [RCV003735865] Chr4:1804455 [GRCh38]
Chr4:1806182 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1218G>C (p.Leu406=) single nucleotide variant not provided [RCV003677213] Chr4:1804472 [GRCh38]
Chr4:1806199 [GRCh37]
Chr4:4p16.3		 benign
NM_000142.5(FGFR3):c.1237A>G (p.Lys413Glu) single nucleotide variant not provided [RCV003556407] Chr4:1804491 [GRCh38]
Chr4:1806218 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.705C>T (p.Gly235=) single nucleotide variant not provided [RCV003567945] Chr4:1801709 [GRCh38]
Chr4:1803436 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.790A>G (p.Thr264Ala) single nucleotide variant not provided [RCV003706618] Chr4:1801885 [GRCh38]
Chr4:1803612 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.14C>T (p.Ala5Val) single nucleotide variant not provided [RCV003727457] Chr4:1793948 [GRCh38]
Chr4:1795675 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1250T>A (p.Phe417Tyr) single nucleotide variant not provided [RCV003861411] Chr4:1804504 [GRCh38]
Chr4:1806231 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.589G>A (p.Gly197Ser) single nucleotide variant not provided [RCV003864680] Chr4:1801510 [GRCh38]
Chr4:1803237 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1135_1136delinsCG (p.Tyr379Arg) indel not provided [RCV003556556] Chr4:1804389..1804390 [GRCh38]
Chr4:1806116..1806117 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.484A>C (p.Lys162Gln) single nucleotide variant Inborn genetic diseases [RCV005335884]|not provided [RCV003731527] Chr4:1801405 [GRCh38]
Chr4:1803132 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1650C>T (p.Pro550=) single nucleotide variant not provided [RCV003706880] Chr4:1805754 [GRCh38]
Chr4:1807481 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.446-12C>T single nucleotide variant not provided [RCV003683385] Chr4:1801355 [GRCh38]
Chr4:1803082 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.931-776C>T single nucleotide variant FGFR3-related disorder [RCV004534705] Chr4:1802916 [GRCh38]
Chr4:1804643 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.363C>T (p.Phe121=) single nucleotide variant FGFR3-related disorder [RCV004534709]|not provided [RCV005101823] Chr4:1799507 [GRCh38]
Chr4:1801234 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2100G>A (p.Val700=) single nucleotide variant FGFR3-related disorder [RCV004542616] Chr4:1806615 [GRCh38]
Chr4:1808342 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.939C>T (p.Gly313=) single nucleotide variant FGFR3-related disorder [RCV004539343]|not provided [RCV005101703] Chr4:1803700 [GRCh38]
Chr4:1805427 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1224C>T (p.Ser408=) single nucleotide variant FGFR3-related disorder [RCV004544182] Chr4:1804478 [GRCh38]
Chr4:1806205 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1618_1620delinsCAT (p.Asn540His) indel not provided [RCV004547183] Chr4:1805642..1805644 [GRCh38]
Chr4:1807369..1807371 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.931-710G>A single nucleotide variant FGFR3-related disorder [RCV004544140] Chr4:1802982 [GRCh38]
Chr4:1804709 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.931-6_931-5del deletion FGFR3-related disorder [RCV004542441] Chr4:1803685..1803686 [GRCh38]
Chr4:1805412..1805413 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1837-16C>T single nucleotide variant not specified [RCV003994897] Chr4:1806035 [GRCh38]
Chr4:1807762 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.*14C>T single nucleotide variant FGFR3-related disorder [RCV004532029] Chr4:1807276 [GRCh38]
Chr4:1809003 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1109G>T (p.Gly370Val) single nucleotide variant FGFR3-related disorder [RCV004532058] Chr4:1804363 [GRCh38]
Chr4:1806090 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2081C>T (p.Pro694Leu) single nucleotide variant Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV003885434]|not provided [RCV005101449] Chr4:1806596 [GRCh38]
Chr4:1808323 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_000142.5(FGFR3):c.930+9C>G single nucleotide variant FGFR3-related disorder [RCV004539202] Chr4:1802034 [GRCh38]
Chr4:1803761 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.797T>C (p.Val266Ala) single nucleotide variant Achondroplasia [RCV003988981] Chr4:1801892 [GRCh38]
Chr4:1803619 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1534+10G>C single nucleotide variant FGFR3-related disorder [RCV004531881] Chr4:1805486 [GRCh38]
Chr4:1807213 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1413-7C>T single nucleotide variant FGFR3-related disorder [RCV004544047] Chr4:1805348 [GRCh38]
Chr4:1807075 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.89G>A (p.Arg30His) single nucleotide variant Achondroplasia [RCV003990615] Chr4:1794023 [GRCh38]
Chr4:1795750 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1335A>G (p.Ser445=) single nucleotide variant FGFR3-related disorder [RCV004531853] Chr4:1804892 [GRCh38]
Chr4:1806619 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.720G>A (p.Thr240=) single nucleotide variant FGFR3-related disorder [RCV004539393] Chr4:1801724 [GRCh38]
Chr4:1803451 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1436G>T (p.Gly479Val) single nucleotide variant Camptodactyly-tall stature-scoliosis-hearing loss syndrome [RCV003992055] Chr4:1805378 [GRCh38]
Chr4:1807105 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1988C>T (p.Pro663Leu) single nucleotide variant not specified [RCV003994893] Chr4:1806285 [GRCh38]
Chr4:1808012 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1733_1735del (p.Ser578del) deletion not provided [RCV004592400] Chr4:1805835..1805837 [GRCh38]
Chr4:1807562..1807564 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.552C>T (p.Pro184=) single nucleotide variant not specified [RCV004526477] Chr4:1801473 [GRCh38]
Chr4:1803200 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1019T>C (p.Leu340Pro) single nucleotide variant FGFR3-related CATSHL syndrome [RCV004560470]|not provided [RCV005100835] Chr4:1803780 [GRCh38]
Chr4:1805507 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.65C>T (p.Ser22Leu) single nucleotide variant Inborn genetic diseases [RCV004394139] Chr4:1793999 [GRCh38]
Chr4:1795726 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(1941525_?)dup duplication not provided [RCV004580879] Chr4:1795662..1941525 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2351G>A (p.Gly784Glu) single nucleotide variant Inborn genetic diseases [RCV004623304] Chr4:1807192 [GRCh38]
Chr4:1808919 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.136C>A (p.Gln46Lys) single nucleotide variant Inborn genetic diseases [RCV004623305] Chr4:1799280 [GRCh38]
Chr4:1801007 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(3495228_?)dup duplication not provided [RCV004580808] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(3495228_?)del deletion not provided [RCV004580832] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1821C>T (p.Tyr607=) single nucleotide variant not specified [RCV004690933] Chr4:1805925 [GRCh38]
Chr4:1807652 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1204C>A (p.Pro402Thr) single nucleotide variant Inborn genetic diseases [RCV004623306] Chr4:1804458 [GRCh38]
Chr4:1806185 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1714C>T (p.Pro572Ser) single nucleotide variant not provided [RCV004697612] Chr4:1805818 [GRCh38]
Chr4:1807545 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.925C>T (p.Leu309Phe) single nucleotide variant not provided [RCV004697611] Chr4:1802020 [GRCh38]
Chr4:1803747 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1310T>G (p.Leu437Arg) single nucleotide variant not provided [RCV004779716] Chr4:1804867 [GRCh38]
Chr4:1806594 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.110-2A>G single nucleotide variant not provided [RCV004779697] Chr4:1799252 [GRCh38]
Chr4:1800979 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.419A>T (p.Glu140Val) single nucleotide variant not provided [RCV004762714] Chr4:1799786 [GRCh38]
Chr4:1801513 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.446-9G>A single nucleotide variant not provided [RCV004770649] Chr4:1801358 [GRCh38]
Chr4:1803085 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1964G>C (p.Arg655Pro) single nucleotide variant not provided [RCV004775787] Chr4:1806261 [GRCh38]
Chr4:1807988 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2131C>T (p.His711Tyr) single nucleotide variant FGFR3-related disorder [RCV004737045] Chr4:1806646 [GRCh38]
Chr4:1808373 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2345C>T (p.Ser782Phe) single nucleotide variant not provided [RCV004781042] Chr4:1807186 [GRCh38]
Chr4:1808913 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2408del (p.Gly803fs) deletion not provided [RCV004727674] Chr4:1807245 [GRCh38]
Chr4:1808972 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_000142.5(FGFR3):c.1031C>A (p.Ser344Tyr) single nucleotide variant not provided [RCV004773367] Chr4:1803792 [GRCh38]
Chr4:1805519 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2271C>T (p.Thr757=) single nucleotide variant FGFR3-related disorder [RCV004737026]|not provided [RCV005103811] Chr4:1806931 [GRCh38]
Chr4:1808658 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.236C>T (p.Thr79Ile) single nucleotide variant not provided [RCV004773501] Chr4:1799380 [GRCh38]
Chr4:1801107 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2229G>C (p.Gln743His) single nucleotide variant not provided [RCV004729529] Chr4:1806889 [GRCh38]
Chr4:1808616 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1594A>C (p.Ile532Leu) single nucleotide variant not specified [RCV004700163] Chr4:1805618 [GRCh38]
Chr4:1807345 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.449C>T (p.Ala150Val) single nucleotide variant FGFR3-related disorder [RCV004729695] Chr4:1801370 [GRCh38]
Chr4:1803097 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2274C>T (p.Asp758=) single nucleotide variant FGFR3-related disorder [RCV004737667]|not provided [RCV005103863] Chr4:1806934 [GRCh38]
Chr4:1808661 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.788A>G (p.Gln263Arg) single nucleotide variant FGFR3-related disorder [RCV004737731] Chr4:1801883 [GRCh38]
Chr4:1803610 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.437_445+3del deletion FGFR3-related disorder [RCV004736824]|not provided [RCV004759447] Chr4:1799804..1799815 [GRCh38]
Chr4:1801531..1801542 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2061C>T (p.Ile687=) single nucleotide variant FGFR3-related disorder [RCV004736947] Chr4:1806576 [GRCh38]
Chr4:1808303 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1321G>A (p.Ala441Thr) single nucleotide variant FGFR3-related disorder [RCV004724667] Chr4:1804878 [GRCh38]
Chr4:1806605 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1864A>T (p.Asn622Tyr) single nucleotide variant not provided [RCV004772547] Chr4:1806078 [GRCh38]
Chr4:1807805 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1737C>T (p.Phe579=) single nucleotide variant not provided [RCV004722618] Chr4:1805841 [GRCh38]
Chr4:1807568 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.542A>T (p.Asn181Ile) single nucleotide variant not provided [RCV004771020] Chr4:1801463 [GRCh38]
Chr4:1803190 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1087_1095del (p.Leu363_Glu365del) deletion not provided [RCV004761360] Chr4:1804337..1804345 [GRCh38]
Chr4:1806064..1806072 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.477G>C (p.Met159Ile) single nucleotide variant not provided [RCV004776195] Chr4:1801398 [GRCh38]
Chr4:1803125 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.749C>A (p.Pro250Gln) single nucleotide variant not provided [RCV004727712] Chr4:1801844 [GRCh38]
Chr4:1803571 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1133G>T (p.Ser378Ile) single nucleotide variant not provided [RCV004776198] Chr4:1804387 [GRCh38]
Chr4:1806114 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1195C>G (p.Arg399Gly) single nucleotide variant not provided [RCV004729406] Chr4:1804449 [GRCh38]
Chr4:1806176 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2287C>G (p.Leu763Val) single nucleotide variant not provided [RCV004771996] Chr4:1807128 [GRCh38]
Chr4:1808855 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.955A>C (p.Lys319Gln) single nucleotide variant not provided [RCV004823697] Chr4:1803716 [GRCh38]
Chr4:1805443 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2311T>G (p.Ser771Ala) single nucleotide variant Inborn genetic diseases [RCV004975084] Chr4:1807152 [GRCh38]
Chr4:1808879 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2948917)x1 copy number loss not provided [RCV004819339] Chr4:68346..2948917 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_000142.5(FGFR3):c.1159A>T (p.Ile387Phe) single nucleotide variant not provided [RCV004823694] Chr4:1804413 [GRCh38]
Chr4:1806140 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1598G>C (p.Gly533Ala) single nucleotide variant not provided [RCV004823361] Chr4:1805622 [GRCh38]
Chr4:1807349 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.956A>G (p.Lys319Arg) single nucleotide variant Inborn genetic diseases [RCV004975081] Chr4:1803717 [GRCh38]
Chr4:1805444 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.821A>G (p.His274Arg) single nucleotide variant Inborn genetic diseases [RCV004975085] Chr4:1801916 [GRCh38]
Chr4:1803643 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1585A>T (p.Met529Leu) single nucleotide variant not provided [RCV005004574] Chr4:1805609 [GRCh38]
Chr4:1807336 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.126G>T (p.Glu42Asp) single nucleotide variant Inborn genetic diseases [RCV004975082]|not provided [RCV005110268] Chr4:1799270 [GRCh38]
Chr4:1800997 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_000142.5(FGFR3):c.2162A>G (p.His721Arg) single nucleotide variant Inborn genetic diseases [RCV004975083] Chr4:1806677 [GRCh38]
Chr4:1808404 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3 copy number gain not provided [RCV004819301] Chr4:68346..16744084 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_000142.5(FGFR3):c.1722C>A (p.Gly574=) single nucleotide variant not provided [RCV005147509] Chr4:1805826 [GRCh38]
Chr4:1807553 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2275-1G>A single nucleotide variant not provided [RCV005195753] Chr4:1807115 [GRCh38]
Chr4:1808842 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2274+8_2274+15dup duplication not provided [RCV005086053] Chr4:1806941..1806942 [GRCh38]
Chr4:1808668..1808669 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1535-19C>A single nucleotide variant not provided [RCV005086420] Chr4:1805540 [GRCh38]
Chr4:1807267 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1052_1053del (p.Ser351fs) microsatellite not provided [RCV005196990] Chr4:1803811..1803812 [GRCh38]
Chr4:1805538..1805539 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1512C>T (p.Thr504=) single nucleotide variant not provided [RCV005145956] Chr4:1805454 [GRCh38]
Chr4:1807181 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1127T>G (p.Ile376Ser) single nucleotide variant not provided [RCV005147056] Chr4:1804381 [GRCh38]
Chr4:1806108 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1960-16del deletion not provided [RCV005172277] Chr4:1806240 [GRCh38]
Chr4:1807967 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.937G>A (p.Gly313Ser) single nucleotide variant not provided [RCV005063797] Chr4:1803698 [GRCh38]
Chr4:1805425 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2274+9T>A single nucleotide variant not provided [RCV005060542] Chr4:1806943 [GRCh38]
Chr4:1808670 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1410C>T (p.Ala470=) single nucleotide variant not provided [RCV005195409] Chr4:1804967 [GRCh38]
Chr4:1806694 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1735_1737del (p.Phe579del) deletion not provided [RCV005085610] Chr4:1805838..1805840 [GRCh38]
Chr4:1807565..1807567 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1632C>G (p.Ala544=) single nucleotide variant not provided [RCV005172632] Chr4:1805656 [GRCh38]
Chr4:1807383 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.621G>A (p.Arg207=) single nucleotide variant not provided [RCV005173276] Chr4:1801625 [GRCh38]
Chr4:1803352 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.286G>A (p.Val96Met) single nucleotide variant not provided [RCV005066437] Chr4:1799430 [GRCh38]
Chr4:1801157 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1185C>T (p.Leu395=) single nucleotide variant not provided [RCV005170667] Chr4:1804439 [GRCh38]
Chr4:1806166 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2244G>A (p.Leu748=) single nucleotide variant not specified [RCV005237276] Chr4:1806904 [GRCh38]
Chr4:1808631 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1611C>T (p.Asn537=) single nucleotide variant not provided [RCV005180508] Chr4:1805635 [GRCh38]
Chr4:1807362 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.104C>A (p.Ala35Glu) single nucleotide variant not provided [RCV005112106] Chr4:1794038 [GRCh38]
Chr4:1795765 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.153C>T (p.Phe51=) single nucleotide variant not provided [RCV005176730] Chr4:1799297 [GRCh38]
Chr4:1801024 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.904G>A (p.Gly302Ser) single nucleotide variant not provided [RCV005185981] Chr4:1801999 [GRCh38]
Chr4:1803726 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.162G>C (p.Gly54=) single nucleotide variant not provided [RCV005158716] Chr4:1799306 [GRCh38]
Chr4:1801033 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2248C>T (p.Arg750Cys) single nucleotide variant not provided [RCV005071517] Chr4:1806908 [GRCh38]
Chr4:1808635 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1560G>T (p.Ser520=) single nucleotide variant not provided [RCV005188908] Chr4:1805584 [GRCh38]
Chr4:1807311 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.81G>T (p.Thr27=) single nucleotide variant not provided [RCV005155502] Chr4:1794015 [GRCh38]
Chr4:1795742 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1412+14A>G single nucleotide variant not provided [RCV005133519] Chr4:1804983 [GRCh38]
Chr4:1806710 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.159C>G (p.Ser53Arg) single nucleotide variant not provided [RCV005161670] Chr4:1799303 [GRCh38]
Chr4:1801030 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1346C>G (p.Pro449Arg) single nucleotide variant not provided [RCV005250673] Chr4:1804903 [GRCh38]
Chr4:1806630 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1076-12A>T single nucleotide variant not provided [RCV005177637] Chr4:1804318 [GRCh38]
Chr4:1806045 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.662C>T (p.Ser221Leu) single nucleotide variant not provided [RCV005163582] Chr4:1801666 [GRCh38]
Chr4:1803393 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1346C>T (p.Pro449Leu) single nucleotide variant not provided [RCV005153833] Chr4:1804903 [GRCh38]
Chr4:1806630 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2216C>T (p.Pro739Leu) single nucleotide variant not provided [RCV005207511] Chr4:1806876 [GRCh38]
Chr4:1808603 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.958G>T (p.Glu320Ter) single nucleotide variant not provided [RCV005130202] Chr4:1803719 [GRCh38]
Chr4:1805446 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1267-20G>C single nucleotide variant not provided [RCV005168236] Chr4:1804804 [GRCh38]
Chr4:1806531 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1673C>T (p.Ala558Val) single nucleotide variant not provided [RCV005110706] Chr4:1805777 [GRCh38]
Chr4:1807504 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2377C>G (p.Leu793Val) single nucleotide variant not provided [RCV005236287] Chr4:1807218 [GRCh38]
Chr4:1808945 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2064C>T (p.Phe688=) single nucleotide variant not provided [RCV005074865] Chr4:1806579 [GRCh38]
Chr4:1808306 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.336G>A (p.Arg112=) single nucleotide variant not provided [RCV005168970] Chr4:1799480 [GRCh38]
Chr4:1801207 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1632C>T (p.Ala544=) single nucleotide variant not provided [RCV005144143] Chr4:1805656 [GRCh38]
Chr4:1807383 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.131G>A (p.Gly44Asp) single nucleotide variant not provided [RCV005149549] Chr4:1799275 [GRCh38]
Chr4:1801002 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1063G>A (p.Val355Met) single nucleotide variant not provided [RCV005078077] Chr4:1803824 [GRCh38]
Chr4:1805551 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.446-7C>T single nucleotide variant not provided [RCV005142207] Chr4:1801360 [GRCh38]
Chr4:1803087 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1269G>A (p.Val423=) single nucleotide variant not provided [RCV005142250] Chr4:1804826 [GRCh38]
Chr4:1806553 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-16.2(chr4:80000-5520000)x1 copy number loss See cases [RCV005244179] Chr4:80000..5520000 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NM_000142.5(FGFR3):c.2067G>A (p.Thr689=) single nucleotide variant not provided [RCV005144811] Chr4:1806582 [GRCh38]
Chr4:1808309 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.629A>G (p.Gln210Arg) single nucleotide variant not provided [RCV005244902] Chr4:1801633 [GRCh38]
Chr4:1803360 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1597G>T (p.Gly533Trp) single nucleotide variant not provided [RCV005207364] Chr4:1805621 [GRCh38]
Chr4:1807348 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2414G>A (p.Arg805Gln) single nucleotide variant not provided [RCV005176347] Chr4:1807255 [GRCh38]
Chr4:1808982 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.740-5C>A single nucleotide variant not provided [RCV005194745] Chr4:1801830 [GRCh38]
Chr4:1803557 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1107G>C (p.Ala369=) single nucleotide variant not provided [RCV005167546] Chr4:1804361 [GRCh38]
Chr4:1806088 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.445+2T>G single nucleotide variant not provided [RCV005189454] Chr4:1799814 [GRCh38]
Chr4:1801541 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.353T>C (p.Leu118Pro) single nucleotide variant not provided [RCV005112107] Chr4:1799497 [GRCh38]
Chr4:1801224 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1220G>A (p.Gly407Asp) single nucleotide variant not provided [RCV005112110] Chr4:1804474 [GRCh38]
Chr4:1806201 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2161C>T (p.His721Tyr) single nucleotide variant not provided [RCV005112114] Chr4:1806676 [GRCh38]
Chr4:1808403 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1161C>T (p.Ile387=) single nucleotide variant not provided [RCV005070718] Chr4:1804415 [GRCh38]
Chr4:1806142 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.794C>T (p.Ala265Val) single nucleotide variant not provided [RCV005152911] Chr4:1801889 [GRCh38]
Chr4:1803616 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.931-8C>T single nucleotide variant not provided [RCV005076188] Chr4:1803684 [GRCh38]
Chr4:1805411 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.210G>T (p.Gly70=) single nucleotide variant not provided [RCV005194719] Chr4:1799354 [GRCh38]
Chr4:1801081 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.380-4G>A single nucleotide variant not provided [RCV005192086] Chr4:1799743 [GRCh38]
Chr4:1801470 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2293_2302del (p.Ala765fs) deletion not provided [RCV005140875] Chr4:1807131..1807140 [GRCh38]
Chr4:1808858..1808867 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.615+9G>C single nucleotide variant not provided [RCV005186762] Chr4:1801545 [GRCh38]
Chr4:1803272 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2200G>T (p.Ala734Ser) single nucleotide variant not provided [RCV005194078] Chr4:1806860 [GRCh38]
Chr4:1808587 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.691G>A (p.Glu231Lys) single nucleotide variant not provided [RCV005082634] Chr4:1801695 [GRCh38]
Chr4:1803422 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1602A>G (p.Lys534=) single nucleotide variant not provided [RCV005149578] Chr4:1805626 [GRCh38]
Chr4:1807353 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1965G>A (p.Arg655=) single nucleotide variant not provided [RCV005128509] Chr4:1806262 [GRCh38]
Chr4:1807989 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.111A>C (p.Glu37Asp) single nucleotide variant not provided [RCV005142450] Chr4:1799255 [GRCh38]
Chr4:1800982 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1960-7C>G single nucleotide variant not provided [RCV005111428] Chr4:1806250 [GRCh38]
Chr4:1807977 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2114A>G (p.Lys705Arg) single nucleotide variant not provided [RCV005187547] Chr4:1806629 [GRCh38]
Chr4:1808356 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.615+9G>A single nucleotide variant not provided [RCV005121101] Chr4:1801545 [GRCh38]
Chr4:1803272 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.174G>A (p.Glu58=) single nucleotide variant not provided [RCV005082132] Chr4:1799318 [GRCh38]
Chr4:1801045 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.589G>T (p.Gly197Cys) single nucleotide variant not provided [RCV005112108] Chr4:1801510 [GRCh38]
Chr4:1803237 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2176A>G (p.Ile726Val) single nucleotide variant not provided [RCV005112115] Chr4:1806836 [GRCh38]
Chr4:1808563 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2317G>C (p.Gly773Arg) single nucleotide variant not provided [RCV005112117] Chr4:1807158 [GRCh38]
Chr4:1808885 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2405G>C (p.Gly802Ala) single nucleotide variant not provided [RCV005112118] Chr4:1807246 [GRCh38]
Chr4:1808973 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1246C>G (p.Arg416Gly) single nucleotide variant not provided [RCV005112111] Chr4:1804500 [GRCh38]
Chr4:1806227 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2260G>C (p.Val754Leu) single nucleotide variant not provided [RCV005112116] Chr4:1806920 [GRCh38]
Chr4:1808647 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.606A>C (p.Gly202=) single nucleotide variant not provided [RCV005074981] Chr4:1801527 [GRCh38]
Chr4:1803254 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.744C>T (p.Arg248=) single nucleotide variant not provided [RCV005108020] Chr4:1801839 [GRCh38]
Chr4:1803566 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1467G>A (p.Ala489=) single nucleotide variant not provided [RCV005178889] Chr4:1805409 [GRCh38]
Chr4:1807136 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.546C>T (p.Pro182=) single nucleotide variant not provided [RCV005149580] Chr4:1801467 [GRCh38]
Chr4:1803194 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1629C>G (p.Gly543=) single nucleotide variant not provided [RCV005108602] Chr4:1805653 [GRCh38]
Chr4:1807380 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2031-3C>T single nucleotide variant not provided [RCV005126267] Chr4:1806543 [GRCh38]
Chr4:1808270 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2169-14C>T single nucleotide variant not provided [RCV005179239] Chr4:1806815 [GRCh38]
Chr4:1808542 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2029G>A (p.Val677Ile) single nucleotide variant not provided [RCV005179244] Chr4:1806326 [GRCh38]
Chr4:1808053 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1722C>T (p.Gly574=) single nucleotide variant not provided [RCV005069697] Chr4:1805826 [GRCh38]
Chr4:1807553 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.379+8C>T single nucleotide variant not provided [RCV005197941] Chr4:1799531 [GRCh38]
Chr4:1801258 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1271C>T (p.Ser424Phe) single nucleotide variant not provided [RCV005202584] Chr4:1804828 [GRCh38]
Chr4:1806555 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2202G>A (p.Ala734=) single nucleotide variant not provided [RCV005177100] Chr4:1806862 [GRCh38]
Chr4:1808589 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1252C>G (p.Pro418Ala) single nucleotide variant not provided [RCV005108310] Chr4:1804506 [GRCh38]
Chr4:1806233 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1962C>T (p.Gly654=) single nucleotide variant not provided [RCV005125618] Chr4:1806259 [GRCh38]
Chr4:1807986 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.189G>C (p.Pro63=) single nucleotide variant not provided [RCV005184334] Chr4:1799333 [GRCh38]
Chr4:1801060 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2182C>T (p.Arg728Trp) single nucleotide variant not provided [RCV005110646] Chr4:1806842 [GRCh38]
Chr4:1808569 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2275-6C>A single nucleotide variant not provided [RCV005199363] Chr4:1807110 [GRCh38]
Chr4:1808837 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2387C>T (p.Pro796Leu) single nucleotide variant not provided [RCV005180845] Chr4:1807228 [GRCh38]
Chr4:1808955 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1383C>T (p.Ala461=) single nucleotide variant not provided [RCV005184432] Chr4:1804940 [GRCh38]
Chr4:1806667 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.129C>T (p.Pro43=) single nucleotide variant not provided [RCV005122682] Chr4:1799273 [GRCh38]
Chr4:1801000 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2218A>C (p.Thr740Pro) single nucleotide variant Inborn genetic diseases [RCV005344421] Chr4:1806878 [GRCh38]
Chr4:1808605 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2078C>G (p.Ser693Cys) single nucleotide variant not provided [RCV005251811] Chr4:1806593 [GRCh38]
Chr4:1808320 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.341C>G (p.Thr114Arg) single nucleotide variant Epidermal nevus [RCV005251516] Chr4:1799485 [GRCh38]
Chr4:1801212 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.166G>A (p.Ala56Thr) single nucleotide variant Achondroplasia [RCV005400313] Chr4:1799310 [GRCh38]
Chr4:1801037 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2363T>C (p.Val788Ala) single nucleotide variant not provided [RCV005257795] Chr4:1807204 [GRCh38]
Chr4:1808931 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.2169G>A (p.Leu723=) single nucleotide variant Inborn genetic diseases [RCV005344420] Chr4:1806829 [GRCh38]
Chr4:1808556 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.1201C>T (p.Pro401Ser) single nucleotide variant Inborn genetic diseases [RCV005344422] Chr4:1804455 [GRCh38]
Chr4:1806182 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.928A>G (p.Lys310Glu) single nucleotide variant not provided [RCV005254627] Chr4:1802023 [GRCh38]
Chr4:1803750 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1169T>C (p.Val390Ala) single nucleotide variant not provided [RCV005423365] Chr4:1804423 [GRCh38]
Chr4:1806150 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.276G>A (p.Gln92=) single nucleotide variant not provided [RCV005428526] Chr4:1799420 [GRCh38]
Chr4:1801147 [GRCh37]
Chr4:4p16.3		 likely benign
NM_000142.5(FGFR3):c.2017C>T (p.His673Tyr) single nucleotide variant not provided [RCV005412994] Chr4:1806314 [GRCh38]
Chr4:1808041 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_000142.5(FGFR3):c.1637C>T (p.Thr546Met) single nucleotide variant not provided [RCV005417309] Chr4:1805661 [GRCh38]
Chr4:1807388 [GRCh37]
Chr4:4p16.3		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR99Bhsa-miR-99b-5pOncomiRDBexternal_infoNANA22969861
MIR100hsa-miR-100-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19843843
MIR100hsa-miR-100-5pMirecordsexternal_infoNANA19843843
MIR99Ahsa-miR-99a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19843843
MIR99Ahsa-miR-99a-5pTarbaseexternal_infoReporter GenePOSITIVE
MIR99Ahsa-miR-99a-5pTarbaseexternal_infoWesternblitPOSITIVE
MIR99Ahsa-miR-99a-5pMirecordsexternal_infoNANA19843843

Predicted Target Of
Summary Value
Count of predictions:6263
Count of miRNA genes:942
Interacting mature miRNAs:1127
Transcripts:ENST00000260795, ENST00000340107, ENST00000352904, ENST00000412135, ENST00000440486, ENST00000469068, ENST00000474521, ENST00000481110, ENST00000507588
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
628683640GWAS2591869_Hbody height QTL GWAS2591869 (human)2e-31body height418047921804793Human
597139349GWAS1235423_Hchronic obstructive pulmonary disease QTL GWAS1235423 (human)2e-08chronic obstructive pulmonary disease418025491802550Human
628749178GWAS2657407_Hhealth trait QTL GWAS2657407 (human)3e-08health trait418047921804793Human
628659453GWAS2567682_HFEV/FVC ratio QTL GWAS2567682 (human)8e-17lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)418025491802550Human
597150232GWAS1246306_Heducational attainment QTL GWAS1246306 (human)0.0000002educational attainment418026501802651Human
625820253GWAS2241175_Hhealth trait QTL GWAS2241175 (human)3e-08health trait418047921804793Human
407230932GWAS879908_Hbody height QTL GWAS879908 (human)3e-16body height417960141796015Human
597301897GWAS1397971_Htriacylglycerol 52:3 measurement QTL GWAS1397971 (human)3e-08triacylglycerol 52:3 measurement417946271794628Human
628913000GWAS2821229_Hserum alanine aminotransferase amount QTL GWAS2821229 (human)4e-08serum alanine aminotransferase amount418005921800593Human
628833389GWAS2741618_Htriacylglycerol 52:3 measurement QTL GWAS2741618 (human)5e-08blood triglyceride amount (VT:0002644)417946271794628Human
628621409GWAS2529638_HFEV/FVC ratio QTL GWAS2529638 (human)2e-13lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)418025491802550Human
597392514GWAS1488588_Hbody height QTL GWAS1488588 (human)1e-43body height418047921804793Human
628890464GWAS2798693_Heducational attainment QTL GWAS2798693 (human)0.0000002educational attainment418026501802651Human
597367994GWAS1464068_HBMI-adjusted waist circumference QTL GWAS1464068 (human)1e-08BMI-adjusted waist circumference418047921804793Human
625823081GWAS2244003_Hbody height QTL GWAS2244003 (human)2e-11body height417944531794454Human
597313214GWAS1409288_Hretinal vasculature measurement QTL GWAS1409288 (human)9e-09retinal vasculature measurement417957571795758Human
407040612GWAS689588_Hchronic obstructive pulmonary disease QTL GWAS689588 (human)2e-08chronic obstructive pulmonary disease418025491802550Human
597995394GWAS1714693_Hbody height QTL GWAS1714693 (human)1e-43body height418047921804793Human
625823082GWAS2244004_Hbody height QTL GWAS2244004 (human)7e-28body height418047921804793Human
407203949GWAS852925_HFEV/FVC ratio QTL GWAS852925 (human)2e-13FEV/FVC ratio418025491802550Human
598062607GWAS1781906_Hbody height QTL GWAS1781906 (human)3e-16body height417960141796015Human
406948586GWAS597562_Heducational attainment QTL GWAS597562 (human)0.0000002educational attainment418026501802651Human
407165800GWAS814776_HFEV/FVC ratio QTL GWAS814776 (human)8e-17FEV/FVC ratio418025491802550Human
628710996GWAS2619225_Hretinal vasculature measurement QTL GWAS2619225 (human)9e-09retina blood vessel morphology trait (VT:0002792)417957571795758Human
407213416GWAS862392_HBMI-adjusted waist circumference QTL GWAS862392 (human)1e-08BMI-adjusted waist circumference418047921804793Human
597488429GWAS1584503_Hbody height QTL GWAS1584503 (human)1e-34body height418047921804793Human
407130102GWAS779078_HBack pain QTL GWAS779078 (human)4e-14Back pain417949091794910Human
597055394GWAS1151468_HFEV/FVC ratio QTL GWAS1151468 (human)2e-13FEV/FVC ratio418025491802550Human
598034835GWAS1754134_Hbody height QTL GWAS1754134 (human)1e-34body height418047921804793Human
407321082GWAS970058_Htriacylglycerol 52:3 measurement QTL GWAS970058 (human)3e-08triacylglycerol 52:3 measurement417946271794628Human
597343015GWAS1439089_HBack pain QTL GWAS1439089 (human)4e-14Back pain417949091794910Human
597296421GWAS1392495_Htriacylglycerol 52:3 measurement QTL GWAS1392495 (human)5e-08triacylglycerol 52:3 measurement417946271794628Human
628835384GWAS2743613_Htriacylglycerol 52:3 measurement QTL GWAS2743613 (human)3e-08blood triglyceride amount (VT:0002644)417946271794628Human
407314176GWAS963152_Htriacylglycerol 52:3 measurement QTL GWAS963152 (human)5e-08triacylglycerol 52:3 measurement417946271794628Human
406925190GWAS574166_Hbody height QTL GWAS574166 (human)9e-62body height417960141796015Human
628970170GWAS2878399_Hbody height QTL GWAS2878399 (human)3e-16body height417960141796015Human
407208066GWAS857042_Hbody height QTL GWAS857042 (human)6e-16body height418049021804903Human
628616255GWAS2524484_Hbody height QTL GWAS2524484 (human)1e-43body height418047921804793Human
407062025GWAS711001_Hretinal vasculature measurement QTL GWAS711001 (human)9e-09retinal vasculature measurement417957571795758Human
596976990GWAS1096509_Hbody height QTL GWAS1096509 (human)1e-34body height418047921804793Human
597119303GWAS1215377_Hbody height QTL GWAS1215377 (human)6e-16body height418049021804903Human
616371944GWAS1852186_Hcerebral cortex area attribute QTL GWAS1852186 (human)4e-15cerebral cortex area attribute417948121794813Human
628930596GWAS2838825_Hbody height QTL GWAS2838825 (human)9e-62body height417960141796015Human
626454542GWAS2268475_Hserum alanine aminotransferase amount QTL GWAS2268475 (human)4e-08serum alanine aminotransferase amount418005921800593Human
407081497GWAS730473_Hbody height QTL GWAS730473 (human)1e-43body height418047921804793Human
628715557GWAS2623786_Hbody height QTL GWAS2623786 (human)7e-28body height418047921804793Human
628715556GWAS2623785_Hbody height QTL GWAS2623785 (human)2e-11body height417944531794454Human
598048708GWAS1768007_Hbody height QTL GWAS1768007 (human)9e-62body height417960141796015Human
628434963GWAS2343192_HBMI-adjusted waist circumference QTL GWAS2343192 (human)1e-08body size trait (VT:0100005)418047921804793Human
628828182GWAS2736411_Hbody height QTL GWAS2736411 (human)1e-34body height418047921804793Human
597998932GWAS1718231_Hbody height QTL GWAS1718231 (human)6e-16body height418049021804903Human
628771083GWAS2679312_Hcerebral cortex area attribute QTL GWAS2679312 (human)4e-15cerebral cortex area attribute417948121794813Human
597198315GWAS1294389_Hbody height QTL GWAS1294389 (human)9e-62body height417960141796015Human
597216748GWAS1312822_Hbody height QTL GWAS1312822 (human)3e-16body height417960141796015Human
616554441GWAS1951024_Hbody height QTL GWAS1951024 (human)2e-31body height418047921804793Human
597343587GWAS1439661_HFEV/FVC ratio QTL GWAS1439661 (human)8e-17FEV/FVC ratio418025491802550Human
628857984GWAS2766213_Hchronic obstructive pulmonary disease QTL GWAS2766213 (human)2e-08lung integrity trait (VT:0010906)418025491802550Human
628566664GWAS2474893_Hbody height QTL GWAS2474893 (human)6e-16body height418049021804903Human

Markers in Region
RH18137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,804,652 - 1,804,777UniSTSGRCh37
Build 3641,774,450 - 1,774,575RGDNCBI36
Celera41,717,168 - 1,717,293RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,747,526 - 1,747,651UniSTS
GDB:187013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,810,180 - 1,810,372UniSTSGRCh37
Build 3641,779,978 - 1,780,170RGDNCBI36
Celera41,722,694 - 1,722,886RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,753,052 - 1,753,244UniSTS
GDB:454675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,806,063 - 1,806,226UniSTSGRCh37
Build 3641,775,861 - 1,776,024RGDNCBI36
Celera41,718,579 - 1,718,742RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,748,937 - 1,749,100UniSTS
GDB:581559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,806,079 - 1,806,237UniSTSGRCh37
Build 3641,775,877 - 1,776,035RGDNCBI36
Celera41,718,595 - 1,718,753RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,748,953 - 1,749,111UniSTS
GDB:585477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,808,854 - 1,809,047UniSTSGRCh37
Build 3641,778,652 - 1,778,845RGDNCBI36
Celera41,721,370 - 1,721,563RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,751,728 - 1,751,921UniSTS
GDB:681581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,807,031 - 1,807,579UniSTSGRCh37
Build 3641,776,829 - 1,777,377RGDNCBI36
Celera41,719,547 - 1,720,095RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,749,905 - 1,750,453UniSTS
WI-15208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,810,420 - 1,810,569UniSTSGRCh37
Build 3641,780,218 - 1,780,367RGDNCBI36
Celera41,722,934 - 1,723,083RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,753,292 - 1,753,441UniSTS
GeneMap99-GB4 RH Map424.06UniSTS
Whitehead-RH Map413.7UniSTS
NCBI RH Map450.7UniSTS
G15851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,809,088 - 1,809,235UniSTSGRCh37
Build 3641,778,886 - 1,779,033RGDNCBI36
Celera41,721,604 - 1,721,749RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,751,962 - 1,752,107UniSTS
GDB:454672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,805,426 - 1,806,140UniSTSGRCh37
Celera41,717,942 - 1,718,656UniSTS
Cytogenetic Map4p16.3UniSTS
HuRef41,748,300 - 1,749,014UniSTS
FGFR3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,803,118 - 1,803,703UniSTSGRCh37
Celera41,715,634 - 1,716,219UniSTS
HuRef41,745,992 - 1,746,577UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2240 4967 1721 2344 6 623 1705 465 2266 7065 6232 49 3731 852 1740 1609 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF238374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF245114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF369211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF369212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF369213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF487554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW204106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY768549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC153824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM244683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF787106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M58051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG833027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG833028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK542707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000260795   ⟹   ENSP00000260795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,312 - 1,807,275 (+)Ensembl
Ensembl Acc Id: ENST00000340107   ⟹   ENSP00000339824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,293 - 1,808,867 (+)Ensembl
Ensembl Acc Id: ENST00000352904   ⟹   ENSP00000231803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,896 - 1,807,322 (+)Ensembl
Ensembl Acc Id: ENST00000412135   ⟹   ENSP00000412903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,293 - 1,808,872 (+)Ensembl
Ensembl Acc Id: ENST00000440486   ⟹   ENSP00000414914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,293 - 1,808,867 (+)Ensembl
Ensembl Acc Id: ENST00000469068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,804,492 - 1,805,859 (+)Ensembl
Ensembl Acc Id: ENST00000474521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,801,629 - 1,803,152 (+)Ensembl
Ensembl Acc Id: ENST00000481110   ⟹   ENSP00000420533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,301 - 1,808,791 (+)Ensembl
Ensembl Acc Id: ENST00000507588   ⟹   ENSP00000427289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,801,462 - 1,803,739 (+)Ensembl
Ensembl Acc Id: ENST00000613647   ⟹   ENSP00000479472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,312 - 1,808,872 (+)Ensembl
Ensembl Acc Id: ENST00000643463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,801,912 - 1,804,520 (+)Ensembl
Ensembl Acc Id: ENST00000901225   ⟹   ENSP00000571284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,293 - 1,808,873 (+)Ensembl
Ensembl Acc Id: ENST00000901226   ⟹   ENSP00000571285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,734 - 1,808,873 (+)Ensembl
Ensembl Acc Id: ENST00000901227   ⟹   ENSP00000571286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,739 - 1,808,869 (+)Ensembl
Ensembl Acc Id: ENST00000901228   ⟹   ENSP00000571287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,783 - 1,808,870 (+)Ensembl
Ensembl Acc Id: ENST00000911470   ⟹   ENSP00000581529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,286 - 1,808,871 (+)Ensembl
Ensembl Acc Id: ENST00000911471   ⟹   ENSP00000581530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,288 - 1,808,871 (+)Ensembl
Ensembl Acc Id: ENST00000911472   ⟹   ENSP00000581531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,295 - 1,808,870 (+)Ensembl
Ensembl Acc Id: ENST00000911473   ⟹   ENSP00000581532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,295 - 1,808,867 (+)Ensembl
Ensembl Acc Id: ENST00000911474   ⟹   ENSP00000581533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,873 - 1,808,871 (+)Ensembl
Ensembl Acc Id: ENST00000955401   ⟹   ENSP00000625460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,288 - 1,808,872 (+)Ensembl
Ensembl Acc Id: ENST00000955402   ⟹   ENSP00000625461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,294 - 1,808,865 (+)Ensembl
Ensembl Acc Id: ENST00000955403   ⟹   ENSP00000625462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,670 - 1,808,864 (+)Ensembl
Ensembl Acc Id: ENST00000955404   ⟹   ENSP00000625463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,793,731 - 1,808,867 (+)Ensembl
RefSeq Acc Id: NM_000142   ⟹   NP_000133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
GRCh3741,795,039 - 1,810,599 (+)ENTREZGENE
Build 3641,765,421 - 1,780,396 (+)NCBI Archive
HuRef41,725,137 - 1,753,471 (+)ENTREZGENE
CHM1_141,792,977 - 1,808,551 (+)NCBI
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001163213   ⟹   NP_001156685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
GRCh3741,795,039 - 1,810,599 (+)ENTREZGENE
HuRef41,725,137 - 1,753,471 (+)ENTREZGENE
CHM1_141,792,977 - 1,808,551 (+)NCBI
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354809   ⟹   NP_001341738
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354810   ⟹   NP_001341739
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022965   ⟹   NP_075254
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
GRCh3741,795,039 - 1,810,599 (+)ENTREZGENE
Build 3641,765,421 - 1,780,396 (+)NCBI Archive
HuRef41,725,137 - 1,753,471 (+)ENTREZGENE
CHM1_141,792,977 - 1,808,551 (+)NCBI
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148971
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713868   ⟹   XP_006713931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713869   ⟹   XP_006713932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713870   ⟹   XP_006713933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713871   ⟹   XP_006713934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713873   ⟹   XP_006713936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513420   ⟹   XP_011511722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513422   ⟹   XP_011511724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449820   ⟹   XP_047305776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,783 - 1,808,867 (+)NCBI
RefSeq Acc Id: XM_047449821   ⟹   XP_047305777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,808,867 (+)NCBI
RefSeq Acc Id: XM_047449822   ⟹   XP_047305778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,783 - 1,808,867 (+)NCBI
RefSeq Acc Id: XM_047449823   ⟹   XP_047305779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,783 - 1,808,867 (+)NCBI
RefSeq Acc Id: XM_047449824   ⟹   XP_047305780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,783 - 1,808,867 (+)NCBI
RefSeq Acc Id: XM_054349261   ⟹   XP_054205236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
RefSeq Acc Id: XM_054349262   ⟹   XP_054205237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
RefSeq Acc Id: XM_054349263   ⟹   XP_054205238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
RefSeq Acc Id: XM_054349264   ⟹   XP_054205239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
RefSeq Acc Id: XM_054349265   ⟹   XP_054205240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
RefSeq Acc Id: XM_054349266   ⟹   XP_054205241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
RefSeq Acc Id: XM_054349267   ⟹   XP_054205242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
RefSeq Acc Id: XM_054349268   ⟹   XP_054205243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000133 (Get FASTA)   NCBI Sequence Viewer  
  NP_001156685 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341738 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341739 (Get FASTA)   NCBI Sequence Viewer  
  NP_075254 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713931 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713932 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713933 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713934 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713936 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511722 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511724 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305776 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305777 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305778 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305779 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305780 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205236 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205237 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205238 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205239 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205240 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205241 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205242 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205243 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52450 (Get FASTA)   NCBI Sequence Viewer  
  AAA58470 (Get FASTA)   NCBI Sequence Viewer  
  AAA63209 (Get FASTA)   NCBI Sequence Viewer  
  AAA67781 (Get FASTA)   NCBI Sequence Viewer  
  AAB33323 (Get FASTA)   NCBI Sequence Viewer  
  AAF63380 (Get FASTA)   NCBI Sequence Viewer  
  AAF97749 (Get FASTA)   NCBI Sequence Viewer  
  AAI21176 (Get FASTA)   NCBI Sequence Viewer  
  AAI28611 (Get FASTA)   NCBI Sequence Viewer  
  AAI53825 (Get FASTA)   NCBI Sequence Viewer  
  AAK54727 (Get FASTA)   NCBI Sequence Viewer  
  AAK54728 (Get FASTA)   NCBI Sequence Viewer  
  AAK54729 (Get FASTA)   NCBI Sequence Viewer  
  AAM22078 (Get FASTA)   NCBI Sequence Viewer  
  AAM22079 (Get FASTA)   NCBI Sequence Viewer  
  AAU89726 (Get FASTA)   NCBI Sequence Viewer  
  ADM64307 (Get FASTA)   NCBI Sequence Viewer  
  AHW56474 (Get FASTA)   NCBI Sequence Viewer  
  AHW56614 (Get FASTA)   NCBI Sequence Viewer  
  AHW56643 (Get FASTA)   NCBI Sequence Viewer  
  AVK59492 (Get FASTA)   NCBI Sequence Viewer  
  AVK59493 (Get FASTA)   NCBI Sequence Viewer  
  BAD92678 (Get FASTA)   NCBI Sequence Viewer  
  CAA59334 (Get FASTA)   NCBI Sequence Viewer  
  CAA70981 (Get FASTA)   NCBI Sequence Viewer  
  EAW82562 (Get FASTA)   NCBI Sequence Viewer  
  EAW82563 (Get FASTA)   NCBI Sequence Viewer  
  EAW82564 (Get FASTA)   NCBI Sequence Viewer  
  EAW82565 (Get FASTA)   NCBI Sequence Viewer  
  EAW82566 (Get FASTA)   NCBI Sequence Viewer  
  EAW82567 (Get FASTA)   NCBI Sequence Viewer  
  EAW82568 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000231803
  ENSP00000231803.1
  ENSP00000339824
  ENSP00000339824.4
  ENSP00000414914
  ENSP00000414914.2
  ENSP00000420533
  ENSP00000571284
  ENSP00000571285
  ENSP00000581529
  ENSP00000581532
  ENSP00000625462
  ENSP00000625463
GenBank Protein P22607 (Get FASTA)   NCBI Sequence Viewer  
  QFR38180 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001156685   ⟸   NM_001163213
- Peptide Label: isoform 3 precursor
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000133   ⟸   NM_000142
- Peptide Label: isoform 1 precursor
- UniProtKB: Q16608 (UniProtKB/Swiss-Prot),   Q16294 (UniProtKB/Swiss-Prot),   Q14308 (UniProtKB/Swiss-Prot),   D3DVQ0 (UniProtKB/Swiss-Prot),   D3DVP9 (UniProtKB/Swiss-Prot),   Q59FL9 (UniProtKB/Swiss-Prot),   P22607 (UniProtKB/Swiss-Prot),   A0A7I2RW32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_075254   ⟸   NM_022965
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A7I2RW32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713931   ⟸   XM_006713868
- Peptide Label: isoform X1
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713932   ⟸   XM_006713869
- Peptide Label: isoform X3
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713933   ⟸   XM_006713870
- Peptide Label: isoform X2
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713934   ⟸   XM_006713871
- Peptide Label: isoform X5
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713936   ⟸   XM_006713873
- Peptide Label: isoform X9
- UniProtKB: A0A7I2RW32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511722   ⟸   XM_011513420
- Peptide Label: isoform X6
- UniProtKB: A0A7I2RW32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511724   ⟸   XM_011513422
- Peptide Label: isoform X7
- UniProtKB: A0A7I2RW32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341738   ⟸   NM_001354809
- Peptide Label: isoform 4 precursor
- UniProtKB: X5D2G8 (UniProtKB/TrEMBL),   A0A7I2RW32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341739   ⟸   NM_001354810
- Peptide Label: isoform 5 precursor
- UniProtKB: F8W9L4 (UniProtKB/TrEMBL),   A0A7I2RW32 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000412903   ⟸   ENST00000412135
Ensembl Acc Id: ENSP00000427289   ⟸   ENST00000507588
Ensembl Acc Id: ENSP00000414914   ⟸   ENST00000440486
Ensembl Acc Id: ENSP00000420533   ⟸   ENST00000481110
Ensembl Acc Id: ENSP00000479472   ⟸   ENST00000613647
Ensembl Acc Id: ENSP00000231803   ⟸   ENST00000352904
Ensembl Acc Id: ENSP00000260795   ⟸   ENST00000260795
Ensembl Acc Id: ENSP00000339824   ⟸   ENST00000340107
RefSeq Acc Id: XP_047305777   ⟸   XM_047449821
- Peptide Label: isoform X4
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305776   ⟸   XM_047449820
- Peptide Label: isoform X1
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305778   ⟸   XM_047449822
- Peptide Label: isoform X8
- UniProtKB: X5D2G8 (UniProtKB/TrEMBL),   A0A7I2RW32 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305779   ⟸   XM_047449823
- Peptide Label: isoform X9
- UniProtKB: A0A7I2RW32 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305780   ⟸   XM_047449824
- Peptide Label: isoform X10
- UniProtKB: Q16608 (UniProtKB/Swiss-Prot),   Q16294 (UniProtKB/Swiss-Prot),   Q14308 (UniProtKB/Swiss-Prot),   P22607 (UniProtKB/Swiss-Prot),   D3DVQ0 (UniProtKB/Swiss-Prot),   D3DVP9 (UniProtKB/Swiss-Prot),   Q59FL9 (UniProtKB/Swiss-Prot),   A0A7I2RW32 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205236   ⟸   XM_054349261
- Peptide Label: isoform X1
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205238   ⟸   XM_054349263
- Peptide Label: isoform X3
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205237   ⟸   XM_054349262
- Peptide Label: isoform X2
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205239   ⟸   XM_054349264
- Peptide Label: isoform X4
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205240   ⟸   XM_054349265
- Peptide Label: isoform X5
- UniProtKB: Q8NI16 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205241   ⟸   XM_054349266
- Peptide Label: isoform X6
- UniProtKB: A0A7I2RW32 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205242   ⟸   XM_054349267
- Peptide Label: isoform X7
- UniProtKB: A0A7I2RW32 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205243   ⟸   XM_054349268
- Peptide Label: isoform X9
- UniProtKB: A0A7I2RW32 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000581529   ⟸   ENST00000911470
Ensembl Acc Id: ENSP00000571287   ⟸   ENST00000901228
Ensembl Acc Id: ENSP00000571286   ⟸   ENST00000901227
Ensembl Acc Id: ENSP00000625461   ⟸   ENST00000955402
Ensembl Acc Id: ENSP00000571285   ⟸   ENST00000901226
Ensembl Acc Id: ENSP00000581531   ⟸   ENST00000911472
Ensembl Acc Id: ENSP00000625462   ⟸   ENST00000955403
Ensembl Acc Id: ENSP00000571284   ⟸   ENST00000901225
Ensembl Acc Id: ENSP00000581533   ⟸   ENST00000911474
Ensembl Acc Id: ENSP00000625463   ⟸   ENST00000955404
Ensembl Acc Id: ENSP00000581532   ⟸   ENST00000911473
Ensembl Acc Id: ENSP00000581530   ⟸   ENST00000911471
Ensembl Acc Id: ENSP00000625460   ⟸   ENST00000955401
Protein Domains
Ig-like   Ig-like C2-type   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22607-F1-model_v2 AlphaFold P22607 1-806 view protein structure

Promoters
RGD ID:6802326
Promoter ID:HG_KWN:47675
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000340107,   ENST00000352904,   ENST00000360915,   NM_000142,   NM_001163213,   NM_022965,   OTTHUMT00000241632
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,764,499 - 1,764,999 (+)MPROMDB
RGD ID:6802315
Promoter ID:HG_KWN:47676
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003GDT.1,   UC010ICB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,771,961 - 1,772,461 (+)MPROMDB
RGD ID:6802188
Promoter ID:HG_KWN:47678
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000312875
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,778,761 - 1,779,261 (+)MPROMDB
RGD ID:6866848
Promoter ID:EPDNEW_H6589
Type:initiation region
Name:FGFR3_1
Description:fibroblast growth factor receptor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,793,293 - 1,793,353EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3690 AgrOrtholog
COSMIC FGFR3 COSMIC
Ensembl Genes ENSG00000068078 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000340107 ENTREZGENE
  ENST00000340107.9 UniProtKB/Swiss-Prot
  ENST00000352904 ENTREZGENE
  ENST00000352904.6 UniProtKB/Swiss-Prot
  ENST00000440486 ENTREZGENE
  ENST00000440486.8 UniProtKB/Swiss-Prot
  ENST00000481110 ENTREZGENE
  ENST00000901225 ENTREZGENE
  ENST00000901226 ENTREZGENE
  ENST00000911470 ENTREZGENE
  ENST00000911473 ENTREZGENE
  ENST00000955403 ENTREZGENE
  ENST00000955404 ENTREZGENE
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  6.10.250.1740 UniProtKB/Swiss-Prot
  Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000068078 GTEx
HGNC ID HGNC:3690 ENTREZGENE
Human Proteome Map FGFR3 Human Proteome Map
InterPro FGF_rcpt_fam UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  RTK UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
KEGG Report hsa:2261 UniProtKB/Swiss-Prot
NCBI Gene 2261 ENTREZGENE
OMIM 134934 OMIM
PANTHER FIBROBLAST GROWTH FACTOR RECEPTOR 3 UniProtKB/Swiss-Prot
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot
Pfam FGFR3_TM UniProtKB/Swiss-Prot
  I-set UniProtKB/Swiss-Prot
  Ig_3 UniProtKB/Swiss-Prot
  Pkinase_Tyr UniProtKB/Swiss-Prot
PharmGKB PA28129 PharmGKB
PIRSF FGFR UniProtKB/Swiss-Prot
PRINTS TYRKINASE UniProtKB/Swiss-Prot
PROSITE IG_LIKE UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
  TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot
UniProt A0A3S5WLI4_HUMAN UniProtKB/TrEMBL
  A0A3S5XAL5_HUMAN UniProtKB/TrEMBL
  A0A5P8NAS4_HUMAN UniProtKB/TrEMBL
  A0A7I2RW32 ENTREZGENE, UniProtKB/TrEMBL
  A0N9W0_HUMAN UniProtKB/TrEMBL
  A8E633_HUMAN UniProtKB/TrEMBL
  D3DVP9 ENTREZGENE
  D3DVQ0 ENTREZGENE
  F8W9L4 ENTREZGENE, UniProtKB/TrEMBL
  FGFR3_HUMAN UniProtKB/Swiss-Prot
  I6LM06_HUMAN UniProtKB/TrEMBL
  P22607 ENTREZGENE
  Q0IJ44_HUMAN UniProtKB/TrEMBL
  Q14308 ENTREZGENE
  Q16294 ENTREZGENE
  Q16608 ENTREZGENE
  Q59FL9 ENTREZGENE
  Q8NI15_HUMAN UniProtKB/TrEMBL
  Q8NI16 ENTREZGENE, UniProtKB/TrEMBL
  Q96T34_HUMAN UniProtKB/TrEMBL
  Q96T35_HUMAN UniProtKB/TrEMBL
  Q96T36_HUMAN UniProtKB/TrEMBL
  Q9NRB6_HUMAN UniProtKB/TrEMBL
  X5D2G8 ENTREZGENE, UniProtKB/TrEMBL
  X5D2W2_HUMAN UniProtKB/TrEMBL
  X5D9H5_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DVP9 UniProtKB/Swiss-Prot
  D3DVQ0 UniProtKB/Swiss-Prot
  Q14308 UniProtKB/Swiss-Prot
  Q16294 UniProtKB/Swiss-Prot
  Q16608 UniProtKB/Swiss-Prot
  Q59FL9 UniProtKB/Swiss-Prot