IGF1R (insulin like growth factor 1 receptor) - Rat Genome Database

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Gene: IGF1R (insulin like growth factor 1 receptor) Homo sapiens
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Symbol: IGF1R
Name: insulin like growth factor 1 receptor
RGD ID: 68997
HGNC Page HGNC:5465
Description: Enables several functions, including insulin binding activity; insulin receptor binding activity; and insulin receptor substrate binding activity. Involved in several processes, including cellular response to amyloid-beta; insulin-like growth factor receptor signaling pathway; and regulation of intracellular signal transduction. Located in intracellular membrane-bounded organelle and membrane. Part of alphav-beta3 integrin-IGF-1-IGF1R complex; protein kinase complex; and receptor complex. Implicated in several diseases, including IgA glomerulonephritis; dementia (multiple); kidney cancer (multiple); liver disease (multiple); and toxic encephalopathy. Biomarker of several diseases, including Kuhnt-Junius degeneration; autoimmune disease (multiple); endocrine gland cancer (multiple); neurodegenerative disease (multiple); and prostate disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD221; IGF-I receptor; IGFIR; IGFR; insulin-like growth factor 1 receptor; insulin-like growth factor I receptor; JTK13; MGC142170; MGC142172; MGC18216; soluble IGF1R variant 1; soluble IGF1R variant 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381598,648,539 - 98,964,530 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1598,648,539 - 98,964,530 (+)EnsemblGRCh38hg38GRCh38
GRCh371599,191,768 - 99,507,759 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361597,010,284 - 97,325,282 (+)NCBINCBI36Build 36hg18NCBI36
Build 341597,010,287 - 97,319,034NCBI
Celera1575,609,678 - 75,924,704 (+)NCBICelera
Cytogenetic Map15q26.3NCBI
HuRef1575,320,348 - 75,635,223 (+)NCBIHuRef
CHM1_11599,034,201 - 99,349,171 (+)NCBICHM1_1
T2T-CHM13v2.01596,412,912 - 96,728,919 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (ISO)
adrenocortical carcinoma  (EXP)
alcoholic neuropathy  (ISO)
Alzheimer's disease  (EXP,IEP,ISO)
amyotrophic lateral sclerosis  (ISO)
atrial fibrillation  (EXP)
breast cancer  (IEP)
Breast Neoplasms  (EXP)
Burns  (ISO)
Cardiomegaly  (ISO)
cardiomyopathy  (ISO)
Carotid Artery Injuries  (ISO)
Choroidal Neovascularization  (ISO)
chromosome 15q26-qter deletion syndrome  (IAGP)
clear cell renal cell carcinoma  (IMP)
congenital diaphragmatic hernia  (EXP)
coronary stenosis  (ISO)
Craniosynostosis Syndrome, Autosomal Recessive  (IAGP)
cryptorchidism  (ISO)
dementia  (IAGP)
diabetes mellitus  (IEP,ISO)
Diabetic Nephropathies  (ISO)
diabetic retinopathy  (ISO)
Dwarfism  (IAGP)
Endometrial Neoplasms  (EXP)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
fetal alcohol spectrum disorder  (ISO)
Fetal Growth Retardation  (EXP,IAGP,ISO)
gastrinoma  (IEP)
gastroschisis  (ISO)
genetic disease  (IAGP)
gestational diabetes  (ISO)
Graves' disease  (IEP)
Growth Disorders  (EXP)
hepatocellular carcinoma  (EXP,IAGP)
high grade glioma  (IAGP)
Huntington's disease  (ISO)
Hyperphagia  (ISO)
hypertension  (ISO)
hyperthyroidism  (ISO)
hypertrophic cardiomyopathy  (IEP)
IgA glomerulonephritis  (IAGP)
IGF1R-RELATED DISORDER  (EXP,IAGP)
intellectual disability  (IAGP)
juvenile rheumatoid arthritis  (EXP)
keratoconus  (IAGP)
Kidney Reperfusion Injury  (ISO)
Knee Osteoarthritis  (IEP)
Kuhnt-Junius degeneration  (IEP)
Lewy body dementia  (EXP,IDA,IEP)
liver cirrhosis  (IAGP)
lung disease  (EXP)
Malocclusion  (ISO)
Metabolic Bone Diseases  (ISO)
metabolic dysfunction-associated steatotic liver disease  (ISO)
myeloid neoplasm  (EXP)
myocardial infarction  (ISO)
NATURAL KILLER CELL ENTEROPATHY  (IAGP)
Neoplasm Metastasis  (IEP)
Neoplastic Cell Transformation  (EXP)
nephroblastoma  (IEP,IMP)
neuroblastoma  (IMP)
Neurodevelopmental Disorders  (IAGP)
obesity  (ISO)
Optic Nerve Injuries  (ISO)
osteoarthritis  (IEP)
osteoporosis  (IDA)
pancreatic cancer  (IMP)
pancreatic ductal carcinoma  (IEP)
Parkinson's disease  (EXP,IEP,ISO)
peripheral nervous system disease  (EXP)
portal vein thrombosis  (IAGP)
Premature Aging  (ISO)
prostate adenocarcinoma  (IDA,IMP,ISO)
prostate cancer  (IEP)
prostate carcinoma  (ISO)
prostatic hypertrophy  (IEP)
Pulmonary Arterial Hypertension  (ISO)
renal cell carcinoma  (ISO)
respiratory failure  (EXP)
Right Ventricular Hypertrophy  (ISO)
Skin Neoplasms  (EXP)
Stroke  (IAGP)
toxic encephalopathy  (IAGP)
type 2 diabetes mellitus  (ISO)
ulcerative colitis  (IEP)
vascular dementia  (IAGP)
vesicoureteral reflux  (IEP)
Zollinger-Ellison syndrome  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(S)-naringenin  (EXP)
(S)-nicotine  (ISO)
(Z)-ligustilide  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 17-glucosiduronic acid  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2-deoxy-D-glucose  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxy-17beta-estradiol  (EXP)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5,6,7,8-tetrahydrofolic acid  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
acetamide  (ISO)
acetazolamide  (ISO)
afimoxifene  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
amino acid  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
AP20187  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP,ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
berberine  (EXP)
beta-hexachlorocyclohexane  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
BMS-754807  (EXP)
bortezomib  (EXP)
butan-1-ol  (EXP)
Butylparaben  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcitriol  (EXP)
capsaicin  (EXP)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
Chimaphylin  (EXP)
chitin  (EXP)
chloropicrin  (EXP)
chromium(6+)  (EXP)
chrysin  (ISO)
cisplatin  (EXP)
clodronic acid  (EXP)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corosolic acid  (ISO)
corticosterone  (ISO)
cortisol  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
cypermethrin  (EXP)
D-glucose  (EXP)
daidzein  (EXP)
dapsone  (EXP)
DDE  (EXP)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dihydrofolic acid  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diquat  (ISO)
Doramectin  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
enzacamene  (ISO)
enzalutamide  (EXP)
equol  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
everolimus  (EXP)
fenpyroximate  (EXP)
fenvalerate  (ISO)
folic acid  (EXP,ISO)
folpet  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fructose  (ISO)
fulvestrant  (EXP,ISO)
gallic acid  (EXP)
gefitinib  (EXP)
gemcitabine  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
Ginkgoic acid  (EXP)
glucose  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
herbicide  (ISO)
hexachlorobenzene  (EXP,ISO)
hydrogen peroxide  (ISO)
Indeno[1,2,3-cd]pyrene  (EXP)
indometacin  (ISO)
isoflurane  (ISO)
isoprenaline  (ISO)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
leuprolide  (EXP)
linuron  (ISO)
lipopolysaccharide  (ISO)
lovastatin  (ISO)
lycopene  (EXP)
manganese(II) chloride  (ISO)
maslinic acid  (ISO)
masoprocol  (EXP)
melatonin  (ISO)
menadione  (EXP)
metformin  (EXP,ISO)
methcathinone  (EXP)
methimazole  (EXP,ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP,ISO)
mifepristone  (EXP)
mitoxantrone  (EXP)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
Myrtucommulone A  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
nickel subsulfide  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
nilutamide  (ISO)
nitrofen  (ISO)
nitrogen mustard  (EXP)
ochratoxin A  (ISO)
Octicizer  (EXP,ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
palbociclib  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
picolinic acid  (ISO)
picoxystrobin  (EXP)
picropodophyllotoxin  (EXP,ISO)
piperine  (EXP)
platycodin D  (EXP)
potassium chromate  (EXP)
progesterone  (EXP,ISO)
propiconazole  (ISO)
pyrimidifen  (EXP)
quercetin  (EXP,ISO)
quercitrin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP,ISO)
RU 58668  (EXP)
rutin  (EXP)
SB 431542  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
simvastatin  (EXP,ISO)
sirolimus  (EXP)
sirtinol  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sophoraflavanone B  (ISO)
sorafenib  (EXP)
streptozocin  (ISO)
succimer  (EXP)
sucrose  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tanespimycin  (EXP,ISO)
tebufenpyrad  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP)
thyroxine  (ISO)
trichostatin A  (EXP)
triclosan  (ISO)
triphenyl phosphate  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP,ISO)
zinc atom  (EXP,ISO)
zinc sulfate  (EXP)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (ISO)
amyloid-beta clearance  (IMP)
animal organ morphogenesis  (ISO)
axonogenesis  (IEA,ISO)
brain development  (ISO)
cardiac atrium development  (IEA,ISO)
cell surface receptor protein tyrosine kinase signaling pathway  (IEA)
cellular response to aldosterone  (IEA,ISO)
cellular response to amyloid-beta  (IGI)
cellular response to angiotensin  (IEA,ISO)
cellular response to dexamethasone stimulus  (IEA,ISO)
cellular response to estradiol stimulus  (IEA,ISO)
cellular response to glucose stimulus  (IBA,IEA,ISO)
cellular response to insulin stimulus  (IEA,ISO)
cellular response to insulin-like growth factor stimulus  (IEA,ISO)
cellular response to mechanical stimulus  (IEA,ISO)
cellular response to progesterone stimulus  (IEA,ISO)
cellular response to testosterone stimulus  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
cellular response to zinc ion starvation  (IEA,ISO)
cellular senescence  (IEA,ISO)
cerebellum development  (IEA,ISO)
dendritic spine maintenance  (IEA,ISS)
epidermis development  (ISO)
establishment of cell polarity  (IEA,ISO)
estrous cycle  (IEA,ISO)
exocrine pancreas development  (ISO)
hippocampus development  (IEA,ISO)
immune response  (IMP)
insulin receptor signaling pathway  (IEA,ISS,TAS)
insulin-like growth factor receptor signaling pathway  (IBA,IDA,IEA,TAS)
male sex determination  (ISO)
mammary gland development  (ISO)
MAPK cascade  (ISO)
mitotic nuclear division  (ISO)
negative regulation of apoptotic process  (IDA,TAS)
negative regulation of cholangiocyte apoptotic process  (IEA,ISO)
negative regulation of hepatocyte apoptotic process  (IEA,ISO)
negative regulation of MAPK cascade  (IDA,ISO)
negative regulation of muscle cell apoptotic process  (IEA,ISO)
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (ISO)
neuron projection development  (IEA,ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IC,ISO)
positive regulation of axon regeneration  (IEA,ISO)
positive regulation of cell migration  (IMP)
positive regulation of cell population proliferation  (IMP,TAS)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of cytokinesis  (IEA,ISO)
positive regulation of developmental growth  (ISO)
positive regulation of DNA metabolic process  (IEA,ISO)
positive regulation of DNA-templated transcription  (ISO)
positive regulation of MAPK cascade  (IBA,IEA,ISO)
positive regulation of meiotic cell cycle  (ISO)
positive regulation of mitotic nuclear division  (ISO)
positive regulation of osteoblast proliferation  (IEA,ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IBA,IDA,IEA,ISO)
positive regulation of protein-containing complex disassembly  (IEA,ISS)
positive regulation of smooth muscle cell proliferation  (IEA,ISO)
positive regulation of steroid hormone biosynthetic process  (IEA)
postsynaptic modulation of chemical synaptic transmission  (ISO)
prostate gland epithelium morphogenesis  (ISO)
regulation of JNK cascade  (IBA,IDA,IEA)
response to alkaloid  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to hormone  (IEA,ISO)
response to insulin  (IEA,ISO)
response to L-glutamate  (IEA,ISO)
response to nicotine  (IEA,ISO)
response to nutrient levels  (IEA,ISO)
response to vitamin E  (IEA,ISO)
signal transduction  (TAS)
transcytosis  (IMP)

Cellular Component

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

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal rib cage morphology  (IAGP)
Agitation  (IAGP)
Anxiety  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Broad nasal tip  (IAGP)
Clinodactyly  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Decreased body weight  (IAGP)
Deeply set eye  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Diabetes mellitus  (IAGP)
Everted lower lip vermilion  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
High palate  (IAGP)
High pitched voice  (IAGP)
Highly arched eyebrow  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Increased circulating insulin-like growth factor 1 concentration  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Keratoconus  (IAGP)
Lipodystrophy  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Narrow mouth  (IAGP)
Patent foramen ovale  (IAGP)
Pectus excavatum  (IAGP)
Postnatal growth retardation  (IAGP)
Radial deviation of finger  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Retrognathia  (IAGP)
Rieger anomaly  (IAGP)
Sandal gap  (IAGP)
Severe short stature  (IAGP)
Short finger  (IAGP)
Short foot  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Sparse scalp hair  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Thick eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Triangular face  (IAGP)
Truncal obesity  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. Abuzzahab MJ, etal., N Engl J Med. 2003 Dec 4;349(23):2211-22.
2. IGF-1R associates with adverse outcomes after radical radiotherapy for prostate cancer. Aleksic T, etal., Br J Cancer. 2017 Nov 21;117(11):1600-1606. doi: 10.1038/bjc.2017.337. Epub 2017 Oct 3.
3. Effect of testicular damage induced by cryptorchidism on insulin-like growth factor I receptors in rat Sertoli cells. Antich M, etal., J Reprod Fertil. 1995 Jul;104(2):267-75.
4. Myocardial infarction and the myocyte IGF1 autocrine system. Anversa P, etal., Eur Heart J. 1995 Dec;16 Suppl N:37-45.
5. Oxidative stress activates insulin-like growth factor I receptor protein expression, mediating cardiac hypertrophy induced by thyroxine. Araujo AS, etal., Mol Cell Biochem. 2007 Sep;303(1-2):89-95. Epub 2007 Apr 20.
6. Dependence of Wilms tumor cells on signaling through insulin-like growth factor 1 in an orthotopic xenograft model targetable by specific receptor inhibition. Bielen A, etal., Proc Natl Acad Sci U S A. 2012 May 15;109(20):E1267-76. doi: 10.1073/pnas.1105034109. Epub 2012 Apr 23.
7. IGF-I binding proteins, IGF-I binding protein mRNA and IGF-I receptor mRNA in rats with acute renal failure given IGF-I. Bohe J, etal., Kidney Int. 1998 Oct;54(4):1070-82.
8. Mechanisms of peripheral neuropathy associated with bortezomib and vincristine in patients with newly diagnosed multiple myeloma: a prospective analysis of data from the HOVON-65/GMMG-HD4 trial. Broyl A, etal., Lancet Oncol. 2010 Nov;11(11):1057-65. Epub 2010 Sep 21.
9. Expression of insulin-like growth factor 1 receptor in rat retina following optic nerve injury. Bu SY, etal., Acta Ophthalmol. 2013 Sep;91(6):e427-31. doi: 10.1111/aos.12096. Epub 2013 May 7.
10. The role of gut-liver axis in the restriction of intrauterine growth in a model of experimental gastroschisis. Bueno MP, etal., Acta Cir Bras. 2013;28 Suppl 1:3-7.
11. Antisense RNA to the type I insulin-like growth factor receptor suppresses tumor growth and prevents invasion by rat prostate cancer cells in vivo. Burfeind P, etal., Proc Natl Acad Sci U S A. 1996 Jul 9;93(14):7263-8.
12. Defective IGF2 and IGF1R protein production in embryonic pancreas precedes beta cell mass anomaly in the Goto-Kakizaki rat model of type 2 diabetes. Calderari S, etal., Diabetologia. 2007 Jul;50(7):1463-71. Epub 2007 May 3.
13. Blockade of the insulin-like growth factor I receptor in the choroid plexus originates Alzheimer's-like neuropathology in rodents: new cues into the human disease? Carro E, etal., Neurobiol Aging. 2006 Nov;27(11):1618-31. Epub 2005 Nov 7.
14. Insulin-like growth factor-1 receptor polymorphism and ischemic stroke: a case-control study in Chinese population. Cheng J, etal., Acta Neurol Scand. 2008 Nov;118(5):333-8. Epub 2008 May 9.
15. Insulin-like growth factor-1 expression in reflux nephropathy. Chertin B, etal., Pediatr Surg Int. 2004 Apr;20(4):283-9. Epub 2004 Feb 4.
16. Reducing Igf-1r levels leads to paradoxical and sexually dimorphic effects in HD mice. Corrochano S, etal., PLoS One. 2014 Aug 20;9(8):e105595. doi: 10.1371/journal.pone.0105595. eCollection 2014.
17. Renal carcinogenesis in models of diabetes in rats: metabolic changes are closely related to neoplastic development. Dombrowski F, etal., Diabetologia. 2007 Dec;50(12):2580-90. Epub 2007 Oct 19.
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PMID:21972777   PMID:21988832   PMID:21994939   PMID:22020193   PMID:22020329   PMID:22033326   PMID:22042973   PMID:22044563   PMID:22058336   PMID:22115178   PMID:22115966   PMID:22120672  
PMID:22128190   PMID:22130793   PMID:22133293   PMID:22140443   PMID:22146489   PMID:22161861   PMID:22172258   PMID:22179513   PMID:22188815   PMID:22194466   PMID:22218435   PMID:22235273  
PMID:22245152   PMID:22246875   PMID:22261717   PMID:22268729   PMID:22275271   PMID:22285568   PMID:22303694   PMID:22309212   PMID:22325222   PMID:22335030   PMID:22336232   PMID:22339909  
PMID:22343486   PMID:22348393   PMID:22354554   PMID:22372631   PMID:22394253   PMID:22406993   PMID:22419550   PMID:22424712   PMID:22438913   PMID:22495974   PMID:22506015   PMID:22508822  
PMID:22509025   PMID:22541124   PMID:22555179   PMID:22572840   PMID:22614005   PMID:22623732   PMID:22626974   PMID:22635104   PMID:22682017   PMID:22685298   PMID:22700994   PMID:22710713  
PMID:22738321   PMID:22767591   PMID:22777769   PMID:22825921   PMID:22875931   PMID:22879999   PMID:22892600   PMID:22894899   PMID:22909219   PMID:22931894   PMID:22932330   PMID:22935141  
PMID:22939624   PMID:22939629   PMID:22972910   PMID:22998174   PMID:23056576   PMID:23082760   PMID:23106397   PMID:23109135   PMID:23118311   PMID:23152410   PMID:23188799   PMID:23190452  
PMID:23239200   PMID:23250396   PMID:23252569   PMID:23263486   PMID:23266446   PMID:23288662   PMID:23314677   PMID:23331867   PMID:23354097   PMID:23360921   PMID:23365645   PMID:23373509  
PMID:23374155   PMID:23382219   PMID:23395167   PMID:23402816   PMID:23404184   PMID:23416929   PMID:23418605   PMID:23431408   PMID:23453369   PMID:23460259   PMID:23486542   PMID:23506534  
PMID:23507142   PMID:23515613   PMID:23526299   PMID:23527719   PMID:23531874   PMID:23539445   PMID:23548939   PMID:23549953   PMID:23564324   PMID:23619944   PMID:23663564   PMID:23664098  
PMID:23675407   PMID:23689439   PMID:23696648   PMID:23704881   PMID:23710710   PMID:23724116   PMID:23730215   PMID:23744486   PMID:23782942   PMID:23792093   PMID:23797814   PMID:23801064  
PMID:23814047   PMID:23817810   PMID:23818948   PMID:23821363   PMID:23823800   PMID:23831640   PMID:23857432   PMID:23861377   PMID:23861540   PMID:23867124   PMID:23873272   PMID:23879873  
PMID:23899556   PMID:23928059   PMID:23962053   PMID:23974362   PMID:23980150   PMID:23983239   PMID:23989734   PMID:23990442   PMID:23994953   PMID:24013232   PMID:24026884   PMID:24039934  
PMID:24039995   PMID:24051437   PMID:24055032   PMID:24065146   PMID:24127040   PMID:24130778   PMID:24135282   PMID:24186206   PMID:24206174   PMID:24219294   PMID:24222252   PMID:24227890  
PMID:24250812   PMID:24266654   PMID:24282274   PMID:24285539   PMID:24307738   PMID:24324762   PMID:24336871   PMID:24351920   PMID:24354797   PMID:24378652   PMID:24379526   PMID:24392142  
PMID:24410957   PMID:24438088   PMID:24458568   PMID:24489728   PMID:24489919   PMID:24571711   PMID:24599933   PMID:24637962   PMID:24655723   PMID:24667580   PMID:24683100   PMID:24713135  
PMID:24745611   PMID:24745618   PMID:24745653   PMID:24751329   PMID:24770843   PMID:24801045   PMID:24809298   PMID:24809702   PMID:24810113   PMID:24811788   PMID:24870578   PMID:24874051  
PMID:24909165   PMID:24922664   PMID:24939178   PMID:24956249   PMID:24970814   PMID:24973425   PMID:24997432   PMID:24999188   PMID:24999547   PMID:25017244   PMID:25040157   PMID:25050889  
PMID:25053419   PMID:25081697   PMID:25081930   PMID:25090459   PMID:25092925   PMID:25096247   PMID:25110710   PMID:25115504   PMID:25117070   PMID:25118293   PMID:25119174   PMID:25153223  
PMID:25175038   PMID:25184138   PMID:25187374   PMID:25189651   PMID:25211187   PMID:25241146   PMID:25241761   PMID:25268741   PMID:25274331   PMID:25305490   PMID:25322858   PMID:25339573  
PMID:25341922   PMID:25344917   PMID:25348345   PMID:25362932   PMID:25381040   PMID:25388513   PMID:25391374   PMID:25394492   PMID:25400749   PMID:25416956   PMID:25425114   PMID:25429064  
PMID:25446090   PMID:25473182   PMID:25474488   PMID:25483727   PMID:25492481   PMID:25520502   PMID:25556445   PMID:25564572   PMID:25593300   PMID:25604425   PMID:25609710   PMID:25613038  
PMID:25617986   PMID:25619494   PMID:25640309   PMID:25680198   PMID:25693802   PMID:25693948   PMID:25739014   PMID:25758790   PMID:25780292   PMID:25786252   PMID:25824321   PMID:25852271  
PMID:25866162   PMID:25884514   PMID:25896444   PMID:25916750   PMID:25921289   PMID:26012212   PMID:26025408   PMID:26027733   PMID:26075254   PMID:26082409   PMID:26089099   PMID:26097570  
PMID:26112748   PMID:26138883   PMID:26148588   PMID:26165226   PMID:26173023   PMID:26183824   PMID:26191333   PMID:26211576   PMID:26219921   PMID:26232605   PMID:26252249   PMID:26286172  
PMID:26291053   PMID:26297026   PMID:26297545   PMID:26304632   PMID:26306402   PMID:26311784   PMID:26332491   PMID:26337161   PMID:26342551   PMID:26344197   PMID:26348925   PMID:26430715  
PMID:26438154   PMID:26450156   PMID:26455324   PMID:26463630   PMID:26496610   PMID:26497996   PMID:26536657   PMID:26554308   PMID:26554827   PMID:26563994   PMID:26584640   PMID:26648141  
PMID:26655273   PMID:26656446   PMID:26662570   PMID:26663878   PMID:26670433   PMID:26689622   PMID:26692333   PMID:26701791   PMID:26706833   PMID:26722410   PMID:26738606   PMID:26745129  
PMID:26760116   PMID:26801096   PMID:26804175   PMID:26826001   PMID:26840943   PMID:26845446   PMID:26850678   PMID:26861122   PMID:26862168   PMID:26862994   PMID:26868851   PMID:26884344  
PMID:26898459   PMID:26910308   PMID:26976474   PMID:26991004   PMID:27013635   PMID:27044882   PMID:27048245   PMID:27088794   PMID:27089502   PMID:27091859   PMID:27105537   PMID:27105918  
PMID:27129171   PMID:27144430   PMID:27172746   PMID:27177336   PMID:27180807   PMID:27185872   PMID:27213344   PMID:27226530   PMID:27232975   PMID:27246621   PMID:27255663   PMID:27272834  
PMID:27275536   PMID:27285981   PMID:27299695   PMID:27312358   PMID:27326759   PMID:27353258   PMID:27373487   PMID:27384677   PMID:27384680   PMID:27472395   PMID:27502396   PMID:27510031  
PMID:27532210   PMID:27586516   PMID:27590586   PMID:27623941   PMID:27644646   PMID:27684187   PMID:27716204   PMID:27812134   PMID:27813495   PMID:27819360   PMID:27833148   PMID:27836546  
PMID:27891760   PMID:27896672   PMID:27903254   PMID:27956702   PMID:27979966   PMID:28007906   PMID:28030849   PMID:28050756   PMID:28065597   PMID:28075048   PMID:28079144   PMID:28092675  
PMID:28096202   PMID:28096479   PMID:28188432   PMID:28193878   PMID:28202495   PMID:28205554   PMID:28213921   PMID:28218468   PMID:28223169   PMID:28266043   PMID:28277190   PMID:28319085  
PMID:28319113   PMID:28328831   PMID:28348046   PMID:28349238   PMID:28351623   PMID:28364785   PMID:28365890   PMID:28382840   PMID:28389567   PMID:28395282   PMID:28417283   PMID:28418902  
PMID:28439706   PMID:28440508   PMID:28447314   PMID:28468775   PMID:28498399   PMID:28498434   PMID:28514442   PMID:28544544   PMID:28545426   PMID:28555617   PMID:28581517   PMID:28583713  
PMID:28611215   PMID:28624790   PMID:28637688   PMID:28651495   PMID:28656297   PMID:28696156   PMID:28714005   PMID:28729397   PMID:28742836   PMID:28743112   PMID:28745651   PMID:28757207  
PMID:28766847   PMID:28795385   PMID:28800315   PMID:28802228   PMID:28810236   PMID:28822014   PMID:28830678   PMID:28873464   PMID:28924044   PMID:28932920   PMID:28945762   PMID:28946136  
PMID:28952285   PMID:29039467   PMID:29051069   PMID:29054976   PMID:29117863   PMID:29126188   PMID:29150385   PMID:29180608   PMID:29180619   PMID:29217764   PMID:29225160   PMID:29226546  
PMID:29257334   PMID:29278769   PMID:29328495   PMID:29421153   PMID:29470850   PMID:29483580   PMID:29507755   PMID:29518496   PMID:29523594   PMID:29524179   PMID:29530981   PMID:29540831  
PMID:29559623   PMID:29560723   PMID:29572229   PMID:29608283   PMID:29615365   PMID:29621572   PMID:29642855   PMID:29650947   PMID:29661273   PMID:29687007   PMID:29716918   PMID:29735545  
PMID:29743626   PMID:29779108   PMID:29789409   PMID:29886785   PMID:29892839   PMID:29901181   PMID:29951828   PMID:29989645   PMID:29991678   PMID:30053089   PMID:30056117   PMID:30063751  
PMID:30078228   PMID:30119887   PMID:30165429   PMID:30167815   PMID:30213860   PMID:30231881   PMID:30300116   PMID:30338032   PMID:30338346   PMID:30350263   PMID:30365147   PMID:30371738  
PMID:30374732   PMID:30397176   PMID:30431074   PMID:30458886   PMID:30515804   PMID:30594023   PMID:30628637   PMID:30653502   PMID:30657555   PMID:30664191   PMID:30682326   PMID:30848790  
PMID:30898150   PMID:30926641   PMID:30945690   PMID:31034883   PMID:31102265   PMID:31113820   PMID:31115568   PMID:31122679   PMID:31126198   PMID:31128030   PMID:31160483   PMID:31177400  
PMID:31184820   PMID:31190579   PMID:31207081   PMID:31235784   PMID:31305292   PMID:31318186   PMID:31357837   PMID:31366500   PMID:31374070   PMID:31443963   PMID:31508890   PMID:31539124  
PMID:31558604   PMID:31586944   PMID:31661546   PMID:31680140   PMID:31702994   PMID:31705876   PMID:31724454   PMID:31728045   PMID:31738383   PMID:31743769   PMID:31758670   PMID:31771180  
PMID:31818070   PMID:31823290   PMID:31847392   PMID:31875653   PMID:31894289   PMID:31898360   PMID:31941753   PMID:32027876   PMID:32029900   PMID:32033461   PMID:32037650   PMID:32060422  
PMID:32062451   PMID:32142859   PMID:32150843   PMID:32154665   PMID:32200486   PMID:32202300   PMID:32271414   PMID:32275863   PMID:32296183   PMID:32308049   PMID:32343508   PMID:32349525  
PMID:32356191   PMID:32417396   PMID:32457113   PMID:32458278   PMID:32467173   PMID:32467349   PMID:32482028   PMID:32493414   PMID:32494007   PMID:32495406   PMID:32546241   PMID:32570949  
PMID:32572901   PMID:32583001   PMID:32700452   PMID:32701997   PMID:32705168   PMID:32708730   PMID:32710851   PMID:32727431   PMID:32734536   PMID:32843616   PMID:32945416   PMID:32971893  
PMID:33007330   PMID:33085926   PMID:33113547   PMID:33116033   PMID:33143702   PMID:33145961   PMID:33158816   PMID:33168159   PMID:33273014   PMID:33349156   PMID:33415003   PMID:33428936  
PMID:33429867   PMID:33477820   PMID:33477899   PMID:33554951   PMID:33637620   PMID:33674778   PMID:33762435   PMID:33894267   PMID:33932050   PMID:33961781   PMID:33991522   PMID:34036380  
PMID:34074726   PMID:34079125   PMID:34092618   PMID:34108663   PMID:34165167   PMID:34185427   PMID:34218203   PMID:34320244   PMID:34328198   PMID:34373451   PMID:34438446   PMID:34591642  
PMID:34600083   PMID:34614499   PMID:34663464   PMID:34672999   PMID:34706132   PMID:34709727   PMID:34747545   PMID:34854210   PMID:34857952   PMID:34876132   PMID:34891198   PMID:34915523  
PMID:34988853   PMID:35030978   PMID:35083738   PMID:35154476   PMID:35199365   PMID:35211808   PMID:35256949   PMID:35271311   PMID:35300993   PMID:35325324   PMID:35362533   PMID:35384245  
PMID:35460500   PMID:35563538   PMID:35688943   PMID:35696571   PMID:35710446   PMID:35748872   PMID:35749888   PMID:35780715   PMID:35784559   PMID:35786404   PMID:35831314   PMID:35887382  
PMID:35931675   PMID:35931997   PMID:35970994   PMID:36042202   PMID:36054916   PMID:36084573   PMID:36106406   PMID:36189799   PMID:36243800   PMID:36331687   PMID:36332473   PMID:36335114  
PMID:36542208   PMID:36543142   PMID:36548088   PMID:36598389   PMID:36648607   PMID:36698167   PMID:36736316   PMID:36931259   PMID:37018819   PMID:37081542   PMID:37173768   PMID:37474760  
PMID:37477779   PMID:37490874   PMID:37497005   PMID:37511378   PMID:37522970   PMID:37724583   PMID:37752233   PMID:37777542   PMID:37848931   PMID:37950511   PMID:38036052   PMID:38231539  
PMID:38347000   PMID:38425288  


Genomics

Comparative Map Data
IGF1R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381598,648,539 - 98,964,530 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1598,648,539 - 98,964,530 (+)EnsemblGRCh38hg38GRCh38
GRCh371599,191,768 - 99,507,759 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361597,010,284 - 97,325,282 (+)NCBINCBI36Build 36hg18NCBI36
Build 341597,010,287 - 97,319,034NCBI
Celera1575,609,678 - 75,924,704 (+)NCBICelera
Cytogenetic Map15q26.3NCBI
HuRef1575,320,348 - 75,635,223 (+)NCBIHuRef
CHM1_11599,034,201 - 99,349,171 (+)NCBICHM1_1
T2T-CHM13v2.01596,412,912 - 96,728,919 (+)NCBIT2T-CHM13v2.0
Igf1r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39767,601,486 - 67,883,416 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl767,602,575 - 67,883,416 (+)EnsemblGRCm39 Ensembl
GRCm38767,952,257 - 68,233,668 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl767,952,827 - 68,233,668 (+)EnsemblGRCm38mm10GRCm38
MGSCv37775,097,143 - 75,378,553 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36767,826,372 - 68,100,293 (+)NCBIMGSCv36mm8
Celera765,407,649 - 65,690,413 (+)NCBICelera
Cytogenetic Map7CNCBI
cM Map737.27NCBI
Igf1r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81130,959,787 - 131,248,664 (+)NCBIGRCr8
mRatBN7.21121,549,831 - 121,838,548 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1121,550,743 - 121,831,777 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1129,548,259 - 129,834,935 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01136,718,334 - 137,005,027 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01129,519,288 - 129,805,989 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01128,924,921 - 129,213,816 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1128,924,966 - 129,206,516 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01129,985,761 - 130,272,589 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41122,704,976 - 122,990,007 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11122,783,318 - 123,068,350 (+)NCBI
Celera1113,751,636 - 114,029,884 (+)NCBICelera
Cytogenetic Map1q22NCBI
Igf1r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541626,102,628 - 26,382,666 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541626,101,090 - 26,382,660 (-)NCBIChiLan1.0ChiLan1.0
IGF1R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21688,195,825 - 88,510,506 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11591,892,588 - 92,207,137 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01577,332,926 - 77,648,474 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11596,576,930 - 96,832,974 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1596,535,164 - 96,832,974 (+)Ensemblpanpan1.1panPan2
IGF1R
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1341,795,337 - 42,096,255 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl341,794,623 - 42,090,387 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha344,494,039 - 44,797,005 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0342,203,106 - 42,506,274 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl342,203,091 - 42,501,470 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1341,727,974 - 42,030,799 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0341,958,900 - 42,261,698 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0342,179,556 - 42,481,580 (+)NCBIUU_Cfam_GSD_1.0
Igf1r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640141,474,253 - 141,770,018 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364834,564,512 - 4,852,925 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364834,563,995 - 4,860,231 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGF1R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1137,387,825 - 137,691,058 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11137,383,623 - 137,691,038 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21153,523,944 - 153,853,776 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap1q17-q21NCBI
IGF1R
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12917,212,206 - 17,534,036 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2917,459,404 - 17,526,930 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605929,058,966 - 29,370,219 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Igf1r
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247685,396,156 - 5,681,809 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247685,396,027 - 5,688,435 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IGF1R
790 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV002226551]|Intellectual disability [RCV001526562]|not provided [RCV002463013] Chr15:98896896 [GRCh38]
Chr15:99440125 [GRCh37]
Chr15:15q26.3
pathogenic|likely pathogenic
NM_000875.5(IGF1R):c.119G>T (p.Arg40Leu) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000516171] Chr15:98707586 [GRCh38]
Chr15:99250815 [GRCh37]
Chr15:15q26.3
protective
NM_000875.5(IGF1R):c.413G>A (p.Arg138Gln) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000015913] Chr15:98707880 [GRCh38]
Chr15:99251109 [GRCh37]
Chr15:15q26.3
pathogenic|protective
NM_000875.5(IGF1R):c.435A>C (p.Lys145Asn) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000015914] Chr15:98707902 [GRCh38]
Chr15:99251131 [GRCh37]
Chr15:15q26.3
pathogenic|protective
NM_000875.5(IGF1R):c.265C>T (p.Arg89Ter) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000015915] Chr15:98707732 [GRCh38]
Chr15:99250961 [GRCh37]
Chr15:15q26.3
pathogenic|protective
NM_000875.5(IGF1R):c.2216G>A (p.Arg739Gln) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000015916] Chr15:98922162 [GRCh38]
Chr15:99465391 [GRCh37]
Chr15:15q26.3
pathogenic|protective
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000015917]|not provided [RCV000487894]|not specified [RCV001818163] Chr15:98911384 [GRCh38]
Chr15:99454613 [GRCh37]
Chr15:15q26.3
pathogenic|likely benign|conflicting interpretations of pathogenicity|protective|uncertain significance
NM_000875.5(IGF1R):c.2815G>A (p.Ala939Thr) single nucleotide variant not provided [RCV000729621] Chr15:98929590 [GRCh38]
Chr15:99472819 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.358T>G (p.Phe120Val) single nucleotide variant not provided [RCV000522425] Chr15:98707825 [GRCh38]
Chr15:99251054 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3722+5G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331400]|not provided [RCV002469375] Chr15:98948713 [GRCh38]
Chr15:99491942 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.4(IGF1R):c.2957-633A>T single nucleotide variant Lung cancer [RCV000099792] Chr15:98934191 [GRCh38]
Chr15:99477420 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3 copy number gain See cases [RCV000050851] Chr15:94033008..101843270 [GRCh38]
Chr15:94576237..102383473 [GRCh37]
Chr15:92377241..100200996 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98364684-99338342)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052366]|See cases [RCV000052366] Chr15:98364684..99338342 [GRCh38]
Chr15:98907913..99878547 [GRCh37]
Chr15:96725436..97696070 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98909148-99173160)x1 copy number loss See cases [RCV000051971] Chr15:98909148..99173160 [GRCh38]
Chr15:99452377..99713365 [GRCh37]
Chr15:97269900..97530888 [NCBI36]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1 copy number loss See cases [RCV000053228] Chr15:96069425..101849578 [GRCh38]
Chr15:96612654..102389781 [GRCh37]
Chr15:94413658..100207304 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1 copy number loss See cases [RCV000053244] Chr15:96329791..101849578 [GRCh38]
Chr15:96873020..102389781 [GRCh37]
Chr15:94674024..100207304 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1 copy number loss See cases [RCV000053245] Chr15:96913979..101843411 [GRCh38]
Chr15:97457209..102383614 [GRCh37]
Chr15:95258213..100201137 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1 copy number loss See cases [RCV000053246] Chr15:97735430..101810992 [GRCh38]
Chr15:98278660..102351195 [GRCh37]
Chr15:96079664..100168718 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1 copy number loss See cases [RCV000053247] Chr15:98845807..101843270 [GRCh38]
Chr15:99389036..102383473 [GRCh37]
Chr15:97206559..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98926805-101843270)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|See cases [RCV000053248] Chr15:98926805..101843270 [GRCh38]
Chr15:99470034..102383473 [GRCh37]
Chr15:97287557..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.127T>C (p.Tyr43His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331395] Chr15:98707594 [GRCh38]
Chr15:99250823 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1762A>G (p.Met588Val) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331396] Chr15:98913216 [GRCh38]
Chr15:99456445 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2298C>T (p.Thr766=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000266494]|not provided [RCV001723746]|not specified [RCV000174019] Chr15:98922244 [GRCh38]
Chr15:99465473 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000279116]|not provided [RCV002054062]|not specified [RCV000175020] Chr15:98934996 [GRCh38]
Chr15:99478225 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.2700C>T (p.Asn900=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000376170]|not provided [RCV000973103]|not specified [RCV000174496] Chr15:98924602 [GRCh38]
Chr15:99467831 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115986]|not provided [RCV000948430]|not specified [RCV000180532] Chr15:98916049 [GRCh38]
Chr15:99459278 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118944]|not provided [RCV000513938]|not specified [RCV000179350] Chr15:98908747 [GRCh38]
Chr15:99451976 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.1474G>A (p.Val492Ile) single nucleotide variant not provided [RCV000888586]|not specified [RCV000179790] Chr15:98911326 [GRCh38]
Chr15:99454555 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.737C>T (p.Thr246Met) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331402] Chr15:98891421 [GRCh38]
Chr15:99434650 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1732G>A (p.Ala578Thr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001293682] Chr15:98913186 [GRCh38]
Chr15:99456415 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.236C>T (p.Thr79Met) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331399] Chr15:98707703 [GRCh38]
Chr15:99250932 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=) single nucleotide variant not provided [RCV000173715] Chr15:98916796 [GRCh38]
Chr15:99460025 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1 copy number loss See cases [RCV000133733] Chr15:93198717..101843270 [GRCh38]
Chr15:93741946..102383473 [GRCh37]
Chr15:91542950..100200996 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98236665-98976591)x3 copy number gain See cases [RCV000135388] Chr15:98236665..98976591 [GRCh38]
Chr15:98779894..99519820 [GRCh37]
Chr15:96597417..97337343 [NCBI36]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1 copy number loss See cases [RCV000135397] Chr15:97014065..101843270 [GRCh38]
Chr15:97557295..102383473 [GRCh37]
Chr15:95358299..100200996 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98764412-99075036)x3 copy number gain See cases [RCV000135647] Chr15:98764412..99075036 [GRCh38]
Chr15:99307641..99529036 [GRCh37]
Chr15:97125164..97435788 [NCBI36]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98900305-99156016)x1 copy number loss See cases [RCV000136080] Chr15:98900305..99156016 [GRCh38]
Chr15:99443534..99696221 [GRCh37]
Chr15:97261057..97513744 [NCBI36]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1 copy number loss See cases [RCV000136864] Chr15:95770627..101810992 [GRCh38]
Chr15:96313856..102351195 [GRCh37]
Chr15:94114860..100168718 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3 copy number gain See cases [RCV000137352] Chr15:97783828..100780256 [GRCh38]
Chr15:98327058..101320461 [GRCh37]
Chr15:96128062..99137984 [NCBI36]
Chr15:15q26.2-26.3
likely pathogenic
NM_000875.5(IGF1R):c.3416G>A (p.Arg1139Gln) single nucleotide variant not provided [RCV000175277] Chr15:98939319 [GRCh38]
Chr15:99482548 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q26.3(chr15:98669058-98873604)x3 copy number gain See cases [RCV000138234] Chr15:98669058..98873604 [GRCh38]
Chr15:99212287..99416833 [GRCh37]
Chr15:97029810..97234356 [NCBI36]
Chr15:15q26.3
likely pathogenic
GRCh38/hg38 15q26.3(chr15:98873545-99363146)x3 copy number gain See cases [RCV000138317] Chr15:98873545..99363146 [GRCh38]
Chr15:99416774..99903351 [GRCh37]
Chr15:97234297..97720874 [NCBI36]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1 copy number loss See cases [RCV000139666] Chr15:97941427..101797926 [GRCh38]
Chr15:98484657..102338129 [GRCh37]
Chr15:96285661..100155652 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1 copy number loss See cases [RCV000141263] Chr15:97172754..101920998 [GRCh38]
Chr15:97715984..102461201 [GRCh37]
Chr15:95516988..100278724 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 copy number gain See cases [RCV000141431] Chr15:93041524..101941326 [GRCh38]
Chr15:93584754..102481529 [GRCh37]
Chr15:91385758..100299052 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3 copy number gain See cases [RCV000140658] Chr15:97283711..101920998 [GRCh38]
Chr15:97826941..102461201 [GRCh37]
Chr15:95627945..100278724 [NCBI36]
Chr15:15q26.2-26.3
likely pathogenic
GRCh38/hg38 15q26.3(chr15:98892707-99182753)x1 copy number loss See cases [RCV000141923] Chr15:98892707..99182753 [GRCh38]
Chr15:99435936..99722958 [GRCh37]
Chr15:97253459..97540481 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1 copy number loss See cases [RCV000143088] Chr15:96024127..101920998 [GRCh38]
Chr15:96567356..102461201 [GRCh37]
Chr15:94368360..100278724 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1 copy number loss See cases [RCV000142728] Chr15:98467297..101843270 [GRCh38]
Chr15:99010526..102383473 [GRCh37]
Chr15:96828049..100200996 [NCBI36]
Chr15:15q26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98068625-99258729)x3 copy number gain See cases [RCV000143384] Chr15:98068625..99258729 [GRCh38]
Chr15:98611854..99798934 [GRCh37]
Chr15:96429377..97616457 [NCBI36]
Chr15:15q26.3
uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1 copy number loss See cases [RCV000143176] Chr15:97681713..101920998 [GRCh38]
Chr15:98224943..102461201 [GRCh37]
Chr15:96025947..100278724 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1 copy number loss See cases [RCV000143687] Chr15:93805032..101326876 [GRCh38]
Chr15:94348261..101867081 [GRCh37]
Chr15:92149265..99684604 [NCBI36]
Chr15:15q26.2-26.3
pathogenic
GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3 copy number gain See cases [RCV000143526] Chr15:98280297..101888909 [GRCh38]
Chr15:98823526..102429112 [GRCh37]
Chr15:96641049..100246635 [NCBI36]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117329]|not provided [RCV000175644] Chr15:98708035 [GRCh38]
Chr15:99251264 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117536]|not provided [RCV000176166] Chr15:98957347 [GRCh38]
Chr15:99500576 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.3984C>T (p.Gly1328=) single nucleotide variant not provided [RCV000176167] Chr15:98957322 [GRCh38]
Chr15:99500551 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4058G>A (p.Arg1353His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119131]|not provided [RCV000176168] Chr15:98957396 [GRCh38]
Chr15:99500625 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1963G>A (p.Gly655Ser) single nucleotide variant IGF1R-related condition [RCV003416101]|not provided [RCV000180533] Chr15:98916098 [GRCh38]
Chr15:99459327 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000378865]|not provided [RCV000906621]|not specified [RCV000265225] Chr15:98707692 [GRCh38]
Chr15:99250921 [GRCh37]
Chr15:15q26.3
benign|likely benign|uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:96869560-99486217)x3 copy number gain Ductal breast carcinoma [RCV000207087] Chr15:96869560..99486217 [GRCh37]
Chr15:15q26.2-26.3
uncertain significance
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000325797]|not provided [RCV000959148]|not specified [RCV000374362] Chr15:98916085 [GRCh38]
Chr15:99459314 [GRCh37]
Chr15:15q26.3
benign|likely benign|uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1 copy number loss See cases [RCV000239905] Chr15:98458265..102354857 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_000875.5(IGF1R):c.4038C>T (p.Tyr1346=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000309628]|not provided [RCV001764252]|not specified [RCV000312383] Chr15:98957376 [GRCh38]
Chr15:99500605 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.2578G>T (p.Gly860Ter) single nucleotide variant not provided [RCV000520992] Chr15:98923968 [GRCh38]
Chr15:99467197 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1 copy number loss See cases [RCV000240535] Chr15:92197136..102354857 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_000875.5(IGF1R):c.*5570C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000300214] Chr15:98963012 [GRCh38]
Chr15:99506241 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*49C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000268140] Chr15:98957491 [GRCh38]
Chr15:99500720 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5428A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000283755] Chr15:98962870 [GRCh38]
Chr15:99506099 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000284023]|not provided [RCV000735046] Chr15:98924647 [GRCh38]
Chr15:99467876 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.*3616C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000301322] Chr15:98961058 [GRCh38]
Chr15:99504287 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4752G>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000303040] Chr15:98962194 [GRCh38]
Chr15:99505423 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*2379T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000322894] Chr15:98959821 [GRCh38]
Chr15:99503050 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5227C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000346827] Chr15:98962669 [GRCh38]
Chr15:99505898 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*5739T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000284099] Chr15:98963181 [GRCh38]
Chr15:99506410 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*2296G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000303160] Chr15:98959738 [GRCh38]
Chr15:99502967 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1753AT[7] microsatellite Growth delay due to insulin-like growth factor I resistance [RCV000324485] Chr15:98959194..98959195 [GRCh38]
Chr15:99502423..99502424 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*4792C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000267647] Chr15:98962234 [GRCh38]
Chr15:99505463 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4231G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000267885] Chr15:98961673 [GRCh38]
Chr15:99504902 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6271C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000267853] Chr15:98963713 [GRCh38]
Chr15:99506942 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*3458G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000285027] Chr15:98960900 [GRCh38]
Chr15:99504129 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*3470C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000285784] Chr15:98960912 [GRCh38]
Chr15:99504141 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1228G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000286430] Chr15:98958670 [GRCh38]
Chr15:99501899 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*6631G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000400302] Chr15:98964073 [GRCh38]
Chr15:99507302 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.641-14C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000286560]|not provided [RCV002056474] Chr15:98891311 [GRCh38]
Chr15:99434540 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*2998A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000305354] Chr15:98960440 [GRCh38]
Chr15:99503669 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*447C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000305596] Chr15:98957889 [GRCh38]
Chr15:99501118 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5488A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000305657] Chr15:98962930 [GRCh38]
Chr15:99506159 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*346C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000287523] Chr15:98957788 [GRCh38]
Chr15:99501017 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3440G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000269768] Chr15:98960882 [GRCh38]
Chr15:99504111 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.-43T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000287895] Chr15:98649539 [GRCh38]
Chr15:99192768 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2718C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000289290] Chr15:98960160 [GRCh38]
Chr15:99503389 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*1668C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000328347] Chr15:98959110 [GRCh38]
Chr15:99502339 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*1087A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000290062] Chr15:98958529 [GRCh38]
Chr15:99501758 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*3445C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000329574] Chr15:98960887 [GRCh38]
Chr15:99504116 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*910C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000271795] Chr15:98958352 [GRCh38]
Chr15:99501581 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*7046_*7050dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000289972] Chr15:98964483..98964484 [GRCh38]
Chr15:99507712..99507713 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*1600A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000273214] Chr15:98959042 [GRCh38]
Chr15:99502271 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1247+10C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000403752] Chr15:98899631 [GRCh38]
Chr15:99442860 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3074G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000404042] Chr15:98960516 [GRCh38]
Chr15:99503745 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*712G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000259697] Chr15:98958154 [GRCh38]
Chr15:99501383 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*213C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000293406] Chr15:98957655 [GRCh38]
Chr15:99500884 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4458C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000293877] Chr15:98961900 [GRCh38]
Chr15:99505129 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*2529GT[6] microsatellite Growth delay due to insulin-like growth factor I resistance [RCV000333693] Chr15:98959971..98959972 [GRCh38]
Chr15:99503200..99503201 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.903C>A (p.Gly301=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000334977]|not provided [RCV002061189]|not specified [RCV001573679] Chr15:98891587 [GRCh38]
Chr15:99434816 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*5571G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000357392] Chr15:98963013 [GRCh38]
Chr15:99506242 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*291C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000384146] Chr15:98957733 [GRCh38]
Chr15:99500962 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4645C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000405431] Chr15:98962087 [GRCh38]
Chr15:99505316 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*1425A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000405864] Chr15:98958867 [GRCh38]
Chr15:99502096 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*4980G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000293492] Chr15:98962422 [GRCh38]
Chr15:99505651 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6580C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000293556] Chr15:98964022 [GRCh38]
Chr15:99507251 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*4816C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000261568] Chr15:98962258 [GRCh38]
Chr15:99505487 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1681A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000359332] Chr15:98959123 [GRCh38]
Chr15:99502352 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*134C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000275927] Chr15:98957576 [GRCh38]
Chr15:99500805 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*55G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000262417] Chr15:98957497 [GRCh38]
Chr15:99500726 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6901G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000387424] Chr15:98964343 [GRCh38]
Chr15:99507572 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2426del deletion Growth delay due to insulin-like growth factor I resistance [RCV000259776] Chr15:98959855 [GRCh38]
Chr15:99503084 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity
NM_000875.5(IGF1R):c.*4513A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000295096] Chr15:98961955 [GRCh38]
Chr15:99505184 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*6969G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000295525] Chr15:98964411 [GRCh38]
Chr15:99507640 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3925G>A (p.Ala1309Thr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000296827]|not provided [RCV000733048] Chr15:98957263 [GRCh38]
Chr15:99500492 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6307A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000315807] Chr15:98963749 [GRCh38]
Chr15:99506978 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4438G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000338296] Chr15:98961880 [GRCh38]
Chr15:99505109 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6092G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000362695] Chr15:98963534 [GRCh38]
Chr15:99506763 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*3333G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000277842] Chr15:98960775 [GRCh38]
Chr15:99504004 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*5788_*5789del deletion Growth delay due to insulin-like growth factor I resistance [RCV000278451] Chr15:98963214..98963215 [GRCh38]
Chr15:99506443..99506444 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4404G>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000278368] Chr15:98961846 [GRCh38]
Chr15:99505075 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3129G>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000296881] Chr15:98960571 [GRCh38]
Chr15:99503800 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*6186G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000264320] Chr15:98963628 [GRCh38]
Chr15:99506857 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*1724C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000264534] Chr15:98959166 [GRCh38]
Chr15:99502395 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.864C>T (p.Ala288=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000339280]|not provided [RCV000957341] Chr15:98891548 [GRCh38]
Chr15:99434777 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*3197G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000261644] Chr15:98960639 [GRCh38]
Chr15:99503868 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2868C>T (p.Tyr956=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000317954] Chr15:98929643 [GRCh38]
Chr15:99472872 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*1925C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000391195] Chr15:98959367 [GRCh38]
Chr15:99502596 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4028G>T (p.Arg1343Ile) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000392311] Chr15:98957366 [GRCh38]
Chr15:99500595 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*741C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000298700] Chr15:98958183 [GRCh38]
Chr15:99501412 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*57G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000319940] Chr15:98957499 [GRCh38]
Chr15:99500728 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6493C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000280628] Chr15:98963935 [GRCh38]
Chr15:99507164 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*1897G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000281278] Chr15:98959339 [GRCh38]
Chr15:99502568 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3878_*3881del deletion Growth delay due to insulin-like growth factor I resistance [RCV000270108] Chr15:98961317..98961320 [GRCh38]
Chr15:99504546..99504549 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.895C>T (p.His299Tyr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000280829] Chr15:98891579 [GRCh38]
Chr15:99434808 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1828+11C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000365279]|not provided [RCV002520980] Chr15:98913293 [GRCh38]
Chr15:99456522 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*4641C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000365934] Chr15:98962083 [GRCh38]
Chr15:99505312 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*4000C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000365615]|not provided [RCV001594950] Chr15:98961442 [GRCh38]
Chr15:99504671 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*6166G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000366037] Chr15:98963608 [GRCh38]
Chr15:99506837 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*4529T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000390975] Chr15:98961971 [GRCh38]
Chr15:99505200 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*1991G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000391118] Chr15:98959433 [GRCh38]
Chr15:99502662 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6096G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000270348] Chr15:98963538 [GRCh38]
Chr15:99506767 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4172C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000321509] Chr15:98961614 [GRCh38]
Chr15:99504843 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*2790C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000344329] Chr15:98960232 [GRCh38]
Chr15:99503461 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.4045A>G (p.Met1349Val) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000366630] Chr15:98957383 [GRCh38]
Chr15:99500612 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3594C>T (p.Phe1198=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000392303]|not provided [RCV000967393] Chr15:98948580 [GRCh38]
Chr15:99491809 [GRCh37]
Chr15:15q26.3
benign|likely benign|uncertain significance
NM_000875.5(IGF1R):c.*5565A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000392899] Chr15:98963007 [GRCh38]
Chr15:99506236 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*417_*418del deletion Growth delay due to insulin-like growth factor I resistance [RCV000393036] Chr15:98957859..98957860 [GRCh38]
Chr15:99501088..99501089 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*5458A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000392888] Chr15:98962900 [GRCh38]
Chr15:99506129 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*4080C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000271047] Chr15:98961522 [GRCh38]
Chr15:99504751 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4351A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000322962] Chr15:98961793 [GRCh38]
Chr15:99505022 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4521G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000345402] Chr15:98961963 [GRCh38]
Chr15:99505192 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*3818A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000369367] Chr15:98961260 [GRCh38]
Chr15:99504489 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5739dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000290061] Chr15:98963172..98963173 [GRCh38]
Chr15:99506401..99506402 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2854_*2857dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000290131] Chr15:98960292..98960293 [GRCh38]
Chr15:99503521..99503522 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) single nucleotide variant not provided [RCV000274313] Chr15:98916091 [GRCh38]
Chr15:99459320 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.*6793dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000260360]|not provided [RCV003391146] Chr15:98964226..98964227 [GRCh38]
Chr15:99507455..99507456 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.2401A>G (p.Ile801Val) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000323949] Chr15:98922347 [GRCh38]
Chr15:99465576 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5718A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000325068] Chr15:98963160 [GRCh38]
Chr15:99506389 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*251A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000346005] Chr15:98957693 [GRCh38]
Chr15:99500922 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1463-5C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000370865]|not provided [RCV000514198] Chr15:98911310 [GRCh38]
Chr15:99454539 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.94+14C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000326609]|not provided [RCV002056473] Chr15:98649689 [GRCh38]
Chr15:99192918 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*5926T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000348684] Chr15:98963368 [GRCh38]
Chr15:99506597 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4466G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000348761] Chr15:98961908 [GRCh38]
Chr15:99505137 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*54dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000302343] Chr15:98957495..98957496 [GRCh38]
Chr15:99500724..99500725 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1868C>G (p.Ser623Cys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000273028]|Inborn genetic diseases [RCV003278763] Chr15:98916003 [GRCh38]
Chr15:99459232 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1999G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000306245] Chr15:98959441 [GRCh38]
Chr15:99502670 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3999A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000306449] Chr15:98961441 [GRCh38]
Chr15:99504670 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3950C>G (p.Pro1317Arg) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000349125] Chr15:98957288 [GRCh38]
Chr15:99500517 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6308T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000372734] Chr15:98963750 [GRCh38]
Chr15:99506979 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*63AG[3] microsatellite Growth delay due to insulin-like growth factor I resistance [RCV000372866]|not provided [RCV003391145] Chr15:98957504..98957505 [GRCh38]
Chr15:99500733..99500734 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*4391C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000372912] Chr15:98961833 [GRCh38]
Chr15:99505062 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*4439G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000374281] Chr15:98961881 [GRCh38]
Chr15:99505110 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.1991C>T (p.Ser664Phe) single nucleotide variant not provided [RCV000348889] Chr15:98916126 [GRCh38]
Chr15:99459355 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*15A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000308113] Chr15:98957457 [GRCh38]
Chr15:99500686 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*940C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000329188] Chr15:98958382 [GRCh38]
Chr15:99501611 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1945C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000350759] Chr15:98959387 [GRCh38]
Chr15:99502616 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6581G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000350762] Chr15:98964023 [GRCh38]
Chr15:99507252 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2989G>A (p.Glu997Lys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000374921] Chr15:98934856 [GRCh38]
Chr15:99478085 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1856C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000375662] Chr15:98959298 [GRCh38]
Chr15:99502527 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.3187-2A>T single nucleotide variant not provided [RCV000333916] Chr15:98935314 [GRCh38]
Chr15:99478543 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.*5633A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000274327] Chr15:98963075 [GRCh38]
Chr15:99506304 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4599C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000308989] Chr15:98962041 [GRCh38]
Chr15:99505270 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*4186A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000376185] Chr15:98961628 [GRCh38]
Chr15:99504857 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2856_*2857dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000401684] Chr15:98960292..98960293 [GRCh38]
Chr15:99503521..99503522 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*5309C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000402092] Chr15:98962751 [GRCh38]
Chr15:99505980 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*4815G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000354301] Chr15:98962257 [GRCh38]
Chr15:99505486 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118945]|not provided [RCV000883793]|not specified [RCV000352493] Chr15:98908773 [GRCh38]
Chr15:99452002 [GRCh37]
Chr15:15q26.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000875.5(IGF1R):c.*6890A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000263813] Chr15:98964332 [GRCh38]
Chr15:99507561 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1499C>T (p.Thr500Met) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000403167] Chr15:98911351 [GRCh38]
Chr15:99454580 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3595G>A (p.Gly1199Arg) single nucleotide variant not provided [RCV000320012] Chr15:98948581 [GRCh38]
Chr15:99491810 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4096A>C (p.Thr1366Pro) single nucleotide variant Inborn genetic diseases [RCV000623642]|not provided [RCV000392288] Chr15:98957434 [GRCh38]
Chr15:99500663 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6746T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000310690] Chr15:98964188 [GRCh38]
Chr15:99507417 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3338G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000332861] Chr15:98960780 [GRCh38]
Chr15:99504009 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4069C>T (p.Arg1357Trp) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000404718]|not provided [RCV002520981] Chr15:98957407 [GRCh38]
Chr15:99500636 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5720_*5724del deletion Growth delay due to insulin-like growth factor I resistance [RCV000277064] Chr15:98963159..98963163 [GRCh38]
Chr15:99506388..99506392 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1360T>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000311954] Chr15:98958802 [GRCh38]
Chr15:99502031 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1686G>A (p.Val562=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000312821]|not provided [RCV000954154]|not specified [RCV001727682] Chr15:98913140 [GRCh38]
Chr15:99456369 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*5146G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000334088] Chr15:98962588 [GRCh38]
Chr15:99505817 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*3165T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000356366] Chr15:98960607 [GRCh38]
Chr15:99503836 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*5151T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000381636] Chr15:98962593 [GRCh38]
Chr15:99505822 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*626T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000405242] Chr15:98958068 [GRCh38]
Chr15:99501297 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3091G>A (p.Ala1031Thr) single nucleotide variant not provided [RCV000323650] Chr15:98934958 [GRCh38]
Chr15:99478187 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1462+15C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000313833]|not provided [RCV002056475]|not specified [RCV001573778] Chr15:98908914 [GRCh38]
Chr15:99452143 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*5789del deletion Growth delay due to insulin-like growth factor I resistance [RCV000335738] Chr15:98963214 [GRCh38]
Chr15:99506443 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2343C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000357975] Chr15:98959785 [GRCh38]
Chr15:99503014 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6770A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000358586] Chr15:98964212 [GRCh38]
Chr15:99507441 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*3457C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000384024] Chr15:98960899 [GRCh38]
Chr15:99504128 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.885G>A (p.Gly295=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000408204]|not provided [RCV000965992] Chr15:98891569 [GRCh38]
Chr15:99434798 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*3731dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000407990] Chr15:98961169..98961170 [GRCh38]
Chr15:99504398..99504399 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1268del deletion Growth delay due to insulin-like growth factor I resistance [RCV000408049] Chr15:98958701 [GRCh38]
Chr15:99501930 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*3584C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000407992] Chr15:98961026 [GRCh38]
Chr15:99504255 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6771T>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000266220] Chr15:98964213 [GRCh38]
Chr15:99507442 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*837C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000277561] Chr15:98958279 [GRCh38]
Chr15:99501508 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3766C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000314630]|not provided [RCV001672518] Chr15:98961208 [GRCh38]
Chr15:99504437 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*3489G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000336137] Chr15:98960931 [GRCh38]
Chr15:99504160 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3714C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000337526] Chr15:98961156 [GRCh38]
Chr15:99504385 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4761C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000360033] Chr15:98962203 [GRCh38]
Chr15:99505432 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*43G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000360371] Chr15:98957485 [GRCh38]
Chr15:99500714 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*6568A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000385309] Chr15:98964010 [GRCh38]
Chr15:99507239 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.*4814C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000315862] Chr15:98962256 [GRCh38]
Chr15:99505485 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*1765T>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000316399] Chr15:98959207 [GRCh38]
Chr15:99502436 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.1102+6T>C single nucleotide variant not provided [RCV000295992] Chr15:98896911 [GRCh38]
Chr15:99440140 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2344G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000267813] Chr15:98959786 [GRCh38]
Chr15:99503015 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*624G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000339478] Chr15:98958066 [GRCh38]
Chr15:99501295 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1150G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000340306] Chr15:98958592 [GRCh38]
Chr15:99501821 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2858_*2860del deletion Growth delay due to insulin-like growth factor I resistance [RCV000340361] Chr15:98960298..98960300 [GRCh38]
Chr15:99503527..99503529 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*874C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000387221] Chr15:98958316 [GRCh38]
Chr15:99501545 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.1590-20T>C single nucleotide variant not provided [RCV002059162]|not specified [RCV000298969] Chr15:98913024 [GRCh38]
Chr15:99456253 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.2782A>G (p.Thr928Ala) single nucleotide variant not provided [RCV000405417] Chr15:98924684 [GRCh38]
Chr15:99467913 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1767_*1770del deletion Growth delay due to insulin-like growth factor I resistance [RCV000279960] Chr15:98959206..98959209 [GRCh38]
Chr15:99502435..99502438 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3020dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000341397] Chr15:98960461..98960462 [GRCh38]
Chr15:99503690..99503691 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*5436C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000341223] Chr15:98962878 [GRCh38]
Chr15:99506107 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*5742C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000341402] Chr15:98963184 [GRCh38]
Chr15:99506413 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2023G>A (p.Asp675Asn) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000364180] Chr15:98916698 [GRCh38]
Chr15:99459927 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117445]|not provided [RCV000885406]|not specified [RCV000268527] Chr15:98923960 [GRCh38]
Chr15:99467189 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=) single nucleotide variant not provided [RCV000268164] Chr15:98911337 [GRCh38]
Chr15:99454566 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115985]|Inborn genetic diseases [RCV002519154]|not provided [RCV000371429] Chr15:98913238 [GRCh38]
Chr15:99456467 [GRCh37]
Chr15:15q26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.818G>T (p.Gly273Val) single nucleotide variant not provided [RCV003238963] Chr15:98891502 [GRCh38]
Chr15:99434731 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.77G>A (p.Trp26Ter) single nucleotide variant Neurodevelopmental disorder [RCV001374981] Chr15:98649658 [GRCh38]
Chr15:99192887 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.2201G>T (p.Arg734Ile) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000516174] Chr15:98916876 [GRCh38]
Chr15:99460105 [GRCh37]
Chr15:15q26.3
protective
NM_000875.5(IGF1R):c.596A>C (p.Asn199Thr) single nucleotide variant not provided [RCV001760807] Chr15:98708063 [GRCh38]
Chr15:99251292 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1931A>G (p.Tyr644Cys) single nucleotide variant Inborn genetic diseases [RCV000623660] Chr15:98916066 [GRCh38]
Chr15:99459295 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.*362T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000345214] Chr15:98957804 [GRCh38]
Chr15:99501033 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6784_*6786del deletion Growth delay due to insulin-like growth factor I resistance [RCV000362081] Chr15:98964224..98964226 [GRCh38]
Chr15:99507453..99507455 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5771del deletion Growth delay due to insulin-like growth factor I resistance [RCV000379922] Chr15:98963213 [GRCh38]
Chr15:99506442 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3471dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000380118] Chr15:98960905..98960906 [GRCh38]
Chr15:99504134..99504135 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*866dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000330272] Chr15:98958303..98958304 [GRCh38]
Chr15:99501532..99501533 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6897A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000330567] Chr15:98964339 [GRCh38]
Chr15:99507568 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6700A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000345735] Chr15:98964142 [GRCh38]
Chr15:99507371 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1572G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000363195] Chr15:98959014 [GRCh38]
Chr15:99502243 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1042C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000381520] Chr15:98958484 [GRCh38]
Chr15:99501713 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6977_*6979del deletion Growth delay due to insulin-like growth factor I resistance [RCV000382033]|not provided [RCV003391147] Chr15:98964417..98964419 [GRCh38]
Chr15:99507646..99507648 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*5730_*5733del deletion Growth delay due to insulin-like growth factor I resistance [RCV000382119] Chr15:98963172..98963175 [GRCh38]
Chr15:99506401..99506404 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2448_*2452del deletion Growth delay due to insulin-like growth factor I resistance [RCV000292777] Chr15:98959886..98959890 [GRCh38]
Chr15:99503115..99503119 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5693T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000331651] Chr15:98963135 [GRCh38]
Chr15:99506364 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3364T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000382738] Chr15:98960806 [GRCh38]
Chr15:99504035 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6780G>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000305005] Chr15:98964222 [GRCh38]
Chr15:99507451 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1332TC[1] microsatellite Growth delay due to insulin-like growth factor I resistance [RCV000402972] Chr15:98958773..98958774 [GRCh38]
Chr15:99502002..99502003 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6793del deletion Growth delay due to insulin-like growth factor I resistance [RCV000317852] Chr15:98964227 [GRCh38]
Chr15:99507456 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*149C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000333286] Chr15:98957591 [GRCh38]
Chr15:99500820 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2064T>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000365695] Chr15:98959506 [GRCh38]
Chr15:99502735 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2224A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000403713] Chr15:98959666 [GRCh38]
Chr15:99502895 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.-41_-33del deletion Growth delay due to insulin-like growth factor I resistance [RCV000342071] Chr15:98649526..98649534 [GRCh38]
Chr15:99192755..99192763 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*4861C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000319129] Chr15:98962303 [GRCh38]
Chr15:99505532 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2428_*2431del deletion Growth delay due to insulin-like growth factor I resistance [RCV000319527] Chr15:98959870..98959873 [GRCh38]
Chr15:99503099..99503102 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6974A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000334067] Chr15:98964416 [GRCh38]
Chr15:99507645 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1904G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000349668] Chr15:98959346 [GRCh38]
Chr15:99502575 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3327G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000367785] Chr15:98960769 [GRCh38]
Chr15:99503998 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4889T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000385385] Chr15:98962331 [GRCh38]
Chr15:99505560 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*199C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000385436] Chr15:98957641 [GRCh38]
Chr15:99500870 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6697dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000307198] Chr15:98964131..98964132 [GRCh38]
Chr15:99507360..99507361 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1931C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000295783] Chr15:98959373 [GRCh38]
Chr15:99502602 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3314C>T (p.Ala1105Val) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000336465] Chr15:98939217 [GRCh38]
Chr15:99482446 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*806T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000369829] Chr15:98958248 [GRCh38]
Chr15:99501477 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2610_*2613del deletion Growth delay due to insulin-like growth factor I resistance [RCV000388318] Chr15:98960050..98960053 [GRCh38]
Chr15:99503279..99503282 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5790del deletion Growth delay due to insulin-like growth factor I resistance [RCV000406698] Chr15:98963232 [GRCh38]
Chr15:99506461 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6028A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000406703] Chr15:98963470 [GRCh38]
Chr15:99506699 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1267_*1268del deletion Growth delay due to insulin-like growth factor I resistance [RCV000296960] Chr15:98958701..98958702 [GRCh38]
Chr15:99501930..99501931 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1513C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000308545] Chr15:98958955 [GRCh38]
Chr15:99502184 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6232G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000321820] Chr15:98963674 [GRCh38]
Chr15:99506903 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6521dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000338037] Chr15:98963962..98963963 [GRCh38]
Chr15:99507191..99507192 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5712G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000370009] Chr15:98963154 [GRCh38]
Chr15:99506383 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6124G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000309048] Chr15:98963566 [GRCh38]
Chr15:99506795 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1262A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000337852] Chr15:98958704 [GRCh38]
Chr15:99501933 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5515C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000353521] Chr15:98962957 [GRCh38]
Chr15:99506186 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1361T>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000371316] Chr15:98958803 [GRCh38]
Chr15:99502032 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6731G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000390851] Chr15:98964173 [GRCh38]
Chr15:99507402 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4494G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000390993] Chr15:98961936 [GRCh38]
Chr15:99505165 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.-51T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000400837] Chr15:98649531 [GRCh38]
Chr15:99192760 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*3463G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000339559] Chr15:98960905 [GRCh38]
Chr15:99504134 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2430_*2431del deletion Growth delay due to insulin-like growth factor I resistance [RCV000374216] Chr15:98959871..98959872 [GRCh38]
Chr15:99503100..99503101 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2952C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000392868] Chr15:98960394 [GRCh38]
Chr15:99503623 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*640C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000299707] Chr15:98958082 [GRCh38]
Chr15:99501311 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1229G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000341330] Chr15:98958671 [GRCh38]
Chr15:99501900 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*641G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000356849] Chr15:98958083 [GRCh38]
Chr15:99501312 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6875T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000374758] Chr15:98964317 [GRCh38]
Chr15:99507546 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5152T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000289487] Chr15:98962594 [GRCh38]
Chr15:99505823 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3199C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000312190] Chr15:98960641 [GRCh38]
Chr15:99503870 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5735T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000376094] Chr15:98963177 [GRCh38]
Chr15:99506406 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1155_*1156insGT insertion Growth delay due to insulin-like growth factor I resistance [RCV000376244] Chr15:98958596..98958597 [GRCh38]
Chr15:99501825..99501826 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5791G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000300861] Chr15:98963233 [GRCh38]
Chr15:99506462 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*62dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000359392] Chr15:98957496..98957497 [GRCh38]
Chr15:99500725..99500726 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6091C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000313801] Chr15:98963533 [GRCh38]
Chr15:99506762 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5736_*5739del deletion Growth delay due to insulin-like growth factor I resistance [RCV000328439] Chr15:98963173..98963176 [GRCh38]
Chr15:99506402..99506405 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*6266_*6268del deletion Growth delay due to insulin-like growth factor I resistance [RCV000378665] Chr15:98963706..98963708 [GRCh38]
Chr15:99506935..99506937 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1753AT[3] microsatellite Growth delay due to insulin-like growth factor I resistance [RCV000379023] Chr15:98959195..98959200 [GRCh38]
Chr15:99502424..99502429 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2784A>G (p.Thr928=) single nucleotide variant not provided [RCV000592017] Chr15:98929559 [GRCh38]
Chr15:99472788 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6144A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119934] Chr15:98963586 [GRCh38]
Chr15:99506815 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=) single nucleotide variant not provided [RCV000593509] Chr15:98913146 [GRCh38]
Chr15:99456375 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
NM_000875.5(IGF1R):c.1940G>A (p.Arg647His) single nucleotide variant not provided [RCV000731070] Chr15:98916075 [GRCh38]
Chr15:99459304 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=) single nucleotide variant not provided [RCV000733783] Chr15:98913134 [GRCh38]
Chr15:99456363 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4054G>A (p.Gly1352Ser) single nucleotide variant not provided [RCV000734315] Chr15:98957392 [GRCh38]
Chr15:99500621 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2032dup (p.Ile678fs) duplication not provided [RCV000731279] Chr15:98916706..98916707 [GRCh38]
Chr15:99459935..99459936 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.2558C>T (p.Pro853Leu) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117444]|not provided [RCV000909040]|not specified [RCV000735124] Chr15:98923948 [GRCh38]
Chr15:99467177 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1723A>G (p.Thr575Ala) single nucleotide variant not provided [RCV000728498] Chr15:98913177 [GRCh38]
Chr15:99456406 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.318C>T (p.Ile106=) single nucleotide variant not provided [RCV000733917] Chr15:98707785 [GRCh38]
Chr15:99251014 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.418dup (p.Ala140fs) duplication not provided [RCV000728990] Chr15:98707879..98707880 [GRCh38]
Chr15:99251108..99251109 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.189C>T (p.Leu63=) single nucleotide variant not provided [RCV000734166] Chr15:98707656 [GRCh38]
Chr15:99250885 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001120906]|not provided [RCV000732827] Chr15:98911352 [GRCh38]
Chr15:99454581 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.885G>T (p.Gly295=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117332]|not provided [RCV000595117] Chr15:98891569 [GRCh38]
Chr15:99434798 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95238218-102429112)x1 copy number loss See cases [RCV000446457] Chr15:95238218..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
NM_000875.5(IGF1R):c.2201+5C>G single nucleotide variant not specified [RCV000431565] Chr15:98916881 [GRCh38]
Chr15:99460110 [GRCh37]
Chr15:15q26.3
likely benign
GRCh37/hg19 15q26.2-26.3(chr15:94782891-102429112)x1 copy number loss See cases [RCV000445764] Chr15:94782891..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
NM_000875.5(IGF1R):c.1590-1G>C single nucleotide variant not provided [RCV000439164] Chr15:98913043 [GRCh38]
Chr15:99456272 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:99397722-99782050)x3 copy number gain See cases [RCV000448493] Chr15:99397722..99782050 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:98818228-102399760) copy number loss See cases [RCV000447813] Chr15:98818228..102399760 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)x1 copy number loss See cases [RCV000448857] Chr15:97223728..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1 copy number loss See cases [RCV000512141] Chr15:95136822..102045577 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_000875.5(IGF1R):c.323del (p.Gly108fs) deletion not provided [RCV000478317] Chr15:98707789 [GRCh38]
Chr15:99251018 [GRCh37]
Chr15:15q26.3
likely pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs) duplication Inborn genetic diseases [RCV000624750]|not provided [RCV000497309] Chr15:98939247..98939248 [GRCh38]
Chr15:99482476..99482477 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1 copy number loss See cases [RCV000510663] Chr15:96913435..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:98856288-99637703)x3 copy number gain See cases [RCV000511971] Chr15:98856288..99637703 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000875.5(IGF1R):c.1997-6G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331397]|not provided [RCV000494329] Chr15:98916666 [GRCh38]
Chr15:99459895 [GRCh37]
Chr15:15q26.3
likely pathogenic|uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3 copy number gain See cases [RCV000511719] Chr15:93148806..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
NM_000875.5(IGF1R):c.1862C>T (p.Ser621Leu) single nucleotide variant IGF1R-Related Disorder [RCV000844968]|not provided [RCV000493390] Chr15:98915997 [GRCh38]
Chr15:99459226 [GRCh37]
Chr15:15q26.3
likely pathogenic|not provided
NM_000875.5(IGF1R):c.3526G>A (p.Val1176Met) single nucleotide variant Inborn genetic diseases [RCV000624613] Chr15:98942991 [GRCh38]
Chr15:99486220 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.700G>A (p.Glu234Lys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000516167] Chr15:98891384 [GRCh38]
Chr15:99434613 [GRCh37]
Chr15:15q26.3
protective
NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000516173] Chr15:98707828 [GRCh38]
Chr15:99251057 [GRCh37]
Chr15:15q26.3
likely pathogenic|protective
NM_000875.5(IGF1R):c.84G>A (p.Thr28=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115871]|not provided [RCV000597923] Chr15:98649665 [GRCh38]
Chr15:99192894 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.3187-5C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121011]|not provided [RCV000594025]|not specified [RCV001796755] Chr15:98935311 [GRCh38]
Chr15:99478540 [GRCh37]
Chr15:15q26.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.2904del (p.Asn969fs) deletion Inborn genetic diseases [RCV000624515] Chr15:98930250 [GRCh38]
Chr15:99473479 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1 copy number loss See cases [RCV000512353] Chr15:98220018..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_000875.5(IGF1R):c.850A>T (p.Asn284Tyr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331403]|not provided [RCV000598254] Chr15:98891534 [GRCh38]
Chr15:99434763 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=) single nucleotide variant not provided [RCV000594739] Chr15:98957256 [GRCh38]
Chr15:99500485 [GRCh37]
Chr15:15q26.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1 copy number loss See cases [RCV000512437] Chr15:98737093..102429112 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.2933C>T (p.Pro978Leu) single nucleotide variant Inborn genetic diseases [RCV000623752] Chr15:98930282 [GRCh38]
Chr15:99473511 [GRCh37]
Chr15:15q26.3
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_000875.5(IGF1R):c.2101G>A (p.Ala701Thr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000660422] Chr15:98916776 [GRCh38]
Chr15:99460005 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99350059-100112556)x3 copy number gain not provided [RCV000683723] Chr15:99350059..100112556 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:99198450-99913428)x3 copy number gain not provided [RCV000683722] Chr15:99198450..99913428 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:98144229-99857338)x1 copy number loss not provided [RCV000683721] Chr15:98144229..99857338 [GRCh37]
Chr15:15q26.2-26.3
likely pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:99112003-99382996)x1 copy number loss not provided [RCV000738887] Chr15:99112003..99382996 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99191259-99193429)x1 copy number loss not provided [RCV000738888] Chr15:99191259..99193429 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q26.3(chr15:99191259-99204652)x1 copy number loss not provided [RCV000738889] Chr15:99191259..99204652 [GRCh37]
Chr15:15q26.3
benign
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000875.5(IGF1R):c.384T>C (p.Ile128=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000852352] Chr15:98707851 [GRCh38]
Chr15:99251080 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.995G>A (p.Cys332Tyr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000852354] Chr15:98896798 [GRCh38]
Chr15:99440027 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.1247+1dup duplication Growth delay due to insulin-like growth factor I resistance [RCV000852355] Chr15:98899619..98899620 [GRCh38]
Chr15:99442848..99442849 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.3539C>A (p.Ser1180Tyr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000852358] Chr15:98943004 [GRCh38]
Chr15:99486233 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.279C>T (p.Leu93=) single nucleotide variant not provided [RCV000980290] Chr15:98707746 [GRCh38]
Chr15:99250975 [GRCh37]
Chr15:15q26.3
likely benign
GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1 copy number loss See cases [RCV003314260] Chr15:99021824..101196161 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.2321_2322del (p.Glu774fs) microsatellite Growth delay due to insulin-like growth factor I resistance [RCV001548770] Chr15:98922265..98922266 [GRCh38]
Chr15:99465494..99465495 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:99434554-99550600)x1 copy number loss not provided [RCV003312318] Chr15:99434554..99550600 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.*231A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116212] Chr15:98957673 [GRCh38]
Chr15:99500902 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*336C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116214] Chr15:98957778 [GRCh38]
Chr15:99501007 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4445C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116735] Chr15:98961887 [GRCh38]
Chr15:99505116 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5187G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116849] Chr15:98962629 [GRCh38]
Chr15:99505858 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5326C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116850] Chr15:98962768 [GRCh38]
Chr15:99505997 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*458G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117653] Chr15:98957900 [GRCh38]
Chr15:99501129 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*5877A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115246] Chr15:98963319 [GRCh38]
Chr15:99506548 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3654C>T (p.Asn1218=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116092] Chr15:98948640 [GRCh38]
Chr15:99491869 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 copy number loss Chromosome 15q26-qter deletion syndrome [RCV000993689] Chr15:96878099..102397836 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_000875.5(IGF1R):c.*1885G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116421]|not provided [RCV003393853] Chr15:98959327 [GRCh38]
Chr15:99502556 [GRCh37]
Chr15:15q26.3
benign|uncertain significance
NM_000875.5(IGF1R):c.1164G>A (p.Val388=) single nucleotide variant not provided [RCV000901578] Chr15:98899538 [GRCh38]
Chr15:99442767 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1035T>G (p.Thr345=) single nucleotide variant not provided [RCV000921374] Chr15:98896838 [GRCh38]
Chr15:99440067 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.873C>T (p.Ser291=) single nucleotide variant not provided [RCV000906744] Chr15:98891557 [GRCh38]
Chr15:99434786 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1503G>A (p.Ser501=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001120907]|not provided [RCV000975430] Chr15:98911355 [GRCh38]
Chr15:99454584 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.2769T>C (p.Tyr923=) single nucleotide variant not provided [RCV000936763] Chr15:98924671 [GRCh38]
Chr15:99467900 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4095G>A (p.Ser1365=) single nucleotide variant not provided [RCV000959244] Chr15:98957433 [GRCh38]
Chr15:99500662 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2730C>T (p.Leu910=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001334594]|not provided [RCV000927614] Chr15:98924632 [GRCh38]
Chr15:99467861 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.1965C>A (p.Gly655=) single nucleotide variant not provided [RCV000903909] Chr15:98916100 [GRCh38]
Chr15:99459329 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1194C>T (p.Ser398=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118942]|not provided [RCV000879318] Chr15:98899568 [GRCh38]
Chr15:99442797 [GRCh37]
Chr15:15q26.3
benign|likely benign|uncertain significance
NM_000875.5(IGF1R):c.2823C>T (p.Pro941=) single nucleotide variant not provided [RCV000915382] Chr15:98929598 [GRCh38]
Chr15:99472827 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.237G>T (p.Thr79=) single nucleotide variant not provided [RCV000898318] Chr15:98707704 [GRCh38]
Chr15:99250933 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.549A>G (p.Pro183=) single nucleotide variant not provided [RCV000922193] Chr15:98708016 [GRCh38]
Chr15:99251245 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1371C>T (p.Ser457=) single nucleotide variant not provided [RCV000944110] Chr15:98908808 [GRCh38]
Chr15:99452037 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1401G>A (p.Gly467=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003130091]|not provided [RCV000924445] Chr15:98908838 [GRCh38]
Chr15:99452067 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.94+7A>G single nucleotide variant not provided [RCV000915881] Chr15:98649682 [GRCh38]
Chr15:99192911 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3114C>T (p.Ala1038=) single nucleotide variant not provided [RCV000926282] Chr15:98934981 [GRCh38]
Chr15:99478210 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1248-6T>C single nucleotide variant not provided [RCV000922194] Chr15:98908679 [GRCh38]
Chr15:99451908 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4065C>T (p.Asn1355=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119132]|not provided [RCV000904852] Chr15:98957403 [GRCh38]
Chr15:99500632 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.580_581del (p.Lys194fs) deletion Craniosynostosis syndrome [RCV000984628] Chr15:98708047..98708048 [GRCh38]
Chr15:99251276..99251277 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3471G>A (p.Thr1157=) single nucleotide variant not provided [RCV000925538] Chr15:98942936 [GRCh38]
Chr15:99486165 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.3843C>T (p.Tyr1281=) single nucleotide variant not provided [RCV000902518] Chr15:98957181 [GRCh38]
Chr15:99500410 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2894G>A (p.Ser965Asn) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119042]|not provided [RCV000906868] Chr15:98930243 [GRCh38]
Chr15:99473472 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp) single nucleotide variant NK-cell enteropathy [RCV000791314] Chr15:98942929 [GRCh38]
Chr15:99486158 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.4055G>T (p.Gly1352Val) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000785067] Chr15:98957393 [GRCh38]
Chr15:99500622 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423) copy number loss not provided [RCV000767761] Chr15:96873212..102389423 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_000875.5(IGF1R):c.3327G>A (p.Leu1109=) single nucleotide variant not provided [RCV000894570] Chr15:98939230 [GRCh38]
Chr15:99482459 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3606C>T (p.Leu1202=) single nucleotide variant not provided [RCV000895079] Chr15:98948592 [GRCh38]
Chr15:99491821 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.75C>T (p.Leu25=) single nucleotide variant not provided [RCV000915389] Chr15:98649656 [GRCh38]
Chr15:99192885 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1638C>T (p.Ser546=) single nucleotide variant not provided [RCV000896512] Chr15:98913092 [GRCh38]
Chr15:99456321 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2304G>A (p.Pro768=) single nucleotide variant not provided [RCV000917347] Chr15:98922250 [GRCh38]
Chr15:99465479 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4098C>T (p.Thr1366=) single nucleotide variant not provided [RCV000924761] Chr15:98957436 [GRCh38]
Chr15:99500665 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1590-9G>A single nucleotide variant not provided [RCV000980291] Chr15:98913035 [GRCh38]
Chr15:99456264 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.2133C>T (p.Ala711=) single nucleotide variant not provided [RCV000976017] Chr15:98916808 [GRCh38]
Chr15:99460037 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3954C>T (p.Asp1318=) single nucleotide variant not provided [RCV000976682] Chr15:98957292 [GRCh38]
Chr15:99500521 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3582C>T (p.Asp1194=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121014]|not provided [RCV000914205] Chr15:98943047 [GRCh38]
Chr15:99486276 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*621G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117657] Chr15:98958063 [GRCh38]
Chr15:99501292 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1555C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119320] Chr15:98958997 [GRCh38]
Chr15:99502226 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1671G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119323] Chr15:98959113 [GRCh38]
Chr15:99502342 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4817C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119735] Chr15:98962259 [GRCh38]
Chr15:99505488 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4835A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119736] Chr15:98962277 [GRCh38]
Chr15:99505506 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4857A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119737] Chr15:98962299 [GRCh38]
Chr15:99505528 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3252G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117976] Chr15:98960694 [GRCh38]
Chr15:99503923 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5518G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119830] Chr15:98962960 [GRCh38]
Chr15:99506189 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6076A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118399] Chr15:98963518 [GRCh38]
Chr15:99506747 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1161C>T (p.Tyr387=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118941] Chr15:98899535 [GRCh38]
Chr15:99442764 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*3688G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116633] Chr15:98961130 [GRCh38]
Chr15:99504359 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1406G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117763] Chr15:98958848 [GRCh38]
Chr15:99502077 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2956+9C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119043] Chr15:98930314 [GRCh38]
Chr15:99473543 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2673del (p.Lys892fs) deletion not provided [RCV000796955] Chr15:98924574 [GRCh38]
Chr15:99467803 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.*5157A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116847] Chr15:98962599 [GRCh38]
Chr15:99505828 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*2087G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117869] Chr15:98959529 [GRCh38]
Chr15:99502758 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1679A>G (p.Lys560Arg) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115984] Chr15:98913133 [GRCh38]
Chr15:99456362 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5166C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116848] Chr15:98962608 [GRCh38]
Chr15:99505837 [GRCh37]
Chr15:15q26.3
likely benign
GRCh37/hg19 15q26.3(chr15:98982492-99411100)x1 copy number loss not provided [RCV001006732] Chr15:98982492..99411100 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.3672C>T (p.Phe1224=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116093] Chr15:98948658 [GRCh38]
Chr15:99491887 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3852G>T (p.Glu1284Asp) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116097]|not provided [RCV002556289] Chr15:98957190 [GRCh38]
Chr15:99500419 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*635G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119234] Chr15:98958077 [GRCh38]
Chr15:99501306 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2426A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119425] Chr15:98959868 [GRCh38]
Chr15:99503097 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2885+15A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119041]|not provided [RCV002069933] Chr15:98929675 [GRCh38]
Chr15:99472904 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*6123C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118401] Chr15:98963565 [GRCh38]
Chr15:99506794 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3072G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116523] Chr15:98960514 [GRCh38]
Chr15:99503743 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*2571A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119426] Chr15:98960013 [GRCh38]
Chr15:99503242 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2460C>T (p.Phe820=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117443] Chr15:98922406 [GRCh38]
Chr15:99465635 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.3982G>A (p.Gly1328Ser) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117535]|not provided [RCV002556502] Chr15:98957320 [GRCh38]
Chr15:99500549 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.3873G>A (p.Glu1291=) single nucleotide variant not provided [RCV000961195] Chr15:98957211 [GRCh38]
Chr15:99500440 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1949G>A (p.Arg650Gln) single nucleotide variant not provided [RCV000965308]|not specified [RCV001796337] Chr15:98916084 [GRCh38]
Chr15:99459313 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.2274G>A (p.Thr758=) single nucleotide variant not provided [RCV000920904] Chr15:98922220 [GRCh38]
Chr15:99465449 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.3847G>A (p.Glu1283Lys) single nucleotide variant not provided [RCV000895434] Chr15:98957185 [GRCh38]
Chr15:99500414 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1866C>T (p.Asn622=) single nucleotide variant not provided [RCV000981231] Chr15:98916001 [GRCh38]
Chr15:99459230 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3778C>A (p.Leu1260Met) single nucleotide variant not provided [RCV003314907] Chr15:98957116 [GRCh38]
Chr15:99500345 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3298-9C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121012]|not provided [RCV000964010] Chr15:98939192 [GRCh38]
Chr15:99482421 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*4765G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119734] Chr15:98962207 [GRCh38]
Chr15:99505436 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3041A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116522] Chr15:98960483 [GRCh38]
Chr15:99503712 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1383C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117762] Chr15:98958825 [GRCh38]
Chr15:99502054 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2212G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117871] Chr15:98959654 [GRCh38]
Chr15:99502883 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*6942C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118492] Chr15:98964384 [GRCh38]
Chr15:99507613 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1997-8C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117441] Chr15:98916664 [GRCh38]
Chr15:99459893 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3588-8C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121015] Chr15:98948566 [GRCh38]
Chr15:99491795 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*506C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117655] Chr15:98957948 [GRCh38]
Chr15:99501177 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5865T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115245] Chr15:98963307 [GRCh38]
Chr15:99506536 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6175A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119935] Chr15:98963617 [GRCh38]
Chr15:99506846 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6306T>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119936] Chr15:98963748 [GRCh38]
Chr15:99506977 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2596T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119428] Chr15:98960038 [GRCh38]
Chr15:99503267 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.457T>A (p.Ser153Thr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115875] Chr15:98707924 [GRCh38]
Chr15:99251153 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1976G>A (p.Arg659Gln) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115987]|not provided [RCV002069868] Chr15:98916111 [GRCh38]
Chr15:99459340 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
NM_000875.5(IGF1R):c.687G>A (p.Glu229=) single nucleotide variant not provided [RCV000937167] Chr15:98891371 [GRCh38]
Chr15:99434600 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2741G>A (p.Gly914Glu) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000984931] Chr15:98924643 [GRCh38]
Chr15:99467872 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99387639-99436575)x1 copy number loss not provided [RCV000847289] Chr15:99387639..99436575 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1 copy number loss not provided [RCV001006730] Chr15:98795669..102429112 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.904G>T (p.Glu302Ter) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000852353] Chr15:98891588 [GRCh38]
Chr15:99434817 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.3454G>A (p.Gly1152Arg) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000852357]|not provided [RCV002462133] Chr15:98939357 [GRCh38]
Chr15:99482586 [GRCh37]
Chr15:15q26.3
pathogenic|likely pathogenic
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000852359]|Inborn genetic diseases [RCV001267278] Chr15:98942995 [GRCh38]
Chr15:99486224 [GRCh37]
Chr15:15q26.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.*1543A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117765] Chr15:98958985 [GRCh38]
Chr15:99502214 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*4392G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121609] Chr15:98961834 [GRCh38]
Chr15:99505063 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1 copy number loss not provided [RCV001006729] Chr15:98686212..102429112 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.*5762T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115244] Chr15:98963204 [GRCh38]
Chr15:99506433 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6638G>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115338] Chr15:98964080 [GRCh38]
Chr15:99507309 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4920C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121710] Chr15:98962362 [GRCh38]
Chr15:99505591 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99467707-99507214)x1 copy number loss not provided [RCV001006735] Chr15:99467707..99507214 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.537G>A (p.Gly179=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115876] Chr15:98708004 [GRCh38]
Chr15:99251233 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6933C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118491] Chr15:98964375 [GRCh38]
Chr15:99507604 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3763A>T (p.Met1255Leu) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116095] Chr15:98957101 [GRCh38]
Chr15:99500330 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3845G>A (p.Ser1282Asn) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116096] Chr15:98957183 [GRCh38]
Chr15:99500412 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*257A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116213] Chr15:98957699 [GRCh38]
Chr15:99500928 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*352G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116215] Chr15:98957794 [GRCh38]
Chr15:99501023 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*2414A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119424] Chr15:98959856 [GRCh38]
Chr15:99503085 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2639A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119429] Chr15:98960081 [GRCh38]
Chr15:99503310 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5527C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119831] Chr15:98962969 [GRCh38]
Chr15:99506198 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.71C>T (p.Ser24Leu) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001249834] Chr15:98649652 [GRCh38]
Chr15:99192881 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1382G>A (p.Arg461His) single nucleotide variant not provided [RCV003106304] Chr15:98908819 [GRCh38]
Chr15:99452048 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3652A>G (p.Asn1218Asp) single nucleotide variant not provided [RCV003237100] Chr15:98948638 [GRCh38]
Chr15:99491867 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2882A>G (p.Lys961Arg) single nucleotide variant not provided [RCV003104509] Chr15:98929657 [GRCh38]
Chr15:99472886 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2869G>A (p.Val957Ile) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003234871] Chr15:98929644 [GRCh38]
Chr15:99472873 [GRCh37]
Chr15:15q26.3
uncertain significance
NC_000015.9:g.(?_99434534)_(99505828_?)dup duplication not provided [RCV003105368] Chr15:99434534..99505828 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.59C>T (p.Ser20Phe) single nucleotide variant Inborn genetic diseases [RCV003273033] Chr15:98649640 [GRCh38]
Chr15:99192869 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2202-16T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV002495915]|not provided [RCV001573438] Chr15:98922132 [GRCh38]
Chr15:99465361 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4080G>A (p.Pro1360=) single nucleotide variant not provided [RCV000902598] Chr15:98957418 [GRCh38]
Chr15:99500647 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.654G>A (p.Thr218=) single nucleotide variant not provided [RCV000911036] Chr15:98891338 [GRCh38]
Chr15:99434567 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3975C>T (p.Ala1325=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117534]|not provided [RCV000932386] Chr15:98957313 [GRCh38]
Chr15:99500542 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.3723-4G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116094]|not provided [RCV000907998] Chr15:98957057 [GRCh38]
Chr15:99500286 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.3162G>A (p.Met1054Ile) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000852356] Chr15:98935029 [GRCh38]
Chr15:99478258 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.118C>T (p.Arg40Cys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV000852351] Chr15:98707585 [GRCh38]
Chr15:99250814 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.942C>T (p.Asn314=) single nucleotide variant not provided [RCV000953023] Chr15:98891626 [GRCh38]
Chr15:99434855 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1452G>A (p.Glu484=) single nucleotide variant not provided [RCV000885810] Chr15:98908889 [GRCh38]
Chr15:99452118 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2485+8A>G single nucleotide variant not provided [RCV000931202] Chr15:98922439 [GRCh38]
Chr15:99465668 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1162G>A (p.Val388Met) single nucleotide variant not provided [RCV000888839] Chr15:98899536 [GRCh38]
Chr15:99442765 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.723G>A (p.Ala241=) single nucleotide variant not provided [RCV000888349] Chr15:98891407 [GRCh38]
Chr15:99434636 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.402G>A (p.Arg134=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115874]|not provided [RCV000886934] Chr15:98707869 [GRCh38]
Chr15:99251098 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.846C>T (p.Cys282=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117331]|not provided [RCV000884880] Chr15:98891530 [GRCh38]
Chr15:99434759 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.1773C>T (p.Asn591=) single nucleotide variant not provided [RCV000902555] Chr15:98913227 [GRCh38]
Chr15:99456456 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*4403C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121610] Chr15:98961845 [GRCh38]
Chr15:99505074 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1199C>T (p.Ser400Phe) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001249350] Chr15:98899573 [GRCh38]
Chr15:99442802 [GRCh37]
Chr15:15q26.3
not provided
NM_000875.5(IGF1R):c.*6540C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121917] Chr15:98963982 [GRCh38]
Chr15:99507211 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6578A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121918] Chr15:98964020 [GRCh38]
Chr15:99507249 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5749T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115243] Chr15:98963191 [GRCh38]
Chr15:99506420 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3906C>T (p.Ser1302=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116099] Chr15:98957244 [GRCh38]
Chr15:99500473 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.*3113A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116524] Chr15:98960555 [GRCh38]
Chr15:99503784 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2984_2986delinsG (p.Ala995fs) indel not provided [RCV001240924] Chr15:98934851..98934853 [GRCh38]
Chr15:99478080..99478082 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.*574C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117656] Chr15:98958016 [GRCh38]
Chr15:99501245 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.15C>T (p.Ser5=) single nucleotide variant not provided [RCV000891118] Chr15:98649596 [GRCh38]
Chr15:99192825 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.1247+3A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118943]|not provided [RCV000889389] Chr15:98899624 [GRCh38]
Chr15:99442853 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.3108C>T (p.Asn1036=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119044]|not provided [RCV000911664] Chr15:98934975 [GRCh38]
Chr15:99478204 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.2362A>G (p.Thr788Ala) single nucleotide variant not provided [RCV003236020] Chr15:98922308 [GRCh38]
Chr15:99465537 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3870G>A (p.Pro1290=) single nucleotide variant not provided [RCV003106630] Chr15:98957208 [GRCh38]
Chr15:99500437 [GRCh37]
Chr15:15q26.3
likely benign
GRCh37/hg19 15q26.3(chr15:99212378-99653800)x3 copy number gain not provided [RCV001006733] Chr15:99212378..99653800 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2987G>A (p.Arg996Gln) single nucleotide variant not provided [RCV001594337] Chr15:98934854 [GRCh38]
Chr15:99478083 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99459795-100032533)x3 copy number gain not provided [RCV001006734] Chr15:99459795..100032533 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:98806822-100262828)x3 copy number gain not provided [RCV001006731] Chr15:98806822..100262828 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2128C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117870] Chr15:98959570 [GRCh38]
Chr15:99502799 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3200C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117974] Chr15:98960642 [GRCh38]
Chr15:99503871 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4552T>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118182] Chr15:98961994 [GRCh38]
Chr15:99505223 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4691T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118183] Chr15:98962133 [GRCh38]
Chr15:99505362 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6069G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118398] Chr15:98963511 [GRCh38]
Chr15:99506740 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*7011A>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001120013] Chr15:98964453 [GRCh38]
Chr15:99507682 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*55G>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121123] Chr15:98957497 [GRCh38]
Chr15:99500726 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*687C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119235] Chr15:98958129 [GRCh38]
Chr15:99501358 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*1548G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119319] Chr15:98958990 [GRCh38]
Chr15:99502219 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1767T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121340] Chr15:98959209 [GRCh38]
Chr15:99502438 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4437C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121612] Chr15:98961879 [GRCh38]
Chr15:99505108 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1671G>A (p.Pro557=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001120909] Chr15:98913125 [GRCh38]
Chr15:99456354 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*83A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121125] Chr15:98957525 [GRCh38]
Chr15:99500754 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5092C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121712] Chr15:98962534 [GRCh38]
Chr15:99505763 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5144G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121713] Chr15:98962586 [GRCh38]
Chr15:99505815 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1064A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121234] Chr15:98958506 [GRCh38]
Chr15:99501735 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2808T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121417] Chr15:98960250 [GRCh38]
Chr15:99503479 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2812A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121418] Chr15:98960254 [GRCh38]
Chr15:99503483 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3563T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121517] Chr15:98961005 [GRCh38]
Chr15:99504234 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5002T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121711] Chr15:98962444 [GRCh38]
Chr15:99505673 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*6345A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121915] Chr15:98963787 [GRCh38]
Chr15:99507016 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6499A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121916] Chr15:98963941 [GRCh38]
Chr15:99507170 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1537C>T (p.Arg513Trp) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001120908]|not provided [RCV002556597] Chr15:98911389 [GRCh38]
Chr15:99454618 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3453C>T (p.Ile1151=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121013] Chr15:98939356 [GRCh38]
Chr15:99482585 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.16G>A (p.Gly6Arg) single nucleotide variant not provided [RCV001589629] Chr15:98649597 [GRCh38]
Chr15:99192826 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2782+17G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV002488475]|not provided [RCV001703245]|not specified [RCV001726671] Chr15:98924701 [GRCh38]
Chr15:99467930 [GRCh37]
Chr15:15q26.3
benign|likely benign
NM_000875.5(IGF1R):c.*3620A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116628] Chr15:98961062 [GRCh38]
Chr15:99504291 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4512G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116736] Chr15:98961954 [GRCh38]
Chr15:99505183 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.605A>G (p.Asn202Ser) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117330]|not provided [RCV002556496] Chr15:98708072 [GRCh38]
Chr15:99251301 [GRCh37]
Chr15:15q26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000875.5(IGF1R):c.*502T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117654] Chr15:98957944 [GRCh38]
Chr15:99501173 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1512C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117764] Chr15:98958954 [GRCh38]
Chr15:99502183 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3250G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117975] Chr15:98960692 [GRCh38]
Chr15:99503921 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*3302A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117978] Chr15:98960744 [GRCh38]
Chr15:99503973 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5468C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118300] Chr15:98962910 [GRCh38]
Chr15:99506139 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3793C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118074] Chr15:98961235 [GRCh38]
Chr15:99504464 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3855G>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118075] Chr15:98961297 [GRCh38]
Chr15:99504526 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4762G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118184] Chr15:98962204 [GRCh38]
Chr15:99505433 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*6095C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118400] Chr15:98963537 [GRCh38]
Chr15:99506766 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1462+13A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118946] Chr15:98908912 [GRCh38]
Chr15:99452141 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*44C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119134] Chr15:98957486 [GRCh38]
Chr15:99500715 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1578C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119321] Chr15:98959020 [GRCh38]
Chr15:99502249 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3380C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119515] Chr15:98960822 [GRCh38]
Chr15:99504051 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3420G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119516] Chr15:98960862 [GRCh38]
Chr15:99504091 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2595G>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119427] Chr15:98960037 [GRCh38]
Chr15:99503266 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4149C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119616] Chr15:98961591 [GRCh38]
Chr15:99504820 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4329G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119617] Chr15:98961771 [GRCh38]
Chr15:99505000 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*5528G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119832] Chr15:98962970 [GRCh38]
Chr15:99506199 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*1015C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121233] Chr15:98958457 [GRCh38]
Chr15:99501686 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1763A>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121339] Chr15:98959205 [GRCh38]
Chr15:99502434 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5909G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115247] Chr15:98963351 [GRCh38]
Chr15:99506580 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*4406C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121611] Chr15:98961848 [GRCh38]
Chr15:99505077 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.261G>C (p.Leu87=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115873] Chr15:98707728 [GRCh38]
Chr15:99250957 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5639A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121815] Chr15:98963081 [GRCh38]
Chr15:99506310 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5708T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121816] Chr15:98963150 [GRCh38]
Chr15:99506379 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1186G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116321] Chr15:98958628 [GRCh38]
Chr15:99501857 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1932C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116422] Chr15:98959374 [GRCh38]
Chr15:99502603 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*977C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121232] Chr15:98958419 [GRCh38]
Chr15:99501648 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*2685T>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121416] Chr15:98960127 [GRCh38]
Chr15:99503356 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*2880C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121419] Chr15:98960322 [GRCh38]
Chr15:99503551 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3471C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121515] Chr15:98960913 [GRCh38]
Chr15:99504142 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*3526G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121516] Chr15:98960968 [GRCh38]
Chr15:99504197 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3299C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117977] Chr15:98960741 [GRCh38]
Chr15:99503970 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3087_3088del (p.Arg1029fs) microsatellite not provided [RCV001008912] Chr15:98934952..98934953 [GRCh38]
Chr15:99478181..99478182 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.*3980C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118076] Chr15:98961422 [GRCh38]
Chr15:99504651 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5404G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118299] Chr15:98962846 [GRCh38]
Chr15:99506075 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5481C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001118301] Chr15:98962923 [GRCh38]
Chr15:99506152 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*42C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119133] Chr15:98957484 [GRCh38]
Chr15:99500713 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1617T>C single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119322] Chr15:98959059 [GRCh38]
Chr15:99502288 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.114C>T (p.Asp38=) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001115872] Chr15:98707581 [GRCh38]
Chr15:99250810 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2243C>G (p.Thr748Ser) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001117442] Chr15:98922189 [GRCh38]
Chr15:99465418 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*4349A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119618] Chr15:98961791 [GRCh38]
Chr15:99505020 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*5516G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001119829] Chr15:98962958 [GRCh38]
Chr15:99506187 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3809del (p.Met1270fs) deletion Growth delay due to insulin-like growth factor I resistance [RCV001196521] Chr15:98957147 [GRCh38]
Chr15:99500376 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3869C>T (p.Pro1290Leu) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116098] Chr15:98957207 [GRCh38]
Chr15:99500436 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*63A>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121124] Chr15:98957505 [GRCh38]
Chr15:99500734 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*1799C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121341] Chr15:98959241 [GRCh38]
Chr15:99502470 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1823C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121342] Chr15:98959265 [GRCh38]
Chr15:99502494 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*1152G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116320] Chr15:98958594 [GRCh38]
Chr15:99501823 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.*1287C>G single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116322] Chr15:98958729 [GRCh38]
Chr15:99501958 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3192C>T single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116525] Chr15:98960634 [GRCh38]
Chr15:99503863 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*3624C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116629] Chr15:98961066 [GRCh38]
Chr15:99504295 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3641G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116630] Chr15:98961083 [GRCh38]
Chr15:99504312 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*3653C>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116631] Chr15:98961095 [GRCh38]
Chr15:99504324 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*3664G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001116632] Chr15:98961106 [GRCh38]
Chr15:99504335 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.*6329G>A single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001121914] Chr15:98963771 [GRCh38]
Chr15:99507000 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001262461]|Intellectual disability [RCV001255347] Chr15:98922203 [GRCh38]
Chr15:99465432 [GRCh37]
Chr15:15q26.3
likely pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1 copy number loss not provided [RCV001537887] Chr15:92335751..102399741 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
NM_000875.5(IGF1R):c.3473G>A (p.Arg1158Gln) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001253527] Chr15:98942938 [GRCh38]
Chr15:99486167 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.43G>A (p.Gly15Arg) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001253565] Chr15:98649624 [GRCh38]
Chr15:99192853 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3364G>A (p.Gly1122Ser) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001253726] Chr15:98939267 [GRCh38]
Chr15:99482496 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99389874-99438394)x1 copy number loss See cases [RCV001263028] Chr15:99389874..99438394 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99408416-99877293)x3 copy number gain not provided [RCV001259826] Chr15:99408416..99877293 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.302C>T (p.Pro101Leu) single nucleotide variant Intellectual disability [RCV001260738] Chr15:98707769 [GRCh38]
Chr15:99250998 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1 copy number loss not provided [RCV001259819] Chr15:98275761..102358202 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.3(chr15:99428748-99762146)x3 copy number gain not provided [RCV001259828] Chr15:99428748..99762146 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NM_000875.5(IGF1R):c.2258G>A (p.Arg753Gln) single nucleotide variant Intellectual disability [RCV001281513]|not provided [RCV002542962] Chr15:98922204 [GRCh38]
Chr15:99465433 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2042A>G (p.Glu681Gly) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331398]|not provided [RCV002546472] Chr15:98916717 [GRCh38]
Chr15:99459946 [GRCh37]
Chr15:15q26.3
uncertain significance
NC_000015.9:g.(?_98982860)_(99926307_?)dup duplication not provided [RCV001372150] Chr15:98982860..99926307 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.788C>T (p.Ala263Val) single nucleotide variant not provided [RCV001356313] Chr15:98891472 [GRCh38]
Chr15:99434701 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1924A>C (p.Ser642Arg) single nucleotide variant not provided [RCV001356839] Chr15:98916059 [GRCh38]
Chr15:99459288 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.721G>A (p.Ala241Thr) single nucleotide variant not provided [RCV001357496] Chr15:98891405 [GRCh38]
Chr15:99434634 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3648G>C (p.Leu1216Phe) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001334595] Chr15:98948634 [GRCh38]
Chr15:99491863 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3932C>T (p.Ser1311Leu) single nucleotide variant not provided [RCV001356424] Chr15:98957270 [GRCh38]
Chr15:99500499 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4066G>A (p.Glu1356Lys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001331401]|IGF1R-related condition [RCV003416219]|Inborn genetic diseases [RCV002546474]|not provided [RCV002546473] Chr15:98957404 [GRCh38]
Chr15:99500633 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3529C>T (p.Arg1177Cys) single nucleotide variant Neurodevelopmental disorder [RCV001374985] Chr15:98942994 [GRCh38]
Chr15:99486223 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2155C>T (p.Arg719Cys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001391662] Chr15:98916830 [GRCh38]
Chr15:99460059 [GRCh37]
Chr15:15q26.3
uncertain significance
Single allele deletion Chromosome 15q26-qter deletion syndrome [RCV001391674] Chr15:99192811..101791668 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.3763A>G (p.Met1255Val) single nucleotide variant not provided [RCV001365807] Chr15:98957101 [GRCh38]
Chr15:99500330 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1906_1907dup (p.Pro637fs) microsatellite Growth delay due to insulin-like growth factor I resistance [RCV003154186]|Microcephaly [RCV001526578] Chr15:98916036..98916037 [GRCh38]
Chr15:99459265..99459266 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.-4A>G single nucleotide variant not specified [RCV002238582] Chr15:98649578 [GRCh38]
Chr15:99192807 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1669C>T (p.Pro557Ser) single nucleotide variant not provided [RCV002273538] Chr15:98913123 [GRCh38]
Chr15:99456352 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.968C>G (p.Pro323Arg) single nucleotide variant not provided [RCV002273541] Chr15:98896771 [GRCh38]
Chr15:99440000 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2756C>A (p.Pro919His) single nucleotide variant not provided [RCV001761318] Chr15:98924658 [GRCh38]
Chr15:99467887 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.419C>T (p.Ala140Val) single nucleotide variant not provided [RCV001758012] Chr15:98707886 [GRCh38]
Chr15:99251115 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3766A>T (p.Arg1256Trp) single nucleotide variant not provided [RCV001733268] Chr15:98957104 [GRCh38]
Chr15:99500333 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3776_3779dup (p.Glu1261fs) microsatellite not provided [RCV002280470] Chr15:98957106..98957107 [GRCh38]
Chr15:99500335..99500336 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3415C>T (p.Arg1139Trp) single nucleotide variant not provided [RCV001733452] Chr15:98939318 [GRCh38]
Chr15:99482547 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4079C>G (p.Pro1360Arg) single nucleotide variant not provided [RCV001767419] Chr15:98957417 [GRCh38]
Chr15:99500646 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99251887-99644855)x3 copy number gain Growth delay due to insulin-like growth factor I resistance [RCV001801224] Chr15:99251887..99644855 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1372G>A (p.Glu458Lys) single nucleotide variant not provided [RCV001772561] Chr15:98908809 [GRCh38]
Chr15:99452038 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.379G>A (p.Asp127Asn) single nucleotide variant not provided [RCV001768753] Chr15:98707846 [GRCh38]
Chr15:99251075 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4072G>C (p.Ala1358Pro) single nucleotide variant not provided [RCV001767677] Chr15:98957410 [GRCh38]
Chr15:99500639 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1025A>G (p.Asp342Gly) single nucleotide variant not provided [RCV001754264] Chr15:98896828 [GRCh38]
Chr15:99440057 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.237G>A (p.Thr79=) single nucleotide variant not provided [RCV001795788] Chr15:98707704 [GRCh38]
Chr15:99250933 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3964G>A (p.Gly1322Arg) single nucleotide variant not provided [RCV001786991] Chr15:98957302 [GRCh38]
Chr15:99500531 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4035T>C (p.Pro1345=) single nucleotide variant not provided [RCV001816162] Chr15:98957373 [GRCh38]
Chr15:99500602 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1464T>G (p.Cys488Trp) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV001814600]|not provided [RCV001757209] Chr15:98911316 [GRCh38]
Chr15:99454545 [GRCh37]
Chr15:15q26.3
pathogenic|uncertain significance
NM_000875.5(IGF1R):c.3872A>G (p.Glu1291Gly) single nucleotide variant Short stature [RCV001818099] Chr15:98957210 [GRCh38]
Chr15:99500439 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3160A>G (p.Met1054Val) single nucleotide variant not provided [RCV001822023] Chr15:98935027 [GRCh38]
Chr15:99478256 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3988G>A (p.Gly1330Ser) single nucleotide variant not provided [RCV001908053] Chr15:98957326 [GRCh38]
Chr15:99500555 [GRCh37]
Chr15:15q26.3
uncertain significance
NC_000015.9:g.(?_98947180)_(101791661_?)dup duplication not provided [RCV002004470] Chr15:98947180..101791661 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99397722-99782050) copy number gain not specified [RCV002052495] Chr15:99397722..99782050 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99490397-99521812)x1 copy number loss not provided [RCV001829233] Chr15:99490397..99521812 [GRCh37]
Chr15:15q26.3
likely pathogenic
GRCh37/hg19 15q26.3(chr15:99439498-99720434) copy number loss not specified [RCV002052496] Chr15:99439498..99720434 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:94836128-101302111) copy number loss not specified [RCV002052489] Chr15:94836128..101302111 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112) copy number loss not specified [RCV002052490] Chr15:97026327..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_000875.5(IGF1R):c.3979A>G (p.Asn1327Asp) single nucleotide variant not provided [RCV001847402] Chr15:98957317 [GRCh38]
Chr15:99500546 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:98987929-99409358) copy number gain not specified [RCV002052492] Chr15:98987929..99409358 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.3(chr15:99258367-102429112) copy number loss not specified [RCV002052494] Chr15:99258367..102429112 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.817G>A (p.Gly273Ser) single nucleotide variant not provided [RCV001837085] Chr15:98891501 [GRCh38]
Chr15:99434730 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112) copy number loss not specified [RCV002052491] Chr15:97223728..102429112 [GRCh37]
Chr15:15q26.2-26.3
pathogenic
NM_000875.5(IGF1R):c.3432C>T (p.Ala1144=) single nucleotide variant not specified [RCV001844524] Chr15:98939335 [GRCh38]
Chr15:99482564 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1573G>A (p.Val525Ile) single nucleotide variant not provided [RCV001919230] Chr15:98911425 [GRCh38]
Chr15:99454654 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3685G>A (p.Gly1229Ser) single nucleotide variant Inborn genetic diseases [RCV002592621]|not provided [RCV001978391] Chr15:98948671 [GRCh38]
Chr15:99491900 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3824G>A (p.Arg1275Gln) single nucleotide variant not provided [RCV001899538] Chr15:98957162 [GRCh38]
Chr15:99500391 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1289A>G (p.Gln430Arg) single nucleotide variant not provided [RCV002047396] Chr15:98908726 [GRCh38]
Chr15:99451955 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2934G>A (p.Pro978=) single nucleotide variant not provided [RCV001980063] Chr15:98930283 [GRCh38]
Chr15:99473512 [GRCh37]
Chr15:15q26.3
likely benign|uncertain significance
NM_000875.5(IGF1R):c.2077G>A (p.Gly693Ser) single nucleotide variant Inborn genetic diseases [RCV002552111]|not provided [RCV001880733] Chr15:98916752 [GRCh38]
Chr15:99459981 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.436A>G (p.Asn146Asp) single nucleotide variant not provided [RCV002034836] Chr15:98707903 [GRCh38]
Chr15:99251132 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2486-3C>A single nucleotide variant not provided [RCV001936095] Chr15:98923873 [GRCh38]
Chr15:99467102 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1473C>T (p.Asp491=) single nucleotide variant not provided [RCV002210551] Chr15:98911325 [GRCh38]
Chr15:99454554 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2814C>T (p.Ile938=) single nucleotide variant not provided [RCV002106042] Chr15:98929589 [GRCh38]
Chr15:99472818 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.201C>T (p.Ala67=) single nucleotide variant not provided [RCV002146561] Chr15:98707668 [GRCh38]
Chr15:99250897 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1212C>T (p.Asn404=) single nucleotide variant not provided [RCV002145476] Chr15:98899586 [GRCh38]
Chr15:99442815 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.588C>G (p.Thr196=) single nucleotide variant not provided [RCV002193681] Chr15:98708055 [GRCh38]
Chr15:99251284 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.640+20C>T single nucleotide variant not provided [RCV002094546] Chr15:98708127 [GRCh38]
Chr15:99251356 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.824G>A (p.Arg275His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV002077367]|not provided [RCV002464513] Chr15:98891508 [GRCh38]
Chr15:99434737 [GRCh37]
Chr15:15q26.3
likely pathogenic|uncertain significance
NM_000875.5(IGF1R):c.1143C>T (p.Ile381=) single nucleotide variant not provided [RCV002135746] Chr15:98899517 [GRCh38]
Chr15:99442746 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1997-10T>A single nucleotide variant not provided [RCV003113032] Chr15:98916662 [GRCh38]
Chr15:99459891 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3414C>T (p.Ala1138=) single nucleotide variant not provided [RCV003118398] Chr15:98939317 [GRCh38]
Chr15:99482546 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4044C>T (p.His1348=) single nucleotide variant not provided [RCV003121344] Chr15:98957382 [GRCh38]
Chr15:99500611 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1659C>T (p.Asp553=) single nucleotide variant not provided [RCV003118826] Chr15:98913113 [GRCh38]
Chr15:99456342 [GRCh37]
Chr15:15q26.3
likely benign
NC_000015.9:g.(?_99192811)_(99251356_?)dup duplication not provided [RCV003105367] Chr15:99192811..99251356 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4087C>T (p.Gln1363Ter) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003131253] Chr15:98957425 [GRCh38]
Chr15:99500654 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3523C>T (p.Pro1175Ser) single nucleotide variant not provided [RCV003152112] Chr15:98942988 [GRCh38]
Chr15:99486217 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.641-2A>G single nucleotide variant not provided [RCV003152160] Chr15:98891323 [GRCh38]
Chr15:99434552 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.1948C>T (p.Arg650Trp) single nucleotide variant not provided [RCV003234500] Chr15:98916083 [GRCh38]
Chr15:99459312 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4098CTG[1] (p.Cys1367del) microsatellite not provided [RCV003231788] Chr15:98957436..98957438 [GRCh38]
Chr15:99500665..99500667 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2252C>T (p.Ser751Phe) single nucleotide variant not provided [RCV002265269] Chr15:98922198 [GRCh38]
Chr15:99465427 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2684_2692del (p.Arg895_Asn897del) deletion not provided [RCV002274512] Chr15:98924578..98924586 [GRCh38]
Chr15:99467807..99467815 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.190A>G (p.Ile64Val) single nucleotide variant not provided [RCV002265336] Chr15:98707657 [GRCh38]
Chr15:99250886 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2398C>T (p.Arg800Cys) single nucleotide variant not provided [RCV002293597] Chr15:98922344 [GRCh38]
Chr15:99465573 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3864C>T (p.Pro1288=) single nucleotide variant not provided [RCV002262484] Chr15:98957202 [GRCh38]
Chr15:99500431 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1609G>A (p.Glu537Lys) single nucleotide variant not provided [RCV002265287] Chr15:98913063 [GRCh38]
Chr15:99456292 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2579G>A (p.Gly860Glu) single nucleotide variant not provided [RCV002267493] Chr15:98923969 [GRCh38]
Chr15:99467198 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2810T>C (p.Ile937Thr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV002289061] Chr15:98929585 [GRCh38]
Chr15:99472814 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1447G>T (p.Gly483Trp) single nucleotide variant not provided [RCV002293596] Chr15:98908884 [GRCh38]
Chr15:99452113 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3457+1dup duplication Growth delay due to insulin-like growth factor I resistance [RCV002283685] Chr15:98939359..98939360 [GRCh38]
Chr15:99482588..99482589 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.2092C>A (p.Pro698Thr) single nucleotide variant not provided [RCV002279003] Chr15:98916767 [GRCh38]
Chr15:99459996 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3469A>G (p.Thr1157Ala) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003131254] Chr15:98942934 [GRCh38]
Chr15:99486163 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1814G>A (p.Arg605His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003131257] Chr15:98913268 [GRCh38]
Chr15:99456497 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2927T>C (p.Val976Ala) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003153193] Chr15:98930276 [GRCh38]
Chr15:99473505 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2638G>T (p.Val880Leu) single nucleotide variant not provided [RCV002469726] Chr15:98924540 [GRCh38]
Chr15:99467769 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1643G>C (p.Ser548Thr) single nucleotide variant not provided [RCV002474179] Chr15:98913097 [GRCh38]
Chr15:99456326 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2622+12G>A single nucleotide variant not provided [RCV002771263] Chr15:98924024 [GRCh38]
Chr15:99467253 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4065C>G (p.Asn1355Lys) single nucleotide variant not provided [RCV002469658] Chr15:98957403 [GRCh38]
Chr15:99500632 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1764G>T (p.Met588Ile) single nucleotide variant not provided [RCV002304029] Chr15:98913218 [GRCh38]
Chr15:99456447 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3758C>A (p.Pro1253His) single nucleotide variant not provided [RCV002303565] Chr15:98957096 [GRCh38]
Chr15:99500325 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2969A>G (p.Asp990Gly) single nucleotide variant not provided [RCV002304920] Chr15:98934836 [GRCh38]
Chr15:99478065 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3190C>T (p.Arg1064Ter) single nucleotide variant not provided [RCV002306387] Chr15:98935319 [GRCh38]
Chr15:99478548 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.3751T>C (p.Tyr1251His) single nucleotide variant not provided [RCV002299108] Chr15:98957089 [GRCh38]
Chr15:99500318 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.208T>G (p.Tyr70Asp) single nucleotide variant not provided [RCV002308786] Chr15:98707675 [GRCh38]
Chr15:99250904 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1693G>A (p.Gly565Ser) single nucleotide variant Inborn genetic diseases [RCV002993553]|not provided [RCV002993554] Chr15:98913147 [GRCh38]
Chr15:99456376 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2697G>C (p.Gly899=) single nucleotide variant not provided [RCV002616278] Chr15:98924599 [GRCh38]
Chr15:99467828 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1590-20_1590-19inv inversion not provided [RCV002775833] Chr15:98913024..98913025 [GRCh38]
Chr15:99456253..99456254 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2895C>T (p.Ser965=) single nucleotide variant not provided [RCV003073823] Chr15:98930244 [GRCh38]
Chr15:99473473 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1731C>T (p.Tyr577=) single nucleotide variant not provided [RCV002967806] Chr15:98913185 [GRCh38]
Chr15:99456414 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4020C>T (p.Phe1340=) single nucleotide variant not provided [RCV002617351] Chr15:98957358 [GRCh38]
Chr15:99500587 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.854T>C (p.Ile285Thr) single nucleotide variant not provided [RCV002780034] Chr15:98891538 [GRCh38]
Chr15:99434767 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1791C>T (p.Ala597=) single nucleotide variant not provided [RCV002843768] Chr15:98913245 [GRCh38]
Chr15:99456474 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2123A>C (p.Glu708Ala) single nucleotide variant Inborn genetic diseases [RCV002883482] Chr15:98916798 [GRCh38]
Chr15:99460027 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3868C>G (p.Pro1290Ala) single nucleotide variant not provided [RCV002995257] Chr15:98957206 [GRCh38]
Chr15:99500435 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
NM_000875.5(IGF1R):c.1902C>T (p.Pro634=) single nucleotide variant not provided [RCV002771360] Chr15:98916037 [GRCh38]
Chr15:99459266 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.591C>G (p.Ile197Met) single nucleotide variant Inborn genetic diseases [RCV002859967] Chr15:98708058 [GRCh38]
Chr15:99251287 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3668G>A (p.Arg1223His) single nucleotide variant Inborn genetic diseases [RCV002753527] Chr15:98948654 [GRCh38]
Chr15:99491883 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2134G>A (p.Glu712Lys) single nucleotide variant Inborn genetic diseases [RCV002883771] Chr15:98916809 [GRCh38]
Chr15:99460038 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3304C>T (p.Pro1102Ser) single nucleotide variant not provided [RCV003017098] Chr15:98939207 [GRCh38]
Chr15:99482436 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3255C>T (p.Gly1085=) single nucleotide variant not provided [RCV002756318] Chr15:98935384 [GRCh38]
Chr15:99478613 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.2802C>A (p.Ile934=) single nucleotide variant not provided [RCV002881979] Chr15:98929577 [GRCh38]
Chr15:99472806 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.732C>T (p.Asn244=) single nucleotide variant not provided [RCV002755989] Chr15:98891416 [GRCh38]
Chr15:99434645 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1103-6A>G single nucleotide variant not provided [RCV002461778] Chr15:98899471 [GRCh38]
Chr15:99442700 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1215T>G (p.Leu405=) single nucleotide variant not provided [RCV002947642] Chr15:98899589 [GRCh38]
Chr15:99442818 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.807C>T (p.Tyr269=) single nucleotide variant not provided [RCV002727336] Chr15:98891491 [GRCh38]
Chr15:99434720 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2201+12A>G single nucleotide variant not provided [RCV002970695] Chr15:98916888 [GRCh38]
Chr15:99460117 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2670G>A (p.Gly890=) single nucleotide variant not provided [RCV002862128] Chr15:98924572 [GRCh38]
Chr15:99467801 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.722C>T (p.Ala241Val) single nucleotide variant Inborn genetic diseases [RCV002726777]|not provided [RCV002745260] Chr15:98891406 [GRCh38]
Chr15:99434635 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3753T>C (p.Tyr1251=) single nucleotide variant not provided [RCV002755233] Chr15:98957091 [GRCh38]
Chr15:99500320 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.303C>T (p.Pro101=) single nucleotide variant not provided [RCV002775917] Chr15:98707770 [GRCh38]
Chr15:99250999 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1030del (p.Val344fs) deletion Inborn genetic diseases [RCV002861121] Chr15:98896833 [GRCh38]
Chr15:99440062 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.953+14A>T single nucleotide variant not provided [RCV002861881] Chr15:98891651 [GRCh38]
Chr15:99434880 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3297+19C>T single nucleotide variant not provided [RCV002617538] Chr15:98935445 [GRCh38]
Chr15:99478674 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.237G>C (p.Thr79=) single nucleotide variant not provided [RCV003033968] Chr15:98707704 [GRCh38]
Chr15:99250933 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2622+9G>T single nucleotide variant not provided [RCV002889607] Chr15:98924021 [GRCh38]
Chr15:99467250 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1829-18C>G single nucleotide variant not provided [RCV002871298] Chr15:98915946 [GRCh38]
Chr15:99459175 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.840C>T (p.Asp280=) single nucleotide variant not provided [RCV002889477] Chr15:98891524 [GRCh38]
Chr15:99434753 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2485+18T>C single nucleotide variant not provided [RCV003002620] Chr15:98922449 [GRCh38]
Chr15:99465678 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1804T>C (p.Leu602=) single nucleotide variant not provided [RCV003021477] Chr15:98913258 [GRCh38]
Chr15:99456487 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.28C>T (p.Pro10Ser) single nucleotide variant not provided [RCV002623082] Chr15:98649609 [GRCh38]
Chr15:99192838 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3297+20G>T single nucleotide variant not provided [RCV002572187] Chr15:98935446 [GRCh38]
Chr15:99478675 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.953+9C>T single nucleotide variant not provided [RCV002572017] Chr15:98891646 [GRCh38]
Chr15:99434875 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3935C>T (p.Ser1312Phe) single nucleotide variant not provided [RCV002740435] Chr15:98957273 [GRCh38]
Chr15:99500502 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1227A>G (p.Leu409=) single nucleotide variant not provided [RCV002871200] Chr15:98899601 [GRCh38]
Chr15:99442830 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.570G>A (p.Pro190=) single nucleotide variant not provided [RCV002976533] Chr15:98708037 [GRCh38]
Chr15:99251266 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3723-6C>T single nucleotide variant not provided [RCV002885368] Chr15:98957055 [GRCh38]
Chr15:99500284 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2693C>T (p.Pro898Leu) single nucleotide variant not provided [RCV002620627] Chr15:98924595 [GRCh38]
Chr15:99467824 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1863G>A (p.Ser621=) single nucleotide variant not provided [RCV002619129] Chr15:98915998 [GRCh38]
Chr15:99459227 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.879C>T (p.Ser293=) single nucleotide variant not provided [RCV002736509] Chr15:98891563 [GRCh38]
Chr15:99434792 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.770C>T (p.Ala257Val) single nucleotide variant not provided [RCV003079853] Chr15:98891454 [GRCh38]
Chr15:99434683 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1589+17G>A single nucleotide variant not provided [RCV002569796] Chr15:98911458 [GRCh38]
Chr15:99454687 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2524C>T (p.Pro842Ser) single nucleotide variant not provided [RCV002949675] Chr15:98923914 [GRCh38]
Chr15:99467143 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.384T>A (p.Ile128=) single nucleotide variant not provided [RCV002871073] Chr15:98707851 [GRCh38]
Chr15:99251080 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.80C>T (p.Pro27Leu) single nucleotide variant not provided [RCV002658840] Chr15:98649661 [GRCh38]
Chr15:99192890 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3029T>G (p.Phe1010Cys) single nucleotide variant Inborn genetic diseases [RCV002888698] Chr15:98934896 [GRCh38]
Chr15:99478125 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2425G>A (p.Glu809Lys) single nucleotide variant not provided [RCV002785548] Chr15:98922371 [GRCh38]
Chr15:99465600 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3031G>C (p.Gly1011Arg) single nucleotide variant not provided [RCV002508438] Chr15:98934898 [GRCh38]
Chr15:99478127 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1412G>A (p.Arg471His) single nucleotide variant not provided [RCV002700841] Chr15:98908849 [GRCh38]
Chr15:99452078 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1728G>A (p.Gln576=) single nucleotide variant not provided [RCV002575371] Chr15:98913182 [GRCh38]
Chr15:99456411 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3846C>T (p.Ser1282=) single nucleotide variant not provided [RCV002593827] Chr15:98957184 [GRCh38]
Chr15:99500413 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2412C>T (p.His804=) single nucleotide variant not provided [RCV002830177] Chr15:98922358 [GRCh38]
Chr15:99465587 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3823C>T (p.Arg1275Trp) single nucleotide variant not provided [RCV002642299] Chr15:98957161 [GRCh38]
Chr15:99500390 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1321A>G (p.Ile441Val) single nucleotide variant not provided [RCV002667771] Chr15:98908758 [GRCh38]
Chr15:99451987 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3709T>A (p.Cys1237Ser) single nucleotide variant Inborn genetic diseases [RCV003085944]|not provided [RCV003093777] Chr15:98948695 [GRCh38]
Chr15:99491924 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1103-17A>G single nucleotide variant not provided [RCV002786306] Chr15:98899460 [GRCh38]
Chr15:99442689 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.3064G>A (p.Val1022Met) single nucleotide variant not provided [RCV002802120] Chr15:98934931 [GRCh38]
Chr15:99478160 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2806C>T (p.Leu936=) single nucleotide variant not provided [RCV002765491] Chr15:98929581 [GRCh38]
Chr15:99472810 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.861C>T (p.Ser287=) single nucleotide variant not provided [RCV002890830] Chr15:98891545 [GRCh38]
Chr15:99434774 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1533G>A (p.Arg511=) single nucleotide variant not provided [RCV003040498] Chr15:98911385 [GRCh38]
Chr15:99454614 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3722+17C>T single nucleotide variant not provided [RCV002593817] Chr15:98948725 [GRCh38]
Chr15:99491954 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2559G>A (p.Pro853=) single nucleotide variant not provided [RCV002766505] Chr15:98923949 [GRCh38]
Chr15:99467178 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2449G>A (p.Ala817Thr) single nucleotide variant not provided [RCV003085187] Chr15:98922395 [GRCh38]
Chr15:99465624 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4033C>G (p.Pro1345Ala) single nucleotide variant Inborn genetic diseases [RCV002892896] Chr15:98957371 [GRCh38]
Chr15:99500600 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.489G>A (p.Ala163=) single nucleotide variant not provided [RCV002790570] Chr15:98707956 [GRCh38]
Chr15:99251185 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2448C>T (p.Ser816=) single nucleotide variant not provided [RCV002667751] Chr15:98922394 [GRCh38]
Chr15:99465623 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2202-13C>A single nucleotide variant not provided [RCV002574948] Chr15:98922135 [GRCh38]
Chr15:99465364 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3022G>A (p.Gly1008Arg) single nucleotide variant not provided [RCV002508553] Chr15:98934889 [GRCh38]
Chr15:99478118 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2956+17C>T single nucleotide variant not provided [RCV002593532] Chr15:98930322 [GRCh38]
Chr15:99473551 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2240A>G (p.Asn747Ser) single nucleotide variant not provided [RCV003083416] Chr15:98922186 [GRCh38]
Chr15:99465415 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3863C>T (p.Pro1288Leu) single nucleotide variant not provided [RCV002712161] Chr15:98957201 [GRCh38]
Chr15:99500430 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3187-3C>T single nucleotide variant not provided [RCV002805387] Chr15:98935313 [GRCh38]
Chr15:99478542 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1929C>T (p.Tyr643=) single nucleotide variant not provided [RCV002790289] Chr15:98916064 [GRCh38]
Chr15:99459293 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3334A>G (p.Met1112Val) single nucleotide variant Inborn genetic diseases [RCV002850199] Chr15:98939237 [GRCh38]
Chr15:99482466 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2273C>T (p.Thr758Met) single nucleotide variant not provided [RCV003058484] Chr15:98922219 [GRCh38]
Chr15:99465448 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3627C>T (p.Ala1209=) single nucleotide variant not provided [RCV002594757] Chr15:98948613 [GRCh38]
Chr15:99491842 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3477T>C (p.Asp1159=) single nucleotide variant not provided [RCV003082747] Chr15:98942942 [GRCh38]
Chr15:99486171 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.1551C>T (p.Tyr517=) single nucleotide variant not provided [RCV002766350] Chr15:98911403 [GRCh38]
Chr15:99454632 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3757C>A (p.Pro1253Thr) single nucleotide variant Inborn genetic diseases [RCV002718178] Chr15:98957095 [GRCh38]
Chr15:99500324 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3115G>T (p.Ala1039Ser) single nucleotide variant not provided [RCV002720921] Chr15:98934982 [GRCh38]
Chr15:99478211 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.929G>A (p.Gly310Asp) single nucleotide variant not provided [RCV003063158] Chr15:98891613 [GRCh38]
Chr15:99434842 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2782+15G>A single nucleotide variant not provided [RCV002580510] Chr15:98924699 [GRCh38]
Chr15:99467928 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.296T>A (p.Leu99His) single nucleotide variant not provided [RCV002966983] Chr15:98707763 [GRCh38]
Chr15:99250992 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2786G>A (p.Gly929Glu) single nucleotide variant not provided [RCV003090506] Chr15:98929561 [GRCh38]
Chr15:99472790 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1997-7C>T single nucleotide variant not provided [RCV003088471] Chr15:98916665 [GRCh38]
Chr15:99459894 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.159G>A (p.Thr53=) single nucleotide variant not provided [RCV002597523] Chr15:98707626 [GRCh38]
Chr15:99250855 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4010G>A (p.Arg1337His) single nucleotide variant not provided [RCV002647315] Chr15:98957348 [GRCh38]
Chr15:99500577 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3458-20C>T single nucleotide variant not provided [RCV002600516] Chr15:98942903 [GRCh38]
Chr15:99486132 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.2259A>T (p.Arg753=) single nucleotide variant not provided [RCV003044386] Chr15:98922205 [GRCh38]
Chr15:99465434 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.212G>A (p.Arg71His) single nucleotide variant not provided [RCV002672062] Chr15:98707679 [GRCh38]
Chr15:99250908 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3357T>A (p.Ile1119=) single nucleotide variant not provided [RCV002600300] Chr15:98939260 [GRCh38]
Chr15:99482489 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2493A>G (p.Ala831=) single nucleotide variant not provided [RCV002576490] Chr15:98923883 [GRCh38]
Chr15:99467112 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4082T>G (p.Leu1361Arg) single nucleotide variant not provided [RCV002629290] Chr15:98957420 [GRCh38]
Chr15:99500649 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.71C>G (p.Ser24Trp) single nucleotide variant Inborn genetic diseases [RCV002919833] Chr15:98649652 [GRCh38]
Chr15:99192881 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.289G>A (p.Gly97Arg) single nucleotide variant not provided [RCV003044744] Chr15:98707756 [GRCh38]
Chr15:99250985 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1502C>T (p.Ser501Leu) single nucleotide variant not provided [RCV003061071] Chr15:98911354 [GRCh38]
Chr15:99454583 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1513A>G (p.Ile505Val) single nucleotide variant not provided [RCV003045066] Chr15:98911365 [GRCh38]
Chr15:99454594 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3962C>T (p.Ser1321Leu) single nucleotide variant not provided [RCV002631482] Chr15:98957300 [GRCh38]
Chr15:99500529 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3802GAG[1] (p.Glu1269del) microsatellite not provided [RCV002811914] Chr15:98957140..98957142 [GRCh38]
Chr15:99500369..99500371 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4050C>T (p.Asn1350=) single nucleotide variant not provided [RCV003088087] Chr15:98957388 [GRCh38]
Chr15:99500617 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1281C>T (p.Asn427=) single nucleotide variant not provided [RCV002834201] Chr15:98908718 [GRCh38]
Chr15:99451947 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3588-18G>T single nucleotide variant not provided [RCV002649932] Chr15:98948556 [GRCh38]
Chr15:99491785 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.94+15G>A single nucleotide variant not provided [RCV002576892] Chr15:98649690 [GRCh38]
Chr15:99192919 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2982G>T (p.Val994=) single nucleotide variant not provided [RCV003028343] Chr15:98934849 [GRCh38]
Chr15:99478078 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2663A>G (p.Tyr888Cys) single nucleotide variant Inborn genetic diseases [RCV002989699] Chr15:98924565 [GRCh38]
Chr15:99467794 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3907G>A (p.Val1303Ile) single nucleotide variant not provided [RCV002578937] Chr15:98957245 [GRCh38]
Chr15:99500474 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.300C>T (p.Phe100=) single nucleotide variant not provided [RCV002580484] Chr15:98707767 [GRCh38]
Chr15:99250996 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4012G>A (p.Ala1338Thr) single nucleotide variant not provided [RCV002579232] Chr15:98957350 [GRCh38]
Chr15:99500579 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1716G>A (p.Lys572=) single nucleotide variant not provided [RCV003046774] Chr15:98913170 [GRCh38]
Chr15:99456399 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.95-11TC[3] microsatellite not provided [RCV002584640] Chr15:98707550..98707551 [GRCh38]
Chr15:99250779..99250780 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1338G>A (p.Met446Ile) single nucleotide variant not provided [RCV002583474] Chr15:98908775 [GRCh38]
Chr15:99452004 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2078G>A (p.Gly693Asp) single nucleotide variant Inborn genetic diseases [RCV002656706] Chr15:98916753 [GRCh38]
Chr15:99459982 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2795A>G (p.Asn932Ser) single nucleotide variant not provided [RCV002943752] Chr15:98929570 [GRCh38]
Chr15:99472799 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3722+4C>T single nucleotide variant not provided [RCV002583248] Chr15:98948712 [GRCh38]
Chr15:99491941 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2876A>G (p.His959Arg) single nucleotide variant not provided [RCV002725773] Chr15:98929651 [GRCh38]
Chr15:99472880 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2022C>T (p.Ala674=) single nucleotide variant not provided [RCV003050768] Chr15:98916697 [GRCh38]
Chr15:99459926 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.954-14T>G single nucleotide variant not provided [RCV002582874] Chr15:98896743 [GRCh38]
Chr15:99439972 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.303C>A (p.Pro101=) single nucleotide variant not provided [RCV002586561] Chr15:98707770 [GRCh38]
Chr15:99250999 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2202-8_2202-6del microsatellite not provided [RCV002609303] Chr15:98922135..98922137 [GRCh38]
Chr15:99465364..99465366 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1185C>T (p.Ala395=) single nucleotide variant not provided [RCV002609645] Chr15:98899559 [GRCh38]
Chr15:99442788 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.915G>A (p.Gln305=) single nucleotide variant not provided [RCV002633627] Chr15:98891599 [GRCh38]
Chr15:99434828 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1519A>G (p.Ile507Val) single nucleotide variant not provided [RCV002610016] Chr15:98911371 [GRCh38]
Chr15:99454600 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1372G>C (p.Glu458Gln) single nucleotide variant not provided [RCV002635569] Chr15:98908809 [GRCh38]
Chr15:99452038 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.953+18G>A single nucleotide variant not provided [RCV002587035] Chr15:98891655 [GRCh38]
Chr15:99434884 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1102+16C>G single nucleotide variant not provided [RCV002608695] Chr15:98896921 [GRCh38]
Chr15:99440150 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1155G>A (p.Thr385=) single nucleotide variant not provided [RCV003069509] Chr15:98899529 [GRCh38]
Chr15:99442758 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2424C>T (p.His808=) single nucleotide variant not provided [RCV003069518] Chr15:98922370 [GRCh38]
Chr15:99465599 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2709C>T (p.Ala903=) single nucleotide variant not provided [RCV002603558] Chr15:98924611 [GRCh38]
Chr15:99467840 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1463-20G>A single nucleotide variant not provided [RCV002586422] Chr15:98911295 [GRCh38]
Chr15:99454524 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2957-15C>T single nucleotide variant not provided [RCV002635092] Chr15:98934809 [GRCh38]
Chr15:99478038 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2956+11G>A single nucleotide variant not provided [RCV002582926] Chr15:98930316 [GRCh38]
Chr15:99473545 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3615C>T (p.Ile1205=) single nucleotide variant not provided [RCV002653418] Chr15:98948601 [GRCh38]
Chr15:99491830 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.4011C>T (p.Arg1337=) single nucleotide variant not provided [RCV002611369] Chr15:98957349 [GRCh38]
Chr15:99500578 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.795G>T (p.Pro265=) single nucleotide variant not provided [RCV003069595] Chr15:98891479 [GRCh38]
Chr15:99434708 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.492G>T (p.Val164=) single nucleotide variant not provided [RCV003069600] Chr15:98707959 [GRCh38]
Chr15:99251188 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.2211G>A (p.Arg737=) single nucleotide variant not provided [RCV002604817] Chr15:98922157 [GRCh38]
Chr15:99465386 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2481C>T (p.Pro827=) single nucleotide variant not provided [RCV002589464] Chr15:98922427 [GRCh38]
Chr15:99465656 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1965C>T (p.Gly655=) single nucleotide variant not provided [RCV002609954] Chr15:98916100 [GRCh38]
Chr15:99459329 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1975C>T (p.Arg659Trp) single nucleotide variant not provided [RCV002611972] Chr15:98916110 [GRCh38]
Chr15:99459339 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4070G>A (p.Arg1357Gln) single nucleotide variant not provided [RCV002582300] Chr15:98957408 [GRCh38]
Chr15:99500637 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1447G>A (p.Gly483Arg) single nucleotide variant Keratoconus [RCV003155898] Chr15:98908884 [GRCh38]
Chr15:99452113 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.3488C>T (p.Thr1163Ile) single nucleotide variant not provided [RCV003154432] Chr15:98942953 [GRCh38]
Chr15:99486182 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.733G>A (p.Asp245Asn) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003131256] Chr15:98891417 [GRCh38]
Chr15:99434646 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3938C>T (p.Ser1313Phe) single nucleotide variant not provided [RCV003227452] Chr15:98957276 [GRCh38]
Chr15:99500505 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.736A>G (p.Thr246Ala) single nucleotide variant Inborn genetic diseases [RCV003190919] Chr15:98891420 [GRCh38]
Chr15:99434649 [GRCh37]
Chr15:15q26.3
uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
NM_000875.5(IGF1R):c.2918A>G (p.Tyr973Cys) single nucleotide variant Inborn genetic diseases [RCV003304463] Chr15:98930267 [GRCh38]
Chr15:99473496 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.800A>G (p.Asn267Ser) single nucleotide variant Inborn genetic diseases [RCV003198230] Chr15:98891484 [GRCh38]
Chr15:99434713 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2653T>C (p.Tyr885His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003133681] Chr15:98924555 [GRCh38]
Chr15:99467784 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.665G>A (p.Arg222Gln) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003133682] Chr15:98891349 [GRCh38]
Chr15:99434578 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3307G>A (p.Val1103Ile) single nucleotide variant Inborn genetic diseases [RCV003178499] Chr15:98939210 [GRCh38]
Chr15:99482439 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1381C>T (p.Arg461Cys) single nucleotide variant not provided [RCV003228563] Chr15:98908818 [GRCh38]
Chr15:99452047 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.4024G>A (p.Glu1342Lys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003133683] Chr15:98957362 [GRCh38]
Chr15:99500591 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1589C>T (p.Ala530Val) single nucleotide variant not provided [RCV003324966] Chr15:98911441 [GRCh38]
Chr15:99454670 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3038del (p.Val1013fs) deletion not provided [RCV003327955] Chr15:98934905 [GRCh38]
Chr15:99478134 [GRCh37]
Chr15:15q26.3
pathogenic
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3
pathogenic
NM_000875.5(IGF1R):c.3679G>T (p.Glu1227Ter) single nucleotide variant not provided [RCV003328941] Chr15:98948665 [GRCh38]
Chr15:99491894 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.280G>A (p.Glu94Lys) single nucleotide variant not provided [RCV003329888] Chr15:98707747 [GRCh38]
Chr15:99250976 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.35C>G (p.Ser12Trp) single nucleotide variant Inborn genetic diseases [RCV003357072] Chr15:98649616 [GRCh38]
Chr15:99192845 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2215C>T (p.Arg739Trp) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003334414] Chr15:98922161 [GRCh38]
Chr15:99465390 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3899T>C (p.Met1300Thr) single nucleotide variant not provided [RCV003332674] Chr15:98957237 [GRCh38]
Chr15:99500466 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1222A>C (p.Ile408Leu) single nucleotide variant IGF1R-related condition [RCV003419138] Chr15:98899596 [GRCh38]
Chr15:99442825 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.119G>A (p.Arg40His) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003333272] Chr15:98707586 [GRCh38]
Chr15:99250815 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.575G>A (p.Cys192Tyr) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003448536] Chr15:98708042 [GRCh38]
Chr15:99251271 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2913G>A (p.Val971=) single nucleotide variant not provided [RCV003571229] Chr15:98930262 [GRCh38]
Chr15:99473491 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2403C>T (p.Ile801=) single nucleotide variant not provided [RCV003456904] Chr15:98922349 [GRCh38]
Chr15:99465578 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.1683C>T (p.Asp561=) single nucleotide variant not provided [RCV003570971] Chr15:98913137 [GRCh38]
Chr15:99456366 [GRCh37]
Chr15:15q26.3
benign
NM_000875.5(IGF1R):c.515A>G (p.Asn172Ser) single nucleotide variant not provided [RCV003570733] Chr15:98707982 [GRCh38]
Chr15:99251211 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3094A>G (p.Ile1032Val) single nucleotide variant not provided [RCV003570855] Chr15:98934961 [GRCh38]
Chr15:99478190 [GRCh37]
Chr15:15q26.3
uncertain significance
Single allele deletion not provided [RCV003448683] Chr15:98565904..102400021 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.3348C>T (p.Ala1116=) single nucleotide variant not provided [RCV003395056] Chr15:98939251 [GRCh38]
Chr15:99482480 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3924G>A (p.Ser1308=) single nucleotide variant not provided [RCV003395058] Chr15:98957262 [GRCh38]
Chr15:99500491 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.*3470_*3471dup duplication not provided [RCV003395059] Chr15:98960905..98960906 [GRCh38]
Chr15:99504134..99504135 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3763A>C (p.Met1255Leu) single nucleotide variant IGF1R-related condition [RCV003397630] Chr15:98957101 [GRCh38]
Chr15:99500330 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1799A>C (p.Glu600Ala) single nucleotide variant not specified [RCV003479581] Chr15:98913253 [GRCh38]
Chr15:99456482 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.994T>G (p.Cys332Gly) single nucleotide variant IGF1R-related condition [RCV003404300] Chr15:98896797 [GRCh38]
Chr15:99440026 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1698_1703dup (p.Leu568_His569insLeuLeu) duplication not provided [RCV003442413] Chr15:98913150..98913151 [GRCh38]
Chr15:99456379..99456380 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.699C>T (p.Pro233=) single nucleotide variant not provided [RCV003395054] Chr15:98891383 [GRCh38]
Chr15:99434612 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3482A>G (p.Tyr1161Cys) single nucleotide variant not provided [RCV003395057] Chr15:98942947 [GRCh38]
Chr15:99486176 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.761A>T (p.Tyr254Phe) single nucleotide variant not provided [RCV003390561] Chr15:98891445 [GRCh38]
Chr15:99434674 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1486A>G (p.Thr496Ala) single nucleotide variant IGF1R-related condition [RCV003397285] Chr15:98911338 [GRCh38]
Chr15:99454567 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2T>A (p.Met1Lys) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003447677] Chr15:98649583 [GRCh38]
Chr15:99192812 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.3137_3138del (p.Glu1046fs) deletion Neurodevelopmental disorder [RCV003389225] Chr15:98935003..98935004 [GRCh38]
Chr15:99478232..99478233 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.2201+8G>A single nucleotide variant not provided [RCV003395055] Chr15:98916884 [GRCh38]
Chr15:99460113 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3838TAC[1] (p.Tyr1281del) microsatellite Growth delay due to insulin-like growth factor I resistance [RCV003444531] Chr15:98957175..98957177 [GRCh38]
Chr15:99500404..99500406 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3601G>A (p.Val1201Ile) single nucleotide variant IGF1R-related condition [RCV003422488] Chr15:98948587 [GRCh38]
Chr15:99491816 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3578C>G (p.Ser1193Trp) single nucleotide variant not provided [RCV003443525] Chr15:98943043 [GRCh38]
Chr15:99486272 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.*62del deletion not provided [RCV003390562] Chr15:98957497 [GRCh38]
Chr15:99500726 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2128_2139del (p.Gln710_Lys713del) deletion Neurodevelopmental disorder [RCV003389175] Chr15:98916794..98916805 [GRCh38]
Chr15:99460023..99460034 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.2881_2884del (p.Lys961fs) deletion IGF1R-related condition [RCV003416933] Chr15:98929653..98929656 [GRCh38]
Chr15:99472882..99472885 [GRCh37]
Chr15:15q26.3
likely pathogenic
NM_000875.5(IGF1R):c.1084A>G (p.Ile362Val) single nucleotide variant Growth delay due to insulin-like growth factor I resistance [RCV003388710] Chr15:98896887 [GRCh38]
Chr15:99440116 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2131G>A (p.Ala711Thr) single nucleotide variant not provided [RCV003442687] Chr15:98916806 [GRCh38]
Chr15:99460035 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.836G>A (p.Arg279His) single nucleotide variant not specified [RCV003388471] Chr15:98891520 [GRCh38]
Chr15:99434749 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2032A>G (p.Ile678Val) single nucleotide variant not provided [RCV003660061] Chr15:98916707 [GRCh38]
Chr15:99459936 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1735G>A (p.Val579Ile) single nucleotide variant not provided [RCV003575994] Chr15:98913189 [GRCh38]
Chr15:99456418 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.991G>A (p.Val331Ile) single nucleotide variant not provided [RCV003545484] Chr15:98896794 [GRCh38]
Chr15:99440023 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1857A>G (p.Ser619=) single nucleotide variant not provided [RCV003715022] Chr15:98915992 [GRCh38]
Chr15:99459221 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3736C>T (p.Arg1246Cys) single nucleotide variant not provided [RCV003545517] Chr15:98957074 [GRCh38]
Chr15:99500303 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2745G>T (p.Ser915=) single nucleotide variant not provided [RCV003689704] Chr15:98924647 [GRCh38]
Chr15:99467876 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3829G>A (p.Val1277Ile) single nucleotide variant not provided [RCV003573126] Chr15:98957167 [GRCh38]
Chr15:99500396 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.474C>T (p.Ser158=) single nucleotide variant not provided [RCV003690130] Chr15:98707941 [GRCh38]
Chr15:99251170 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2374A>G (p.Asn792Asp) single nucleotide variant not provided [RCV003712804] Chr15:98922320 [GRCh38]
Chr15:99465549 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3657G>A (p.Glu1219=) single nucleotide variant not provided [RCV003712816] Chr15:98948643 [GRCh38]
Chr15:99491872 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.45del (p.Leu16fs) deletion not provided [RCV003714909] Chr15:98649622 [GRCh38]
Chr15:99192851 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.628C>T (p.Arg210Cys) single nucleotide variant not provided [RCV003661067] Chr15:98708095 [GRCh38]
Chr15:99251324 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.1996+8T>C single nucleotide variant not provided [RCV003662576] Chr15:98916139 [GRCh38]
Chr15:99459368 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.3270T>C (p.Tyr1090=) single nucleotide variant not provided [RCV003713692] Chr15:98935399 [GRCh38]
Chr15:99478628 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.953+8G>A single nucleotide variant not provided [RCV003879113] Chr15:98891645 [GRCh38]
Chr15:99434874 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.148G>T (p.Glu50Ter) single nucleotide variant not provided [RCV003690202] Chr15:98707615 [GRCh38]
Chr15:99250844 [GRCh37]
Chr15:15q26.3
pathogenic
NM_000875.5(IGF1R):c.3811G>C (p.Glu1271Gln) single nucleotide variant not provided [RCV003689709] Chr15:98957149 [GRCh38]
Chr15:99500378 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.3153T>C (p.Ala1051=) single nucleotide variant not provided [RCV003688271] Chr15:98935020 [GRCh38]
Chr15:99478249 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2703C>T (p.Tyr901=) single nucleotide variant not provided [RCV003573920] Chr15:98924605 [GRCh38]
Chr15:99467834 [GRCh37]
Chr15:15q26.3
likely benign
NM_000875.5(IGF1R):c.2615A>G (p.Gln872Arg) single nucleotide variant not provided [RCV003573345] Chr15:98924005 [GRCh38]
Chr15:99467234 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.2246C>T (p.Thr749Ile) single nucleotide variant not provided [RCV003686641] Chr15:98922192 [GRCh38]
Chr15:99465421 [GRCh37]
Chr15:15q26.3
uncertain significance
NM_000875.5(IGF1R):c.320G>A (p.Arg107His) single nucleotide variant not provided [RCV003713131] Chr15:98707787 [GRCh38]
Chr15:99251016 [GRCh37]
Chr15:15q26.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR497hsa-miR-497-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23453369
MIR497hsa-miR-497-5pOncomiRDBexternal_infoNANA23453369
MIR497hsa-miR-497-5pOncomiRDBexternal_infoNANA22710713
MIR139hsa-miR-139-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22580051
MIR139hsa-miR-139-5pOncomiRDBexternal_infoNANA22580051
MIR493hsa-miR-493-3pOncomiRDBexternal_infoNANA22373578
MIR376A2hsa-miR-376a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22747855
MIR376A2hsa-miR-376a-3pOncomiRDBexternal_infoNANA22747855
MIR7-2hsa-miR-7-5pMirtarbaseexternal_infoFlow//qRT-PCR//Western blot//Reporter assay;OtherFunctional MTI20819078
MIR7-2hsa-miR-7-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22614005
MIR7-2hsa-miR-7-5pOncomiRDBexternal_infoNANA22614005
MIR7-2hsa-miR-7-5pOncomiRDBexternal_infoNANA20819078
MIR181B2hsa-miR-181b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23431408
MIR122hsa-miR-122-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19726678
MIR122hsa-miR-122-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23056576
MIR122hsa-miR-122-5pMirtarbaseexternal_infoReporter assay;qRT-PCRFunctional MTI20884628
MIR100hsa-miR-100-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21654750
MIR99Bhsa-miR-99b-5pOncomiRDBexternal_infoNANA20484036
MIR122hsa-miR-122-5pOncomiRDBexternal_infoNANA23056576
MIR122hsa-miR-122-5pOncomiRDBexternal_infoNANA21038412
MIR100hsa-miR-100-5pMirtarbaseexternal_infoELISA//GFP reporter assay//Immunoblot//ImmunopreciFunctional MTI21643012
MIR100hsa-miR-100-5pOncomiRDBexternal_infoNANA20484036
MIR145hsa-miR-145-3pMirecordsexternal_infoNANA19502786
MIR376A1hsa-miR-376a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22747855
MIR181B1hsa-miR-181b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23431408
MIR376A1hsa-miR-376a-3pOncomiRDBexternal_infoNANA22747855
MIR138-1hsa-miR-138-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20819078
MIR7-1hsa-miR-7-5pMirtarbaseexternal_infoFlow//qRT-PCR//Western blot//Reporter assay;OtherFunctional MTI20819078
MIR7-1hsa-miR-7-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22614005
MIR383hsa-miR-383-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23564324
MIR7-1hsa-miR-7-5pOncomiRDBexternal_infoNANA22614005
MIR1226hsa-miR-1226-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR7-1hsa-miR-7-5pOncomiRDBexternal_infoNANA20819078
MIR375hsa-miR-375OncomiRDBexternal_infoNANA21813472
MIR133Bhsa-miR-133bMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19695767
MIR376Chsa-miR-376c-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22747855
MIR376Chsa-miR-376c-3pOncomiRDBexternal_infoNANA22747855
MIR223hsa-miR-223-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22073238
MIR99Ahsa-miR-99a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21687694
MIR99Ahsa-miR-99a-5pOncomiRDBexternal_infoNANA21878637
MIR99Ahsa-miR-99a-5pOncomiRDBexternal_infoNANA20484036
MIR182hsa-miR-182-3pMirecordsexternal_infoNANA19502786
MIR138-2hsa-miR-138-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20819078

Predicted Target Of
Summary Value
Count of predictions:9795
Count of miRNA genes:1439
Interacting mature miRNAs:1939
Transcripts:ENST00000268035, ENST00000557873, ENST00000557938, ENST00000558355, ENST00000558751, ENST00000558762, ENST00000558898, ENST00000558947, ENST00000559582, ENST00000559925, ENST00000560144, ENST00000560186, ENST00000560277, ENST00000560343, ENST00000560432, ENST00000560972, ENST00000561049
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.

Markers in Region
D15S906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,500,882 - 99,501,228UniSTSGRCh37
Build 361597,318,405 - 97,318,751RGDNCBI36
Celera1575,917,830 - 75,918,176RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,628,516 - 75,628,862UniSTS
Stanford-G3 RH Map153698.0UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15738.6UniSTS
GeneMap99-G3 RH Map153693.0UniSTS
RH77818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,372,404 - 99,372,503UniSTSGRCh37
Build 361597,189,927 - 97,190,026RGDNCBI36
Celera1575,789,327 - 75,789,426RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,500,023 - 75,500,122UniSTS
GeneMap99-GB4 RH Map15346.49UniSTS
RH70207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,482,145 - 99,482,318UniSTSGRCh37
Build 361597,299,668 - 97,299,841RGDNCBI36
Celera1575,899,081 - 75,899,254RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,609,767 - 75,609,940UniSTS
GeneMap99-GB4 RH Map15346.39UniSTS
RH44703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,305,269 - 99,305,409UniSTSGRCh37
Build 361597,122,792 - 97,122,932RGDNCBI36
Celera1575,722,169 - 75,722,309RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,432,987 - 75,433,127UniSTS
GeneMap99-GB4 RH Map15348.21UniSTS
NCBI RH Map15733.7UniSTS
RH92510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,504,441 - 99,504,619UniSTSGRCh37
Build 361597,321,964 - 97,322,142RGDNCBI36
Celera1575,921,386 - 75,921,564RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,631,906 - 75,632,084UniSTS
GeneMap99-GB4 RH Map15347.9UniSTS
RH94360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,506,770 - 99,506,905UniSTSGRCh37
Build 361597,324,293 - 97,324,428RGDNCBI36
Celera1575,923,715 - 75,923,850RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,634,234 - 75,634,369UniSTS
GeneMap99-GB4 RH Map15347.9UniSTS
RH94329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,282,615 - 99,282,742UniSTSGRCh37
Build 361597,100,138 - 97,100,265RGDNCBI36
Celera1575,699,524 - 75,699,651RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,410,222 - 75,410,349UniSTS
GeneMap99-GB4 RH Map15346.49UniSTS
RH76769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,257,159 - 99,257,391UniSTSGRCh37
Build 361597,074,682 - 97,074,914RGDNCBI36
Celera1575,674,062 - 75,674,294RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,384,756 - 75,384,988UniSTS
SHGC-58525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,196,245 - 99,196,369UniSTSGRCh37
Build 361597,013,768 - 97,013,892RGDNCBI36
Celera1575,613,162 - 75,613,286RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,323,805 - 75,323,929UniSTS
TNG Radiation Hybrid Map1541100.0UniSTS
SHGC-81342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,214,773 - 99,215,048UniSTSGRCh37
Build 361597,032,296 - 97,032,571RGDNCBI36
Celera1575,631,687 - 75,631,962RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,342,379 - 75,342,654UniSTS
TNG Radiation Hybrid Map1541105.0UniSTS
RH120174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,493,781 - 99,494,052UniSTSGRCh37
Build 361597,311,304 - 97,311,575RGDNCBI36
Celera1575,910,718 - 75,910,989RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,621,404 - 75,621,675UniSTS
TNG Radiation Hybrid Map1541705.0UniSTS
RH120855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,443,832 - 99,444,114UniSTSGRCh37
Build 361597,261,355 - 97,261,637RGDNCBI36
Celera1575,860,770 - 75,861,052RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,571,454 - 75,571,736UniSTS
TNG Radiation Hybrid Map1541728.0UniSTS
RH121492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,297,108 - 99,297,390UniSTSGRCh37
Build 361597,114,631 - 97,114,913RGDNCBI36
Celera1575,714,009 - 75,714,291RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,424,836 - 75,425,118UniSTS
TNG Radiation Hybrid Map1541463.0UniSTS
GDB:187366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,192,229 - 99,192,321UniSTSGRCh37
Build 361597,009,752 - 97,009,844RGDNCBI36
Celera1575,609,149 - 75,609,244RGD
Cytogenetic Map15q26.3UniSTS
SHGC-148975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,321,123 - 99,321,444UniSTSGRCh37
Build 361597,138,646 - 97,138,967RGDNCBI36
Celera1575,738,036 - 75,738,357RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,448,855 - 75,449,176UniSTS
TNG Radiation Hybrid Map1541448.0UniSTS
WI-20575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,267,141 - 99,267,427UniSTSGRCh37
Build 361597,084,664 - 97,084,950RGDNCBI36
Celera1575,684,045 - 75,684,331RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,394,740 - 75,395,026UniSTS
GeneMap99-GB4 RH Map15356.59UniSTS
Whitehead-RH Map15369.5UniSTS
NCBI RH Map15733.7UniSTS
SHGC-156036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,449,249 - 99,449,537UniSTSGRCh37
Build 361597,266,772 - 97,267,060RGDNCBI36
Celera1575,866,186 - 75,866,474RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,576,870 - 75,577,158UniSTS
TNG Radiation Hybrid Map1541747.0UniSTS
RH69514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,457,375 - 99,457,520UniSTSGRCh37
Build 361597,274,898 - 97,275,043RGDNCBI36
Celera1575,874,319 - 75,874,464RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,585,003 - 75,585,148UniSTS
GeneMap99-GB4 RH Map15346.39UniSTS
WI-21793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,502,771 - 99,503,039UniSTSGRCh37
Build 361597,320,294 - 97,320,562RGDNCBI36
Celera1575,919,719 - 75,919,987RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,630,404 - 75,630,672UniSTS
GeneMap99-GB4 RH Map15350.26UniSTS
Whitehead-RH Map15370.7UniSTS
NCBI RH Map15733.7UniSTS
FAH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,250,997 - 99,251,201UniSTSGRCh37
Build 361597,068,520 - 97,068,724RGDNCBI36
Celera1575,667,900 - 75,668,104RGD
HuRef1575,378,594 - 75,378,798UniSTS
IGF1R  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371557,579,696 - 57,579,862UniSTSGRCh37
GRCh371599,467,772 - 99,467,876UniSTSGRCh37
GRCh371599,250,808 - 99,251,200UniSTSGRCh37
Build 361555,366,988 - 55,367,154RGDNCBI36
Celera1575,667,711 - 75,668,103UniSTS
Celera1575,884,716 - 75,884,820UniSTS
Celera1534,469,969 - 34,470,135RGD
HuRef1534,403,306 - 34,403,472UniSTS
HuRef1575,378,405 - 75,378,797UniSTS
HuRef1575,595,401 - 75,595,505UniSTS
SHGC-34685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,482,255 - 99,482,379UniSTSGRCh37
Build 361597,299,778 - 97,299,902RGDNCBI36
Celera1575,899,191 - 75,899,315RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,609,877 - 75,610,001UniSTS
Stanford-G3 RH Map153666.0UniSTS
GeneMap99-GB4 RH Map15350.16UniSTS
Whitehead-RH Map15369.5UniSTS
NCBI RH Map15733.7UniSTS
GeneMap99-G3 RH Map153661.0UniSTS
RH48245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,501,686 - 99,501,868UniSTSGRCh37
Build 361597,319,209 - 97,319,391RGDNCBI36
Celera1575,918,634 - 75,918,816RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,629,320 - 75,629,502UniSTS
GeneMap99-GB4 RH Map15346.49UniSTS
G17859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,195,014 - 99,195,240UniSTSGRCh37
Build 361597,012,537 - 97,012,763RGDNCBI36
Celera1575,611,930 - 75,612,156RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,322,574 - 75,322,800UniSTS
AFMa305ye1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,431,632 - 99,431,769UniSTSGRCh37
Build 361597,249,155 - 97,249,292RGDNCBI36
Celera1575,848,560 - 75,848,707RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,559,248 - 75,559,395UniSTS
Whitehead-RH Map15369.6UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15733.7UniSTS
RH15697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,502,948 - 99,503,084UniSTSGRCh37
Build 361597,320,471 - 97,320,607RGDNCBI36
Celera1575,919,896 - 75,920,032RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,630,581 - 75,630,717UniSTS
GeneMap99-GB4 RH Map15346.49UniSTS
STS-T85175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,376,845 - 99,376,944UniSTSGRCh37
Build 361597,194,368 - 97,194,467RGDNCBI36
Celera1575,793,768 - 75,793,867RGD
Cytogenetic Map15q26.3UniSTS
HuRef1575,504,464 - 75,504,563UniSTS
GeneMap99-GB4 RH Map15353.97UniSTS
UniSTS:481973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371599,442,389 - 99,443,404UniSTSGRCh37
Celera1575,859,327 - 75,860,342UniSTS
HuRef1575,570,011 - 75,571,026UniSTS
IGF1R  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371557,579,696 - 57,579,862UniSTSGRCh37
GRCh371599,467,772 - 99,467,876UniSTSGRCh37
GRCh371599,250,808 - 99,251,200UniSTSGRCh37
Build 361555,366,988 - 55,367,154RGDNCBI36
Celera1575,667,711 - 75,668,103UniSTS
Celera1575,884,716 - 75,884,820UniSTS
Celera1534,469,969 - 34,470,135RGD
HuRef1534,403,306 - 34,403,472UniSTS
HuRef1575,378,405 - 75,378,797UniSTS
HuRef1575,595,401 - 75,595,505UniSTS
IGF1R  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371557,579,696 - 57,579,862UniSTSGRCh37
GRCh371599,467,772 - 99,467,876UniSTSGRCh37
GRCh371599,250,808 - 99,251,200UniSTSGRCh37
Build 361555,366,988 - 55,367,154RGDNCBI36
Celera1575,667,711 - 75,668,103UniSTS
Celera1575,884,716 - 75,884,820UniSTS
Celera1534,469,969 - 34,470,135RGD
HuRef1534,403,306 - 34,403,472UniSTS
HuRef1575,378,405 - 75,378,797UniSTS
HuRef1575,595,401 - 75,595,505UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1733 1748 1213 159 621 31 3295 787 1661 284 1370 1498 142 714 1960 2
Low 699 1233 371 324 1135 294 1061 1405 2047 133 74 108 29 490 828 2
Below cutoff 3 138 138 184 139 2 4 2 13 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB425196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC055807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC118658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC118660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY332722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC088377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM264223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ185364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX093045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN414655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS238517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA486252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR007209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000557873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,873,719 - 98,896,889 (+)Ensembl
RefSeq Acc Id: ENST00000557938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,734,712 - 98,899,546 (+)Ensembl
RefSeq Acc Id: ENST00000558355   ⟹   ENSP00000453630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,707,831 - 98,891,619 (+)Ensembl
RefSeq Acc Id: ENST00000558751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,952,795 - 98,957,292 (+)Ensembl
RefSeq Acc Id: ENST00000558898   ⟹   ENSP00000454115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,890,341 - 98,911,398 (+)Ensembl
RefSeq Acc Id: ENST00000558947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,897,286 - 98,899,576 (+)Ensembl
RefSeq Acc Id: ENST00000559582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,900,610 - 98,913,114 (+)Ensembl
RefSeq Acc Id: ENST00000559925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,649,582 - 98,916,955 (+)Ensembl
RefSeq Acc Id: ENST00000560144   ⟹   ENSP00000456950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,913,176 - 98,922,242 (+)Ensembl
RefSeq Acc Id: ENST00000560186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,820,866 - 98,896,919 (+)Ensembl
RefSeq Acc Id: ENST00000560277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,820,884 - 98,896,849 (+)Ensembl
RefSeq Acc Id: ENST00000560343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,923,782 - 98,924,636 (+)Ensembl
RefSeq Acc Id: ENST00000560432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,890,542 - 98,896,886 (+)Ensembl
RefSeq Acc Id: ENST00000560972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,924,600 - 98,935,366 (+)Ensembl
RefSeq Acc Id: ENST00000561049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,916,485 - 98,923,881 (+)Ensembl
RefSeq Acc Id: ENST00000649865   ⟹   ENSP00000496919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,648,539 - 98,964,530 (+)Ensembl
RefSeq Acc Id: ENST00000650285   ⟹   ENSP00000497069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1598,648,539 - 98,964,530 (+)Ensembl
RefSeq Acc Id: NM_000875   ⟹   NP_000866
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,648,539 - 98,964,530 (+)NCBI
GRCh371599,192,272 - 99,507,759 (+)NCBI
Build 361597,010,284 - 97,325,282 (+)NCBI Archive
HuRef1575,320,348 - 75,635,223 (+)ENTREZGENE
CHM1_11599,033,296 - 99,349,171 (+)NCBI
T2T-CHM13v2.01596,412,912 - 96,728,919 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291858   ⟹   NP_001278787
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,648,539 - 98,964,530 (+)NCBI
CHM1_11599,033,296 - 99,349,171 (+)NCBI
T2T-CHM13v2.01596,412,912 - 96,728,919 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521516   ⟹   XP_011519818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,853,933 - 98,964,530 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521517   ⟹   XP_011519819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,899,940 - 98,964,530 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022137   ⟹   XP_016877626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,664,960 - 98,964,530 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432442   ⟹   XP_047288398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,665,240 - 98,964,530 (+)NCBI
RefSeq Acc Id: XM_047432443   ⟹   XP_047288399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,648,539 - 98,964,530 (+)NCBI
RefSeq Acc Id: XM_047432444   ⟹   XP_047288400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,648,539 - 98,964,530 (+)NCBI
RefSeq Acc Id: XM_047432445   ⟹   XP_047288401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,650,841 - 98,964,530 (+)NCBI
RefSeq Acc Id: XM_054377829   ⟹   XP_054233804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01596,429,334 - 96,728,919 (+)NCBI
RefSeq Acc Id: XM_054377830   ⟹   XP_054233805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01596,429,615 - 96,728,919 (+)NCBI
RefSeq Acc Id: XM_054377831   ⟹   XP_054233806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01596,412,912 - 96,728,919 (+)NCBI
RefSeq Acc Id: XM_054377832   ⟹   XP_054233807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01596,412,912 - 96,728,919 (+)NCBI
RefSeq Acc Id: XM_054377833   ⟹   XP_054233808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01596,414,347 - 96,728,919 (+)NCBI
RefSeq Acc Id: XM_054377834   ⟹   XP_054233809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01596,415,253 - 96,728,919 (+)NCBI
RefSeq Acc Id: XM_054377835   ⟹   XP_054233810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01596,414,347 - 96,728,919 (+)NCBI
RefSeq Acc Id: XM_054377836   ⟹   XP_054233811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01596,664,049 - 96,728,919 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000866 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278787 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519818 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519819 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877626 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288398 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288399 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288400 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288401 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233810 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233811 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB59399 (Get FASTA)   NCBI Sequence Viewer  
  AAB97676 (Get FASTA)   NCBI Sequence Viewer  
  AAI07090 (Get FASTA)   NCBI Sequence Viewer  
  AAI13611 (Get FASTA)   NCBI Sequence Viewer  
  AAI13613 (Get FASTA)   NCBI Sequence Viewer  
  AAI43722 (Get FASTA)   NCBI Sequence Viewer  
  AAP81165 (Get FASTA)   NCBI Sequence Viewer  
  ACF47647 (Get FASTA)   NCBI Sequence Viewer  
  ACF47648 (Get FASTA)   NCBI Sequence Viewer  
  BAG11657 (Get FASTA)   NCBI Sequence Viewer  
  CAA28030 (Get FASTA)   NCBI Sequence Viewer  
  CAJ55819 (Get FASTA)   NCBI Sequence Viewer  
  EAX02220 (Get FASTA)   NCBI Sequence Viewer  
  EAX02221 (Get FASTA)   NCBI Sequence Viewer  
  EAX02222 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000453630.1
  ENSP00000454115.1
  ENSP00000456950.1
  ENSP00000496919
  ENSP00000496919.1
  ENSP00000497069
  ENSP00000497069.1
GenBank Protein P08069 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000866   ⟸   NM_000875
- Peptide Label: isoform 1 precursor
- UniProtKB: Q14CV2 (UniProtKB/Swiss-Prot),   B1B5Y2 (UniProtKB/Swiss-Prot),   Q9UCC0 (UniProtKB/Swiss-Prot),   P08069 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278787   ⟸   NM_001291858
- Peptide Label: isoform 2 precursor
- UniProtKB: C9J5X1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519818   ⟸   XM_011521516
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011519819   ⟸   XM_011521517
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016877626   ⟸   XM_017022137
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000496919   ⟸   ENST00000649865
RefSeq Acc Id: ENSP00000453630   ⟸   ENST00000558355
RefSeq Acc Id: ENSP00000454115   ⟸   ENST00000558898
RefSeq Acc Id: ENSP00000497069   ⟸   ENST00000650285
RefSeq Acc Id: ENSP00000456950   ⟸   ENST00000560144
RefSeq Acc Id: XP_047288399   ⟸   XM_047432443
- Peptide Label: isoform X3
- UniProtKB: Q14CV2 (UniProtKB/Swiss-Prot),   P08069 (UniProtKB/Swiss-Prot),   B1B5Y2 (UniProtKB/Swiss-Prot),   Q9UCC0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047288400   ⟸   XM_047432444
- Peptide Label: isoform X4
- UniProtKB: C9J5X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288401   ⟸   XM_047432445
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047288398   ⟸   XM_047432442
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233806   ⟸   XM_054377831
- Peptide Label: isoform X3
- UniProtKB: Q14CV2 (UniProtKB/Swiss-Prot),   P08069 (UniProtKB/Swiss-Prot),   B1B5Y2 (UniProtKB/Swiss-Prot),   Q9UCC0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054233807   ⟸   XM_054377832
- Peptide Label: isoform X4
- UniProtKB: C9J5X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233808   ⟸   XM_054377833
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054233810   ⟸   XM_054377835
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054233809   ⟸   XM_054377834
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054233804   ⟸   XM_054377829
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233805   ⟸   XM_054377830
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233811   ⟸   XM_054377836
- Peptide Label: isoform X7
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08069-F1-model_v2 AlphaFold P08069 1-1367 view protein structure

Promoters
RGD ID:6792379
Promoter ID:HG_KWN:22444
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000313537,   UC010BON.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361597,009,191 - 97,009,972 (+)MPROMDB
RGD ID:7230643
Promoter ID:EPDNEW_H21067
Type:initiation region
Name:IGF1R_2
Description:insulin like growth factor 1 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21068  EPDNEW_H21069  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,648,954 - 98,649,014EPDNEW
RGD ID:7230645
Promoter ID:EPDNEW_H21068
Type:multiple initiation site
Name:IGF1R_1
Description:insulin like growth factor 1 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21067  EPDNEW_H21069  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,649,551 - 98,649,611EPDNEW
RGD ID:7230647
Promoter ID:EPDNEW_H21069
Type:initiation region
Name:IGF1R_3
Description:insulin like growth factor 1 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21067  EPDNEW_H21068  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381598,924,573 - 98,924,633EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5465 AgrOrtholog
COSMIC IGF1R COSMIC
Ensembl Genes ENSG00000140443 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000558355.1 UniProtKB/TrEMBL
  ENST00000558898.1 UniProtKB/TrEMBL
  ENST00000560144.1 UniProtKB/TrEMBL
  ENST00000649865 ENTREZGENE
  ENST00000649865.1 UniProtKB/TrEMBL
  ENST00000650285 ENTREZGENE
  ENST00000650285.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.20.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140443 GTEx
HGNC ID HGNC:5465 ENTREZGENE
Human Proteome Map IGF1R Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Furin-like_Cys-rich_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Furin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt_L-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt_L-dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_insulin-like_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_rcpt_2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3480 UniProtKB/Swiss-Prot
NCBI Gene 3480 ENTREZGENE
OMIM 147370 OMIM
PANTHER INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Furin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Recep_L_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29698 PharmGKB
PIRSF Insulin_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECEPTOR_TYR_KIN_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00261 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1B5Y2 ENTREZGENE
  C9J5X1 ENTREZGENE, UniProtKB/TrEMBL
  H0YMJ5_HUMAN UniProtKB/TrEMBL
  H0YNR0_HUMAN UniProtKB/TrEMBL
  H3BSZ8_HUMAN UniProtKB/TrEMBL
  IGF1R_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14CV2 ENTREZGENE
  Q3B833_HUMAN UniProtKB/TrEMBL
  Q9UCC0 ENTREZGENE
UniProt Secondary B1B5Y2 UniProtKB/Swiss-Prot
  Q14CV2 UniProtKB/Swiss-Prot
  Q9UCC0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 IGF1R  insulin like growth factor 1 receptor  IGF1R  insulin-like growth factor 1 receptor  Symbol and/or name change 5135510 APPROVED